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
SEC22B_chr1_120145898_120181520	120163581	T T	TTGTTTTT others(13): Show TTGTTTTTGTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp2 HG00741.hp1 others(104): Show HG00408.hp1 HG00673.hp2 HG00741.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18963.hp1 NA18965.hp2 NA18968.hp2 NA18970.hp2 NA18972.hp2 NA18978.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18987.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18999.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp2 NA19043.hp1 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 others(26): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0012 a0001c0002t0020 a0001c0002t0021 a0001c0002t0022 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0028 a0001c0002t0033 a0001c0002t0034 a0001c0002t0042 a0001c0002t0043 a0001c0002t0044 a0001c0002t0048 a0001c0002t0049 a0001c0002t0050 a0001c0002t0051 a0001c0002t0052 a0001c0002t0053 a0001c0002t0054 a0001c0002t0055 a0001c0002t0056 a0001c0002t0067 a0001c0002t0071 a0001c0002t0072	a0001c0002t0003g0024 a0001c0002t0003g0034 a0001c0002t0003g0035 others(62): Show a0001c0002t0003g0024 a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0075 a0001c0002t0003g0095 a0001c0002t0003g0096 a0001c0002t0003g0100 a0001c0002t0003g0109 a0001c0002t0003g0111 a0001c0002t0003g0112 a0001c0002t0003g0113 a0001c0002t0003g0116 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0004g0005 a0001c0002t0004g0017 a0001c0002t0004g0032 a0001c0002t0004g0078 a0001c0002t0004g0085 a0001c0002t0004g0087 a0001c0002t0005g0007 a0001c0002t0005g0013 a0001c0002t0005g0101 a0001c0002t0005g0102 a0001c0002t0005g0127 a0001c0002t0008g0003 a0001c0002t0008g0118 a0001c0002t0012g0011 a0001c0002t0020g0076 a0001c0002t0020g0104 a0001c0002t0020g0106 a0001c0002t0021g0079 a0001c0002t0021g0086 a0001c0002t0021g0091 a0001c0002t0022g0033 a0001c0002t0022g0128 a0001c0002t0024g0077 a0001c0002t0024g0082 a0001c0002t0024g0089 a0001c0002t0025g0053 a0001c0002t0025g0083 a0001c0002t0025g0114 a0001c0002t0026g0048 a0001c0002t0026g0049 a0001c0002t0028g0038 a0001c0002t0033g0084 a0001c0002t0034g0094 a0001c0002t0034g0099 a0001c0002t0042g0105 a0001c0002t0043g0080 a0001c0002t0044g0107 a0001c0002t0048g0108 a0001c0002t0049g0126 a0001c0002t0050g0081 a0001c0002t0051g0119 a0001c0002t0052g0103 a0001c0002t0053g0088 a0001c0002t0054g0117 a0001c0002t0055g0098 a0001c0002t0056g0120 a0001c0002t0067g0097 a0001c0002t0071g0093 a0001c0002t0072g0110	107	380	0.2816	20	c.186 others(35): Show c.186-212_186-211insGAAAAAAAAAAACAAAAACA	SEC22B	ENSG00000265808.4	transcript	ENST00000578049.4	protein_coding	2/4			chr1	TogoVar
SEC24A_chr5_134643785_134732909	134658390	G G	GTGACTAT others(13): Show GTGACTATCATGCTCACTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	318	0.0031	20	c.98- others(35): Show c.98-2727_98-2708dupGACTATCATGCTCACTTTTT	SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
SEC24A_chr5_134643785_134732909	134688667	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18946.hp1 HG02615.hp2 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0017 a0001c0001t0008 a0001c0001t0017	a0001c0001t0008g0307 a0001c0001t0017g0024 a0001c0001t0008g0307 a0001c0001t0017g0024	2	318	0.0063	20	c.172 others(37): Show c.1723+379_1723+398dupTATTTATTTATTTATTTATT	SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
SEC24A_chr5_134643785_134732909	134705070	T T	TTTTATAT others(13): Show TTTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0051 a0001c0007t0006g0051	1	318	0.0031	20	c.244 others(37): Show c.2441-256_2441-255insTTATATATATATATATATAT	SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
SEC24B_chr4_109428815_109545896	109472889	T T	TTATTATA others(13): Show TTATTATATAATTATATTATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0020 a0001c0001t0006g0020	1	222	0.0045	20	c.878 others(34): Show c.878-105_878-86dupATTATATTATATATTATATA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109482979	T T	TATATATA others(13): Show TATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02809.hp2 HG02896.hp1 HG02897.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0182 others(1): Show a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0191	4	222	0.0180	20	c.116 others(39): Show c.1165+1199_1165+1200insTATATATATATACACACACA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24D_chr4_118717823_118841126	118746231	G G	GGGAGGGA others(13): Show GGGAGGGAGGGAGGGAGGGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00544.hp1 others(94): Show HG00099.hp1 HG00280.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01516.hp2 HG01884.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02572.hp1 HG02698.hp2 HG02717.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18946.hp1 NA18948.hp1 NA18951.hp2 NA18953.hp2 NA18957.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19055.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp1 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19088.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0007 a0011 a0014 a0016	a0001c0001 a0001c0002 a0001c0009 others(8): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0002c0006 a0003c0008 a0006c0013 a0007c0023 a0011c0024 a0014c0015 a0016c0022	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(10): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0009t0001 a0001c0010t0001 a0002c0006t0001 a0003c0008t0001 a0006c0013t0001 a0007c0023t0001 a0011c0024t0001 a0014c0015t0001 a0016c0022t0001	a0001c0001t0001g0014 a0001c0001t0001g0035 a0001c0001t0001g0225 others(94): Show a0001c0001t0001g0014 a0001c0001t0001g0035 a0001c0001t0001g0225 a0001c0002t0001g0050 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0070 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0078 a0001c0002t0001g0082 a0001c0002t0001g0087 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0278 a0001c0002t0001g0295 a0001c0002t0003g0121 a0001c0002t0003g0153 a0001c0002t0005g0120 a0001c0009t0001g0293 a0001c0010t0001g0005 a0001c0010t0001g0006 a0002c0006t0001g0051 a0002c0006t0001g0052 a0002c0006t0001g0055 a0002c0006t0001g0056 a0003c0008t0001g0010 a0003c0008t0001g0011 a0003c0008t0001g0012 a0006c0013t0001g0053 a0007c0023t0001g0009 a0011c0024t0001g0008 a0014c0015t0001g0119 a0016c0022t0001g0292	97	300	0.3233	20	c.170 others(39): Show c.1708-1191_1708-1172dupTTCCCTCCCTCCCTCCCTCC	SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	13/22			chr4	TogoVar
SEC24D_chr4_118717823_118841126	118746231	G G	GGGAGGGA others(13): Show GGGAGGGAGGGAGGGAGGGAC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	300	0.0033	20	c.170 others(39): Show c.1708-1172_1708-1171insGTCCCTCCCTCCCTCCCTCC	SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	13/22			chr4	TogoVar
SEC24D_chr4_118717823_118841126	118804885	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02486.hp1 HG01978.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0043 a0001c0001t0001g0028 a0001c0001t0001g0043	2	300	0.0067	20	c.913 others(35): Show c.913+938_913+957dupGTGTGTGTGTGTGTGTGTGT	SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	7/22			chr4	TogoVar
SEC24D_chr4_118717823_118841126	118810074	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	300	0.0033	20	c.802 others(37): Show c.802-4140_802-4121dupCACACACACACACACACACA	SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	6/22			chr4	TogoVar
SEC24D_chr4_118717823_118841126	118810137	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	300	0.0033	20	c.802 others(37): Show c.802-4184_802-4183insCCACACACACACACACACAC	SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	6/22			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82841442	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01981.hp1 others(5): Show HG00735.hp1 HG00741.hp2 HG01981.hp1 HG02976.hp2 HG03486.hp1 HG03669.hp1 HG03688.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 a0001c0001t0001 a0001c0002t0001 a0001c0007t0001	a0001c0001t0001g0123 a0001c0002t0001g0229 a0001c0002t0001g0236 others(5): Show a0001c0001t0001g0123 a0001c0002t0001g0229 a0001c0002t0001g0236 a0001c0002t0001g0258 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0302 a0001c0007t0001g0277	8	328	0.0244	20	c.296 others(37): Show c.2968+678_2968+697dupTATATATATATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC61A2_chr10_12124677_12170407	12127557	G G	GCCCCCCC others(13): Show GCCCCCCCACCCCCCCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0131 a0001c0003t0001g0131	1	360	0.0028	20	c.-22 others(31): Show c.-2231_-2230insCCCCCCCACCCCCCCCCCAC	SEC61A2	ENSG00000065665.21	transcript	ENST00000298428.14	protein_coding		2119		chr10	TogoVar
SEC61G_chr7_54747253_54764211	54760999	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02486.hp1 others(3): Show HG02055.hp1 HG02258.hp2 HG02486.hp1 HG02723.hp2 HG03209.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0004 a0001c0001t0001g0007	6	406	0.0148	20	c.-18 others(31): Show c.-1849_-1848insTTTTTTTTTTTTTTTTTTTT	SEC61G	ENSG00000132432.14	transcript	ENST00000352861.9	protein_coding		1789		chr7	TogoVar
SEC63_chr6_107862756_107963208	107863559	T T	TGCACGCG others(13): Show TGCACGCGCGCGCGCGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	332	0.0030	20	c.81 others(31): Show c.8144_*8145insGCGCGCGCGCGCGCGCGTGC	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding		4196		chr6	TogoVar
SEC63_chr6_107862756_107963208	107863559	T T	TGCGCGCG others(13): Show TGCGCGCGCGCGCGCGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01257.hp1 HG01258.hp1 others(6): Show HG00642.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG02055.hp1 HG02083.hp1 HG03688.hp2 NA18952.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0045 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0045 a0002c0004t0003	a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0124 others(6): Show a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0124 a0001c0001t0001g0151 a0001c0001t0003g0072 a0001c0001t0003g0227 a0001c0001t0003g0301 a0001c0001t0045g0140 a0002c0004t0003g0159	9	332	0.0271	20	c.81 others(31): Show c.8144_*8145insGCGCGCGCGCGCGCGCGCGC	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding		4196		chr6	TogoVar
SECISBP2L_chr15_48983638_49051446	48993100	A A	AGAGAGTG others(13): Show AGAGAGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02486.hp1 NA19058.hp2 HG02040.hp1 HG02486.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0035 a0001c0001t0003g0072 a0001c0001t0008g0028 a0001c0001t0003g0035 a0001c0001t0003g0072 a0001c0001t0008g0028	3	378	0.0079	20	c.262 others(37): Show c.2624-175_2624-174insACACACACACACACACTCTC	SECISBP2L	ENSG00000138593.9	transcript	ENST00000559471.6	protein_coding	17/17			chr15	TogoVar
SECISBP2L_chr15_48983638_49051446	49010124	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG00741.hp1 others(25): Show HG00099.hp2 HG00735.hp1 HG00741.hp1 HG01099.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01943.hp1 HG02071.hp1 HG02486.hp2 HG02683.hp2 HG02723.hp2 HG03239.hp1 HG03516.hp1 HG03688.hp1 HG03927.hp2 NA18940.hp1 NA18963.hp1 NA18988.hp1 NA19057.hp2 NA19085.hp1 NA19089.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0003 a0001c0003t0002 a0001c0003t0007 others(6): Show a0001c0001t0003 a0001c0003t0002 a0001c0003t0007 a0002c0002t0002 a0002c0002t0004 a0002c0002t0009 a0002c0002t0016 a0002c0002t0025 a0002c0002t0027	a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0003t0002g0106 others(24): Show a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0003t0002g0106 a0001c0003t0002g0216 a0001c0003t0002g0217 a0001c0003t0007g0193 a0002c0002t0002g0008 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0109 a0002c0002t0002g0114 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0149 a0002c0002t0002g0159 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0004g0105 a0002c0002t0004g0110 a0002c0002t0004g0126 a0002c0002t0004g0127 a0002c0002t0004g0130 a0002c0002t0004g0151 a0002c0002t0009g0131 a0002c0002t0016g0150 a0002c0002t0025g0155 a0002c0002t0027g0119	28	378	0.0741	20	c.186 others(37): Show c.1865-766_1865-747dupGTGTGTGTGTGTGTGTGTGT	SECISBP2L	ENSG00000138593.9	transcript	ENST00000559471.6	protein_coding	13/17			chr15	TogoVar
SEH1L_chr18_12943011_12992531	12962459	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	388	0.0026	20	c.310 others(35): Show c.310-694_310-675dupTTTTTTTTTTTTTTTTTTTT	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEH1L_chr18_12943011_12992531	12981850	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0311 a0001c0001t0005g0311	1	388	0.0026	20	c.762 others(35): Show c.762-660_762-641dupTTTTTTTTTTTTTTTTTTTT	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEL1L2_chr20_13844247_13995614	13939035	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	324	0.0031	20	c.115 others(37): Show c.115-7265_115-7264insAAAAAAAAAAAAAAAAAAAA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L_chr14_81466547_81538853	81510514	C C	CTCTCTAT others(13): Show CTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	360	0.0028	20	c.341 others(37): Show c.341-4274_341-4273insTATATATATATATATAGAGA	SEL1L	ENSG00000071537.14	transcript	ENST00000336735.9	protein_coding	3/20			chr14	TogoVar
SELENBP1_chr1_151359304_151377705	151367355	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG01106.hp2 others(21): Show HG00544.hp2 HG00597.hp1 HG01106.hp2 HG01934.hp2 HG02055.hp1 HG02155.hp2 HG02602.hp2 HG02723.hp1 HG02818.hp2 HG03486.hp1 HG03710.hp1 HG04199.hp1 HG04204.hp2 NA18948.hp2 NA18953.hp1 NA18965.hp1 NA18970.hp1 NA18972.hp1 NA18997.hp2 NA19001.hp1 NA19057.hp2 NA19063.hp1 NA19087.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0002c0014 a0001c0001 a0001c0011 a0002c0014	a0001c0001t0001 a0001c0011t0001 a0002c0014t0001 a0001c0001t0001 a0001c0011t0001 a0002c0014t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0030 others(13): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0150 a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0218 a0001c0011t0001g0093 a0002c0014t0001g0154	24	438	0.0548	20	c.482 others(35): Show c.482-452_482-451insCTTTTCTTTTTTTTTTTTTT	SELENBP1	ENSG00000143416.21	transcript	ENST00000368868.10	protein_coding	5/11			chr1	TogoVar
SELENON_chr1_25795193_25823221	25812564	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	392	0.0026	20	c.128 others(36): Show c.1282-100_1282-81dupACACACACACACACACACAC	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding	9/12		WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS&INFO_REALIGN_3_PRIME	chr1	TogoVar
SELENON_chr1_25795193_25823221	25819429	T T	TGTGTGAG others(13): Show TGTGTGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0020 a0001c0004t0001g0020	1	392	0.0026	20	c.37 others(31): Show c.3711_*3712insGTGTGAGAGAGAGAGAGAGA	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding		1209	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr1	TogoVar
SELENON_chr1_25795193_25823221	25819429	T T	TGTGTGTG others(13): Show TGTGTGTGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0036 a0001c0004t0001g0036	1	392	0.0026	20	c.37 others(31): Show c.3711_*3712insGTGTGTGAGAGAGAGAGAGA	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding		1209	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr1	TogoVar
SELENON_chr1_25795193_25823221	25819429	T T	TGTGTGTG others(13): Show TGTGTGTGTGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0020 a0001c0004t0001g0020	1	392	0.0026	20	c.37 others(31): Show c.3711_*3712insGTGTGTGTGAGAGAGAGAGA	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding		1209	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr1	TogoVar
SELENOT_chr3_150598321_150635436	150631202	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02080.hp1 HG02083.hp2 others(6): Show HG01884.hp1 HG02080.hp1 HG02083.hp2 HG02559.hp2 NA18946.hp1 NA18978.hp1 NA18999.hp2 NA19058.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0002g0041 others(6): Show a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0002g0041 a0001c0001t0002g0048 a0001c0001t0002g0158 a0001c0001t0002g0173 a0001c0001t0002g0196 a0001c0001t0002g0213 a0001c0001t0002g0223	9	380	0.0237	20	c.35 others(31): Show c.3573_*3574insAAAAAAAAAAAAAAAAAAAA	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding		767		chr3	TogoVar
SELENOV_chr19_39510139_39525675	39517991	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02071.hp2 HG00558.hp1 HG02071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0169 a0001c0002t0001g0170	2	436	0.0046	20	c.810 others(35): Show c.810-617_810-616insAAAAAAAAAAAAAAAAAAAG	SELENOV	ENSG00000186838.15	transcript	ENST00000335426.9	protein_coding	1/5			chr19	TogoVar
SELL_chr1_169685667_169716620	169692225	T T	TTTTAATT others(13): Show TTTTAATTTAATTTAATTTAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp2 HG01169.hp1 others(13): Show HG00733.hp2 HG01074.hp2 HG01169.hp1 HG02055.hp1 HG02145.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 NA18973.hp2 NA18977.hp2 NA18994.hp2 NA19002.hp1 NA19010.hp1 NA19068.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0074 others(1): Show a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0074 a0002c0002t0001g0088	16	432	0.0370	20	c.110 others(37): Show c.1101-443_1101-424dupTTAAATTAAATTAAATTAAA	SELL	ENSG00000188404.10	transcript	ENST00000236147.6	protein_coding	8/8			chr1	TogoVar
SELP_chr1_169583849_169635124	169603305	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0024 a0005c0004t0001g0024	2	326	0.0061	20	c.152 others(35): Show c.1520-95_1520-94insCACACACACACACACACACA	SELP	ENSG00000174175.17	transcript	ENST00000263686.11	protein_coding	9/16			chr1	TogoVar
SEMA3A_chr7_83950777_84199789	83965666	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	276	0.0036	20	c.171 others(39): Show c.1718-2320_1718-2319insAATATATATATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965666	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	276	0.0036	20	c.171 others(39): Show c.1718-2320_1718-2319insAAAAAATATATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83980623	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0152 a0001c0001t0004g0152	1	276	0.0036	20	c.165 others(37): Show c.1652+697_1652+698insATATATTTTTTTTTTTTTTT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	14/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84000138	T T	TAAATCTA others(13): Show TAAATCTAAACATACATACTC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG06807.hp1 HG01071.hp2 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0190 a0001c0003t0012g0232 a0001c0003t0012g0190 a0001c0003t0012g0232	2	276	0.0073	20	c.145 others(39): Show c.1452+1797_1452+1816dupGAGTATGTATGTTTAGATTT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	12/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091167	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0180 a0001c0001t0010g0180	1	276	0.0036	20	c.453 others(39): Show c.453+19283_453+19302dupTTTCTTTCTTTCTTTCTTTC	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84095358	C C	CACACACA others(13): Show CACACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0015 a0001c0001t0025g0015	1	276	0.0036	20	c.453 others(39): Show c.453+15111_453+15112insATATATATATATATGTGTGT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84095358	C C	CACATATA others(13): Show CACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02572.hp2 HG03491.hp2 others(4): Show HG02071.hp2 HG02572.hp2 HG03491.hp2 NA18953.hp1 NA18956.hp2 NA19009.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0005 a0001c0004t0037 a0001c0005t0001 others(1): Show a0001c0004t0005 a0001c0004t0037 a0001c0005t0001 a0001c0005t0010	a0001c0004t0005g0051 a0001c0004t0005g0149 a0001c0004t0037g0017 others(4): Show a0001c0004t0005g0051 a0001c0004t0005g0149 a0001c0004t0037g0017 a0001c0005t0001g0011 a0001c0005t0001g0140 a0001c0005t0010g0135 a0001c0005t0010g0139	7	276	0.0254	20	c.453 others(39): Show c.453+15111_453+15112insATATATATATATATATATGT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84095358	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0010 a0002c0006t0010	a0002c0006t0010g0004 a0002c0006t0010g0004	1	276	0.0036	20	c.453 others(39): Show c.453+15092_453+15111dupATATATATATATATATATAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84136958	G G	GAGGGAGG others(13): Show GAGGGAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	276	0.0036	20	c.113 others(37): Show c.113-2008_113-2007insTCCTTCCTTCCTTCCTCCCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	1/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84136960	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03471.hp2 HG02615.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0006 a0001c0001t0004 a0001c0003t0006	a0001c0001t0004g0008 a0001c0003t0006g0072 a0001c0001t0004g0008 a0001c0003t0006g0072	2	276	0.0073	20	c.113 others(37): Show c.113-2029_113-2010dupCTTCCTTCCTTCCTTCCTTC	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	1/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84195012	G G	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0154 a0001c0003t0012g0154	1	276	0.0036	20	c.-42 others(29): Show c.-427_-426insTTCTCTCTCTCTCTCTCTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding		224		chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84195016	G G	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02965.hp2 HG03453.hp1 others(2): Show HG02622.hp2 HG02965.hp2 HG03453.hp1 HG03453.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0007 a0001c0001t0009 a0001c0003t0006 others(1): Show a0001c0001t0007 a0001c0001t0009 a0001c0003t0006 a0001c0004t0008	a0001c0001t0007g0158 a0001c0001t0009g0162 a0001c0003t0006g0161 others(2): Show a0001c0001t0007g0158 a0001c0001t0009g0162 a0001c0003t0006g0161 a0001c0003t0006g0163 a0001c0004t0008g0157	5	276	0.0181	20	c.-43 others(29): Show c.-431_-430insTTCTCTCTCTCTCTCTCTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding		228		chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84195018	G G	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0164 a0001c0005t0001g0164	1	276	0.0036	20	c.-43 others(29): Show c.-433_-432insTTCTCTCTCTCTCTCTCTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding		230		chr7	TogoVar
SEMA3B_chr3_50264147_50282546	50272879	T T	TAATAATA others(13): Show TAATAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	390	0.0026	20	c.665 others(35): Show c.665-417_665-416insTAATAATAATAATAATAAAA	SEMA3B	ENSG00000012171.20	transcript	ENST00000616701.5	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEMA3C_chr7_80737538_80924051	80746718	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03654.hp1 NA18994.hp1 others(2): Show HG01884.hp2 HG03654.hp1 NA18994.hp1 NA19065.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0147 others(2): Show a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0147 a0001c0001t0001g0203 a0001c0002t0001g0157	5	244	0.0205	20	c.184 others(39): Show c.1843-1431_1843-1412dupACACACACACACACACACAC	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	17/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80750473	T T	TATATATA others(13): Show TATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0010 a0001c0004t0001g0010	1	244	0.0041	20	c.171 others(37): Show c.1711+795_1711+796insGTGTGTGTATATATATATAT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	16/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80754964	T T	TTTTGTTT others(13): Show TTTTGTTTTTTTTGTTTTTTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(99): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01168.hp1 HG01243.hp1 HG01257.hp1 HG01261.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp2 HG01981.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02451.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03704.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp2 NA18949.hp2 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18971.hp2 NA18972.hp2 NA18978.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19043.hp2 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19085.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0014 a0001c0017 a0001c0027 a0002c0005 a0002c0010 a0003c0011 a0006c0022	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(20): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0002t0013 a0001c0003t0002 a0001c0004t0001 a0001c0006t0001 a0001c0006t0017 a0001c0007t0003 a0001c0008t0003 a0001c0009t0001 a0001c0009t0007 a0001c0014t0002 a0001c0017t0003 a0001c0027t0001 a0002c0005t0001 a0002c0005t0015 a0002c0010t0001 a0003c0011t0004 a0006c0022t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0019 others(99): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0126 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0004g0046 a0001c0001t0012g0135 a0001c0001t0014g0223 a0001c0001t0016g0122 a0001c0002t0001g0025 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0054 a0001c0002t0001g0072 a0001c0002t0001g0078 a0001c0002t0001g0088 a0001c0002t0001g0100 a0001c0002t0001g0104 a0001c0002t0001g0131 a0001c0002t0001g0144 a0001c0002t0001g0149 a0001c0002t0001g0160 a0001c0002t0001g0164 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0192 a0001c0002t0001g0196 a0001c0002t0001g0208 a0001c0002t0001g0216 a0001c0002t0001g0224 a0001c0002t0001g0230 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0242 a0001c0002t0013g0099 a0001c0003t0002g0167 a0001c0004t0001g0009 a0001c0004t0001g0010 a0001c0004t0001g0018 a0001c0004t0001g0024 a0001c0004t0001g0139 a0001c0004t0001g0187 a0001c0004t0001g0234 a0001c0006t0001g0011 a0001c0006t0001g0023 a0001c0006t0001g0134 a0001c0006t0001g0150 a0001c0006t0001g0180 a0001c0006t0001g0201 a0001c0006t0017g0244 a0001c0007t0003g0050 a0001c0007t0003g0056 a0001c0007t0003g0086 a0001c0007t0003g0090 a0001c0007t0003g0095 a0001c0007t0003g0096 a0001c0007t0003g0243 a0001c0008t0003g0231 a0001c0009t0001g0004 a0001c0009t0001g0045 a0001c0009t0001g0048 a0001c0009t0007g0005 a0001c0009t0007g0006 a0001c0014t0002g0017 a0001c0017t0003g0232 a0001c0027t0001g0092 a0002c0005t0001g0071 a0002c0005t0001g0111 a0002c0005t0001g0112 a0002c0005t0001g0113 a0002c0005t0015g0211 a0002c0010t0001g0033 a0003c0011t0004g0068 a0006c0022t0001g0162	102	244	0.4180	20	c.164 others(39): Show c.1643+3366_1643+3367insCAAAAAACAAAAAAAACAAA	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	15/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80754966	T T	TTGTTTTT others(13): Show TTGTTTTTTTTGTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02630.hp1 others(3): Show HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02976.hp1 NA19240.hp2 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0007 a0001c0008 others(3): Show a0001c0002 a0001c0007 a0001c0008 a0002c0018 a0004c0015 a0004c0021	a0001c0002t0001 a0001c0007t0005 a0001c0008t0005 others(3): Show a0001c0002t0001 a0001c0007t0005 a0001c0008t0005 a0002c0018t0008 a0004c0015t0003 a0004c0021t0003	a0001c0002t0001g0062 a0001c0007t0005g0064 a0001c0008t0005g0171 others(3): Show a0001c0002t0001g0062 a0001c0007t0005g0064 a0001c0008t0005g0171 a0002c0018t0008g0115 a0004c0015t0003g0051 a0004c0021t0003g0049	6	244	0.0246	20	c.164 others(39): Show c.1643+3364_1643+3365insCAAAAAAAACAAAAAAAACA	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	15/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80785008	A A	AGTTCCTC others(13): Show AGTTCCTCTTTCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0206 a0001c0003t0002g0206	1	244	0.0041	20	c.135 others(39): Show c.1354+4297_1354+4298insGGAGGAAGGGAAAGAGGAAC	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	12/17			chr7	TogoVar

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