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
SEMA4A_chr1_156148585_156182744	156172092	GTTTGTTT others(5): Show GTTTGTTTATTTA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG00642.hp2 others(68): Show HG00438.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01192.hp1 HG01256.hp2 HG01891.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02071.hp2 HG02080.hp1 HG02148.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02735.hp2 HG02809.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18952.hp2 NA18957.hp1 NA18966.hp1 NA18974.hp1 NA18980.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp2 NA19062.hp2 NA19063.hp1 NA19067.hp1 NA19075.hp1 NA19077.hp2 NA19078.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp1 NA19090.hp2 NA20129.hp1 NA20905.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0001c0002 a0001c0012 others(2): Show a0001c0001 a0001c0002 a0001c0012 a0006c0013 a0008c0008	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0012t0001 a0006c0013t0001 a0008c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0021 others(47): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0003g0052 a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0057 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0002g0064 a0001c0012t0001g0059 a0006c0013t0001g0001 a0008c0008t0001g0001	71	374	0.1898	-12	c.113 others(29): Show c.1135-730_1135-719delGTTTATTTATTT	SEMA4A	ENSG00000196189.14	transcript	ENST00000368285.8	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA4A_chr1_156148585_156182744	156179113	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(68): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG02004.hp1 HG02027.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02717.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03130.hp2 HG03239.hp2 HG03471.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp2 NA18522.hp1 NA18906.hp2 NA18942.hp1 NA18946.hp2 NA18951.hp1 NA18962.hp2 NA18973.hp2 NA18977.hp2 NA18983.hp2 NA18993.hp1 NA19002.hp1 NA19060.hp2 NA19084.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0016 a0001c0002 a0004c0016	a0001c0002t0002 a0004c0016t0002 a0001c0002t0002 a0004c0016t0002	a0001c0002t0002g0003 a0001c0002t0002g0005 a0001c0002t0002g0011 others(52): Show a0001c0002t0002g0003 a0001c0002t0002g0005 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0020 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0048 a0001c0002t0002g0055 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0002g0075 a0001c0002t0002g0095 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0139 a0001c0002t0002g0181 a0001c0002t0002g0220 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0277 a0001c0002t0002g0284 a0004c0016t0002g0061	71	374	0.1898	-12	c.21 others(23): Show c.2117_*2128delTGTGTGTGTGTG	SEMA4A	ENSG00000196189.14	transcript	ENST00000368285.8	protein_coding		1370		chr1	TogoVar
SEMA4D_chr9_89372235_89503113	89372350	TGTGGTGT others(5): Show TGTGGTGTGTGTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0211 a0001c0003t0001g0211	1	370	0.0027	-12	c.63 others(23): Show c.6342_*6353delGACACACACCAC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding		4884		chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89413841	TGCATCTG others(5): Show TGCATCTGTGTGC	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0152 a0002c0002t0001g0152	1	370	0.0027	-12	c.-24 others(31): Show c.-243-8154_-243-8143delGCACACAGATGC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89450660	GAAAAAAA others(5): Show GAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0040 a0003c0005t0040	a0003c0005t0040g0217 a0003c0005t0040g0217	1	370	0.0027	-12	c.-24 others(31): Show c.-244+5216_-244+5227delTTTTTTTTTTTT	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9076868	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG01257.hp2 others(10): Show HG00280.hp2 HG00642.hp2 HG01257.hp2 HG01515.hp1 HG01517.hp1 HG02280.hp2 HG02559.hp2 HG02809.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03831.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0011 a0001c0013 a0001c0016 a0001c0017 a0001c0021	a0001c0001t0015 a0001c0002t0009 a0001c0002t0022 others(8): Show a0001c0001t0015 a0001c0002t0009 a0001c0002t0022 a0001c0004t0062 a0001c0007t0025 a0001c0011t0037 a0001c0011t0073 a0001c0013t0036 a0001c0016t0038 a0001c0017t0074 a0001c0021t0020	a0001c0001t0015g0092 a0001c0001t0015g0093 a0001c0002t0009g0002 others(10): Show a0001c0001t0015g0092 a0001c0001t0015g0093 a0001c0002t0009g0002 a0001c0002t0009g0003 a0001c0002t0022g0073 a0001c0004t0062g0114 a0001c0007t0025g0062 a0001c0011t0037g0065 a0001c0011t0073g0119 a0001c0013t0036g0008 a0001c0016t0038g0037 a0001c0017t0074g0105 a0001c0021t0020g0004	13	134	0.0970	-12	c.207 others(33): Show c.2074-10234_2074-10223delCACACACACACA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	16/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9083578	TCATCCAT others(5): Show TCATCCATTCATC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00639.hp2 others(19): Show HG00140.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01255.hp1 HG01257.hp1 HG02602.hp2 HG02683.hp2 HG03516.hp1 HG04115.hp1 HG04115.hp2 HG06807.hp2 NA18961.hp2 NA18970.hp2 NA18991.hp1 NA19012.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0004c0019	a0001c0001t0001 a0001c0001t0014 a0001c0001t0024 others(15): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0024 a0001c0001t0028 a0001c0001t0039 a0001c0001t0046 a0001c0001t0068 a0001c0002t0040 a0001c0002t0060 a0001c0003t0001 a0001c0003t0006 a0001c0003t0079 a0001c0004t0001 a0001c0004t0005 a0001c0005t0001 a0001c0006t0001 a0001c0006t0014 a0004c0019t0059	a0001c0001t0001g0018 a0001c0001t0001g0043 a0001c0001t0014g0077 others(19): Show a0001c0001t0001g0018 a0001c0001t0001g0043 a0001c0001t0014g0077 a0001c0001t0024g0025 a0001c0001t0028g0006 a0001c0001t0039g0072 a0001c0001t0046g0023 a0001c0001t0068g0129 a0001c0002t0040g0058 a0001c0002t0060g0085 a0001c0003t0001g0027 a0001c0003t0006g0074 a0001c0003t0079g0126 a0001c0004t0001g0020 a0001c0004t0001g0039 a0001c0004t0005g0044 a0001c0005t0001g0051 a0001c0005t0001g0054 a0001c0006t0001g0024 a0001c0006t0001g0078 a0001c0006t0014g0060 a0004c0019t0059g0089	22	134	0.1642	-12	c.207 others(33): Show c.2074-16944_2074-16933delGATGAATGGATG	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	16/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9109028	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG00738.hp1 others(22): Show HG00639.hp1 HG00735.hp1 HG00738.hp1 HG01123.hp2 HG01257.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01981.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03579.hp1 NA18522.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0010 others(5): Show a0001c0001 a0001c0003 a0001c0010 a0001c0011 a0001c0017 a0001c0018 a0001c0021 a0003c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0039 a0001c0001t0061 a0001c0001t0067 a0001c0001t0077 a0001c0001t0081 a0001c0003t0080 a0001c0010t0075 a0001c0011t0037 a0001c0011t0073 a0001c0017t0074 a0001c0018t0002 a0001c0021t0020 a0003c0020t0071	a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0038 others(22): Show a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0076 a0001c0001t0002g0131 a0001c0001t0011g0075 a0001c0001t0014g0077 a0001c0001t0015g0092 a0001c0001t0015g0093 a0001c0001t0017g0091 a0001c0001t0023g0017 a0001c0001t0024g0025 a0001c0001t0039g0072 a0001c0001t0061g0116 a0001c0001t0067g0128 a0001c0001t0077g0101 a0001c0001t0081g0133 a0001c0003t0080g0132 a0001c0010t0075g0107 a0001c0011t0037g0065 a0001c0011t0073g0119 a0001c0017t0074g0105 a0001c0018t0002g0130 a0001c0021t0020g0004 a0003c0020t0071g0108	25	134	0.1866	-12	c.192 others(29): Show c.1926-753_1926-742delAAAAAAAAAAAA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	15/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9123258	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0102 a0001c0003t0002g0102	1	134	0.0075	-12	c.160 others(29): Show c.1600-433_1600-422delTTTTTTTTTTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9131647	AAAAAAAA others(5): Show AAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19240.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0008 a0001c0015t0008 a0001c0001t0008 a0001c0015t0008	a0001c0001t0008g0111 a0001c0015t0008g0112 a0001c0001t0008g0111 a0001c0015t0008g0112	2	134	0.0149	-12	c.159 others(31): Show c.1599+4845_1599+4856delGTTTTTTTTTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9162504	ATAGGAAT others(5): Show ATAGGAATATATG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02647.hp1 NA18906.hp2 HG02257.hp2 HG02647.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0032 a0001c0001t0056 a0001c0001t0019 a0001c0001t0032 a0001c0001t0056	a0001c0001t0019g0118 a0001c0001t0032g0067 a0001c0001t0056g0096 a0001c0001t0019g0118 a0001c0001t0032g0067 a0001c0001t0056g0096	3	134	0.0224	-12	c.127 others(31): Show c.1274-7821_1274-7810delCATATATTCCTA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	11/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9197728	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01515.hp2 HG03225.hp1 others(1): Show HG00639.hp1 HG01515.hp2 HG03225.hp1 HG03831.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0005c0012	a0001c0001t0039 a0001c0004t0062 a0001c0006t0043 others(1): Show a0001c0001t0039 a0001c0004t0062 a0001c0006t0043 a0005c0012t0029	a0001c0001t0039g0072 a0001c0004t0062g0114 a0001c0006t0043g0007 others(1): Show a0001c0001t0039g0072 a0001c0004t0062g0114 a0001c0006t0043g0007 a0005c0012t0029g0055	4	134	0.0299	-12	c.933 others(27): Show c.933-437_933-426delCACACACACACA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	9/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9197776	GTGTGTGT others(5): Show GTGTGTGTGTTTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01884.hp2 HG02602.hp2 others(10): Show HG00280.hp1 HG01884.hp2 HG02602.hp2 HG02818.hp2 HG02965.hp2 HG03453.hp2 HG03540.hp1 HG03669.hp1 HG03831.hp2 NA18961.hp1 NA18966.hp2 NA18970.hp2 NA18989.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0001c0005 a0001c0009 others(1): Show a0001c0003 a0001c0005 a0001c0009 a0004c0019	a0001c0003t0006 a0001c0003t0010 a0001c0003t0012 others(8): Show a0001c0003t0006 a0001c0003t0010 a0001c0003t0012 a0001c0005t0001 a0001c0005t0002 a0001c0005t0007 a0001c0005t0048 a0001c0005t0052 a0001c0005t0065 a0001c0009t0001 a0004c0019t0059	a0001c0003t0006g0047 a0001c0003t0010g0048 a0001c0003t0012g0068 others(10): Show a0001c0003t0006g0047 a0001c0003t0010g0048 a0001c0003t0012g0068 a0001c0005t0001g0005 a0001c0005t0001g0054 a0001c0005t0002g0115 a0001c0005t0007g0082 a0001c0005t0007g0086 a0001c0005t0048g0022 a0001c0005t0052g0097 a0001c0005t0065g0123 a0001c0009t0001g0045 a0004c0019t0059g0089	13	134	0.0970	-12	c.933 others(27): Show c.933-485_933-474delAAAACACACACA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	9/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9207888	GATAGATA others(5): Show GATAGATAGATAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02451.hp2 HG02818.hp1 others(8): Show HG00140.hp1 HG02451.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG06807.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009	a0001c0001t0008 a0001c0001t0013 a0001c0001t0061 others(7): Show a0001c0001t0008 a0001c0001t0013 a0001c0001t0061 a0001c0002t0001 a0001c0003t0079 a0001c0004t0001 a0001c0004t0002 a0001c0007t0003 a0001c0007t0031 a0001c0009t0002	a0001c0001t0008g0111 a0001c0001t0013g0056 a0001c0001t0061g0116 others(8): Show a0001c0001t0008g0111 a0001c0001t0013g0056 a0001c0001t0061g0116 a0001c0002t0001g0071 a0001c0003t0079g0126 a0001c0004t0001g0030 a0001c0004t0002g0120 a0001c0004t0002g0121 a0001c0007t0003g0063 a0001c0007t0031g0012 a0001c0009t0002g0113	11	134	0.0821	-12	c.647 others(29): Show c.647-5660_647-5649delGTATCTATCTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	8/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9230158	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03130.hp2 HG03195.hp2 others(1): Show HG02451.hp2 HG03130.hp2 HG03195.hp2 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0015 a0001c0021 others(1): Show a0001c0001 a0001c0015 a0001c0021 a0003c0020	a0001c0001t0061 a0001c0015t0008 a0001c0021t0020 others(1): Show a0001c0001t0061 a0001c0015t0008 a0001c0021t0020 a0003c0020t0071	a0001c0001t0061g0116 a0001c0015t0008g0112 a0001c0021t0020g0004 others(1): Show a0001c0001t0061g0116 a0001c0015t0008g0112 a0001c0021t0020g0004 a0003c0020t0071g0108	4	134	0.0299	-12	c.334 others(29): Show c.334-3203_334-3192delAAAAAAAAAAAA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	6/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9381973	TGTGTGTG others(5): Show TGTGTGTGTGCGC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01257.hp1 HG02451.hp2 HG00642.hp2 HG01257.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0024 a0001c0001t0061 a0001c0002t0022 a0001c0001t0024 a0001c0001t0061 a0001c0002t0022	a0001c0001t0024g0025 a0001c0001t0061g0116 a0001c0002t0022g0073 a0001c0001t0024g0025 a0001c0001t0061g0116 a0001c0002t0022g0073	3	134	0.0224	-12	c.-77 others(29): Show c.-77-1962_-77-1951delGCGCACACACAC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9381977	TGTGTGCG others(5): Show TGTGTGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02040.hp1 HG03225.hp1 others(5): Show HG00741.hp1 HG02040.hp1 HG03225.hp1 HG06807.hp1 NA18960.hp2 NA18964.hp2 NA18966.hp1 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0023	a0001c0002t0047 a0001c0003t0002 a0001c0004t0005 others(5): Show a0001c0002t0047 a0001c0003t0002 a0001c0004t0005 a0001c0004t0010 a0001c0004t0069 a0001c0005t0001 a0001c0006t0043 a0001c0023t0018	a0001c0002t0047g0053 a0001c0003t0002g0102 a0001c0004t0005g0050 others(5): Show a0001c0002t0047g0053 a0001c0003t0002g0102 a0001c0004t0005g0050 a0001c0004t0010g0049 a0001c0004t0069g0103 a0001c0005t0001g0054 a0001c0006t0043g0007 a0001c0023t0018g0110	8	134	0.0597	-12	c.-77 others(29): Show c.-77-1966_-77-1955delGCGCGCGCACAC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9384559	GATAGATA others(5): Show GATAGATAGATAC	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG06807.hp1 HG01257.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0024 a0001c0023t0018 a0001c0001t0024 a0001c0023t0018	a0001c0001t0024g0025 a0001c0023t0018g0110 a0001c0001t0024g0025 a0001c0023t0018g0110	2	134	0.0149	-12	c.-77 others(29): Show c.-77-4548_-77-4537delGTATCTATCTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9384571	CATAGATA others(5): Show CATAGATAGATAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02451.hp1 NA18960.hp2 HG00280.hp2 HG02451.hp1 NA18960.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0007 a0001c0002 a0001c0004 a0001c0007	a0001c0002t0009 a0001c0004t0069 a0001c0007t0016 a0001c0002t0009 a0001c0004t0069 a0001c0007t0016	a0001c0002t0009g0003 a0001c0004t0069g0103 a0001c0007t0016g0095 a0001c0002t0009g0003 a0001c0004t0069g0103 a0001c0007t0016g0095	3	134	0.0224	-12	c.-77 others(29): Show c.-77-4560_-77-4549delCTATCTATCTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9384607	GATAGATA others(5): Show GATAGATAGATAC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG02602.hp2 others(1): Show HG01884.hp2 HG02486.hp1 HG02602.hp2 NA19030.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0004c0019	a0001c0001t0053 a0001c0003t0080 a0001c0005t0007 others(1): Show a0001c0001t0053 a0001c0003t0080 a0001c0005t0007 a0004c0019t0059	a0001c0001t0053g0080 a0001c0003t0080g0132 a0001c0005t0007g0082 others(1): Show a0001c0001t0053g0080 a0001c0003t0080g0132 a0001c0005t0007g0082 a0004c0019t0059g0089	4	134	0.0299	-12	c.-77 others(29): Show c.-77-4596_-77-4585delGTATCTATCTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9384619	CATAGATA others(5): Show CATAGATAGATAG	C C	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	1	134	0.0075	-12	c.-77 others(29): Show c.-77-4608_-77-4597delCTATCTATCTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9384709	TAGATAGA others(5): Show TAGATAGACAGAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA18906.hp2 HG00140.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0056 a0001c0002t0001 a0001c0001t0056 a0001c0002t0001	a0001c0001t0056g0096 a0001c0002t0001g0071 a0001c0001t0056g0096 a0001c0002t0001g0071	2	134	0.0149	-12	c.-77 others(29): Show c.-77-4698_-77-4687delGTCTGTCTATCT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9384713	TAGACAGA others(5): Show TAGACAGACAGAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18906.hp1 HG02280.hp2 NA18906.hp1	a0001 a0001	a0001c0013 a0001c0015 a0001c0013 a0001c0015	a0001c0013t0036 a0001c0015t0008 a0001c0013t0036 a0001c0015t0008	a0001c0013t0036g0008 a0001c0015t0008g0112 a0001c0013t0036g0008 a0001c0015t0008g0112	2	134	0.0149	-12	c.-77 others(29): Show c.-77-4702_-77-4691delGTCTGTCTGTCT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9428122	CTCTATCT others(5): Show CTCTATCTATCTA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0113 a0001c0009t0002g0113	1	134	0.0075	-12	c.-78 others(29): Show c.-78+9622_-78+9633delTAGATAGATAGA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9428157	TATCTATC others(5): Show TATCTATCTATCC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02257.hp2 HG02486.hp1 others(6): Show HG00642.hp1 HG02257.hp2 HG02486.hp1 HG02896.hp1 HG02897.hp2 HG03195.hp1 HG03209.hp1 HG03516.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0013 a0001c0001t0032 others(5): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0032 a0001c0001t0068 a0001c0002t0060 a0001c0003t0019 a0001c0003t0080 a0001c0004t0002	a0001c0001t0001g0038 a0001c0001t0013g0056 a0001c0001t0032g0067 others(6): Show a0001c0001t0001g0038 a0001c0001t0013g0056 a0001c0001t0032g0067 a0001c0001t0068g0129 a0001c0002t0060g0085 a0001c0003t0019g0104 a0001c0003t0080g0132 a0001c0004t0002g0120 a0001c0004t0002g0121	9	134	0.0672	-12	c.-78 others(29): Show c.-78+9587_-78+9598delGGATAGATAGAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9460338	TACGTAGA others(5): Show TACGTAGAACAAA	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0092 a0001c0001t0015g0093 a0001c0001t0015g0092 a0001c0001t0015g0093	2	134	0.0149	-12	c.-17 others(33): Show c.-174-22498_-174-22487delTTTGTTCTACGT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	1/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9512126	TAGAAAAG others(5): Show TAGAAAAGAGAGG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00639.hp1 others(68): Show HG00140.hp1 HG00140.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01884.hp1 HG01884.hp2 HG01981.hp1 HG02040.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03831.hp2 HG04115.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18944.hp2 NA19030.hp1 NA19043.hp2 NA19068.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0018 a0001c0021 a0001c0022 a0002c0014 a0003c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(58): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0024 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0039 a0001c0001t0046 a0001c0001t0054 a0001c0001t0056 a0001c0001t0064 a0001c0001t0067 a0001c0001t0068 a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0002t0022 a0001c0003t0003 a0001c0003t0006 a0001c0003t0019 a0001c0003t0051 a0001c0003t0072 a0001c0003t0079 a0001c0003t0080 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0049 a0001c0005t0001 a0001c0005t0007 a0001c0005t0042 a0001c0005t0065 a0001c0006t0001 a0001c0006t0014 a0001c0006t0021 a0001c0006t0043 a0001c0006t0044 a0001c0007t0016 a0001c0007t0025 a0001c0007t0034 a0001c0008t0001 a0001c0008t0027 a0001c0009t0002 a0001c0010t0076 a0001c0011t0037 a0001c0011t0073 a0001c0013t0036 a0001c0018t0002 a0001c0021t0020 a0001c0022t0055 a0002c0014t0057 a0003c0020t0071	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 others(68): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0076 a0001c0001t0002g0131 a0001c0001t0003g0029 a0001c0001t0006g0061 a0001c0001t0008g0111 a0001c0001t0011g0028 a0001c0001t0011g0075 a0001c0001t0013g0036 a0001c0001t0013g0056 a0001c0001t0014g0077 a0001c0001t0016g0090 a0001c0001t0019g0118 a0001c0001t0024g0025 a0001c0001t0028g0006 a0001c0001t0030g0032 a0001c0001t0032g0067 a0001c0001t0033g0057 a0001c0001t0039g0072 a0001c0001t0046g0023 a0001c0001t0054g0094 a0001c0001t0056g0096 a0001c0001t0064g0127 a0001c0001t0067g0128 a0001c0001t0068g0129 a0001c0002t0001g0071 a0001c0002t0004g0026 a0001c0002t0004g0034 a0001c0002t0009g0002 a0001c0002t0022g0073 a0001c0003t0003g0031 a0001c0003t0006g0047 a0001c0003t0019g0104 a0001c0003t0051g0079 a0001c0003t0072g0124 a0001c0003t0079g0126 a0001c0003t0080g0132 a0001c0004t0001g0020 a0001c0004t0001g0030 a0001c0004t0002g0120 a0001c0004t0002g0121 a0001c0004t0010g0049 a0001c0004t0049g0011 a0001c0005t0001g0005 a0001c0005t0007g0082 a0001c0005t0042g0070 a0001c0005t0065g0123 a0001c0006t0001g0024 a0001c0006t0001g0078 a0001c0006t0014g0060 a0001c0006t0021g0001 a0001c0006t0043g0007 a0001c0006t0044g0009 a0001c0007t0016g0095 a0001c0007t0025g0062 a0001c0007t0034g0033 a0001c0008t0001g0046 a0001c0008t0027g0035 a0001c0009t0002g0113 a0001c0010t0076g0125 a0001c0011t0037g0065 a0001c0011t0073g0119 a0001c0013t0036g0008 a0001c0018t0002g0130 a0001c0021t0020g0004 a0001c0022t0055g0081 a0002c0014t0057g0087 a0003c0020t0071g0108	71	134	0.5299	-12	c.-17 others(33): Show c.-175+33446_-175+33457delCCTCTCTTTTCT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	1/22			chr5	TogoVar
SEMA5B_chr3_122904082_123032763	122908291	AAAATAAA others(5): Show AAAATAAATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	290	0.0035	-12	c.18 others(23): Show c.1840_*1851delATTTATTTATTT	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding		790		chr3	TogoVar
SEMA5B_chr3_122904082_123032763	122983716	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0148 a0002c0002t0001g0148	1	290	0.0035	-12	c.-38 others(31): Show c.-38-22427_-38-22416delTTTTTTTTTTTT	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	1/22			chr3	TogoVar
SEMA5B_chr3_122904082_123032763	122998757	GTGAAAAG others(5): Show GTGAAAAGATACT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0031 a0002c0002t0002g0031	1	290	0.0035	-12	c.-39 others(31): Show c.-39+28695_-39+28706delAGTATCTTTTCA	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	1/22			chr3	TogoVar
SEMA5B_chr3_122904082_123032763	123030622	ATCTCTCT others(5): Show ATCTCTCTCTCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01069.hp2 HG01168.hp1 others(18): Show HG00280.hp1 HG01069.hp2 HG01168.hp1 HG01243.hp1 HG01515.hp1 HG01517.hp1 HG02258.hp1 HG02738.hp1 HG02895.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03834.hp2 NA18906.hp1 NA18954.hp1 NA18979.hp1 NA18999.hp2 NA19084.hp1 NA20300.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0010	a0001c0001 a0001c0004 a0002c0002 others(4): Show a0001c0001 a0001c0004 a0002c0002 a0002c0033 a0004c0006 a0008c0010 a0010c0018	a0001c0001t0001 a0001c0001t0002 a0001c0004t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0006 a0002c0002t0001 a0002c0002t0002 a0002c0033t0001 a0004c0006t0001 a0008c0010t0002 a0010c0018t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0130 others(18): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0130 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0002g0059 a0001c0001t0002g0162 a0001c0004t0006g0141 a0002c0002t0001g0151 a0002c0002t0001g0154 a0002c0002t0002g0111 a0002c0002t0002g0163 a0002c0033t0001g0164 a0004c0006t0001g0155 a0008c0010t0002g0172 a0010c0018t0001g0142	21	290	0.0724	-12	c.-32 others(23): Show c.-3209_-3198delGAGAGAGAGAGA	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding		2860		chr3	TogoVar
SEMA6A_chr5_116438555_116579823	116444660	CAAAATAA others(5): Show CAAAATAAAAAAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG02615.hp2 HG02622.hp2 others(3): Show HG01884.hp2 HG02615.hp2 HG02622.hp2 HG02895.hp2 HG03209.hp1 HG03225.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0004c0006 a0001c0004 a0004c0006	a0001c0004t0027 a0001c0004t0035 a0004c0006t0042 others(1): Show a0001c0004t0027 a0001c0004t0035 a0004c0006t0042 a0004c0006t0081	a0001c0004t0027g0132 a0001c0004t0027g0151 a0001c0004t0035g0274 others(3): Show a0001c0004t0027g0132 a0001c0004t0027g0151 a0001c0004t0035g0274 a0001c0004t0035g0292 a0004c0006t0042g0156 a0004c0006t0081g0283	6	304	0.0197	-12	c.19 others(23): Show c.1941_*1952delATTTTTTATTTT	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	19/19	1941		chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116454823	CGCGTGTG others(5): Show CGCGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0146 a0001c0001t0045g0146	1	304	0.0033	-12	c.189 others(31): Show c.1895-7024_1895-7013delACACACACACGC	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	18/18			chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116467882	AGTGGTGG others(5): Show AGTGGTGGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01516.hp1 HG01517.hp2 others(2): Show HG01175.hp1 HG01516.hp1 HG01517.hp2 HG03471.hp1 HG04199.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0015 a0001c0001 a0005c0015	a0001c0001t0006 a0001c0001t0030 a0001c0001t0080 others(1): Show a0001c0001t0006 a0001c0001t0030 a0001c0001t0080 a0005c0015t0087	a0001c0001t0006g0051 a0001c0001t0006g0052 a0001c0001t0030g0246 others(2): Show a0001c0001t0006g0051 a0001c0001t0006g0052 a0001c0001t0030g0246 a0001c0001t0080g0291 a0005c0015t0087g0302	5	304	0.0165	-12	c.173 others(29): Show c.1730-147_1730-136delCACCACCACCAC	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	17/18			chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116536835	AAGCTTTT others(5): Show AAGCTTTTTATTC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG02970.hp2 others(3): Show HG01884.hp2 HG02572.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0008 a0001c0001t0022 a0001c0001t0063 others(1): Show a0001c0001t0008 a0001c0001t0022 a0001c0001t0063 a0004c0006t0081	a0001c0001t0008g0276 a0001c0001t0008g0288 a0001c0001t0022g0275 others(3): Show a0001c0001t0008g0276 a0001c0001t0008g0288 a0001c0001t0022g0275 a0001c0001t0022g0287 a0001c0001t0063g0147 a0004c0006t0081g0283	6	304	0.0197	-12	c.-38 others(31): Show c.-38-31865_-38-31854delGAATAAAAAGCT	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	1/18			chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116536866	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG02970.hp1 others(5): Show HG02572.hp2 HG02896.hp1 HG02970.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp2 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0017 a0001c0001 a0001c0004 a0001c0017	a0001c0001t0001 a0001c0001t0014 a0001c0001t0022 others(5): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0022 a0001c0001t0023 a0001c0001t0062 a0001c0001t0078 a0001c0004t0027 a0001c0017t0077	a0001c0001t0001g0128 a0001c0001t0014g0136 a0001c0001t0022g0297 others(5): Show a0001c0001t0001g0128 a0001c0001t0014g0136 a0001c0001t0022g0297 a0001c0001t0023g0282 a0001c0001t0062g0018 a0001c0001t0078g0280 a0001c0004t0027g0132 a0001c0017t0077g0277	8	304	0.0263	-12	c.-38 others(31): Show c.-38-31896_-38-31885delTTTTTTTTTTTT	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	1/18			chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116538783	ACCATCAC others(5): Show ACCATCACCTTGT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0279 a0001c0001t0031g0279	1	304	0.0033	-12	c.-38 others(31): Show c.-38-33813_-38-33802delACAAGGTGATGG	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	1/18			chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116568821	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG06807.hp2 HG02976.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0022 a0001c0001t0008 a0001c0001t0022	a0001c0001t0008g0276 a0001c0001t0022g0275 a0001c0001t0008g0276 a0001c0001t0022g0275	2	304	0.0066	-12	c.-39 others(29): Show c.-39+5352_-39+5363delGTGTGTGTGTGT	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	1/18			chr5	TogoVar
SEMA6B_chr19_4537593_4564684	4553720	ATGGATGG others(5): Show ATGGATGGATGGG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0338 a0001c0001t0002g0338	1	440	0.0023	-12	c.771 others(27): Show c.771+656_771+667delCCCATCCATCCA	SEMA6B	ENSG00000167680.17	transcript	ENST00000586582.6	protein_coding	9/16			chr19	TogoVar
SEMA6D_chr15_47712505_47779228	47717832	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18941.hp2 NA18978.hp2 others(4): Show HG02486.hp1 NA18941.hp2 NA18978.hp2 NA18988.hp1 NA18999.hp1 NA19065.hp1 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 a0001c0001 a0001c0006 a0002c0003	a0001c0001t0036 a0001c0001t0066 a0001c0001t0067 others(4): Show a0001c0001t0036 a0001c0001t0066 a0001c0001t0067 a0001c0006t0009 a0002c0003t0014 a0002c0003t0016 a0002c0003t0049	a0001c0001t0036g0020 a0001c0001t0066g0108 a0001c0001t0067g0020 others(4): Show a0001c0001t0036g0020 a0001c0001t0066g0108 a0001c0001t0067g0020 a0001c0006t0009g0110 a0002c0003t0014g0109 a0002c0003t0016g0111 a0002c0003t0049g0112	7	388	0.0180	-12	c.-55 others(27): Show c.-55+176_-55+187delGTGTGTGTGTGT	SEMA6D	ENSG00000137872.17	transcript	ENST00000536845.7	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SEMA7A_chr15_74404289_74438958	74416318	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0012 a0002c0015t0012	a0002c0015t0012g0121 a0002c0015t0012g0121	1	404	0.0025	-12	c.801 others(27): Show c.801+245_801+256delGTGTGTGTGTGT	SEMA7A	ENSG00000138623.10	transcript	ENST00000261918.9	protein_coding	7/13			chr15	TogoVar
SEMG1_chr20_45202033_45214768	45203533	GTGTGTGT others(5): Show GTGTGTGTATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0005 a0005c0007t0001g0005	1	408	0.0025	-12	c.-35 others(23): Show c.-3520_-3509delTGTGTGTATATA	SEMG1	ENSG00000124233.12	transcript	ENST00000372781.4	protein_coding		3499		chr20	TogoVar
SEMG1_chr20_45202033_45214768	45203535	GTGTGTAT others(5): Show GTGTGTATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG03239.hp2 NA19003.hp2 HG01168.hp1 HG03239.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	408	0.0074	-12	c.-35 others(23): Show c.-3518_-3507delTGTGTATATATA	SEMG1	ENSG00000124233.12	transcript	ENST00000372781.4	protein_coding		3497		chr20	TogoVar
SEMG1_chr20_45202033_45214768	45203539	GTATATAT others(5): Show GTATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00673.hp1 HG00741.hp2 others(49): Show HG00597.hp1 HG00673.hp1 HG00741.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp2 HG02145.hp2 HG02148.hp2 HG02273.hp1 HG02523.hp1 HG02559.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03486.hp2 HG03704.hp1 HG04204.hp2 NA18906.hp2 NA18942.hp2 NA18985.hp1 NA18993.hp1 NA18998.hp1 NA19001.hp2 NA19004.hp2 NA19007.hp1 NA19011.hp2 NA19030.hp1 NA19057.hp2 NA19060.hp1 NA19065.hp2 NA19068.hp2 NA19074.hp1 NA19075.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0002c0005 a0002c0012	a0001c0001t0001 a0002c0002t0002 a0002c0002t0005 others(3): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0005 a0002c0003t0001 a0002c0005t0001 a0002c0012t0001	a0001c0001t0001g0001 a0002c0002t0002g0003 a0002c0002t0002g0006 others(5): Show a0001c0001t0001g0001 a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0005g0003 a0002c0003t0001g0002 a0002c0003t0001g0009 a0002c0005t0001g0002 a0002c0012t0001g0002	52	408	0.1275	-12	c.-35 others(23): Show c.-3514_-3503delTATATATATATA	SEMG1	ENSG00000124233.12	transcript	ENST00000372781.4	protein_coding		3493		chr20	TogoVar
SEMG2_chr20_45216373_45229458	45225520	AAAAGAAA others(5): Show AAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	362	0.0028	-12	c.12 others(23): Show c.1275_*1286delAAAGAAAGAAAG	SEMG2	ENSG00000124157.7	transcript	ENST00000372769.4	protein_coding		1063		chr20	TogoVar
SENP1_chr12_48037897_48111079	48085715	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03654.hp1 HG00741.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0284 a0001c0001t0005g0285	2	394	0.0051	-12	c.381 others(29): Show c.381-1965_381-1954delTTTTTTTTTTTT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	5/17			chr12	TogoVar
SENP2_chr3_185581295_185638551	185584452	CATATATA others(5): Show CATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG02976.hp1 HG01981.hp1 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0126 a0002c0002t0007 a0001c0001t0126 a0002c0002t0007	a0001c0001t0126g0126 a0002c0002t0007g0340 a0001c0001t0126g0126 a0002c0002t0007g0340	2	360	0.0056	-12	c.-19 others(23): Show c.-1961_-1950delATATATATATAT	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding		1842		chr3	TogoVar
SENP2_chr3_185581295_185638551	185632225	TTTTTTTT others(5): Show TTTTTTTTTTTTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG01257.hp2 HG02257.hp1 others(2): Show HG00735.hp1 HG01257.hp2 HG02257.hp1 HG02809.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0062 a0001c0001t0175 others(2): Show a0001c0001t0051 a0001c0001t0062 a0001c0001t0175 a0001c0001t0179 a0001c0001t0183	a0001c0001t0051g0035 a0001c0001t0062g0148 a0001c0001t0175g0136 others(2): Show a0001c0001t0051g0035 a0001c0001t0062g0148 a0001c0001t0175g0136 a0001c0001t0179g0084 a0001c0001t0183g0029	5	360	0.0139	-12	c.23 others(23): Show c.2393_*2404delGTTTTTTTTTTT	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	17/17	2393	INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP3_chr17_7556919_7576969	7571834	CTTTTATA others(5): Show CTTTTATATATAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0032 a0001c0001t0110g0032	1	446	0.0022	-12	c.35 others(21): Show c.352_*363delTTTTATATATAT	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	352		chr17	TogoVar
SENP3_chr17_7556919_7576969	7571837	TTATATAT others(5): Show TTATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp2 HG02055.hp2 HG03041.hp2 others(2): Show HG00735.hp2 HG02055.hp2 HG03041.hp2 NA19064.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0002 a0001c0001t0020g0008 a0001c0001t0020g0002 a0001c0001t0020g0008	5	446	0.0112	-12	c.41 others(21): Show c.415_*426delTATATATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	415	INFO_REALIGN_3_PRIME	chr17	TogoVar

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