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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Select column to sort.

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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
AP3S2_chr15_89825599_89898994	89859164	G G	GTCCT GTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(224): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19086.hp1 NA19091.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0003t0019 a0002c0002t0013 a0003c0004t0016	a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 others(224): Show a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0124 a0001c0001t0001g0142 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0244 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0001g0294 a0001c0001t0001g0300 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0095 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0235 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0286 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0004g0188 a0001c0001t0004g0242 a0001c0001t0004g0245 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0251 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0260 a0001c0001t0004g0275 a0001c0001t0004g0281 a0001c0001t0004g0285 a0001c0001t0004g0290 a0001c0001t0006g0149 a0001c0001t0006g0205 a0001c0001t0006g0210 a0001c0001t0006g0223 a0001c0001t0006g0225 a0001c0001t0006g0231 a0001c0001t0006g0238 a0001c0001t0006g0283 a0001c0001t0006g0284 a0001c0001t0006g0288 a0001c0001t0007g0011 a0001c0001t0009g0306 a0001c0001t0009g0307 a0001c0001t0009g0308 a0001c0001t0009g0309 a0001c0001t0010g0020 a0001c0001t0010g0028 a0001c0001t0010g0045 a0001c0001t0010g0052 a0001c0001t0011g0026 a0001c0001t0011g0031 a0001c0001t0011g0175 a0001c0001t0011g0212 a0001c0001t0012g0295 a0001c0001t0012g0296 a0001c0001t0012g0311 a0001c0001t0014g0002 a0001c0001t0014g0004 a0001c0001t0014g0010 a0001c0001t0016g0301 a0001c0001t0016g0302 a0001c0001t0019g0229 a0001c0001t0020g0198 a0001c0001t0020g0200 a0001c0001t0021g0150 a0001c0001t0021g0236 a0001c0001t0022g0029 a0001c0001t0022g0160 a0001c0001t0023g0305 a0001c0001t0029g0178 a0001c0001t0030g0055 a0001c0001t0031g0250 a0001c0001t0032g0234 a0001c0001t0033g0191 a0001c0001t0034g0181 a0001c0001t0036g0053 a0001c0001t0037g0038 a0001c0001t0038g0042 a0001c0001t0039g0064 a0001c0001t0040g0237 a0001c0001t0042g0256 a0001c0001t0043g0184 a0001c0001t0044g0185 a0001c0001t0045g0303 a0001c0003t0019g0287 a0002c0002t0013g0186 a0002c0002t0013g0187 a0002c0002t0013g0310 a0003c0004t0016g0304	227	312	0.7276	4	c.345 others(23): Show c.345+12307_345+12310dupAGGA	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89859399	C C	CTTTT CTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(200): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19086.hp1 NA19091.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0002c0002t0013	a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 others(200): Show a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0124 a0001c0001t0001g0142 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0244 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0001g0300 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0095 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0235 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0286 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0004g0188 a0001c0001t0004g0242 a0001c0001t0004g0245 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0251 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0260 a0001c0001t0004g0275 a0001c0001t0004g0281 a0001c0001t0004g0285 a0001c0001t0004g0290 a0001c0001t0006g0149 a0001c0001t0006g0205 a0001c0001t0006g0210 a0001c0001t0006g0223 a0001c0001t0006g0225 a0001c0001t0006g0231 a0001c0001t0006g0283 a0001c0001t0006g0284 a0001c0001t0006g0288 a0001c0001t0009g0306 a0001c0001t0009g0307 a0001c0001t0009g0308 a0001c0001t0009g0309 a0001c0001t0010g0020 a0001c0001t0010g0028 a0001c0001t0010g0045 a0001c0001t0010g0052 a0001c0001t0011g0026 a0001c0001t0011g0031 a0001c0001t0011g0175 a0001c0001t0011g0212 a0001c0001t0014g0002 a0001c0001t0014g0004 a0001c0001t0014g0010 a0001c0001t0019g0229 a0001c0001t0020g0198 a0001c0001t0020g0200 a0001c0001t0021g0150 a0001c0001t0021g0236 a0001c0001t0022g0029 a0001c0001t0022g0160 a0001c0001t0023g0305 a0001c0001t0029g0178 a0001c0001t0030g0055 a0001c0001t0031g0250 a0001c0001t0032g0234 a0001c0001t0033g0191 a0001c0001t0034g0181 a0001c0001t0036g0053 a0001c0001t0037g0038 a0001c0001t0038g0042 a0001c0001t0039g0064 a0001c0001t0040g0237 a0001c0001t0042g0256 a0002c0002t0013g0186 a0002c0002t0013g0187 a0002c0002t0013g0310	203	312	0.6506	4	c.345 others(23): Show c.345+12072_345+12075dupAAAA	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89894969	C C	CATAT CATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01891.hp2 HG02451.hp1 others(9): Show HG01192.hp1 HG01891.hp2 HG02451.hp1 HG03209.hp1 HG03471.hp1 NA18942.hp1 NA18990.hp2 NA18995.hp2 NA19007.hp1 NA19056.hp2 NA19068.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0036 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038	a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 others(9): Show a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0142 a0001c0001t0003g0058 a0001c0001t0036g0053 a0001c0001t0037g0038 a0001c0001t0038g0042	12	312	0.0385	4	c.-10 others(15): Show c.-1021_-1020insATAT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding		976		chr15	TogoVar
AP4E1_chr15_50903683_51010895	50919535	A A	AAAAT AAAAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03098.hp2 HG03491.hp1 others(3): Show HG00609.hp1 HG03098.hp2 HG03491.hp1 HG03492.hp2 NA19066.hp2 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0003t0003 a0002c0002t0002 a0002c0003t0003	a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0003t0003g0127 others(3): Show a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0003t0003g0127 a0002c0003t0003g0132 a0002c0003t0003g0133 a0002c0003t0003g0134	6	392	0.0153	4	c.346 others(21): Show c.346+4003_346+4006dupATAA	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50962889	C C	CAAAA CAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02300.hp2 others(9): Show HG01891.hp2 HG02257.hp1 HG02300.hp2 HG02451.hp2 HG02818.hp1 HG02922.hp1 HG02965.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp1 NA18979.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0006 a0001c0001 a0002c0003 a0002c0006	a0001c0001t0001 a0001c0001t0004 a0002c0003t0003 others(4): Show a0001c0001t0001 a0001c0001t0004 a0002c0003t0003 a0002c0003t0014 a0002c0003t0020 a0002c0003t0022 a0002c0006t0015	a0001c0001t0001g0002 a0001c0001t0001g0208 a0001c0001t0004g0367 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0208 a0001c0001t0004g0367 a0001c0001t0004g0385 a0001c0001t0004g0387 a0002c0003t0003g0031 a0002c0003t0014g0017 a0002c0003t0014g0018 a0002c0003t0020g0008 a0002c0003t0022g0007 a0002c0006t0015g0347	12	392	0.0306	4	c.185 others(23): Show c.1851+4119_1851+4122dupAAAA	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50964955	C C	CCACA CCACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00609.hp1 others(62): Show HG00099.hp2 HG00408.hp2 HG00609.hp1 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01261.hp1 HG01515.hp2 HG01517.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02486.hp2 HG02622.hp2 HG02698.hp1 HG02895.hp2 HG02897.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18946.hp1 NA18947.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp2 NA18965.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18993.hp2 NA19000.hp2 NA19004.hp1 NA19030.hp1 NA19057.hp1 NA19058.hp1 NA19070.hp1 NA19074.hp2 NA19091.hp2 NA20752.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0011	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0006c0012 a0011c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0002c0002t0002 a0002c0003t0003 a0002c0003t0013 a0006c0012t0001 a0011c0009t0003	a0001c0001t0001g0196 a0001c0001t0001g0258 a0001c0001t0001g0269 others(61): Show a0001c0001t0001g0196 a0001c0001t0001g0258 a0001c0001t0001g0269 a0001c0001t0001g0323 a0001c0001t0001g0343 a0001c0001t0003g0327 a0001c0001t0005g0306 a0001c0001t0009g0319 a0001c0001t0009g0320 a0002c0002t0002g0014 a0002c0002t0002g0061 a0002c0003t0003g0126 a0002c0003t0003g0127 a0002c0003t0003g0128 a0002c0003t0003g0129 a0002c0003t0003g0130 a0002c0003t0003g0131 a0002c0003t0003g0132 a0002c0003t0003g0133 a0002c0003t0003g0134 a0002c0003t0003g0135 a0002c0003t0003g0136 a0002c0003t0003g0137 a0002c0003t0003g0138 a0002c0003t0003g0139 a0002c0003t0003g0140 a0002c0003t0003g0142 a0002c0003t0003g0143 a0002c0003t0003g0144 a0002c0003t0003g0146 a0002c0003t0003g0147 a0002c0003t0003g0149 a0002c0003t0003g0150 a0002c0003t0003g0151 a0002c0003t0003g0152 a0002c0003t0003g0153 a0002c0003t0003g0154 a0002c0003t0003g0155 a0002c0003t0003g0156 a0002c0003t0003g0157 a0002c0003t0003g0158 a0002c0003t0003g0159 a0002c0003t0003g0160 a0002c0003t0003g0162 a0002c0003t0003g0163 a0002c0003t0003g0165 a0002c0003t0003g0166 a0002c0003t0003g0167 a0002c0003t0003g0168 a0002c0003t0003g0169 a0002c0003t0003g0171 a0002c0003t0003g0172 a0002c0003t0003g0173 a0002c0003t0003g0175 a0002c0003t0003g0177 a0002c0003t0003g0178 a0002c0003t0003g0179 a0002c0003t0003g0180 a0002c0003t0003g0181 a0002c0003t0003g0182 a0002c0003t0003g0183 a0002c0003t0013g0001 a0006c0012t0001g0289 a0011c0009t0003g0161	65	392	0.1658	4	c.185 others(23): Show c.1852-3274_1852-3271dupACAC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50982086	C C	CAAAA CAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG01891.hp2 others(7): Show HG00735.hp1 HG01109.hp2 HG01891.hp2 HG02027.hp2 HG02486.hp2 HG04115.hp1 NA18943.hp2 NA18947.hp2 NA18956.hp2 NA19000.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0022 a0002c0003t0003 a0002c0003t0022	a0002c0003t0003g0147 a0002c0003t0003g0158 a0002c0003t0003g0160 others(7): Show a0002c0003t0003g0147 a0002c0003t0003g0158 a0002c0003t0003g0160 a0002c0003t0003g0167 a0002c0003t0003g0169 a0002c0003t0003g0178 a0002c0003t0003g0179 a0002c0003t0003g0180 a0002c0003t0003g0194 a0002c0003t0022g0007	10	392	0.0255	4	c.196 others(23): Show c.1967-1916_1967-1913dupAAAA	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4S1_chr14_31020649_31101450	31028596	T T	TACAC TACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00544.hp2 others(54): Show HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00609.hp2 HG00673.hp2 HG01081.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01346.hp2 HG01884.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp2 HG02165.hp1 HG02602.hp2 HG02647.hp1 HG02698.hp2 HG03017.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03654.hp2 HG03834.hp2 HG04184.hp2 HG04199.hp1 NA18939.hp1 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18956.hp2 NA18968.hp2 NA18969.hp1 NA18985.hp2 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19057.hp1 NA19062.hp1 NA19065.hp1 NA19068.hp1 NA19081.hp1 NA19082.hp2 NA19091.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0031 a0001c0001t0040 a0001c0001t0044	a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 others(54): Show a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0003g0130 a0001c0001t0004g0203 a0001c0001t0005g0279 a0001c0001t0005g0305 a0001c0001t0006g0327 a0001c0001t0006g0328 a0001c0001t0013g0301 a0001c0001t0013g0317 a0001c0001t0015g0263 a0001c0001t0031g0326 a0001c0001t0040g0323 a0001c0001t0044g0131	57	346	0.1647	4	c.-72 others(21): Show c.-72+2829_-72+2832dupCACA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31032523	A A	ATTTT ATTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(45): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00639.hp2 HG00673.hp1 HG00741.hp2 HG01074.hp2 HG01192.hp2 HG01433.hp1 HG02040.hp2 HG02083.hp2 HG02135.hp1 HG02258.hp2 HG02280.hp2 HG03041.hp1 HG03486.hp2 HG03540.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp1 NA18612.hp2 NA18906.hp1 NA18942.hp2 NA18945.hp1 NA18947.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18972.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18994.hp2 NA19000.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19058.hp1 NA19065.hp2 NA19067.hp1 NA19076.hp2 NA19078.hp1 NA19088.hp1 NA19090.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0049	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0192 others(44): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0240 a0001c0001t0001g0289 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0277 a0001c0001t0004g0261 a0001c0001t0005g0241 a0001c0001t0005g0242 a0001c0001t0007g0208 a0001c0001t0021g0001 a0001c0001t0022g0167 a0001c0001t0023g0181 a0001c0001t0024g0190 a0001c0001t0025g0186 a0001c0001t0026g0194 a0001c0001t0027g0164 a0001c0001t0028g0193 a0001c0001t0029g0243 a0001c0001t0049g0229	48	346	0.1387	4	c.-72 others(21): Show c.-72+6748_-72+6751dupTTTT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31039570	T T	TTTTG TTTTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01192.hp1 HG02055.hp2 others(2): Show HG00544.hp2 HG01192.hp1 HG02055.hp2 HG02486.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0019 a0001c0001t0001 a0001c0001t0006 a0001c0001t0019	a0001c0001t0001g0315 a0001c0001t0001g0319 a0001c0001t0001g0322 others(2): Show a0001c0001t0001g0315 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0006g0017 a0001c0001t0019g0007	5	346	0.0145	4	c.-72 others(23): Show c.-72+13784_-72+13785insTTGT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31049464	T T	TACAC TACAC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18999.hp2 NA19075.hp1 NA18987.hp2 NA18999.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 a0001c0001t0001 a0001c0001t0008 a0001c0001t0017	a0001c0001t0001g0063 a0001c0001t0008g0022 a0001c0001t0017g0077 a0001c0001t0001g0063 a0001c0001t0008g0022 a0001c0001t0017g0077	3	346	0.0087	4	c.-71 others(23): Show c.-71-16661_-71-16660insCACA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31049474	T T	TACAC TACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG01256.hp1 others(3): Show HG00323.hp2 HG00733.hp2 HG01256.hp1 HG01258.hp1 HG02970.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0043	a0001c0001t0001g0098 a0001c0001t0003g0002 a0001c0001t0003g0245 others(2): Show a0001c0001t0001g0098 a0001c0001t0003g0002 a0001c0001t0003g0245 a0001c0001t0005g0108 a0001c0001t0043g0204	6	346	0.0173	4	c.-71 others(23): Show c.-71-16620_-71-16617dupCACA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31058517	C C	CTGTG CTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG02080.hp2 others(3): Show HG00140.hp1 HG00280.hp1 HG02080.hp2 HG02602.hp1 HG03704.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0015	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0004g0042 others(3): Show a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0004g0042 a0001c0001t0004g0044 a0001c0001t0007g0266 a0001c0001t0015g0211	6	346	0.0173	4	c.-71 others(21): Show c.-71-7603_-71-7600dupGTGT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31058527	A A	ATGTG ATGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01123.hp2 HG01346.hp1 others(2): Show HG00642.hp2 HG01123.hp2 HG01346.hp1 HG03195.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0001 a0001c0001t0004 a0001c0001t0018	a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0155 others(2): Show a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0155 a0001c0001t0004g0278 a0001c0001t0018g0205	5	346	0.0145	4	c.-71 others(21): Show c.-71-7553_-71-7550dupGTGT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31074324	C C	CAAAT CAAAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02040.hp1 HG02486.hp1 others(11): Show HG01106.hp2 HG02040.hp1 HG02486.hp1 HG02572.hp2 HG02683.hp1 HG03209.hp1 HG03579.hp2 HG03704.hp2 HG04184.hp1 NA18986.hp2 NA18995.hp1 NA19043.hp2 NA19057.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0014	a0001c0001t0001g0045 a0001c0001t0001g0115 a0001c0001t0001g0270 others(11): Show a0001c0001t0001g0045 a0001c0001t0001g0115 a0001c0001t0001g0270 a0001c0001t0001g0332 a0001c0001t0002g0162 a0001c0001t0004g0216 a0001c0001t0007g0157 a0001c0001t0007g0161 a0001c0001t0007g0208 a0001c0001t0007g0266 a0001c0001t0007g0268 a0001c0001t0014g0158 a0001c0001t0014g0159 a0001c0001t0014g0160	14	346	0.0405	4	c.294 others(21): Show c.294+1391_294+1394dupTAAA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31083496	C C	CTTTT CTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01175.hp1 HG02080.hp1 others(31): Show HG01106.hp2 HG01175.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02257.hp2 HG02896.hp1 HG03239.hp1 HG03579.hp2 HG03654.hp2 HG03831.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 NA18747.hp1 NA18947.hp2 NA18950.hp2 NA18956.hp2 NA18957.hp2 NA18968.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp2 NA18994.hp1 NA19000.hp1 NA19003.hp2 NA19009.hp2 NA19011.hp1 NA19057.hp1 NA19060.hp2 NA19068.hp2 NA19082.hp2 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0018	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 others(31): Show a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0283 a0001c0001t0001g0289 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0314 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0001g0324 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0005g0226 a0001c0001t0005g0279 a0001c0001t0007g0157 a0001c0001t0007g0161 a0001c0001t0007g0208 a0001c0001t0007g0267 a0001c0001t0008g0022 a0001c0001t0016g0198 a0001c0001t0018g0101	34	346	0.0983	4	c.306 others(21): Show c.306+2935_306+2938dupTTTT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31086410	A A	ATTTG ATTTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03041.hp1 HG03486.hp2 HG02818.hp1 HG03041.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0005 a0001c0001t0001g0240 a0001c0001t0005g0084 a0001c0001t0001g0005 a0001c0001t0001g0240 a0001c0001t0005g0084	3	346	0.0087	4	c.306 others(21): Show c.306+5850_306+5853dupGTTT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP5B1_chr11_65768898_65785976	65769257	C C	CAAAA CAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02055.hp2 HG03471.hp1 others(5): Show HG00423.hp2 HG02055.hp2 HG03471.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp2 NA18977.hp1 NA19003.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0007 a0004c0005 a0001c0001 a0002c0007 a0004c0005	a0001c0001t0034 a0002c0007t0002 a0004c0005t0006 a0001c0001t0034 a0002c0007t0002 a0004c0005t0006	a0001c0001t0034g0044 a0002c0007t0002g0006 a0004c0005t0006g0008 a0001c0001t0034g0044 a0002c0007t0002g0006 a0004c0005t0006g0008	8	424	0.0189	4	c.85 others(15): Show c.8598_*8599insTTTT	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding		4640		chr11	TogoVar
AP5B1_chr11_65768898_65785976	65783841	A A	AAAAT AAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0014 a0015 a0016	a0001c0001 a0001c0004 a0001c0006 others(21): Show a0001c0001 a0001c0004 a0001c0006 a0001c0008 a0001c0014 a0001c0019 a0001c0020 a0001c0021 a0001c0028 a0002c0003 a0002c0007 a0002c0025 a0002c0026 a0003c0002 a0003c0010 a0003c0022 a0005c0011 a0006c0029 a0007c0027 a0008c0024 a0009c0023 a0014c0013 a0015c0012 a0016c0030	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(44): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0025 a0001c0001t0035 a0001c0001t0036 a0001c0001t0041 a0001c0001t0045 a0001c0004t0002 a0001c0004t0016 a0001c0004t0018 a0001c0004t0020 a0001c0004t0040 a0001c0006t0005 a0001c0006t0029 a0001c0008t0001 a0001c0014t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0023 a0001c0028t0023 a0002c0003t0002 a0002c0003t0039 a0002c0007t0002 a0002c0025t0002 a0002c0026t0002 a0003c0002t0003 a0003c0002t0007 a0003c0002t0011 a0003c0002t0019 a0003c0002t0022 a0003c0002t0026 a0003c0002t0030 a0003c0002t0031 a0003c0002t0038 a0003c0002t0042 a0003c0010t0017 a0003c0022t0003 a0005c0011t0002 a0006c0029t0002 a0007c0027t0002 a0008c0024t0007 a0009c0023t0003 a0014c0013t0001 a0015c0012t0002 a0016c0030t0001	a0001c0001t0001g0001 a0001c0001t0004g0004 a0001c0001t0009g0009 others(44): Show a0001c0001t0001g0001 a0001c0001t0004g0004 a0001c0001t0009g0009 a0001c0001t0012g0014 a0001c0001t0025g0028 a0001c0001t0035g0045 a0001c0001t0036g0046 a0001c0001t0041g0048 a0001c0001t0045g0066 a0001c0004t0002g0005 a0001c0004t0016g0018 a0001c0004t0018g0020 a0001c0004t0020g0022 a0001c0004t0040g0032 a0001c0006t0005g0007 a0001c0006t0029g0038 a0001c0008t0001g0023 a0001c0014t0001g0039 a0001c0019t0001g0052 a0001c0020t0001g0053 a0001c0021t0023g0033 a0001c0028t0023g0034 a0002c0003t0002g0002 a0002c0003t0039g0062 a0002c0007t0002g0006 a0002c0025t0002g0061 a0002c0026t0002g0063 a0003c0002t0003g0003 a0003c0002t0007g0012 a0003c0002t0011g0013 a0003c0002t0019g0021 a0003c0002t0022g0026 a0003c0002t0026g0029 a0003c0002t0030g0056 a0003c0002t0031g0057 a0003c0002t0038g0058 a0003c0002t0042g0059 a0003c0010t0017g0019 a0003c0022t0003g0054 a0005c0011t0002g0027 a0006c0029t0002g0035 a0007c0027t0002g0064 a0008c0024t0007g0060 a0009c0023t0003g0055 a0014c0013t0001g0037 a0015c0012t0002g0036 a0016c0030t0001g0065	281	424	0.6627	4	c.-32 others(15): Show c.-3251_-3250insATTT	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding		2866		chr11	TogoVar
AP5M1_chr14_57263971_57303742	57300718	A A	ATTTT ATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG02486.hp2 HG02896.hp1 others(2): Show HG00733.hp1 HG02486.hp2 HG02896.hp1 HG02897.hp1 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0007c0008 a0001c0002 a0007c0008	a0001c0002t0002 a0001c0002t0007 a0007c0008t0003 a0001c0002t0002 a0001c0002t0007 a0007c0008t0003	a0001c0002t0002g0003 a0001c0002t0002g0040 a0001c0002t0007g0039 others(1): Show a0001c0002t0002g0003 a0001c0002t0002g0040 a0001c0002t0007g0039 a0007c0008t0003g0020	5	280	0.0179	4	c.11 others(17): Show c.11834_*11835insTTTT	AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding		1977		chr14	TogoVar
AP5S1_chr20_3815547_3833838	3816995	C C	CTTTT CTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(61): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00639.hp1 HG00733.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01891.hp2 HG01981.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG04228.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18984.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0020 a0001c0001t0026 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0040 a0001c0001t0061	a0001c0001t0001g0001 a0001c0001t0004g0003 a0001c0001t0004g0013 others(17): Show a0001c0001t0001g0001 a0001c0001t0004g0003 a0001c0001t0004g0013 a0001c0001t0005g0003 a0001c0001t0006g0006 a0001c0001t0008g0003 a0001c0001t0009g0003 a0001c0001t0009g0016 a0001c0001t0009g0029 a0001c0001t0011g0002 a0001c0001t0015g0003 a0001c0001t0015g0017 a0001c0001t0020g0003 a0001c0001t0026g0003 a0001c0001t0033g0003 a0001c0001t0034g0016 a0001c0001t0035g0003 a0001c0001t0037g0028 a0001c0001t0040g0003 a0001c0001t0061g0002	64	412	0.1553	4	c.-37 others(15): Show c.-3780_-3779insTTTT	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		3551		chr20	TogoVar
AP5S1_chr20_3815547_3833838	3818084	C C	CAAAA CAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00544.hp2 others(93): Show HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01169.hp1 HG01243.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01981.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02155.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp1 HG03688.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18945.hp1 NA18951.hp2 NA18954.hp1 NA18964.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18999.hp2 NA19002.hp1 NA19007.hp2 NA19011.hp2 NA19043.hp1 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19075.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp2 NA19087.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0005c0006t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0004g0002 others(24): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0013 a0001c0001t0004g0032 a0001c0001t0005g0003 a0001c0001t0008g0003 a0001c0001t0009g0003 a0001c0001t0012g0007 a0001c0001t0014g0003 a0001c0001t0015g0003 a0001c0001t0016g0002 a0001c0001t0017g0002 a0001c0001t0020g0003 a0001c0001t0021g0002 a0001c0001t0022g0002 a0001c0001t0023g0002 a0001c0001t0026g0003 a0001c0001t0033g0003 a0001c0001t0035g0003 a0001c0001t0037g0028 a0001c0001t0040g0003 a0001c0001t0041g0002 a0001c0001t0042g0002 a0001c0001t0043g0002 a0005c0006t0002g0002	96	412	0.2330	4	c.-26 others(15): Show c.-2691_-2690insAAAA	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2462		chr20	TogoVar
AP5S1_chr20_3815547_3833838	3824931	C C	CAAAA CAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG02155.hp1 HG02258.hp1 others(6): Show HG01109.hp1 HG02155.hp1 HG02258.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03540.hp2 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0001c0001t0028 a0001c0001t0043 others(2): Show a0001c0001t0010 a0001c0001t0028 a0001c0001t0043 a0001c0001t0055 a0002c0002t0010	a0001c0001t0010g0002 a0001c0001t0028g0009 a0001c0001t0043g0002 others(2): Show a0001c0001t0010g0002 a0001c0001t0028g0009 a0001c0001t0043g0002 a0001c0001t0055g0005 a0002c0002t0010g0002	9	412	0.0218	4	c.64 others(13): Show c.647_*650dupAAAA	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding	3/3	651	INFO_REALIGN_3_PRIME	chr20	TogoVar
AP5S1_chr20_3815547_3833838	3831646	G G	GGTGT GGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 NA19043.hp2 NA19086.hp2 HG03225.hp2 NA19043.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0029 a0001c0001t0002 a0001c0001t0018 a0001c0001t0029	a0001c0001t0002g0002 a0001c0001t0018g0009 a0001c0001t0029g0026 a0001c0001t0002g0002 a0001c0001t0018g0009 a0001c0001t0029g0026	3	412	0.0073	4	c.73 others(15): Show c.7349_*7350insGTGT	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2809		chr20	TogoVar
AP5Z1_chr7_4770623_4799397	4770864	G G	GGTGT GGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG01361.hp2 others(19): Show HG01074.hp2 HG01081.hp2 HG01361.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02897.hp2 HG02970.hp1 HG03130.hp1 HG03195.hp2 HG03486.hp1 HG03486.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0010	a0001c0001 a0001c0002 a0003c0004 others(2): Show a0001c0001 a0001c0002 a0003c0004 a0004c0007 a0010c0012	a0001c0001t0001 a0001c0002t0003 a0003c0004t0004 others(4): Show a0001c0001t0001 a0001c0002t0003 a0003c0004t0004 a0003c0004t0007 a0004c0007t0012 a0010c0012t0007 a0010c0012t0046	a0001c0001t0001g0048 a0001c0002t0003g0007 a0001c0002t0003g0075 others(10): Show a0001c0001t0001g0048 a0001c0002t0003g0007 a0001c0002t0003g0075 a0001c0002t0003g0076 a0003c0004t0004g0004 a0003c0004t0004g0016 a0003c0004t0004g0056 a0003c0004t0004g0069 a0003c0004t0004g0070 a0003c0004t0007g0017 a0004c0007t0012g0015 a0010c0012t0007g0004 a0010c0012t0046g0178	22	340	0.0647	4	c.-48 others(15): Show c.-4852_-4851insGTGT	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding		4758		chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4777353	C C	CTTTA CTTTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00597.hp1 others(69): Show HG00099.hp1 HG00140.hp2 HG00597.hp1 HG00639.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01978.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02257.hp2 HG02486.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 NA18522.hp2 NA18747.hp2 NA18940.hp1 NA18942.hp2 NA18951.hp2 NA18962.hp2 NA18969.hp1 NA18969.hp2 NA19057.hp2 NA19066.hp1 NA19070.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp1 NA20300.hp1 NA20905.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0014	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0014 a0002c0003 a0002c0030 a0002c0033 a0009c0010 a0014c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0001t0040 a0001c0001t0049 a0001c0002t0001 a0001c0002t0003 a0001c0002t0015 a0001c0002t0027 a0001c0002t0032 a0001c0002t0033 a0001c0002t0044 a0001c0005t0009 a0001c0005t0048 a0001c0014t0029 a0002c0003t0002 a0002c0003t0011 a0002c0003t0043 a0002c0030t0002 a0002c0033t0002 a0009c0010t0023 a0009c0010t0025 a0014c0028t0047	a0001c0001t0001g0036 a0001c0001t0001g0113 a0001c0001t0001g0114 others(52): Show a0001c0001t0001g0036 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0176 a0001c0001t0002g0055 a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0112 a0001c0001t0005g0116 a0001c0001t0005g0117 a0001c0001t0005g0118 a0001c0001t0014g0012 a0001c0001t0014g0170 a0001c0001t0040g0012 a0001c0001t0049g0087 a0001c0002t0001g0036 a0001c0002t0003g0086 a0001c0002t0015g0049 a0001c0002t0015g0084 a0001c0002t0027g0088 a0001c0002t0032g0083 a0001c0002t0033g0074 a0001c0002t0044g0085 a0001c0005t0009g0031 a0001c0005t0009g0032 a0001c0005t0009g0089 a0001c0005t0009g0090 a0001c0005t0048g0031 a0001c0014t0029g0093 a0002c0003t0002g0003 a0002c0003t0002g0014 a0002c0003t0002g0026 a0002c0003t0002g0027 a0002c0003t0002g0047 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0061 a0002c0003t0002g0062 a0002c0003t0002g0063 a0002c0003t0002g0064 a0002c0003t0002g0065 a0002c0003t0002g0066 a0002c0003t0002g0104 a0002c0003t0002g0174 a0002c0003t0011g0003 a0002c0003t0011g0025 a0002c0003t0011g0057 a0002c0003t0043g0025 a0002c0030t0002g0014 a0002c0033t0002g0047 a0009c0010t0023g0034 a0009c0010t0025g0034 a0014c0028t0047g0091	72	340	0.2118	4	c.41+ others(19): Show c.41+1629_41+1632dupATTT	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
APAF1_chr12_98640290_98740433	98642596	C C	CTTTA CTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18985.hp1 NA19005.hp1 others(2): Show NA18949.hp1 NA18985.hp1 NA19005.hp1 NA19057.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0047 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0094	5	366	0.0137	4	c.-32 others(15): Show c.-3281_-3280insTTTA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding		2693		chr12	TogoVar
APAF1_chr12_98640290_98740433	98659752	G G	GAAAA GAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG02015.hp2 others(5): Show HG00408.hp1 HG00621.hp2 HG02015.hp2 HG02056.hp1 NA18991.hp1 NA19057.hp2 NA19063.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0325 a0001c0001t0002g0327 others(5): Show a0001c0001t0002g0209 a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0347 a0001c0001t0002g0349	8	366	0.0219	4	c.710 others(19): Show c.710+426_710+429dupAAAA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98672153	T T	TTTTA TTTTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00544.hp1 others(115): Show HG00280.hp1 HG00323.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01168.hp1 HG01169.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01952.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02622.hp1 HG02738.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18945.hp1 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18990.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19005.hp1 NA19007.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19072.hp2 NA19074.hp1 NA19078.hp2 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19088.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0016 a0001c0001t0028 a0001c0001t0031 a0001c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(114): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0206 a0001c0001t0001g0229 a0001c0001t0001g0236 a0001c0001t0001g0258 a0001c0001t0001g0267 a0001c0001t0001g0294 a0001c0001t0001g0357 a0001c0001t0005g0040 a0001c0001t0005g0048 a0001c0001t0005g0058 a0001c0001t0005g0060 a0001c0001t0005g0062 a0001c0001t0005g0066 a0001c0001t0005g0069 a0001c0001t0005g0073 a0001c0001t0005g0075 a0001c0001t0005g0076 a0001c0001t0005g0080 a0001c0001t0005g0082 a0001c0001t0005g0083 a0001c0001t0005g0086 a0001c0001t0005g0087 a0001c0001t0005g0090 a0001c0001t0005g0091 a0001c0001t0005g0095 a0001c0001t0005g0096 a0001c0001t0005g0109 a0001c0001t0005g0115 a0001c0001t0007g0065 a0001c0001t0009g0042 a0001c0001t0009g0070 a0001c0001t0009g0079 a0001c0001t0009g0084 a0001c0001t0009g0255 a0001c0001t0016g0045 a0001c0001t0016g0071 a0001c0001t0028g0005 a0001c0001t0031g0252 a0001c0010t0001g0029	118	366	0.3224	4	c.179 others(21): Show c.1793+458_1793+461dupATTT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	12/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98689474	C C	CTGTG CTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(66): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00621.hp2 HG00642.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01257.hp1 HG01346.hp1 HG01433.hp1 HG01952.hp1 HG02015.hp2 HG02056.hp1 HG02080.hp2 HG02135.hp2 HG02148.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02572.hp1 HG02698.hp1 HG02818.hp1 HG02895.hp1 HG02965.hp2 HG02970.hp2 HG03139.hp1 HG03239.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03704.hp2 HG03831.hp1 HG03942.hp2 HG04199.hp2 HG04228.hp2 NA18747.hp2 NA18942.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18954.hp2 NA18959.hp1 NA18963.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp1 NA18978.hp2 NA18989.hp1 NA18991.hp1 NA18993.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19063.hp2 NA19078.hp1 NA19081.hp1 NA19082.hp2 NA19086.hp2 NA19090.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0013 a0002c0003 a0003c0005	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(14): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0002t0001 a0001c0002t0023 a0001c0002t0032 a0001c0004t0007 a0001c0013t0006 a0002c0003t0007 a0003c0005t0007	a0001c0001t0002g0209 a0001c0001t0002g0221 a0001c0001t0002g0314 others(66): Show a0001c0001t0002g0209 a0001c0001t0002g0221 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0006g0124 a0001c0001t0006g0138 a0001c0001t0006g0150 a0001c0001t0006g0157 a0001c0001t0006g0160 a0001c0001t0006g0163 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0169 a0001c0001t0006g0171 a0001c0001t0006g0174 a0001c0001t0006g0222 a0001c0001t0006g0223 a0001c0001t0006g0322 a0001c0001t0007g0250 a0001c0001t0012g0210 a0001c0001t0019g0215 a0001c0001t0019g0216 a0001c0001t0020g0351 a0001c0001t0020g0352 a0001c0001t0021g0350 a0001c0001t0036g0300 a0001c0001t0037g0299 a0001c0001t0038g0320 a0001c0002t0001g0355 a0001c0002t0023g0309 a0001c0002t0032g0217 a0001c0004t0007g0225 a0001c0004t0007g0226 a0001c0013t0006g0153 a0002c0003t0007g0353 a0002c0003t0007g0354 a0003c0005t0007g0219 a0003c0005t0007g0220	69	366	0.1885	4	c.230 others(23): Show c.2304+2620_2304+2623dupTGTG	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	16/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98689495	T T	TGAGA TGAGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG02109.hp1 others(1): Show HG01257.hp2 HG01258.hp1 HG02109.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0017 a0001c0001t0004 a0001c0001t0017	a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0017g0202 others(1): Show a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0017g0202 a0001c0001t0017g0203	4	366	0.0109	4	c.230 others(23): Show c.2304+2629_2304+2632dupGAGA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	16/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98689495	T T	TGTGA TGTGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00558.hp2 others(57): Show HG00280.hp2 HG00408.hp2 HG00558.hp2 HG00639.hp2 HG00738.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01258.hp2 HG01358.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG02071.hp2 HG02129.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp2 HG02523.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03927.hp2 NA18522.hp1 NA18942.hp2 NA18948.hp2 NA18950.hp2 NA18955.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18968.hp1 NA18975.hp2 NA18986.hp1 NA18987.hp2 NA18994.hp2 NA19009.hp2 NA19065.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA19090.hp1 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0015 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0035 a0005c0008t0011	a0001c0001t0003g0125 a0001c0001t0003g0130 a0001c0001t0003g0131 others(57): Show a0001c0001t0003g0125 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0152 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0001t0003g0168 a0001c0001t0003g0170 a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0004g0126 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0205 a0001c0001t0011g0132 a0001c0001t0011g0135 a0001c0001t0011g0140 a0001c0001t0015g0129 a0001c0001t0024g0162 a0001c0001t0026g0151 a0001c0001t0027g0214 a0001c0001t0030g0007 a0001c0001t0035g0201 a0005c0008t0011g0142	60	366	0.1639	4	c.230 others(23): Show c.2304+2623_2304+2624insTGAG	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	16/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98707692	C C	CTATA CTATA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02258.hp2 HG02683.hp1 others(15): Show HG02129.hp1 HG02258.hp2 HG02683.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03195.hp1 HG03516.hp2 HG03579.hp2 HG04228.hp1 NA18940.hp2 NA18952.hp2 NA18982.hp2 NA18984.hp2 NA18987.hp1 NA19012.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0034 a0001c0001t0037 a0001c0004t0007	a0001c0001t0001g0011 a0001c0001t0001g0102 a0001c0001t0001g0113 others(15): Show a0001c0001t0001g0011 a0001c0001t0001g0102 a0001c0001t0001g0113 a0001c0001t0001g0235 a0001c0001t0001g0357 a0001c0001t0010g0291 a0001c0001t0010g0292 a0001c0001t0010g0295 a0001c0001t0010g0296 a0001c0001t0010g0297 a0001c0001t0012g0210 a0001c0001t0014g0122 a0001c0001t0014g0123 a0001c0001t0014g0293 a0001c0001t0034g0208 a0001c0001t0037g0299 a0001c0004t0007g0225 a0001c0004t0007g0226	18	366	0.0492	4	c.272 others(21): Show c.2722-876_2722-873dupTATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98715235	C C	CATAT CATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18945.hp2 NA18955.hp2 others(1): Show HG02630.hp1 NA18945.hp2 NA18955.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0240 a0001c0001t0003g0172 a0001c0001t0003g0175 others(1): Show a0001c0001t0001g0240 a0001c0001t0003g0172 a0001c0001t0003g0175 a0001c0001t0008g0313	4	366	0.0109	4	c.295 others(21): Show c.2959-149_2959-146dupATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	21/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APBA1_chr9_69422532_69677371	69436575	C C	CTGTT CTGTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01070.hp1 others(48): Show HG00642.hp1 HG00642.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01255.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01884.hp1 HG01978.hp1 HG02004.hp2 HG02056.hp1 HG02109.hp1 HG02132.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02559.hp1 HG02683.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp1 NA18979.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0028 a0001c0001t0032 a0001c0001t0037 a0001c0005t0006 a0001c0006t0029 a0002c0002t0017 a0002c0002t0019 a0002c0002t0030	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0031 others(48): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0004g0019 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0045 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0062 a0001c0001t0004g0092 a0001c0001t0004g0095 a0001c0001t0004g0164 a0001c0001t0005g0056 a0001c0001t0005g0104 a0001c0001t0005g0143 a0001c0001t0005g0150 a0001c0001t0005g0154 a0001c0001t0005g0161 a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0006g0088 a0001c0001t0006g0094 a0001c0001t0006g0134 a0001c0001t0006g0146 a0001c0001t0006g0149 a0001c0001t0006g0160 a0001c0001t0006g0169 a0001c0001t0006g0204 a0001c0001t0011g0142 a0001c0001t0011g0178 a0001c0001t0012g0127 a0001c0001t0014g0111 a0001c0001t0014g0189 a0001c0001t0020g0068 a0001c0001t0021g0156 a0001c0001t0022g0182 a0001c0001t0024g0029 a0001c0001t0028g0117 a0001c0001t0032g0061 a0001c0001t0037g0210 a0001c0005t0006g0123 a0001c0006t0029g0083 a0002c0002t0017g0205 a0002c0002t0017g0206 a0002c0002t0019g0033 a0002c0002t0030g0067	51	210	0.2429	4	c.230 others(23): Show c.2302-3903_2302-3900dupAACA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	11/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69450056	G G	GTTTT GTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02486.hp2 others(8): Show HG02257.hp2 HG02451.hp2 HG02486.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0001c0001t0034 a0002c0002t0007 others(3): Show a0001c0001t0007 a0001c0001t0034 a0002c0002t0007 a0002c0002t0009 a0002c0002t0018 a0002c0002t0023	a0001c0001t0007g0051 a0001c0001t0034g0207 a0002c0002t0007g0008 others(8): Show a0001c0001t0007g0051 a0001c0001t0034g0207 a0002c0002t0007g0008 a0002c0002t0007g0035 a0002c0002t0007g0048 a0002c0002t0009g0001 a0002c0002t0009g0003 a0002c0002t0009g0004 a0002c0002t0009g0005 a0002c0002t0018g0002 a0002c0002t0023g0011	11	210	0.0524	4	c.196 others(21): Show c.1969-264_1969-261dupAAAA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	9/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69512070	T T	TAATA TAATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG01346.hp1 others(40): Show HG00423.hp1 HG00597.hp1 HG01346.hp1 HG01361.hp1 HG01884.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02132.hp2 HG02155.hp2 HG02257.hp2 HG02300.hp1 HG02486.hp2 HG02602.hp1 HG02630.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG04184.hp2 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18944.hp1 NA18953.hp1 NA18982.hp2 NA18985.hp2 NA19043.hp1 NA19043.hp2 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(7): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 a0002c0002t0016 a0002c0002t0018 a0002c0002t0019 a0002c0002t0023 a0002c0002t0027	a0002c0002t0001g0012 a0002c0002t0001g0101 a0002c0002t0002g0137 others(40): Show a0002c0002t0001g0012 a0002c0002t0001g0101 a0002c0002t0002g0137 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0015 a0002c0002t0003g0024 a0002c0002t0003g0082 a0002c0002t0003g0084 a0002c0002t0003g0102 a0002c0002t0003g0115 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0128 a0002c0002t0003g0132 a0002c0002t0003g0136 a0002c0002t0003g0138 a0002c0002t0003g0141 a0002c0002t0003g0158 a0002c0002t0003g0171 a0002c0002t0003g0172 a0002c0002t0003g0183 a0002c0002t0003g0184 a0002c0002t0003g0190 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0195 a0002c0002t0003g0197 a0002c0002t0003g0198 a0002c0002t0007g0008 a0002c0002t0007g0035 a0002c0002t0007g0048 a0002c0002t0007g0049 a0002c0002t0009g0001 a0002c0002t0009g0003 a0002c0002t0009g0004 a0002c0002t0009g0005 a0002c0002t0016g0145 a0002c0002t0016g0181 a0002c0002t0018g0002 a0002c0002t0019g0033 a0002c0002t0023g0011 a0002c0002t0027g0112	43	210	0.2048	4	c.120 others(23): Show c.1200+3937_1200+3940dupTATT	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	2/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69522068	T T	TACAC TACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG01074.hp1 others(65): Show HG00423.hp1 HG00597.hp1 HG01074.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02258.hp1 HG02451.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18953.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp1 NA18966.hp1 NA18985.hp1 NA18999.hp1 NA19004.hp1 NA19009.hp1 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19240.hp2 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0007 a0001c0001 a0002c0002 a0003c0007	a0001c0001t0001 a0001c0001t0007 a0001c0001t0033 others(11): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0016 a0002c0002t0017 a0002c0002t0027 a0002c0002t0030 a0003c0007t0001	a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0022 others(65): Show a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0077 a0001c0001t0001g0099 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0007g0051 a0001c0001t0033g0017 a0001c0001t0034g0207 a0001c0001t0036g0208 a0001c0001t0037g0210 a0002c0002t0001g0012 a0002c0002t0001g0101 a0002c0002t0002g0137 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0015 a0002c0002t0003g0082 a0002c0002t0003g0084 a0002c0002t0003g0102 a0002c0002t0003g0115 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0132 a0002c0002t0003g0138 a0002c0002t0003g0141 a0002c0002t0003g0158 a0002c0002t0003g0171 a0002c0002t0003g0172 a0002c0002t0003g0183 a0002c0002t0003g0184 a0002c0002t0003g0195 a0002c0002t0003g0198 a0002c0002t0016g0145 a0002c0002t0016g0181 a0002c0002t0017g0205 a0002c0002t0017g0206 a0002c0002t0027g0112 a0002c0002t0030g0067 a0003c0007t0001g0113	68	210	0.3238	4	c.-69 others(21): Show c.-69-4793_-69-4790dupGTGT	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69523477	G G	GTATA GTATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02135.hp1 HG02615.hp2 others(6): Show HG02055.hp1 HG02135.hp1 HG02615.hp2 HG03017.hp2 HG03710.hp2 HG04199.hp1 HG04228.hp1 NA18944.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0036 a0001c0004t0002 a0001c0001t0002 a0001c0001t0036 a0001c0004t0002	a0001c0001t0002g0052 a0001c0001t0002g0074 a0001c0001t0002g0075 others(6): Show a0001c0001t0002g0052 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0036g0208 a0001c0004t0002g0126	9	210	0.0429	4	c.-69 others(21): Show c.-69-6202_-69-6199dupTATA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69523495	A A	ATATG ATATG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG03654.hp2 HG01515.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0155 a0001c0001t0002g0037 a0001c0001t0002g0155	2	210	0.0095	4	c.-69 others(21): Show c.-69-6217_-69-6216insCATA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69537042	G G	GATAT GATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19240.hp1 NA21309.hp2 HG02723.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012	a0001c0001t0002g0079 a0001c0001t0005g0104 a0001c0001t0012g0127 a0001c0001t0002g0079 a0001c0001t0005g0104 a0001c0001t0012g0127	3	210	0.0143	4	c.-69 others(23): Show c.-69-19767_-69-19764dupATAT	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69558543	C C	CACAT CACAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA19240.hp1 NA21309.hp2 NA18939.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0159 a0001c0001t0002g0079 a0001c0001t0005g0104 a0001c0001t0001g0159 a0001c0001t0002g0079 a0001c0001t0005g0104	3	210	0.0143	4	c.-69 others(23): Show c.-69-41265_-69-41264insATGT	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69569448	A A	AGTGT AGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02976.hp2 NA18522.hp1 HG02258.hp1 HG02976.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0007 a0001c0001t0001 a0002c0002t0007	a0001c0001t0001g0021 a0001c0001t0001g0022 a0002c0002t0007g0048 a0001c0001t0001g0021 a0001c0001t0001g0022 a0002c0002t0007g0048	3	210	0.0143	4	c.-69 others(23): Show c.-69-52173_-69-52170dupACAC	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69600806	T T	TAATA TAATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02451.hp2 HG02615.hp2 HG01515.hp2 HG02451.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0036 a0001c0001t0002 a0001c0001t0007 a0001c0001t0036	a0001c0001t0002g0155 a0001c0001t0007g0051 a0001c0001t0036g0208 a0001c0001t0002g0155 a0001c0001t0007g0051 a0001c0001t0036g0208	3	210	0.0143	4	c.-70 others(23): Show c.-70+71343_-70+71346dupTATT	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69636890	A A	AGAAG AGAAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02809.hp1 HG02976.hp1 others(1): Show HG01074.hp2 HG02809.hp1 HG02976.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0131 a0001c0001t0008g0071 a0001c0001t0008g0072 others(1): Show a0001c0001t0001g0131 a0001c0001t0008g0071 a0001c0001t0008g0072 a0001c0001t0008g0073	4	210	0.0191	4	c.-70 others(23): Show c.-70+35259_-70+35262dupCTTC	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69636922	G G	GGAAA GGAAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02572.hp2 HG02723.hp1 others(3): Show HG02004.hp2 HG02572.hp2 HG02723.hp1 HG03704.hp2 NA18999.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0025 a0002c0002t0023	a0001c0001t0001g0130 a0001c0001t0002g0091 a0001c0001t0002g0196 others(3): Show a0001c0001t0001g0130 a0001c0001t0002g0091 a0001c0001t0002g0196 a0001c0001t0014g0111 a0001c0001t0025g0162 a0002c0002t0023g0011	6	210	0.0286	4	c.-70 others(23): Show c.-70+35227_-70+35230dupTTTC	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69636926	A A	AGAAG AGAAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01361.hp2 HG01074.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0064 a0001c0001t0004g0062 a0001c0001t0001g0064 a0001c0001t0004g0062	2	210	0.0095	4	c.-70 others(23): Show c.-70+35226_-70+35227insCTTC	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69658300	C C	CTCTT CTCTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01071.hp1 HG01123.hp2 others(15): Show HG00609.hp2 HG01071.hp1 HG01123.hp2 HG01169.hp1 HG02074.hp2 HG02698.hp2 HG03209.hp2 HG03471.hp1 HG03492.hp1 NA18612.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18985.hp1 NA19004.hp2 NA19009.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0007 a0001c0001 a0002c0002 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0002c0002t0001 a0002c0002t0003 a0003c0007t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0163 others(15): Show a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0002g0066 a0001c0001t0004g0164 a0001c0001t0006g0204 a0001c0001t0010g0100 a0001c0001t0010g0168 a0002c0002t0001g0101 a0002c0002t0003g0102 a0002c0002t0003g0119 a0002c0002t0003g0120 a0003c0007t0001g0113	18	210	0.0857	4	c.-70 others(23): Show c.-70+13852_-70+13853insAAGA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69675581	C C	CAAAA CAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01361.hp2 HG01515.hp1 others(2): Show HG01074.hp1 HG01361.hp2 HG01515.hp1 HG02258.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0032 a0001c0001t0001 a0001c0001t0004 a0001c0001t0032	a0001c0001t0001g0064 a0001c0001t0004g0059 a0001c0001t0004g0060 others(2): Show a0001c0001t0001g0064 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0062 a0001c0001t0032g0061	5	210	0.0238	4	c.-34 others(15): Show c.-3499_-3498insTTTT	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding		3211		chr9	TogoVar
APBA2_chr15_28880974_29123315	28892639	A A	ATGTG ATGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01258.hp1 HG02486.hp1 others(2): Show HG00323.hp2 HG01258.hp1 HG02486.hp1 HG02559.hp2 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0019 a0001c0001t0020 others(2): Show a0001c0001t0002 a0001c0001t0019 a0001c0001t0020 a0002c0002t0002 a0002c0002t0003	a0001c0001t0002g0183 a0001c0001t0019g0179 a0001c0001t0020g0181 others(2): Show a0001c0001t0002g0183 a0001c0001t0019g0179 a0001c0001t0020g0181 a0002c0002t0002g0180 a0002c0002t0003g0182	5	204	0.0245	4	c.-20 others(23): Show c.-205+6377_-205+6380dupGTGT	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr15	TogoVar

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