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
RAF1_chr3_12578601_12669117	12638551	GTTTGATT others(48): Show GTTTGATTCACTACTATTGTTTGGCATTCCCTTCACAGTTGTTTTATATT ACAAAT	G G	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	262	0.0038	-55	c.-26 others(74): Show c.-26-19859_-26-19805delATTTGTAATATAAAACAACTGTGAAG GGAATGCCAAACAATAGTAGTGAATCAAA	RAF1	ENSG00000132155.14	transcript	ENST00000251849.9	protein_coding	1/16			chr3	TogoVar
RASA3_chr13_113972783_114137623	114007218	TCCCCTCC others(48): Show TCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCCCTCCTGCC CTGCCG	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0015 a0001c0005t0001g0015	1	67	0.0149	-55	c.174 others(72): Show c.1742+260_1742+314delCGGCAGGGCAGGAGGGGGGAGAAGGGTA AGGTGGCGTCCGGCAGGGCAGGAGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114007256	CCCCCTCC others(48): Show CCCCCTCCTGCCCTGCCGCCCCCCTCCTGCCCTGCCGGACACCACCTTAC CCTTCT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	67	0.0149	-55	c.174 others(72): Show c.1742+222_1742+276delAGAAGGGTAAGGTGGTGTCCGGCAGGGC AGGAGGGGGGCGGCAGGGCAGGAGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RASGRF1_chr15_78954906_79095780	79059337	TCCTTCCC others(48): Show TCCTTCCCTTCCTTTCCCTATCCTTCCCTTCCCAATCCTTCCCTTCCCTT CCCTTC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	314	0.0032	-55	c.384 others(70): Show c.384-911_384-857delGAAGGGAAGGGAAGGGAAGGATTGGGAAGG GAAGGATAGGGAAAGGAAGGGAAGG	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	2/26			chr15	TogoVar
RASGRF1_chr15_78954906_79095780	79085460	AGCCACTG others(48): Show AGCCACTGATGCTTTCACAACATCCCAGGGTTCTGTGTCTAAGGGCTGCT GCTTTT	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0121 a0001c0003t0001g0121	1	314	0.0032	-55	c.276 others(72): Show c.276+4708_276+4762delAAAAGCAGCAGCCCTTAGACACAGAACC CTGGGATGTTGTGAAAGCATCAGTGGC	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	1/26			chr15	TogoVar
RBM26_chr13_79313868_79411255	79373490	AATATGTA others(48): Show AATATGTATAAATATACTTATTTATATATATTACTATATATATTTATATA ATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp2 others(151): Show HG00099.hp1 HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG01981.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18948.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp2 NA18965.hp1 NA18969.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18991.hp2 NA18995.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19085.hp2 NA19086.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0005c0011	a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 others(12): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0012 a0001c0002t0018 a0001c0002t0019 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0026 a0001c0003t0012 a0001c0003t0014 a0001c0004t0003 a0001c0010t0003 a0005c0011t0001	a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 others(143): Show a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0174 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0205 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0262 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0311 a0001c0002t0003g0001 a0001c0002t0003g0173 a0001c0002t0003g0184 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0002t0003g0191 a0001c0002t0003g0192 a0001c0002t0003g0196 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0204 a0001c0002t0003g0206 a0001c0002t0003g0207 a0001c0002t0003g0208 a0001c0002t0003g0211 a0001c0002t0003g0219 a0001c0002t0003g0222 a0001c0002t0003g0223 a0001c0002t0003g0238 a0001c0002t0003g0247 a0001c0002t0003g0251 a0001c0002t0003g0263 a0001c0002t0003g0269 a0001c0002t0003g0271 a0001c0002t0003g0292 a0001c0002t0003g0295 a0001c0002t0003g0297 a0001c0002t0003g0298 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0305 a0001c0002t0003g0309 a0001c0002t0003g0310 a0001c0002t0008g0013 a0001c0002t0008g0186 a0001c0002t0008g0203 a0001c0002t0008g0293 a0001c0002t0008g0294 a0001c0002t0008g0296 a0001c0002t0008g0304 a0001c0002t0008g0306 a0001c0002t0012g0179 a0001c0002t0018g0012 a0001c0002t0019g0175 a0001c0002t0019g0176 a0001c0002t0021g0246 a0001c0002t0022g0261 a0001c0002t0023g0185 a0001c0002t0026g0301 a0001c0003t0012g0177 a0001c0003t0012g0178 a0001c0003t0012g0180 a0001c0003t0012g0291 a0001c0003t0014g0281 a0001c0003t0014g0282 a0001c0003t0014g0283 a0001c0003t0014g0284 a0001c0004t0003g0264 a0001c0004t0003g0265 a0001c0004t0003g0270 a0001c0004t0003g0312 a0001c0004t0003g0313 a0001c0010t0003g0193 a0005c0011t0001g0229	154	328	0.4695	-55	c.328 others(72): Show c.328-1615_328-1561delATATATTATATAAATATATATAGTAATA TATATAAATAAGTATATTTATACATAT	RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	3/21			chr13	TogoVar
RHEB_chr7_151461012_151524895	151502430	AAACTTTA others(48): Show AAACTTTATAACAAAGTACCTCCAGATGGTCTGGTTGTTTACTGTGGAAC AACTGT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	364	0.0028	-55	c.53- others(72): Show c.53-11471_53-11417delACAGTTGTTCCACAGTAAACAACCAGAC CATCTGGAGGTACTTTGTTATAAAGTT	RHEB	ENSG00000106615.10	transcript	ENST00000262187.10	protein_coding	1/7			chr7	TogoVar
RHNO1_chr12_2872223_2894524	2885866	CGCCCGGC others(48): Show CGCCCGGCCTACTTTGACTTTTACTCTGTTAGGTTTTCCAGAATGCTGAC TCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(253): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0002t0001 a0001c0008t0001 a0002c0003t0001 a0003c0004t0001 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(159): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0303 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0060 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0302 a0001c0001t0003g0009 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0066 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0008g0154 a0001c0001t0008g0156 a0001c0001t0010g0175 a0001c0001t0011g0008 a0001c0001t0012g0075 a0001c0001t0013g0035 a0001c0001t0015g0146 a0001c0001t0017g0115 a0001c0001t0018g0001 a0001c0001t0019g0019 a0001c0001t0020g0083 a0001c0002t0001g0022 a0001c0008t0001g0079 a0002c0003t0001g0006 a0003c0004t0001g0143 a0004c0006t0001g0105	256	426	0.6009	-55	c.168 others(70): Show c.168+392_168+446delGGCCTACTTTGACTTTTACTCTGTTAGGTT TTCCAGAATGCTGACTCTTCTGCCC	RHNO1	ENSG00000171792.11	transcript	ENST00000489288.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNF212B_chr14_23232936_23278477	23276082	CCGTGCCC others(48): Show CCGTGCCCACTGGCACTGTAAAAAAAAGGATTTAAGGATAGCCAGCTGCT CTTTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	368	0.0027	-55	c.31 others(66): Show c.3192_*3246delCGTGCCCACTGGCACTGTAAAAAAAAGGATTTAA GGATAGCCAGCTGCTCTTTGG	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding		2606		chr14	TogoVar
RNFT2_chr12_116733315_116858631	116792236	GACGGGGT others(48): Show GACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAG GTGATC	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0023 a0001c0011t0023	a0001c0011t0023g0007 a0001c0011t0023g0007	1	268	0.0037	-55	c.882 others(74): Show c.882+12889_882+12943delACGGGGTTTCACCATGTTGGCCAGGC TGGTCTTGAACTCCTGACCTCAGGTGATC	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10			chr12	TogoVar
RPH3AL_chr17_207389_357807	295358	GCAGAGGG others(48): Show GCAGAGGGAATGCACATCAGTGTGGGAGGGACAGAGGAGCTGCAGAAATG GATGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(66): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG01070.hp1 HG01070.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03516.hp1 HG03540.hp2 HG03831.hp1 HG03831.hp2 HG04184.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18947.hp1 NA18963.hp1 NA18993.hp1 NA18999.hp2 NA19004.hp2 NA19005.hp1 NA19056.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0017	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0002c0013 a0004c0018 a0006c0021 a0007c0005 a0008c0011 a0009c0008 a0010c0010 a0011c0014 a0017c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0032 a0001c0001t0037 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0003t0030 a0002c0013t0001 a0004c0018t0003 a0006c0021t0007 a0007c0005t0011 a0008c0011t0001 a0009c0008t0007 a0010c0010t0005 a0011c0014t0023 a0017c0007t0014	a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0045 others(66): Show a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0002g0031 a0001c0001t0002g0061 a0001c0001t0002g0069 a0001c0001t0002g0079 a0001c0001t0002g0116 a0001c0001t0003g0084 a0001c0001t0003g0101 a0001c0001t0004g0008 a0001c0001t0004g0021 a0001c0001t0004g0092 a0001c0001t0004g0096 a0001c0001t0004g0121 a0001c0001t0005g0017 a0001c0001t0005g0100 a0001c0001t0005g0132 a0001c0001t0006g0095 a0001c0001t0006g0120 a0001c0001t0007g0032 a0001c0001t0008g0130 a0001c0001t0009g0066 a0001c0001t0009g0094 a0001c0001t0010g0015 a0001c0001t0012g0005 a0001c0001t0013g0055 a0001c0001t0013g0107 a0001c0001t0013g0108 a0001c0001t0014g0025 a0001c0001t0015g0036 a0001c0001t0016g0082 a0001c0001t0016g0093 a0001c0001t0017g0070 a0001c0001t0017g0099 a0001c0001t0020g0127 a0001c0001t0022g0071 a0001c0001t0024g0083 a0001c0001t0025g0076 a0001c0001t0027g0118 a0001c0001t0032g0004 a0001c0001t0037g0058 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0073 a0001c0002t0003g0033 a0001c0002t0003g0090 a0001c0002t0009g0126 a0001c0003t0030g0122 a0002c0013t0001g0016 a0004c0018t0003g0037 a0006c0021t0007g0112 a0007c0005t0011g0007 a0008c0011t0001g0054 a0009c0008t0007g0117 a0010c0010t0005g0035 a0011c0014t0023g0125 a0017c0007t0014g0023	69	133	0.5188	-55	c.352 others(74): Show c.352-13559_352-13505delTCCATCCATTTCTGCAGCTCCTCTGT CCCTCCCACACTGATGTGCATTCCCTCTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	296196	GGTGTGGG others(48): Show GGTGTGGGAGGGACAGAGGAGCTGCAGAAATGGATGGACAGAGGGAATGC ACATCA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02559.hp2 HG02622.hp1 others(4): Show HG00544.hp1 HG02559.hp2 HG02622.hp1 HG02886.hp2 HG03453.hp1 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 a0001c0001t0031 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001	a0001c0001t0001g0043 a0001c0001t0008g0113 a0001c0001t0017g0070 others(4): Show a0001c0001t0001g0043 a0001c0001t0008g0113 a0001c0001t0017g0070 a0001c0001t0031g0067 a0001c0003t0001g0068 a0001c0003t0002g0059 a0001c0004t0001g0048	7	133	0.0526	-55	c.352 others(74): Show c.352-14397_352-14343delTGATGTGCATTCCCTCTGTCCATCCA TTTCTGCAGCTCCTCTGTCCCTCCCACAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPL3L_chr16_1938974_1959689	1956538	GAGTCTCA others(48): Show GAGTCTCATTCTGTTGCCCAGGCTGGAGTTCAGTGGCACAATCTCGGCTC ACTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0379 a0001c0001t0003g0379	1	450	0.0022	-55	c.-19 others(66): Show c.-1962_-1908delTACAGTGAGCCGAGATTGTGCCACTGAACTCCAG CCTGGGCAACAGAATGAGACT	RPL3L	ENSG00000140986.8	transcript	ENST00000268661.8	protein_coding		1850		chr16	TogoVar
RPS6KA2_chr6_166404364_166632251	166537549	AATCCAGT others(48): Show AATCCAGTTCATGCGGACTGTAGGATTATCCAGAACACCGATGTACTATT CATTCC	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	244	0.0041	-55	c.216 others(72): Show c.216+1064_216+1118delGGAATGAATAGTACATCGGTGTTCTGGA TAATCCTACAGTCCGCATGAACTGGAT	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	2/20			chr6	TogoVar
RPTOR_chr17_80539838_80971368	80665451	TCCTTTCC others(48): Show TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCATG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0062 a0002c0062	a0002c0062t0018 a0002c0062t0018	a0002c0062t0018g0191 a0002c0062t0018g0191	1	196	0.0051	-55	c.348 others(74): Show c.348+21642_348+21696delCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCATG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80748234	AGGGGCTG others(48): Show AGGGGCTGCGGTGTGTGTTTGGAGGCCGTGGCGGGAGGGCCTGTTGGGTG GATGGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG00735.hp2 others(35): Show HG00323.hp2 HG00621.hp1 HG00735.hp2 HG01099.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01978.hp1 HG02165.hp1 HG02258.hp2 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03491.hp1 HG03540.hp1 HG03688.hp2 HG06807.hp1 NA18747.hp1 NA19030.hp2 NA19043.hp1 NA19068.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(30): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0020 a0001c0022 a0001c0023 a0001c0029 a0001c0031 a0001c0032 a0001c0034 a0001c0036 a0001c0053 a0001c0054 a0001c0056 a0001c0071 a0001c0077 a0001c0083 a0001c0086 a0001c0087 a0001c0090 a0001c0091 a0001c0093	a0001c0001t0019 a0001c0003t0001 a0001c0004t0001 others(30): Show a0001c0001t0019 a0001c0003t0001 a0001c0004t0001 a0001c0005t0026 a0001c0006t0076 a0001c0007t0069 a0001c0009t0078 a0001c0010t0094 a0001c0011t0062 a0001c0012t0003 a0001c0013t0013 a0001c0014t0002 a0001c0015t0008 a0001c0016t0029 a0001c0020t0064 a0001c0022t0001 a0001c0023t0008 a0001c0029t0025 a0001c0031t0027 a0001c0032t0097 a0001c0034t0004 a0001c0036t0004 a0001c0053t0007 a0001c0054t0034 a0001c0056t0001 a0001c0071t0088 a0001c0077t0086 a0001c0083t0028 a0001c0086t0004 a0001c0087t0002 a0001c0090t0001 a0001c0091t0016 a0001c0093t0070	a0001c0001t0019g0057 a0001c0003t0001g0154 a0001c0004t0001g0152 others(35): Show a0001c0001t0019g0057 a0001c0003t0001g0154 a0001c0004t0001g0152 a0001c0005t0026g0151 a0001c0006t0076g0192 a0001c0007t0069g0128 a0001c0009t0078g0021 a0001c0010t0094g0054 a0001c0011t0062g0114 a0001c0012t0003g0121 a0001c0012t0003g0123 a0001c0012t0003g0189 a0001c0013t0013g0062 a0001c0014t0002g0055 a0001c0015t0008g0139 a0001c0015t0008g0146 a0001c0016t0029g0193 a0001c0020t0064g0190 a0001c0022t0001g0132 a0001c0023t0008g0134 a0001c0029t0025g0153 a0001c0031t0027g0173 a0001c0032t0097g0053 a0001c0034t0004g0133 a0001c0034t0004g0187 a0001c0036t0004g0167 a0001c0036t0004g0168 a0001c0053t0007g0122 a0001c0054t0034g0056 a0001c0056t0001g0107 a0001c0071t0088g0035 a0001c0077t0086g0195 a0001c0083t0028g0158 a0001c0086t0004g0172 a0001c0087t0002g0051 a0001c0090t0001g0161 a0001c0091t0016g0166 a0001c0093t0070g0155	38	196	0.1939	-55	c.655 others(72): Show c.655-5588_655-5534delGGCCGTGGCGGGAGGGCCTGTTGGGTGG ATGGGGGGGCTGCGGTGTGTGTTTGGA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80748426	GTGGCGGG others(48): Show GTGGCGGGAGGGCCTGTTGGGTGGATGGGGGGGCTGCGGTGTGTGTTTGG AAGCCT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0065 a0001c0021t0065	a0001c0021t0065g0112 a0001c0021t0065g0112	1	196	0.0051	-55	c.655 others(72): Show c.655-5564_655-5510delGTGGATGGGGGGGCTGCGGTGTGTGTTT GGAAGCCTTGGCGGGAGGGCCTGTTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80748869	ACCTGTTG others(48): Show ACCTGTTGGGTGGATGGAGGGGCTGCGGTGTGTGTTTGGAGGCCGTGGCG GGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0084 a0001c0007t0084	a0001c0007t0084g0007 a0001c0007t0084g0007	1	196	0.0051	-55	c.655 others(72): Show c.655-5031_655-4977delGCCTGTTGGGTGGATGGAGGGGCTGCGG TGTGTGTTTGGAGGCCGTGGCGGGAGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRBP1_chr20_17608679_17687242	17644030	CCCCTCAG others(48): Show CCCCTCAGCTGAGCCCACCTTGGGAGGACAAAGGAGAGGGCTGGTTTCCA TAGCAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG01081.hp1 others(24): Show HG00408.hp1 HG00609.hp1 HG01081.hp1 HG01192.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01928.hp1 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG02056.hp1 HG02071.hp1 HG02148.hp1 HG02273.hp1 HG02300.hp2 NA18953.hp1 NA18973.hp2 NA18977.hp2 NA18984.hp1 NA18986.hp2 NA18994.hp1 NA19010.hp1 NA19064.hp2 NA19080.hp1 NA19088.hp2 NA20300.hp1	a0001 a0003 a0027 others(2): Show a0001 a0003 a0027 a0037 a0068	a0001c0002 a0003c0003 a0003c0026 others(5): Show a0001c0002 a0003c0003 a0003c0026 a0003c0127 a0003c0128 a0027c0039 a0037c0126 a0068c0129	a0001c0002t0003 a0003c0003t0003 a0003c0003t0010 others(6): Show a0001c0002t0003 a0003c0003t0003 a0003c0003t0010 a0003c0026t0002 a0003c0127t0003 a0003c0128t0001 a0027c0039t0001 a0037c0126t0003 a0068c0129t0002	a0001c0002t0003g0109 a0001c0002t0003g0110 a0003c0003t0003g0001 others(20): Show a0001c0002t0003g0109 a0001c0002t0003g0110 a0003c0003t0003g0001 a0003c0003t0003g0029 a0003c0003t0003g0031 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0037 a0003c0003t0003g0043 a0003c0003t0003g0283 a0003c0003t0010g0027 a0003c0026t0002g0039 a0003c0026t0002g0041 a0003c0026t0002g0045 a0003c0127t0003g0030 a0003c0128t0001g0038 a0027c0039t0001g0040 a0027c0039t0001g0044 a0037c0126t0003g0028 a0068c0129t0002g0042	27	350	0.0771	-55	c.191 others(72): Show c.1913-958_1913-904delTTGCTATGGAAACCAGCCCTCTCCTTTG TCCTCCCAAGGTGGGCTCAGCTGAGGG	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/24			chr20	TogoVar
RTL4_chrX_112078016_112462514	112160837	GAGAGTTA others(48): Show GAGAGTTAGGCTAGCAATGGATTGCAAAGGGTCTTGAATGCCATGTTAAG GAATTT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0030 a0001c0002t0004g0030	1	134	0.0075	-55	c.-44 others(76): Show c.-445+29739_-445+29793delAGTTAGGCTAGCAATGGATTGCAA AGGGTCTTGAATGCCATGTTAAGGAATTTAG	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
SACM1L_chr3_45684396_45750409	45750230	GGAGGGAC others(48): Show GGAGGGACATAGACACAGCAGGTGTACCATGAACACCCTATCCAAGGCAG CTAGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0014 a0002c0001t0014	a0002c0001t0014g0048 a0002c0001t0014g0048	1	354	0.0028	-55	c.65 others(66): Show c.6562_*6616delGAGGGACATAGACACAGCAGGTGTACCATGAACA CCCTATCCAAGGCAGCTAGTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		4822		chr3	TogoVar
SAMD11_chr1_918923_949574	934540	GGGGGAGG others(48): Show GGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAG GTGGGC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0033 a0003c0033	a0003c0033t0002 a0003c0033t0002	a0003c0033t0002g0299 a0003c0033t0002g0299	1	434	0.0023	-55	c.843 others(72): Show c.843-1227_843-1173delAGGCTGCTCCGTTACAGGTGGGCGGGGG AGGCTGCTCCGTTACAGGTGGGCGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARDH_chr9_133658560_133743352	133668471	CCCCTCGC others(48): Show CCCCTCGCCCTCCCTCTCCCCTCACCCTCACCCTCCCTCTCCCTCACCCT CCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02135.hp2 HG03239.hp1 others(5): Show HG01943.hp2 HG02135.hp2 HG03239.hp1 HG03710.hp1 NA18945.hp1 NA19003.hp1 NA19009.hp2 NA19077.hp1	a0002 a0002	a0002c0003 a0002c0015 a0002c0018 a0002c0003 a0002c0015 a0002c0018	a0002c0003t0002 a0002c0015t0001 a0002c0018t0003 a0002c0003t0002 a0002c0015t0001 a0002c0018t0003	a0002c0003t0002g0011 a0002c0003t0002g0012 a0002c0003t0002g0015 others(5): Show a0002c0003t0002g0011 a0002c0003t0002g0012 a0002c0003t0002g0015 a0002c0003t0002g0033 a0002c0003t0002g0035 a0002c0015t0001g0120 a0002c0018t0003g0124 a0002c0018t0003g0127	8	262	0.0305	-55	c.249 others(74): Show c.2496-1656_2496-1602delAGAGGGAGGGTGAGGGAGAGGGAGGG TGAGGGTGAGGGGAGAGGGAGGGCGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCGB1C2_chr17_132569_144067	141429	TTGGTGAG others(48): Show TTGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAG GGGACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0007 a0003c0008t0001g0007	1	402	0.0025	-55	c.24 others(66): Show c.2488_*2542delTGGTGAGGGGAGCATGGTGAGGGGAACATGGGTG GGGAGCCTTGGTGAGGGGACC	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2363		chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1288664	CCCGTGTC others(48): Show CCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTG CTCCGT	C C	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0044 a0044	a0044c0025 a0044c0025	a0044c0025t0005 a0044c0025t0005	a0044c0025t0005g0002 a0044c0025t0005g0002	1	290	0.0035	-55	c.166 others(72): Show c.1662+630_1662+684delGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCCCGAGTCTCTGCTCCGTCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289262	CCCCCGTG others(48): Show CCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTG CCCCGT	C C	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0044 a0044	a0044c0025 a0044c0025	a0044c0025t0005 a0044c0025t0005	a0044c0025t0005g0002 a0044c0025t0005g0002	1	290	0.0035	-55	c.166 others(73): Show c.1663-1005_1663-951delCGTGTCCCTGCTCCGTCCCGTGTCCCT GCCCCGTCCCGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCYL3_chr1_169844631_169898896	169850990	TTTTTTTT others(48): Show TTTTTTTTTTTTTTTTTATTTGGGCAGCCTCCCAAGCCAGGGTAAGCTCA GGGCCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0100 a0001c0003t0100	a0001c0003t0100g0232 a0001c0003t0100g0232	1	418	0.0024	-55	c.26 others(66): Show c.2668_*2722delGGGCCCTGAGCTTACCCTGGCTTGGGAGGCTGCC CAAATAAAAAAAAAAAAAAAA	SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13	2668		chr1	TogoVar
SDK2_chr17_73329384_73649445	73539923	GGCCACGG others(48): Show GGCCACGGTACCCAGGATGGGCAGCCCCCACCAGAGACGGGGTCATGCAG CTGTGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00558.hp2 others(43): Show HG00099.hp1 HG00438.hp2 HG00558.hp2 HG00642.hp2 HG01081.hp1 HG01167.hp2 HG01192.hp1 HG01261.hp2 HG01891.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02486.hp2 HG02559.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03942.hp1 NA18612.hp1 NA18948.hp1 NA18970.hp1 NA18990.hp1 NA19030.hp1 NA19043.hp1 NA19080.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0016	a0001c0001 a0001c0002 a0001c0003 others(33): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0013 a0001c0017 a0001c0018 a0001c0026 a0001c0038 a0001c0040 a0001c0042 a0001c0052 a0001c0068 a0001c0072 a0002c0020 a0002c0058 a0002c0106 a0003c0008 a0003c0016 a0003c0022 a0003c0088 a0004c0048 a0005c0012 a0006c0055 a0007c0019 a0007c0049 a0008c0069 a0008c0090 a0009c0021 a0011c0063 a0011c0109 a0016c0097	a0001c0001t0025 a0001c0002t0004 a0001c0003t0002 others(41): Show a0001c0001t0025 a0001c0002t0004 a0001c0003t0002 a0001c0003t0061 a0001c0003t0090 a0001c0004t0010 a0001c0005t0001 a0001c0005t0024 a0001c0005t0050 a0001c0006t0003 a0001c0007t0059 a0001c0007t0085 a0001c0010t0014 a0001c0013t0100 a0001c0017t0008 a0001c0018t0004 a0001c0026t0022 a0001c0026t0035 a0001c0038t0047 a0001c0040t0099 a0001c0042t0033 a0001c0052t0022 a0001c0068t0007 a0001c0072t0009 a0002c0020t0089 a0002c0058t0063 a0002c0106t0021 a0003c0008t0002 a0003c0008t0087 a0003c0016t0084 a0003c0022t0003 a0003c0022t0004 a0003c0088t0012 a0004c0048t0002 a0005c0012t0081 a0006c0055t0002 a0007c0019t0027 a0007c0049t0027 a0008c0069t0102 a0008c0090t0023 a0009c0021t0004 a0011c0063t0025 a0011c0109t0040 a0016c0097t0002	a0001c0001t0025g0085 a0001c0002t0004g0038 a0001c0003t0002g0075 others(43): Show a0001c0001t0025g0085 a0001c0002t0004g0038 a0001c0003t0002g0075 a0001c0003t0061g0041 a0001c0003t0090g0132 a0001c0004t0010g0021 a0001c0004t0010g0087 a0001c0005t0001g0050 a0001c0005t0024g0191 a0001c0005t0050g0032 a0001c0006t0003g0014 a0001c0007t0059g0029 a0001c0007t0085g0142 a0001c0010t0014g0201 a0001c0013t0100g0010 a0001c0017t0008g0156 a0001c0018t0004g0150 a0001c0026t0022g0115 a0001c0026t0035g0070 a0001c0038t0047g0146 a0001c0040t0099g0125 a0001c0042t0033g0003 a0001c0052t0022g0039 a0001c0068t0007g0117 a0001c0072t0009g0074 a0002c0020t0089g0106 a0002c0058t0063g0144 a0002c0106t0021g0148 a0003c0008t0002g0088 a0003c0008t0002g0199 a0003c0008t0087g0008 a0003c0016t0084g0149 a0003c0022t0003g0167 a0003c0022t0004g0086 a0003c0088t0012g0174 a0004c0048t0002g0169 a0005c0012t0081g0178 a0006c0055t0002g0162 a0007c0019t0027g0004 a0007c0049t0027g0172 a0008c0069t0102g0116 a0008c0090t0023g0071 a0009c0021t0004g0194 a0011c0063t0025g0166 a0011c0109t0040g0183 a0016c0097t0002g0077	46	204	0.2255	-55	c.65- others(72): Show c.65-32381_65-32327delTCACAGCTGCATGACCCCGTCTCTGGTG GGGGCTGCCCATCCTGGGTACCGTGGC	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SEPTIN12_chr16_4772606_4793345	4793214	ATGCCACC others(48): Show ATGCCACCACCCTCTAGAAGCTGGACAAGGCAAAAGATGGACTCTGCCCT AGAACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	-55	c.-50 others(66): Show c.-5012_-4958delGGTTCTAGGGCAGAGTCCATCTTTTGCCTTGTCC AGCTTCTAGAGGGTGGTGGCA	SEPTIN12	ENSG00000140623.14	transcript	ENST00000268231.13	protein_coding		4870		chr16	TogoVar
SEPTIN7_chr7_35796057_35912110	35838308	CCCTCCCT others(48): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03540.hp2 HG02055.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0266 a0001c0001t0019g0311 a0001c0001t0019g0266 a0001c0001t0019g0311	2	346	0.0058	-55	c.169 others(72): Show c.169+5436_169+5490delCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCTCCCTCCCTCCCTCCCTCCCTCCCT	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERPINB8_chr18_63965081_63994374	63992443	AGTAATAC others(48): Show AGTAATACCATCGCTCTCATTTCTGAGATTAGTAGCTTGTGCCTTTTTCT CTTTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0035 a0008c0011t0001g0035	1	466	0.0022	-55	c.51 others(66): Show c.5166_*5220delGTAATACCATCGCTCTCATTTCTGAGATTAGTAG CTTGTGCCTTTTTCTCTTTTC	SERPINB8	ENSG00000166401.15	transcript	ENST00000397985.7	protein_coding		3070		chr18	TogoVar
SERPINE1_chr7_101122104_101144247	101143515	GAGAAAGA others(48): Show GAGAAAGAAAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00642.hp2 others(15): Show HG00140.hp1 HG00639.hp1 HG00642.hp2 HG01099.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01257.hp1 HG01358.hp2 HG01516.hp1 HG02145.hp2 HG03225.hp2 HG03490.hp2 HG03492.hp1 HG03669.hp1 HG03834.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0001t0005 a0001c0006t0017 a0001c0001t0003 a0001c0001t0005 a0001c0006t0017	a0001c0001t0003g0019 a0001c0001t0003g0063 a0001c0001t0005g0019 others(12): Show a0001c0001t0003g0019 a0001c0001t0003g0063 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0106 a0001c0001t0005g0108 a0001c0001t0005g0109 a0001c0001t0005g0304 a0001c0006t0017g0022 a0001c0006t0017g0107	18	436	0.0413	-55	c.60 others(66): Show c.6074_*6128delAGAAAGAAAGAGAGAAAGAAAGAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding		4269		chr7	TogoVar
SERTAD1_chr19_40416589_40430992	40430074	CACTTTGG others(48): Show CACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTTGGCC TCCCAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0001	1	368	0.0027	-55	c.-42 others(66): Show c.-4263_-4209delTTGGGAGGCCAAGGTGGCTCATGCCTGTAATCCC AGCACTTTGGGAGGCCAAAGT	SERTAD1	ENSG00000197019.5	transcript	ENST00000357949.5	protein_coding		4083		chr19	TogoVar
SH3TC1_chr4_8194290_8246103	8233955	CATCCATT others(48): Show CATCCATTCACCTGTTTGTCCATCCATCCATCCATCATCCATCCATCCTT CCATTT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0182 a0002c0005t0002g0182	1	374	0.0027	-55	c.328 others(72): Show c.3282+449_3282+503delTCACCTGTTTGTCCATCCATCCATCCAT CATCCATCCATCCTTCCATTTATCCAT	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHANK1_chr19_50654255_50724802	50707876	TTTTTCTT others(48): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18998.hp2 NA19056.hp1 HG03471.hp1 NA18998.hp2 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0013 a0002c0001 a0001c0002 a0001c0013 a0002c0001	a0001c0002t0019 a0001c0013t0086 a0002c0001t0002 a0001c0002t0019 a0001c0013t0086 a0002c0001t0002	a0001c0002t0019g0272 a0001c0013t0086g0242 a0002c0001t0002g0271 a0001c0002t0019g0272 a0001c0013t0086g0242 a0002c0001t0002g0271	3	316	0.0095	-55	c.107 others(74): Show c.1078-3417_1078-3363delGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	8/23			chr19	TogoVar
SHC2_chr19_411589_466033	456911	CACTGCGT others(48): Show CACTGCGTGGGGCCTTTGCACCTGCTGTGCCCCGCCCCTAGAACTCTGTC TGTAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02622.hp2 others(5): Show HG01891.hp1 HG02145.hp2 HG02622.hp2 HG02818.hp2 HG02970.hp2 HG02976.hp2 HG03195.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0001c0013	a0001c0001t0005 a0001c0001t0007 a0001c0005t0006 others(3): Show a0001c0001t0005 a0001c0001t0007 a0001c0005t0006 a0001c0005t0015 a0001c0007t0003 a0001c0013t0005	a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0031 others(5): Show a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0031 a0001c0001t0007g0041 a0001c0005t0006g0009 a0001c0005t0015g0008 a0001c0007t0003g0030 a0001c0013t0005g0007	8	212	0.0377	-55	c.468 others(72): Show c.468+3563_468+3617delTTTACAGACAGAGTTCTAGGGGCGGGGC ACAGCAGGTGCAAAGGCCCCACGCAGT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHD_chr19_4274266_4295722	4279763	CCCCCAGC others(48): Show CCCCCAGCGCGCGGGGTTCGGGGCCCTGCGAGGTCCCCCCTTCCCCCGCG GTGCTT	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0023 a0002c0003t0023	a0002c0003t0023g0323 a0002c0003t0023g0323	1	462	0.0022	-55	c.-29 others(64): Show c.-297_-243delCAGCGCGCGGGGTTCGGGGCCCTGCGAGGTCCCCCC TTCCCCCGCGGTGCTTCCC	SHD	ENSG00000105251.11	transcript	ENST00000543264.7	protein_coding	1/6	243	INFO_REALIGN_3_PRIME	chr19	TogoVar
SHOX_chrX_625791_656584	643969	TCGGGAGA others(48): Show TCGGGAGAGCCTTGGTGACCTGGGGACCCGGGAGAGGCTTGGGGACCTGG TGTCCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00639.hp2 others(64): Show HG00423.hp1 HG00597.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01257.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02080.hp1 HG02135.hp1 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02630.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03453.hp1 HG03540.hp1 HG03834.hp2 HG04184.hp1 HG06807.hp2 NA18906.hp1 NA18941.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18991.hp1 NA18998.hp1 NA19003.hp1 NA19003.hp2 NA19011.hp2 NA19030.hp1 NA19054.hp2 NA19057.hp2 NA19064.hp1 NA19081.hp1 NA19081.hp2 NA19089.hp1 NA19090.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0004 a0001c0001 a0002c0002 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(57): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0001t0019 a0001c0001t0055 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0087 a0001c0001t0088 a0001c0001t0091 a0001c0001t0092 a0001c0001t0095 a0001c0001t0098 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0113 a0001c0001t0118 a0001c0001t0128 a0001c0001t0165 a0001c0001t0166 a0001c0001t0168 a0001c0001t0169 a0001c0001t0172 a0001c0001t0175 a0001c0001t0178 a0001c0001t0184 a0001c0001t0188 a0001c0001t0189 a0001c0001t0199 a0002c0002t0077 a0002c0002t0085 a0002c0002t0097 a0005c0004t0076	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0165 others(63): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0165 a0001c0001t0002g0142 a0001c0001t0002g0166 a0001c0001t0005g0054 a0001c0001t0005g0186 a0001c0001t0006g0010 a0001c0001t0006g0197 a0001c0001t0007g0070 a0001c0001t0007g0076 a0001c0001t0017g0023 a0001c0001t0019g0082 a0001c0001t0055g0026 a0001c0001t0059g0150 a0001c0001t0060g0185 a0001c0001t0061g0009 a0001c0001t0062g0044 a0001c0001t0063g0208 a0001c0001t0064g0170 a0001c0001t0065g0057 a0001c0001t0066g0173 a0001c0001t0067g0136 a0001c0001t0068g0039 a0001c0001t0069g0102 a0001c0001t0070g0034 a0001c0001t0071g0178 a0001c0001t0073g0201 a0001c0001t0074g0209 a0001c0001t0075g0141 a0001c0001t0078g0105 a0001c0001t0080g0176 a0001c0001t0081g0151 a0001c0001t0082g0007 a0001c0001t0083g0106 a0001c0001t0084g0048 a0001c0001t0087g0128 a0001c0001t0088g0175 a0001c0001t0091g0119 a0001c0001t0092g0078 a0001c0001t0095g0035 a0001c0001t0098g0206 a0001c0001t0100g0133 a0001c0001t0101g0196 a0001c0001t0102g0100 a0001c0001t0103g0095 a0001c0001t0104g0079 a0001c0001t0105g0129 a0001c0001t0113g0058 a0001c0001t0118g0009 a0001c0001t0128g0096 a0001c0001t0165g0019 a0001c0001t0166g0077 a0001c0001t0168g0174 a0001c0001t0169g0131 a0001c0001t0172g0064 a0001c0001t0175g0168 a0001c0001t0178g0159 a0001c0001t0184g0125 a0001c0001t0188g0122 a0001c0001t0189g0067 a0001c0001t0199g0017 a0002c0002t0077g0031 a0002c0002t0085g0045 a0002c0002t0097g0194 a0005c0004t0076g0012	67	220	0.3046	-55	c.634 others(70): Show c.634-413_634-359delCCTTGGTGACCTGGGGACCCGGGAGAGGCT TGGGGACCTGGTGTCCCCGGGAGAG	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	401878	GACCCCCG others(48): Show GACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCAC CCCGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	242	0.0041	-55	c.39 others(66): Show c.3963_*4017delTCCGGGGTGAGCGGGGCCGGGGTCAGTGGAGCCG GGGGTGAGCGGGGCCGGGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3837		chr11	TogoVar
SIGIRR_chr11_400716_419999	402365	CGGCTCCA others(48): Show CGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGA CCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02622.hp1 HG02486.hp2 HG02622.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0186 a0007c0010t0001g0053 a0001c0001t0001g0186 a0007c0010t0001g0053	2	242	0.0083	-55	c.34 others(66): Show c.3476_*3530delCGGGGGTCGGGGGTGAGCGGGGTCCGGGGTGAGC GGGGCCGGGGTCAGTGGAGCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3350		chr11	TogoVar
SLBP_chr4_1687731_1717319	1707225	CAAAAAAA others(48): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	376	0.0027	-55	c.177 others(72): Show c.177-3580_177-3526delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTT	SLBP	ENSG00000163950.13	transcript	ENST00000489418.6	protein_coding	2/7			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86842815	TTTCTTTC others(48): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp2 HG01069.hp2 others(26): Show HG00323.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp1 HG01496.hp1 HG01981.hp2 HG02080.hp2 HG02257.hp1 HG02257.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG02965.hp2 HG03139.hp2 HG03239.hp1 HG03453.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0003 a0001c0001 a0002c0002 a0004c0003	a0001c0001t0003 a0002c0002t0001 a0004c0003t0003 a0001c0001t0003 a0002c0002t0001 a0004c0003t0003	a0001c0001t0003g0007 a0001c0001t0003g0335 a0001c0001t0003g0336 others(23): Show a0001c0001t0003g0007 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0003g0339 a0001c0001t0003g0342 a0002c0002t0001g0003 a0002c0002t0001g0244 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0264 a0004c0003t0003g0006 a0004c0003t0003g0338	29	350	0.0829	-55	c.377 others(72): Show c.377+5869_377+5923delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC12A7_chr5_1045384_1117063	1080186	CGGAGCCA others(48): Show CGGAGCCACGCAGAGGCTCTACCCCCACGCCCTCCACCCGCGGCGCGGAG ACACCA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0106 a0002c0002t0002g0106	1	118	0.0085	-55	c.129 others(72): Show c.1298-745_1298-691delTGGTGTCTCCGCGCCGCGGGTGGAGGGC GTGGGGGTAGAGCCTCTGCGTGGCTCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	9/23			chr5	TogoVar
SLC17A6_chr11_22333381_22384503	22339130	TTATATAT others(48): Show TTATATATATATGTTATATATAGTTATATATATATGTTATATATATATGT TTTATA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03195.hp1 HG02896.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0022 a0001c0013t0005 a0001c0001t0022 a0001c0013t0005	a0001c0001t0022g0040 a0001c0013t0005g0053 a0001c0001t0022g0040 a0001c0013t0005g0053	2	450	0.0044	-55	c.86+ others(68): Show c.86+523_86+577delGTTATATATAGTTATATATATATGTTATATAT ATATGTTTTATATATATATATAT	SLC17A6	ENSG00000091664.9	transcript	ENST00000263160.4	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC17A9_chr20_62947709_62974585	62966030	ATGGTGTG others(48): Show ATGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTGGGTGGTTGGGGCTCGGG TTGGCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(244): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 others(5): Show a0001 a0002 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0003 a0001c0010 others(9): Show a0001c0001 a0001c0003 a0001c0010 a0001c0012 a0002c0004 a0002c0013 a0007c0017 a0008c0022 a0009c0011 a0010c0020 a0011c0019 a0012c0021	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(18): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0019 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0003t0001 a0001c0010t0001 a0001c0012t0001 a0002c0004t0001 a0002c0004t0003 a0002c0013t0003 a0007c0017t0001 a0008c0022t0030 a0009c0011t0001 a0010c0020t0001 a0011c0019t0001 a0012c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(108): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0007g0001 a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0011g0001 a0001c0001t0019g0005 a0001c0001t0028g0139 a0001c0001t0031g0128 a0001c0001t0032g0157 a0001c0001t0034g0001 a0001c0001t0035g0001 a0001c0003t0001g0018 a0001c0003t0001g0028 a0001c0003t0001g0190 a0001c0010t0001g0046 a0001c0012t0001g0006 a0002c0004t0001g0055 a0002c0004t0003g0004 a0002c0004t0003g0042 a0002c0004t0003g0175 a0002c0004t0003g0176 a0002c0013t0003g0141 a0007c0017t0001g0077 a0008c0022t0030g0001 a0009c0011t0001g0001 a0010c0020t0001g0001 a0011c0019t0001g0122 a0012c0021t0001g0130	247	432	0.5718	-55	c.106 others(72): Show c.1061+360_1062-386delGTGGTGTGCAGGGCTGCAGTGCTCTGGC CAGTGGGTGGTTGGGGCTCGGGTTGGC	SLC17A9	ENSG00000101194.18	transcript	ENST00000370351.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC17A9_chr20_62947709_62974585	62966195	GTGGTGTG others(48): Show GTGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTGGGTGGTTGGGGCTCGGG TTGGCA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18956.hp1 NA19005.hp2 others(1): Show HG02015.hp2 NA18956.hp1 NA19005.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0129 a0001c0001t0001g0024 a0001c0001t0001g0129	4	432	0.0093	-55	c.106 others(72): Show c.1062-275_1062-221delATGGTGTGCAGGGCTGCAGTGCTCTGGC CAGTGGGTGGTTGGGGCTCGGGTTGGC	SLC17A9	ENSG00000101194.18	transcript	ENST00000370351.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC22A12_chr11_64586220_64607344	64592074	TCACTCTC others(48): Show TCACTCTCGAGCCTCTCAGCCCCTCGTCAGCCACACACAGGGAAGTGGGC GGCAGG	T T	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0276 a0001c0004t0001g0276	1	390	0.0026	-55	c.402 others(70): Show c.402+117_402+171delCACTCTCGAGCCTCTCAGCCCCTCGTCAGC CACACACAGGGAAGTGGGCGGCAGG	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	1/9			chr11	TogoVar
SLC24A2_chr9_19502455_19794037	19563749	CCCTTCCT others(48): Show CCCTTCCTTCCTTTCATCTGTAACAAAACTGTTGGTTTTTATAATGACCC TTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0050 a0001c0001t0038g0050	1	188	0.0053	-55	c.134 others(74): Show c.1347+9547_1347+9601delAAGGAAGGGTCATTATAAAAACCAAC AGTTTTGTTACAGATGAAAGGAAGGAAGG	SLC24A2	ENSG00000155886.12	transcript	ENST00000341998.7	protein_coding	7/10			chr9	TogoVar
SLC25A21_chr14_36672921_37177606	37098749	ACAGACAG others(48): Show ACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGATAGATAGAT AGATAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02080.hp2 HG02083.hp1 others(7): Show HG00738.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG03831.hp1 NA18612.hp1 NA18948.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0002c0003t0008	a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0110 others(7): Show a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0002g0103 a0001c0001t0002g0113 a0001c0001t0003g0104 a0001c0001t0003g0107 a0001c0001t0004g0080 a0001c0002t0002g0115 a0002c0003t0008g0114	10	164	0.0610	-55	c.70+ others(72): Show c.70+73477_70+73531delCTATCTATCTATCTATCTGTCTGTCTGT CTGTCTGTCTGTCTGTCTGTCTGTCTG	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	1/9			chr14	TogoVar
SLC27A4_chr9_128335527_128366470	128356269	GGACTTTA others(48): Show GGACTTTATGGCGGTGGGAGGCACTCTAGGCTGCAGGAATAGACACTGTA AAGCCC	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	344	0.0029	-55	c.177 others(72): Show c.1774+474_1774+528delGACTTTATGGCGGTGGGAGGCACTCTAG GCTGCAGGAATAGACACTGTAAAGCCC	SLC27A4	ENSG00000167114.13	transcript	ENST00000300456.5	protein_coding	12/12			chr9	TogoVar

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