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
BBS4_chr15_72681207_72743473	72687124	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp2 HG00738.hp1 others(58): Show HG00597.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01123.hp1 HG01167.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01515.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG02074.hp1 HG02080.hp1 HG02155.hp2 HG02615.hp2 HG02683.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG04184.hp1 HG04184.hp2 NA18941.hp2 NA18942.hp1 NA18946.hp1 NA18949.hp1 NA18957.hp2 NA18960.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19070.hp2 NA19085.hp1 NA19087.hp2 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0010	a0001c0001 a0002c0002 a0003c0005 others(2): Show a0001c0001 a0002c0002 a0003c0005 a0009c0008 a0010c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0002c0002t0001 a0002c0002t0004 a0003c0005t0003 a0009c0008t0001 a0010c0009t0001	a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 others(57): Show a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0326 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0387 a0001c0001t0001g0388 a0001c0001t0002g0004 a0001c0001t0002g0283 a0001c0001t0002g0309 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0006g0386 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0335 a0002c0002t0004g0294 a0003c0005t0003g0352 a0009c0008t0001g0288 a0010c0009t0001g0310	61	74	0.8243	19	c.24+ others(32): Show c.24+883_24+884insTTTTTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72688411	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00735.hp1 others(14): Show HG00099.hp2 HG00558.hp2 HG00735.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01891.hp2 HG02258.hp1 HG02698.hp2 HG02735.hp2 HG03017.hp1 HG03139.hp1 HG03942.hp2 HG06807.hp2 NA19030.hp1 NA20752.hp2	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0006c0012 a0008c0011 a0001c0001 a0006c0012 a0008c0011	a0001c0001t0001 a0001c0001t0007 a0006c0012t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0006c0012t0001 a0008c0011t0001	a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0034 others(14): Show a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0007g0043 a0006c0012t0001g0033 a0008c0011t0001g0041	17	34	0.5000	19	c.24+ others(34): Show c.24+2162_24+2180dupTTTTTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72702802	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG01361.hp1 others(15): Show HG00621.hp1 HG00621.hp2 HG01361.hp1 HG01516.hp1 HG01943.hp2 HG02027.hp2 HG03831.hp2 NA18942.hp2 NA18945.hp1 NA18977.hp2 NA18985.hp1 NA18986.hp2 NA19009.hp1 NA19030.hp1 NA19054.hp2 NA19075.hp2 NA19079.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0029 others(15): Show a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151	18	36	0.5000	19	c.77- others(34): Show c.77-6893_77-6875dupTTTTTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS9_chr7_33124564_33611069	33231428	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG01261.hp1 others(5): Show HG00280.hp2 HG00544.hp2 HG01261.hp1 HG03927.hp2 HG04199.hp2 NA18993.hp1 NA19063.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0242 a0001c0001t0001g0256 a0001c0001t0001g0262 others(5): Show a0001c0001t0001g0242 a0001c0001t0001g0256 a0001c0001t0001g0262 a0001c0001t0002g0247 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0006g0243	8	60	0.1333	19	c.443 others(38): Show c.443-25791_443-25790insTTTTTTTTTTTTTTTTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33435527	C C	CTCTATTG others(12): Show CTCTATTGAAAGGAACTAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(181): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18967.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA19000.hp2 NA19001.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19063.hp1 NA19063.hp2 NA19070.hp2 NA19077.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0013 a0015	a0001c0001 a0001c0009 a0001c0010 others(15): Show a0001c0001 a0001c0009 a0001c0010 a0001c0013 a0001c0020 a0001c0021 a0001c0023 a0001c0026 a0002c0002 a0002c0017 a0003c0003 a0004c0004 a0004c0022 a0005c0005 a0006c0011 a0009c0008 a0013c0018 a0015c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0009t0001 a0001c0010t0001 a0001c0013t0010 a0001c0020t0002 a0001c0021t0001 a0001c0023t0001 a0001c0026t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0011 a0002c0002t0014 a0002c0002t0019 a0002c0017t0001 a0003c0003t0001 a0004c0004t0001 a0004c0022t0001 a0005c0005t0001 a0005c0005t0007 a0006c0011t0001 a0009c0008t0001 a0009c0008t0002 a0013c0018t0001 a0015c0024t0011	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 others(181): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0002g0048 a0001c0001t0002g0112 a0001c0001t0002g0163 a0001c0001t0002g0172 a0001c0001t0002g0190 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0247 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0264 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0027 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0004g0013 a0001c0001t0005g0059 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0202 a0001c0001t0005g0218 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0243 a0001c0001t0007g0228 a0001c0001t0008g0209 a0001c0001t0008g0210 a0001c0001t0008g0232 a0001c0001t0008g0233 a0001c0001t0009g0211 a0001c0001t0009g0214 a0001c0001t0009g0215 a0001c0001t0010g0170 a0001c0001t0012g0212 a0001c0001t0012g0213 a0001c0001t0013g0041 a0001c0001t0013g0042 a0001c0001t0016g0071 a0001c0001t0017g0226 a0001c0001t0018g0171 a0001c0009t0001g0240 a0001c0009t0001g0241 a0001c0010t0001g0079 a0001c0010t0001g0167 a0001c0013t0010g0260 a0001c0020t0002g0069 a0001c0021t0001g0251 a0001c0023t0001g0168 a0001c0026t0001g0068 a0002c0002t0001g0136 a0002c0002t0001g0160 a0002c0002t0001g0179 a0002c0002t0001g0189 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0219 a0002c0002t0001g0224 a0002c0002t0002g0188 a0002c0002t0003g0003 a0002c0002t0003g0004 a0002c0002t0003g0011 a0002c0002t0003g0017 a0002c0002t0003g0023 a0002c0002t0003g0026 a0002c0002t0003g0028 a0002c0002t0003g0031 a0002c0002t0004g0001 a0002c0002t0004g0002 a0002c0002t0004g0006 a0002c0002t0004g0007 a0002c0002t0004g0010 a0002c0002t0004g0012 a0002c0002t0004g0015 a0002c0002t0004g0018 a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0025 a0002c0002t0004g0032 a0002c0002t0004g0034 a0002c0002t0004g0035 a0002c0002t0005g0192 a0002c0002t0007g0165 a0002c0002t0007g0166 a0002c0002t0011g0014 a0002c0002t0011g0016 a0002c0002t0014g0005 a0002c0002t0014g0029 a0002c0002t0019g0043 a0002c0017t0001g0267 a0003c0003t0001g0047 a0003c0003t0001g0060 a0003c0003t0001g0205 a0003c0003t0001g0207 a0003c0003t0001g0208 a0004c0004t0001g0182 a0004c0004t0001g0183 a0004c0004t0001g0184 a0004c0004t0001g0186 a0004c0004t0001g0187 a0004c0022t0001g0185 a0005c0005t0001g0139 a0005c0005t0001g0180 a0005c0005t0007g0128 a0005c0005t0007g0138 a0006c0011t0001g0236 a0006c0011t0001g0238 a0009c0008t0001g0122 a0009c0008t0002g0121 a0013c0018t0001g0127 a0015c0024t0011g0024	184	266	0.6917	19	c.211 others(40): Show c.2115+47389_2115+47390insGAAAGGAACTAAATCTATT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33536676	G G	GGCCTTCC others(12): Show GGCCTTCCCCCCGCCCCCCC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03927.hp2 HG02602.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0246 a0001c0001t0002g0255 a0001c0001t0001g0246 a0001c0001t0002g0255	2	173	0.0116	19	c.252 others(38): Show c.2521+2518_2521+2519insCGCCTTCCCCCCGCCCCCC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33536681	T T	TCCCCCCG others(12): Show TCCCCCCGCCCCCCGCCTTC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0194 a0002c0002t0001g0194	1	103	0.0097	19	c.252 others(38): Show c.2521+2522_2521+2523insTCCCCCCCGCCCCCCGCCT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33565843	C C	CCATATAT others(12): Show CCATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0171 a0001c0001t0018g0171	1	186	0.0054	19	c.252 others(40): Show c.2521+31667_2521+31668insCATATATATATATATATAT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22			chr7	TogoVar
BBX_chr3_107517962_107816339	107779021	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	220	0.0045	19	c.220 others(36): Show c.2203+502_2203+503insTATATATATATATATATAT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	13/17			chr3	TogoVar
BCAS1_chr20_53938541_54075594	54041908	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02055.hp1 NA20905.hp2 HG00735.hp1 HG02055.hp1 NA20905.hp2	a0001 a0012 a0036 a0001 a0012 a0036	a0001c0017 a0012c0013 a0036c0046 a0001c0017 a0012c0013 a0036c0046	a0001c0017t0013 a0012c0013t0001 a0036c0046t0002 a0001c0017t0013 a0012c0013t0001 a0036c0046t0002	a0001c0017t0013g0205 a0012c0013t0001g0153 a0036c0046t0002g0284 a0001c0017t0013g0205 a0012c0013t0001g0153 a0036c0046t0002g0284	3	239	0.0126	19	c.143 others(38): Show c.143-12937_143-12936insTTTTTTTTTTTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	3/12			chr20	TogoVar
BCAS3_chr17_60672851_61397831	60955386	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03130.hp2 NA20129.hp1 HG01952.hp2 HG03130.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0002c0006 a0001c0002 a0002c0005 a0002c0006	a0001c0002t0002 a0002c0005t0001 a0002c0006t0002 a0001c0002t0002 a0002c0005t0001 a0002c0006t0002	a0001c0002t0002g0057 a0002c0005t0001g0020 a0002c0006t0002g0030 a0001c0002t0002g0057 a0002c0005t0001g0020 a0002c0006t0002g0030	3	37	0.0811	19	c.122 others(38): Show c.1221+8035_1221+8053dupTTTTTTTTTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61044465	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03209.hp2 HG03139.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0068 a0001c0002t0002g0001 a0001c0002t0002g0068	2	26	0.0769	19	c.202 others(38): Show c.2029+3574_2029+3575insAAAAAAAAAAAAATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61044465	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02615.hp2 others(3): Show HG02145.hp2 HG02451.hp1 HG02615.hp2 HG02897.hp1 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0002 a0001c0002t0001 a0001c0008t0002	a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0001g0065 others(3): Show a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0071 a0001c0008t0002g0062	6	30	0.2000	19	c.202 others(38): Show c.2029+3574_2029+3575insAAAAAAAAAAATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61044465	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0064 a0001c0002t0002g0064	1	25	0.0400	19	c.202 others(38): Show c.2029+3574_2029+3575insAAAAAAAAATATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61046014	A A	ATATATAT others(12): Show ATATATATAATATATATATT	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA20300.hp1 HG03041.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0045 a0001c0004t0002g0044 a0001c0004t0001g0045 a0001c0004t0002g0044	2	74	0.0270	19	c.202 others(38): Show c.2029+5130_2029+5131insATATATATATTTATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61059063	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0034 a0001c0004t0001g0034	1	6	0.1667	19	c.203 others(40): Show c.2030-15838_2030-15820dupTTTTTTTTTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61089509	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	6	0.1667	19	c.242 others(38): Show c.2425+4965_2425+4983dupTTTTTTTTTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61308152	T T	TGGCCAAG others(12): Show TGGCCAAGCCCTGGAAGTGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02615.hp1 others(14): Show HG01891.hp2 HG02145.hp2 HG02615.hp1 HG02615.hp2 HG02818.hp2 HG02886.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 NA19043.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0002c0003 others(3): Show a0001c0002 a0001c0004 a0002c0003 a0002c0005 a0002c0007 a0003c0001	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0002c0003t0001 a0002c0003t0002 a0002c0005t0001 a0002c0007t0001 a0003c0001t0001	a0001c0002t0001g0056 a0001c0002t0001g0059 a0001c0002t0001g0061 others(14): Show a0001c0002t0001g0056 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0002g0053 a0001c0002t0002g0070 a0001c0004t0001g0043 a0001c0004t0002g0050 a0002c0003t0001g0017 a0002c0003t0001g0037 a0002c0003t0001g0041 a0002c0003t0002g0036 a0002c0005t0001g0018 a0002c0005t0001g0020 a0002c0007t0001g0004 a0003c0001t0001g0024	17	74	0.2297	19	c.242 others(40): Show c.2426-60168_2426-60167insCCCTGGAAGTGCGGCCAAG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAT1_chr12_24805024_24954101	24887061	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0254 a0001c0001t0036g0254	1	163	0.0061	19	c.280 others(36): Show c.280-5669_280-5651dupTTTTTTTTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0102 a0001c0001t0104g0102	1	169	0.0059	19	c.280 others(36): Show c.280-5670_280-5669insATATATTTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0032 a0001c0001t0014 a0001c0001t0032	a0001c0001t0014g0271 a0001c0001t0032g0272 a0001c0001t0014g0271 a0001c0001t0032g0272	2	170	0.0118	19	c.280 others(36): Show c.280-5670_280-5669insATATATATATATATATATA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24951590	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0287 a0001c0001t0009g0287	1	2	0.5000	19	c.-26 others(30): Show c.-2659_-2658insTTTTTTTTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding		2490		chr12	TogoVar
BCAT2_chr19_48790064_48816029	48811494	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG03209.hp2 NA18944.hp2 others(1): Show HG01433.hp2 HG03209.hp2 NA18944.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0017 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0063	4	107	0.0374	19	c.-48 others(28): Show c.-488_-487insTTTTTTTTTTTTTTTTTTT	BCAT2	ENSG00000105552.15	transcript	ENST00000316273.11	protein_coding		466		chr19	TogoVar
BCHE_chr3_165767904_165842423	165840290	A A	AGATAGAT others(12): Show AGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01934.hp2 HG02735.hp1 others(1): Show HG01517.hp2 HG01934.hp2 HG02735.hp1 HG03540.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0004 a0002c0002 a0005c0004	a0002c0002t0004 a0005c0004t0004 a0002c0002t0004 a0005c0004t0004	a0002c0002t0004g0002 a0002c0002t0004g0003 a0002c0002t0004g0036 others(1): Show a0002c0002t0004g0002 a0002c0002t0004g0003 a0002c0002t0004g0036 a0005c0004t0004g0034	4	301	0.0133	19	c.-29 others(30): Show c.-2986_-2985insATCTATCTATCTATCTATC	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding		2868		chr3	TogoVar
BCKDHA_chr19_41392818_41430002	41412380	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(60): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00558.hp2 HG00733.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01517.hp2 HG01981.hp1 HG02055.hp2 HG02165.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03239.hp1 HG03453.hp2 HG03490.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG04199.hp1 HG04199.hp2 NA18612.hp2 NA18939.hp2 NA18943.hp1 NA18947.hp2 NA18954.hp2 NA18961.hp1 NA18964.hp2 NA18967.hp2 NA19002.hp2 NA19003.hp1 NA19056.hp2 NA19062.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19086.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0001c0011 others(3): Show a0001c0001 a0001c0007 a0001c0011 a0002c0003 a0002c0010 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 a0001c0011t0001 a0002c0003t0001 a0002c0010t0001 a0003c0005t0001	a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0024 others(49): Show a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0003g0117 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0007t0001g0234 a0001c0011t0001g0248 a0002c0003t0001g0033 a0002c0003t0001g0184 a0002c0003t0001g0185 a0002c0003t0001g0251 a0002c0010t0001g0183 a0003c0005t0001g0036 a0003c0005t0001g0218 a0003c0005t0001g0220	63	192	0.3281	19	c.375 others(36): Show c.375+1389_375+1390insTTTTTTTTTTTTTTTTTTT	BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
BCKDK_chr16_31103386_31117791	31117401	T T	TAAATAAA others(12): Show TAAATAAATAAATAAATAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	298	0.0034	19	c.51 others(30): Show c.5136_*5137insAAATAAATAAATAAATAAA	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		4611		chr16	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(12): Show ATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 NA20752.hp2 HG01175.hp1 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0076 a0002c0002t0003g0086 a0002c0002t0002g0076 a0002c0002t0003g0086	2	220	0.0091	19	c.-43 others(30): Show c.-4377_-4376insAAATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L11_chr2_111115914_111173444	111170699	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 NA18940.hp2 HG01891.hp1 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0047 a0001c0001t0004g0262 a0001c0001t0003g0047 a0001c0001t0004g0262	2	65	0.0308	19	c.64 others(30): Show c.6468_*6469insAAAAAAAAAAAAAAAAAAA	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding		2256		chr2	TogoVar
BCL2L13_chr22_17633757_17735855	17715170	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03834.hp2 HG00408.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0068 a0001c0002t0001 a0001c0002t0068	a0001c0002t0001g0284 a0001c0002t0068g0292 a0001c0002t0001g0284 a0001c0002t0068g0292	2	252	0.0079	19	c.601 others(38): Show c.601-11506_601-11505insATATATATATATATATATT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715170	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0057 a0002c0003t0057	a0002c0003t0057g0272 a0002c0003t0057g0272	1	251	0.0040	19	c.601 others(38): Show c.601-11506_601-11505insATATATATATATATTTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715171	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0288 a0001c0002t0001g0288	1	300	0.0033	19	c.601 others(38): Show c.601-11506_601-11505insATATATATATATATATATA	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6			chr22	TogoVar
BCL2L1_chr20_31659458_31727868	31697892	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	67	0.0149	19	c.564 others(38): Show c.564+23762_564+23763insAAAAAAAAAAAAAAAAAAA	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL6_chr3_187716381_187750468	187724874	G G	GCTCCACC others(12): Show GCTCCACCTCCTTCCCTGCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp2 HG01106.hp1 others(44): Show HG00323.hp1 HG00741.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01257.hp1 HG01361.hp1 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG02293.hp1 HG02615.hp1 HG02970.hp2 HG03195.hp2 HG03491.hp1 HG03710.hp1 HG04115.hp1 NA18947.hp2 NA18950.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp2 NA18973.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18987.hp1 NA18991.hp2 NA18994.hp1 NA18997.hp2 NA18999.hp2 NA19004.hp2 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp2 NA19064.hp1 NA19070.hp1 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0013 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0205 a0001c0001t0001g0238 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0334 a0001c0001t0001g0345 a0001c0001t0001g0362 a0005c0007t0001g0114	47	402	0.1169	19	c.197 others(34): Show c.1977+48_1977+66dupGGCAGGGAAGGAGGTGGAG	BCL6	ENSG00000113916.18	transcript	ENST00000406870.7	protein_coding	9/9			chr3	TogoVar
BCL7B_chr7_73531356_73562690	73540829	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	9	0.1111	19	c.266 others(34): Show c.266-796_266-778dupTTTTTTTTTTTTTTTTTTT	BCL7B	ENSG00000106635.8	transcript	ENST00000223368.7	protein_coding	3/5			chr7	TogoVar
BCL9_chr1_147536501_147631216	147540231	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0005 a0005c0009t0005	a0005c0009t0005g0032 a0005c0009t0005g0032	1	7	0.1429	19	c.-19 others(30): Show c.-1921_-1920insCTCTCTCTCTCTCTCTCTC	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		1269		chr1	TogoVar
BCO1_chr16_81233689_81296142	81246850	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	225	0.0044	19	c.193 others(36): Show c.193+1265_193+1266insAAAAAAAAAAAAAAAAAAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
BCORL1_chrX_129977635_130063071	130043784	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0103 a0001c0019t0001g0103	1	136	0.0074	19	c.484 others(38): Show c.4840+4503_4840+4504insATATATATATATATATTTT	BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chrX	TogoVar
BCORL1_chrX_129977635_130063071	130043785	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19086.hp1 NA19005.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0135 a0001c0001t0001g0104 a0001c0001t0001g0135	2	147	0.0136	19	c.484 others(38): Show c.4840+4503_4840+4504insATATATATATATATATATA	BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	11/13			chrX	TogoVar
BCORL1_chrX_129977635_130063071	130058089	G G	GTCTCCCG others(12): Show GTCTCCCGTCTCTCTTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	201	0.0050	19	c.19 others(30): Show c.1953_*1954insTCTCCCGTCTCTCTTTTTC	BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding		19		chrX	TogoVar
BCOR_chrX_40046251_40102958	40056281	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0145 a0001c0006t0001g0145	1	127	0.0079	19	c.459 others(36): Show c.4596-787_4596-769dupTTTTTTTTTTTTTTTTTTT	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding	11/14			chrX	TogoVar
BDH1_chr3_197504783_197560968	197510599	G G	GGGTGTGT others(12): Show GGGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	181	0.0055	19	c.12 others(30): Show c.1295_*1296insACACACACACACACACACC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1295		chr3	TogoVar
BDH1_chr3_197504783_197560968	197510684	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0042 a0001c0001t0034g0042	1	186	0.0054	19	c.12 others(30): Show c.1210_*1211insACACACACACACACACACA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1210		chr3	TogoVar
BDKRB2_chr14_96199839_96249164	96211697	G G	GCCAGGCA others(12): Show GCCAGGCACAGGGATTGAAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	434	0.0023	19	c.-40 others(36): Show c.-40+6741_-40+6759dupAGGCACAGGGATTGAATCC	BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
BDKRB2_chr14_96199839_96249164	96216733	A A	AAGGAGGA others(12): Show AAGGAGGAGGAGGAGGAAGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp1 HG02818.hp1 others(4): Show HG02145.hp2 HG02809.hp1 HG02818.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0049 a0001c0001t0055	a0001c0001t0001g0080 a0001c0001t0004g0078 a0001c0001t0018g0016 others(3): Show a0001c0001t0001g0080 a0001c0001t0004g0078 a0001c0001t0018g0016 a0001c0001t0018g0079 a0001c0001t0049g0147 a0001c0001t0055g0086	7	386	0.0181	19	c.-40 others(38): Show c.-40+11810_-40+11828dupAGGAGGAGGAGGAGGAGGA	BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
BDNF_chr11_27649893_27705455	27685823	G G	GGAAGTAA others(12): Show GGAAGTAATTTTAGAATAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00423.hp1 others(147): Show HG00099.hp1 HG00280.hp1 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02055.hp2 HG02071.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0015 others(118): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0170 a0001c0001t0004g0010 a0001c0001t0004g0014 a0001c0001t0004g0027 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0057 a0001c0001t0004g0100 a0001c0001t0004g0105 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0146 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0171 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0182 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0008g0009 a0001c0001t0008g0094 a0001c0001t0008g0098 a0001c0001t0008g0099 a0001c0001t0008g0101 a0001c0001t0008g0103 a0001c0001t0008g0104 a0001c0001t0008g0111 a0001c0001t0008g0244 a0001c0001t0009g0028 a0001c0001t0009g0135 a0001c0001t0009g0162 a0001c0001t0009g0163 a0001c0001t0009g0164 a0001c0001t0015g0113 a0001c0001t0015g0156 a0001c0001t0017g0237 a0001c0001t0017g0238 a0001c0001t0019g0112 a0001c0001t0021g0160 a0001c0001t0022g0159 a0001c0001t0023g0106	150	358	0.4190	19	c.-22 others(38): Show c.-22+14340_-22+14341insATTATTCTAAAATTACTTC	BDNF	ENSG00000176697.20	transcript	ENST00000356660.9	protein_coding	1/1			chr11	TogoVar
BEST3_chr12_69648609_69704303	69680310	C C	CTTCTTTT others(12): Show CTTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG01496.hp2 others(19): Show HG00423.hp1 HG00609.hp1 HG01496.hp2 HG02027.hp1 HG02027.hp2 HG02080.hp2 HG02293.hp2 HG02602.hp1 HG02602.hp2 HG02886.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 NA19011.hp2 NA19062.hp2 NA19090.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0002c0002t0002 a0002c0002t0003 a0003c0003t0001	a0001c0001t0001g0235 a0001c0001t0001g0274 a0001c0001t0001g0285 others(18): Show a0001c0001t0001g0235 a0001c0001t0001g0274 a0001c0001t0001g0285 a0001c0001t0002g0263 a0001c0001t0002g0268 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0281 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0309 a0001c0001t0003g0207 a0001c0001t0014g0297 a0002c0002t0002g0034 a0002c0002t0002g0243 a0002c0002t0002g0247 a0002c0002t0002g0250 a0002c0002t0003g0246 a0003c0003t0001g0232	22	152	0.1447	19	c.482 others(36): Show c.482-1418_482-1417insAAAAAAAAAAAAAAAAGAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BEST4_chr1_44778585_44793170	44784115	G G	GGAAAAGC others(12): Show GGAAAAGCTGCTCTAATAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0025 a0001c0001t0009g0025	1	388	0.0026	19	c.76 others(26): Show c.76_*94dupTCTATTAGAGCAGCTTTTC	BEST4	ENSG00000142959.5	transcript	ENST00000372207.4	protein_coding	9/9	94		chr1	TogoVar
BFSP2_chr3_133395056_133480208	133424216	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	224	0.0045	19	c.490 others(38): Show c.490-23101_490-23100insGTGTGTGTGTGTGTGTGTG	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6			chr3	TogoVar
BFSP2_chr3_133395056_133480208	133449964	A A	AAGGAAAG others(12): Show AAGGAAAGAAAGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01175.hp1 HG02735.hp1 others(1): Show HG00099.hp2 HG01175.hp1 HG02735.hp1 HG04204.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0006 a0001c0001 a0002c0003 a0004c0006	a0001c0001t0001 a0002c0003t0001 a0004c0006t0001 a0001c0001t0001 a0002c0003t0001 a0004c0006t0001	a0001c0001t0001g0013 a0001c0001t0001g0069 a0002c0003t0001g0219 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0069 a0002c0003t0001g0219 a0004c0006t0001g0172	4	242	0.0165	19	c.730 others(34): Show c.730-339_730-338insAGGAAAGAAAGAAAGGAAG	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	3/6			chr3	TogoVar
BHLHA9_chr17_1265444_1276815	1269086	T T	TGGGCAAG others(12): Show TGGGCAAGGCAGACAATCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18983.hp1 NA18961.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	440	0.0045	19	c.-14 others(30): Show c.-1478_-1477insGGGCAAGGCAGACAATCAC	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		1357		chr17	TogoVar

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