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	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
TJP3_chr19_3703384_3755813	3711053	GCCACCAC others(288): Show GCCACCACACCCGGCTAATTTTTTGTATTTTTAGTACAGACGGGGTTTCA CCGTGGTAGCCAAGATGGTCTCTCCTGACCTTGTGATCCGCCCACCTCAG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCTTAT TTTATTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGC AGTGGAACGATCTCCGCTCGCTGCAACCTCCACCTCCTGGGTTCAAAGCG ATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(326): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0017 a0018 a0019 a0020 a0024 a0025 a0027	a0001c0002 a0001c0005 a0001c0009 others(52): Show a0001c0002 a0001c0005 a0001c0009 a0001c0011 a0001c0012 a0001c0015 a0001c0017 a0001c0022 a0001c0031 a0001c0057 a0001c0060 a0001c0061 a0001c0063 a0002c0001 a0002c0006 a0002c0008 a0002c0014 a0002c0027 a0002c0030 a0002c0032 a0002c0040 a0002c0045 a0002c0047 a0002c0051 a0003c0003 a0003c0004 a0003c0018 a0003c0026 a0003c0034 a0003c0035 a0004c0007 a0004c0019 a0004c0023 a0004c0024 a0004c0038 a0005c0010 a0005c0016 a0006c0013 a0007c0021 a0007c0028 a0008c0020 a0009c0025 a0010c0042 a0010c0058 a0011c0033 a0012c0037 a0014c0064 a0015c0056 a0017c0046 a0018c0043 a0019c0059 a0020c0041 a0024c0039 a0025c0055 a0027c0048	a0001c0002t0001 a0001c0002t0004 a0001c0005t0001 others(65): Show a0001c0002t0001 a0001c0002t0004 a0001c0005t0001 a0001c0009t0001 a0001c0011t0001 a0001c0012t0001 a0001c0015t0001 a0001c0015t0004 a0001c0017t0001 a0001c0022t0001 a0001c0031t0001 a0001c0057t0001 a0001c0060t0001 a0001c0061t0001 a0001c0063t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0006 a0002c0006t0002 a0002c0008t0002 a0002c0008t0003 a0002c0014t0002 a0002c0014t0003 a0002c0027t0002 a0002c0030t0002 a0002c0030t0003 a0002c0032t0002 a0002c0040t0002 a0002c0045t0003 a0002c0047t0002 a0002c0051t0003 a0003c0003t0001 a0003c0004t0001 a0003c0018t0001 a0003c0026t0001 a0003c0034t0001 a0003c0035t0001 a0004c0007t0002 a0004c0019t0002 a0004c0023t0002 a0004c0024t0002 a0004c0038t0002 a0005c0010t0001 a0005c0010t0004 a0005c0010t0007 a0005c0016t0001 a0005c0016t0004 a0006c0013t0001 a0007c0021t0002 a0007c0021t0003 a0007c0028t0002 a0007c0028t0003 a0008c0020t0001 a0008c0020t0004 a0009c0025t0001 a0010c0042t0001 a0010c0058t0001 a0011c0033t0001 a0012c0037t0001 a0014c0064t0001 a0015c0056t0001 a0017c0046t0001 a0018c0043t0005 a0019c0059t0001 a0020c0041t0002 a0024c0039t0002 a0025c0055t0001 a0027c0048t0004	a0001c0002t0001g0116 a0001c0002t0001g0131 a0001c0002t0001g0146 others(326): Show a0001c0002t0001g0116 a0001c0002t0001g0131 a0001c0002t0001g0146 a0001c0002t0001g0173 a0001c0002t0001g0178 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0194 a0001c0002t0001g0214 a0001c0002t0001g0224 a0001c0002t0001g0237 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0260 a0001c0002t0001g0272 a0001c0002t0001g0281 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0001g0290 a0001c0002t0001g0297 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0319 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0337 a0001c0002t0001g0342 a0001c0002t0001g0343 a0001c0002t0001g0351 a0001c0002t0001g0359 a0001c0002t0001g0371 a0001c0002t0001g0376 a0001c0002t0001g0382 a0001c0002t0004g0073 a0001c0005t0001g0118 a0001c0005t0001g0151 a0001c0005t0001g0172 a0001c0005t0001g0183 a0001c0005t0001g0197 a0001c0005t0001g0210 a0001c0005t0001g0221 a0001c0005t0001g0233 a0001c0005t0001g0238 a0001c0005t0001g0239 a0001c0005t0001g0247 a0001c0005t0001g0269 a0001c0005t0001g0271 a0001c0005t0001g0286 a0001c0005t0001g0292 a0001c0005t0001g0296 a0001c0005t0001g0313 a0001c0005t0001g0315 a0001c0005t0001g0316 a0001c0005t0001g0317 a0001c0005t0001g0331 a0001c0005t0001g0341 a0001c0005t0001g0356 a0001c0005t0001g0360 a0001c0005t0001g0361 a0001c0009t0001g0107 a0001c0009t0001g0137 a0001c0009t0001g0139 a0001c0009t0001g0195 a0001c0009t0001g0232 a0001c0009t0001g0253 a0001c0009t0001g0279 a0001c0009t0001g0300 a0001c0009t0001g0325 a0001c0009t0001g0326 a0001c0011t0001g0190 a0001c0011t0001g0234 a0001c0011t0001g0303 a0001c0011t0001g0346 a0001c0011t0001g0373 a0001c0011t0001g0396 a0001c0012t0001g0157 a0001c0012t0001g0189 a0001c0012t0001g0241 a0001c0012t0001g0364 a0001c0012t0001g0365 a0001c0015t0001g0100 a0001c0015t0001g0207 a0001c0015t0001g0310 a0001c0015t0004g0067 a0001c0017t0001g0145 a0001c0017t0001g0198 a0001c0017t0001g0217 a0001c0017t0001g0248 a0001c0017t0001g0298 a0001c0022t0001g0090 a0001c0022t0001g0215 a0001c0022t0001g0383 a0001c0031t0001g0087 a0001c0031t0001g0280 a0001c0057t0001g0119 a0001c0060t0001g0385 a0001c0061t0001g0158 a0001c0063t0001g0106 a0002c0001t0002g0095 a0002c0001t0002g0102 a0002c0001t0002g0103 a0002c0001t0002g0104 a0002c0001t0002g0105 a0002c0001t0002g0108 a0002c0001t0002g0109 a0002c0001t0002g0114 a0002c0001t0002g0125 a0002c0001t0002g0130 a0002c0001t0002g0132 a0002c0001t0002g0136 a0002c0001t0002g0140 a0002c0001t0002g0141 a0002c0001t0002g0143 a0002c0001t0002g0149 a0002c0001t0002g0155 a0002c0001t0002g0156 a0002c0001t0002g0170 a0002c0001t0002g0175 a0002c0001t0002g0180 a0002c0001t0002g0193 a0002c0001t0002g0201 a0002c0001t0002g0205 a0002c0001t0002g0206 a0002c0001t0002g0209 a0002c0001t0002g0222 a0002c0001t0002g0223 a0002c0001t0002g0226 a0002c0001t0002g0228 a0002c0001t0002g0229 a0002c0001t0002g0230 a0002c0001t0002g0231 a0002c0001t0002g0236 a0002c0001t0002g0252 a0002c0001t0002g0254 a0002c0001t0002g0261 a0002c0001t0002g0276 a0002c0001t0002g0299 a0002c0001t0002g0301 a0002c0001t0002g0302 a0002c0001t0002g0323 a0002c0001t0002g0333 a0002c0001t0002g0335 a0002c0001t0002g0345 a0002c0001t0002g0347 a0002c0001t0002g0348 a0002c0001t0002g0352 a0002c0001t0002g0366 a0002c0001t0002g0367 a0002c0001t0002g0368 a0002c0001t0003g0068 a0002c0001t0003g0069 a0002c0001t0006g0115 a0002c0006t0002g0085 a0002c0006t0002g0122 a0002c0006t0002g0148 a0002c0006t0002g0163 a0002c0006t0002g0165 a0002c0006t0002g0167 a0002c0006t0002g0168 a0002c0006t0002g0171 a0002c0006t0002g0187 a0002c0006t0002g0188 a0002c0006t0002g0291 a0002c0006t0002g0357 a0002c0006t0002g0358 a0002c0006t0002g0378 a0002c0008t0002g0097 a0002c0008t0002g0098 a0002c0008t0002g0176 a0002c0008t0002g0362 a0002c0008t0003g0070 a0002c0008t0003g0071 a0002c0008t0003g0074 a0002c0008t0003g0075 a0002c0008t0003g0080 a0002c0014t0002g0094 a0002c0014t0002g0123 a0002c0014t0002g0138 a0002c0014t0003g0388 a0002c0027t0002g0092 a0002c0030t0002g0322 a0002c0030t0003g0078 a0002c0032t0002g0096 a0002c0040t0002g0160 a0002c0045t0003g0077 a0002c0047t0002g0124 a0002c0051t0003g0389 a0003c0003t0001g0088 a0003c0003t0001g0089 a0003c0003t0001g0129 a0003c0003t0001g0134 a0003c0003t0001g0135 a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0162 a0003c0003t0001g0164 a0003c0003t0001g0174 a0003c0003t0001g0184 a0003c0003t0001g0191 a0003c0003t0001g0202 a0003c0003t0001g0204 a0003c0003t0001g0208 a0003c0003t0001g0220 a0003c0003t0001g0235 a0003c0003t0001g0244 a0003c0003t0001g0245 a0003c0003t0001g0251 a0003c0003t0001g0259 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0267 a0003c0003t0001g0270 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0278 a0003c0003t0001g0288 a0003c0003t0001g0289 a0003c0003t0001g0293 a0003c0003t0001g0321 a0003c0003t0001g0334 a0003c0003t0001g0336 a0003c0003t0001g0344 a0003c0003t0001g0350 a0003c0003t0001g0354 a0003c0003t0001g0355 a0003c0003t0001g0384 a0003c0003t0001g0387 a0003c0004t0001g0086 a0003c0004t0001g0142 a0003c0004t0001g0144 a0003c0004t0001g0161 a0003c0004t0001g0169 a0003c0004t0001g0200 a0003c0004t0001g0211 a0003c0004t0001g0212 a0003c0004t0001g0225 a0003c0004t0001g0227 a0003c0004t0001g0240 a0003c0004t0001g0277 a0003c0004t0001g0282 a0003c0004t0001g0295 a0003c0004t0001g0304 a0003c0004t0001g0311 a0003c0004t0001g0312 a0003c0004t0001g0318 a0003c0004t0001g0324 a0003c0004t0001g0332 a0003c0004t0001g0363 a0003c0004t0001g0369 a0003c0004t0001g0370 a0003c0004t0001g0386 a0003c0004t0001g0392 a0003c0004t0001g0393 a0003c0004t0001g0394 a0003c0004t0001g0395 a0003c0018t0001g0093 a0003c0026t0001g0218 a0003c0026t0001g0307 a0003c0034t0001g0294 a0003c0035t0001g0340 a0004c0007t0002g0133 a0004c0007t0002g0147 a0004c0007t0002g0150 a0004c0007t0002g0152 a0004c0007t0002g0179 a0004c0007t0002g0181 a0004c0007t0002g0182 a0004c0007t0002g0199 a0004c0007t0002g0203 a0004c0007t0002g0213 a0004c0007t0002g0242 a0004c0007t0002g0258 a0004c0007t0002g0349 a0004c0007t0002g0372 a0004c0007t0002g0377 a0004c0019t0002g0192 a0004c0019t0002g0268 a0004c0023t0002g0314 a0004c0023t0002g0320 a0004c0024t0002g0166 a0004c0038t0002g0117 a0005c0010t0001g0110 a0005c0010t0001g0111 a0005c0010t0001g0112 a0005c0010t0004g0063 a0005c0010t0004g0064 a0005c0010t0004g0084 a0005c0010t0007g0083 a0005c0016t0001g0177 a0005c0016t0001g0246 a0005c0016t0004g0076 a0006c0013t0001g0128 a0006c0013t0001g0216 a0006c0013t0001g0219 a0006c0013t0001g0243 a0006c0013t0001g0275 a0006c0013t0001g0339 a0007c0021t0002g0126 a0007c0021t0002g0159 a0007c0021t0003g0081 a0007c0028t0002g0266 a0007c0028t0003g0072 a0008c0020t0001g0374 a0008c0020t0004g0079 a0008c0020t0004g0082 a0009c0025t0001g0196 a0009c0025t0001g0305 a0010c0042t0001g0398 a0010c0058t0001g0099 a0011c0033t0001g0306 a0012c0037t0001g0113 a0014c0064t0001g0120 a0015c0056t0001g0353 a0017c0046t0001g0091 a0018c0043t0005g0375 a0019c0059t0001g0121 a0020c0041t0002g0338 a0024c0039t0002g0101 a0025c0055t0001g0127 a0027c0048t0004g0065	329	398	0.8266	-295	c.-10 others(17): Show c.-10+2500_-10+2794del		TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr19	TogoVar
TMEM132D_chr12_129066726_129909025	129088049	GGGTGTCC others(288): Show GGGTGTCCTCCATGACCGGGGTGTCCTCCCTGACCGGGTGTCCTCCCTGA CCGGGGTGTCCTCCCTGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCC TGACCGGGTGTCCTCCCTGACCGGGTGTCCTCCCTGACCGGGGTGTCCTC CATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGTCC TCTATGACTGGGTGTCCTCCCTGACCGGGGTGTCCTCTATGACCGGGTGT CCTCCATGACCGGGTGTCCTCCCTGACCGGGGTGTCCTCTATGACC	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0051 a0001c0001t0006g0051	1	94	0.0106	-295	c.144 others(19): Show c.1444-3642_1444-3348del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8						chr12	TogoVar
TYK2_chr19_10345533_10385572	10376146	AGGATTGC others(288): Show AGGATTGCAGGCACCTGCCACCATGCCTGGCTACATTTTGTATTTTTAGT AGAGATGCGGTTTCACTACATTGGCCAGGCTGGTCTTGAACTCCTGATCT CAGGTGATCTGCCCGCCTCAGCCTCTGAAAGTGTTGGGATTACAGGCATG AGCCACCGCACCTGGCCTTTTTTTATTTTTGAAACGGAGTCTAGCTCTGT CACCCAGCCTGGAGTGCAGTGCTGTGATCTCGGCTCACTGCAACCTCCAT GTCCCAGGTTCAAGCTATTCTCCTGCCTCAGCCTTCTGAGTAGCTG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp1 HG01891.hp1 others(5): Show HG00735.hp2 HG01109.hp1 HG01891.hp1 HG01952.hp1 HG02965.hp1 HG02976.hp2 HG03139.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0157 a0001c0003t0002g0006 a0001c0003t0002g0046 others(4): Show a0001c0001t0001g0157 a0001c0003t0002g0006 a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0003t0002g0048 a0001c0003t0002g0049 a0001c0003t0002g0050	8	376	0.0213	-295	c.193 others(17): Show c.193+1773_193+2067del		TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24						chr19	TogoVar
VAV2_chr9_133756894_133997324	133827242	CCACTGAG others(288): Show CCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACC ACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCAC TGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTG AGCACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAG TGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTG GGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01123.hp2 NA19064.hp1 others(1): Show HG00544.hp1 HG01123.hp2 NA19064.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0002c0005 a0001c0003 a0002c0001 a0002c0005	a0001c0003t0016 a0002c0001t0001 a0002c0005t0002 a0001c0003t0016 a0002c0001t0001 a0002c0005t0002	a0001c0003t0016g0054 a0002c0001t0001g0063 a0002c0001t0001g0105 others(1): Show a0001c0003t0016g0054 a0002c0001t0001g0063 a0002c0001t0001g0105 a0002c0005t0002g0116	4	200	0.0200	-295	c.449 others(17): Show c.449+6735_449+7029del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
VAV2_chr9_133756894_133997324	133827629	CTGAGTGG others(288): Show CTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACT GAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGA GCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGC ACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGG GGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGG GCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGG	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0077 a0002c0001t0001g0077	1	200	0.0050	-295	c.449 others(17): Show c.449+6348_449+6642del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
ZMPSTE24_chr1_40253236_40299180	40267345	ATTTTATT others(288): Show ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTGAGACAGGGTC TCAGTTTATTGCCTTGCTGGAGTGCAGTGTCACAATCACGGCTCACTGGA GCCTTGACTTCCCAGGCTCAGGCAATCCTGTCACCTCAGTCCCCCAAGTA GCTGGGTCTACAGGTACGCACTATCAGGCCCAGCTAATTTTTAAATTTTT TGTAGAGATGGGGTCTCAACTCACCTTGTTGCCCAGGCTGGTCTTGAATT CCTGGCCTCAAGCGATGCTTCTGTCTCAGTCTCCCAAAGTGCTGGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	394	0.0025	-295	c.271 others(15): Show c.271-440_271-146del		ZMPSTE24	ENSG00000084073.10	transcript	ENST00000372759.4	protein_coding	2/9						chr1	TogoVar
ZNF710_chr15_89996324_90087191	90055853	GCCTGTAA others(288): Show GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGG TCAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCGTCTCTACT AAAAAAATACAAAAATTAGCCAGGCATAGTGGTGCACACCTGTAATCCTA GCTATCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGAGGTGGAGG TTGCAGTGGGCCAAGATCACACCACTACATTCCAGCCTGGGCAACAGAGC AAGACTCCATCTTAAAAAAAAAAAAGGCCAGATGCAGTGGTTCACA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp2 HG02280.hp2 HG02647.hp2	a0001 a0001	a0001c0013 a0001c0014 a0001c0013 a0001c0014	a0001c0013t0004 a0001c0014t0007 a0001c0013t0004 a0001c0014t0007	a0001c0013t0004g0148 a0001c0014t0007g0188 a0001c0013t0004g0148 a0001c0014t0007g0188	2	282	0.0071	-295	c.-28 others(19): Show c.-28-11224_-28-10930del		ZNF710	ENSG00000140548.10	transcript	ENST00000268154.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr15	TogoVar
ACTN2_chr1_236681499_236769631	236756864	GCAGAGTG others(287): Show GCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATACTG CAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGC AGAGGGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATACTACA GAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAG AGTGCCTGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGA GGGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATATACTA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG04204.hp1 HG01168.hp2 HG01169.hp2 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0015 a0001c0003 a0001c0015	a0001c0003t0020 a0001c0015t0016 a0001c0003t0020 a0001c0015t0016	a0001c0003t0020g0122 a0001c0015t0016g0113 a0001c0015t0016g0115 a0001c0003t0020g0122 a0001c0015t0016g0113 a0001c0015t0016g0115	3	344	0.0087	-294	c.215 others(17): Show c.2155-603_2155-310del		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ADARB2_chr10_1172313_1742525	1700999	GCACTCGC others(287): Show GCACTCGCCAACACACACAATCCCACTCCACCAGGAGACCAGGCGCTCGC CAATACACTCAATCCCACTCCACCGGGAGACCAGGCGCTAGTCAATACAC GCAATCCCACTCTACCAGGAGACCGGGCACTCGCCAATACACACAATCCC ACTCCACCGGGAGACCAGGCGCTCGTCAATACACTCAATCCCACTCCACC GGGAGACCAGGCACTCACCAATACACGCAATCCCACTCCACCGGGAGACC AGGCGCTAGTCAATACACGCAATCCCACTCCACCGGGAGACCAGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02027.hp2 HG02257.hp2 others(16): Show HG00408.hp2 HG02027.hp2 HG02257.hp2 HG02622.hp1 HG02735.hp1 HG02897.hp1 HG02970.hp1 HG03540.hp1 NA18945.hp2 NA18967.hp2 NA18983.hp1 NA18988.hp2 NA18989.hp2 NA18995.hp2 NA19011.hp2 NA19043.hp2 NA19086.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0003c0006 a0008c0013	a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 others(13): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 a0001c0001t0023 a0001c0001t0025 a0001c0001t0055 a0001c0001t0058 a0001c0001t0059 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0046 a0002c0002t0062 a0002c0004t0005 a0003c0006t0003 a0008c0013t0020	a0001c0001t0003g0094 a0001c0001t0003g0102 a0001c0001t0010g0013 others(16): Show a0001c0001t0003g0094 a0001c0001t0003g0102 a0001c0001t0010g0013 a0001c0001t0012g0024 a0001c0001t0023g0023 a0001c0001t0025g0036 a0001c0001t0055g0089 a0001c0001t0058g0099 a0001c0001t0059g0092 a0002c0002t0004g0082 a0002c0002t0004g0084 a0002c0002t0004g0088 a0002c0002t0005g0033 a0002c0002t0007g0001 a0002c0002t0046g0056 a0002c0002t0062g0093 a0002c0004t0005g0029 a0003c0006t0003g0090 a0008c0013t0020g0037	19	106	0.1793	-294	c.100 others(19): Show c.100+35758_100+36051del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1701006	CCAACACA others(287): Show CCAACACACACAATCCCACTCCACCAGGAGACCAGGCGCTCGCCAATACA CTCAATCCCACTCCACCGGGAGACCAGGCGCTAGTCAATACACGCAATCC CACTCTACCAGGAGACCGGGCACTCGCCAATACACACAATCCCACTCCAC CGGGAGACCAGGCGCTCGTCAATACACTCAATCCCACTCCACCGGGAGAC CAGGCACTCACCAATACACGCAATCCCACTCCACCGGGAGACCAGGCGCT AGTCAATACACGCAATCCCACTCCACCGGGAGACCAGACGCTAGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02622.hp2 others(5): Show HG01884.hp1 HG01884.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG03209.hp1 HG03540.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0014	a0001c0001t0001 a0001c0001t0049 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0049 a0001c0003t0001 a0001c0007t0033 a0002c0002t0021 a0002c0002t0038 a0002c0014t0008	a0001c0001t0001g0045 a0001c0001t0001g0078 a0001c0001t0049g0040 others(5): Show a0001c0001t0001g0045 a0001c0001t0001g0078 a0001c0001t0049g0040 a0001c0003t0001g0070 a0001c0007t0033g0041 a0002c0002t0021g0035 a0002c0002t0038g0048 a0002c0014t0008g0060	8	106	0.0755	-294	c.100 others(19): Show c.100+35751_100+36044del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111471	GGACACCT others(287): Show GGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCT CCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTA ATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACC AGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACC TGCCCCCCCGGGAACCATCCCTCCTAATCCCACCAGACCACCTGCCCGCC ACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCGCCACA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02630.hp1 NA18940.hp1 others(1): Show HG00621.hp1 HG02630.hp1 NA18940.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0046 a0001c0002t0001 a0001c0002t0006 a0001c0002t0046	a0001c0002t0001g0099 a0001c0002t0001g0120 a0001c0002t0006g0082 others(1): Show a0001c0002t0001g0099 a0001c0002t0001g0120 a0001c0002t0006g0082 a0001c0002t0046g0309	4	368	0.0109	-294	c.401 others(17): Show c.401+8650_401+8943del		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111492	ACCAGACA others(287): Show ACCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACA ACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCC ACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGA CACCTCCCTCCTAATCCCACCAGACAACCTGCCCCCCCGGGAACCATCCC TCCTAATCCCACCAGACCACCTGCCCGCCACGGGCACCTCCCTCCTAATC CCACCAGACAACCTGCCCGCCACAGACACCTCCCTCCTAATCCCT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	368	0.0027	-294	c.401 others(17): Show c.401+8657_401+8950del		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111640	GACACCTC others(287): Show GACACCTCCCTCCTAATCCCACCAGACAACCTGCCCCCCCGGGAACCATC CCTCCTAATCCCACCAGACCACCTGCCCGCCACGGGCACCTCCCTCCTAA TCCCACCAGACAACCTGCCCGCCACAGACACCTCCCTCCTAATCCCTCCA GACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCT GCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCA CAGACACCTCCCTCCTAATGCCTCCAGACCACCTGCCCGCCGTGA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01261.hp2 HG03471.hp1 others(1): Show HG01168.hp2 HG01261.hp2 HG03471.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0002 a0001c0001t0005 a0001c0002t0071 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0071 a0001c0008t0002	a0001c0001t0002g0204 a0001c0001t0005g0192 a0001c0002t0071g0163 others(1): Show a0001c0001t0002g0204 a0001c0001t0005g0192 a0001c0002t0071g0163 a0001c0008t0002g0219	4	368	0.0109	-294	c.401 others(17): Show c.401+8799_401+9092del		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6						chr10	TogoVar
AFAP1_chr4_7753714_7944861	7835132	GGTTACCT others(287): Show GGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCTGCCTTAAGGTTACCT GGGTGGCTCTTGAATGGACTGCGGGCTGCCTTAAGGTTACCTGGGTGGCT CTTGAATGGACTGCGGGCGGCCTTAAGGTTACCTGGGTGGCTCTTGAATG GACTGTGGGCTGCCTTAAGGTTACCTGGGTGGCTCTTGAATGGACTGCGG GCGGCCTCAAGGTTACCTGGGTGGCTCTTGAATGGACTGTGGGCTGTCTT GAGGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCTGCCTTACA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp1 HG00140.hp1 HG01106.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0253 a0001c0004t0011g0270 a0001c0004t0011g0253 a0001c0004t0011g0270	2	318	0.0063	-294	c.726 others(17): Show c.726+3098_726+3391del		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/17						chr4	TogoVar
ANKRD11_chr16_89262630_89495561	89429102	ACGCTCAG others(287): Show ACGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAG ACGTTCTAGTACACAGCAGGGATTCTCAACTCTCACGCTCAGACGTTCTA GTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAG CAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGTACT CTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTC TCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCG	A A	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0244 a0002c0002t0002g0244	1	310	0.0032	-294	c.-14 others(21): Show c.-144-11028_-144-10735del		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12						chr16	TogoVar
ANO7_chr2_241183677_241230976	241205828	GCTGACAG others(287): Show GCTGACAGGTGGGCAGGAGTGCTCCCAGCCTGACACAGGTGGGCAGGAGT GCTACCAGGCTGACACAGGTGGACAGGAGTGCTCCCAGGCTGACATAGGT GGACAGGAGTGCTCCCAGCCTGACAGGTGGACAGGAGTGCTCCCAGGCTG ACACAGGTGGACAGGAGTGCTCCCAGCCTGACACAGGTGGGCAGGAGTGC TCCCAGCCTGACACAGGTGGACAGGAGTGCTCCAAGGCTGACAGGTGGAC AGGAGTGCTCCCAGGTTGACACAAGTGGACAGGAGTGCTCCCAGT	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0003 a0005c0019t0003	a0005c0019t0003g0084 a0005c0019t0003g0084	1	396	0.0025	-294	c.980 others(16): Show c.980+885_980+1178del		ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	10/24					INFO_REALIGN_3_PRIME	chr2	TogoVar
B4GALNT3_chr12_454939_568509	543449	CGGGCATG others(287): Show CGGGCATGGGGTGCTCATCTTCCTGGAGCTGAGGAGCTGGGACGGGCATG GGGTGCTCATCCTCCTGGAACTGAGGAGCTGGGACGGGCATGGGGTGCTC ATCCTCCTGGAACTGAGGAGCTGGGATGGGCATGGGGTGCTCATCCTCCT GGAGCTGAGGAGCTGGGGCGGGCATGGGGTGCTCATCTTCCCGGAGCTGA GGAGCTGGGGCGGGCATGGGGTGCTCATCTTCCTGGAGCTGAGGAGCTGG GACGGGCATGGGGTGCTCATCCTCCTGGAACTGAGGAGCTGGGAT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0004 a0007c0008t0002g0004	1	394	0.0025	-294	c.352 others(15): Show c.352-871_352-578del		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
C19orf12_chr19_29693937_29720261	29719440	ATTTATAT others(287): Show ATTTATATATATAATATACATATTTATATATATATTATATATATTTATAT ATATATTATATTTATATATATTTATATATATTATATATATATTATATATA TAATATATAAATATATTTATATAATATAAATATATATATTTATATAATAT AAATATATATATTTATATATATATAAAATATATATAATATATAAGTTTGG ACAAAGATATAGAATTATATAATATATAAGTTTGGACAAAGATATAGAAT TATATAATATATAATATAATATATCAGTATATATAATTGTACTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0049 a0001c0001t0026g0049	1	418	0.0024	-294	c.-46 others(11): Show c.-4620_-4327del		C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding					4180		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53922501	TCCCAGGT others(287): Show TCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAG TTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGACTGGTCATTGGT GCAGTTGTCCCAGGCCTGGTCATTGGTGCAGTTGTCCCCAGGCCTGGTCA TTGGTGCAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGG TCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGT CTGGTCATTGGTGGGGTTGTCCCAGGCTCGTCATTGGTGGAGTTG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0031 a0001c0001t0015g0031	1	364	0.0028	-294	c.424 others(17): Show c.424+7000_424+7293del		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
CELSR1_chr22_46356174_46542620	46385681	TTTTTTTT others(287): Show TTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTCTCGCCCAGGCTGGAGT GCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAACGCCCACCA CCACGACCGGCTACTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCAT GTTAGCCAGGATGGTCTTGATCTCCTGACCCTGTGATCCGCCCACCTTGG CCTCCCAAATTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0017 a0017	a0017c0020 a0017c0020	a0017c0020t0002 a0017c0020t0002	a0017c0020t0002g0020 a0017c0020t0002g0020	1	104	0.0096	-294	c.673 others(17): Show c.6739+427_6739+720del		CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	19/34						chr22	TogoVar
CHMP1A_chr16_89639435_89662708	89647614	TGCGGGGT others(287): Show TGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCC AGCGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0085 a0001c0001t0012g0085	1	392	0.0026	-294	c.253 others(15): Show c.253-577_253-284del		CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6						chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647774	AGACCCAG others(287): Show AGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGT CCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 NA18971.hp2 others(2): Show HG00423.hp2 HG00597.hp1 NA18971.hp2 NA19010.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0126 a0001c0001t0003g0127 others(1): Show a0001c0001t0003g0013 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128	5	392	0.0128	-294	c.253 others(15): Show c.253-737_253-444del		CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6						chr16	TogoVar
CLIC4_chr1_24740447_24849321	24799917	GGGGGGGG others(287): Show GGGGGGGGTCAGCCCCCCCACCTGGCCAGCCGCCCCGTCTGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCC GGCCAGCTGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01169.hp1 others(9): Show HG00735.hp1 HG00738.hp2 HG01169.hp1 HG01361.hp2 HG02135.hp2 NA18612.hp1 NA18943.hp2 NA18950.hp2 NA18953.hp2 NA19057.hp1 NA19082.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0034 others(9): Show a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0065 a0001c0001t0001g0084 a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0306	12	344	0.0349	-294	c.182 others(17): Show c.182+2074_182+2367del		CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CNOT6_chr5_180489379_180583358	180534612	GGGGGTCC others(287): Show GGGGGTCCGAGAGGCCCTCGGAATCCACCATGGCATGGGCCGGAGTCGCT GGGGTCCGAGAGGCCCTCGGAATCCACCATGGCATGGGCCGGAGTCCCTG GGGTCCGAGAGGCCCTCGGAATCCACCATGGCATGGGCCGGAGTCCCTGG GGTCCGAGAGGCCCTCGGAATCCACCATGGCATGGGCCGGAGTCCCTGGG GTCCGAGAGGCCCTCGGAATCCACCATGGCATGGGCCGGAGTCCCTGGGG TCCGAGAGGCCCTCGGAATCCACCATGGCATGGGCCGGAGTCGCT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0332 a0001c0001t0045g0332	1	334	0.0030	-294	c.112 others(17): Show c.112+5271_112+5564del		CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
COL4A2_chr13_110302284_110518209	110355548	TGTGGGGG others(287): Show TGTGGGGGAGGGCTGTACTAGCTCACCTGTGTGGGGGGAGGGCAGTACCA GCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTG GGGGAGGGCTGCAGTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTACAG CTCACCTGTGTGAGTGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGG GGAGGGCTGCACTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTACAGCT CACCTGTGTGAGTGGGGAGGGCTGCACTAGCTCACCTGTGTGTGG	T T	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18941.hp1 NA18950.hp2 others(4): Show HG02083.hp2 NA18941.hp1 NA18950.hp2 NA18982.hp2 NA18987.hp1 NA19009.hp1 NA19087.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0004 a0001c0024 others(3): Show a0001c0001 a0001c0004 a0001c0024 a0002c0006 a0002c0017 a0006c0027	a0001c0001t0001 a0001c0004t0005 a0001c0024t0003 others(3): Show a0001c0001t0001 a0001c0004t0005 a0001c0024t0003 a0002c0006t0006 a0002c0017t0002 a0006c0027t0007	a0001c0001t0001g0155 a0001c0004t0005g0229 a0001c0024t0003g0087 others(4): Show a0001c0001t0001g0155 a0001c0004t0005g0229 a0001c0024t0003g0087 a0002c0006t0006g0143 a0002c0006t0006g0144 a0002c0017t0002g0295 a0006c0027t0007g0177	7	372	0.0188	-294	c.100 others(17): Show c.100-1922_100-1629del		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COLEC11_chr2_3590112_3649644	3590651	AGGCGGGG others(287): Show AGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC AGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGAG CGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	378	0.0027	-294	c.-45 others(11): Show c.-4543_-4250del		COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding					4460		chr2	TogoVar
CORO2B_chr15_68573993_68732806	68691330	AAAAAAAA others(287): Show AAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00597.hp1 others(3): Show HG00140.hp2 HG00408.hp2 HG00597.hp1 HG01099.hp1 HG02083.hp2 NA19001.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0004c0008t0002	a0001c0001t0001g0188 a0001c0001t0003g0083 a0001c0001t0004g0063 others(3): Show a0001c0001t0001g0188 a0001c0001t0003g0083 a0001c0001t0004g0063 a0001c0001t0004g0090 a0001c0001t0005g0072 a0004c0008t0002g0092	6	256	0.0234	-294	c.217 others(17): Show c.217-3796_217-3503del		CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr15	TogoVar
DGKB_chr7_14140049_14907751	14212134	TTACTCTC others(287): Show TTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCT CATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTT GTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTT ACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCAT GTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGT GATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA19062.hp2 HG02165.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0034 a0001c0003t0002g0028 a0001c0001t0001g0034 a0001c0003t0002g0028	2	148	0.0135	-294	c.212 others(21): Show c.2123-34277_2123-33984del		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DIP2C_chr10_269201_694668	321863	AGTCGGGG others(287): Show AGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCC GTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCG TCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGT CGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTC GGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCG GGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCC	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0018 a0001c0008t0001g0018	1	88	0.0114	-294	c.392 others(19): Show c.3924+4849_3924+5142del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	322092	CGCTGTTA others(287): Show CGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGC GCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCG CTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGC TGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCT GTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTG TTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0016 a0001c0005t0002g0016	1	88	0.0114	-294	c.392 others(19): Show c.3924+4620_3924+4913del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	322963	TGAGAGAC others(287): Show TGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGC GAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCG AGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGA GAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGTGAG AGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCGGCGAGA GACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	88	0.0114	-294	c.392 others(19): Show c.3924+3749_3924+4042del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DLGAP2_chr8_732628_1713476	1691791	TCGGCCCT others(287): Show TCGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCT GGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAA CGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTAC CGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAG GGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGG ATACGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01891.hp2 HG03486.hp1 HG01071.hp2 HG01891.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0014 a0002c0001t0005 a0002c0001t0011 a0001c0003t0014 a0002c0001t0005 a0002c0001t0011	a0001c0003t0014g0020 a0002c0001t0005g0035 a0002c0001t0011g0001 a0001c0003t0014g0020 a0002c0001t0005g0035 a0002c0001t0011g0001	3	40	0.0750	-294	c.279 others(17): Show c.2796+538_2796+831del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137566784	TCTGTCTG others(287): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19079.hp1 NA19009.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0310 a0001c0001t0002g0311	2	340	0.0059	-294	c.641 others(17): Show c.641-1924_641-1631del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137567424	TGGGTGAC others(287): Show TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCCG TGAGGAAGCTCCCCGGGGTGACTCTGTCCGTGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	340	0.0029	-294	c.641 others(17): Show c.641-2564_641-2271del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPP6_chr7_154047398_154899285	154656880	AGCTGCGT others(287): Show AGCTGCGTGGGAGGAGGTGCTCATGGGTGGGTGGAGAGGATGCGTGGGAG GAGGTGCTCATGGGTGGGTGGAGAGGCTGTGTGGGAGGAGGTGCCCAGAG ATGGGTGGAGAGGCTGCGTGGGAGGAGGTGCCCAGAGATGAGTGGAGAGG CTGCGTGGGAGGAGGTGCTCATGGGTGGGTGGAGAGGCTGCGTGGGAGGA GGTGCTCATGGGTGGGTGGAGAGGCTGCGTGGGAGGAGGTGCTCATGGGT GGGTGGAGAGGCTGCGTGGGAGGAGATGCTCGAGTGGGTGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0025 a0001c0003t0008g0025	1	38	0.0263	-294	c.681 others(19): Show c.681-12441_681-12148del		DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
EBF3_chr10_129830233_129969274	129919957	ACCCCGCT others(287): Show ACCCCGCTGTGCAGTCTAGGGCGAGTATCTCCAGGAGGGCCATAAACCCG CCCCACTGTGCGGTCTAGGGCCAGTATCTCCAGGAGGGCCACAAACCCGC CCCGCTGTGCGGTCTAGGGCGAGTATCTCCAGGAGGGCCACAAACCCGCC CCACTGTGCGGTCTAGGGCCAGTATCTCCAGGAGGGCCACAAACCCGCCC CGCTGTGCAGTCTAGGGCGAGTATCTCCAGGAGGGCCACAAACCCGCCCC ACTGTGCGGTCTAGGGCCAGTATCTCCAGGAGGGCCACAAACCCG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02965.hp2 HG02970.hp2 others(5): Show HG01099.hp2 HG02965.hp2 HG02970.hp2 HG03139.hp1 HG03225.hp2 HG03579.hp2 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0020 a0001c0001t0035 a0001c0002t0006	a0001c0001t0001g0108 a0001c0001t0001g0278 a0001c0001t0003g0284 others(5): Show a0001c0001t0001g0108 a0001c0001t0001g0278 a0001c0001t0003g0284 a0001c0001t0007g0192 a0001c0001t0011g0189 a0001c0001t0020g0074 a0001c0001t0035g0282 a0001c0002t0006g0316	8	338	0.0237	-294	c.554 others(19): Show c.554+37007_554+37300del		EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16						chr10	TogoVar
GAL3ST2_chr2_241771822_241809287	241805785	CTCCCCCC others(287): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCA AGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0015	1	314	0.0032	-294	c.16 others(11): Show c.1620_*1913del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1499		chr2	TogoVar
GRAMD4_chr22_46615386_46684785	46631422	AGCCTGTG others(287): Show AGCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACG GCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGG CCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGC CTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGCC TGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGCCT GTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp1 HG02818.hp1 others(3): Show HG02723.hp1 HG02809.hp1 HG02818.hp1 HG03225.hp2 HG03516.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0008g0010 others(3): Show a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0008g0011 a0001c0001t0008g0012 a0001c0001t0008g0015	6	328	0.0183	-294	c.162 others(17): Show c.162+4748_162+5041del		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
HDAC4_chr2_239043168_239406020	239068848	ACACTTGC others(287): Show ACACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTG CACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGC ACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCA CTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCAC TTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCACT TGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0205 a0001c0001t0006g0205	1	242	0.0041	-294	c.275 others(17): Show c.2751-535_2751-242del		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	22/26						chr2	TogoVar
HDAC4_chr2_239043168_239406020	239184585	GGGGGGGG others(287): Show GGGGGGGGTCCCTCAGTGTCTGTCCTGGAGGCTGTGCCCTATGATGGGGG GTCCCTCAGTGTCTGTCCTGGAGGTTGTACCCTATGGGGGAGGTCCCTCA GTGTCTGTCCCGGAGGATGTGTCCTATGGGGGGGTCCCTCAGTGTCTGTC CTGGAGACTGTGTCCTATGGTGGGGGGTCCCTCAGTGTCTGCCCTGGAGG ATGTGTCCTATGGGGGGGTCCCTCAGTGTCTGTCCTGGAGACTGTGTCCT ATGGTGGGGGGTCCCTCAGTGTCTGCCCTGGAGGATGTATCCTAT	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0180 a0001c0002t0001g0181	2	242	0.0083	-294	c.339 others(17): Show c.339+4954_339+5247del		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	4/26						chr2	TogoVar
HDAC9_chr7_18490749_19007416	18786502	CTTCCTCT others(287): Show CTTCCTCTCTCTCATGTACTTTTTGCTCACATACACTTCCTGTGTCCCCT GTTTCTGTCACACCTCTTGGGTATGGCTGGCTGGCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTTCTTCCCTCCT TCTTTCCTCCCTTCCTCCCTTCCTTCCTTTTTGCTCACATATCCCTTTCT GTGTCCTCGGTTTCTGTTGCATGCGCCTCTTGAGTCTAGCTTTCTTTCCT TCCTTTTCTTTTTTCTCTCTTTCTTTCTTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19240.hp2 NA20300.hp1 HG02055.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0037 a0001c0003t0007 a0001c0004t0018 a0001c0001t0037 a0001c0003t0007 a0001c0004t0018	a0001c0001t0037g0050 a0001c0003t0007g0030 a0001c0004t0018g0145 a0001c0001t0037g0050 a0001c0003t0007g0030 a0001c0004t0018g0145	3	156	0.0192	-294	c.221 others(19): Show c.2215-6837_2215-6544del		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HELQ_chr4_83402346_83460823	83439267	ATGTTGGC others(287): Show ATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCCGCACACCTT GGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGTCTT CTTTTTTTTTTTTGATGGAGTCTCGCTGTGTCACGCAGGCTGGAGTGCAG TAGTGCGATCTCAGCTAACTGCAACCTCCGCCTCCCGGGTCCAACAGATT CTCATGTCTCAGCCTCCCCAGTAGCTGGGATTATAGGTGCAAGGCACCAC ACCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18906.hp1 HG03130.hp2 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0237 a0003c0003t0002g0242 a0003c0003t0002g0237 a0003c0003t0002g0242	2	316	0.0063	-294	c.180 others(17): Show c.1808+302_1808+595del		HELQ	ENSG00000163312.11	transcript	ENST00000295488.8	protein_coding	8/17						chr4	TogoVar
IRS2_chr13_109747695_109791583	109765530	ACCACCCT others(287): Show ACCACCCTGACTCCAACTCCCCACCAAGCATGTAGATATCCCAGCCTCAT CCACCTTGGATCCAACTCCCCACCAAGCATGTAGATATCCCAGCCTCATC CACCCTGACTCCAACTCCCCACCAAGCATGTAGATATCCCAGCCTCCTCC ACCTTGGCTCCAACTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCA CTTTGGCTCCTCCTCCCCACCAAGCATGTAGATATCCCAGCCTCAACCAC CCTGACTCCGACTCCCCACCAAGCATGTAGATATCCCAGCCTCAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG02523.hp2 others(10): Show HG00738.hp1 HG01069.hp1 HG02523.hp2 HG02735.hp1 NA18940.hp2 NA18950.hp1 NA18953.hp2 NA18963.hp2 NA18980.hp2 NA18984.hp1 NA19011.hp2 NA19057.hp1 NA19080.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0002c0002t0002 a0004c0006t0002	a0001c0001t0001g0119 a0001c0001t0002g0063 a0001c0001t0002g0064 others(8): Show a0001c0001t0001g0119 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0016g0099 a0002c0002t0002g0013 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0004c0006t0002g0186	13	398	0.0327	-294	c.401 others(19): Show c.4013-9516_4013-9223del		IRS2	ENSG00000185950.9	transcript	ENST00000375856.5	protein_coding	1/1						chr13	TogoVar
KIAA1671_chr22_24947716_25202448	25000198	TTTTTTTT others(287): Show TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCGCGCCAC TACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTT TTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18952.hp1 NA18995.hp1 HG01952.hp2 NA18952.hp1 NA18995.hp1	a0001 a0001	a0001c0004 a0001c0034 a0001c0037 a0001c0004 a0001c0034 a0001c0037	a0001c0004t0013 a0001c0034t0003 a0001c0037t0003 a0001c0004t0013 a0001c0034t0003 a0001c0037t0003	a0001c0004t0013g0196 a0001c0034t0003g0177 a0001c0037t0003g0058 a0001c0004t0013g0196 a0001c0034t0003g0177 a0001c0037t0003g0058	3	254	0.0118	-294	c.-20 others(21): Show c.-207-25421_-207-25128del		KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
KLF18_chr1_44132821_44146631	44140023	TAGTAGAG others(287): Show TAGTAGAGGTTGTCATCTGCCCCCCGTAGAGGGCCTGGTTACCAGTGGAG GTTGTCATCTGCTCTCCACAGAGGTTCTGGTTACCAGTGGAGGTCATCAT CTGCCCCCAGTAGAGGGTCTGGTTACCAGTGGAGGTCATCATCTGCCCCC CGTAGAGGGCCTGGTTACCAGTGGAGGTCGTCACCTGCTCCCCACAGAGG GTCTGGTTACTAGTGGAGGTCGTCGTCTGCTCTCCACAGAGGGTCTGGTT ACTAGTGGAGGTCATCACTTGCTCTCCACAGAGGTTCTGGTTACC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00280.hp1 HG01261.hp2 HG01978.hp1 others(12): Show HG00280.hp1 HG01261.hp2 HG01978.hp1 HG02004.hp2 HG02148.hp2 HG02293.hp1 NA18939.hp2 NA18943.hp1 NA18951.hp2 NA18962.hp1 NA18975.hp1 NA18995.hp2 NA19007.hp2 NA19060.hp1 NA19070.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0000 a0006c0006t0000	a0006c0006t0000g0006 a0006c0006t0000g0006	15	428	0.0351	-294	c.131 others(9): Show c.1315_1608del	p.Gly others(13): Show p.Gly439_Thr536del	KLF18	ENSG00000283039.1	transcript	ENST00000634670.1	protein_coding	1/2	1608/3159	1315/3159	439/1052			chr1	TogoVar
MLPH_chr2_237482251_237560322	237542921	TGGGGACA others(287): Show TGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAG TGGGGGGACAGTGGTGAGTGGGGGCACAGTGGTGAGTGGAGACAGTGGTG AGTTGGGGGACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAG TGAGTGGGGAGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGTACAGT GGTGAGTGGGCACAGTAGTGAGTAGGGGGACAGTGGTGAATGGGGGACAG TGGTGAGTGGGGGACAGTGGTGAGTGGGGGCACAGTGGTGAGTTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0149 a0001c0001t0004g0149	1	286	0.0035	-294	c.153 others(17): Show c.1539+282_1539+575del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237542989	TGGGGGCA others(287): Show TGGGGGCACAGTGGTGAGTGGAGACAGTGGTGAGTTGGGGGACAGTAGTG AGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGAGACAGTGG TGAGTGGGGACAGTGGTGAGTGGGGGTACAGTGGTGAGTGGGCACAGTAG TGAGTAGGGGGACAGTGGTGAATGGGGGACAGTGGTGAGTGGGGGACAGT GGTGAGTGGGGGCACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGCACA GTAGTGAGTAGGGGGACAGTGGTGAATGGGGGACAGTGGTGAATG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0256 a0003c0003t0002g0256	1	286	0.0035	-294	c.153 others(17): Show c.1539+335_1539+628del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543276	GGTGAATG others(287): Show GGTGAATGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGCACA GTGGTGAGTTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGA CAGTGGTGAGTGGGGGAACAGTGGTGAGTGGGGGACAGTAGTGAGTGGGG GACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGG GGCACGGTAGTGACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGTGAG TGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02145.hp1 HG02896.hp1 HG00738.hp1 HG02145.hp1 HG02896.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0011 a0003c0003t0001 a0003c0003t0005 a0002c0002t0011 a0003c0003t0001 a0003c0003t0005	a0002c0002t0011g0082 a0003c0003t0001g0267 a0003c0003t0005g0266 a0002c0002t0011g0082 a0003c0003t0001g0267 a0003c0003t0005g0266	3	286	0.0105	-294	c.153 others(17): Show c.1539+622_1539+915del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543484	AGTGACTG others(287): Show AGTGACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGAC AGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGA CAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGGACAGTAGTGAGTGGGG GACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGG GCGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGT GGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0229 a0003c0003t0001g0229	1	286	0.0035	-294	c.153 others(18): Show c.1539+830_1539+1123del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
NAPSA_chr19_50353477_50370639	50364182	ATGGTGAC others(287): Show ATGGTGACTCACGCCTGTAATCCCAGCACTTTCAGAGGCAGGAGAATGGT GTCAGCCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCAC TCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAGGCCAGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGCGAGGCT GAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAC TGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	350	0.0029	-294	c.83+ others(15): Show c.83+1063_83+1356del		NAPSA	ENSG00000131400.9	transcript	ENST00000253719.7	protein_coding	1/8						chr19	TogoVar

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Search Results (Total: 10000 hits)