Joint Open Genome and Omics Platform (JoGo)

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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
SEC14L1_chr17_77135969_77222101	77215762	AGTAGGTA others(19): Show AGTAGGTAGGGCTAGTAGGTAGGGTTC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18959.hp2 NA19010.hp1 NA18959.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0255 a0001c0001t0033g0280 a0001c0001t0033g0255 a0001c0001t0033g0280	2	430	0.0047	-26	c.17 others(37): Show c.1750_*1775delCTAGTAGGTAGGGTTCGTAGGTAGGG	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17	1750	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77216084	AGTAGGTA others(19): Show AGTAGGTAGGGCTAGTAGGTAGGGTTC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp1 HG01884.hp2 HG02109.hp2 others(9): Show HG01255.hp1 HG01884.hp2 HG02109.hp2 HG02451.hp1 HG02965.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG03540.hp2 NA18522.hp2 NA19043.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0009 a0001c0001t0019 a0001c0001t0041 others(1): Show a0001c0001t0009 a0001c0001t0019 a0001c0001t0041 a0002c0004t0060	a0001c0001t0009g0003 a0001c0001t0009g0051 a0001c0001t0009g0052 others(8): Show a0001c0001t0009g0003 a0001c0001t0009g0051 a0001c0001t0009g0052 a0001c0001t0009g0054 a0001c0001t0009g0056 a0001c0001t0009g0057 a0001c0001t0019g0053 a0001c0001t0019g0107 a0001c0001t0019g0108 a0001c0001t0041g0109 a0002c0004t0060g0187	12	430	0.0279	-26	c.20 others(37): Show c.2072_*2097delCTAGTAGGTAGGGTTCGTAGGTAGGG	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17	2072	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77216147	TTCGTAGG others(19): Show TTCGTAGGTAGGGTTCGTAGGTAGGGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00642.hp2 others(60): Show HG00140.hp1 HG00408.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp2 HG01099.hp1 HG01106.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01934.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02300.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG03239.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04228.hp2 HG06807.hp2 NA18941.hp1 NA18947.hp1 NA18952.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18993.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19056.hp2 NA19057.hp1 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0033 a0001c0001t0035 others(6): Show a0001c0001t0001 a0001c0001t0033 a0001c0001t0035 a0001c0001t0067 a0001c0001t0068 a0001c0001t0071 a0001c0003t0001 a0001c0003t0020 a0001c0003t0038	a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0211 others(58): Show a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0211 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0033g0255 a0001c0001t0033g0280 a0001c0001t0035g0011 a0001c0001t0067g0246 a0001c0001t0068g0248 a0001c0001t0071g0244 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0188 a0001c0003t0001g0233 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0239 a0001c0003t0001g0251 a0001c0003t0001g0257 a0001c0003t0001g0259 a0001c0003t0001g0260 a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0001g0265 a0001c0003t0001g0266 a0001c0003t0001g0268 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0271 a0001c0003t0001g0272 a0001c0003t0001g0282 a0001c0003t0020g0028 a0001c0003t0020g0029 a0001c0003t0020g0264 a0001c0003t0038g0228	63	430	0.1465	-26	c.21 others(37): Show c.2126_*2151delCGTAGGTAGGGTTCGTAGGTAGGGCT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17	2126	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77216149	CGTAGGTA others(19): Show CGTAGGTAGGGTTCGTAGGTAGGGCTA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0013 a0013	a0013c0010 a0013c0010	a0013c0010t0039 a0013c0010t0039	a0013c0010t0039g0412 a0013c0010t0039g0412	1	430	0.0023	-26	c.21 others(37): Show c.2139_*2164delCGTAGGTAGGGCTAGTAGGTAGGGTT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17	2139	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77216383	AGTAGGTA others(19): Show AGTAGGTAGGGCTAGTAGGTAGGGTTC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00423.hp2 others(82): Show HG00140.hp1 HG00408.hp1 HG00423.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp2 HG01099.hp1 HG01106.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02300.hp1 HG02451.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18941.hp1 NA18947.hp1 NA18952.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18971.hp1 NA18981.hp2 NA18993.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA19090.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0009 a0001c0001t0019 others(15): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0019 a0001c0001t0033 a0001c0001t0035 a0001c0001t0041 a0001c0001t0059 a0001c0001t0064 a0001c0001t0067 a0001c0001t0068 a0001c0001t0071 a0001c0002t0014 a0001c0003t0001 a0001c0003t0020 a0001c0003t0023 a0001c0003t0034 a0001c0003t0038 a0002c0004t0060	a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0211 others(79): Show a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0211 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0009g0003 a0001c0001t0009g0051 a0001c0001t0009g0052 a0001c0001t0009g0054 a0001c0001t0009g0056 a0001c0001t0009g0057 a0001c0001t0019g0053 a0001c0001t0019g0107 a0001c0001t0019g0108 a0001c0001t0033g0255 a0001c0001t0033g0280 a0001c0001t0035g0011 a0001c0001t0041g0109 a0001c0001t0059g0390 a0001c0001t0064g0055 a0001c0001t0067g0246 a0001c0001t0068g0248 a0001c0001t0071g0244 a0001c0002t0014g0314 a0001c0002t0014g0317 a0001c0002t0014g0358 a0001c0002t0014g0359 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0188 a0001c0003t0001g0233 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0239 a0001c0003t0001g0251 a0001c0003t0001g0257 a0001c0003t0001g0259 a0001c0003t0001g0260 a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0001g0265 a0001c0003t0001g0266 a0001c0003t0001g0268 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0271 a0001c0003t0001g0272 a0001c0003t0001g0282 a0001c0003t0020g0028 a0001c0003t0020g0029 a0001c0003t0020g0264 a0001c0003t0023g0030 a0001c0003t0023g0267 a0001c0003t0034g0247 a0001c0003t0034g0250 a0001c0003t0038g0228 a0002c0004t0060g0187	85	430	0.1977	-26	c.23 others(37): Show c.2371_*2396delCTAGTAGGTAGGGTTCGTAGGTAGGG	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17	2371	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77216396	AGTAGGTA others(19): Show AGTAGGTAGGGTTCGTAGGTAGGGTTC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 NA19079.hp2 HG00099.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0199 a0001c0001t0025g0392 a0001c0001t0025g0199 a0001c0001t0025g0392	2	430	0.0047	-26	c.23 others(37): Show c.2399_*2424delCGTAGGTAGGGTTCGTAGGTAGGGTT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17	2399	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L3_chr22_30454229_30477017	30454918	ATATTATA others(19): Show ATATTATATAATAGATATATAATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02080.hp2 HG02132.hp2 others(2): Show HG02040.hp2 HG02080.hp2 HG02132.hp2 HG03471.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 others(2): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0157	5	454	0.0110	-26	c.50 others(37): Show c.5077_*5102delATATATTATATATCTATTATATAATA	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4310		chr22	TogoVar
SEC23A_chr14_39026919_39108235	39094389	CACACACA others(19): Show CACACACACATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	366	0.0027	-26	c.222 others(43): Show c.222-1171_222-1146delATATATATATATATATATGTGTGTGT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094391	CACACACA others(19): Show CACACACATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02630.hp1 NA20805.hp2 HG01167.hp1 HG02630.hp1 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0173 a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0173	3	366	0.0082	-26	c.222 others(43): Show c.222-1173_222-1148delATATATATATATATATATATGTGTGT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094424	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG03225.hp1 others(1): Show HG02258.hp2 HG02451.hp1 HG03225.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0345 a0001c0001t0003g0361 a0001c0001t0003g0362 others(1): Show a0001c0001t0001g0345 a0001c0001t0003g0361 a0001c0001t0003g0362 a0002c0002t0001g0005	4	366	0.0109	-26	c.222 others(43): Show c.222-1206_222-1181delAAAAAAAATATATATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC31A_chr4_82813509_82896153	82865536	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG00621.hp2 others(46): Show HG00423.hp2 HG00609.hp1 HG00621.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01891.hp1 HG02040.hp2 HG02074.hp1 HG02109.hp1 HG02280.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18941.hp1 NA18943.hp1 NA18952.hp1 NA18973.hp2 NA18981.hp1 NA18985.hp1 NA18993.hp1 NA19003.hp1 NA19007.hp1 NA19012.hp2 NA19054.hp1 NA19058.hp1 NA19072.hp2 NA19091.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0002c0004 others(2): Show a0001c0001 a0001c0005 a0002c0004 a0004c0015 a0004c0016	a0001c0001t0001 a0001c0005t0001 a0002c0004t0001 others(2): Show a0001c0001t0001 a0001c0005t0001 a0002c0004t0001 a0004c0015t0001 a0004c0016t0001	a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0031 others(45): Show a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0117 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0005t0001g0111 a0001c0005t0001g0318 a0001c0005t0001g0320 a0002c0004t0001g0312 a0002c0004t0001g0313 a0002c0004t0001g0314 a0002c0004t0001g0315 a0002c0004t0001g0322 a0002c0004t0001g0323 a0004c0015t0001g0309 a0004c0016t0001g0307	49	328	0.1494	-26	c.119 others(43): Show c.1198-964_1198-939delTATATATATATATATATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	10/26			chr4	TogoVar
SELENOT_chr3_150598321_150635436	150634891	AGCCTGGG others(19): Show AGCCTGGGCGACAGGGCAAGACTCCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0050 a0001c0001t0009g0050	1	380	0.0026	-26	c.72 others(37): Show c.7263_*7288delGCCTGGGCGACAGGGCAAGACTCCGT	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding		4456		chr3	TogoVar
SEMA3A_chr7_83950777_84199789	84091192	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02258.hp1 HG02451.hp1 others(2): Show HG02155.hp2 HG02258.hp1 HG02451.hp1 HG04115.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0002t0038 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0038 a0001c0003t0006 a0001c0003t0012	a0001c0001t0001g0112 a0001c0002t0002g0042 a0001c0002t0038g0020 others(2): Show a0001c0001t0001g0112 a0001c0002t0002g0042 a0001c0002t0038g0020 a0001c0003t0006g0083 a0001c0003t0012g0154	5	276	0.0181	-26	c.453 others(45): Show c.453+19252_453+19277delTCTTTTCTTTCTTTCTTTCTTTCTTT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80750435	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19240.hp2 NA20905.hp1 HG02630.hp1 NA19240.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0001c0008 a0002c0018 a0001c0007 a0001c0008 a0002c0018	a0001c0007t0005 a0001c0008t0005 a0002c0018t0008 a0001c0007t0005 a0001c0008t0005 a0002c0018t0008	a0001c0007t0005g0064 a0001c0008t0005g0171 a0002c0018t0008g0115 a0001c0007t0005g0064 a0001c0008t0005g0171 a0002c0018t0008g0115	3	244	0.0123	-26	c.171 others(43): Show c.1711+808_1711+833delATATATATATATATATATATATATAT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	16/17			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85168851	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0094 a0005c0011t0001g0094	1	266	0.0038	-26	c.-17 others(47): Show c.-172-15138_-172-15113delCTTTCTTTCTTTCTTTCTTTCTTT CT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	1/18			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83593284	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02559.hp1 HG02083.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0046 a0001c0008t0065 a0001c0001t0046 a0001c0008t0065	a0001c0001t0046g0034 a0001c0008t0065g0071 a0001c0001t0046g0034 a0001c0008t0065g0071	2	226	0.0089	-26	c.115 others(45): Show c.115+55118_115+55143delCACACACACACACACACACACACACA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83604518	ATACATAT others(19): Show ATACATATATATGTATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0073 a0001c0001t0070g0073	1	226	0.0044	-26	c.115 others(45): Show c.115+43884_115+43909delCATATATATATATACATATATATGTA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89457171	TGAGCAAC others(19): Show TGAGCAACCAGAGCCTGTGATGGGGTG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0067 a0001c0001t0035g0067	1	370	0.0027	-26	c.-30 others(45): Show c.-309-1244_-309-1219delCACCCCATCACAGGCTCTGGTTGCTC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA4G_chr10_100964504_100990616	100990059	TTTGGGAG others(19): Show TTTGGGAGGCTGAGGTGGGAGGATCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0012 a0012	a0012c0024 a0012c0024	a0012c0024t0001 a0012c0024t0001	a0012c0024t0001g0058 a0012c0024t0001g0058	1	372	0.0027	-26	c.59 others(37): Show c.5929_*5954delTTGGGAGGCTGAGGTGGGAGGATCAC	SEMA4G	ENSG00000095539.16	transcript	ENST00000210633.4	protein_coding		4444		chr10	TogoVar
SEMA5A_chr5_9030033_9551075	9088900	TGTATACT others(19): Show TGTATACTAGCCACATGGCACAGTCTG	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0050 a0001c0004t0005g0050	1	134	0.0075	-26	c.207 others(47): Show c.2073+19214_2073+19239delCAGACTGTGCCATGTGGCTAGTAT AC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	16/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9131633	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0122 a0001c0001t0008g0122	1	134	0.0075	-26	c.159 others(45): Show c.1599+4845_1599+4870delGTTTTTTTTTTTTTTTTTTTTTTTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22			chr5	TogoVar
SEMA5B_chr3_122904082_123032763	122993742	TTGCCACC others(19): Show TTGCCACCCGCTCTGGGAGGGTGATAA	T T	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0109 a0003c0003t0004g0109	1	290	0.0035	-26	c.-38 others(45): Show c.-38-32467_-38-32442delTTATCACCCTCCCAGAGCGGGTGGCA	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	1/22			chr3	TogoVar
SEMA6A_chr5_116438555_116579823	116467283	GAAGAGTG others(19): Show GAAGAGTGGCAAGGGATGTCAGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01074.hp2 others(14): Show HG00735.hp1 HG00741.hp1 HG01074.hp2 HG01106.hp1 HG01257.hp2 HG01258.hp2 HG01978.hp1 HG02615.hp1 HG02698.hp1 HG02818.hp2 HG02886.hp2 HG03041.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 NA19030.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0004 a0001c0014 others(1): Show a0001c0001 a0001c0004 a0001c0014 a0009c0010	a0001c0001t0003 a0001c0001t0017 a0001c0001t0021 others(6): Show a0001c0001t0003 a0001c0001t0017 a0001c0001t0021 a0001c0001t0052 a0001c0001t0064 a0001c0001t0079 a0001c0004t0017 a0001c0014t0017 a0009c0010t0003	a0001c0001t0003g0001 a0001c0001t0003g0009 a0001c0001t0003g0038 others(13): Show a0001c0001t0003g0001 a0001c0001t0003g0009 a0001c0001t0003g0038 a0001c0001t0003g0046 a0001c0001t0003g0160 a0001c0001t0003g0202 a0001c0001t0017g0044 a0001c0001t0021g0255 a0001c0001t0021g0262 a0001c0001t0021g0267 a0001c0001t0052g0206 a0001c0001t0064g0207 a0001c0001t0079g0293 a0001c0004t0017g0153 a0001c0014t0017g0154 a0009c0010t0003g0007	17	304	0.0559	-26	c.189 others(43): Show c.1894+274_1894+299delGGCTTCTGACATCCCTTGCCACTCTT	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	18/18			chr5	TogoVar
SENP2_chr3_185581295_185638551	185584449	CTACATAT others(19): Show CTACATATATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0121 a0002c0002t0121	a0002c0002t0121g0273 a0002c0002t0121g0273	1	360	0.0028	-26	c.-19 others(37): Show c.-1964_-1939delTACATATATATATATATATATATATA	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding		1845		chr3	TogoVar
SENP3_chr17_7556919_7576969	7571837	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02056.hp1 HG02074.hp2 NA18977.hp1 others(1): Show HG02056.hp1 HG02074.hp2 NA18977.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0002 a0001c0001t0028g0003 a0001c0001t0028g0002 a0001c0001t0028g0003	4	446	0.0090	-26	c.40 others(35): Show c.401_*426delTATATATATATATATATATATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	401	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP3_chr17_7556919_7576969	7571884	TATATATA others(19): Show TATATATATATATATATATATATATAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01099.hp2 HG00741.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0003 a0001c0001t0054g0003	2	446	0.0045	-26	c.40 others(35): Show c.403_*428delTATATATATATATATATATATATAAA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	403	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP3_chr17_7556919_7576969	7571886	TATATATA others(19): Show TATATATATATATATATATATATAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG01123.hp2 HG01433.hp2 others(2): Show HG00639.hp1 HG01123.hp2 HG01433.hp2 NA19065.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0080 a0001c0001t0106 others(1): Show a0001c0001t0049 a0001c0001t0080 a0001c0001t0106 a0001c0001t0165	a0001c0001t0049g0001 a0001c0001t0049g0015 a0001c0001t0080g0001 others(2): Show a0001c0001t0049g0001 a0001c0001t0049g0015 a0001c0001t0080g0001 a0001c0001t0106g0014 a0001c0001t0165g0011	5	446	0.0112	-26	c.41 others(35): Show c.411_*436delTATATATATATATATAAAAATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	411	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP6_chr6_75596880_75723281	75638576	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	362	0.0028	-26	c.459 others(43): Show c.459-2106_459-2081delGTGTGTGTGTGTGTATATATATATAT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
SENP7_chr3_101319205_101518212	101463364	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02486.hp1 HG02970.hp1 HG01099.hp2 HG02486.hp1 HG02970.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0097 a0003c0004t0002g0111 a0003c0004t0002g0118 a0003c0004t0002g0097 a0003c0004t0002g0111 a0003c0004t0002g0118	3	370	0.0081	-26	c.187 others(43): Show c.187-4338_187-4313delATATATATATATATATATATATATAT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SEPTIN8_chr5_132745819_132782239	132769998	TATATATA others(19): Show TATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02895.hp2 NA19043.hp1 HG02257.hp2 HG02895.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0093 a0001c0001t0001g0022 a0001c0001t0001g0093	3	326	0.0092	-26	c.31- others(41): Show c.31-4495_31-4470delGTATATATATATATATATATATATAT	SEPTIN8	ENSG00000164402.14	transcript	ENST00000378719.7	protein_coding	1/9			chr5	TogoVar
SEPTIN9_chr17_77276499_77505593	77486511	TGTGTGTG others(19): Show TGTGTGTGTGTGCGCGCACGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0036 a0002c0002t0004g0036	1	150	0.0067	-26	c.914 others(41): Show c.914-908_914-883delGTGTGTGCGCGCACGCGCGCGCGTGT	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77486511	TGTGTGTG others(19): Show TGTGTGTGTGTGCGCGCACGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0139 a0002c0002t0003g0139	1	158	0.0063	-26	c.860 others(41): Show c.860-908_860-883delGTGTGTGCGCGCACGCGCGCGCGTGT	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERAC1_chr6_158104519_158173262	158143329	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02451.hp1 others(11): Show HG01243.hp2 HG01891.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0003 a0002c0006t0003 a0001c0002t0003 a0002c0006t0003	a0001c0002t0003g0267 a0001c0002t0003g0268 a0001c0002t0003g0269 others(11): Show a0001c0002t0003g0267 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0002t0003g0270 a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0315 a0001c0002t0003g0316 a0001c0002t0003g0317 a0001c0002t0003g0318 a0001c0002t0003g0319 a0001c0002t0003g0320 a0002c0006t0003g0265 a0002c0006t0003g0266	14	366	0.0383	-26	c.610 others(41): Show c.610-171_610-146delTATATATAGAGAGAGAGAGAGAGAGA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	7/16			chr6	TogoVar
SERAC1_chr6_158104519_158173262	158143331	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA18522.hp1 NA18906.hp2 others(1): Show HG00642.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0002 a0001c0002t0003 a0001c0002t0014 others(1): Show a0001c0001t0002 a0001c0002t0003 a0001c0002t0014 a0002c0006t0017	a0001c0001t0002g0060 a0001c0002t0003g0322 a0001c0002t0014g0337 others(1): Show a0001c0001t0002g0060 a0001c0002t0003g0322 a0001c0002t0014g0337 a0002c0006t0017g0272	4	366	0.0109	-26	c.610 others(41): Show c.610-173_610-148delTATATATATAGAGAGAGAGAGAGAGA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	7/16			chr6	TogoVar
SERAC1_chr6_158104519_158173262	158143333	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18992.hp1 NA19043.hp2 others(1): Show NA18747.hp2 NA18992.hp1 NA19043.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0200 a0001c0001t0002g0226 a0001c0001t0002g0242 others(1): Show a0001c0001t0002g0200 a0001c0001t0002g0226 a0001c0001t0002g0242 a0001c0002t0003g0340	4	366	0.0109	-26	c.610 others(41): Show c.610-175_610-150delTATATATATATAGAGAGAGAGAGAGA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	7/16			chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169686	ATATATAT others(19): Show ATATATATTATATAATATATTGTATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02280.hp2 HG02717.hp2 others(8): Show HG02145.hp2 HG02280.hp2 HG02717.hp2 HG02818.hp2 HG02970.hp2 HG03453.hp1 HG03490.hp1 HG03492.hp1 NA19058.hp2 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0008 a0001c0001t0002g0198 a0001c0001t0002g0203 others(8): Show a0001c0001t0002g0008 a0001c0001t0002g0198 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0215 a0001c0001t0002g0254 a0001c0002t0003g0333	11	366	0.0301	-26	c.-15 others(37): Show c.-1574_-1549delATATACAATATATTATATAATATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1425		chr6	TogoVar
SERBP1_chr1_67402810_67435402	67409395	ACACACAC others(19): Show ACACACACACACACACACACACACACC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0060 a0001c0001t0081g0060	1	368	0.0027	-26	c.37 others(37): Show c.3786_*3811delGGTGTGTGTGTGTGTGTGTGTGTGTG	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding	8/8	3786		chr1	TogoVar
SERGEF_chr11_17783048_18018047	18015270	TGTGTGAG others(19): Show TGTGTGAGAGAGAGAGAGAGAGAGAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0004 a0005c0004t0001g0004	1	226	0.0044	-26	c.-22 others(37): Show c.-2286_-2261delTCTCTCTCTCTCTCTCTCTCTCACAC	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding		2224		chr11	TogoVar
SERINC5_chr5_80133727_80261048	80175166	CCATATAA others(19): Show CCATATAAGATATGTATTACTATTATA	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	286	0.0035	-26	c.458 others(41): Show c.458-145_458-120delTATAATAGTAATACATATCTTATATG	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	4/11			chr5	TogoVar
SERPINA10_chr14_94275460_94298268	94285460	CATATATA others(19): Show CATATATATATGTATGTCTCTCTCCAT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18968.hp1 NA18970.hp1 others(5): Show HG04115.hp2 NA18968.hp1 NA18970.hp1 NA18978.hp2 NA18989.hp1 NA19003.hp1 NA20905.hp1 NA20905.hp2	a0007 a0018 a0007 a0018	a0007c0006 a0018c0015 a0007c0006 a0018c0015	a0007c0006t0006 a0018c0015t0006 a0007c0006t0006 a0018c0015t0006	a0007c0006t0006g0015 a0007c0006t0006g0034 a0007c0006t0006g0083 others(1): Show a0007c0006t0006g0015 a0007c0006t0006g0034 a0007c0006t0006g0083 a0018c0015t0006g0082	8	421	0.0190	-26	c.114 others(43): Show c.1143+622_1143+647delATGGAGAGAGACATACATATATATAT	SERPINA10	ENSG00000140093.10	transcript	ENST00000261994.9	protein_coding	4/4			chr14	TogoVar
SERPINA11_chr14_94437464_94457800	94449395	TCTTTCTT others(19): Show TCTTTCTTTCTATTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02280.hp1 HG03688.hp1 others(1): Show HG02165.hp1 HG02280.hp1 HG03688.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0225 a0001c0001t0001g0273 others(1): Show a0001c0001t0001g0183 a0001c0001t0001g0225 a0001c0001t0001g0273 a0001c0001t0001g0278	4	452	0.0089	-26	c.-3- others(39): Show c.-3-644_-3-619delGAAAGAAAGAAAGAATAGAAAGAAAG	SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4			chr14	TogoVar
SERPINB7_chr18_63770418_63810370	63783210	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01257.hp1 HG01258.hp2 others(10): Show HG01099.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG02015.hp1 HG02071.hp2 HG02165.hp1 HG03239.hp2 NA18981.hp1 NA18998.hp1 NA19063.hp1 NA19080.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008	a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0175 others(8): Show a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0175 a0001c0001t0002g0285 a0001c0001t0003g0004 a0001c0001t0003g0113 a0001c0001t0003g0211 a0001c0001t0003g0220 a0001c0001t0003g0292 a0001c0001t0004g0219 a0001c0001t0008g0088	13	432	0.0301	-26	c.168 others(41): Show c.168+674_168+699delGAGAGAGAGAGAGAGAGAGAGAAAGA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63783214	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGAGAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19058.hp1 HG03471.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0190 a0001c0001t0003g0238 a0001c0001t0002g0190 a0001c0001t0003g0238	2	432	0.0046	-26	c.168 others(41): Show c.168+678_168+703delGAGAGAGAGAGAGAGAGAAAGAAAGA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63783218	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0061 a0002c0002t0004g0061	1	432	0.0023	-26	c.168 others(41): Show c.168+682_168+707delGAGAGAGAGAGAGAAAGAAAGAAAGA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINE1_chr7_101122104_101144247	101140270	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG02486.hp2 NA18960.hp2 others(4): Show HG00597.hp1 HG02486.hp2 NA18960.hp2 NA18992.hp1 NA19003.hp2 NA19055.hp1 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0002 a0003c0002t0002 a0001c0001t0002 a0003c0002t0002	a0001c0001t0002g0081 a0003c0002t0002g0045 a0003c0002t0002g0268 others(3): Show a0001c0001t0002g0081 a0003c0002t0002g0045 a0003c0002t0002g0268 a0003c0002t0002g0277 a0003c0002t0002g0283 a0003c0002t0002g0323	7	436	0.0161	-26	c.28 others(37): Show c.2829_*2854delAGAAAGAAAGAAAGAAAGAAAGAAAG	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding		1024		chr7	TogoVar
SERPINI1_chr3_167730721_167830569	167772883	TATATATA others(19): Show TATATATATATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	232	0.0043	-26	c.-18 others(45): Show c.-18-16226_-18-16201delTATATATATACACACACACACACACA	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SESN3_chr11_95160513_95236202	95186194	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0257 a0001c0001t0013g0257	1	392	0.0026	-26	c.526 others(41): Show c.526-728_526-703delCACACACACACACACACACACACACA	SESN3	ENSG00000149212.12	transcript	ENST00000536441.7	protein_coding	4/9			chr11	TogoVar
SETBP1_chr18_44675888_45073510	44703348	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19030.hp2 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0005 a0001c0001t0001g0032	2	140	0.0143	-26	c.486 others(43): Show c.486+1537_486+1562delTTTTTTTTTTTTTTTTTTTTTTTTTT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44868694	GAGAGGAC others(19): Show GAGAGGACGGAAGGAAGGGAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	140	0.0071	-26	c.487 others(41): Show c.487-533_487-508delAGGACGGAAGGAAGGGAGGAAGGAAG	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44868698	GGACGGAA others(19): Show GGACGGAAGGAAGGGAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	140	0.0071	-26	c.487 others(41): Show c.487-531_487-506delGACGGAAGGAAGGGAGGAAGGAAGGA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5			chr18	TogoVar

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