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
SLC15A5_chr12_16183485_16282685	16205545	TGTATATA others(28): Show TGTATATATATATATTCCATAAGAAGGGAAAGGTGC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG02056.hp2 HG00558.hp2 HG00673.hp2 HG02056.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0010 a0007c0012t0010	a0007c0012t0010g0193 a0007c0012t0010g0194 a0007c0012t0010g0195 a0007c0012t0010g0193 a0007c0012t0010g0194 a0007c0012t0010g0195	3	322	0.0093	-35	c.148 others(56): Show c.1484-11127_1484-11093delGCACCTTTCCCTTCTTATGGAATA TATATATATAC	SLC15A5	ENSG00000188991.3	transcript	ENST00000344941.3	protein_coding	7/8			chr12	TogoVar
SLC16A8_chr22_38073137_38089184	38083742	AGGAGGGT others(28): Show AGGAGGGTGTACTCAGAGACAGGTGCACCAGGAGCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00558.hp1 others(94): Show HG00140.hp2 HG00323.hp2 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01515.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02071.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG04204.hp2 NA18522.hp2 NA18948.hp2 NA18952.hp2 NA18954.hp2 NA18961.hp1 NA18961.hp2 NA18974.hp1 NA18981.hp1 NA18984.hp2 NA18985.hp1 NA19003.hp1 NA19007.hp1 NA19043.hp1 NA19059.hp1 NA19062.hp2 NA19067.hp1 NA19076.hp2 NA19078.hp2 NA19089.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp1	a0001 a0007 a0008 others(2): Show a0001 a0007 a0008 a0014 a0015	a0001c0001 a0001c0006 a0007c0011 others(3): Show a0001c0001 a0001c0006 a0007c0011 a0008c0013 a0014c0026 a0015c0015	a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 a0007c0011t0002 a0008c0013t0002 a0014c0026t0002 a0015c0015t0002	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0025 others(16): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0017 a0001c0001t0002g0027 a0001c0001t0002g0042 a0001c0006t0002g0015 a0001c0006t0002g0044 a0007c0011t0002g0028 a0008c0013t0002g0029 a0014c0026t0002g0045 a0015c0015t0002g0043	97	450	0.2156	-35	c.-32 others(52): Show c.-329+211_-329+245delGGCTCCTGGTGCACCTGTCTCTGAGTAC ACCCTCC	SLC16A8	ENSG00000100156.12	transcript	ENST00000681075.2	protein_coding	1/5			chr22	TogoVar
SLC1A2_chr11_35246205_35424558	35334814	ATTTTGTT others(28): Show ATTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0110 a0001c0001t0020g0110	1	14	0.0714	-35	c.18- others(52): Show c.18-17333_18-17299delCAAAACAAAACAAAACAAAACAAAACAA AACAAAA	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding	1/10			chr11	TogoVar
SLC1A3_chr5_36601606_36693334	36649326	CAACAAAA others(28): Show CAACAAAAGCAAAACTCCATCTCAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(153): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02965.hp1 HG03017.hp2 HG03195.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0008	a0001c0001 a0001c0003 a0004c0007 others(2): Show a0001c0001 a0001c0003 a0004c0007 a0005c0008 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0003t0001 a0001c0003t0002 a0001c0003t0012 a0004c0007t0003 a0005c0008t0002 a0008c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0040 others(150): Show a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0109 a0001c0001t0001g0143 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0208 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0236 a0001c0001t0001g0254 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0306 a0001c0001t0001g0320 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0340 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0358 a0001c0001t0001g0369 a0001c0001t0001g0372 a0001c0001t0001g0375 a0001c0001t0002g0004 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0070 a0001c0001t0002g0095 a0001c0001t0002g0105 a0001c0001t0002g0141 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0193 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0221 a0001c0001t0002g0234 a0001c0001t0002g0251 a0001c0001t0002g0262 a0001c0001t0002g0266 a0001c0001t0002g0274 a0001c0001t0002g0283 a0001c0001t0002g0287 a0001c0001t0002g0293 a0001c0001t0002g0299 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0343 a0001c0001t0002g0371 a0001c0001t0002g0373 a0001c0001t0003g0005 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0042 a0001c0001t0003g0057 a0001c0001t0003g0067 a0001c0001t0003g0086 a0001c0001t0003g0144 a0001c0001t0003g0174 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0207 a0001c0001t0003g0233 a0001c0001t0003g0235 a0001c0001t0003g0253 a0001c0001t0003g0259 a0001c0001t0003g0264 a0001c0001t0003g0278 a0001c0001t0003g0284 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0291 a0001c0001t0003g0294 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0305 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0314 a0001c0001t0003g0318 a0001c0001t0003g0321 a0001c0001t0003g0338 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0001t0003g0347 a0001c0001t0003g0374 a0001c0001t0007g0032 a0001c0001t0008g0110 a0001c0001t0010g0167 a0001c0001t0010g0198 a0001c0001t0011g0368 a0001c0001t0013g0260 a0001c0001t0018g0020 a0001c0001t0020g0315 a0001c0001t0022g0153 a0001c0001t0024g0039 a0001c0001t0025g0357 a0001c0003t0001g0087 a0001c0003t0001g0231 a0001c0003t0002g0211 a0001c0003t0002g0215 a0001c0003t0012g0216 a0004c0007t0003g0339 a0005c0008t0002g0140 a0008c0010t0001g0273	156	378	0.4127	-35	c.319 others(54): Show c.319+19742_319+19776delCAAAAGCAAAACTCCATCTCAAAAAA AAAAAAAAA	SLC1A3	ENSG00000079215.15	transcript	ENST00000265113.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC22A16_chr6_110419687_110481613	110454576	ATTTATAT others(28): Show ATTTATATATAATATATATTTATATATATTATATAT	A A	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	413	0.0024	-35	c.533 others(52): Show c.533+1927_533+1961delATATATAATATATATAAATATATATTAT ATATAAA	SLC22A16	ENSG00000004809.14	transcript	ENST00000368919.8	protein_coding	2/7			chr6	TogoVar
SLC22A16_chr6_110419687_110481613	110473491	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG01981.hp2 others(13): Show HG01243.hp1 HG01884.hp2 HG01981.hp2 HG02559.hp1 HG02622.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03516.hp2 NA19030.hp1 NA19043.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0015	a0001c0001 a0002c0002 a0002c0028 others(4): Show a0001c0001 a0002c0002 a0002c0028 a0003c0003 a0003c0012 a0006c0006 a0015c0020	a0001c0001t0001 a0002c0002t0001 a0002c0028t0001 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0028t0001 a0003c0003t0001 a0003c0012t0001 a0006c0006t0001 a0015c0020t0001	a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 others(13): Show a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0321 a0002c0002t0001g0382 a0002c0002t0001g0383 a0002c0002t0001g0384 a0002c0028t0001g0385 a0003c0003t0001g0387 a0003c0012t0001g0381 a0006c0006t0001g0320 a0015c0020t0001g0386	16	25	0.6400	-35	c.53+ others(50): Show c.53+2996_53+3030delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	SLC22A16	ENSG00000004809.14	transcript	ENST00000368919.8	protein_coding	1/7			chr6	TogoVar
SLC22A18_chr11_2897278_2930246	2926529	CCTACAGC others(28): Show CCTACAGCTCAGTGGCCCCCAACATTTTCCGCACCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0163 a0002c0002t0001g0163	1	404	0.0025	-35	c.13 others(46): Show c.1333_*1367delCTACAGCTCAGTGGCCCCCAACATTTTCCGCACC A	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding		1284		chr11	TogoVar
SLC22A25_chr11_63153437_63248599	63177829	TATATAAT others(28): Show TATATAATGTGTATATATATATAATGTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03453.hp1 HG03453.hp2 others(1): Show HG02055.hp1 HG03453.hp1 HG03453.hp2 NA20300.hp1	a0006 a0011 a0006 a0011	a0006c0008 a0011c0012 a0006c0008 a0011c0012	a0006c0008t0018 a0006c0008t0033 a0011c0012t0023 a0006c0008t0018 a0006c0008t0033 a0011c0012t0023	a0006c0008t0018g0156 a0006c0008t0018g0157 a0006c0008t0033g0155 others(1): Show a0006c0008t0018g0156 a0006c0008t0018g0157 a0006c0008t0033g0155 a0011c0012t0023g0162	4	342	0.0117	-35	c.107 others(54): Show c.1070+2796_1070+2830delTATATATATACATTATATATATATAC ACATTATAT	SLC22A25	ENSG00000196600.13	transcript	ENST00000306494.11	protein_coding	9/11			chr11	TogoVar
SLC22A7_chr6_43293260_43310538	43294236	CCACCATC others(28): Show CCACCATCATTATTACCATCACCACATCACCACCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	402	0.0025	-35	c.-41 others(46): Show c.-4122_-4088delCACCATCATTATTACCATCACCACATCACCACCA G	SLC22A7	ENSG00000137204.15	transcript	ENST00000372585.10	protein_coding		4023		chr6	TogoVar
SLC24A2_chr9_19502455_19794037	19563761	TTCATCTG others(28): Show TTCATCTGTAACAAAACTGTTGGTTTTTATAATGAC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03041.hp1 HG03669.hp2 others(2): Show HG02738.hp1 HG03041.hp1 HG03669.hp2 NA18992.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0079 a0001c0003t0002 others(2): Show a0001c0001t0006 a0001c0001t0079 a0001c0003t0002 a0001c0003t0015 a0001c0003t0084	a0001c0001t0006g0122 a0001c0001t0079g0115 a0001c0003t0002g0146 others(2): Show a0001c0001t0006g0122 a0001c0001t0079g0115 a0001c0003t0002g0146 a0001c0003t0015g0134 a0001c0003t0084g0145	5	186	0.0269	-35	c.134 others(54): Show c.1347+9555_1347+9589delGTCATTATAAAAACCAACAGTTTTGT TACAGATGA	SLC24A2	ENSG00000155886.12	transcript	ENST00000341998.7	protein_coding	7/10			chr9	TogoVar
SLC24A3_chr20_19207642_19727926	19230626	GGGGGGGA others(28): Show GGGGGGGAATGGATGGGTATAGAAAGACATATTGAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00735.hp2 others(20): Show HG00099.hp2 HG00558.hp1 HG00735.hp2 HG00738.hp1 HG01257.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG02273.hp2 HG02280.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG03017.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG04228.hp2 NA18939.hp2 NA18984.hp1 NA18984.hp2 NA19011.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0002c0002 others(6): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0002c0006 a0002c0007 a0003c0011 a0006c0020 a0006c0021	a0001c0001t0002 a0001c0001t0017 a0001c0003t0001 others(15): Show a0001c0001t0002 a0001c0001t0017 a0001c0003t0001 a0001c0003t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0014 a0002c0002t0019 a0002c0005t0005 a0002c0006t0001 a0002c0006t0002 a0002c0007t0002 a0002c0007t0009 a0002c0007t0018 a0003c0011t0002 a0003c0011t0004 a0006c0020t0002 a0006c0021t0003	a0001c0001t0002g0003 a0001c0001t0002g0052 a0001c0001t0017g0045 others(20): Show a0001c0001t0002g0003 a0001c0001t0002g0052 a0001c0001t0017g0045 a0001c0003t0001g0055 a0001c0003t0002g0053 a0002c0002t0002g0049 a0002c0002t0003g0030 a0002c0002t0003g0048 a0002c0002t0014g0047 a0002c0002t0019g0121 a0002c0005t0005g0039 a0002c0006t0001g0029 a0002c0006t0002g0005 a0002c0006t0002g0054 a0002c0006t0002g0119 a0002c0007t0002g0035 a0002c0007t0002g0036 a0002c0007t0009g0050 a0002c0007t0018g0120 a0003c0011t0002g0051 a0003c0011t0004g0040 a0006c0020t0002g0046 a0006c0021t0003g0044	23	160	0.1438	-35	c.142 others(54): Show c.142+17649_142+17683delAATGGATGGGTATAGAAAGACATATT GATGGGGGG	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC25A48_chr5_135829663_135893637	135886604	TATATATA others(28): Show TATATATATATATATATATATATATATATATATAAA	T T	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0028 a0001c0006t0004g0028	1	358	0.0028	-35	c.8- others(50): Show c.8-1417_*8-1383delATATATATATATATATATATATAAAATATA TATAT	SLC25A48	ENSG00000145832.16	transcript	ENST00000681962.1	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC2A12_chr6_133982581_134057624	134022533	AAAAAGAA others(28): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00438.hp1 others(145): Show HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01074.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG04115.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18946.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19072.hp2 NA19079.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0008 others(4): Show a0001c0001 a0001c0002 a0001c0008 a0001c0011 a0002c0003 a0003c0007 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0054 a0001c0001t0063 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0008t0001 a0001c0011t0001 a0002c0003t0024 a0002c0003t0025 a0002c0003t0026 a0002c0003t0055 a0003c0007t0002 a0004c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0014 others(143): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0135 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0198 a0001c0001t0001g0211 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0249 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0306 a0001c0001t0001g0313 a0001c0001t0001g0320 a0001c0001t0002g0009 a0001c0001t0002g0021 a0001c0001t0002g0053 a0001c0001t0002g0088 a0001c0001t0002g0103 a0001c0001t0002g0109 a0001c0001t0002g0134 a0001c0001t0002g0139 a0001c0001t0002g0163 a0001c0001t0002g0187 a0001c0001t0002g0200 a0001c0001t0002g0205 a0001c0001t0002g0216 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0238 a0001c0001t0002g0254 a0001c0001t0002g0267 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0309 a0001c0001t0002g0329 a0001c0001t0003g0034 a0001c0001t0003g0036 a0001c0001t0003g0066 a0001c0001t0003g0076 a0001c0001t0003g0085 a0001c0001t0003g0150 a0001c0001t0003g0192 a0001c0001t0003g0277 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0104 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0190 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0293 a0001c0001t0005g0084 a0001c0001t0005g0090 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0005g0209 a0001c0001t0005g0228 a0001c0001t0005g0328 a0001c0001t0006g0073 a0001c0001t0006g0087 a0001c0001t0006g0244 a0001c0001t0009g0154 a0001c0001t0010g0300 a0001c0001t0013g0153 a0001c0001t0013g0174 a0001c0001t0014g0102 a0001c0001t0014g0280 a0001c0001t0015g0077 a0001c0001t0016g0040 a0001c0001t0016g0063 a0001c0001t0018g0035 a0001c0001t0018g0278 a0001c0001t0020g0120 a0001c0001t0020g0121 a0001c0001t0023g0002 a0001c0001t0024g0064 a0001c0001t0028g0145 a0001c0001t0030g0312 a0001c0001t0032g0016 a0001c0001t0033g0096 a0001c0001t0034g0138 a0001c0001t0035g0129 a0001c0001t0036g0166 a0001c0001t0038g0304 a0001c0001t0039g0285 a0001c0001t0041g0286 a0001c0001t0043g0246 a0001c0001t0045g0068 a0001c0001t0046g0259 a0001c0001t0047g0031 a0001c0001t0048g0067 a0001c0001t0049g0024 a0001c0001t0050g0195 a0001c0001t0051g0236 a0001c0001t0054g0233 a0001c0001t0063g0041 a0001c0002t0001g0071 a0001c0002t0002g0316 a0001c0002t0004g0070 a0001c0002t0004g0072 a0001c0002t0007g0069 a0001c0008t0001g0110 a0001c0011t0001g0168 a0002c0003t0024g0045 a0002c0003t0025g0006 a0002c0003t0026g0007 a0002c0003t0055g0311 a0003c0007t0002g0268 a0004c0004t0001g0008	148	189	0.7831	-35	c.144 others(54): Show c.1444+5813_1444+5847delCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTT	SLC2A12	ENSG00000146411.6	transcript	ENST00000275230.6	protein_coding	2/4			chr6	TogoVar
SLC35F1_chr6_117902264_118322671	118112082	CTTTCTTT others(28): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00733.hp1 HG00735.hp1 others(43): Show HG00609.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01167.hp2 HG01261.hp1 HG01261.hp2 HG01515.hp1 HG01934.hp1 HG02040.hp1 HG02129.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp2 HG02630.hp1 HG02647.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG03098.hp2 HG03490.hp1 HG03492.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18906.hp2 NA18945.hp1 NA18946.hp1 NA18972.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp2 NA19005.hp1 NA19012.hp1 NA19055.hp1 NA19057.hp2 NA19070.hp2 NA19074.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0035 a0001c0001t0044 a0001c0001t0051 a0001c0001t0052 a0001c0001t0055 a0001c0001t0060	a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 others(43): Show a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0043 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0125 a0001c0001t0002g0135 a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0095 a0001c0001t0003g0182 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0071 a0001c0001t0004g0099 a0001c0001t0004g0101 a0001c0001t0005g0111 a0001c0001t0009g0056 a0001c0001t0009g0057 a0001c0001t0010g0088 a0001c0001t0011g0107 a0001c0001t0012g0068 a0001c0001t0012g0172 a0001c0001t0013g0112 a0001c0001t0014g0042 a0001c0001t0014g0130 a0001c0001t0018g0148 a0001c0001t0020g0026 a0001c0001t0020g0050 a0001c0001t0021g0018 a0001c0001t0022g0105 a0001c0001t0022g0110 a0001c0001t0025g0155 a0001c0001t0025g0157 a0001c0001t0027g0097 a0001c0001t0029g0009 a0001c0001t0035g0136 a0001c0001t0044g0064 a0001c0001t0051g0081 a0001c0001t0052g0165 a0001c0001t0055g0067 a0001c0001t0060g0082	46	74	0.6216	-35	c.174 others(54): Show c.174-42334_174-42300delCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC37A3_chr7_140328752_140403530	140402290	ACTGTTAC others(28): Show ACTGTTACTACACAAGATACATTCTGAAGTTGTTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0124 a0001c0001t0006g0124	1	344	0.0029	-35	c.-39 others(46): Show c.-3980_-3946delGAAACAACTTCAGAATGTATCTTGTGTAGTAACA G	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding		3761		chr7	TogoVar
SLC39A11_chr17_72640949_73097688	72900095	AAAAGAAA others(28): Show AAAAGAAAGAAAGAAAAAGAAAGAAAGAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02630.hp2 HG02280.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0022 a0001c0001t0003g0029 a0001c0001t0002g0022 a0001c0001t0003g0029	2	79	0.0253	-35	c.430 others(54): Show c.430+47622_430+47656delCTTTCTTTTCTTTCTTTCTTTTTCTT TCTTTCTTT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	5/9			chr17	TogoVar
SLC39A14_chr8_22362278_22427736	22368504	TTATTTTA others(28): Show TTATTTTATTTTATTTTATTTTATTTTATTTTATTG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02602.hp2 HG02559.hp2 HG02602.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0006 a0001c0005 a0002c0006	a0001c0005t0003 a0002c0006t0017 a0001c0005t0003 a0002c0006t0017	a0001c0005t0003g0165 a0002c0006t0017g0161 a0001c0005t0003g0165 a0002c0006t0017g0161	2	322	0.0062	-35	c.-16 others(52): Show c.-16+1112_-16+1146delTATTTTATTTTATTTTATTGTATTTTAT TTTATTT	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC39A9_chr14_69393692_69467390	69411465	ATAAAACC others(28): Show ATAAAACCAATGGCATTGCACAGTTCATGCCTCTCC	A A	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	324	0.0031	-35	c.96+ others(52): Show c.96+12002_96+12036delAAAACCAATGGCATTGCACAGTTCATGC CTCTCCT	SLC39A9	ENSG00000029364.12	transcript	ENST00000336643.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
SLC41A3_chr3_126001357_126089124	126033293	AAGAGAAG others(28): Show AAGAGAAGCCTGTTAGCACTGTGCAGTCCATGAGAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00558.hp1 others(97): Show HG00323.hp1 HG00438.hp1 HG00558.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01256.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01943.hp1 HG01981.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp2 HG02896.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03704.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18941.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18956.hp1 NA18967.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18985.hp2 NA18986.hp2 NA18998.hp1 NA19002.hp1 NA19005.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0009 a0002c0003 others(1): Show a0001c0001 a0001c0009 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0009t0008 a0002c0003t0001 a0002c0003t0007 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0027 others(85): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0140 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0007g0307 a0001c0001t0010g0309 a0001c0001t0012g0327 a0001c0009t0008g0306 a0001c0009t0008g0308 a0002c0003t0001g0236 a0002c0003t0001g0237 a0002c0003t0001g0238 a0002c0003t0001g0239 a0002c0003t0007g0202 a0003c0004t0001g0032 a0003c0004t0001g0299 a0003c0004t0001g0301 a0003c0004t0001g0302 a0003c0004t0001g0303 a0003c0004t0001g0304	100	368	0.2717	-35	c.453 others(50): Show c.453+279_453+313delGTCTCATGGACTGCACAGTGCTAACAGGCT TCTCT	SLC41A3	ENSG00000114544.17	transcript	ENST00000360370.9	protein_coding	4/10			chr3	TogoVar
SLC43A3_chr11_57401954_57432121	57403471	GAAGAAGA others(28): Show GAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	323	0.0031	-35	c.42 others(46): Show c.4286_*4320delTTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCT T	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3482		chr11	TogoVar
SLC5A10_chr17_18947165_19027565	18968607	CCTGGTCC others(28): Show CCTGGTCCGCCCAGCACACACTTTTCCTGAGGCCTA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02055.hp1 HG02280.hp1 others(15): Show HG01433.hp1 HG02055.hp1 HG02280.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03579.hp1 NA18522.hp1 NA18906.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0033 others(3): Show a0001c0001 a0001c0006 a0001c0033 a0002c0003 a0003c0002 a0003c0011	a0001c0001t0001 a0001c0006t0016 a0001c0033t0001 others(3): Show a0001c0001t0001 a0001c0006t0016 a0001c0033t0001 a0002c0003t0004 a0003c0002t0006 a0003c0011t0006	a0001c0001t0001g0169 a0001c0001t0001g0201 a0001c0001t0001g0203 others(15): Show a0001c0001t0001g0169 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0246 a0001c0001t0001g0281 a0001c0006t0016g0105 a0001c0033t0001g0136 a0002c0003t0004g0271 a0002c0003t0004g0278 a0003c0002t0006g0128 a0003c0002t0006g0202 a0003c0002t0006g0245 a0003c0002t0006g0283 a0003c0002t0006g0342 a0003c0011t0006g0104 a0003c0011t0006g0106 a0003c0011t0006g0185 a0003c0011t0006g0188	18	352	0.0511	-35	c.454 others(50): Show c.454-403_454-369delCGCCCAGCACACACTTTTCCTGAGGCCTAC TGGTC	SLC5A10	ENSG00000154025.16	transcript	ENST00000395645.4	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC6A18_chr5_1220381_1251189	1229997	TGGTGCAG others(28): Show TGGTGCAGGCTGGAGGTGGGGGAAGAAGAGCTCTCA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0004 a0001c0040t0004	a0001c0040t0004g0270 a0001c0040t0004g0270	1	356	0.0028	-35	c.161 others(52): Show c.161-2199_161-2165delAGAAGAGCTCTCAGGTGCAGGCTGGAGG TGGGGGA	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1236726	GCTGTGCA others(28): Show GCTGTGCAGTGTCTCAGGACGCCAGTGCCCCATGTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG01099.hp1 others(2): Show HG00099.hp1 HG00738.hp2 HG01099.hp1 HG01261.hp2 HG01433.hp2	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0002 a0006c0021 a0010c0012 a0001c0002 a0006c0021 a0010c0012	a0001c0002t0002 a0006c0021t0004 a0010c0012t0004 a0001c0002t0002 a0006c0021t0004 a0010c0012t0004	a0001c0002t0002g0099 a0006c0021t0004g0034 a0006c0021t0004g0170 others(1): Show a0001c0002t0002g0099 a0006c0021t0004g0034 a0006c0021t0004g0170 a0010c0012t0004g0213	5	454	0.0110	-35	c.621 others(52): Show c.621+1098_621+1132delTCCTGTGCAGTGTCTCAGGACGCCAGTG CCCCATG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A19_chr5_1196595_1230111	1229997	TGGTGCAG others(28): Show TGGTGCAGGCTGGAGGTGGGGGAAGAAGAGCTCTCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0294 a0001c0001t0040g0294	1	354	0.0028	-35	c.80 others(46): Show c.8094_*8128delGGTGCAGGCTGGAGGTGGGGGAAGAAGAGCTCTC A	SLC6A19	ENSG00000174358.16	transcript	ENST00000304460.11	protein_coding		4887		chr5	TogoVar
SLC6A6_chr3_14397606_14494349	14399042	AGATAAAC others(28): Show AGATAAACCAGGCATTCAGATTTTGTTGTTGTTGTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	374	0.0027	-35	c.-38 others(46): Show c.-3858_-3824delGATAAACCAGGCATTCAGATTTTGTTGTTGTTGT T	SLC6A6	ENSG00000131389.18	transcript	ENST00000622186.5	protein_coding		3563		chr3	TogoVar
SLC9A3_chr5_465456_529449	495377	GCTCCCCG others(28): Show GCTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02080.hp2 HG02257.hp2 others(6): Show HG00558.hp1 HG02080.hp2 HG02257.hp2 HG02622.hp1 HG03471.hp1 NA18522.hp1 NA18948.hp1 NA18983.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0024 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0024 a0001c0007t0001 a0002c0002t0003	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 others(6): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0052 a0001c0001t0005g0180 a0001c0001t0024g0119 a0001c0007t0001g0043 a0001c0007t0001g0045 a0002c0002t0003g0165	9	40	0.2250	-35	c.212 others(52): Show c.212-3341_212-3307delTGGAGCGTGGGGAGGGTCGGCGATGGCG CGGGGAG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLIT1_chr10_96993038_97190959	97141701	CGTATTGT others(28): Show CGTATTGTATTGTACTGTATTGTATTGTACTGTATT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0002 a0001c0001t0013g0002	1	253	0.0040	-35	c.413 others(54): Show c.413+16082_413+16116delAATACAGTACAATACAATACAGTACA ATACAATAC	SLIT1	ENSG00000187122.17	transcript	ENST00000266058.9	protein_coding	4/36			chr10	TogoVar
SLIT2_chr4_20246905_20625561	20472569	TATAGATA others(28): Show TATAGATATATCTATATATAGATATATATCTATAGA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0189 a0001c0001t0010g0189	1	227	0.0044	-35	c.467 others(52): Show c.467+4747_467+4781delATAGATATATCTATATATAGATATATAT CTATAGA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36			chr4	TogoVar
SMCO1_chr3_196501879_196520346	196515983	GATAGGAT others(28): Show GATAGGATATATATATATATATATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02451.hp2 HG02965.hp1 others(2): Show HG01255.hp2 HG02451.hp2 HG02965.hp1 HG02976.hp1 NA19030.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0043 a0004c0004t0003g0056 a0004c0004t0003g0059 others(1): Show a0004c0004t0003g0043 a0004c0004t0003g0056 a0004c0004t0003g0059 a0004c0004t0003g0147	5	281	0.0178	-35	c.-80 others(44): Show c.-809_-775delATATATATATATATATATATATATATATATCCTAT	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding		638		chr3	TogoVar
SMG1_chr16_18799860_18931408	18827465	TATATTTT others(28): Show TATATTTTTATATATATTTGGTATAAATATACCAAA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0299 a0001c0003t0009g0299	1	298	0.0034	-35	c.974 others(52): Show c.9741+531_9741+565delTTTGGTATATTTATACCAAATATATATA AAAATAT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	55/62			chr16	TogoVar
SMIM2_chr13_44138150_44166257	44142132	CCTCGGCT others(28): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG01515.hp2 others(6): Show HG00738.hp1 HG01099.hp1 HG01515.hp2 HG02055.hp1 HG02083.hp2 HG02738.hp2 HG02886.hp2 HG04204.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0003t0005	a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0002g0120 others(6): Show a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0002g0120 a0001c0001t0003g0021 a0001c0001t0003g0042 a0001c0001t0003g0066 a0001c0001t0003g0100 a0001c0001t0007g0105 a0001c0003t0005g0055	9	10	0.9000	-35	c.17 others(46): Show c.1751_*1785delCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA G	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMN1_chr5_70920087_70958015	70954868	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	36	0.0278	-35	c.24 others(46): Show c.2434_*2468delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA C	SMN1	ENSG00000172062.17	transcript	ENST00000380707.9	protein_coding		1854		chr5	TogoVar
SMNDC1_chr10_110285730_110309920	110309733	AGAGCCCA others(28): Show AGAGCCCAGCTCAAGTGGGCTCCACTAGCCAAATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	390	0.0026	-35	c.-50 others(46): Show c.-5021_-4987delATATTTGGCTAGTGGAGCCCACTTGAGCTGGGCT C	SMNDC1	ENSG00000119953.14	transcript	ENST00000369603.10	protein_coding		4814		chr10	TogoVar
SMOX_chr20_4143828_4192727	4168883	CTATTTTA others(28): Show CTATTTTATTTTATTTTATTTTATTTTATTTTATTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp1 HG03453.hp2 others(2): Show HG02451.hp1 HG03195.hp1 HG03453.hp2 HG03486.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0001c0016	a0001c0001t0001 a0001c0003t0001 a0001c0008t0003 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0008t0003 a0001c0016t0005	a0001c0001t0001g0034 a0001c0003t0001g0008 a0001c0008t0003g0342 others(1): Show a0001c0001t0001g0034 a0001c0003t0001g0008 a0001c0008t0003g0342 a0001c0016t0005g0184	5	70	0.0714	-35	c.-26 others(52): Show c.-26-6113_-26-6079delTTTATTTTATTTTATTTTATTTTATTTT ATTTTAT	SMOX	ENSG00000088826.18	transcript	ENST00000305958.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SNAP91_chr6_83547885_83714101	83654573	CCAGTGAA others(28): Show CCAGTGAATGCACAAGACTATCTGTGGTTATATCCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	364	0.0027	-35	c.658 others(52): Show c.658+2146_658+2180delAGGATATAACCACAGATAGTCTTGTGCA TTCACTG	SNAP91	ENSG00000065609.15	transcript	ENST00000369694.7	protein_coding	7/29			chr6	TogoVar
SNTG2_chr2_945849_1372613	1056249	ACTGTGCT others(28): Show ACTGTGCTGTGGGGAGGGAGGGAGGGAGAGGCCGCG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0044 a0003c0008t0001g0044	1	139	0.0072	-35	c.73- others(52): Show c.73-27267_73-27233delTGTGCTGTGGGGAGGGAGGGAGGGAGAG GCCGCGC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1056251	TGTGCTGT others(28): Show TGTGCTGTGGGGAGGGAGGGAGGGAGAGGCCGCGCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02615.hp2 others(5): Show HG02109.hp1 HG02280.hp2 HG02615.hp2 HG02647.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG03471.hp2	a0003 a0007 a0010 others(3): Show a0003 a0007 a0010 a0013 a0016 a0017	a0003c0007 a0007c0017 a0010c0013 others(3): Show a0003c0007 a0007c0017 a0010c0013 a0013c0018 a0016c0023 a0017c0036	a0003c0007t0001 a0007c0017t0001 a0010c0013t0001 others(3): Show a0003c0007t0001 a0007c0017t0001 a0010c0013t0001 a0013c0018t0001 a0016c0023t0001 a0017c0036t0001	a0003c0007t0001g0068 a0007c0017t0001g0106 a0007c0017t0001g0125 others(5): Show a0003c0007t0001g0068 a0007c0017t0001g0106 a0007c0017t0001g0125 a0010c0013t0001g0140 a0013c0018t0001g0045 a0013c0018t0001g0046 a0016c0023t0001g0049 a0017c0036t0001g0070	8	186	0.0430	-35	c.73- others(52): Show c.73-27210_73-27176delGGAGAGGCCGCGCCGTGCTGTGGGGAGG GAGGGAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX27_chr1_151607050_151704080	151676270	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18906.hp1 NA18948.hp1 others(1): Show HG00735.hp1 NA18906.hp1 NA18948.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0062 a0001c0001t0077 a0001c0001t0001 a0001c0001t0062 a0001c0001t0077	a0001c0001t0001g0213 a0001c0001t0001g0221 a0001c0001t0062g0198 others(1): Show a0001c0001t0001g0213 a0001c0001t0001g0221 a0001c0001t0062g0198 a0001c0001t0077g0188	4	5	0.8000	-35	c.115 others(54): Show c.1150-7067_1150-7033delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX29_chr16_11971734_12579287	12512383	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00741.hp1 HG01069.hp1 others(11): Show HG00673.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01175.hp2 HG01358.hp1 HG02683.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 NA19043.hp2 NA20805.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0004c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0027 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0027 a0001c0001t0033 a0001c0002t0064 a0001c0002t0086 a0001c0002t0087 a0001c0003t0004 a0001c0003t0041 a0001c0003t0051 a0001c0004t0069 a0004c0011t0010	a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0004g0157 others(11): Show a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0004g0157 a0001c0001t0027g0083 a0001c0001t0033g0063 a0001c0002t0064g0107 a0001c0002t0086g0018 a0001c0002t0087g0073 a0001c0003t0004g0093 a0001c0003t0004g0096 a0001c0003t0041g0075 a0001c0003t0051g0131 a0001c0004t0069g0111 a0004c0011t0010g0116	14	174	0.0805	-35	c.217 others(56): Show c.2179-12318_2179-12284delATATATATATATATATATATATAT ATATATATATA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	19/20			chr16	TogoVar
SOCS3_chr17_78351778_78365077	78362683	CTGCATGA others(28): Show CTGCATGACCATACACTTCTGGGTAGAGCCCAGTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0006	1	466	0.0021	-35	c.-30 others(46): Show c.-3057_-3023delCCACTGGGCTCTACCCAGAAGTGTATGGTCATGC A	SOCS3	ENSG00000184557.4	transcript	ENST00000330871.3	protein_coding		2607		chr17	TogoVar
SOD1_chr21_31654693_31673931	31655572	AGCCTGGC others(28): Show AGCCTGGCACTTATAGGTTCTTCAGGCACTTCAGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	424	0.0024	-35	c.-41 others(46): Show c.-4197_-4163delGCCTGGCACTTATAGGTTCTTCAGGCACTTCAGA T	SOD1	ENSG00000142168.15	transcript	ENST00000270142.11	protein_coding		4120		chr21	TogoVar
SON_chr21_33538038_33582481	33577654	CACACACA others(28): Show CACACACACACACACACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG03195.hp1 HG03225.hp2 HG00741.hp1 HG03195.hp1 HG03225.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0031 a0002c0003t0001g0031	3	362	0.0083	-35	c.12 others(46): Show c.1231_*1265delACACACACACACACACACACACACACACACACAC A	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		174		chr21	TogoVar
SON_chr21_33538038_33582481	33577667	ACACACAC others(28): Show ACACACACACACACACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG03540.hp2 HG02015.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0105 a0001c0001t0001g0088 a0001c0001t0001g0105	2	361	0.0055	-35	c.12 others(46): Show c.1244_*1278delCACACACACACACACACACACACACACACACACA C	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		187		chr21	TogoVar
SORCS2_chr4_7187538_7747827	7403973	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01192.hp1 HG01258.hp1 others(13): Show HG01106.hp2 HG01192.hp1 HG01258.hp1 HG01346.hp2 HG01891.hp2 HG02055.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG03209.hp1 HG03492.hp2 HG03579.hp1 HG03688.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0015	a0001c0002 a0001c0005 a0001c0006 others(11): Show a0001c0002 a0001c0005 a0001c0006 a0001c0010 a0001c0011 a0001c0026 a0001c0034 a0001c0036 a0001c0051 a0002c0004 a0003c0046 a0004c0007 a0006c0008 a0015c0054	a0001c0002t0021 a0001c0002t0053 a0001c0005t0003 others(12): Show a0001c0002t0021 a0001c0002t0053 a0001c0005t0003 a0001c0006t0002 a0001c0010t0026 a0001c0011t0003 a0001c0026t0004 a0001c0034t0005 a0001c0036t0040 a0001c0051t0001 a0002c0004t0022 a0003c0046t0001 a0004c0007t0001 a0006c0008t0001 a0015c0054t0020	a0001c0002t0021g0090 a0001c0002t0053g0115 a0001c0005t0003g0032 others(13): Show a0001c0002t0021g0090 a0001c0002t0053g0115 a0001c0005t0003g0032 a0001c0006t0002g0118 a0001c0010t0026g0105 a0001c0011t0003g0120 a0001c0026t0004g0049 a0001c0034t0005g0093 a0001c0036t0040g0022 a0001c0051t0001g0068 a0002c0004t0022g0057 a0002c0004t0022g0114 a0003c0046t0001g0164 a0004c0007t0001g0026 a0006c0008t0001g0006 a0015c0054t0020g0113	16	168	0.0952	-35	c.548 others(52): Show c.548+7620_548+7654delATATATATATATATATATATATATTTTT TTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104778862	ACCTGTGG others(28): Show ACCTGTGGATGTTACCCTATGTGGCAAAAGGGACTT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0020 a0001c0002t0011g0020	1	134	0.0075	-35	c.628 others(54): Show c.628-63894_628-63860delCCTGTGGATGTTACCCTATGTGGCAA AAGGGACTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SOX5_chr12_23524504_23954670	23570931	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01175.hp2 HG01496.hp2 others(2): Show HG01168.hp2 HG01175.hp2 HG01496.hp2 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0012 a0001c0001t0061 a0001c0001t0011 a0001c0001t0012 a0001c0001t0061	a0001c0001t0011g0082 a0001c0001t0011g0131 a0001c0001t0011g0144 others(2): Show a0001c0001t0011g0082 a0001c0001t0011g0131 a0001c0001t0011g0144 a0001c0001t0012g0116 a0001c0001t0061g0136	5	150	0.0333	-35	c.134 others(54): Show c.1342+4695_1342+4729delATATATATATATATATATATATATAT ATATATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16127785	CAAACAGC others(28): Show CAAACAGCATGGATAATGAGGGGAATCCATAACAGA	C C	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0144 a0001c0002t0001g0144	1	216	0.0046	-35	c.778 others(54): Show c.778-15897_778-15863delTCTGTTATGGATTCCCCTCATTATCC ATGCTGTTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SP100_chr2_230411201_230550606	230497519	GAGGAGAG others(28): Show GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02896.hp1 HG03041.hp2 others(3): Show HG01884.hp1 HG02896.hp1 HG03041.hp2 HG03471.hp2 HG03579.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0039 a0001c0001t0008g0040 a0001c0001t0008g0041 others(3): Show a0001c0001t0008g0039 a0001c0001t0008g0040 a0001c0001t0008g0041 a0001c0001t0008g0053 a0001c0001t0008g0132 a0001c0001t0008g0172	6	288	0.0208	-35	c.164 others(52): Show c.1646-937_1646-903delGAGGAGAGGAGAGGAGAGGAGAGGAAAG GAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497524	GAGGAGAG others(28): Show GAGGAGAGGAGAGGAGAGGAGAGGAAAGGAAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0125 a0001c0003t0004g0125	1	278	0.0036	-35	c.164 others(52): Show c.1646-932_1646-898delGAGGAGAGGAGAGGAGAGGAAAGGAAAG GAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497529	GAGGAGAG others(28): Show GAGGAGAGGAGAGGAGAGGAAAGGAAAGGAAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00738.hp1 HG01074.hp1 others(4): Show HG00408.hp1 HG00738.hp1 HG01074.hp1 HG01074.hp2 HG01257.hp2 HG01258.hp2 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0002 a0001c0003t0002 a0003c0004t0002 a0001c0001t0002 a0001c0003t0002 a0003c0004t0002	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 others(4): Show a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0067 a0001c0003t0002g0275 a0003c0004t0002g0269	7	270	0.0259	-35	c.164 others(52): Show c.1646-927_1646-893delGAGGAGAGGAGAGGAAAGGAAAGGAAAG GAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar

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