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	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
SERGEF_chr11_17783048_18018047	17896850	GGGTAAGG others(13): Show GGGTAAGGGAAGGGAAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02647.hp2 HG02280.hp1 HG02647.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0092 a0002c0003t0001g0020 a0001c0001t0001g0092 a0002c0003t0001g0020	2	209	0.0096	-20	c.101 others(41): Show c.1012-18626_1012-18607delTTCCCTTCCCTTCCCTTACC		SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10						chr11	TogoVar
SERGEF_chr11_17783048_18018047	17896853	TAAGGGAA others(13): Show TAAGGGAAGGGAAGGGAAGGG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02886.hp2 NA21309.hp1 HG02486.hp1 HG02886.hp2 NA21309.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0001 a0008c0011t0001 a0001c0001t0001 a0008c0011t0001	a0001c0001t0001g0028 a0001c0001t0001g0030 a0008c0011t0001g0032 a0001c0001t0001g0028 a0001c0001t0001g0030 a0008c0011t0001g0032	3	104	0.0288	-20	c.101 others(41): Show c.1012-18629_1012-18610delCCCTTCCCTTCCCTTCCCTT		SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10						chr11	TogoVar
SERGEF_chr11_17783048_18018047	17998436	CATACATA others(13): Show CATACATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0017 a0009c0009t0001g0017	1	125	0.0080	-20	c.508 others(37): Show c.508+2041_508+2060delATATATATATATATATGTAT		SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	5/10						chr11	TogoVar
SERGEF_chr11_17783048_18018047	18015274	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0183 a0001c0002t0002g0183	1	45	0.0222	-20	c.-22 others(31): Show c.-2284_-2265delTCTCTCTCTCTCTCTCTCTC		SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding					2228		chr11	TogoVar
SERHL2_chr22_42548956_42579382	42569839	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02486.hp1 HG03453.hp1 others(1): Show HG00639.hp1 HG02486.hp1 HG03453.hp1 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0010 a0002c0002t0001 a0002c0002t0010	a0002c0002t0001g0167 a0002c0002t0001g0169 a0002c0002t0010g0166 others(1): Show a0002c0002t0001g0167 a0002c0002t0001g0169 a0002c0002t0010g0166 a0002c0002t0010g0168	4	184	0.0217	-20	c.649 others(37): Show c.649-1266_649-1247delGTGTGTGTGTGTGTGTGTGT		SERHL2	ENSG00000183569.18	transcript	ENST00000327678.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
SERINC5_chr5_80133727_80261048	80173225	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp1 HG02717.hp2 others(8): Show HG01891.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0049 a0001c0001t0075	a0001c0001t0001g0270 a0001c0001t0002g0039 a0001c0001t0002g0227 others(8): Show a0001c0001t0001g0270 a0001c0001t0002g0039 a0001c0001t0002g0227 a0001c0001t0002g0269 a0001c0001t0008g0124 a0001c0001t0008g0129 a0001c0001t0008g0241 a0001c0001t0009g0126 a0001c0001t0013g0068 a0001c0001t0049g0242 a0001c0001t0075g0284	11	74	0.1486	-20	c.551 others(37): Show c.551+1709_551+1728delCTTCCTTCCTTCCTTCCTTC		SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	5/11						chr5	TogoVar
SERINC5_chr5_80133727_80261048	80197308	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03486.hp2 NA19043.hp1 HG01167.hp2 HG03486.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0021 a0001c0001t0022 a0001c0001t0013 a0001c0001t0021 a0001c0001t0022	a0001c0001t0013g0140 a0001c0001t0021g0141 a0001c0001t0022g0261 a0001c0001t0013g0140 a0001c0001t0021g0141 a0001c0001t0022g0261	3	7	0.4286	-20	c.195 others(37): Show c.195+5558_195+5577delTCTCTCTCTCTCTCTCTCTC		SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	2/11						chr5	TogoVar
SERINC5_chr5_80133727_80261048	80251279	AATACATA others(13): Show AATACATACATGCATACATAC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02895.hp1 others(1): Show HG02486.hp1 HG02559.hp1 HG02895.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0001t0046	a0001c0001t0002g0151 a0001c0001t0007g0150 a0001c0001t0013g0068 others(1): Show a0001c0001t0002g0151 a0001c0001t0007g0150 a0001c0001t0013g0068 a0001c0001t0046g0149	4	227	0.0176	-20	c.27+ others(35): Show c.27+4597_27+4616delGTATGTATGCATGTATGTAT		SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	1/11						chr5	TogoVar
SERP2_chr13_44368824_44402714	44381989	AGGATGGA others(13): Show AGGATGGATGGATGGATGGAT	A A	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	129	0.0078	-20	c.157 others(37): Show c.157+2305_157+2324delGGATGGATGGATGGATGGAT		SERP2	ENSG00000151778.11	transcript	ENST00000379179.8	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr13	TogoVar
SERPINA11_chr14_94437464_94457800	94449401	TTTCTATT others(13): Show TTTCTATTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	2	443	0.0045	-20	c.-3- others(33): Show c.-3-644_-3-625delGAAAGAAAGAAAGAATAGAA		SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4						chr14	TogoVar
SERPINA11_chr14_94437464_94457800	94449405	TATTCTTT others(13): Show TATTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA19000.hp2 NA19057.hp1 others(2): Show NA18963.hp2 NA19000.hp2 NA19057.hp1 NA19070.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	5	247	0.0202	-20	c.-3- others(33): Show c.-3-648_-3-629delGAAAGAAAGAAAGAAAGAAT		SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4						chr14	TogoVar
SERPINA11_chr14_94437464_94457800	94449406	ATTCTTTC others(13): Show ATTCTTTCTTTCTTTCTTTCT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA20752.hp1 HG02135.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	387	0.0052	-20	c.-3- others(33): Show c.-3-649_-3-630delAGAAAGAAAGAAAGAAAGAA		SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4						chr14	TogoVar
SERPINA11_chr14_94437464_94457800	94452598	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(64): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00733.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01192.hp2 HG01261.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp2 HG01943.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02300.hp2 HG02602.hp1 HG02622.hp2 HG03209.hp2 HG03471.hp2 HG03688.hp1 HG03927.hp2 HG04199.hp1 NA18612.hp2 NA18942.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18963.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp1 NA18978.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA19002.hp1 NA19010.hp1 NA19058.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp1 NA19085.hp1 NA19090.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0055 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0005c0008t0001g0201	67	92	0.7283	-20	c.-4+ others(33): Show c.-4+111_-4+130delGTGTGTGTGTGTGTGTGTGT		SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4						chr14	TogoVar
SERPINB11_chr18_63697960_63728893	63725572	GGAGGCAG others(13): Show GGAGGCAGAGTGCCCTCTTCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	420	0.0024	-20	c.21 others(31): Show c.2174_*2193delGAGGCAGAGTGCCCTCTTCC		SERPINB11	ENSG00000206072.13	transcript	ENST00000544088.6	protein_coding					1680		chr18	TogoVar
SERPINB12_chr18_63537369_63574329	63558999	CTTCCTTC others(13): Show CTTCCTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01358.hp1 HG01257.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0205 a0001c0001t0002g0207	2	288	0.0069	-20	c.303 others(35): Show c.303+517_303+536delCTTCTTTCTTTCTTTCTTTC		SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63783186	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01981.hp1 HG03579.hp2 others(5): Show HG00423.hp1 HG01981.hp1 HG03579.hp2 NA18939.hp1 NA18941.hp1 NA18962.hp1 NA18982.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0002g0036 a0001c0001t0002g0123 a0001c0001t0003g0022 others(5): Show a0001c0001t0002g0036 a0001c0001t0002g0123 a0001c0001t0003g0022 a0001c0001t0003g0133 a0001c0001t0003g0183 a0001c0001t0003g0187 a0001c0001t0007g0006 a0001c0001t0007g0012	8	254	0.0315	-20	c.168 others(35): Show c.168+676_168+695delGAGAGAGAGAGAGAGAGAGA		SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB8_chr18_63965081_63994374	63980020	ACTGACTT others(13): Show ACTGACTTAAAACGTGCTTGG	A A	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0005 a0003c0002t0005	a0003c0002t0005g0112 a0003c0002t0005g0112	1	464	0.0022	-20	c.306 others(34): Show c.306+83_306+102delCTGACTTAAAACGTGCTTGG		SERPINB8	ENSG00000166401.15	transcript	ENST00000397985.7	protein_coding	3/6						chr18	TogoVar
SERPINE1_chr7_101122104_101144247	101135257	GAGAGAGA others(13): Show GAGAGAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp1 HG01167.hp2 others(9): Show HG01081.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG02523.hp2 HG02615.hp1 HG02723.hp1 HG02976.hp2 HG03130.hp1 HG03209.hp1 HG03516.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0017 a0001c0001t0001g0060 a0001c0001t0001g0082 others(7): Show a0001c0001t0001g0017 a0001c0001t0001g0060 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0123 a0001c0001t0001g0138 a0001c0001t0002g0215 a0001c0001t0004g0263 a0001c0001t0006g0196 a0001c0001t0007g0134	12	228	0.0526	-20	c.900 others(35): Show c.900-233_900-214delGAGAAAGAAAGAAAGAAAGA		SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
SERPINE1_chr7_101122104_101144247	101136404	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18951.hp2 NA19030.hp2 others(1): Show HG02155.hp2 NA18951.hp2 NA19030.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0077 a0001c0001t0002g0221 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0077 a0001c0001t0002g0221 a0001c0001t0002g0225	4	241	0.0166	-20	c.108 others(37): Show c.1088-555_1088-536delAAGAAAGAAAGAAAGAAAGA		SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
SERPINE1_chr7_101122104_101144247	101136448	GAAAGAAA others(13): Show GAAAGAAAGAAAGAAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA19000.hp2 HG02074.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0222 a0001c0001t0002g0203 a0001c0001t0002g0222	2	430	0.0047	-20	c.108 others(37): Show c.1088-551_1088-532delAAGAAAGAAAGAAAGAGAAA		SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
SERPINE1_chr7_101122104_101144247	101140227	CGAAAGAA others(13): Show CGAAAGAAAGAAAGAAAGAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01981.hp2 HG01517.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0027 a0001c0001t0004g0005 a0001c0001t0004g0027	2	420	0.0048	-20	c.27 others(31): Show c.2786_*2805delGAAAGAAAGAAAGAAAGAAA		SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding					981		chr7	TogoVar
SERPINE2_chr2_223970045_224044286	224005047	TTATATAT others(13): Show TTATATATTTTATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0106 a0001c0005t0001g0106	1	372	0.0027	-20	c.-22 others(37): Show c.-22-3145_-22-3126delTAATATATATAAAATATATA		SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding	1/8						chr2	TogoVar
SERPINE2_chr2_223970045_224044286	224019550	GTTCACCA others(13): Show GTTCACCATGGCACCCCAGCC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp1 others(92): Show HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00639.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG02056.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03942.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18960.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp2 NA18978.hp2 NA18980.hp2 NA18988.hp2 NA18991.hp2 NA18992.hp2 NA19002.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0013 a0002c0008 a0003c0014 a0004c0011	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 others(14): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0014 a0001c0004t0001 a0001c0004t0002 a0001c0005t0002 a0001c0007t0002 a0001c0013t0002 a0002c0008t0001 a0003c0014t0001 a0004c0011t0002	a0001c0001t0002g0244 a0001c0001t0002g0263 a0001c0002t0001g0036 others(85): Show a0001c0001t0002g0244 a0001c0001t0002g0263 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0123 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0003g0210 a0001c0002t0003g0211 a0001c0002t0003g0212 a0001c0002t0003g0213 a0001c0003t0001g0029 a0001c0003t0001g0032 a0001c0003t0001g0035 a0001c0003t0001g0122 a0001c0003t0001g0124 a0001c0003t0001g0172 a0001c0003t0001g0196 a0001c0003t0002g0012 a0001c0003t0002g0015 a0001c0003t0002g0017 a0001c0003t0002g0221 a0001c0003t0002g0222 a0001c0003t0002g0229 a0001c0003t0002g0234 a0001c0003t0002g0235 a0001c0003t0002g0236 a0001c0003t0002g0237 a0001c0003t0002g0243 a0001c0003t0002g0251 a0001c0003t0002g0253 a0001c0003t0002g0254 a0001c0003t0002g0256 a0001c0003t0002g0257 a0001c0003t0002g0266 a0001c0003t0002g0267 a0001c0003t0002g0271 a0001c0003t0002g0273 a0001c0003t0002g0278 a0001c0003t0002g0283 a0001c0003t0002g0343 a0001c0003t0005g0028 a0001c0003t0005g0190 a0001c0003t0006g0280 a0001c0003t0006g0281 a0001c0003t0007g0020 a0001c0003t0014g0347 a0001c0004t0001g0006 a0001c0004t0001g0132 a0001c0004t0002g0014 a0001c0004t0002g0220 a0001c0004t0002g0223 a0001c0004t0002g0224 a0001c0004t0002g0225 a0001c0004t0002g0227 a0001c0004t0002g0228 a0001c0004t0002g0231 a0001c0004t0002g0232 a0001c0004t0002g0239 a0001c0004t0002g0240 a0001c0004t0002g0241 a0001c0004t0002g0242 a0001c0004t0002g0245 a0001c0004t0002g0246 a0001c0004t0002g0247 a0001c0004t0002g0248 a0001c0004t0002g0249 a0001c0004t0002g0250 a0001c0004t0002g0252 a0001c0004t0002g0255 a0001c0004t0002g0262 a0001c0004t0002g0264 a0001c0004t0002g0265 a0001c0004t0002g0272 a0001c0005t0002g0013 a0001c0005t0002g0268 a0001c0005t0002g0269 a0001c0005t0002g0270 a0001c0007t0002g0214 a0001c0007t0002g0279 a0001c0007t0002g0341 a0001c0013t0002g0208 a0002c0008t0001g0128 a0002c0008t0001g0130 a0003c0014t0001g0203 a0004c0011t0002g0258	95	372	0.2554	-20	c.-22 others(39): Show c.-22-17648_-22-17629delGGCTGGGGTGCCATGGTGAA		SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding	1/8						chr2	TogoVar
SERPINE2_chr2_223970045_224044286	224044128	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00733.hp2 HG00735.hp1 others(18): Show HG00639.hp2 HG00733.hp2 HG00735.hp1 HG01070.hp1 HG01074.hp2 HG01496.hp2 HG01515.hp1 HG02056.hp2 HG02165.hp1 HG02647.hp1 HG02647.hp2 HG03017.hp2 HG03710.hp1 HG04204.hp2 NA18939.hp2 NA18978.hp2 NA18980.hp2 NA18991.hp2 NA19065.hp2 NA19091.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0002 a0001c0003t0002 a0001c0004t0002 others(1): Show a0001c0001t0002 a0001c0003t0002 a0001c0004t0002 a0001c0007t0002	a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0230 others(18): Show a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0230 a0001c0001t0002g0238 a0001c0001t0002g0260 a0001c0001t0002g0329 a0001c0001t0002g0342 a0001c0003t0002g0012 a0001c0003t0002g0015 a0001c0003t0002g0222 a0001c0003t0002g0229 a0001c0003t0002g0235 a0001c0003t0002g0243 a0001c0003t0002g0251 a0001c0003t0002g0253 a0001c0003t0002g0254 a0001c0003t0002g0256 a0001c0004t0002g0232 a0001c0004t0002g0241 a0001c0004t0002g0242 a0001c0007t0002g0341	21	225	0.0933	-20	c.-50 others(31): Show c.-5072_-5053delGAAAGAAAGAAAGAAAGAAA		SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding					4843		chr2	TogoVar
SERPINI1_chr3_167730721_167830569	167748752	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	43	0.0233	-20	c.-19 others(39): Show c.-19+12951_-19+12970delGTGTGTGTGTGTGTGTGTGT		SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr3	TogoVar
SERPINI1_chr3_167730721_167830569	167760561	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG02965.hp2 HG02622.hp2 HG02647.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157	3	16	0.1875	-20	c.-19 others(39): Show c.-19+24768_-19+24787delGTGTGTGTGTGTGTGTGTGT		SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr3	TogoVar
SERPINI1_chr3_167730721_167830569	167772889	TATATACA others(13): Show TATATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0044 a0002c0002t0001g0044	1	226	0.0044	-20	c.-18 others(39): Show c.-18-16220_-18-16201delTATACACACACACACACACA		SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr3	TogoVar
SESN1_chr6_108979309_109099846	109050765	ATCATAAG others(13): Show ATCATAAGGAATTAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0178 a0001c0001t0003g0178	1	182	0.0055	-20	c.279 others(39): Show c.279+43010_279+43029delATTTTTTTAATTCCTTATGA		SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9						chr6	TogoVar
SESN3_chr11_95160513_95236202	95160838	AACACACA others(13): Show AACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG03195.hp2 HG03688.hp1 HG02895.hp2 HG03195.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0030 a0001c0002t0046 a0001c0002t0048 a0001c0001t0030 a0001c0002t0046 a0001c0002t0048	a0001c0001t0030g0291 a0001c0002t0046g0071 a0001c0002t0048g0070 a0001c0001t0030g0291 a0001c0002t0046g0071 a0001c0002t0048g0070	3	65	0.0462	-20	c.12 others(33): Show c.12397_*12416delGTGTGTGTGTGTGTGTGTGT		SESN3	ENSG00000149212.12	transcript	ENST00000536441.7	protein_coding					4674		chr11	TogoVar
SESTD1_chr2_179096678_179269832	179149059	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0048 a0001c0003t0048	a0001c0003t0048g0148 a0001c0003t0048g0148	1	27	0.0370	-20	c.581 others(35): Show c.581+218_581+237delTTTTTTTTTTTTTTTTTTTT		SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	7/17						chr2	TogoVar
SESTD1_chr2_179096678_179269832	179230113	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03209.hp1 NA19043.hp2 others(1): Show HG01081.hp2 HG03209.hp1 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0060 a0001c0001t0012 a0001c0001t0060	a0001c0001t0012g0123 a0001c0001t0012g0124 a0001c0001t0012g0125 others(1): Show a0001c0001t0012g0123 a0001c0001t0012g0124 a0001c0001t0012g0125 a0001c0001t0060g0238	4	25	0.1600	-20	c.-26 others(39): Show c.-26+34366_-26+34385delAAAAAAAAAAAAAAAAAAAA		SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	1/17						chr2	TogoVar
SETBP1_chr18_44675888_45073510	44703348	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 NA19083.hp1 HG00735.hp1 HG00735.hp2 NA19083.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0008 a0001c0001t0001 a0003c0003t0008	a0001c0001t0001g0049 a0001c0001t0001g0076 a0003c0003t0008g0009 a0001c0001t0001g0049 a0001c0001t0001g0076 a0003c0003t0008g0009	3	40	0.0750	-20	c.486 others(37): Show c.486+1543_486+1562delTTTTTTTTTTTTTTTTTTTT		SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44868691	AGAGAGAG others(13): Show AGAGAGAGGACGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0004 a0004c0004t0001g0004	1	138	0.0072	-20	c.487 others(35): Show c.487-535_487-516delAGAGGACGGAAGGAAGGGAG		SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44868701	CGGAAGGA others(13): Show CGGAAGGAAGGGAGGAAGGAA	C C	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0054 a0004c0004t0001g0054	1	74	0.0135	-20	c.487 others(35): Show c.487-518_487-499delGAGGAAGGAAGGAAGGAAGG		SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44986923	AGTATAGT others(13): Show AGTATAGTATAGTATAGTATT	A A	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0007 a0005c0006t0001g0007	1	138	0.0072	-20	c.400 others(41): Show c.4000+33588_4000+33607delAGTATAGTATAGTATTGTAT		SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44989888	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	138	0.0072	-20	c.400 others(41): Show c.4000+36549_4000+36568delAAAAAAAAAAAAAAAAAAAT		SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	4/5						chr18	TogoVar
SETD1B_chr12_121799009_121837656	121834987	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0064 a0001c0001t0004g0064	1	110	0.0091	-20	c.47 others(31): Show c.4749_*4768delTTTCTTTCTTTCTTTCTTTC		SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding					2332		chr12	TogoVar
SETD2_chr3_47011436_47169113	47044344	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0149 a0002c0001t0001g0149	1	21	0.0476	-20	c.709 others(39): Show c.7099-1664_7099-1645delTTTTTTTTTTTTTTTTTTTT		SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	16/20						chr3	TogoVar
SETD5_chr3_9392615_9483154	9447504	CTAGCCTC others(13): Show CTAGCCTCTTTAGCTCATTTA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp2 HG02572.hp2 others(12): Show HG01081.hp2 HG02055.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02818.hp1 HG02886.hp2 HG02976.hp2 HG03139.hp1 HG03579.hp2 NA18906.hp1 NA19043.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 others(2): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0031	a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0117 others(12): Show a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0117 a0001c0001t0004g0119 a0001c0001t0004g0157 a0001c0001t0004g0176 a0001c0001t0004g0236 a0001c0001t0007g0112 a0001c0001t0007g0116 a0001c0001t0007g0121 a0001c0001t0007g0233 a0001c0001t0010g0234 a0001c0001t0015g0118 a0001c0001t0015g0120 a0001c0001t0031g0235	15	238	0.0630	-20	c.178 others(37): Show c.1783-181_1783-162delTAGCCTCTTTAGCTCATTTA		SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	14/22						chr3	TogoVar
SETD6_chr16_58510517_58528842	58522237	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0007 a0001c0001t0033g0007	2	22	0.0909	-20	c.32 others(31): Show c.3219_*3238delAAAAAAAAAAAAAAAAAAAA		SETD6	ENSG00000103037.12	transcript	ENST00000219315.9	protein_coding	8/8				3219	INFO_REALIGN_3_PRIME	chr16	TogoVar
SETDB2_chr13_49439274_49500003	49490897	TTCTTCAC others(13): Show TTCTTCACCAACAGGTTTGAA	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18940.hp2 NA18940.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0039 a0008c0011t0039	a0008c0011t0039g0050 a0008c0011t0039g0050	1	404	0.0025	-20	c.199 others(31): Show c.1994_2006+7delTCTTCACCAACAGGTTTGAA	p.Phe others(5): Show p.Phe665fs	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding	13/14	2919/6203	1994/2124	665/707			chr13	TogoVar
SETX_chr9_132256356_132359986	132256410	TGTATTTT others(13): Show TGTATTTTTAGTAGAGACAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG01167.hp2 others(51): Show HG00099.hp2 HG00408.hp2 HG01167.hp2 HG01192.hp1 HG01358.hp1 HG01433.hp1 HG01943.hp2 HG01952.hp2 HG02004.hp1 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG06807.hp2 NA18944.hp1 NA18946.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18964.hp1 NA18971.hp1 NA18977.hp1 NA18979.hp2 NA18983.hp2 NA18987.hp2 NA18991.hp2 NA18992.hp2 NA18999.hp1 NA19004.hp1 NA19011.hp2 NA19043.hp2 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19065.hp2 NA19067.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0012 a0017 a0019 a0029 a0030 a0035 a0037	a0001c0001 a0001c0038 a0002c0002 others(17): Show a0001c0001 a0001c0038 a0002c0002 a0003c0003 a0004c0005 a0004c0009 a0005c0004 a0006c0007 a0006c0012 a0006c0048 a0007c0006 a0008c0008 a0011c0015 a0012c0027 a0017c0022 a0019c0025 a0029c0041 a0030c0058 a0035c0056 a0037c0060	a0001c0001t0001 a0001c0001t0017 a0001c0038t0001 others(20): Show a0001c0001t0001 a0001c0001t0017 a0001c0038t0001 a0002c0002t0003 a0002c0002t0006 a0003c0003t0002 a0003c0003t0007 a0004c0005t0004 a0004c0009t0010 a0005c0004t0002 a0006c0007t0005 a0006c0012t0008 a0006c0048t0008 a0007c0006t0003 a0008c0008t0001 a0011c0015t0002 a0012c0027t0001 a0017c0022t0002 a0019c0025t0034 a0029c0041t0020 a0030c0058t0024 a0035c0056t0007 a0037c0060t0002	a0001c0001t0001g0010 a0001c0001t0001g0266 a0001c0001t0001g0278 others(51): Show a0001c0001t0001g0010 a0001c0001t0001g0266 a0001c0001t0001g0278 a0001c0001t0001g0286 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0329 a0001c0001t0001g0333 a0001c0001t0001g0336 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0017g0257 a0001c0038t0001g0276 a0002c0002t0003g0009 a0002c0002t0003g0015 a0002c0002t0003g0020 a0002c0002t0003g0023 a0002c0002t0003g0032 a0002c0002t0003g0033 a0002c0002t0003g0037 a0002c0002t0003g0041 a0002c0002t0003g0049 a0002c0002t0006g0036 a0002c0002t0006g0056 a0003c0003t0002g0068 a0003c0003t0002g0071 a0003c0003t0002g0206 a0003c0003t0002g0213 a0003c0003t0007g0179 a0004c0005t0004g0076 a0004c0009t0010g0186 a0005c0004t0002g0094 a0006c0007t0005g0158 a0006c0007t0005g0159 a0006c0012t0008g0234 a0006c0012t0008g0344 a0006c0048t0008g0151 a0007c0006t0003g0237 a0007c0006t0003g0238 a0007c0006t0003g0240 a0007c0006t0003g0242 a0008c0008t0001g0082 a0008c0008t0001g0235 a0011c0015t0002g0176 a0011c0015t0002g0178 a0012c0027t0001g0189 a0017c0022t0002g0019 a0019c0025t0034g0360 a0029c0041t0020g0180 a0030c0058t0024g0188 a0035c0056t0007g0173 a0037c0060t0002g0144	54	360	0.1500	-20	c.78 others(31): Show c.7809_*7828delCCTGTCTCTACTAAAAATAC		SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding					4945		chr9	TogoVar
SETX_chr9_132256356_132359986	132278437	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03540.hp2 HG06807.hp1 HG01361.hp1 HG03540.hp2 HG06807.hp1	a0020 a0025 a0020 a0025	a0020c0018 a0025c0043 a0020c0018 a0025c0043	a0020c0018t0012 a0025c0043t0012 a0020c0018t0012 a0025c0043t0012	a0020c0018t0012g0145 a0020c0018t0012g0146 a0025c0043t0012g0359 a0020c0018t0012g0145 a0020c0018t0012g0146 a0025c0043t0012g0359	3	16	0.1875	-20	c.665 others(37): Show c.6655-200_6655-181delAAAAAAAAAAAAAAAAAAAA		SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding	20/25						chr9	TogoVar
SETX_chr9_132256356_132359986	132357914	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01099.hp2 HG01358.hp2 others(26): Show HG00735.hp2 HG01099.hp2 HG01358.hp2 HG01884.hp1 HG01891.hp1 HG01943.hp2 HG02055.hp2 HG02145.hp1 HG02258.hp1 HG02572.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02970.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03540.hp1 HG03669.hp2 HG06807.hp2 NA18939.hp1 NA18964.hp1 NA18968.hp2 NA18984.hp1 NA18990.hp2 NA18994.hp2 NA20300.hp1	a0006 a0007 a0008 others(3): Show a0006 a0007 a0008 a0024 a0036 a0044	a0006c0007 a0007c0006 a0007c0016 others(5): Show a0006c0007 a0007c0006 a0007c0016 a0007c0036 a0008c0008 a0024c0030 a0036c0031 a0044c0040	a0006c0007t0005 a0006c0007t0026 a0007c0006t0003 others(7): Show a0006c0007t0005 a0006c0007t0026 a0007c0006t0003 a0007c0006t0013 a0007c0016t0011 a0007c0036t0011 a0008c0008t0001 a0024c0030t0001 a0036c0031t0003 a0044c0040t0005	a0006c0007t0005g0158 a0006c0007t0005g0159 a0006c0007t0005g0160 others(26): Show a0006c0007t0005g0158 a0006c0007t0005g0159 a0006c0007t0005g0160 a0006c0007t0005g0161 a0006c0007t0005g0162 a0006c0007t0005g0164 a0006c0007t0005g0165 a0006c0007t0005g0183 a0006c0007t0026g0182 a0007c0006t0003g0236 a0007c0006t0003g0237 a0007c0006t0003g0239 a0007c0006t0003g0241 a0007c0006t0003g0242 a0007c0006t0003g0244 a0007c0006t0003g0245 a0007c0006t0003g0246 a0007c0006t0003g0251 a0007c0006t0003g0254 a0007c0006t0013g0243 a0007c0006t0013g0249 a0007c0006t0013g0250 a0007c0016t0011g0247 a0007c0016t0011g0248 a0007c0036t0011g0356 a0008c0008t0001g0235 a0024c0030t0001g0253 a0036c0031t0003g0252 a0044c0040t0005g0163	29	113	0.2566	-20	c.-31 others(31): Show c.-3132_-3113delATTTATTTATTTATTTATTT		SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding					2929		chr9	TogoVar
SEZ6L_chr22_26164462_26388596	26291976	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0008 a0008	a0008c0031 a0008c0031	a0008c0031t0001 a0008c0031t0001	a0008c0031t0001g0162 a0008c0031t0001g0162	1	136	0.0074	-20	c.95- others(33): Show c.95-388_95-369delAGGAAGGAAGGAAGGAAGGA		SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26292018	AGGAAGGA others(13): Show AGGAAGGAAGGAAGGAAGGAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02922.hp1 NA18986.hp2 others(2): Show HG02040.hp2 HG02922.hp1 NA18986.hp2 NA18989.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0003t0002 a0001c0003t0003 others(2): Show a0001c0001t0002 a0001c0003t0002 a0001c0003t0003 a0002c0002t0002 a0002c0002t0004	a0001c0001t0002g0085 a0001c0003t0002g0051 a0001c0003t0003g0052 others(2): Show a0001c0001t0002g0085 a0001c0003t0002g0051 a0001c0003t0003g0052 a0002c0002t0002g0188 a0002c0002t0004g0186	5	238	0.0210	-20	c.95- others(33): Show c.95-384_95-365delAGGAAGGAAGGAAGGATGGA		SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26304369	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0009 a0009	a0009c0028 a0009c0028	a0009c0028t0016 a0009c0028t0016	a0009c0028t0016g0139 a0009c0028t0016g0139	1	114	0.0088	-20	c.134 others(39): Show c.1349-1567_1349-1548delGAAAGAAAGAAAGAAAGAAA		SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348642	AAGAAAAA others(13): Show AAGAAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0001 a0001c0003t0002g0041 a0001c0003t0002g0001 a0001c0003t0002g0041	3	233	0.0129	-20	c.240 others(37): Show c.2407+731_2407+750delGAAAAAGAAAGAAAGAAAGA		SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3B3_chr16_70518816_70582668	70530127	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02717.hp2 HG02257.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0235 a0001c0002t0027g0236 a0001c0002t0027g0235 a0001c0002t0027g0236	2	38	0.0526	-20	c.398 others(35): Show c.398-591_398-572delATAAATAAATAAATAAATAA		SF3B3	ENSG00000189091.13	transcript	ENST00000302516.10	protein_coding	3/25					INFO_REALIGN_3_PRIME	chr16	TogoVar
SFI1_chr22_31491536_31623588	31518910	TTATCACA others(13): Show TTATCACAATTCATTGCCGGA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0170 a0003c0003t0001g0170	1	320	0.0031	-20	c.93- others(35): Show c.93-9779_93-9760delTATCACAATTCATTGCCGGA		SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	2/32						chr22	TogoVar

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