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
SEMA3C_chr7_80737538_80924051	80815554	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01258.hp2 HG01358.hp1 others(9): Show HG00438.hp1 HG01258.hp2 HG01358.hp1 HG02155.hp1 HG02300.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp2 NA18953.hp1 NA19068.hp2 NA19077.hp1 NA20905.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0009 a0002c0005 a0002c0010 others(3): Show a0001c0009 a0002c0005 a0002c0010 a0002c0018 a0002c0019 a0007c0026	a0001c0009t0007 a0002c0005t0001 a0002c0005t0015 others(4): Show a0001c0009t0007 a0002c0005t0001 a0002c0005t0015 a0002c0010t0001 a0002c0018t0008 a0002c0019t0002 a0007c0026t0003	a0001c0009t0007g0005 a0001c0009t0007g0006 a0002c0005t0001g0077 others(9): Show a0001c0009t0007g0005 a0001c0009t0007g0006 a0002c0005t0001g0077 a0002c0005t0001g0111 a0002c0005t0001g0112 a0002c0005t0015g0211 a0002c0010t0001g0106 a0002c0010t0001g0117 a0002c0010t0001g0137 a0002c0018t0008g0115 a0002c0019t0002g0207 a0007c0026t0003g0066	12	244	0.0492	20	c.447 others(37): Show c.447+2744_447+2745insTTTTTTTTTTTTTTTTTTTT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	5/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80863903	A A	ACATATAT others(13): Show ACATATATATCACATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp2 HG02922.hp1 others(3): Show HG01243.hp1 HG02486.hp2 HG02922.hp1 HG03195.hp2 HG03209.hp2 HG03516.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0007 a0001c0023 others(1): Show a0001c0002 a0001c0007 a0001c0023 a0004c0015	a0001c0002t0001 a0001c0002t0004 a0001c0007t0003 others(2): Show a0001c0002t0001 a0001c0002t0004 a0001c0007t0003 a0001c0023t0006 a0004c0015t0003	a0001c0002t0001g0054 a0001c0002t0004g0052 a0001c0007t0003g0056 others(3): Show a0001c0002t0001g0054 a0001c0002t0004g0052 a0001c0007t0003g0056 a0001c0023t0006g0055 a0004c0015t0003g0051 a0004c0015t0003g0053	6	244	0.0246	20	c.104 others(39): Show c.104-35178_104-35159dupATATATATGTGATATATATG	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80901994	C C	CCAGGCTG others(13): Show CCAGGCTGGAGTGCAGTGGCG	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	244	0.0041	20	c.103 others(39): Show c.103+14665_103+14684dupCGCCACTGCACTCCAGCCTG	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80905267	A A	AGAGAGAG others(13): Show AGAGAGAGGGGGAGAGAGGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp2 HG03195.hp2 others(2): Show HG01243.hp1 HG02486.hp2 HG03195.hp2 HG03209.hp2 HG03516.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0007 a0001c0023 others(1): Show a0001c0002 a0001c0007 a0001c0023 a0004c0015	a0001c0002t0001 a0001c0007t0003 a0001c0023t0006 others(1): Show a0001c0002t0001 a0001c0007t0003 a0001c0023t0006 a0004c0015t0003	a0001c0002t0001g0054 a0001c0007t0003g0056 a0001c0023t0006g0055 others(2): Show a0001c0002t0001g0054 a0001c0007t0003g0056 a0001c0023t0006g0055 a0004c0015t0003g0051 a0004c0015t0003g0053	5	244	0.0205	20	c.103 others(39): Show c.103+11392_103+11411dupCCCCTCTCTCCCCCTCTCTC	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85056890	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0233 a0002c0003t0006g0233	1	266	0.0038	20	c.719 others(37): Show c.719-1051_719-1032dupATATATATATATATATATAT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	8/18			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85066892	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02257.hp2 HG02572.hp2 others(4): Show HG00639.hp1 HG02257.hp2 HG02572.hp2 HG02630.hp2 HG02965.hp2 HG03453.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0003 a0001c0001t0001 a0001c0001t0005 a0002c0002t0003	a0001c0001t0001g0058 a0001c0001t0005g0037 a0001c0001t0005g0038 others(4): Show a0001c0001t0001g0058 a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0005g0047 a0001c0001t0005g0141 a0001c0001t0005g0145 a0002c0002t0003g0032	7	266	0.0263	20	c.589 others(37): Show c.589+1279_589+1298dupTGTGTGTGTGTGTGTGTGTG	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	7/18			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85091117	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAGGGAAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0161 a0002c0002t0006g0161	1	266	0.0038	20	c.312 others(37): Show c.312+6668_312+6687dupCTTCCCTCCTTCCTTCCTTC	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	4/18			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83460611	T T	TCTGGGGA others(13): Show TCTGGGGAGGGGCAAGGACCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0068 a0002c0012t0068	a0002c0012t0068g0068 a0002c0012t0068g0068	1	226	0.0044	20	c.456 others(37): Show c.456+5870_456+5871insGGGTCCTTGCCCCTCCCCAG	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	4/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83539855	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0071 a0001c0002t0071	a0001c0002t0071g0107 a0001c0002t0071g0107	1	226	0.0044	20	c.116 others(39): Show c.116-49601_116-49582dupCACACACACACACACACACA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83570552	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0066 a0003c0009t0066	a0003c0009t0066g0067 a0003c0009t0066g0067	1	226	0.0044	20	c.115 others(39): Show c.115+77856_115+77875dupTTTTTTTTTTTTTTTTTTTT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83619904	C C	CAGACAGA others(13): Show CAGACAGACAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0087 a0001c0002t0014g0087	1	226	0.0044	20	c.115 others(39): Show c.115+28523_115+28524insATCTATCTATCTGTCTGTCT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89424681	C C	CTCCCCCA others(13): Show CTCCCCCACCTCTGCCCAATG	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19085.hp2 HG00408.hp2 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0143 a0001c0003t0007g0241 a0001c0003t0007g0143 a0001c0003t0007g0241	2	370	0.0054	20	c.-24 others(41): Show c.-243-19002_-243-18983dupCATTGGGCAGAGGTGGGGGA	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89443128	C C	CCAGCCCC others(13): Show CCAGCCCCATCAGGTCCCCTA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0323 a0001c0003t0002g0323	1	370	0.0027	20	c.-24 others(41): Show c.-244+12740_-244+12759dupTAGGGGACCTGATGGGGCTG	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89450660	G G	GGAAAAAA others(13): Show GGAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	370	0.0027	20	c.-24 others(39): Show c.-244+5227_-244+5228insTTTTTTTTTTTTTTTTTTTC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9049151	A A	ATTATTTA others(13): Show ATTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp2 NA19012.hp2 NA18964.hp1 NA18964.hp2 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0005 a0001c0002t0002 a0001c0004t0005	a0001c0002t0002g0099 a0001c0004t0005g0044 a0001c0004t0005g0050 a0001c0002t0002g0099 a0001c0004t0005g0044 a0001c0004t0005g0050	3	134	0.0224	20	c.289 others(39): Show c.2893+1239_2893+1258dupATAAATAAATAAATAAATAA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	21/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9088636	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp1 HG02683.hp2 others(2): Show HG01243.hp1 HG02451.hp1 HG02683.hp2 HG02976.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0011 a0001c0001t0064 a0001c0003t0006 others(2): Show a0001c0001t0011 a0001c0001t0064 a0001c0003t0006 a0001c0007t0016 a0001c0007t0025	a0001c0001t0011g0028 a0001c0001t0064g0127 a0001c0003t0006g0074 others(2): Show a0001c0001t0011g0028 a0001c0001t0064g0127 a0001c0003t0006g0074 a0001c0007t0016g0095 a0001c0007t0025g0062	5	134	0.0373	20	c.207 others(41): Show c.2073+19503_2073+19504insTATATATATATATATATATA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	16/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9088637	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp2 HG03516.hp2 others(1): Show HG02559.hp1 HG02647.hp2 HG03516.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0015 a0001c0001 a0001c0006 a0001c0015	a0001c0001t0033 a0001c0001t0078 a0001c0006t0044 others(1): Show a0001c0001t0033 a0001c0001t0078 a0001c0006t0044 a0001c0015t0008	a0001c0001t0033g0057 a0001c0001t0078g0109 a0001c0006t0044g0009 others(1): Show a0001c0001t0033g0057 a0001c0001t0078g0109 a0001c0006t0044g0009 a0001c0015t0008g0112	4	134	0.0299	20	c.207 others(41): Show c.2073+19483_2073+19502dupATATATATATATATATATAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	16/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9088659	T T	TATATATA others(13): Show TATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01981.hp2 HG02602.hp1 HG00738.hp1 HG01981.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0023 a0001c0001t0001 a0001c0001t0014 a0001c0001t0023	a0001c0001t0001g0019 a0001c0001t0014g0077 a0001c0001t0023g0017 a0001c0001t0001g0019 a0001c0001t0014g0077 a0001c0001t0023g0017	3	134	0.0224	20	c.207 others(41): Show c.2073+19480_2073+19481insGTGTGTATATATATATATAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	16/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9154093	A A	ATATATAT others(13): Show ATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0099 a0001c0002t0002g0099	1	134	0.0075	20	c.148 others(37): Show c.1481+394_1481+395insCACACACACACATATATATA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	12/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9197728	T T	TTGTATGT others(13): Show TTGTATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG02040.hp1 HG00140.hp1 HG00280.hp2 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0009 a0001c0002t0047 a0001c0002t0001 a0001c0002t0009 a0001c0002t0047	a0001c0002t0001g0071 a0001c0002t0009g0003 a0001c0002t0047g0053 a0001c0002t0001g0071 a0001c0002t0009g0003 a0001c0002t0047g0053	3	134	0.0224	20	c.933 others(35): Show c.933-426_933-425insCACACACACACACACATACA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	9/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9207102	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA18906.hp1 HG00642.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0015 a0001c0002 a0001c0015	a0001c0002t0022 a0001c0015t0008 a0001c0002t0022 a0001c0015t0008	a0001c0002t0022g0073 a0001c0015t0008g0112 a0001c0002t0022g0073 a0001c0015t0008g0112	2	134	0.0149	20	c.647 others(37): Show c.647-4882_647-4863dupTATATATATATATATATATA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	8/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9305708	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0026 a0001c0002t0004g0026	1	134	0.0075	20	c.270 others(39): Show c.270+12663_270+12664insTATATATATATATATATACA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	5/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353189	G G	GGGAAAGG others(13): Show GGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp1 HG01981.hp2 others(8): Show HG00280.hp1 HG00673.hp1 HG01981.hp2 HG02602.hp2 HG02683.hp1 HG03209.hp2 HG03471.hp2 NA18906.hp1 NA18966.hp1 NA18966.hp2 NA18991.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0015 a0004c0019	a0001c0001t0023 a0001c0002t0082 a0001c0003t0002 others(8): Show a0001c0001t0023 a0001c0002t0082 a0001c0003t0002 a0001c0004t0001 a0001c0004t0049 a0001c0005t0002 a0001c0005t0052 a0001c0007t0031 a0001c0008t0004 a0001c0015t0008 a0004c0019t0059	a0001c0001t0023g0017 a0001c0002t0082g0134 a0001c0003t0002g0102 others(8): Show a0001c0001t0023g0017 a0001c0002t0082g0134 a0001c0003t0002g0102 a0001c0004t0001g0039 a0001c0004t0049g0011 a0001c0005t0002g0115 a0001c0005t0052g0097 a0001c0007t0031g0012 a0001c0008t0004g0066 a0001c0015t0008g0112 a0004c0019t0059g0089	11	134	0.0821	20	c.125 others(39): Show c.125-15397_125-15378dupTTTCCTTTCCTTTCCTTTCC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353386	A A	AGGAAAGG others(13): Show AGGAAAGGAAAGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03579.hp2 HG03453.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0067 a0001c0010t0076 a0001c0001t0067 a0001c0010t0076	a0001c0001t0067g0128 a0001c0010t0076g0125 a0001c0001t0067g0128 a0001c0010t0076g0125	2	134	0.0149	20	c.125 others(39): Show c.125-15575_125-15574insCTTCCTTTCCTTTCCTTTCC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9384559	G G	GATAGATA others(13): Show GATAGATAGATAGATAGATAC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19068.hp2 NA18966.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0063 a0001c0005t0002 a0001c0002t0063 a0001c0005t0002	a0001c0002t0063g0100 a0001c0005t0002g0115 a0001c0002t0063g0100 a0001c0005t0002g0115	2	134	0.0149	20	c.-77 others(37): Show c.-77-4537_-77-4536insGTATCTATCTATCTATCTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9400501	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	134	0.0075	20	c.-77 others(39): Show c.-77-20498_-77-20479dupAAAAAAAAAAAAAAAAAAAA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9426432	T T	TAAATAAA others(13): Show TAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01123.hp2 HG02040.hp1 others(13): Show HG00738.hp1 HG01123.hp2 HG02040.hp1 HG02683.hp1 HG02896.hp2 HG03225.hp2 HG03579.hp1 NA18522.hp2 NA18906.hp1 NA18944.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA18966.hp1 NA18970.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0015	a0001c0001t0011 a0001c0001t0014 a0001c0001t0030 others(12): Show a0001c0001t0011 a0001c0001t0014 a0001c0001t0030 a0001c0001t0077 a0001c0001t0081 a0001c0002t0047 a0001c0003t0002 a0001c0004t0001 a0001c0004t0005 a0001c0004t0069 a0001c0005t0001 a0001c0006t0001 a0001c0008t0004 a0001c0009t0002 a0001c0015t0008	a0001c0001t0011g0075 a0001c0001t0014g0077 a0001c0001t0030g0032 others(13): Show a0001c0001t0011g0075 a0001c0001t0014g0077 a0001c0001t0030g0032 a0001c0001t0077g0101 a0001c0001t0081g0133 a0001c0002t0047g0053 a0001c0003t0002g0102 a0001c0004t0001g0041 a0001c0004t0005g0050 a0001c0004t0069g0103 a0001c0005t0001g0052 a0001c0005t0001g0054 a0001c0006t0001g0078 a0001c0008t0004g0066 a0001c0009t0002g0113 a0001c0015t0008g0112	16	134	0.1194	20	c.-78 others(39): Show c.-78+11304_-78+11323dupTATTTTATTTTATTTTATTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5B_chr3_122904082_123032763	122908291	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02027.hp1 HG02109.hp2 others(6): Show HG01496.hp1 HG02027.hp1 HG02109.hp2 HG02257.hp1 HG02698.hp2 HG02818.hp1 HG03195.hp2 HG03927.hp1 NA19077.hp1	a0001 a0002 a0013 others(1): Show a0001 a0002 a0013 a0020	a0001c0005 a0002c0002 a0013c0015 others(1): Show a0001c0005 a0002c0002 a0013c0015 a0020c0020	a0001c0005t0003 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0005t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0025 a0013c0015t0001 a0020c0020t0003	a0001c0005t0003g0173 a0001c0005t0003g0195 a0002c0002t0001g0128 others(6): Show a0001c0005t0003g0173 a0001c0005t0003g0195 a0002c0002t0001g0128 a0002c0002t0001g0254 a0002c0002t0002g0202 a0002c0002t0002g0241 a0002c0002t0025g0106 a0013c0015t0001g0250 a0020c0020t0003g0029	9	290	0.0310	20	c.18 others(31): Show c.1851_*1852insATTTATTTATTTATTTATTT	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding		790		chr3	TogoVar
SEMA5B_chr3_122904082_123032763	122935686	C C	CTTTCTTT others(13): Show CTTTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG01167.hp2 others(3): Show HG00642.hp1 HG00738.hp2 HG01167.hp2 HG02145.hp1 HG02698.hp2 HG03017.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0015 a0001c0001 a0013c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0013c0015t0001	a0001c0001t0001g0098 a0001c0001t0001g0112 a0001c0001t0001g0133 others(3): Show a0001c0001t0001g0098 a0001c0001t0001g0112 a0001c0001t0001g0133 a0001c0001t0002g0121 a0001c0001t0013g0010 a0013c0015t0001g0250	6	290	0.0207	20	c.474 others(37): Show c.474+3738_474+3739insAAAAAAAAAAAAAAAAGAAA	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	5/22			chr3	TogoVar
SEMA5B_chr3_122904082_123032763	122935686	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG03516.hp2 others(1): Show HG00408.hp1 HG00558.hp2 HG03516.hp2 NA19084.hp1	a0002 a0013 a0002 a0013	a0002c0002 a0013c0015 a0002c0002 a0013c0015	a0002c0002t0001 a0002c0002t0002 a0013c0015t0001 a0002c0002t0001 a0002c0002t0002 a0013c0015t0001	a0002c0002t0001g0154 a0002c0002t0001g0192 a0002c0002t0002g0236 others(1): Show a0002c0002t0001g0154 a0002c0002t0001g0192 a0002c0002t0002g0236 a0013c0015t0001g0060	4	290	0.0138	20	c.474 others(37): Show c.474+3719_474+3738dupAAAAAAAAAAAAAAAAAAAA	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	5/22			chr3	TogoVar
SEMA6A_chr5_116438555_116579823	116448196	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0021 a0001c0003t0004g0021	1	304	0.0033	20	c.189 others(37): Show c.1895-386_1895-385insATTTTTTTTTTTTTTTTTTT	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	18/18			chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116536866	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0058 a0001c0003t0058	a0001c0003t0058g0164 a0001c0003t0058g0164	1	304	0.0033	20	c.-38 others(39): Show c.-38-31904_-38-31885dupTTTTTTTTTTTTTTTTTTTT	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	1/18			chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116579517	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG01175.hp1 others(14): Show HG00280.hp1 HG00738.hp2 HG01175.hp1 HG01346.hp2 HG01884.hp1 HG01891.hp2 HG01952.hp1 HG02015.hp1 HG02055.hp2 HG02523.hp1 HG02723.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03492.hp1 HG03710.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(10): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0030 a0001c0001t0034 a0001c0001t0041 a0001c0001t0053 a0001c0001t0070 a0001c0001t0079 a0001c0004t0003	a0001c0001t0002g0215 a0001c0001t0002g0219 a0001c0001t0002g0223 others(14): Show a0001c0001t0002g0215 a0001c0001t0002g0219 a0001c0001t0002g0223 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0010g0226 a0001c0001t0016g0230 a0001c0001t0016g0244 a0001c0001t0018g0199 a0001c0001t0019g0161 a0001c0001t0030g0246 a0001c0001t0034g0273 a0001c0001t0041g0150 a0001c0001t0053g0201 a0001c0001t0070g0232 a0001c0001t0079g0293 a0001c0004t0003g0200	17	304	0.0559	20	c.-53 others(31): Show c.-5372_-5371insGAAAGAAAGAAAGAAAGAAA	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding		4695		chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116579584	C C	CTTTCTTT others(13): Show CTTTCTTTTCTTTTCTTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0077 a0001c0017t0077	a0001c0017t0077g0277 a0001c0017t0077g0277	1	304	0.0033	20	c.-54 others(31): Show c.-5439_-5438insAGAAAAGAAAAGAAAAGAAA	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding		4762		chr5	TogoVar
SEMA6B_chr19_4537593_4564684	4553379	G G	GTGGATGG others(13): Show GTGGATGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02523.hp2 HG03471.hp2 HG02071.hp1 HG02523.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0001t0002 a0001c0002t0004	a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0002t0004g0106 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0002t0004g0106	3	440	0.0068	20	c.772 others(35): Show c.772-760_772-741dupTCCATCCATCCATCCATCCA	SEMA6B	ENSG00000167680.17	transcript	ENST00000586582.6	protein_coding	9/16			chr19	TogoVar
SEMA6D_chr15_47712505_47779228	47746984	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01516.hp2 others(4): Show HG01257.hp1 HG01258.hp2 HG01516.hp2 HG01517.hp2 NA18962.hp1 NA18980.hp2 NA19070.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0016 a0002c0003t0023 a0002c0003t0004 a0002c0003t0016 a0002c0003t0023	a0002c0003t0004g0026 a0002c0003t0016g0024 a0002c0003t0016g0111 others(2): Show a0002c0003t0004g0026 a0002c0003t0016g0024 a0002c0003t0016g0111 a0002c0003t0023g0151 a0002c0003t0023g0154	7	388	0.0180	20	c.-54 others(39): Show c.-54-12742_-54-12741insATATATATATATATATATAT	SEMA6D	ENSG00000137872.17	transcript	ENST00000536845.7	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SEMA6D_chr15_47712505_47779228	47772357	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp1 HG03516.hp2 HG02965.hp1 HG03516.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0033 a0003c0005t0033	a0003c0005t0033g0326 a0003c0005t0033g0336 a0003c0005t0033g0326 a0003c0005t0033g0336	2	388	0.0052	20	c.58 others(29): Show c.587_*606dupGTGTGTGTGTGTGTGTGTGT	SEMA6D	ENSG00000137872.17	transcript	ENST00000536845.7	protein_coding	19/19	607	INFO_REALIGN_3_PRIME	chr15	TogoVar
SEMG1_chr20_45202033_45214768	45203535	G G	GTATATGT others(13): Show GTATATGTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	408	0.0025	20	c.-35 others(31): Show c.-3519_-3518insTATATGTATATATATATATA	SEMG1	ENSG00000124233.12	transcript	ENST00000372781.4	protein_coding		3497		chr20	TogoVar
SEMG1_chr20_45202033_45214768	45212119	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	408	0.0025	20	c.25 others(31): Show c.2563_*2564insAGAAAGAAAGAAAGAAAGAA	SEMG1	ENSG00000124233.12	transcript	ENST00000372781.4	protein_coding		2352		chr20	TogoVar
SEMG2_chr20_45216373_45229458	45225520	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02451.hp1 others(8): Show HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02717.hp2 NA18522.hp1 NA18993.hp2 NA18998.hp1 NA19011.hp2 NA19043.hp2 NA19060.hp1 NA19075.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0012 a0001c0001 a0002c0002 a0010c0012	a0001c0001t0001 a0002c0002t0001 a0010c0012t0001 a0001c0001t0001 a0002c0002t0001 a0010c0012t0001	a0001c0001t0001g0003 a0002c0002t0001g0002 a0010c0012t0001g0002 a0001c0001t0001g0003 a0002c0002t0001g0002 a0010c0012t0001g0002	11	362	0.0304	20	c.12 others(31): Show c.1274_*1275insAAAGAAAGAAAGAAAGAAAG	SEMG2	ENSG00000124157.7	transcript	ENST00000372769.4	protein_coding		1063		chr20	TogoVar
SENP1_chr12_48037897_48111079	48078317	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02486.hp1 HG03239.hp1 HG01361.hp2 HG02486.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0017 a0001c0001t0004 a0001c0001t0017	a0001c0001t0004g0276 a0001c0001t0004g0316 a0001c0001t0017g0317 a0001c0001t0004g0276 a0001c0001t0004g0316 a0001c0001t0017g0317	3	394	0.0076	20	c.553 others(37): Show c.553-3525_553-3524insTATATATATATATATATATA	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02602.hp2 HG03540.hp2 others(1): Show HG02293.hp2 HG02602.hp2 HG03540.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0021 a0001c0001t0001g0064 a0001c0001t0003g0271 others(1): Show a0001c0001t0001g0021 a0001c0001t0001g0064 a0001c0001t0003g0271 a0001c0001t0005g0232	4	394	0.0102	20	c.553 others(37): Show c.553-3542_553-3541insGTATATATATATATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP2_chr3_185581295_185638551	185587570	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18612.hp1 NA18946.hp2 others(3): Show HG01261.hp1 NA18612.hp1 NA18946.hp2 NA18977.hp1 NA18995.hp2 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0016 a0002c0002t0085 others(3): Show a0002c0002t0007 a0002c0002t0016 a0002c0002t0085 a0002c0002t0086 a0002c0002t0092 a0002c0002t0096	a0002c0002t0007g0285 a0002c0002t0016g0284 a0002c0002t0085g0287 others(3): Show a0002c0002t0007g0285 a0002c0002t0016g0284 a0002c0002t0085g0287 a0002c0002t0086g0286 a0002c0002t0092g0288 a0002c0002t0096g0289	6	360	0.0167	20	c.101 others(37): Show c.101+1070_101+1071insTTTTTTTTTTTTTTTTTTTT	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP2_chr3_185581295_185638551	185623826	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0088 a0002c0002t0088	a0002c0002t0088g0326 a0002c0002t0088g0326	1	360	0.0028	20	c.152 others(37): Show c.1527-167_1527-148dupAAAAAAAAAAAAAAAAAAAA	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP2_chr3_185581295_185638551	185631477	T T	TCTCCCTC others(13): Show TCTCCCTCCCTCCCCCTCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0237 a0002c0002t0237	a0002c0002t0237g0009 a0002c0002t0237g0009	1	360	0.0028	20	c.16 others(31): Show c.1634_*1635insTCCCTCCCTCCCCCTCCCCC	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	17/17	1635	INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0298 a0001c0002t0003g0298	1	306	0.0033	20	c.188 others(39): Show c.1885-8827_1885-8826insAAAAAAAAAAAAAATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	306	0.0033	20	c.188 others(39): Show c.1885-8827_1885-8826insAAAAAAAAAAAATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18983.hp2 NA18999.hp1 HG03516.hp1 NA18983.hp2 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0006 a0001c0002t0043 a0001c0002t0005 a0001c0002t0006 a0001c0002t0043	a0001c0002t0005g0116 a0001c0002t0006g0281 a0001c0002t0043g0193 a0001c0002t0005g0116 a0001c0002t0006g0281 a0001c0002t0043g0193	3	306	0.0098	20	c.188 others(39): Show c.1885-8827_1885-8826insAAAAAAAAAATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0128 a0001c0002t0008g0128	1	306	0.0033	20	c.188 others(39): Show c.1885-8827_1885-8826insAAAAAAAATATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP6_chr6_75596880_75723281	75705924	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0041 a0002c0003t0003g0041	1	362	0.0028	20	c.271 others(39): Show c.2716+2852_2716+2853insTTTTTTTTTTTTTTTTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	19/23			chr6	TogoVar

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