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
SEC24D_chr4_118717823_118841126	118804885	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02258.hp1 HG02717.hp1 others(3): Show HG00735.hp2 HG02258.hp1 HG02717.hp1 HG03130.hp2 NA20129.hp1 NA20300.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0001c0009 a0016c0022 a0001c0001 a0001c0009 a0016c0022	a0001c0001t0001 a0001c0009t0001 a0016c0022t0001 a0001c0001t0001 a0001c0009t0001 a0016c0022t0001	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0291 others(3): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0291 a0001c0009t0001g0293 a0001c0009t0001g0294 a0016c0022t0001g0292	6	79	0.0759	-18	c.913 others(33): Show c.913+940_913+957delGTGTGTGTGTGTGTGTGT	SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	7/22			chr4	TogoVar
SEC61A2_chr10_12124677_12170407	12131682	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03225.hp1 NA19030.hp2 HG02647.hp2 HG03225.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0007 a0001c0001t0010 a0001c0002t0007	a0001c0001t0010g0257 a0001c0002t0007g0258 a0001c0002t0007g0259 a0001c0001t0010g0257 a0001c0002t0007g0258 a0001c0002t0007g0259	3	114	0.0263	-18	c.8-1 others(31): Show c.8-1548_8-1531delTTTTTTTTTTTTTTTTTT	SEC61A2	ENSG00000065665.21	transcript	ENST00000298428.14	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SEC63_chr6_107862756_107963208	107863971	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	76	0.0132	-18	c.77 others(29): Show c.7715_*7732delACACACACACACACACAC	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding		3784		chr6	TogoVar
SEC63_chr6_107862756_107963208	107865870	CATAAAAC others(11): Show CATAAAACTATCTTTGACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(232): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19064.hp1 NA19067.hp1 NA19067.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19088.hp1 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0002c0004 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(45): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0002t0001 a0001c0002t0007 a0001c0003t0006 a0001c0006t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0014 a0001c0012t0001 a0002c0004t0003 a0003c0007t0042	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0059 others(229): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0208 a0001c0001t0001g0226 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0074 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0106 a0001c0001t0003g0115 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0206 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0227 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0006g0209 a0001c0001t0006g0210 a0001c0001t0006g0211 a0001c0001t0006g0212 a0001c0001t0006g0213 a0001c0001t0006g0214 a0001c0001t0006g0215 a0001c0001t0006g0217 a0001c0001t0006g0219 a0001c0001t0006g0221 a0001c0001t0006g0222 a0001c0001t0006g0223 a0001c0001t0006g0279 a0001c0001t0007g0045 a0001c0001t0008g0015 a0001c0001t0008g0016 a0001c0001t0008g0018 a0001c0001t0008g0021 a0001c0001t0008g0022 a0001c0001t0008g0055 a0001c0001t0009g0093 a0001c0001t0009g0094 a0001c0001t0009g0095 a0001c0001t0009g0097 a0001c0001t0009g0112 a0001c0001t0009g0175 a0001c0001t0010g0083 a0001c0001t0010g0084 a0001c0001t0010g0087 a0001c0001t0010g0088 a0001c0001t0010g0089 a0001c0001t0010g0090 a0001c0001t0012g0011 a0001c0001t0012g0012 a0001c0001t0012g0013 a0001c0001t0012g0014 a0001c0001t0014g0312 a0001c0001t0014g0315 a0001c0001t0014g0318 a0001c0001t0016g0176 a0001c0001t0016g0177 a0001c0001t0016g0178 a0001c0001t0017g0316 a0001c0001t0017g0317 a0001c0001t0017g0319 a0001c0001t0019g0046 a0001c0001t0019g0047 a0001c0001t0020g0019 a0001c0001t0020g0020 a0001c0001t0021g0203 a0001c0001t0021g0228 a0001c0001t0022g0132 a0001c0001t0022g0135 a0001c0001t0023g0103 a0001c0001t0023g0133 a0001c0001t0024g0056 a0001c0001t0024g0057 a0001c0001t0027g0017 a0001c0001t0029g0207 a0001c0001t0030g0179 a0001c0001t0031g0096 a0001c0001t0032g0314 a0001c0001t0033g0313 a0001c0001t0034g0124 a0001c0001t0035g0085 a0001c0001t0036g0068 a0001c0001t0037g0251 a0001c0001t0038g0086 a0001c0001t0039g0141 a0001c0001t0040g0082 a0001c0001t0041g0064 a0001c0001t0043g0065 a0001c0001t0044g0145 a0001c0001t0045g0216 a0001c0001t0046g0167 a0001c0001t0047g0073 a0001c0001t0048g0078 a0001c0002t0001g0007 a0001c0002t0007g0048 a0001c0002t0007g0049 a0001c0002t0007g0050 a0001c0002t0007g0051 a0001c0002t0007g0052 a0001c0002t0007g0053 a0001c0002t0007g0054 a0001c0003t0006g0204 a0001c0003t0006g0218 a0001c0003t0006g0220 a0001c0006t0001g0157 a0001c0008t0001g0152 a0001c0009t0001g0275 a0001c0010t0001g0116 a0001c0011t0014g0205 a0001c0012t0001g0321 a0002c0004t0003g0159 a0002c0004t0003g0171 a0003c0007t0042g0320	235	330	0.7121	-18	c.58 others(29): Show c.5816_*5833delTGTCAAAGATAGTTTTAT	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding		1885		chr6	TogoVar
SEC63_chr6_107862756_107963208	107893107	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03098.hp1 HG02922.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0046 a0001c0001t0019g0047 a0001c0001t0019g0046 a0001c0001t0019g0047	2	18	0.1111	-18	c.167 others(35): Show c.1674+357_1674+374delGTGTGTGTGTGTGTGTGT	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding	16/20			chr6	TogoVar
SECISBP2_chr9_89313500_89364663	89352989	ATGTCCTC others(11): Show ATGTCCTCTGTGTCCTAGT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01168.hp1 HG02257.hp2 others(8): Show HG01109.hp2 HG01168.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02630.hp1 HG02723.hp1 HG02922.hp2 HG02965.hp1 HG03209.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0245 a0001c0001t0001g0246 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248	11	378	0.0291	-18	c.211 others(37): Show c.2113+2142_2113+2159delCTCTGTGTCCTAGTTGTC	SECISBP2	ENSG00000187742.15	transcript	ENST00000375807.8	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
SEL1L2_chr20_13844247_13995614	13917786	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	32	0.0313	-18	c.386 others(35): Show c.386+1217_386+1234delAAAAAAAAAAAAAAAAAA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	4/19			chr20	TogoVar
SEL1L3_chr4_25742433_25867988	25788569	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	22	0.0455	-18	c.207 others(35): Show c.2077-223_2077-206delACACACACACACACACAC	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	12/23			chr4	TogoVar
SEL1L_chr14_81466547_81538853	81467572	TTTGTTGT others(11): Show TTTGTTGTTGTTGTTGTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02615.hp1 HG02717.hp1 others(12): Show HG02280.hp2 HG02615.hp1 HG02717.hp1 HG02895.hp1 HG02897.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0041 a0001c0004t0016	a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0031 others(8): Show a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0002t0001g0298 a0001c0002t0004g0026 a0001c0002t0005g0002 a0001c0002t0005g0024 a0001c0002t0005g0103 a0001c0002t0005g0307 a0001c0002t0041g0326 a0001c0004t0016g0316	15	217	0.0691	-18	c.93 others(29): Show c.9382_*9399delCAACAACAACAACAACAA	SEL1L	ENSG00000071537.14	transcript	ENST00000336735.9	protein_coding		3974		chr14	TogoVar
SEL1L_chr14_81466547_81538853	81510472	ATCTCTCT others(11): Show ATCTCTCTCTCTCTCTCTC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG02451.hp1 others(12): Show HG01109.hp1 HG01243.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03540.hp1 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0024 a0001c0002t0004 a0001c0002t0024	a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0026 others(7): Show a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0026 a0001c0002t0004g0319 a0001c0002t0004g0320 a0001c0002t0004g0321 a0001c0002t0004g0322 a0001c0002t0004g0323 a0001c0002t0004g0327 a0001c0002t0024g0027	15	272	0.0551	-18	c.341 others(35): Show c.341-4249_341-4232delGAGAGAGAGAGAGAGAGA	SEL1L	ENSG00000071537.14	transcript	ENST00000336735.9	protein_coding	3/20			chr14	TogoVar
SEL1L_chr14_81466547_81538853	81527438	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0107 a0001c0001t0006g0107	1	87	0.0115	-18	c.108 others(33): Show c.108+245_108+262delGTGTGTGTGTGTGTGTGT	SEL1L	ENSG00000071537.14	transcript	ENST00000336735.9	protein_coding	2/20			chr14	TogoVar
SELENOF_chr1_86857445_86919126	86866230	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02818.hp2 HG03130.hp2 others(1): Show HG02486.hp1 HG02818.hp2 HG03130.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 others(1): Show a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0064	4	50	0.0800	-18	c.366 others(35): Show c.366+1805_366+1822delCACACACACACACACACA	SELENOF	ENSG00000183291.18	transcript	ENST00000331835.10	protein_coding	4/4			chr1	TogoVar
SELENOI_chr2_26341143_26400885	26348996	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0287 a0001c0001t0005g0287	1	9	0.1111	-18	c.57+ others(33): Show c.57+2725_57+2742delTTTTTTTTTTTTTTTTTT	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SELENON_chr1_25795193_25823221	25819415	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG03540.hp1 HG02647.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0043 a0001c0002t0017g0043	2	384	0.0052	-18	c.36 others(29): Show c.3698_*3715delGTGTGTGTGTGTGTGAGA	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding		1195	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr1	TogoVar
SELPLG_chr12_108616895_108638894	108632389	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18964.hp2 NA18950.hp2 NA18964.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0002 a0002c0002t0001 a0003c0003t0002	a0002c0002t0001g0356 a0003c0003t0002g0118 a0002c0002t0001g0356 a0003c0003t0002g0118	2	170	0.0118	-18	c.-6+ others(33): Show c.-6+1333_-6+1350delACACACACACACACACAC	SELPLG	ENSG00000110876.10	transcript	ENST00000550948.2	protein_coding	1/1			chr12	TogoVar
SEMA3A_chr7_83950777_84199789	83965627	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG02717.hp2 HG01168.hp2 HG01169.hp2 HG02717.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0006 a0001c0005t0004 a0001c0004t0006 a0001c0005t0004	a0001c0004t0006g0080 a0001c0005t0004g0027 a0001c0005t0004g0028 a0001c0004t0006g0080 a0001c0005t0004g0027 a0001c0005t0004g0028	3	235	0.0128	-18	c.171 others(37): Show c.1718-2298_1718-2281delATATATATATATATATAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965650	ATATATAT others(11): Show ATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03654.hp1 HG00733.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0005t0004 a0001c0001t0004 a0001c0005t0004	a0001c0001t0004g0152 a0001c0005t0004g0194 a0001c0001t0004g0152 a0001c0005t0004g0194	2	267	0.0075	-18	c.171 others(37): Show c.1718-2321_1718-2304delAATATATATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091200	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0010 a0002c0006t0010	a0002c0006t0010g0183 a0002c0006t0010g0183	1	274	0.0036	-18	c.453 others(37): Show c.453+19252_453+19269delTCTTTTCTTTCTTTCTTT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3B_chr3_50264147_50282546	50271838	TGAGCATT others(11): Show TGAGCATTCCAGGCAGAGG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02922.hp1 HG02572.hp2 HG02922.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0025 a0002c0008t0004g0025	2	388	0.0052	-18	c.664 others(33): Show c.664+382_664+399delTTCCAGGCAGAGGGAGCA	SEMA3B	ENSG00000012171.20	transcript	ENST00000616701.5	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEMA3C_chr7_80737538_80924051	80750435	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19065.hp2 NA19079.hp2 others(1): Show HG02615.hp2 NA19065.hp2 NA19079.hp2 NA19091.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0002 a0001c0008t0006 a0001c0003t0002 a0001c0008t0006	a0001c0003t0002g0007 a0001c0003t0002g0021 a0001c0003t0002g0183 others(1): Show a0001c0003t0002g0007 a0001c0003t0002g0021 a0001c0003t0002g0183 a0001c0008t0006g0107	4	145	0.0276	-18	c.171 others(35): Show c.1711+816_1711+833delATATATATATATATATAT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	16/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80750457	TATATATA others(11): Show TATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp1 others(16): Show HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG01358.hp2 HG02040.hp1 HG02080.hp1 HG02129.hp1 HG02135.hp2 HG02300.hp1 NA18944.hp2 NA18950.hp2 NA18962.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0013 a0002c0019 a0001c0003 a0001c0013 a0002c0019	a0001c0003t0002 a0001c0003t0010 a0001c0013t0002 others(1): Show a0001c0003t0002 a0001c0003t0010 a0001c0013t0002 a0002c0019t0002	a0001c0003t0002g0001 a0001c0003t0002g0002 a0001c0003t0002g0031 others(16): Show a0001c0003t0002g0001 a0001c0003t0002g0002 a0001c0003t0002g0031 a0001c0003t0002g0034 a0001c0003t0002g0129 a0001c0003t0002g0130 a0001c0003t0002g0151 a0001c0003t0002g0152 a0001c0003t0002g0167 a0001c0003t0002g0179 a0001c0003t0002g0191 a0001c0003t0002g0197 a0001c0003t0002g0208 a0001c0003t0002g0211 a0001c0003t0010g0058 a0001c0013t0002g0083 a0001c0013t0002g0177 a0001c0013t0002g0233 a0002c0019t0002g0209	19	240	0.0792	-18	c.171 others(35): Show c.1711+794_1711+811delGTATATATATATATATAT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	16/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80750459	TATATATA others(11): Show TATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03139.hp1 HG02486.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0229 a0001c0002t0001g0125 a0001c0002t0001g0229	2	242	0.0083	-18	c.171 others(35): Show c.1711+792_1711+809delGTGTATATATATATATAT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	16/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80881530	GGTGTAAG others(11): Show GGTGTAAGTGATTTTACAT	G G	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0077 a0002c0005t0001g0077	1	242	0.0041	-18	c.103 others(37): Show c.103+35131_103+35148delATGTAAAATCACTTACAC	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85050072	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0029 a0001c0006t0029	a0001c0006t0029g0138 a0001c0006t0029g0138	1	49	0.0204	-18	c.861 others(35): Show c.861+5627_861+5644delGTGTGTGTGTGTGTGTGT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	9/18			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85055645	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0156 a0002c0003t0006g0156	1	20	0.0500	-18	c.861 others(31): Show c.861+54_861+71delATATATATATATATATAT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	9/18			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83363860	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp1 HG01081.hp2 HG01261.hp1 others(22): Show HG00621.hp1 HG01081.hp2 HG01261.hp1 HG01496.hp2 HG02027.hp1 HG02083.hp1 HG02300.hp1 HG02451.hp1 HG02886.hp1 HG03098.hp1 HG03490.hp2 HG03492.hp1 HG04115.hp2 NA18942.hp2 NA18950.hp1 NA18953.hp1 NA18954.hp2 NA18963.hp1 NA18984.hp2 NA19002.hp1 NA19012.hp2 NA19058.hp1 NA19074.hp2 NA19077.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0002c0004 a0004c0013	a0001c0001t0002 a0001c0001t0015 a0001c0001t0022 others(6): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0022 a0001c0001t0024 a0001c0002t0002 a0001c0010t0012 a0002c0004t0002 a0002c0004t0015 a0004c0013t0002	a0001c0001t0002g0086 a0001c0001t0002g0093 a0001c0001t0015g0199 others(22): Show a0001c0001t0002g0086 a0001c0001t0002g0093 a0001c0001t0015g0199 a0001c0001t0022g0055 a0001c0001t0022g0177 a0001c0001t0024g0217 a0001c0002t0002g0061 a0001c0010t0012g0012 a0002c0004t0002g0045 a0002c0004t0002g0054 a0002c0004t0002g0060 a0002c0004t0002g0088 a0002c0004t0002g0091 a0002c0004t0002g0110 a0002c0004t0002g0113 a0002c0004t0002g0117 a0002c0004t0002g0121 a0002c0004t0002g0122 a0002c0004t0002g0123 a0002c0004t0002g0142 a0002c0004t0002g0160 a0002c0004t0002g0164 a0002c0004t0002g0168 a0002c0004t0015g0184 a0004c0013t0002g0153	25	51	0.4902	-18	c.37 others(29): Show c.3708_*3725delAAAAAAAAAAAAAAAAAA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	17/17	3708		chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83507424	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00735.hp1 others(23): Show HG00438.hp2 HG00621.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01243.hp2 HG01928.hp1 HG01978.hp1 HG02027.hp1 HG02148.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG03209.hp2 HG03490.hp1 HG03579.hp1 HG03942.hp1 HG04204.hp1 NA18961.hp1 NA18983.hp2 NA18995.hp1 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004	a0001c0001t0004 a0001c0001t0006 a0001c0001t0034 others(8): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0034 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0006 a0001c0005t0007 a0001c0005t0059 a0002c0004t0002	a0001c0001t0004g0179 a0001c0001t0006g0189 a0001c0001t0034g0016 others(23): Show a0001c0001t0004g0179 a0001c0001t0006g0189 a0001c0001t0034g0016 a0001c0002t0001g0046 a0001c0002t0002g0061 a0001c0002t0003g0036 a0001c0002t0003g0041 a0001c0002t0003g0044 a0001c0003t0001g0028 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0039 a0001c0003t0001g0040 a0001c0003t0001g0148 a0001c0003t0006g0200 a0001c0003t0006g0201 a0001c0003t0006g0202 a0001c0003t0006g0203 a0001c0003t0006g0204 a0001c0003t0006g0205 a0001c0005t0007g0215 a0001c0005t0059g0132 a0002c0004t0002g0168	26	62	0.4194	-18	c.116 others(37): Show c.116-17168_116-17151delCACACACACACACACACA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83546321	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01891.hp1 HG02055.hp1 others(5): Show HG01070.hp2 HG01891.hp1 HG02055.hp1 HG02630.hp2 HG02895.hp1 HG02897.hp2 NA18906.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0003c0007	a0001c0001t0017 a0001c0001t0025 a0001c0001t0027 others(4): Show a0001c0001t0017 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0002t0030 a0001c0005t0029 a0003c0007t0026	a0001c0001t0017g0002 a0001c0001t0017g0003 a0001c0001t0025g0001 others(5): Show a0001c0001t0017g0002 a0001c0001t0017g0003 a0001c0001t0025g0001 a0001c0001t0027g0007 a0001c0001t0028g0004 a0001c0002t0030g0008 a0001c0005t0029g0005 a0003c0007t0026g0006	8	40	0.2000	-18	c.116 others(37): Show c.116-56065_116-56048delACACACACACACACACAC	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83593284	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01081.hp1 HG02083.hp1 others(13): Show HG00733.hp1 HG01081.hp1 HG02083.hp1 HG02572.hp2 HG02698.hp1 HG02886.hp2 HG03490.hp1 HG03491.hp1 HG04204.hp1 NA18954.hp2 NA18961.hp1 NA18995.hp1 NA19004.hp1 NA19074.hp1 NA19074.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0050 a0001c0005t0014 a0001c0005t0033 a0002c0004t0002	a0001c0001t0001g0042 a0001c0001t0005g0043 a0001c0002t0001g0037 others(13): Show a0001c0001t0001g0042 a0001c0001t0005g0043 a0001c0002t0001g0037 a0001c0002t0003g0041 a0001c0002t0003g0044 a0001c0003t0001g0028 a0001c0003t0001g0030 a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0131 a0001c0003t0050g0029 a0001c0005t0014g0027 a0001c0005t0033g0014 a0002c0004t0002g0045 a0002c0004t0002g0122 a0002c0004t0002g0123	16	72	0.2222	-18	c.115 others(37): Show c.115+55126_115+55143delCACACACACACACACACA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA4A_chr1_156148585_156182744	156179113	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	53	0.0189	-18	c.21 others(29): Show c.2117_*2134delTGTGTGTGTGTGTGTGTG	SEMA4A	ENSG00000196189.14	transcript	ENST00000368285.8	protein_coding		1370		chr1	TogoVar
SEMA4D_chr9_89372235_89503113	89372251	CTGTGGTG others(11): Show CTGTGGTGGGTGTGTGGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0202 a0001c0001t0003g0202	1	368	0.0027	-18	c.64 others(29): Show c.6435_*6452delCCCCACACACCCACCACA	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding		4983		chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89438964	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp2 HG02922.hp1 HG01884.hp2 HG02559.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0004 a0001c0001t0003 a0001c0004t0004	a0001c0001t0003g0202 a0001c0004t0004g0082 a0001c0004t0004g0083 a0001c0001t0003g0202 a0001c0004t0004g0082 a0001c0004t0004g0083	3	28	0.1071	-18	c.-24 others(39): Show c.-244+16906_-244+16923delAAAAAAAAAAAAAAAAAA	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89450850	GCCAGCAG others(11): Show GCCAGCAGAGTGGGGGTGT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01168.hp2 HG02615.hp1 others(2): Show HG01109.hp2 HG01168.hp2 HG02615.hp1 HG03225.hp2 HG03453.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0004c0010	a0001c0001t0010 a0001c0003t0003 a0001c0007t0001 others(1): Show a0001c0001t0010 a0001c0003t0003 a0001c0007t0001 a0004c0010t0003	a0001c0001t0010g0165 a0001c0003t0003g0036 a0001c0007t0001g0168 others(2): Show a0001c0001t0010g0165 a0001c0003t0003g0036 a0001c0007t0001g0168 a0001c0007t0001g0169 a0004c0010t0003g0164	5	368	0.0136	-18	c.-24 others(37): Show c.-244+5020_-244+5037delACACCCCCACTCTGCTGG	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89485788	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02896.hp1 HG02897.hp2 others(3): Show HG01109.hp1 HG02896.hp1 HG02897.hp2 HG03041.hp2 NA19030.hp1 NA20300.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0008c0015	a0001c0001t0001 a0001c0003t0001 a0001c0004t0004 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0004 a0002c0002t0001 a0008c0015t0018	a0001c0001t0001g0176 a0001c0003t0001g0174 a0001c0003t0001g0175 others(3): Show a0001c0001t0001g0176 a0001c0003t0001g0174 a0001c0003t0001g0175 a0001c0004t0004g0178 a0002c0002t0001g0179 a0008c0015t0018g0177	6	121	0.0496	-18	c.-31 others(39): Show c.-310+12113_-310+12130delTTTTTTTTTTTTTTTTTT	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9076868	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0088 a0001c0006t0007g0088	1	74	0.0135	-18	c.207 others(39): Show c.2074-10240_2074-10223delCACACACACACACACACA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	16/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9123258	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02280.hp1 HG03516.hp1 others(1): Show HG00639.hp2 HG02280.hp1 HG03516.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0028 a0001c0001t0068 a0001c0003t0079 others(1): Show a0001c0001t0028 a0001c0001t0068 a0001c0003t0079 a0001c0007t0034	a0001c0001t0028g0006 a0001c0001t0068g0129 a0001c0003t0079g0126 others(1): Show a0001c0001t0028g0006 a0001c0001t0068g0129 a0001c0003t0079g0126 a0001c0007t0034g0033	4	13	0.3077	-18	c.160 others(35): Show c.1600-439_1600-422delTTTTTTTTTTTTTTTTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9131641	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0027 a0001c0008t0027	a0001c0008t0027g0035 a0001c0008t0027g0035	1	132	0.0076	-18	c.159 others(37): Show c.1599+4845_1599+4862delGTTTTTTTTTTTTTTTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9197728	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03669.hp2 HG00735.hp2 HG03669.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0058 a0001c0006t0014 a0001c0006t0058	a0001c0006t0014g0060 a0001c0006t0058g0083 a0001c0006t0014g0060 a0001c0006t0058g0083	2	56	0.0357	-18	c.933 others(33): Show c.933-443_933-426delCACACACACACACACACA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	9/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9297175	TATACATA others(11): Show TATACATATGTATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18966.hp2 HG01981.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0005t0002 a0001c0001t0006 a0001c0005t0002	a0001c0001t0006g0061 a0001c0005t0002g0115 a0001c0001t0006g0061 a0001c0005t0002g0115	2	130	0.0154	-18	c.270 others(37): Show c.270+21179_270+21196delGTGTATATACATATGTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	5/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9381971	TGTGTGTG others(11): Show TGTGTGTGTGTGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0101 a0001c0001t0077g0101	1	127	0.0079	-18	c.-77 others(35): Show c.-77-1966_-77-1949delGCGCGCGCACACACACAC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9527649	TAACATTA others(11): Show TAACATTATGGAGTGCTCA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03139.hp1 NA18522.hp2 others(1): Show HG02280.hp1 HG03139.hp1 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0030 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0001t0030 a0001c0003t0003 a0001c0007t0034	a0001c0001t0001g0076 a0001c0001t0030g0032 a0001c0003t0003g0031 others(1): Show a0001c0001t0001g0076 a0001c0001t0030g0032 a0001c0003t0003g0031 a0001c0007t0034g0033	4	132	0.0303	-18	c.-17 others(39): Show c.-175+17917_-175+17934delTGAGCACTCCATAATGTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	1/22			chr5	TogoVar
SEMA5B_chr3_122904082_123032763	122906707	AGGAGGAA others(11): Show AGGAGGAAAAAGAGGAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03688.hp2 HG03710.hp1 HG03239.hp2 HG03688.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0002 a0001c0016t0001 a0001c0001t0002 a0001c0016t0001	a0001c0001t0002g0020 a0001c0001t0002g0162 a0001c0016t0001g0101 a0001c0001t0002g0020 a0001c0001t0002g0162 a0001c0016t0001g0101	3	288	0.0104	-18	c.34 others(29): Show c.3418_*3435delCCCTCCTCTTTTTCCTCC	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding		2374		chr3	TogoVar
SEMA5B_chr3_122904082_123032763	122983716	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02109.hp1 HG02809.hp1 others(4): Show HG01433.hp2 HG02109.hp1 HG02809.hp1 HG02922.hp2 HG03098.hp1 HG03540.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0009c0010	a0001c0001t0001 a0001c0005t0003 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0005t0003 a0002c0002t0001 a0002c0002t0007 a0002c0002t0011 a0003c0003t0011 a0009c0010t0002	a0001c0001t0001g0019 a0001c0005t0003g0026 a0002c0002t0001g0178 others(4): Show a0001c0001t0001g0019 a0001c0005t0003g0026 a0002c0002t0001g0178 a0002c0002t0007g0183 a0002c0002t0011g0182 a0003c0003t0011g0018 a0009c0010t0002g0172	7	37	0.1892	-18	c.-38 others(37): Show c.-38-22433_-38-22416delTTTTTTTTTTTTTTTTTT	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	1/22			chr3	TogoVar
SEMA6A_chr5_116438555_116579823	116464062	TTTCTTTT others(11): Show TTTCTTTTGCTGTGGGAAG	T T	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	302	0.0033	-18	c.189 others(37): Show c.1894+3503_1894+3520delCTTCCCACAGCAAAAGAA	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	18/18			chr5	TogoVar
SEMA6D_chr15_47712505_47779228	47717832	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0159 a0002c0003t0011g0159	1	35	0.0286	-18	c.-55 others(33): Show c.-55+170_-55+187delGTGTGTGTGTGTGTGTGT	SEMA6D	ENSG00000137872.17	transcript	ENST00000536845.7	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SEMG1_chr20_45202033_45214768	45203531	GTGTGTGT others(11): Show GTGTGTGTGTATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	406	0.0025	-18	c.-35 others(29): Show c.-3522_-3505delTGTGTGTGTATATATATA	SEMG1	ENSG00000124233.12	transcript	ENST00000372781.4	protein_coding		3501		chr20	TogoVar
SEMG1_chr20_45202033_45214768	45203539	GTATATAT others(11): Show GTATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0001 a0004c0006t0001g0001	1	35	0.0286	-18	c.-35 others(29): Show c.-3514_-3497delTATATATATATATATATA	SEMG1	ENSG00000124233.12	transcript	ENST00000372781.4	protein_coding		3493		chr20	TogoVar
SENP2_chr3_185581295_185638551	185584452	CATATATA others(11): Show CATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG01099.hp1 others(46): Show HG00423.hp2 HG00609.hp1 HG01099.hp1 HG01109.hp1 HG01261.hp1 HG01433.hp1 HG02015.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02602.hp2 HG02698.hp2 HG03492.hp2 HG03831.hp2 HG03942.hp2 HG04199.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp2 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18962.hp2 NA18973.hp2 NA18977.hp1 NA18981.hp2 NA18983.hp1 NA18989.hp2 NA18995.hp2 NA18998.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19056.hp2 NA19066.hp1 NA19074.hp1 NA19078.hp1 NA19081.hp1 NA19083.hp1 NA19090.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0007 a0002c0002t0009 a0002c0002t0012 others(29): Show a0002c0002t0007 a0002c0002t0009 a0002c0002t0012 a0002c0002t0013 a0002c0002t0016 a0002c0002t0021 a0002c0002t0025 a0002c0002t0026 a0002c0002t0043 a0002c0002t0057 a0002c0002t0071 a0002c0002t0072 a0002c0002t0073 a0002c0002t0074 a0002c0002t0075 a0002c0002t0076 a0002c0002t0077 a0002c0002t0078 a0002c0002t0079 a0002c0002t0082 a0002c0002t0083 a0002c0002t0084 a0002c0002t0085 a0002c0002t0087 a0002c0002t0088 a0002c0002t0089 a0002c0002t0090 a0002c0002t0092 a0002c0002t0093 a0002c0002t0094 a0002c0002t0095 a0004c0006t0165	a0002c0002t0007g0284 a0002c0002t0007g0309 a0002c0002t0007g0311 others(45): Show a0002c0002t0007g0284 a0002c0002t0007g0309 a0002c0002t0007g0311 a0002c0002t0007g0312 a0002c0002t0007g0315 a0002c0002t0007g0318 a0002c0002t0007g0324 a0002c0002t0009g0279 a0002c0002t0009g0286 a0002c0002t0009g0290 a0002c0002t0009g0296 a0002c0002t0009g0328 a0002c0002t0012g0010 a0002c0002t0012g0293 a0002c0002t0012g0321 a0002c0002t0013g0278 a0002c0002t0013g0281 a0002c0002t0013g0288 a0002c0002t0016g0299 a0002c0002t0016g0327 a0002c0002t0021g0308 a0002c0002t0025g0303 a0002c0002t0026g0329 a0002c0002t0026g0331 a0002c0002t0043g0326 a0002c0002t0057g0292 a0002c0002t0071g0307 a0002c0002t0072g0213 a0002c0002t0073g0300 a0002c0002t0074g0310 a0002c0002t0075g0212 a0002c0002t0076g0305 a0002c0002t0077g0325 a0002c0002t0078g0280 a0002c0002t0079g0291 a0002c0002t0082g0282 a0002c0002t0083g0320 a0002c0002t0084g0319 a0002c0002t0085g0304 a0002c0002t0087g0294 a0002c0002t0088g0317 a0002c0002t0089g0287 a0002c0002t0090g0283 a0002c0002t0092g0323 a0002c0002t0093g0298 a0002c0002t0094g0333 a0002c0002t0095g0285 a0004c0006t0165g0191	49	151	0.3245	-18	c.-19 others(29): Show c.-1961_-1944delATATATATATATATATAT	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding		1842		chr3	TogoVar
SENP3_chr17_7556919_7576969	7571837	TTATATAT others(11): Show TTATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp2 HG02273.hp1 HG02300.hp2 others(2): Show HG01496.hp2 HG02273.hp1 HG02300.hp2 HG03490.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0002 a0001c0001t0001g0008	5	320	0.0156	-18	c.40 others(27): Show c.409_*426delTATATATATATATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	409	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP3_chr17_7556919_7576969	7571892	TATATATA others(11): Show TATATATATATATATATAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp1 HG02615.hp2 NA18960.hp2 others(4): Show HG01123.hp1 HG02615.hp2 NA18960.hp2 NA18977.hp2 NA18988.hp1 NA19079.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0033 a0001c0001t0001g0084 a0001c0001t0001g0090	7	438	0.0160	-18	c.41 others(27): Show c.411_*428delTATATATATATATATAAA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	411	INFO_REALIGN_3_PRIME	chr17	TogoVar

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