Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SEC23A_chr14_39026919_39108235	39094391	CACACACA others(5): Show CACACACATATAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01123.hp2 HG02135.hp2 others(4): Show HG01081.hp1 HG01123.hp2 HG02135.hp2 HG02735.hp1 NA18983.hp1 NA18983.hp2 NA18993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0036 a0001c0003t0001g0064 a0001c0003t0001g0065 others(4): Show a0001c0003t0001g0036 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0077 a0001c0003t0001g0084 a0001c0003t0001g0100 a0001c0003t0001g0115	7	366	0.0191	-12	c.222 others(29): Show c.222-1159_222-1148delATATATGTGTGT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094393	CACACATA others(5): Show CACACATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0117 a0001c0003t0001g0117	1	366	0.0027	-12	c.222 others(29): Show c.222-1161_222-1150delATATATATGTGT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094397	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp2 HG03195.hp1 HG02738.hp1 HG02738.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0004g0011 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0004g0011	3	366	0.0082	-12	c.222 others(29): Show c.222-1165_222-1154delATATATATATAT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094432	ATATATAT others(5): Show ATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03942.hp1 NA18906.hp1 others(3): Show HG00738.hp2 HG03942.hp1 NA18906.hp1 NA18906.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 others(3): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0176 a0001c0001t0001g0344	6	366	0.0164	-12	c.222 others(29): Show c.222-1200_222-1189delAATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23B_chr20_18502940_18566415	18559284	TGACCCTC others(5): Show TGACCCTCCTCCA	T T	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	410	0.0024	-12	c.221 others(31): Show c.2215-1365_2215-1354delACCCTCCTCCAG	SEC23B	ENSG00000101310.17	transcript	ENST00000650089.1	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
SEC23IP_chr10_119887730_119949657	119889052	AAGAGAGA others(5): Show AAGAGAGAAAGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02809.hp2 HG02572.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0205 a0001c0001t0012g0206 a0001c0001t0012g0205 a0001c0001t0012g0206	2	400	0.0050	-12	c.-37 others(23): Show c.-3730_-3719delAGAGAGAAAGGG	SEC23IP	ENSG00000107651.15	transcript	ENST00000369075.8	protein_coding		3677		chr10	TogoVar
SEC23IP_chr10_119887730_119949657	119936543	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0234 a0001c0001t0025g0234	1	400	0.0025	-12	c.20 others(29): Show c.20+2766_*20+2777delAAAAAAAAAAAA	SEC23IP	ENSG00000107651.15	transcript	ENST00000369075.8	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr10	TogoVar
SEC24A_chr5_134643785_134732909	134645850	AAAATAAA others(5): Show AAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	318	0.0031	-12	c.-32 others(23): Show c.-3226_-3215delAAATAAATAAAT	SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding		2934		chr5	TogoVar
SEC24A_chr5_134643785_134732909	134659047	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02559.hp2 NA18939.hp1 others(3): Show HG02040.hp2 HG02559.hp2 NA18939.hp1 NA18967.hp1 NA19068.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 others(3): Show a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0002g0204 a0001c0001t0004g0180	6	318	0.0189	-12	c.98- others(27): Show c.98-2041_98-2030delTATTTATTTATT	SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
SEC24A_chr5_134643785_134732909	134672181	CTTTTTGT others(5): Show CTTTTTGTTTTTG	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03710.hp1 HG03688.hp2 HG03710.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0013 a0001c0001 a0010c0013	a0001c0001t0003 a0010c0013t0003 a0001c0001t0003 a0010c0013t0003	a0001c0001t0003g0087 a0010c0013t0003g0097 a0001c0001t0003g0087 a0010c0013t0003g0097	2	318	0.0063	-12	c.817 others(27): Show c.817+307_817+318delGTTTTTGTTTTT	SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
SEC24A_chr5_134643785_134732909	134673450	GTTGTTTT others(5): Show GTTGTTTTTGTTT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	318	0.0031	-12	c.818 others(29): Show c.818-1143_818-1132delTTTTTGTTTTTG	SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
SEC24B_chr4_109428815_109545896	109439474	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02080.hp1 HG02165.hp2 others(9): Show HG02004.hp1 HG02080.hp1 HG02165.hp2 HG02258.hp1 HG02818.hp1 HG02896.hp2 HG03130.hp2 NA18942.hp1 NA18947.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0002 a0001c0001t0012 a0008c0012t0002 a0001c0001t0002 a0001c0001t0012 a0008c0012t0002	a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 others(9): Show a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0012g0013 a0008c0012t0002g0085	12	222	0.0541	-12	c.133 others(29): Show c.133+5506_133+5517delTTTTTTTTTTTT	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109517943	GTTTGTTT others(5): Show GTTTGTTTATTTA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG02647.hp1 others(3): Show HG02258.hp2 HG02486.hp2 HG02647.hp1 HG03041.hp2 HG03516.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0003 a0001c0001t0001 a0001c0001t0006 a0001c0002t0003	a0001c0001t0001g0043 a0001c0001t0006g0016 a0001c0001t0006g0020 others(3): Show a0001c0001t0001g0043 a0001c0001t0006g0016 a0001c0001t0006g0020 a0001c0001t0006g0042 a0001c0002t0003g0047 a0001c0002t0003g0048	6	222	0.0270	-12	c.212 others(31): Show c.2126+1307_2126+1318delGTTTATTTATTT	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109517947	GTTTATTT others(5): Show GTTTATTTATTTA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0188 a0001c0001t0013g0188	1	222	0.0045	-12	c.212 others(31): Show c.2126+1331_2126+1342delATTTATTTATTT	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24D_chr4_118717823_118841126	118810074	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02074.hp1 HG01175.hp2 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0145 a0001c0002t0001g0091 a0001c0002t0001g0145	2	300	0.0067	-12	c.802 others(29): Show c.802-4132_802-4121delCACACACACACA	SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	6/22			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82837158	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02004.hp2 HG02572.hp1 others(4): Show HG01346.hp1 HG02004.hp2 HG02572.hp1 HG02630.hp1 HG03209.hp2 NA18941.hp1 NA18985.hp1	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0001 a0004c0014 a0011c0008 a0001c0001 a0004c0014 a0011c0008	a0001c0001t0001 a0004c0014t0001 a0011c0008t0001 a0001c0001t0001 a0004c0014t0001 a0011c0008t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0070 others(4): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0070 a0001c0001t0001g0192 a0001c0001t0001g0316 a0004c0014t0001g0307 a0011c0008t0001g0317	7	328	0.0213	-12	c.296 others(31): Show c.2968+4970_2968+4981delATATATATATAT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82865536	GTATATAT others(5): Show GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03041.hp2 HG04204.hp1 others(1): Show HG02818.hp2 HG03041.hp2 HG04204.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0003t0001g0006 others(1): Show a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0003t0001g0006 a0001c0003t0001g0007	4	328	0.0122	-12	c.119 others(29): Show c.1198-950_1198-939delTATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	10/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82882401	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00558.hp1 others(89): Show HG00140.hp2 HG00280.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01981.hp1 HG02004.hp1 HG02040.hp1 HG02055.hp1 HG02132.hp2 HG02155.hp1 HG02523.hp1 HG02602.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18612.hp2 NA18942.hp2 NA18946.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp2 NA18973.hp1 NA18975.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA18999.hp1 NA19003.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19056.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19070.hp1 NA19072.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp2 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0002 a0001c0007 a0001c0018 others(3): Show a0001c0002 a0001c0007 a0001c0018 a0001c0019 a0006c0016 a0007c0017	a0001c0002t0001 a0001c0007t0001 a0001c0018t0001 others(3): Show a0001c0002t0001 a0001c0007t0001 a0001c0018t0001 a0001c0019t0001 a0006c0016t0001 a0007c0017t0001	a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 others(89): Show a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0300 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0007t0001g0246 a0001c0007t0001g0277 a0001c0018t0001g0238 a0001c0019t0001g0293 a0006c0016t0001g0005 a0007c0017t0001g0210	92	328	0.2805	-12	c.-4- others(25): Show c.-4-473_-4-462delTTTTTTTTTTTT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	1/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82895475	AGCTCCAC others(5): Show AGCTCCACCCCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0260 a0001c0002t0001g0260	1	328	0.0031	-12	c.-44 others(23): Show c.-4404_-4393delAGGGGGTGGAGC	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding		4323		chr4	TogoVar
SEC61B_chr9_99217282_99235615	99227265	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	350	0.0029	-12	c.102 others(27): Show c.102-619_102-608delAAAAAAAAAAAA	SEC61B	ENSG00000106803.10	transcript	ENST00000223641.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SEC63_chr6_107862756_107963208	107863971	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG04115.hp1 HG03831.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0018 a0001c0001t0003 a0001c0002t0018	a0001c0001t0003g0127 a0001c0002t0018g0056 a0001c0001t0003g0127 a0001c0002t0018g0056	2	332	0.0060	-12	c.77 others(23): Show c.7721_*7732delACACACACACAC	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding		3784		chr6	TogoVar
SEC63_chr6_107862756_107963208	107893107	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00438.hp2 others(103): Show HG00099.hp1 HG00280.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01169.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02145.hp1 HG02165.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03453.hp1 HG03492.hp1 HG03540.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18944.hp1 NA18946.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18968.hp1 NA18968.hp2 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18989.hp2 NA18991.hp2 NA18995.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19005.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19067.hp2 NA19079.hp1 NA19080.hp2 NA19089.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0050 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0025 a0001c0002t0055 a0001c0006t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0004c0007t0043	a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0065 others(102): Show a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0228 a0001c0001t0001g0241 a0001c0001t0001g0248 a0001c0001t0001g0257 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0306 a0001c0001t0003g0061 a0001c0001t0003g0072 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0103 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0126 a0001c0001t0003g0162 a0001c0001t0003g0165 a0001c0001t0003g0208 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0009g0091 a0001c0001t0020g0017 a0001c0001t0022g0130 a0001c0001t0022g0133 a0001c0001t0023g0100 a0001c0001t0023g0131 a0001c0001t0024g0054 a0001c0001t0033g0316 a0001c0001t0034g0315 a0001c0001t0035g0122 a0001c0001t0037g0066 a0001c0001t0042g0062 a0001c0001t0044g0063 a0001c0001t0045g0140 a0001c0001t0050g0167 a0001c0002t0001g0005 a0001c0002t0002g0286 a0001c0002t0005g0174 a0001c0002t0025g0307 a0001c0002t0055g0300 a0001c0006t0001g0157 a0001c0008t0001g0152 a0001c0009t0001g0277 a0001c0010t0001g0112 a0004c0007t0043g0322	106	332	0.3193	-12	c.167 others(29): Show c.1674+363_1674+374delGTGTGTGTGTGT	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding	16/20			chr6	TogoVar
SECISBP2L_chr15_48983638_49051446	49005560	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	378	0.0027	-12	c.202 others(31): Show c.2027+3644_2027+3655delAAAAAAAAAAAA	SECISBP2L	ENSG00000138593.9	transcript	ENST00000559471.6	protein_coding	14/17			chr15	TogoVar
SEH1L_chr18_12943011_12992531	12958064	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(138): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02109.hp2 HG02145.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19065.hp1 NA19079.hp1 NA19081.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0007 a0003c0005 others(1): Show a0001c0001 a0001c0007 a0003c0005 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 a0003c0005t0001 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(134): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0382 a0001c0001t0003g0013 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0007t0001g0233 a0001c0007t0001g0236 a0003c0005t0001g0352 a0003c0005t0001g0353 a0004c0006t0001g0144 a0004c0006t0001g0354	141	388	0.3634	-12	c.309 others(29): Show c.309+2481_309+2492delTTTTTTTTTTTT	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEH1L_chr18_12943011_12992531	12980556	CGGGCGGG others(5): Show CGGGCGGGGGGCT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18522.hp1 NA18954.hp2 others(5): Show HG00621.hp2 NA18522.hp1 NA18954.hp2 NA18955.hp2 NA18970.hp1 NA19002.hp1 NA19081.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0023 a0001c0003t0002g0361 a0001c0003t0002g0362 others(5): Show a0001c0001t0002g0023 a0001c0003t0002g0361 a0001c0003t0002g0362 a0001c0003t0002g0363 a0001c0003t0002g0364 a0001c0003t0002g0365 a0001c0003t0002g0366 a0001c0003t0002g0367	8	388	0.0206	-12	c.761 others(29): Show c.761+1666_761+1677delGGCGGGGGGCTG	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEL1L2_chr20_13844247_13995614	13848513	AAGAAGGA others(5): Show AAGAAGGAGAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	324	0.0031	-12	c.96 others(21): Show c.960_*971delCCTTCTCCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		733		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13907700	CTCTTTCT others(5): Show CTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02258.hp1 HG02486.hp1 others(7): Show HG00621.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp1 HG02630.hp1 HG02922.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0084 a0001c0001t0001g0123 a0001c0001t0001g0157 others(7): Show a0001c0001t0001g0084 a0001c0001t0001g0123 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0217 a0001c0001t0001g0278 a0001c0001t0001g0323 a0001c0001t0002g0002 a0001c0001t0002g0019	10	324	0.0309	-12	c.549 others(29): Show c.549+6070_549+6081delAAGAAAGAAAGA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	5/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13924413	ATTTTCTT others(5): Show ATTTTCTTTTTCT	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	324	0.0031	-12	c.284 others(29): Show c.284-5302_284-5291delAGAAAAAGAAAA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	3/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13929487	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0135 a0001c0011t0001g0135	1	324	0.0031	-12	c.283 others(29): Show c.283+2104_283+2115delAAAAAAAAAAAA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	3/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13932407	AATTATTA others(5): Show AATTATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0213 a0001c0003t0001g0213	1	324	0.0031	-12	c.115 others(27): Show c.115-648_115-637delAATAATAATAAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L3_chr4_25742433_25867988	25746536	ATATATTC others(5): Show ATATATTCAAATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	312	0.0032	-12	c.18 others(23): Show c.1877_*1888delCATTTGAATATA	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding		896		chr4	TogoVar
SEL1L3_chr4_25742433_25867988	25788569	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp2 HG03041.hp1 HG03041.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0022 a0001c0010t0002 a0001c0010t0022	a0001c0010t0002g0173 a0001c0010t0022g0307 a0001c0010t0002g0173 a0001c0010t0022g0307	2	312	0.0064	-12	c.207 others(29): Show c.2077-217_2077-206delACACACACACAC	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	12/23			chr4	TogoVar
SEL1L3_chr4_25742433_25867988	25790610	AGAAGGAA others(5): Show AGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02976.hp1 others(4): Show HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03209.hp2 NA18522.hp1 NA18906.hp1 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0004c0007 a0007c0033	a0001c0001t0009 a0001c0003t0002 a0001c0006t0007 others(3): Show a0001c0001t0009 a0001c0003t0002 a0001c0006t0007 a0002c0002t0002 a0004c0007t0001 a0007c0033t0007	a0001c0001t0009g0124 a0001c0003t0002g0096 a0001c0003t0002g0097 others(4): Show a0001c0001t0009g0124 a0001c0003t0002g0096 a0001c0003t0002g0097 a0001c0006t0007g0125 a0002c0002t0002g0138 a0004c0007t0001g0164 a0007c0033t0007g0171	7	312	0.0224	-12	c.195 others(27): Show c.1957-48_1957-37delCTTCCTTCCTTC	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	11/23			chr4	TogoVar
SEL1L3_chr4_25742433_25867988	25790656	AAGGAAGG others(5): Show AAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03540.hp2 HG01069.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0120 a0001c0001t0002g0190 a0001c0001t0001g0120 a0001c0001t0002g0190	2	312	0.0064	-12	c.195 others(27): Show c.1957-94_1957-83delCCCTTCCTTCCT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	11/23			chr4	TogoVar
SEL1L3_chr4_25742433_25867988	25790660	AAGGAAGG others(5): Show AAGGAAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02258.hp2 others(2): Show HG02109.hp1 HG02257.hp1 HG02258.hp2 HG03041.hp2 HG03130.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0010 a0002c0005 a0012c0016 a0001c0010 a0002c0005 a0012c0016	a0001c0010t0022 a0002c0005t0006 a0012c0016t0002 a0001c0010t0022 a0002c0005t0006 a0012c0016t0002	a0001c0010t0022g0307 a0002c0005t0006g0001 a0012c0016t0002g0141 a0001c0010t0022g0307 a0002c0005t0006g0001 a0012c0016t0002g0141	5	312	0.0160	-12	c.195 others(27): Show c.1957-98_1957-87delCCCTCCCTTCCT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	11/23			chr4	TogoVar
SEL1L3_chr4_25742433_25867988	25790664	AAGGGAGG others(5): Show AAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02738.hp1 HG00735.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0145 a0001c0001t0002g0191 a0001c0001t0001g0145 a0001c0001t0002g0191	2	312	0.0064	-12	c.195 others(28): Show c.1957-102_1957-91delCCCTCCCTCCCT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	11/23			chr4	TogoVar
SEL1L3_chr4_25742433_25867988	25831510	AATTATTA others(5): Show AATTATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	312	0.0032	-12	c.109 others(31): Show c.1099-1366_1099-1355delAATAATAATAAT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	5/23			chr4	TogoVar
SEL1L3_chr4_25742433_25867988	25864552	GACTTGAG others(5): Show GACTTGAGAATGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02717.hp1 HG02809.hp1 HG02055.hp2 HG02717.hp1 HG02809.hp1	a0005 a0016 a0005 a0016	a0005c0019 a0005c0022 a0016c0020 a0005c0019 a0005c0022 a0016c0020	a0005c0019t0002 a0005c0022t0004 a0016c0020t0002 a0005c0019t0002 a0005c0022t0004 a0016c0020t0002	a0005c0019t0002g0010 a0005c0022t0004g0284 a0016c0020t0002g0011 a0005c0019t0002g0010 a0005c0022t0004g0284 a0016c0020t0002g0011	3	312	0.0096	-12	c.-17 others(23): Show c.-1728_-1717delACATTCTCAAGT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding		1565		chr4	TogoVar
SEL1L_chr14_81466547_81538853	81510504	CTCTCTCT others(5): Show CTCTCTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	360	0.0028	-12	c.341 others(29): Show c.341-4275_341-4264delTAGAGAGAGAGA	SEL1L	ENSG00000071537.14	transcript	ENST00000336735.9	protein_coding	3/20			chr14	TogoVar
SELENOF_chr1_86857445_86919126	86864985	TTTGAGAT others(5): Show TTTGAGATCCCAA	T T	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	226	0.0044	-12	c.367 others(29): Show c.367-1392_367-1381delTTGGGATCTCAA	SELENOF	ENSG00000183291.18	transcript	ENST00000331835.10	protein_coding	4/4			chr1	TogoVar
SELENOF_chr1_86857445_86919126	86873044	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp2 HG01167.hp2 others(21): Show HG00609.hp2 HG00639.hp2 HG01167.hp2 HG01255.hp1 HG01358.hp2 HG02080.hp2 HG02273.hp1 HG02559.hp1 HG02698.hp2 HG02818.hp1 HG02896.hp1 HG02976.hp1 HG02976.hp2 HG03710.hp1 HG04204.hp1 NA18946.hp2 NA18962.hp2 NA18970.hp2 NA18975.hp2 NA18990.hp2 NA19005.hp1 NA19084.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0011 a0001c0001t0001g0107 a0001c0001t0001g0111 others(20): Show a0001c0001t0001g0011 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0208 a0001c0001t0004g0055 a0001c0001t0007g0063	24	226	0.1062	-12	c.317 others(29): Show c.317-4954_317-4943delATTTATTTATTT	SELENOF	ENSG00000183291.18	transcript	ENST00000331835.10	protein_coding	3/4			chr1	TogoVar
SELENOF_chr1_86857445_86919126	86881184	TTATAGAA others(5): Show TTATAGAAAGTAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(29): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG01256.hp2 HG01358.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG02615.hp2 HG02647.hp2 HG02698.hp1 HG02896.hp2 HG02897.hp2 HG03017.hp2 HG03491.hp2 HG03540.hp1 HG03669.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18946.hp1 NA18949.hp1 NA18970.hp1 NA18975.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0010 others(25): Show a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0109 a0001c0001t0006g0008 a0001c0001t0006g0093	32	226	0.1416	-12	c.253 others(27): Show c.253-471_253-460delGTACTTTCTATA	SELENOF	ENSG00000183291.18	transcript	ENST00000331835.10	protein_coding	2/4			chr1	TogoVar
SELENOF_chr1_86857445_86919126	86884346	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02965.hp1 HG03098.hp2 others(1): Show HG02647.hp1 HG02965.hp1 HG03098.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0061 a0001c0001t0002g0108 a0001c0001t0002g0004 a0001c0001t0002g0061 a0001c0001t0002g0108	4	226	0.0177	-12	c.253 others(29): Show c.253-3633_253-3622delGTGTGTGTGTGT	SELENOF	ENSG00000183291.18	transcript	ENST00000331835.10	protein_coding	2/4			chr1	TogoVar
SELENOF_chr1_86857445_86919126	86894839	AAACAACA others(5): Show AAACAACAACAAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	226	0.0044	-12	c.252 others(29): Show c.252+8430_252+8441delGTTGTTGTTGTT	SELENOF	ENSG00000183291.18	transcript	ENST00000331835.10	protein_coding	2/4			chr1	TogoVar
SELENOI_chr2_26341143_26400885	26364078	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0167 a0001c0005t0006g0167	1	334	0.0030	-12	c.58- others(25): Show c.58-214_58-203delTTTTTTTTTTTT	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SELENOI_chr2_26341143_26400885	26381198	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0186 a0001c0001t0023g0186	1	334	0.0030	-12	c.683 others(29): Show c.683-2081_683-2070delTTTTTTTTTTTT	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SELENOK_chr3_53879417_53896859	53895918	TACACACA others(5): Show TACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	422	0.0024	-12	c.-41 others(23): Show c.-4142_-4131delGTGTGTGTGTGT	SELENOK	ENSG00000113811.12	transcript	ENST00000495461.6	protein_coding		4060		chr3	TogoVar
SELENON_chr1_25795193_25823221	25812556	TACACACA others(5): Show TACACACAAACAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18951.hp2 NA18999.hp1 others(1): Show HG03453.hp1 NA18951.hp2 NA18999.hp1 NA19080.hp1	a0001 a0001	a0001c0010 a0001c0021 a0001c0010 a0001c0021	a0001c0010t0021 a0001c0010t0022 a0001c0021t0016 a0001c0010t0021 a0001c0010t0022 a0001c0021t0016	a0001c0010t0021g0169 a0001c0010t0022g0165 a0001c0010t0022g0172 others(1): Show a0001c0010t0021g0169 a0001c0010t0022g0165 a0001c0010t0022g0172 a0001c0021t0016g0162	4	392	0.0102	-12	c.128 others(29): Show c.1282-123_1282-112delAACACACACACA	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding	9/12		WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS&INFO_REALIGN_3_PRIME	chr1	TogoVar
SELENON_chr1_25795193_25823221	25812564	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02895.hp2 HG02922.hp1 others(13): Show HG02723.hp1 HG02895.hp2 HG02922.hp1 NA18747.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18955.hp2 NA18964.hp1 NA18975.hp1 NA18979.hp1 NA18983.hp1 NA19004.hp1 NA19030.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0001c0011	a0001c0001t0002 a0001c0004t0006 a0001c0007t0006 others(1): Show a0001c0001t0002 a0001c0004t0006 a0001c0007t0006 a0001c0011t0006	a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0196 others(6): Show a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0204 a0001c0004t0006g0220 a0001c0007t0006g0238 a0001c0011t0006g0151 a0001c0011t0006g0152	16	392	0.0408	-12	c.128 others(27): Show c.1282-92_1282-81delACACACACACAC	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding	9/12		WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS&INFO_REALIGN_3_PRIME	chr1	TogoVar
SELENON_chr1_25795193_25823221	25819387	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0015 a0001c0020t0015	a0001c0020t0015g0175 a0001c0020t0015g0175	1	392	0.0026	-12	c.36 others(23): Show c.3670_*3681delGTGTGTGTGTGT	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding		1167	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr1	TogoVar

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