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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SPPL3_chr12_120757510_120909358	120845858	TTATCTAT others(5): Show TTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01106.hp1 HG01243.hp2 others(5): Show HG00280.hp2 HG01106.hp1 HG01243.hp2 HG01255.hp2 HG01515.hp1 HG02622.hp2 HG03540.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0002t0005 a0001c0001t0002 a0001c0001t0008 a0001c0002t0005	a0001c0001t0002g0017 a0001c0001t0002g0037 a0001c0001t0008g0118 others(5): Show a0001c0001t0002g0017 a0001c0001t0002g0037 a0001c0001t0008g0118 a0001c0001t0008g0119 a0001c0001t0008g0120 a0001c0002t0005g0073 a0001c0002t0005g0074 a0001c0002t0005g0147	8	320	0.0250	-12	c.24- others(29): Show c.24-34984_24-34973delGATAGATAGATA		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120853983	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02698.hp2 HG02922.hp1 others(7): Show HG02486.hp1 HG02698.hp2 HG02922.hp1 HG03195.hp1 HG03239.hp1 HG03491.hp1 HG03704.hp2 HG03831.hp1 HG04184.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0009 a0001c0001t0013 a0001c0003t0009 others(1): Show a0001c0001t0009 a0001c0001t0013 a0001c0003t0009 a0001c0004t0009	a0001c0001t0009g0208 a0001c0001t0009g0209 a0001c0001t0009g0211 others(7): Show a0001c0001t0009g0208 a0001c0001t0009g0209 a0001c0001t0009g0211 a0001c0001t0009g0213 a0001c0001t0009g0217 a0001c0001t0013g0030 a0001c0003t0009g0215 a0001c0003t0009g0216 a0001c0003t0009g0218 a0001c0004t0009g0210	10	320	0.0313	-12	c.24- others(29): Show c.24-43109_24-43098delGTGTGTGTGTGT		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120876808	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0148 a0001c0002t0006g0148	1	320	0.0031	-12	c.23+ others(29): Show c.23+27025_23+27036delGTGTGTGTGTGT		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPRED1_chr15_38247836_38362249	38251697	AACACACA others(5): Show AACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01070.hp2 HG01074.hp1 others(17): Show HG00738.hp1 HG01070.hp2 HG01074.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG02132.hp1 HG03239.hp1 HG03491.hp1 HG04184.hp1 NA18941.hp1 NA18945.hp2 NA18968.hp1 NA18981.hp1 NA19011.hp1 NA19012.hp2 NA19060.hp2 NA19072.hp2 NA19080.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0042 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0042 a0001c0002t0003	a0001c0001t0002g0265 a0001c0001t0004g0010 a0001c0001t0004g0346 others(15): Show a0001c0001t0002g0265 a0001c0001t0004g0010 a0001c0001t0004g0346 a0001c0001t0004g0347 a0001c0001t0004g0355 a0001c0001t0004g0356 a0001c0001t0004g0357 a0001c0001t0004g0358 a0001c0001t0042g0343 a0001c0002t0003g0002 a0001c0002t0003g0032 a0001c0002t0003g0052 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0003g0059	20	378	0.0529	-12	c.-14 others(23): Show c.-1488_-1477delACACACACACAC		SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding					1138		chr15	TogoVar
SPRED1_chr15_38247836_38362249	38266643	AAAACAAA others(5): Show AAAACAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(275): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0002c0003t0002	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(269): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0335 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0002g0009 a0001c0001t0002g0017 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0004g0010 a0001c0001t0004g0163 a0001c0001t0004g0320 a0001c0001t0004g0322 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0004g0340 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0004g0344 a0001c0001t0004g0345 a0001c0001t0004g0346 a0001c0001t0004g0347 a0001c0001t0004g0348 a0001c0001t0004g0349 a0001c0001t0004g0350 a0001c0001t0004g0351 a0001c0001t0004g0352 a0001c0001t0004g0353 a0001c0001t0004g0354 a0001c0001t0004g0355 a0001c0001t0004g0356 a0001c0001t0004g0357 a0001c0001t0004g0358 a0001c0001t0004g0363 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0092 a0001c0001t0005g0180 a0001c0001t0005g0182 a0001c0001t0005g0183 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0215 a0001c0001t0005g0216 a0001c0001t0005g0364 a0001c0001t0007g0205 a0001c0001t0007g0206 a0001c0001t0007g0207 a0001c0001t0007g0208 a0001c0001t0007g0209 a0001c0001t0007g0210 a0001c0001t0007g0211 a0001c0001t0007g0212 a0001c0001t0007g0222 a0001c0001t0009g0311 a0001c0001t0009g0312 a0001c0001t0009g0313 a0001c0001t0009g0314 a0001c0001t0009g0315 a0001c0001t0009g0318 a0001c0001t0009g0319 a0001c0001t0010g0088 a0001c0001t0010g0217 a0001c0001t0010g0218 a0001c0001t0010g0219 a0001c0001t0010g0220 a0001c0001t0011g0099 a0001c0001t0011g0100 a0001c0001t0011g0101 a0001c0001t0011g0103 a0001c0001t0016g0359 a0001c0001t0016g0360 a0001c0001t0016g0361 a0001c0001t0017g0123 a0001c0001t0017g0124 a0001c0001t0017g0125 a0001c0001t0018g0316 a0001c0001t0018g0317 a0001c0001t0022g0295 a0001c0001t0022g0307 a0001c0001t0024g0251 a0001c0001t0029g0240 a0001c0001t0030g0181 a0001c0001t0031g0269 a0001c0001t0032g0260 a0001c0001t0033g0200 a0001c0001t0034g0179 a0001c0001t0035g0098 a0001c0001t0037g0235 a0001c0001t0038g0365 a0001c0001t0039g0285 a0001c0001t0040g0271 a0001c0001t0041g0102 a0001c0001t0042g0343 a0001c0001t0043g0321 a0001c0001t0045g0255 a0001c0001t0046g0015 a0002c0003t0002g0248	278	378	0.7355	-12	c.32+ others(29): Show c.32+13448_32+13459delAACAAACAAACA		SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr15	TogoVar
SPRED1_chr15_38247836_38362249	38273519	TAATATAT others(5): Show TAATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0176 a0001c0002t0019g0176	1	378	0.0027	-12	c.32+ others(29): Show c.32+20303_32+20314delAATATATATATA		SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	1/6						chr15	TogoVar
SPRED1_chr15_38247836_38362249	38273520	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp1 HG02970.hp1 others(1): Show HG02451.hp2 HG02922.hp1 HG02970.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0004 a0001c0002t0012g0089 a0001c0002t0012g0090 a0001c0002t0012g0004 a0001c0002t0012g0089 a0001c0002t0012g0090	4	378	0.0106	-12	c.32+ others(29): Show c.32+20330_32+20341delATATATATATAT		SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr15	TogoVar
SPRED2_chr2_65305851_65437599	65310458	TACACACA others(5): Show TACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG03017.hp2 HG03927.hp2 others(1): Show HG01891.hp2 HG03017.hp2 HG03927.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0171 a0001c0001t0003g0200 others(1): Show a0001c0001t0003g0093 a0001c0001t0003g0171 a0001c0001t0003g0200 a0001c0001t0003g0266	4	276	0.0145	-12	c.30 others(23): Show c.3031_*3042delGTGTGTGTGTGT		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding					392		chr2	TogoVar
SPRED2_chr2_65305851_65437599	65317513	AAACAACA others(5): Show AAACAACAACAAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(94): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG01081.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02273.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03017.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18747.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp2 NA18990.hp2 NA18992.hp2 NA18999.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19058.hp1 NA19068.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0001c0007 others(2): Show a0001c0002 a0001c0005 a0001c0007 a0001c0009 a0002c0008	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(11): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0013 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0005t0001 a0001c0007t0001 a0001c0009t0001 a0002c0008t0001	a0001c0002t0001g0091 a0001c0002t0001g0095 a0001c0002t0001g0096 others(94): Show a0001c0002t0001g0091 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0131 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0199 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0262 a0001c0002t0002g0046 a0001c0002t0002g0056 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0004g0006 a0001c0002t0004g0016 a0001c0002t0004g0021 a0001c0002t0004g0061 a0001c0002t0004g0066 a0001c0002t0004g0069 a0001c0002t0004g0074 a0001c0002t0004g0075 a0001c0002t0004g0090 a0001c0002t0013g0178 a0001c0002t0015g0117 a0001c0002t0016g0108 a0001c0002t0017g0094 a0001c0002t0018g0158 a0001c0002t0019g0229 a0001c0005t0001g0122 a0001c0007t0001g0201 a0001c0009t0001g0221 a0002c0008t0001g0132	97	276	0.3515	-12	c.439 others(27): Show c.439-642_439-631delGTTGTTGTTGTT		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	4/5						chr2	TogoVar
SPRED2_chr2_65305851_65437599	65317549	CAACAACA others(5): Show CAACAACAACAAA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03540.hp1 HG03225.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0014 a0001c0001t0012 a0001c0001t0014	a0001c0001t0012g0008 a0001c0001t0014g0208 a0001c0001t0012g0008 a0001c0001t0014g0208	2	276	0.0073	-12	c.439 others(27): Show c.439-678_439-667delTTTGTTGTTGTT		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	4/5						chr2	TogoVar
SPRED2_chr2_65305851_65437599	65338187	CCCTCTCC others(5): Show CCCTCTCCCGTCT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01243.hp1 HG01891.hp2 others(9): Show HG01167.hp2 HG01243.hp1 HG01891.hp2 HG02109.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp2 HG02965.hp1 HG03195.hp1 HG03209.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0021 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0021 a0001c0001t0023	a0001c0001t0003g0240 a0001c0001t0003g0250 a0001c0001t0003g0266 others(9): Show a0001c0001t0003g0240 a0001c0001t0003g0250 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0006g0234 a0001c0001t0006g0265 a0001c0001t0006g0269 a0001c0001t0021g0268 a0001c0001t0023g0270	12	276	0.0435	-12	c.205 others(29): Show c.205-3426_205-3415delAGACGGGAGAGG		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5						chr2	TogoVar
SPRED2_chr2_65305851_65437599	65360100	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0235 a0001c0001t0003g0235	1	276	0.0036	-12	c.27- others(29): Show c.27-15216_27-15205delTTTTTTTTTTTT		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	1/5						chr2	TogoVar
SPRED2_chr2_65305851_65437599	65363000	GTTTTGTT others(5): Show GTTTTGTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02976.hp1 NA20300.hp1 HG02451.hp1 HG02976.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0002t0001g0204 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0002t0001g0204	3	276	0.0109	-12	c.27- others(29): Show c.27-18116_27-18105delAAAAAAACAAAA		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	1/5						chr2	TogoVar
SPRED2_chr2_65305851_65437599	65409691	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	276	0.0036	-12	c.26+ others(29): Show c.26+22259_26+22270delTTTTTTTTTTTT		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	1/5						chr2	TogoVar
SPRED2_chr2_65305851_65437599	65419577	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00741.hp1 others(26): Show HG00140.hp1 HG00323.hp2 HG00741.hp1 HG01074.hp1 HG01192.hp2 HG01255.hp1 HG01981.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02602.hp2 HG02615.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp1 HG03516.hp2 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA18950.hp2 NA19043.hp2 NA19079.hp1 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0020 a0001c0002t0002 a0001c0002t0004	a0001c0001t0002g0026 a0001c0001t0003g0206 a0001c0001t0003g0212 others(26): Show a0001c0001t0002g0026 a0001c0001t0003g0206 a0001c0001t0003g0212 a0001c0001t0003g0235 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0005g0211 a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0216 a0001c0001t0005g0217 a0001c0001t0005g0218 a0001c0001t0005g0219 a0001c0001t0006g0265 a0001c0001t0007g0251 a0001c0001t0020g0215 a0001c0002t0002g0056 a0001c0002t0004g0024	29	276	0.1051	-12	c.26+ others(29): Show c.26+12373_26+12384delCACACACACACA		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	1/5						chr2	TogoVar
SPRED3_chr19_38383697_38404587	38391681	TGAGACTG others(5): Show TGAGACTGGGAGG	T T	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	360	0.0028	-12	c.178 others(27): Show c.178-264_178-253delGAGACTGGGAGG		SPRED3	ENSG00000188766.13	transcript	ENST00000691638.1	protein_coding	2/5						chr19	TogoVar
SPRING1_chr12_116705171_116743069	116705342	CTCAATCA others(5): Show CTCAATCAATCAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0016 a0001c0001t0009g0016	1	362	0.0028	-12	c.12 others(25): Show c.12456_*12467delTTGATTGATTGA		SPRING1	ENSG00000111412.6	transcript	ENST00000261318.5	protein_coding					4828		chr12	TogoVar
SPRN_chr10_133415666_133429625	133423454	CGCCGCCC others(5): Show CGCCGCCCCGGCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp2 HG00544.hp2 HG00609.hp2 others(31): Show HG00408.hp2 HG00544.hp2 HG00609.hp2 HG00621.hp2 HG01255.hp1 HG02155.hp1 HG04184.hp1 NA18612.hp2 NA18747.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18957.hp2 NA18964.hp2 NA18973.hp1 NA18982.hp2 NA18989.hp2 NA18993.hp1 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19064.hp1 NA19074.hp1 NA19076.hp2 NA19079.hp2 NA19080.hp2 NA19087.hp1 NA19089.hp2 NA19090.hp2	a0003 a0006 a0003 a0006	a0003c0004 a0006c0014 a0003c0004 a0006c0014	a0003c0004t0004 a0003c0004t0005 a0003c0004t0006 others(4): Show a0003c0004t0004 a0003c0004t0005 a0003c0004t0006 a0003c0004t0007 a0003c0004t0008 a0003c0004t0018 a0006c0014t0001	a0003c0004t0004g0019 a0003c0004t0005g0008 a0003c0004t0006g0020 others(4): Show a0003c0004t0004g0019 a0003c0004t0005g0008 a0003c0004t0006g0020 a0003c0004t0007g0027 a0003c0004t0008g0023 a0003c0004t0018g0037 a0006c0014t0001g0083	34	474	0.0717	-12	c.216 others(19): Show c.216_227delAGCCGGGGCGGC	p.Ala others(11): Show p.Ala73_Ala76del	SPRN	ENSG00000203772.8	transcript	ENST00000685335.1	protein_coding	2/2	396/3185	216/456	72/151			chr10	TogoVar
SPRN_chr10_133415666_133429625	133423469	CGCCCCGG others(5): Show CGCCCCGGCGGCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0039 a0003c0008t0003g0039	2	474	0.0042	-12	c.201 others(19): Show c.201_212delTGCCGCCGGGGC	p.Ala others(11): Show p.Ala68_Ala71del	SPRN	ENSG00000203772.8	transcript	ENST00000685335.1	protein_coding	2/2	381/3185	201/456	67/151			chr10	TogoVar
SPRN_chr10_133415666_133429625	133428235	CTTAAAGA others(5): Show CTTAAAGAGGTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02615.hp1 others(3): Show HG02257.hp2 HG02451.hp2 HG02615.hp1 HG02922.hp2 HG03209.hp1 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0014 a0002c0003t0003g0014	6	474	0.0127	-12	c.-37 others(23): Show c.-3791_-3780delTCACCTCTTTAA		SPRN	ENSG00000203772.8	transcript	ENST00000685335.1	protein_coding					3611		chr10	TogoVar
SPRN_chr10_133415666_133429625	133429066	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02615.hp1 others(3): Show HG02257.hp2 HG02451.hp2 HG02615.hp1 HG02922.hp2 HG03209.hp1 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0014 a0002c0003t0003g0014	6	474	0.0127	-12	c.-46 others(23): Show c.-4622_-4611delTTTTTTTTTTTT		SPRN	ENSG00000203772.8	transcript	ENST00000685335.1	protein_coding					4442		chr10	TogoVar
SPRR2A_chr1_153051120_153062512	153052395	GACACACA others(5): Show GACACACACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA19085.hp2 NA18994.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	442	0.0045	-12	c.41 others(23): Show c.4110_*4121delGTGTGTGTGTGT		SPRR2A	ENSG00000241794.2	transcript	ENST00000392653.3	protein_coding					3724		chr1	TogoVar
SPRR2D_chr1_153034732_153046120	153043245	TCACACAC others(5): Show TCACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03225.hp2 HG03041.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	453	0.0044	-12	c.-21 others(23): Show c.-2199_-2188delTGTGTGTGTGTG		SPRR2D	ENSG00000163216.7	transcript	ENST00000360379.4	protein_coding					2126		chr1	TogoVar
SPRR2D_chr1_153034732_153046120	153043273	ACACACAC others(5): Show ACACACACACACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01123.hp2 HG01099.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	453	0.0044	-12	c.-22 others(23): Show c.-2227_-2216delGGTGTGTGTGTG		SPRR2D	ENSG00000163216.7	transcript	ENST00000360379.4	protein_coding					2154		chr1	TogoVar
SPRR2G_chr1_153144582_153155890	153148757	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02723.hp1 others(11): Show HG02257.hp2 HG02451.hp1 HG02723.hp1 HG02809.hp1 HG02970.hp2 HG02976.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp2 NA18522.hp2 NA19030.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0001c0001t0003 a0002c0002t0003	a0001c0001t0003g0008 a0002c0002t0003g0004 a0002c0002t0003g0012 a0001c0001t0003g0008 a0002c0002t0003g0004 a0002c0002t0003g0012	14	424	0.0330	-12	c.11 others(23): Show c.1120_*1131delAAAAAAAAAAAA		SPRR2G	ENSG00000159516.9	transcript	ENST00000368748.5	protein_coding					824		chr1	TogoVar
SPRR5_chr1_152942206_152954255	152944632	TGTGTGTG others(5): Show TGTGTGTGTGTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02258.hp2 others(8): Show HG02055.hp2 HG02257.hp1 HG02258.hp2 HG02630.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0003c0003t0001g0001 a0001c0001t0001g0001 a0001c0001t0001g0003 a0003c0003t0001g0001	11	436	0.0252	-12	c.-26 others(23): Show c.-2634_-2623delGTGTGTGTGTGC		SPRR5	ENSG00000283227.2	transcript	ENST00000636302.2	protein_coding					2573		chr1	TogoVar
SPRTN_chr1_231333293_231360023	231359054	TTATATAT others(5): Show TTATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03453.hp2 NA18963.hp2 others(3): Show HG03041.hp1 HG03453.hp2 NA18963.hp2 NA19057.hp2 NA19077.hp2 NA19089.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0002g0124 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0002g0124 a0001c0001t0003g0095 a0003c0003t0001g0003	6	352	0.0171	-12	c.56 others(23): Show c.5694_*5705delTATATATATATA		SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding					4032		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155638293	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 NA19011.hp2 HG01069.hp1 HG01071.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0108 a0001c0001t0018 a0001c0001t0108	a0001c0001t0018g0033 a0001c0001t0018g0034 a0001c0001t0108g0064 a0001c0001t0018g0033 a0001c0001t0018g0034 a0001c0001t0108g0064	3	231	0.0130	-12	c.-28 others(33): Show c.-282+25711_-282+25722delATATATATATAT		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155654686	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19084.hp1 HG02965.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0005 a0001c0001t0015	a0001c0001t0005g0205 a0001c0001t0015g0096 a0001c0001t0005g0205 a0001c0001t0015g0096	2	231	0.0087	-12	c.-28 others(33): Show c.-282+42076_-282+42087delGTGTGTGTGTGT		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY4_chr5_142305430_142330021	142327420	TTCATTCA others(5): Show TTCATTCATTCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	378	0.0027	-12	c.-26 others(23): Show c.-2636_-2625delGTGAATGAATGA		SPRY4	ENSG00000187678.10	transcript	ENST00000434127.3	protein_coding					2400		chr5	TogoVar
SPRYD4_chr12_56463578_56484708	56464855	TTTTTTTG others(5): Show TTTTTTTGTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18973.hp1 NA18955.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0001 a0001c0001t0024g0001	2	370	0.0054	-12	c.-37 others(23): Show c.-3736_-3725delTTTTTTGTTTTG		SPRYD4	ENSG00000176422.14	transcript	ENST00000338146.7	protein_coding					3722		chr12	TogoVar
SPRYD4_chr12_56463578_56484708	56474933	ACATCAGC others(5): Show ACATCAGCCCTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0001 a0001c0001t0049g0001	1	370	0.0027	-12	c.53 others(23): Show c.5359_*5370delTCAGCCCTTTCA		SPRYD4	ENSG00000176422.14	transcript	ENST00000338146.7	protein_coding	2/2				5359	INFO_REALIGN_3_PRIME	chr12	TogoVar
SPRYD4_chr12_56463578_56484708	56481199	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0005 a0001c0001t0082g0005	1	370	0.0027	-12	c.11 others(25): Show c.11623_*11634delTTTTTTTTTTTT		SPRYD4	ENSG00000176422.14	transcript	ENST00000338146.7	protein_coding					1492		chr12	TogoVar
SPRYD7_chr13_49907702_49941340	49924994	AAATAATA others(5): Show AAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	380	0.0026	-12	c.390 others(29): Show c.390+2913_390+2924delATTATTATTATT		SPRYD7	ENSG00000123178.16	transcript	ENST00000361840.8	protein_coding	3/4						chr13	TogoVar
SPSB1_chr1_9287894_9374532	9295205	TGTGAGAG others(5): Show TGTGAGAGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02970.hp1 HG03540.hp2 HG02895.hp1 HG02970.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0005 a0001c0001t0012 a0001c0002t0005	a0001c0001t0012g0017 a0001c0002t0005g0012 a0001c0002t0005g0016 a0001c0001t0012g0017 a0001c0002t0005g0012 a0001c0002t0005g0016	3	370	0.0081	-12	c.-15 others(31): Show c.-150+2138_-150+2149delAGAGTGTGAGTG		SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB1_chr1_9287894_9374532	9298374	ATGAATGA others(5): Show ATGAATGAATGAG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG01069.hp1 others(39): Show HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01192.hp2 HG01255.hp1 HG01928.hp1 HG02027.hp1 HG02040.hp2 HG02129.hp2 HG02165.hp2 HG02451.hp1 HG02559.hp2 HG02735.hp1 HG03710.hp1 HG04184.hp1 HG04228.hp2 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18963.hp1 NA18974.hp1 NA18988.hp1 NA18990.hp2 NA19009.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19067.hp2 NA19074.hp2 NA19081.hp1 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0038 a0001c0002t0001 a0001c0002t0007 a0001c0002t0008 a0001c0002t0019 a0001c0003t0002 a0001c0003t0003 a0001c0003t0007 a0001c0003t0018 a0001c0004t0003 a0002c0007t0005	a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0091 others(39): Show a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0091 a0001c0001t0001g0107 a0001c0001t0001g0131 a0001c0001t0001g0188 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0134 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0006g0064 a0001c0001t0006g0066 a0001c0001t0006g0122 a0001c0001t0006g0123 a0001c0001t0006g0127 a0001c0001t0006g0128 a0001c0001t0038g0199 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0063 a0001c0002t0001g0126 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0195 a0001c0002t0007g0124 a0001c0002t0008g0240 a0001c0002t0019g0096 a0001c0003t0002g0239 a0001c0003t0003g0050 a0001c0003t0003g0061 a0001c0003t0003g0065 a0001c0003t0003g0125 a0001c0003t0003g0192 a0001c0003t0003g0193 a0001c0003t0003g0194 a0001c0003t0007g0062 a0001c0003t0018g0129 a0001c0003t0018g0130 a0001c0004t0003g0099 a0002c0007t0005g0018	42	370	0.1135	-12	c.-15 others(31): Show c.-150+5315_-150+5326delGTGAATGAATGA		SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB1_chr1_9287894_9374532	9298430	ATGAATGA others(5): Show ATGAATGAATAAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp2 HG00741.hp1 others(29): Show HG00408.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01361.hp1 HG01496.hp1 HG01943.hp1 HG01975.hp2 HG02083.hp1 HG02293.hp2 HG02602.hp1 HG02615.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp2 HG02895.hp1 HG03139.hp1 HG03209.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG04115.hp1 HG04115.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0023 a0001c0001t0029 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0019 a0001c0003t0003 a0001c0003t0012 a0001c0003t0013 a0001c0003t0016 a0001c0003t0018	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 others(29): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0110 a0001c0001t0002g0243 a0001c0001t0003g0023 a0001c0001t0004g0244 a0001c0001t0005g0044 a0001c0001t0005g0360 a0001c0001t0006g0113 a0001c0001t0015g0034 a0001c0001t0023g0043 a0001c0001t0029g0039 a0001c0002t0001g0026 a0001c0002t0001g0114 a0001c0002t0002g0245 a0001c0002t0005g0016 a0001c0002t0007g0019 a0001c0002t0007g0032 a0001c0002t0007g0041 a0001c0002t0007g0189 a0001c0002t0019g0025 a0001c0003t0003g0020 a0001c0003t0012g0030 a0001c0003t0012g0038 a0001c0003t0013g0121 a0001c0003t0016g0120 a0001c0003t0018g0027	32	370	0.0865	-12	c.-15 others(31): Show c.-150+5381_-150+5392delAAGTGAATGAAT		SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB1_chr1_9287894_9374532	9309291	AGAGAGAG others(5): Show AGAGAGAGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp1 HG03516.hp1 HG02723.hp2 HG02896.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0001t0014 a0001c0003t0016 a0001c0001t0011 a0001c0001t0014 a0001c0003t0016	a0001c0001t0011g0226 a0001c0001t0014g0214 a0001c0003t0016g0103 a0001c0001t0011g0226 a0001c0001t0014g0214 a0001c0003t0016g0103	3	370	0.0081	-12	c.-15 others(33): Show c.-150+16222_-150+16233delAGAGAGAGAGTG		SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB1_chr1_9287894_9374532	9309293	AGAGAGAG others(5): Show AGAGAGAGAGTGT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0225 a0001c0001t0011g0225	1	370	0.0027	-12	c.-15 others(33): Show c.-150+16224_-150+16235delAGAGAGAGTGTG		SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB1_chr1_9287894_9374532	9348937	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 homoSapiens_chm13v2.hp1 HG01934.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0159 a0001c0001t0008g0349 a0001c0001t0001g0159 a0001c0001t0008g0349	2	370	0.0054	-12	c.-14 others(31): Show c.-149-6790_-149-6779delGTGTGTGTGTGT		SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB1_chr1_9287894_9374532	9356634	TGGTCCTG others(5): Show TGGTCCTGGCTGG	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0173 a0001c0002t0007g0173	1	370	0.0027	-12	c.694 others(25): Show c.694+51_694+62delGTCCTGGCTGGG		SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB4_chr3_141046347_141153611	141151325	CTTGTGTG others(5): Show CTTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG03491.hp1 others(15): Show HG00544.hp2 HG00558.hp2 HG03491.hp1 HG03927.hp2 HG04115.hp1 HG04228.hp2 NA18612.hp2 NA18950.hp1 NA18957.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18997.hp1 NA19010.hp1 NA19011.hp2 NA19065.hp2 NA19070.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0003t0004	a0001c0001t0002g0139 a0001c0001t0002g0179 a0001c0001t0002g0181 others(14): Show a0001c0001t0002g0139 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0187 a0001c0001t0004g0091 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0195 a0001c0002t0001g0034 a0001c0002t0001g0081 a0001c0002t0001g0109 a0001c0002t0001g0111 a0001c0002t0001g0123 a0001c0002t0001g0135 a0001c0002t0003g0005 a0001c0002t0005g0114 a0001c0003t0004g0022	18	254	0.0709	-12	c.40 others(23): Show c.4057_*4068delTTGTGTGTGTGT		SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding					2715		chr3	TogoVar
SPSB4_chr3_141046347_141153611	141151365	TGTGTGTG others(5): Show TGTGTGTGTGTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01884.hp2 others(11): Show HG01167.hp1 HG01169.hp1 HG01884.hp2 HG02615.hp2 HG02723.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG06807.hp2 NA18522.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0004 a0001c0001t0013 a0001c0001t0027 others(6): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0027 a0001c0001t0040 a0001c0001t0043 a0001c0001t0055 a0001c0002t0003 a0001c0002t0029 a0002c0004t0046	a0001c0001t0004g0038 a0001c0001t0004g0141 a0001c0001t0013g0006 others(10): Show a0001c0001t0004g0038 a0001c0001t0004g0141 a0001c0001t0013g0006 a0001c0001t0013g0149 a0001c0001t0013g0150 a0001c0001t0027g0235 a0001c0001t0040g0170 a0001c0001t0043g0234 a0001c0001t0055g0203 a0001c0002t0003g0047 a0001c0002t0029g0042 a0001c0002t0029g0043 a0002c0004t0046g0239	14	254	0.0551	-12	c.40 others(23): Show c.4097_*4108delGTGTGTGTGTGC		SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding					2755		chr3	TogoVar
SPSB4_chr3_141046347_141153611	141151367	TGTGTGTG others(5): Show TGTGTGTGTGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01496.hp2 HG02145.hp2 others(6): Show HG01433.hp1 HG01496.hp2 HG02145.hp2 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG03225.hp1 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0017 a0001c0001t0031 others(4): Show a0001c0001t0009 a0001c0001t0017 a0001c0001t0031 a0001c0001t0037 a0001c0001t0062 a0001c0002t0014 a0001c0002t0059	a0001c0001t0009g0147 a0001c0001t0009g0154 a0001c0001t0009g0200 others(6): Show a0001c0001t0009g0147 a0001c0001t0009g0154 a0001c0001t0009g0200 a0001c0001t0017g0169 a0001c0001t0031g0244 a0001c0001t0037g0153 a0001c0001t0062g0243 a0001c0002t0014g0058 a0001c0002t0059g0126	9	254	0.0354	-12	c.40 others(23): Show c.4099_*4110delGTGTGTGTGCGC		SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding					2757		chr3	TogoVar
SPTAN1_chr9_128547587_128638662	128562983	CATGTATG others(5): Show CATGTATGTGTAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	312	0.0032	-12	c.-3- others(27): Show c.-3-3752_-3-3741delGTATGTGTATAT		SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128570326	ATATATTT others(5): Show ATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA18964.hp1 NA19083.hp1 HG01515.hp1 NA18964.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0114 a0001c0001t0001g0165 a0001c0001t0001g0034 a0001c0001t0001g0114 a0001c0001t0001g0165	3	312	0.0096	-12	c.363 others(29): Show c.363+1431_363+1442delATATTTTTTTTT		SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	3/56					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128570328	ATATTTTT others(5): Show ATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18979.hp2 NA19000.hp2 others(1): Show NA18954.hp2 NA18979.hp2 NA19000.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0148 others(1): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0148 a0001c0001t0001g0155	4	312	0.0128	-12	c.363 others(29): Show c.363+1433_363+1444delATTTTTTTTTTT		SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	3/56					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128600974	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01496.hp2 HG02258.hp1 others(3): Show HG01099.hp2 HG01496.hp2 HG02258.hp1 HG02280.hp1 HG02965.hp2 NA18906.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0167 a0001c0008t0001g0168 a0001c0008t0001g0169 others(3): Show a0001c0008t0001g0167 a0001c0008t0001g0168 a0001c0008t0001g0169 a0001c0008t0001g0170 a0001c0008t0001g0171 a0001c0008t0001g0172	6	312	0.0192	-12	c.357 others(29): Show c.3579+875_3579+886delTTTTTTTTTTTT		SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	27/56					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128624086	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG02615.hp2 others(3): Show HG01884.hp1 HG02280.hp2 HG02615.hp2 HG02717.hp2 HG03098.hp1 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0210 a0001c0007t0001g0007 a0001c0007t0001g0008 others(3): Show a0001c0002t0001g0210 a0001c0007t0001g0007 a0001c0007t0001g0008 a0001c0007t0001g0009 a0001c0007t0001g0273 a0001c0007t0001g0274	6	312	0.0192	-12	c.583 others(29): Show c.5833-227_5833-216delAAAAAAAAAAAA		SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	45/56					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128634568	CGGGTCTC others(5): Show CGGGTCTCAGAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	312	0.0032	-12	c.12 others(23): Show c.1235_*1246delGGGTCTCAGAGT		SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding					907		chr9	TogoVar

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