Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AP2A1_chr19_49762001_49812114	49771303	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	242	0.0041	-11	c.67+ others(26): Show c.67+4116_67+4126delAAAAAAAAAAA	AP2A1	ENSG00000196961.13	transcript	ENST00000354293.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
AP2A2_chr11_920870_1017240	953620	TCCGTCTG others(4): Show TCCGTCTGCCTC	T T	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	266	0.0038	-11	c.68- others(26): Show c.68-5815_68-5805delCGTCTGCCTCC	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	999222	TGCCCCAG others(4): Show TGCCCCAGGATC	T T	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	266	0.0038	-11	c.195 others(30): Show c.1957-1209_1957-1199delGCCCCAGGATC	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	14/21			chr11	TogoVar
AP2B1_chr17_35582322_35731413	35616142	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00544.hp2 others(133): Show HG00099.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02132.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 NA18522.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0002t0001 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0003t0001	a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0002g0180 others(132): Show a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0002g0180 a0001c0001t0004g0158 a0001c0001t0004g0316 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0321 a0001c0001t0004g0322 a0001c0001t0004g0323 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0004g0331 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0004g0340 a0001c0001t0004g0345 a0001c0001t0004g0347 a0001c0001t0004g0351 a0001c0001t0004g0353 a0001c0001t0006g0079 a0001c0001t0007g0346 a0001c0001t0007g0348 a0001c0001t0007g0349 a0001c0001t0016g0054 a0001c0002t0001g0005 a0001c0002t0001g0062 a0001c0002t0001g0184 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0250 a0001c0002t0001g0252 a0001c0002t0001g0258 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0263 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0275 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0285 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0297 a0001c0002t0001g0304 a0001c0002t0001g0309 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0313 a0001c0002t0001g0361 a0001c0002t0001g0362 a0001c0002t0001g0363 a0001c0002t0001g0364 a0001c0002t0001g0365 a0001c0002t0001g0366 a0001c0002t0011g0190 a0001c0002t0011g0236 a0001c0002t0012g0217 a0001c0002t0013g0216 a0001c0003t0001g0204 a0001c0003t0001g0215 a0001c0003t0001g0300 a0001c0003t0001g0301 a0001c0003t0001g0302 a0001c0003t0001g0303 a0001c0003t0001g0305 a0001c0003t0001g0306 a0001c0003t0001g0307 a0001c0003t0001g0308 a0001c0003t0001g0310	136	146	0.9315	-11	c.525 others(28): Show c.525+7784_525+7794delTTTTTTTTTTT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720569	ATATATTT others(4): Show ATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02895.hp2 HG02622.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0007 a0001c0001t0007g0006 a0001c0001t0007g0007	2	352	0.0057	-11	c.278 others(30): Show c.2782-3054_2782-3044delATATTTTTTTT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2S1_chr19_46833167_46855846	46855092	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0251	1	108	0.0093	-11	c.-43 others(22): Show c.-4337_-4327delTTTTTTTTTTT	AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding		4247		chr19	TogoVar
AP3B1_chr5_77997326_78299698	77999936	TGTTTTTT others(4): Show TGTTTTTTTTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	224	0.0045	-11	c.29 others(22): Show c.2955_*2965delCAAAAAAAAAC	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding		2389		chr5	TogoVar
AP3B1_chr5_77997326_78299698	78151851	CCCCCTTC others(4): Show CCCCCTTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0130 a0001c0002t0002g0130	1	224	0.0045	-11	c.147 others(30): Show c.1473+4396_1473+4406delAGGGGAAGGGG	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	14/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78166162	CACACACA others(4): Show CACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	223	0.0045	-11	c.116 others(28): Show c.1168-501_1168-491delTGTGTGTGTGT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	11/26			chr5	TogoVar
AP3B2_chr15_82654281_82714875	82683047	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02109.hp2 HG02145.hp2 others(11): Show HG00323.hp2 HG02109.hp2 HG02145.hp2 HG02273.hp2 HG02572.hp1 HG02615.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG03130.hp1 HG03195.hp2 HG03516.hp1 HG03710.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0157 a0001c0002t0001g0158 others(10): Show a0001c0002t0001g0007 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0332 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0001g0337	14	80	0.1750	-11	c.361 others(28): Show c.361-1478_361-1468delAAAAAAAAAAA	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	4/26			chr15	TogoVar
AP3D1_chr19_2095988_2156566	2139059	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00642.hp1 others(53): Show HG00408.hp1 HG00597.hp2 HG00642.hp1 HG00738.hp2 HG01070.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01952.hp2 HG01993.hp1 HG02040.hp2 HG02074.hp2 HG02083.hp2 HG02145.hp1 HG02280.hp1 HG02300.hp1 HG02572.hp2 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG02886.hp2 HG02970.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03579.hp2 HG03927.hp2 NA18747.hp2 NA18951.hp1 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18977.hp1 NA18980.hp1 NA18983.hp1 NA18985.hp2 NA18989.hp1 NA18994.hp1 NA18995.hp2 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19055.hp1 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19088.hp2 NA19240.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0009 a0001c0004t0002 a0001c0005t0002	a0001c0001t0001g0050 a0001c0001t0001g0131 a0001c0001t0001g0203 others(53): Show a0001c0001t0001g0050 a0001c0001t0001g0131 a0001c0001t0001g0203 a0001c0001t0001g0264 a0001c0003t0001g0072 a0001c0003t0001g0192 a0001c0003t0002g0026 a0001c0003t0002g0027 a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0030 a0001c0003t0002g0032 a0001c0003t0002g0033 a0001c0003t0002g0035 a0001c0003t0002g0037 a0001c0003t0002g0038 a0001c0003t0002g0042 a0001c0003t0002g0043 a0001c0003t0002g0044 a0001c0003t0002g0047 a0001c0003t0002g0049 a0001c0003t0002g0051 a0001c0003t0002g0054 a0001c0003t0002g0055 a0001c0003t0002g0187 a0001c0003t0002g0190 a0001c0003t0002g0191 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0002g0195 a0001c0003t0002g0196 a0001c0003t0002g0197 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0200 a0001c0003t0002g0202 a0001c0003t0002g0204 a0001c0003t0002g0250 a0001c0003t0002g0337 a0001c0003t0002g0342 a0001c0003t0009g0347 a0001c0003t0009g0348 a0001c0004t0002g0046 a0001c0005t0002g0019 a0001c0005t0002g0020 a0001c0005t0002g0021 a0001c0005t0002g0022 a0001c0005t0002g0023 a0001c0005t0002g0024 a0001c0005t0002g0025 a0001c0005t0002g0031 a0001c0005t0002g0034 a0001c0005t0002g0036 a0001c0005t0002g0040 a0001c0005t0002g0041 a0001c0005t0002g0048	56	214	0.2617	-11	c.97- others(24): Show c.97-356_97-346delTTTTTTTTTTT	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	1/31			chr19	TogoVar
AP3M1_chr10_74115255_74155828	74145431	TAACCTTC others(4): Show TAACCTTCTATA	T T	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18971.hp2 NA18973.hp1 others(6): Show NA18963.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp2 NA18978.hp1 NA19056.hp2 NA19062.hp1 NA19084.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0054 a0001c0001t0001g0055 others(5): Show a0001c0001t0001g0017 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0212	9	332	0.0271	-11	c.-4+ others(26): Show c.-4+5313_-4+5323delTATAGAAGGTT	AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding	1/8			chr10	TogoVar
AP3M1_chr10_74115255_74155828	74149267	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01515.hp1 HG01517.hp1 others(5): Show HG00597.hp2 HG01515.hp1 HG01517.hp1 HG02083.hp2 HG02135.hp1 HG02165.hp2 HG02698.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0002t0002	a0001c0001t0002g0191 a0001c0001t0003g0038 a0001c0001t0003g0244 others(4): Show a0001c0001t0002g0191 a0001c0001t0003g0038 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0014g0261 a0001c0001t0014g0262 a0001c0002t0002g0192	8	51	0.1569	-11	c.-4+ others(26): Show c.-4+1477_-4+1487delAAAAAAAAAAA	AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding	1/8			chr10	TogoVar
AP3S1_chr5_115836935_115919081	115845836	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02809.hp1 HG02486.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0196 a0001c0001t0004g0350 a0001c0001t0004g0196 a0001c0001t0004g0350	2	70	0.0286	-11	c.69+ others(26): Show c.69+3758_69+3768delAAAAAAAAAAA	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
AP3S1_chr5_115836935_115919081	115849025	TCTTTCTG others(4): Show TCTTTCTGGATA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	376	0.0027	-11	c.69+ others(26): Show c.69+6927_69+6937delGATACTTTCTG	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
AP3S1_chr5_115836935_115919081	115861860	CTTTTCTT others(4): Show CTTTTCTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03486.hp1 HG02559.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0341 a0001c0001t0001g0342	2	317	0.0063	-11	c.70- others(26): Show c.70-4805_70-4795delCTTTTTTTTTT	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
AP3S1_chr5_115836935_115919081	115914854	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02809.hp1 HG02451.hp1 HG02486.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0196 a0001c0001t0004g0201 a0001c0001t0004g0350 a0001c0001t0004g0196 a0001c0001t0004g0201 a0001c0001t0004g0350	3	170	0.0176	-11	c.13 others(22): Show c.1365_*1375delTTTTTTTTTTT	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding		774		chr5	TogoVar
AP3S2_chr15_89825599_89898994	89826523	GCCACCAC others(4): Show GCCACCACGCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0243 a0001c0001t0004g0243	1	310	0.0032	-11	c.89 others(22): Show c.8981_*8991delGGGCGTGGTGG	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding		4075		chr15	TogoVar
AP3S2_chr15_89825599_89898994	89838562	CCCACTGT others(4): Show CCCACTGTGGTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0125	1	310	0.0032	-11	c.346 others(26): Show c.346-851_346-841delAACCACAGTGG	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89847375	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp2 HG01109.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0043 a0001c0001t0002 a0001c0001t0043	a0001c0001t0002g0257 a0001c0001t0043g0184 a0001c0001t0002g0257 a0001c0001t0043g0184	2	87	0.0230	-11	c.346 others(28): Show c.346-9664_346-9654delTTTTTTTTTTT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89859317	CTTCCTTC others(4): Show CTTCCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	310	0.0032	-11	c.345 others(30): Show c.345+12147_345+12157delAAAGGAAGGAA	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP4E1_chr15_50903683_51010895	50948201	ATGCAGTG others(4): Show ATGCAGTGACTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp1 others(97): Show HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01358.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02698.hp2 HG02809.hp2 HG03041.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03710.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18969.hp2 NA18971.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18987.hp1 NA18990.hp1 NA18992.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19012.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19075.hp2 NA19079.hp2 NA19081.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA21309.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0002c0003 a0008c0008 a0002c0002 a0002c0003 a0008c0008	a0002c0002t0002 a0002c0002t0012 a0002c0002t0016 others(7): Show a0002c0002t0002 a0002c0002t0012 a0002c0002t0016 a0002c0002t0017 a0002c0002t0021 a0002c0002t0023 a0002c0002t0024 a0002c0003t0001 a0002c0003t0002 a0008c0008t0002	a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 others(97): Show a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0077 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0012g0111 a0002c0002t0012g0112 a0002c0002t0016g0073 a0002c0002t0016g0116 a0002c0002t0017g0055 a0002c0002t0017g0056 a0002c0002t0021g0006 a0002c0002t0023g0042 a0002c0002t0024g0047 a0002c0003t0001g0076 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0002g0123 a0008c0008t0002g0005	100	390	0.2564	-11	c.131 others(26): Show c.1316+44_1316+54delGCAGTGACTTT	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50957671	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02922.hp1 HG02818.hp1 HG02922.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0014	a0002c0003t0014g0017 a0002c0003t0014g0018 a0002c0003t0014g0017 a0002c0003t0014g0018	2	303	0.0066	-11	c.154 others(28): Show c.1549-808_1549-798delTTTTTTTTTTT	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50962889	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	135	0.0074	-11	c.185 others(30): Show c.1851+4112_1851+4122delAAAAAAAAAAA	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	51008017	TTTTTTTT others(4): Show TTTTTTTTTTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01123.hp2 HG01167.hp2 others(25): Show HG00621.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01433.hp1 HG01516.hp1 HG01891.hp2 HG01943.hp2 HG02004.hp1 HG02083.hp2 HG02257.hp2 HG02293.hp1 HG02738.hp2 HG02818.hp1 HG02922.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03710.hp1 HG03927.hp2 HG06807.hp1 NA18948.hp1 NA18979.hp1 NA18982.hp1 NA18992.hp1 NA19057.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0003 a0002c0003t0010 others(3): Show a0001c0001t0003 a0002c0003t0003 a0002c0003t0010 a0002c0003t0014 a0002c0003t0020 a0002c0003t0022	a0001c0001t0003g0307 a0001c0001t0003g0309 a0001c0001t0003g0310 others(25): Show a0001c0001t0003g0307 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0327 a0001c0001t0003g0328 a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0003t0003g0028 a0002c0003t0003g0029 a0002c0003t0003g0030 a0002c0003t0003g0031 a0002c0003t0003g0162 a0002c0003t0003g0173 a0002c0003t0010g0032 a0002c0003t0010g0033 a0002c0003t0010g0034 a0002c0003t0014g0017 a0002c0003t0014g0018 a0002c0003t0020g0008 a0002c0003t0022g0007	28	389	0.0720	-11	c.53 others(22): Show c.5356_*5366delTTTTTTTTTTG	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding		2123		chr15	TogoVar
AP4S1_chr14_31020649_31101450	31049429	ATATATAT others(4): Show ATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01891.hp1 others(4): Show HG01168.hp2 HG01169.hp1 HG01891.hp1 HG02109.hp2 HG02559.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016	a0001c0001t0001g0003 a0001c0001t0008g0003 a0001c0001t0012g0199 others(4): Show a0001c0001t0001g0003 a0001c0001t0008g0003 a0001c0001t0012g0199 a0001c0001t0012g0200 a0001c0001t0012g0201 a0001c0001t0016g0197 a0001c0001t0016g0198	7	313	0.0224	-11	c.-71 others(30): Show c.-71-16696_-71-16686delTATATATATAT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5			chr14	TogoVar
AP4S1_chr14_31020649_31101450	31053589	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0034 a0001c0001t0035g0034	1	74	0.0135	-11	c.-71 others(30): Show c.-71-12518_-71-12508delTTTTTTTTTTT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP5M1_chr14_57263971_57303742	57300717	AATTTTTT others(4): Show AATTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	278	0.0036	-11	c.11 others(24): Show c.11834_*11844delATTTTTTTTTT	AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding		1976		chr14	TogoVar
AP5M1_chr14_57263971_57303742	57300718	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01106.hp1 HG01515.hp1 others(17): Show HG00609.hp1 HG01106.hp1 HG01515.hp1 HG01517.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02129.hp1 HG02135.hp2 HG04199.hp2 NA18943.hp1 NA18961.hp2 NA18968.hp1 NA18971.hp1 NA18983.hp2 NA18985.hp1 NA18994.hp1 NA19003.hp2 NA19063.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0020 a0001c0001t0001 a0001c0001t0009 a0001c0001t0020	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0009g0001 a0001c0001t0009g0106 a0001c0001t0020g0027	20	25	0.8000	-11	c.11 others(24): Show c.11835_*11845delTTTTTTTTTTT	AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding		1977		chr14	TogoVar
AP5S1_chr20_3815547_3833838	3831675	ATATATTT others(4): Show ATATATTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(5): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00642.hp2 HG00733.hp1 HG01123.hp2 HG02738.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0052 a0001c0001t0060 a0001c0001t0011 a0001c0001t0052 a0001c0001t0060	a0001c0001t0011g0002 a0001c0001t0052g0001 a0001c0001t0060g0002 a0001c0001t0011g0002 a0001c0001t0052g0001 a0001c0001t0060g0002	8	410	0.0195	-11	c.73 others(22): Show c.7379_*7389delTATATTTTTTT	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2838		chr20	TogoVar
APAF1_chr12_98640290_98740433	98653656	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02647.hp1 HG01433.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0038 a0001c0001t0004 a0001c0001t0038	a0001c0001t0004g0188 a0001c0001t0038g0302 a0001c0001t0004g0188 a0001c0001t0038g0302	2	230	0.0087	-11	c.526 others(28): Show c.526+3998_526+4008delAAAAAAAAAAA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653690	AAATATAT others(4): Show AAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	359	0.0028	-11	c.526 others(28): Show c.526+4008_526+4018delATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98730021	GATATCCC others(4): Show GATATCCCAATT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0172 a0001c0001t0004g0172	1	364	0.0027	-11	c.360 others(30): Show c.3601-2396_3601-2386delATCCCAATTAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APBA1_chr9_69422532_69677371	69437030	ATAATCAT others(4): Show ATAATCATATGG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	208	0.0048	-11	c.230 others(30): Show c.2301+3955_2301+3965delCCATATGATTA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	11/12			chr9	TogoVar
APBA2_chr15_28880974_29123315	28940356	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp2 HG01071.hp2 others(32): Show HG00323.hp2 HG00738.hp2 HG01071.hp2 HG01169.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01978.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03540.hp1 HG03669.hp2 HG04199.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18990.hp2 NA19085.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0009 a0002c0002 others(4): Show a0001c0001 a0001c0009 a0002c0002 a0002c0003 a0002c0004 a0002c0016 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0019 a0001c0001t0020 a0001c0001t0028 a0001c0009t0014 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0011 a0002c0002t0015 a0002c0002t0020 a0002c0003t0038 a0002c0004t0009 a0002c0016t0036 a0003c0008t0003	a0001c0001t0001g0008 a0001c0001t0001g0051 a0001c0001t0001g0060 others(32): Show a0001c0001t0001g0008 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0002g0155 a0001c0001t0002g0170 a0001c0001t0002g0183 a0001c0001t0002g0190 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0004g0045 a0001c0001t0007g0136 a0001c0001t0019g0179 a0001c0001t0020g0181 a0001c0001t0028g0049 a0001c0009t0014g0070 a0001c0009t0014g0083 a0002c0002t0003g0182 a0002c0002t0003g0204 a0002c0002t0004g0025 a0002c0002t0005g0026 a0002c0002t0006g0185 a0002c0002t0007g0002 a0002c0002t0007g0004 a0002c0002t0007g0115 a0002c0002t0008g0125 a0002c0002t0011g0102 a0002c0002t0011g0123 a0002c0002t0015g0091 a0002c0002t0020g0133 a0002c0003t0038g0107 a0002c0004t0009g0121 a0002c0016t0036g0001 a0003c0008t0003g0126	35	83	0.4217	-11	c.-95 others(30): Show c.-95+18628_-95+18638delAAAAAAAAAAA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	29023441	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02559.hp2 HG01934.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0020 a0001c0001t0005 a0001c0001t0020	a0001c0001t0005g0033 a0001c0001t0020g0181 a0001c0001t0005g0033 a0001c0001t0020g0181	2	23	0.0870	-11	c.-41 others(30): Show c.-41+27657_-41+27667delTTTTTTTTTTT	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	29025969	AAGAAATG others(4): Show AAGAAATGGCCC	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA20129.hp2 HG03831.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0134 a0002c0002t0002g0180 a0001c0001t0002g0134 a0002c0002t0002g0180	2	202	0.0099	-11	c.-40 others(30): Show c.-40-27872_-40-27862delAATGGCCCAGA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	29056599	TCCCTCCC others(4): Show TCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02886.hp2 HG04184.hp2 others(4): Show HG01981.hp2 HG02886.hp2 HG04184.hp2 NA18962.hp1 NA18981.hp1 NA18981.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0025	a0001c0001t0001g0007 a0001c0001t0002g0154 a0001c0001t0002g0190 others(4): Show a0001c0001t0001g0007 a0001c0001t0002g0154 a0001c0001t0002g0190 a0001c0001t0003g0186 a0001c0001t0004g0079 a0001c0001t0005g0088 a0001c0001t0025g0071	7	202	0.0347	-11	c.951 others(28): Show c.951+1765_951+1775delCCCTCCCTCCC	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/14			chr15	TogoVar
APBB1IP_chr10_26433341_26572803	26445129	AAAGAAAG others(4): Show AAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01361.hp2 HG01884.hp1 others(17): Show HG01123.hp1 HG01361.hp2 HG01884.hp1 HG01981.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02451.hp1 HG02735.hp1 HG02738.hp2 HG02895.hp2 HG02896.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03490.hp2 HG03669.hp2 NA18522.hp2 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0006t0002	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0111 others(17): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0179 a0001c0001t0001g0214 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0002g0309 a0001c0001t0002g0315 a0001c0001t0003g0310 a0002c0006t0002g0307	20	251	0.0797	-11	c.-1+ others(26): Show c.-1+6279_-1+6289delGAAAGAAAGAA	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26507620	ATGGTTGG others(4): Show ATGGTTGGCAGC	A A	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	356	0.0028	-11	c.532 others(28): Show c.532-4124_532-4114delGTTGGCAGCTG	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1_chr11_6390125_6424094	6392329	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG02896.hp2 HG01346.hp1 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	2	365	0.0055	-11	c.31 others(22): Show c.3194_*3204delAAAAAAAAAAA	APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding		2795		chr11	TogoVar
APBB2_chr4_40805027_41219542	40816806	AATGCCTG others(4): Show AATGCCTGAAAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0161 a0001c0004t0020g0161	1	190	0.0053	-11	c.211 others(28): Show c.2113-558_2113-548delATTTCAGGCAT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	17/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40845588	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02976.hp1 HG02486.hp2 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0020 a0002c0001t0053 a0001c0004t0020 a0002c0001t0053	a0001c0004t0020g0161 a0002c0001t0053g0143 a0001c0004t0020g0161 a0002c0001t0053g0143	2	42	0.0476	-11	c.153 others(32): Show c.1530-15022_1530-15012delTTTTTTTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40851732	ATATATAT others(4): Show ATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02559.hp2 NA18944.hp1 others(2): Show HG00558.hp2 HG02559.hp2 NA18944.hp1 NA18960.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001	a0001c0002t0001 a0001c0003t0001 a0001c0004t0039 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0039 a0002c0001t0022	a0001c0002t0001g0099 a0001c0002t0001g0109 a0001c0003t0001g0185 others(2): Show a0001c0002t0001g0099 a0001c0002t0001g0109 a0001c0003t0001g0185 a0001c0004t0039g0180 a0002c0001t0022g0091	5	187	0.0267	-11	c.153 others(32): Show c.1530-21166_1530-21156delAAAAATATATA	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40851734	ATATATTT others(4): Show ATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00642.hp2 others(14): Show HG00140.hp1 HG00280.hp1 HG00642.hp2 HG01071.hp2 HG01106.hp1 HG01255.hp1 HG02004.hp2 HG02698.hp2 HG03098.hp1 HG03491.hp1 HG03516.hp2 NA18951.hp2 NA18955.hp1 NA19007.hp2 NA19030.hp1 NA19087.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001	a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 others(7): Show a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0007 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0006 a0002c0001t0001 a0002c0001t0056	a0001c0002t0001g0137 a0001c0002t0004g0170 a0001c0003t0001g0029 others(14): Show a0001c0002t0001g0137 a0001c0002t0004g0170 a0001c0003t0001g0029 a0001c0003t0001g0050 a0001c0003t0007g0105 a0001c0004t0003g0111 a0001c0004t0004g0045 a0001c0004t0004g0046 a0001c0004t0004g0047 a0001c0004t0004g0048 a0001c0004t0004g0140 a0001c0004t0005g0163 a0001c0004t0006g0160 a0002c0001t0001g0032 a0002c0001t0001g0037 a0002c0001t0001g0059 a0002c0001t0056g0157	17	186	0.0914	-11	c.153 others(32): Show c.1530-21168_1530-21158delAAAAAAATATA	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40851736	ATATTTTT others(4): Show ATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0029 a0002c0001t0029	a0002c0001t0029g0002 a0002c0001t0029g0002	1	143	0.0070	-11	c.153 others(32): Show c.1530-21170_1530-21160delAAAAAAAAATA	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40857174	GCCTCCCT others(4): Show GCCTCCCTGCGC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03516.hp1 HG02622.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0051 a0002c0001t0008 a0001c0004t0051 a0002c0001t0008	a0001c0004t0051g0141 a0002c0001t0008g0156 a0001c0004t0051g0141 a0002c0001t0008g0156	2	190	0.0105	-11	c.153 others(32): Show c.1530-26608_1530-26598delGCGCAGGGAGG	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40948890	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02559.hp1 others(10): Show HG02258.hp1 HG02451.hp2 HG02559.hp1 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02897.hp2 HG02970.hp1 HG03139.hp2 HG03486.hp1 HG03579.hp1 NA18522.hp2 NA19043.hp1	a0002 a0002	a0002c0001 a0002c0005 a0002c0001 a0002c0005	a0002c0001t0001 a0002c0001t0003 a0002c0001t0023 others(8): Show a0002c0001t0001 a0002c0001t0003 a0002c0001t0023 a0002c0001t0025 a0002c0001t0029 a0002c0001t0031 a0002c0001t0040 a0002c0001t0047 a0002c0001t0050 a0002c0001t0054 a0002c0005t0041	a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0125 others(10): Show a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0125 a0002c0001t0003g0151 a0002c0001t0023g0184 a0002c0001t0025g0020 a0002c0001t0029g0002 a0002c0001t0031g0017 a0002c0001t0040g0145 a0002c0001t0047g0057 a0002c0001t0050g0188 a0002c0001t0054g0066 a0002c0005t0041g0124	13	18	0.7222	-11	c.836 others(28): Show c.836-3828_836-3818delTTTTTTTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40982332	AAGGAAGG others(4): Show AAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG01261.hp1 others(9): Show HG00280.hp1 HG00735.hp1 HG01261.hp1 HG01261.hp2 HG01891.hp2 HG02015.hp1 HG02015.hp2 HG02486.hp1 HG02698.hp2 HG02965.hp1 HG03492.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001	a0001c0002t0017 a0001c0003t0003 a0001c0004t0004 others(8): Show a0001c0002t0017 a0001c0003t0003 a0001c0004t0004 a0001c0004t0021 a0002c0001t0001 a0002c0001t0004 a0002c0001t0005 a0002c0001t0006 a0002c0001t0007 a0002c0001t0024 a0002c0001t0033	a0001c0002t0017g0094 a0001c0003t0003g0136 a0001c0004t0004g0047 others(9): Show a0001c0002t0017g0094 a0001c0003t0003g0136 a0001c0004t0004g0047 a0001c0004t0004g0048 a0001c0004t0021g0092 a0002c0001t0001g0062 a0002c0001t0004g0102 a0002c0001t0005g0152 a0002c0001t0006g0146 a0002c0001t0007g0177 a0002c0001t0024g0013 a0002c0001t0033g0014	12	169	0.0710	-11	c.835 others(30): Show c.835+31240_835+31250delCCTTCCTTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40982376	AAGGAAGG others(4): Show AAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0147 a0002c0001t0003g0147	1	187	0.0053	-11	c.835 others(30): Show c.835+31196_835+31206delCCTTCCTTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar

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