Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RSF1_chr11_77655009_77825722	77697441	TATATATA others(39): Show TATATATATAAATATATTATATAAAATATATTTATATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(264): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01975.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0007 a0009 a0011 a0012	a0001c0001 a0001c0002 a0001c0009 others(10): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0001c0017 a0002c0003 a0002c0004 a0004c0006 a0005c0007 a0007c0012 a0009c0014 a0011c0018 a0012c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0040 a0001c0001t0041 a0001c0001t0052 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0068 a0001c0002t0003 a0001c0002t0010 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0002t0024 a0001c0002t0029 a0001c0002t0030 a0001c0002t0031 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035 a0001c0002t0037 a0001c0009t0036 a0001c0010t0001 a0001c0017t0001 a0002c0003t0002 a0002c0003t0008 a0002c0003t0012 a0002c0003t0021 a0002c0003t0050 a0002c0004t0002 a0004c0006t0012 a0005c0007t0001 a0005c0007t0064 a0007c0012t0001 a0009c0014t0005 a0011c0018t0032 a0012c0008t0003	a0001c0001t0001g0016 a0001c0001t0001g0086 a0001c0001t0001g0087 others(264): Show a0001c0001t0001g0016 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0264 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0284 a0001c0001t0005g0038 a0001c0001t0005g0252 a0001c0001t0005g0253 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0005g0261 a0001c0001t0005g0263 a0001c0001t0005g0293 a0001c0001t0005g0304 a0001c0001t0006g0118 a0001c0001t0006g0121 a0001c0001t0006g0122 a0001c0001t0006g0123 a0001c0001t0006g0125 a0001c0001t0006g0127 a0001c0001t0008g0267 a0001c0001t0008g0268 a0001c0001t0008g0269 a0001c0001t0008g0270 a0001c0001t0009g0242 a0001c0001t0009g0243 a0001c0001t0009g0244 a0001c0001t0009g0245 a0001c0001t0013g0271 a0001c0001t0013g0272 a0001c0001t0013g0273 a0001c0001t0023g0251 a0001c0001t0023g0275 a0001c0001t0025g0259 a0001c0001t0026g0256 a0001c0001t0027g0260 a0001c0001t0040g0116 a0001c0001t0041g0249 a0001c0001t0052g0265 a0001c0001t0057g0278 a0001c0001t0058g0331 a0001c0001t0059g0310 a0001c0001t0060g0257 a0001c0001t0061g0306 a0001c0001t0062g0283 a0001c0001t0063g0291 a0001c0001t0068g0352 a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0058 a0001c0002t0003g0059 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0070 a0001c0002t0003g0071 a0001c0002t0003g0072 a0001c0002t0003g0073 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0010g0013 a0001c0002t0010g0350 a0001c0002t0010g0351 a0001c0002t0014g0009 a0001c0002t0014g0011 a0001c0002t0015g0051 a0001c0002t0015g0074 a0001c0002t0016g0005 a0001c0002t0016g0008 a0001c0002t0017g0006 a0001c0002t0017g0007 a0001c0002t0018g0046 a0001c0002t0018g0065 a0001c0002t0024g0026 a0001c0002t0024g0031 a0001c0002t0029g0017 a0001c0002t0030g0085 a0001c0002t0031g0075 a0001c0002t0033g0012 a0001c0002t0034g0010 a0001c0002t0035g0057 a0001c0002t0037g0060 a0001c0009t0036g0015 a0001c0010t0001g0340 a0001c0017t0001g0094 a0002c0003t0002g0099 a0002c0003t0002g0203 a0002c0003t0002g0204 a0002c0003t0002g0205 a0002c0003t0002g0206 a0002c0003t0002g0207 a0002c0003t0002g0208 a0002c0003t0002g0212 a0002c0003t0002g0213 a0002c0003t0002g0214 a0002c0003t0002g0215 a0002c0003t0002g0216 a0002c0003t0002g0217 a0002c0003t0002g0218 a0002c0003t0002g0219 a0002c0003t0002g0221 a0002c0003t0002g0222 a0002c0003t0002g0223 a0002c0003t0002g0225 a0002c0003t0002g0227 a0002c0003t0002g0228 a0002c0003t0002g0229 a0002c0003t0002g0230 a0002c0003t0002g0232 a0002c0003t0002g0235 a0002c0003t0002g0236 a0002c0003t0002g0238 a0002c0003t0002g0239 a0002c0003t0002g0240 a0002c0003t0002g0241 a0002c0003t0002g0303 a0002c0003t0002g0345 a0002c0003t0002g0346 a0002c0003t0002g0347 a0002c0003t0002g0348 a0002c0003t0008g0266 a0002c0003t0012g0220 a0002c0003t0021g0209 a0002c0003t0021g0210 a0002c0003t0050g0211 a0002c0004t0002g0224 a0002c0004t0002g0231 a0002c0004t0002g0233 a0002c0004t0002g0234 a0002c0004t0002g0237 a0004c0006t0012g0001 a0004c0006t0012g0002 a0005c0007t0001g0349 a0005c0007t0064g0319 a0007c0012t0001g0281 a0009c0014t0005g0258 a0011c0018t0032g0014 a0012c0008t0003g0034	267	350	0.7629	-46	c.271 others(65): Show c.2715+1000_2715+1045delTATATATTATATATAAATATATTTTA TATAATATATTTATATATAT		RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	7/15						chr11	TogoVar
RSPH14_chr22_23054415_23146990	23130115	GAAAGAAA others(39): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	312	0.0032	-46	c.421 others(63): Show c.421+3865_421+3910delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT		RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6						chr22	TogoVar
RYR2_chr1_237037184_237838988	237380359	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01261.hp1 HG03704.hp2 HG01256.hp1 HG01261.hp1 HG03704.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0013 a0001c0001 a0001c0002 a0003c0013	a0001c0001t0007 a0001c0002t0002 a0003c0013t0003 a0001c0001t0007 a0001c0002t0002 a0003c0013t0003	a0001c0001t0007g0082 a0001c0002t0002g0076 a0003c0013t0003g0086 a0001c0001t0007g0082 a0001c0002t0002g0076 a0003c0013t0003g0086	3	19	0.1579	-46	c.576 others(63): Show c.576+2942_576+2987delTATATATATATATATATATATATATATA TATATATATATATATATA		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	8/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
SAGSIN1_chr7_6324411_6353967	6331130	CGAGGGGC others(39): Show CGAGGGGCCCTCTTCTGTCCCTCATGCTTCGTGTTCTTGGATGCGGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0230 a0001c0001t0037g0230	1	418	0.0024	-46	c.39 others(53): Show c.39_*84delACCGCATCCAAGAACACGAAGCATGAGGGACAGAAGAG GGCCCCTC		SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding	2/2				39		chr7	TogoVar
SALL1_chr16_51130982_51156270	51153338	TTATTTTT others(39): Show TTATTTTTTTTTATTGGTATAACTTCTCCCTTCTCTCTCCCTGCTCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02615.hp2 HG02965.hp1 others(1): Show HG01884.hp2 HG02615.hp2 HG02965.hp1 NA18522.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0007 a0002c0005t0001g0007	4	372	0.0108	-46	c.-21 others(57): Show c.-2143_-2098delCGAGCAGGGAGAGAGAAGGGAGAAGTTATACCAA TAAAAAAAAATA		SALL1	ENSG00000103449.13	transcript	ENST00000251020.9	protein_coding					2069		chr16	TogoVar
SAMD12_chr8_118372984_118626963	118605765	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp2 HG01168.hp2 others(40): Show HG00408.hp2 HG00642.hp2 HG01168.hp2 HG01169.hp1 HG01358.hp2 HG01496.hp2 HG02055.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02698.hp1 HG02717.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG04228.hp2 NA18906.hp2 NA18964.hp2 NA19030.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0018 a0001c0001t0019 a0001c0002t0001 a0001c0002t0008 a0001c0003t0002 a0002c0004t0002	a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0046 others(40): Show a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0058 a0001c0001t0002g0063 a0001c0001t0003g0008 a0001c0001t0003g0042 a0001c0001t0003g0051 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0084 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0006g0043 a0001c0001t0006g0087 a0001c0001t0007g0007 a0001c0001t0007g0085 a0001c0001t0007g0086 a0001c0001t0007g0115 a0001c0001t0018g0089 a0001c0001t0019g0044 a0001c0002t0001g0048 a0001c0002t0001g0052 a0001c0002t0001g0064 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0098 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0008g0080 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0062 a0001c0003t0002g0068 a0001c0003t0002g0096 a0002c0004t0002g0047	43	44	0.9773	-46	c.13+ others(63): Show c.13+15993_13+16038delATATATATATATATATATATATATATAT ATATATATATATATATAT		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	1/3						chr8	TogoVar
SBK2_chr19_55523611_55542133	55527553	ACACATTC others(39): Show ACACATTCACACACATGTGCACACTCACGCACACACACATACTCATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0028 a0003c0003t0028	a0003c0003t0028g0218 a0003c0003t0028g0218	1	432	0.0023	-46	c.21 others(57): Show c.2134_*2179delCATGAGTATGTGTGTGTGCGTGAGTGTGCACATG TGTGTGAATGTG		SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding					1057		chr19	TogoVar
SBK2_chr19_55523611_55542133	55527568	TGTGCACA others(39): Show TGTGCACACTCACGCACACACACATACTCATGGACACACATGCACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0029 a0007c0009t0029	a0007c0009t0029g0127 a0007c0009t0029g0127	1	432	0.0023	-46	c.21 others(57): Show c.2119_*2164delGTGTGCATGTGTGTCCATGAGTATGTGTGTGTGC GTGAGTGTGCAC		SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding					1042		chr19	TogoVar
SCAF11_chr12_45914131_45995574	45972883	TATATATA others(39): Show TATATATATAGATATATATATATATAGATATATATATAGATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp2 HG03225.hp1 HG02559.hp2 HG03098.hp2 HG03225.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0007 a0001c0007t0001 a0001c0007t0007	a0001c0007t0001g0290 a0001c0007t0007g0302 a0001c0007t0007g0303 a0001c0007t0001g0290 a0001c0007t0007g0302 a0001c0007t0007g0303	3	342	0.0088	-46	c.-21 others(63): Show c.-21-8741_-21-8696delCTATATATCTATATATATATCTATATAT ATATATATCTATATATAT		SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	1/14						chr12	TogoVar
SCFD2_chr4_52867982_53371061	53237496	CGGGCGGC others(39): Show CGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCTCTCTCCCAGAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 NA18970.hp2 others(2): Show HG01243.hp2 HG01884.hp1 NA18970.hp2 NA19060.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0010 a0001c0001 a0001c0003 a0004c0010	a0001c0001t0001 a0001c0003t0003 a0004c0010t0001 a0001c0001t0001 a0001c0003t0003 a0004c0010t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0123 others(2): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0123 a0001c0003t0003g0062 a0004c0010t0001g0001	5	162	0.0309	-46	c.131 others(67): Show c.1311+36284_1311+36329delATCTGGGAGAGAGGTGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCC		SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8						chr4	TogoVar
SCN11A_chr3_38840764_39056944	38963378	TATATATA others(39): Show TATATATATGATGGAGATATATATATATATATATATATATGATGGAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01361.hp1 others(3): Show HG00140.hp1 HG00639.hp1 HG01361.hp1 NA18959.hp2 NA18993.hp2 NA20752.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0002 a0003c0004 a0006c0023 a0001c0002 a0003c0004 a0006c0023	a0001c0002t0001 a0003c0004t0001 a0006c0023t0004 a0001c0002t0001 a0003c0004t0001 a0006c0023t0004	a0001c0002t0001g0150 a0001c0002t0001g0157 a0001c0002t0001g0177 others(3): Show a0001c0002t0001g0150 a0001c0002t0001g0157 a0001c0002t0001g0177 a0001c0002t0001g0192 a0003c0004t0001g0213 a0006c0023t0004g0041	6	310	0.0194	-46	c.-27 others(65): Show c.-279-3001_-279-2956delCTCCATCATATATATATATATATATA TATATCTCCATCATATATAT		SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29						chr3	TogoVar
SCNN1A_chr12_6341847_6380563	6369294	TCACCTCC others(39): Show TCACCTCCCTCCTGCCACCCTACGCACCTCCCTCCTGCCACCCTACG	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02615.hp1 HG01192.hp2 HG02615.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0006 a0003c0003t0002 a0003c0003t0006	a0003c0003t0002g0041 a0003c0003t0006g0230 a0003c0003t0002g0041 a0003c0003t0006g0230	2	393	0.0051	-46	c.416 others(63): Show c.416+5028_416+5073delCGTAGGGTGGCAGGAGGGAGGTGCGTAG GGTGGCAGGAGGGAGGTG		SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	2/12						chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6369319	ACCTCCCT others(39): Show ACCTCCCTCCTGCCACCCTACGCACCTCCCTCCTGCCACCCTACGCG	A A	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18970.hp2 NA18994.hp2 others(5): Show NA18945.hp1 NA18970.hp2 NA18994.hp2 NA18998.hp1 NA19001.hp1 NA19010.hp1 NA19090.hp1 NA19090.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0009 others(1): Show a0001c0001 a0002c0002 a0004c0009 a0004c0012	a0001c0001t0001 a0002c0002t0001 a0004c0009t0003 others(1): Show a0001c0001t0001 a0002c0002t0001 a0004c0009t0003 a0004c0012t0003	a0001c0001t0001g0332 a0001c0001t0001g0337 a0002c0002t0001g0330 others(5): Show a0001c0001t0001g0332 a0001c0001t0001g0337 a0002c0002t0001g0330 a0002c0002t0001g0334 a0004c0009t0003g0335 a0004c0012t0003g0333 a0004c0012t0003g0336 a0004c0012t0003g0338	8	450	0.0178	-46	c.416 others(63): Show c.416+5003_416+5048delCGCGTAGGGTGGCAGGAGGGAGGTGCGT AGGGTGGCAGGAGGGAGG		SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	2/12						chr12	TogoVar
SCTR_chr2_119434843_119529483	119459294	ATTCAAAA others(39): Show ATTCAAAATTCTTCATAGAGAATGACCACAGCTATGTGAGGAAAAAC	A A	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0192 a0010c0010t0001g0192	1	288	0.0035	-46	c.790 others(63): Show c.790+2507_790+2552delGTTTTTCCTCACATAGCTGTGGTCATTC TCTATGAAGAATTTTGAA		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	7/12						chr2	TogoVar
SCT_chr11_621309_632181	628909	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	-46	c.-18 others(57): Show c.-1812_-1767delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA		SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding					1729		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43281409	CCTCAGCC others(39): Show CCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCATCT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0001 a0002c0027t0001	a0002c0027t0001g0252 a0002c0027t0001g0252	1	277	0.0036	-46	c.484 others(63): Show c.484+9591_484+9636delAGATGACAGGAGGGTGGCCAAGGGAGGT GACAGGAGGATGGCTGAG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281433	CCTTGGCC others(39): Show CCTTGGCCACCCTCCTGTCATCTCCCTCAGCCACCCTCCTGTCACCT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02922.hp1 NA19043.hp2 HG02622.hp1 HG02922.hp1 NA19043.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0006 a0002c0014 a0004c0028 a0001c0006 a0002c0014 a0004c0028	a0001c0006t0080 a0002c0014t0025 a0004c0028t0081 a0001c0006t0080 a0002c0014t0025 a0004c0028t0081	a0001c0006t0080g0273 a0002c0014t0025g0129 a0004c0028t0081g0274 a0001c0006t0080g0273 a0002c0014t0025g0129 a0004c0028t0081g0274	3	270	0.0111	-46	c.484 others(63): Show c.484+9567_484+9612delAGGTGACAGGAGGGTGGCTGAGGGAGAT GACAGGAGGGTGGCCAAG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339682	TCCCCCCA others(39): Show TCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTA	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0181 a0002c0005t0001g0181	1	270	0.0037	-46	c.89- others(59): Show c.89-493_89-448delTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCA ATGCTTGTGGGGGG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21						chr22	TogoVar
SDC2_chr8_96488813_96616790	96544577	CTGCTTTA others(39): Show CTGCTTTACACCACAGCCATTTGTCTTTATTATATTCCTCCCTACAA	C C	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0165 a0001c0003t0003g0165	1	332	0.0030	-46	c.61- others(63): Show c.61-48902_61-48857delTGCTTTACACCACAGCCATTTGTCTTTA TTATATTCCTCCCTACAA		SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4						chr8	TogoVar
SDC4_chr20_45320288_45353424	45345970	CCTGGGGT others(39): Show CCTGGGGTCCTGGATGCCCTCTACTAACCCAAAGTAGTACCATTTTA	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0063 a0002c0002t0003g0063	1	416	0.0024	-46	c.60+ others(61): Show c.60+2309_60+2354delTAAAATGGTACTACTTTGGGTTAGTAGAGG GCATCCAGGACCCCAG		SDC4	ENSG00000124145.6	transcript	ENST00000372733.3	protein_coding	1/4						chr20	TogoVar
SDK1_chr7_3296252_4274000	4089056	CCTCAGGT others(39): Show CCTCAGGTGGAGGTGAGACCCTCCCTCAGGCGGAGGTAAGACCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG02258.hp2 others(10): Show HG01109.hp2 HG02145.hp1 HG02258.hp2 HG02559.hp1 HG02622.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03139.hp1 HG03540.hp2 NA18906.hp2 NA19030.hp1	a0001 a0011 a0012 others(2): Show a0001 a0011 a0012 a0014 a0024	a0001c0002 a0001c0011 a0001c0017 others(8): Show a0001c0002 a0001c0011 a0001c0017 a0001c0067 a0001c0087 a0001c0091 a0001c0093 a0011c0022 a0012c0015 a0014c0085 a0024c0023	a0001c0002t0040 a0001c0011t0039 a0001c0017t0011 others(8): Show a0001c0002t0040 a0001c0011t0039 a0001c0017t0011 a0001c0067t0068 a0001c0087t0009 a0001c0091t0010 a0001c0093t0006 a0011c0022t0072 a0012c0015t0017 a0014c0085t0043 a0024c0023t0030	a0001c0002t0040g0084 a0001c0011t0039g0061 a0001c0017t0011g0051 others(10): Show a0001c0002t0040g0084 a0001c0011t0039g0061 a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0067t0068g0001 a0001c0087t0009g0054 a0001c0091t0010g0055 a0001c0093t0006g0053 a0011c0022t0072g0008 a0012c0015t0017g0059 a0012c0015t0017g0066 a0014c0085t0043g0010 a0024c0023t0030g0113	13	116	0.1121	-46	c.332 others(65): Show c.3324+9479_3324+9524delTGGAGGTGAGACCCTCCCTCAGGCGG AGGTAAGACCCTCTCTCAGG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73388735	CCCTTCCT others(39): Show CCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCCTCCCTCTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00438.hp1 others(60): Show HG00099.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01884.hp2 HG02056.hp1 HG02074.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02300.hp1 HG02559.hp1 HG02630.hp2 HG02683.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18948.hp2 NA18961.hp2 NA18970.hp2 NA19030.hp2 NA19080.hp1 NA20905.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0011 a0018 a0019	a0001c0002 a0001c0004 a0001c0005 others(40): Show a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0013 a0001c0014 a0001c0024 a0001c0025 a0001c0033 a0001c0035 a0001c0036 a0001c0043 a0001c0053 a0001c0064 a0001c0067 a0001c0071 a0001c0084 a0001c0089 a0001c0093 a0001c0094 a0001c0111 a0002c0028 a0002c0030 a0002c0059 a0002c0060 a0002c0061 a0002c0079 a0002c0102 a0002c0103 a0002c0105 a0004c0011 a0004c0027 a0004c0054 a0004c0066 a0004c0080 a0005c0065 a0006c0056 a0006c0097 a0011c0108 a0018c0076 a0019c0092	a0001c0002t0001 a0001c0004t0079 a0001c0005t0001 others(57): Show a0001c0002t0001 a0001c0004t0079 a0001c0005t0001 a0001c0005t0024 a0001c0006t0002 a0001c0006t0010 a0001c0006t0014 a0001c0006t0020 a0001c0007t0002 a0001c0007t0003 a0001c0007t0013 a0001c0010t0008 a0001c0010t0043 a0001c0013t0002 a0001c0013t0013 a0001c0013t0100 a0001c0013t0101 a0001c0014t0004 a0001c0014t0006 a0001c0014t0092 a0001c0024t0006 a0001c0024t0009 a0001c0025t0016 a0001c0033t0052 a0001c0035t0056 a0001c0036t0029 a0001c0043t0033 a0001c0053t0022 a0001c0064t0031 a0001c0067t0014 a0001c0071t0071 a0001c0084t0088 a0001c0089t0055 a0001c0093t0007 a0001c0094t0005 a0001c0111t0001 a0002c0028t0060 a0002c0030t0015 a0002c0059t0063 a0002c0060t0021 a0002c0061t0002 a0002c0079t0002 a0002c0102t0021 a0002c0103t0097 a0002c0105t0021 a0004c0011t0010 a0004c0011t0011 a0004c0011t0018 a0004c0011t0091 a0004c0027t0011 a0004c0027t0024 a0004c0054t0022 a0004c0066t0018 a0004c0080t0054 a0005c0065t0013 a0006c0056t0002 a0006c0097t0070 a0011c0108t0040 a0018c0076t0034 a0019c0092t0007	a0001c0002t0001g0048 a0001c0004t0079g0142 a0001c0005t0001g0053 others(60): Show a0001c0002t0001g0048 a0001c0004t0079g0142 a0001c0005t0001g0053 a0001c0005t0024g0189 a0001c0006t0002g0078 a0001c0006t0010g0133 a0001c0006t0014g0201 a0001c0006t0020g0202 a0001c0007t0002g0044 a0001c0007t0003g0014 a0001c0007t0003g0026 a0001c0007t0003g0028 a0001c0007t0013g0092 a0001c0010t0008g0059 a0001c0010t0043g0070 a0001c0013t0002g0198 a0001c0013t0013g0193 a0001c0013t0100g0011 a0001c0013t0101g0137 a0001c0014t0004g0171 a0001c0014t0006g0115 a0001c0014t0092g0083 a0001c0024t0006g0152 a0001c0024t0009g0186 a0001c0025t0016g0056 a0001c0025t0016g0180 a0001c0033t0052g0002 a0001c0035t0056g0066 a0001c0036t0029g0124 a0001c0043t0033g0003 a0001c0053t0022g0040 a0001c0064t0031g0161 a0001c0067t0014g0025 a0001c0071t0071g0093 a0001c0084t0088g0015 a0001c0089t0055g0175 a0001c0093t0007g0058 a0001c0094t0005g0090 a0001c0111t0001g0203 a0002c0028t0060g0018 a0002c0030t0015g0095 a0002c0059t0063g0145 a0002c0060t0021g0144 a0002c0061t0002g0159 a0002c0079t0002g0199 a0002c0102t0021g0055 a0002c0103t0097g0164 a0002c0105t0021g0149 a0004c0011t0010g0176 a0004c0011t0011g0060 a0004c0011t0018g0183 a0004c0011t0091g0105 a0004c0027t0011g0035 a0004c0027t0024g0033 a0004c0054t0022g0085 a0004c0066t0018g0031 a0004c0080t0054g0081 a0005c0065t0013g0067 a0006c0056t0002g0163 a0006c0097t0070g0049 a0011c0108t0040g0195 a0018c0076t0034g0020 a0019c0092t0007g0116	63	201	0.3134	-46	c.419 others(63): Show c.4193-744_4193-699delAAGGAAGGAGAGGGAGGGAAGGAAGGAA GGAGGGAGGGAAGGAAGG		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	29/44						chr17	TogoVar
SDK2_chr17_73329384_73649445	73412090	ATACGTAT others(39): Show ATACGTATATATGTATACGTATATATGTATACGTATATATGTGTATG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0045 a0003c0045	a0003c0045t0098 a0003c0045t0098	a0003c0045t0098g0197 a0003c0045t0098g0197	1	202	0.0050	-46	c.248 others(65): Show c.2484+2508_2484+2553delCATACACATATATACGTATACATATA TACGTATACATATATACGTA		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	18/44						chr17	TogoVar
SDR42E2_chr16_22157506_22196751	22158823	TGGAGGCA others(39): Show TGGAGGCATATGCCTGTAGTGCCAGCTACTCAGGAGGCTGAGGTGCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0137 a0003c0003t0001g0137	1	354	0.0028	-46	c.-37 others(57): Show c.-3777_-3732delGGAGGCATATGCCTGTAGTGCCAGCTACTCAGGA GGCTGAGGTGCA		SDR42E2	ENSG00000183921.8	transcript	ENST00000602312.3	protein_coding					3682		chr16	TogoVar
SELENOF_chr1_86857445_86919126	86883447	TTACACTA others(39): Show TTACACTAAATAGTGTATAGTGTATGTACACTAGTGTATAGTGTACG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	224	0.0045	-46	c.253 others(63): Show c.253-2768_253-2723delCGTACACTATACACTAGTGTACATACAC TATACACTATTTAGTGTA		SELENOF	ENSG00000183291.18	transcript	ENST00000331835.10	protein_coding	2/4						chr1	TogoVar
SELENOT_chr3_150598321_150635436	150634102	AGAGCAAG others(39): Show AGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAACAGCACACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 NA18965.hp1 NA19079.hp1 HG01074.hp2 NA18965.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0214 a0001c0001t0002g0219 a0001c0001t0002g0009 a0001c0001t0002g0214 a0001c0001t0002g0219	3	378	0.0079	-46	c.64 others(57): Show c.6474_*6519delGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAA AAACAGCACACC		SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding					3667		chr3	TogoVar
SEMA6C_chr1_151126707_151151631	151137324	TAGTCCCA others(39): Show TAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAGCC	T T	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0002 a0011c0013t0002	a0011c0013t0002g0056 a0011c0013t0002g0056	1	336	0.0030	-46	c.757 others(61): Show c.757-296_757-251delGGCTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGCAGCTGGGACT		SEMA6C	ENSG00000143434.17	transcript	ENST00000368914.8	protein_coding	10/18						chr1	TogoVar
SENP3_chr17_7556919_7576969	7571866	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp2 NA19011.hp1 HG02647.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0017 a0001c0001t0005g0047 a0001c0001t0001g0017 a0001c0001t0005g0047	2	443	0.0045	-46	c.39 others(55): Show c.391_*436delTATATATATATATATATATATATATATATATATATA AAAATATATA		SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11				391	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPHS1_chr10_13312428_13353293	13325900	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGACTCAGTCTC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp2 HG01358.hp2 others(29): Show HG01106.hp2 HG01109.hp2 HG01358.hp2 HG01361.hp1 HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02486.hp1 HG02572.hp1 HG02622.hp1 HG02717.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA19030.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0015 others(17): Show a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0005g0009 a0001c0001t0005g0054	32	376	0.0851	-46	c.751 others(63): Show c.751+2405_751+2450delGAGACTGAGTCTCTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT		SEPHS1	ENSG00000086475.15	transcript	ENST00000327347.10	protein_coding	7/8						chr10	TogoVar
SEPHS1_chr10_13312428_13353293	13325919	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAGAGACTCAGTCTCAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02559.hp2 others(10): Show HG02109.hp2 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02723.hp1 HG02809.hp2 HG02922.hp2 HG03130.hp2 HG03225.hp1 HG03516.hp2 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0042 others(5): Show a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0014g0263	13	376	0.0346	-46	c.751 others(63): Show c.751+2386_751+2431delATTTTTTTTTTTTTTTTTTGAGACTGAG TCTCTTTTTTTTTTTTTT		SEPHS1	ENSG00000086475.15	transcript	ENST00000327347.10	protein_coding	7/8						chr10	TogoVar
SERPINC1_chr1_173898800_173922327	173922156	ACCACATC others(39): Show ACCACATCCAGCCCCTGCAAGACTTTTAAAGCACTCCTCCCTCCCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	394	0.0025	-46	c.-49 others(57): Show c.-4943_-4898delCAGGGAGGGAGGAGTGCTTTAAAAGTCTTGCAGG GGCTGGATGTGG		SERPINC1	ENSG00000117601.15	transcript	ENST00000367698.4	protein_coding					4830		chr1	TogoVar
SFTPB_chr2_85652314_85673199	85666487	TGGGTGCT others(39): Show TGGGTGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTGGCTG	T T	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	424	0.0024	-46	c.393 others(60): Show c.393+84_393+129delCAGCCAGCCAGACACACACACACACACACAC ACACACACAGCACCC		SFTPB	ENSG00000168878.19	transcript	ENST00000519937.7	protein_coding	4/10						chr2	TogoVar
SGK3_chr8_66707781_66867022	66839498	GATATATA others(39): Show GATATATATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	53	0.0189	-46	c.742 others(61): Show c.742-490_742-445delATATATATATATATATATATATATATATAT ATATATATATATATAT		SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	10/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
SH2D4B_chr10_80532902_80651560	80572958	ATATATAT others(39): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02818.hp1 HG03209.hp1 HG01069.hp1 HG02818.hp1 HG03209.hp1	a0007 a0013 a0017 a0007 a0013 a0017	a0007c0015 a0013c0025 a0017c0026 a0007c0015 a0013c0025 a0017c0026	a0007c0015t0001 a0013c0025t0009 a0017c0026t0006 a0007c0015t0001 a0013c0025t0009 a0017c0026t0006	a0007c0015t0001g0306 a0013c0025t0009g0202 a0017c0026t0006g0203 a0007c0015t0001g0306 a0013c0025t0009g0202 a0017c0026t0006g0203	3	320	0.0094	-46	c.495 others(63): Show c.495+1382_495+1427delATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTT		SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
SH3BP4_chr2_234947017_235060714	234992632	CCCCTGGA others(39): Show CCCCTGGAGATGGACGCATTCCTGCTGCGTGGCTCTGGGTCTGGAGA	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0032 a0002c0001t0020g0032	1	345	0.0029	-46	c.-20 others(65): Show c.-206-2627_-206-2582delAGACCCTGGAGATGGACGCATTCCTG CTGCGTGGCTCTGGGTCTGG		SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3GL1_chr19_4355370_4405547	4381060	TCTCTGTC others(39): Show TCTCTGTCCCCCTGCCTCTCTCTGTCCCCTCTCTCTGTCCCCTTTGC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02818.hp2 HG02896.hp1 others(5): Show HG01167.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03225.hp1 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0004 a0001c0010t0019 a0001c0001t0001 a0001c0001t0004 a0001c0010t0019	a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0004g0310 others(5): Show a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0004g0310 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0320 a0001c0010t0019g0311	8	356	0.0225	-46	c.46- others(63): Show c.46-14112_46-14067delGCAAAGGGGACAGAGAGAGGGGACAGAG AGAGGCAGGGGGACAGAG		SH3GL1	ENSG00000141985.9	transcript	ENST00000269886.7	protein_coding	1/9						chr19	TogoVar
SH3PXD2A_chr10_103589027_103860576	103810907	GACACACA others(39): Show GACACACACACACGGAGACACACACATGGACACAGGCGCGCGCGCGC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0044 a0001c0003t0032g0044	1	246	0.0041	-46	c.73- others(61): Show c.73-9591_73-9546delGCGCGCGCGCGCCTGTGTCCATGTGTGTGT CTCCGTGTGTGTGTGT		SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14						chr10	TogoVar
SH3RF2_chr5_145931578_146068292	146064658	GAGAAAGA others(39): Show GAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02622.hp1 NA18747.hp1 others(2): Show HG02027.hp1 HG02622.hp1 NA18747.hp1 NA18989.hp1 NA19057.hp1	a0002 a0019 a0002 a0019	a0002c0002 a0019c0027 a0002c0002 a0019c0027	a0002c0002t0001 a0019c0027t0001 a0002c0002t0001 a0019c0027t0001	a0002c0002t0001g0072 a0002c0002t0001g0138 a0002c0002t0001g0166 others(2): Show a0002c0002t0001g0072 a0002c0002t0001g0138 a0002c0002t0001g0166 a0002c0002t0001g0264 a0019c0027t0001g0013	5	251	0.0199	-46	c.19 others(57): Show c.1958_*2003delAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAA		SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding					1367		chr5	TogoVar
SHCBP1L_chr1_182894865_182958166	182927050	CTATATAT others(39): Show CTATATATATATATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02965.hp1 HG02976.hp1 others(2): Show HG02622.hp1 HG02965.hp1 HG02976.hp1 HG03486.hp1 HG03516.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0052 a0003c0008t0001g0053 a0003c0008t0001g0054 others(2): Show a0003c0008t0001g0052 a0003c0008t0001g0053 a0003c0008t0001g0054 a0003c0008t0001g0055 a0003c0008t0001g0064	5	13	0.3846	-46	c.118 others(65): Show c.1182+2551_1182+2596delTATATATATATATATATATATATATA TATATATATATATATATATA		SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9						chr1	TogoVar
SHISA8_chr22_41904543_41920074	41908806	GTCACACA others(39): Show GTCACACACCTCAACCAGCCACAGCCCTGGCCCCTAGCCTCCCCACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	316	0.0032	-46	c.91 others(55): Show c.913_*958delTGTGGGGAGGCTAGGGGCCAGGGCTGTGGCTGGTTG AGGTGTGTGA		SHISA8	ENSG00000234965.3	transcript	ENST00000621082.2	protein_coding					736		chr22	TogoVar
SIGIRR_chr11_400716_419999	401104	GGCCCCGC others(39): Show GGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0094 a0001c0006t0001g0094	1	234	0.0043	-46	c.47 others(57): Show c.4746_*4791delAGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGG TGTGAGCGGGGC		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					4611		chr11	TogoVar
SIGIRR_chr11_400716_419999	401320	GGCCCGCT others(39): Show GGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	236	0.0042	-46	c.45 others(57): Show c.4530_*4575delGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGG GTGTGAGCGGGC		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					4395		chr11	TogoVar
SIGIRR_chr11_400716_419999	401438	ACACCCGC others(39): Show ACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18980.hp2 NA19066.hp2 NA18522.hp1 NA18980.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0165 a0001c0001t0001g0196 a0001c0001t0001g0001 a0001c0001t0001g0165 a0001c0001t0001g0196	3	239	0.0126	-46	c.44 others(57): Show c.4412_*4457delGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGA GCGGGGCGGGTG		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					4277		chr11	TogoVar
SIM1_chr6_100380009_100469921	100412591	GAAAGAAA others(39): Show GAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAGGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02056.hp1 HG02155.hp2 others(3): Show HG00642.hp2 HG02056.hp1 HG02155.hp2 HG03704.hp2 NA18967.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0002t0007 a0002c0005t0065 a0002c0002t0001 a0002c0002t0007 a0002c0005t0065	a0002c0002t0001g0037 a0002c0002t0001g0199 a0002c0002t0001g0237 others(3): Show a0002c0002t0001g0037 a0002c0002t0001g0199 a0002c0002t0001g0237 a0002c0002t0001g0311 a0002c0002t0007g0197 a0002c0005t0065g0116	6	315	0.0190	-46	c.116 others(65): Show c.1167+8153_1167+8198delTCTTTCTTTCTTTCCTTCTTTCTTTC CTTTCTTTCTTTCTTTCTTT		SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11						chr6	TogoVar
SLBP_chr4_1687731_1717319	1707225	CAAAAAAA others(39): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01884.hp1 HG02717.hp2 others(2): Show HG00735.hp1 HG01884.hp1 HG02717.hp2 HG03831.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0202 a0001c0001t0001g0256 a0001c0001t0001g0258 others(2): Show a0001c0001t0001g0202 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0003g0174 a0001c0001t0003g0185	5	6	0.8333	-46	c.177 others(63): Show c.177-3571_177-3526delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT		SLBP	ENSG00000163950.13	transcript	ENST00000489418.6	protein_coding	2/7						chr4	TogoVar
SLC1A7_chr1_53082183_53147638	53101289	ACCTCGGT others(39): Show ACCTCGGTACACTCGCACACCCCACCTCGGTACACTCACACACCCCT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00544.hp2 others(72): Show HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00642.hp2 HG00735.hp2 HG01074.hp1 HG01109.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01261.hp1 HG01433.hp1 HG02080.hp1 HG02109.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp2 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02818.hp2 HG02895.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03831.hp2 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18951.hp1 NA18952.hp1 NA18956.hp1 NA18956.hp2 NA18962.hp1 NA18968.hp2 NA18971.hp1 NA18980.hp2 NA18985.hp2 NA18986.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19078.hp1 NA19079.hp1 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0001c0003 a0001c0006 others(7): Show a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0011 a0001c0012 a0001c0015 a0001c0019 a0001c0020 a0008c0029	a0001c0002t0001 a0001c0002t0003 a0001c0002t0010 others(15): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0010 a0001c0002t0019 a0001c0003t0005 a0001c0006t0001 a0001c0006t0006 a0001c0006t0014 a0001c0007t0004 a0001c0007t0017 a0001c0007t0021 a0001c0011t0004 a0001c0011t0026 a0001c0012t0001 a0001c0015t0004 a0001c0019t0001 a0001c0020t0001 a0008c0029t0004	a0001c0002t0001g0170 a0001c0002t0001g0321 a0001c0002t0001g0336 others(64): Show a0001c0002t0001g0170 a0001c0002t0001g0321 a0001c0002t0001g0336 a0001c0002t0001g0339 a0001c0002t0003g0165 a0001c0002t0003g0229 a0001c0002t0010g0062 a0001c0002t0010g0322 a0001c0002t0019g0164 a0001c0003t0005g0049 a0001c0003t0005g0058 a0001c0003t0005g0061 a0001c0003t0005g0166 a0001c0003t0005g0168 a0001c0003t0005g0176 a0001c0003t0005g0187 a0001c0003t0005g0307 a0001c0003t0005g0323 a0001c0006t0001g0003 a0001c0006t0001g0005 a0001c0006t0001g0057 a0001c0006t0001g0075 a0001c0006t0001g0162 a0001c0006t0001g0173 a0001c0006t0001g0179 a0001c0006t0001g0204 a0001c0006t0001g0206 a0001c0006t0001g0212 a0001c0006t0001g0214 a0001c0006t0001g0231 a0001c0006t0001g0232 a0001c0006t0006g0344 a0001c0006t0006g0345 a0001c0006t0006g0347 a0001c0006t0014g0056 a0001c0007t0004g0010 a0001c0007t0004g0027 a0001c0007t0004g0040 a0001c0007t0004g0055 a0001c0007t0004g0071 a0001c0007t0004g0072 a0001c0007t0004g0088 a0001c0007t0004g0131 a0001c0007t0004g0132 a0001c0007t0004g0142 a0001c0007t0004g0178 a0001c0007t0004g0182 a0001c0007t0004g0245 a0001c0007t0004g0246 a0001c0007t0004g0279 a0001c0007t0004g0340 a0001c0007t0004g0341 a0001c0007t0017g0070 a0001c0007t0021g0350 a0001c0011t0004g0093 a0001c0011t0004g0254 a0001c0011t0004g0276 a0001c0011t0004g0280 a0001c0011t0026g0361 a0001c0012t0001g0011 a0001c0012t0001g0076 a0001c0012t0001g0198 a0001c0015t0004g0008 a0001c0015t0004g0303 a0001c0019t0001g0242 a0001c0020t0001g0292 a0008c0029t0004g0301	75	398	0.1884	-46	c.697 others(63): Show c.697+2011_697+2056delAGGGGTGTGTGAGTGTACCGAGGTGGGG TGTGCGAGTGTACCGAGG		SLC1A7	ENSG00000162383.13	transcript	ENST00000371494.9	protein_coding	5/10						chr1	TogoVar
SLC24A4_chr14_92318165_92506481	92474692	TGTATATA others(39): Show TGTATATATACGTGTGTGTATATATATATACACACACGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(230): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18985.hp2 NA18995.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009	a0001c0001 a0001c0002 a0001c0003 others(28): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0020 a0001c0021 a0001c0026 a0001c0029 a0001c0030 a0001c0034 a0001c0036 a0002c0007 a0002c0011 a0002c0031 a0003c0013 a0004c0027 a0004c0032 a0004c0039 a0005c0028 a0006c0024 a0007c0023 a0009c0040	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(148): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0001t0040 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0053 a0001c0001t0058 a0001c0001t0068 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0075 a0001c0001t0076 a0001c0001t0078 a0001c0001t0082 a0001c0001t0086 a0001c0001t0088 a0001c0001t0089 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0102 a0001c0001t0110 a0001c0001t0114 a0001c0001t0116 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0011 a0001c0002t0012 a0001c0002t0018 a0001c0002t0019 a0001c0002t0022 a0001c0002t0024 a0001c0002t0032 a0001c0002t0035 a0001c0002t0036 a0001c0002t0046 a0001c0002t0051 a0001c0002t0054 a0001c0002t0057 a0001c0002t0059 a0001c0002t0061 a0001c0002t0062 a0001c0002t0070 a0001c0002t0079 a0001c0002t0090 a0001c0002t0091 a0001c0002t0095 a0001c0002t0107 a0001c0003t0002 a0001c0003t0005 a0001c0003t0006 a0001c0003t0009 a0001c0003t0011 a0001c0003t0015 a0001c0003t0019 a0001c0003t0021 a0001c0003t0026 a0001c0003t0039 a0001c0003t0050 a0001c0003t0052 a0001c0003t0087 a0001c0003t0099 a0001c0003t0101 a0001c0003t0117 a0001c0004t0002 a0001c0004t0003 a0001c0004t0007 a0001c0004t0011 a0001c0004t0015 a0001c0004t0016 a0001c0004t0030 a0001c0004t0055 a0001c0004t0060 a0001c0004t0077 a0001c0004t0081 a0001c0004t0083 a0001c0004t0104 a0001c0004t0105 a0001c0008t0004 a0001c0008t0005 a0001c0008t0042 a0001c0008t0112 a0001c0009t0031 a0001c0009t0041 a0001c0009t0065 a0001c0009t0115 a0001c0010t0005 a0001c0010t0009 a0001c0010t0064 a0001c0010t0085 a0001c0012t0006 a0001c0012t0022 a0001c0012t0039 a0001c0012t0100 a0001c0014t0006 a0001c0015t0006 a0001c0015t0025 a0001c0016t0025 a0001c0017t0002 a0001c0017t0007 a0001c0018t0113 a0001c0020t0040 a0001c0021t0067 a0001c0026t0025 a0001c0029t0093 a0001c0030t0001 a0001c0034t0108 a0001c0036t0041 a0002c0007t0029 a0002c0011t0010 a0002c0011t0029 a0002c0011t0080 a0002c0011t0084 a0002c0031t0010 a0003c0013t0002 a0003c0013t0009 a0003c0013t0043 a0004c0027t0002 a0004c0032t0118 a0004c0039t0094 a0005c0028t0002 a0006c0024t0001 a0007c0023t0002 a0009c0040t0056	a0001c0001t0001g0022 a0001c0001t0001g0205 a0001c0001t0001g0210 others(228): Show a0001c0001t0001g0022 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0243 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0003g0212 a0001c0001t0003g0239 a0001c0001t0003g0273 a0001c0001t0004g0066 a0001c0001t0004g0133 a0001c0001t0004g0165 a0001c0001t0004g0267 a0001c0001t0005g0073 a0001c0001t0005g0077 a0001c0001t0005g0089 a0001c0001t0005g0093 a0001c0001t0005g0115 a0001c0001t0005g0123 a0001c0001t0005g0131 a0001c0001t0006g0014 a0001c0001t0006g0043 a0001c0001t0007g0177 a0001c0001t0007g0182 a0001c0001t0007g0185 a0001c0001t0007g0202 a0001c0001t0007g0203 a0001c0001t0009g0020 a0001c0001t0009g0164 a0001c0001t0009g0173 a0001c0001t0010g0255 a0001c0001t0012g0095 a0001c0001t0012g0112 a0001c0001t0012g0118 a0001c0001t0012g0129 a0001c0001t0012g0130 a0001c0001t0013g0023 a0001c0001t0015g0064 a0001c0001t0015g0065 a0001c0001t0015g0254 a0001c0001t0016g0104 a0001c0001t0016g0108 a0001c0001t0017g0145 a0001c0001t0017g0147 a0001c0001t0017g0148 a0001c0001t0017g0155 a0001c0001t0018g0197 a0001c0001t0018g0242 a0001c0001t0019g0184 a0001c0001t0021g0146 a0001c0001t0030g0244 a0001c0001t0033g0126 a0001c0001t0034g0074 a0001c0001t0034g0091 a0001c0001t0037g0151 a0001c0001t0037g0153 a0001c0001t0040g0005 a0001c0001t0044g0178 a0001c0001t0045g0176 a0001c0001t0047g0206 a0001c0001t0048g0191 a0001c0001t0049g0180 a0001c0001t0053g0264 a0001c0001t0058g0199 a0001c0001t0068g0229 a0001c0001t0071g0271 a0001c0001t0072g0266 a0001c0001t0073g0228 a0001c0001t0075g0111 a0001c0001t0076g0100 a0001c0001t0078g0090 a0001c0001t0082g0128 a0001c0001t0086g0122 a0001c0001t0088g0124 a0001c0001t0089g0062 a0001c0001t0096g0149 a0001c0001t0097g0137 a0001c0001t0098g0134 a0001c0001t0102g0278 a0001c0001t0110g0013 a0001c0001t0114g0156 a0001c0001t0116g0041 a0001c0002t0001g0057 a0001c0002t0001g0198 a0001c0002t0001g0253 a0001c0002t0002g0003 a0001c0002t0002g0187 a0001c0002t0002g0204 a0001c0002t0002g0231 a0001c0002t0002g0272 a0001c0002t0003g0200 a0001c0002t0003g0238 a0001c0002t0004g0190 a0001c0002t0004g0217 a0001c0002t0004g0226 a0001c0002t0004g0227 a0001c0002t0004g0232 a0001c0002t0004g0233 a0001c0002t0004g0268 a0001c0002t0005g0092 a0001c0002t0005g0101 a0001c0002t0006g0045 a0001c0002t0006g0046 a0001c0002t0007g0069 a0001c0002t0007g0269 a0001c0002t0011g0102 a0001c0002t0011g0114 a0001c0002t0011g0120 a0001c0002t0012g0097 a0001c0002t0012g0105 a0001c0002t0018g0216 a0001c0002t0019g0181 a0001c0002t0022g0038 a0001c0002t0022g0047 a0001c0002t0024g0136 a0001c0002t0032g0117 a0001c0002t0032g0121 a0001c0002t0035g0079 a0001c0002t0035g0125 a0001c0002t0036g0208 a0001c0002t0036g0211 a0001c0002t0046g0183 a0001c0002t0051g0070 a0001c0002t0054g0159 a0001c0002t0057g0021 a0001c0002t0059g0219 a0001c0002t0061g0175 a0001c0002t0062g0061 a0001c0002t0070g0166 a0001c0002t0079g0107 a0001c0002t0090g0207 a0001c0002t0091g0201 a0001c0002t0095g0006 a0001c0002t0107g0044 a0001c0003t0002g0067 a0001c0003t0002g0189 a0001c0003t0005g0109 a0001c0003t0006g0002 a0001c0003t0006g0152 a0001c0003t0006g0154 a0001c0003t0009g0246 a0001c0003t0011g0078 a0001c0003t0011g0103 a0001c0003t0015g0063 a0001c0003t0019g0188 a0001c0003t0021g0138 a0001c0003t0021g0143 a0001c0003t0026g0179 a0001c0003t0026g0224 a0001c0003t0039g0139 a0001c0003t0050g0225 a0001c0003t0052g0247 a0001c0003t0087g0085 a0001c0003t0099g0140 a0001c0003t0101g0135 a0001c0003t0117g0142 a0001c0004t0002g0161 a0001c0004t0003g0071 a0001c0004t0003g0072 a0001c0004t0003g0194 a0001c0004t0003g0196 a0001c0004t0003g0209 a0001c0004t0003g0218 a0001c0004t0003g0220 a0001c0004t0003g0222 a0001c0004t0007g0236 a0001c0004t0011g0113 a0001c0004t0015g0277 a0001c0004t0016g0110 a0001c0004t0016g0279 a0001c0004t0030g0160 a0001c0004t0055g0270 a0001c0004t0060g0214 a0001c0004t0077g0083 a0001c0004t0081g0086 a0001c0004t0083g0096 a0001c0004t0104g0141 a0001c0004t0105g0144 a0001c0008t0004g0157 a0001c0008t0005g0075 a0001c0008t0042g0167 a0001c0008t0112g0016 a0001c0009t0031g0240 a0001c0009t0031g0241 a0001c0009t0041g0048 a0001c0009t0065g0262 a0001c0009t0115g0049 a0001c0010t0005g0076 a0001c0010t0009g0059 a0001c0010t0009g0060 a0001c0010t0064g0274 a0001c0010t0085g0098 a0001c0012t0006g0050 a0001c0012t0022g0028 a0001c0012t0039g0051 a0001c0012t0100g0031 a0001c0014t0006g0034 a0001c0015t0006g0036 a0001c0015t0006g0037 a0001c0015t0025g0027 a0001c0016t0025g0039 a0001c0017t0002g0265 a0001c0017t0007g0068 a0001c0018t0113g0056 a0001c0020t0040g0008 a0001c0021t0067g0058 a0001c0026t0025g0017 a0001c0029t0093g0018 a0001c0030t0001g0162 a0001c0034t0108g0029 a0001c0036t0041g0054 a0002c0007t0029g0195 a0002c0011t0010g0174 a0002c0011t0029g0223 a0002c0011t0080g0106 a0002c0011t0084g0099 a0002c0031t0010g0257 a0003c0013t0002g0275 a0003c0013t0009g0221 a0003c0013t0043g0276 a0004c0027t0002g0230 a0004c0032t0118g0040 a0004c0039t0094g0007 a0005c0028t0002g0259 a0006c0024t0001g0186 a0007c0023t0002g0237 a0009c0040t0056g0193	233	280	0.8321	-46	c.125 others(65): Show c.1256-7964_1256-7919delTATATACACACACGTATATATACGTA TATATACGTGTGTGTATATA		SLC24A4	ENSG00000140090.18	transcript	ENST00000532405.6	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr14	TogoVar
SLC25A15_chr13_40784611_40817460	40809571	ACCTACTA others(39): Show ACCTACTATGATTCGAGCATTCCCTGCCAATGGAGCACTCTTTTTGG	A A	frameshift_variant frameshift_variant	HIGH	HG02922.hp1 HG02922.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0001 a0005c0008t0001g0001	1	414	0.0024	-46	c.816 others(53): Show c.816_861delTATGATTCGAGCATTCCCTGCCAATGGAGCACTCTTTT TGGCCTAC	p.Met others(5): Show p.Met273fs	SLC25A15	ENSG00000102743.16	transcript	ENST00000338625.9	protein_coding	7/7	938/3821	816/906	272/301		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC25A18_chr22_17558498_17595995	17561754	CATGTGCT others(39): Show CATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG03209.hp1 HG02965.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0021 a0001c0001t0004g0022	2	408	0.0049	-46	c.-22 others(57): Show c.-2222_-2177delATGTGCTGTGTCCACTCAGGGTTAAATGGATTAA GGGCGGTGCAAG		SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding					1743		chr22	TogoVar
SLC25A37_chr8_23523956_23580463	23546564	ATATATAT others(39): Show ATATATATATATATATATAGTGTATATATATATAGTGTATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01884.hp1 HG01891.hp2 others(26): Show HG00738.hp2 HG01884.hp1 HG01891.hp2 HG02257.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19084.hp1 NA20129.hp2 NA21309.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0001c0009 a0003c0004 others(2): Show a0001c0001 a0001c0009 a0003c0004 a0005c0012 a0006c0010	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(13): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0032 a0001c0001t0034 a0001c0001t0058 a0001c0009t0065 a0003c0004t0025 a0005c0012t0001 a0006c0010t0027	a0001c0001t0001g0099 a0001c0001t0001g0244 a0001c0001t0001g0262 others(24): Show a0001c0001t0001g0099 a0001c0001t0001g0244 a0001c0001t0001g0262 a0001c0001t0006g0144 a0001c0001t0008g0004 a0001c0001t0008g0237 a0001c0001t0011g0014 a0001c0001t0011g0096 a0001c0001t0011g0098 a0001c0001t0011g0169 a0001c0001t0011g0238 a0001c0001t0011g0240 a0001c0001t0017g0029 a0001c0001t0017g0097 a0001c0001t0019g0181 a0001c0001t0021g0046 a0001c0001t0021g0165 a0001c0001t0022g0236 a0001c0001t0022g0293 a0001c0001t0024g0004 a0001c0001t0032g0239 a0001c0001t0034g0101 a0001c0001t0058g0261 a0001c0009t0065g0259 a0003c0004t0025g0078 a0005c0012t0001g0063 a0006c0010t0027g0064	29	403	0.0720	-46	c.210 others(65): Show c.210+17354_210+17399delATATATATATATATATAGTGTATATA TATATAGTGTATGTGTGTGT		SLC25A37	ENSG00000147454.14	transcript	ENST00000519973.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr8	TogoVar

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