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
SEC63_chr6_107862756_107963208	107863559	T T	TGCGCGCG others(11): Show TGCGCGCGCGCGCACGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	332	0.0030	18	c.81 others(29): Show c.8144_*8145insGCGCGTGCGCGCGCGCGC	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding		4196		chr6	TogoVar
SEC63_chr6_107862756_107963208	107863559	T T	TGCGCGCG others(11): Show TGCGCGCGCGCGCGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG01074.hp2 others(11): Show HG00642.hp1 HG00738.hp2 HG01074.hp2 HG01243.hp2 HG01981.hp2 HG02280.hp2 HG02922.hp2 HG02976.hp2 HG03492.hp2 HG04204.hp2 NA18977.hp2 NA18999.hp2 NA19001.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0004 a0001c0001 a0001c0009 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0040 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0040 a0001c0009t0001 a0002c0004t0003	a0001c0001t0001g0067 a0001c0001t0001g0117 a0001c0001t0001g0120 others(11): Show a0001c0001t0001g0067 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0242 a0001c0001t0003g0059 a0001c0001t0003g0226 a0001c0001t0003g0229 a0001c0001t0003g0302 a0001c0001t0040g0142 a0001c0009t0001g0277 a0002c0004t0003g0170	14	332	0.0422	18	c.81 others(29): Show c.8144_*8145insGCGCGCGCGCGCGCGCGC	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding		4196		chr6	TogoVar
SEC63_chr6_107862756_107963208	107863559	T T	TGTGCGCG others(11): Show TGTGCGCGCGCGCGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG02572.hp2 HG01099.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0044 a0001c0001t0001 a0001c0001t0044	a0001c0001t0001g0104 a0001c0001t0044g0063 a0001c0001t0001g0104 a0001c0001t0044g0063	2	332	0.0060	18	c.81 others(29): Show c.8144_*8145insGCGCGCGCGCGCGCGCAC	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding		4196		chr6	TogoVar
SEC63_chr6_107862756_107963208	107863571	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	332	0.0030	18	c.81 others(29): Show c.8132_*8133insACACACACACACACACAC	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding		4184		chr6	TogoVar
SEC63_chr6_107862756_107963208	107945198	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02055.hp2 others(2): Show HG01167.hp2 HG01169.hp1 HG02055.hp2 HG02818.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0046 a0001c0002t0007g0049 a0001c0002t0007g0050 others(2): Show a0001c0002t0007g0046 a0001c0002t0007g0049 a0001c0002t0007g0050 a0001c0002t0007g0051 a0001c0002t0007g0052	5	332	0.0151	18	c.124 others(37): Show c.124+12670_124+12687dupTTTTTTTTTTTTTTTTTT	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding	1/20			chr6	TogoVar
SECISBP2L_chr15_48983638_49051446	48993100	A A	AGAGAGTG others(11): Show AGAGAGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19004.hp2 NA18966.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0087 a0001c0001t0003g0070 a0001c0001t0003g0087	2	378	0.0053	18	c.262 others(35): Show c.2624-175_2624-174insACACACACACACACTCTC	SECISBP2L	ENSG00000138593.9	transcript	ENST00000559471.6	protein_coding	17/17			chr15	TogoVar
SECISBP2L_chr15_48983638_49051446	49010124	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01168.hp2 HG02074.hp1 others(17): Show HG00609.hp1 HG01168.hp2 HG02074.hp1 HG02135.hp1 HG02735.hp2 HG02738.hp1 HG02922.hp1 HG03669.hp1 NA18612.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp2 NA18987.hp1 NA19011.hp1 NA19062.hp2 NA19065.hp2 NA19067.hp1 NA19088.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005	a0001c0001t0003 a0001c0001t0011 a0001c0003t0007 others(4): Show a0001c0001t0003 a0001c0001t0011 a0001c0003t0007 a0002c0002t0002 a0002c0002t0004 a0002c0002t0009 a0002c0005t0002	a0001c0001t0003g0074 a0001c0001t0011g0095 a0001c0003t0007g0194 others(17): Show a0001c0001t0003g0074 a0001c0001t0011g0095 a0001c0003t0007g0194 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0141 a0002c0002t0002g0148 a0002c0002t0002g0156 a0002c0002t0004g0100 a0002c0002t0004g0108 a0002c0002t0004g0123 a0002c0002t0004g0125 a0002c0002t0004g0128 a0002c0002t0004g0343 a0002c0002t0009g0129 a0002c0002t0009g0136 a0002c0002t0009g0140 a0002c0002t0009g0152 a0002c0005t0002g0120 a0002c0005t0002g0121	20	378	0.0529	18	c.186 others(35): Show c.1865-764_1865-747dupGTGTGTGTGTGTGTGTGT	SECISBP2L	ENSG00000138593.9	transcript	ENST00000559471.6	protein_coding	13/17			chr15	TogoVar
SECISBP2_chr9_89313500_89364663	89336081	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	380	0.0026	18	c.108 others(37): Show c.1089+1361_1089+1378dupTTTTTTTTTTTTTTTTTT	SECISBP2	ENSG00000187742.15	transcript	ENST00000375807.8	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
SEL1L2_chr20_13844247_13995614	13848313	G G	GAGAAGAA others(11): Show GAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00733.hp1 HG01069.hp1 others(24): Show HG00438.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01261.hp1 HG01361.hp1 HG01952.hp1 HG02109.hp2 HG02148.hp1 HG02155.hp1 HG02809.hp2 HG03453.hp1 HG03927.hp2 NA18747.hp1 NA18942.hp2 NA18948.hp2 NA18952.hp1 NA18954.hp2 NA18966.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA19000.hp1 NA19004.hp2 NA19057.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0011 a0001c0001 a0001c0003 a0001c0011	a0001c0001t0001 a0001c0001t0006 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0003t0001 a0001c0011t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 others(23): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0127 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0156 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0254 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0281 a0001c0001t0001g0295 a0001c0001t0001g0315 a0001c0001t0006g0264 a0001c0003t0001g0001 a0001c0003t0001g0079 a0001c0003t0001g0287 a0001c0011t0001g0135	27	324	0.0833	18	c.11 others(29): Show c.1171_*1172insTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		933		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(11): Show GAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 NA19079.hp1 HG02809.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0255 a0001c0001t0001g0224 a0001c0001t0001g0255	2	324	0.0062	18	c.11 others(29): Show c.1165_*1166insTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGGA others(11): Show GAGAAGGAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	324	0.0031	18	c.11 others(29): Show c.1165_*1166insTCTTCTTCTTCTCCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848356	A A	AGAAGAAG others(11): Show AGAAGAAGAAGAAGAAGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 NA20805.hp2 HG01069.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0276 a0001c0001t0001g0169 a0001c0001t0001g0276	2	324	0.0062	18	c.11 others(29): Show c.1128_*1129insGACTTCTTCTTCTTCTTC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		890		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848370	A A	AGAAGAAG others(11): Show AGAAGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00609.hp1 others(46): Show HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG01109.hp2 HG01243.hp1 HG01358.hp2 HG01496.hp1 HG01943.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02132.hp2 HG02148.hp2 HG02293.hp2 HG02572.hp2 HG02698.hp1 HG02735.hp1 HG03139.hp2 HG03209.hp2 HG03516.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp2 HG04204.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18957.hp1 NA18961.hp2 NA18962.hp1 NA18968.hp2 NA18978.hp2 NA18980.hp1 NA18982.hp2 NA18984.hp2 NA18988.hp2 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19030.hp2 NA19054.hp2 NA19064.hp2 NA19079.hp2 NA19083.hp1 NA19084.hp2 NA19090.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0004c0006t0001 a0001c0001t0001 a0001c0001t0002 a0004c0006t0001	a0001c0001t0001g0074 a0001c0001t0001g0143 a0001c0001t0001g0162 others(46): Show a0001c0001t0001g0074 a0001c0001t0001g0143 a0001c0001t0001g0162 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0212 a0001c0001t0001g0256 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0298 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0065 a0001c0001t0002g0067 a0004c0006t0001g0085 a0004c0006t0001g0086 a0004c0006t0001g0088 a0004c0006t0001g0089	49	324	0.1512	18	c.11 others(29): Show c.1114_*1115insCTCTTCTTCTTCTTCTTC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		876		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848546	A A	AAGAAGAA others(11): Show AAGAAGAAGAAGAAGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG03195.hp1 NA18943.hp1 others(5): Show HG02132.hp1 HG03195.hp1 NA18943.hp1 NA18948.hp1 NA18975.hp1 NA19000.hp2 NA19009.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0013t0002 a0001c0001t0001 a0001c0001t0002 a0001c0013t0002	a0001c0001t0001g0093 a0001c0001t0001g0118 a0001c0001t0001g0192 others(5): Show a0001c0001t0001g0093 a0001c0001t0001g0118 a0001c0001t0001g0192 a0001c0001t0001g0210 a0001c0001t0002g0043 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0013t0002g0057	8	324	0.0247	18	c.93 others(27): Show c.938_*939insGCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		700		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848555	G G	GAGAAGAA others(11): Show GAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02809.hp1 HG02965.hp2 others(1): Show HG02257.hp2 HG02809.hp1 HG02965.hp2 HG03209.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0255 a0005c0007t0001g0301 a0005c0007t0001g0302 others(1): Show a0001c0001t0001g0255 a0005c0007t0001g0301 a0005c0007t0001g0302 a0005c0007t0001g0303	4	324	0.0124	18	c.92 others(27): Show c.929_*930insTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		691		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13983023	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01361.hp2 HG02040.hp2 others(7): Show HG01071.hp1 HG01361.hp2 HG02040.hp2 HG02055.hp2 HG02155.hp2 HG02647.hp1 HG03139.hp2 HG03540.hp1 HG03927.hp2 NA18990.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0003 a0001c0001t0001 a0001c0001t0005 a0002c0002t0003	a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0152 others(7): Show a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0316 a0001c0001t0005g0320 a0002c0002t0003g0280	10	324	0.0309	18	c.58+ others(33): Show c.58+7436_58+7453dupTTTTTTTTTTTTTTTTTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	1/19			chr20	TogoVar
SEL1L_chr14_81466547_81538853	81510514	C C	CTCTCTAT others(11): Show CTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	360	0.0028	18	c.341 others(35): Show c.341-4274_341-4273insTATATATATATATAGAGA	SEL1L	ENSG00000071537.14	transcript	ENST00000336735.9	protein_coding	3/20			chr14	TogoVar
SEL1L_chr14_81466547_81538853	81510514	C C	CTCTCTCT others(11): Show CTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02895.hp2 NA18952.hp1 others(1): Show HG01346.hp2 HG02895.hp2 NA18952.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0003t0011 a0001c0004t0016 others(1): Show a0001c0001t0001 a0001c0003t0011 a0001c0004t0016 a0001c0009t0001	a0001c0001t0001g0184 a0001c0003t0011g0050 a0001c0004t0016g0317 others(1): Show a0001c0001t0001g0184 a0001c0003t0011g0050 a0001c0004t0016g0317 a0001c0009t0001g0297	4	360	0.0111	18	c.341 others(35): Show c.341-4274_341-4273insTATATATATATAGAGAGA	SEL1L	ENSG00000071537.14	transcript	ENST00000336735.9	protein_coding	3/20			chr14	TogoVar
SEL1L_chr14_81466547_81538853	81510514	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA18906.hp1 HG01256.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0020 a0001c0001t0001 a0001c0003t0020	a0001c0001t0001g0156 a0001c0003t0020g0048 a0001c0001t0001g0156 a0001c0003t0020g0048	2	360	0.0056	18	c.341 others(35): Show c.341-4274_341-4273insTATATATAGAGAGAGAGA	SEL1L	ENSG00000071537.14	transcript	ENST00000336735.9	protein_coding	3/20			chr14	TogoVar
SEL1L_chr14_81466547_81538853	81510514	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	360	0.0028	18	c.341 others(35): Show c.341-4274_341-4273insTAGAGAGAGAGAGAGAGA	SEL1L	ENSG00000071537.14	transcript	ENST00000336735.9	protein_coding	3/20			chr14	TogoVar
SELENBP1_chr1_151359304_151377705	151360296	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG01496.hp1 others(14): Show HG00597.hp1 HG00609.hp2 HG01496.hp1 HG01516.hp1 HG02056.hp2 HG02080.hp1 HG02135.hp1 NA18961.hp2 NA18970.hp2 NA18972.hp2 NA18982.hp1 NA19011.hp2 NA19064.hp1 NA19070.hp2 NA19072.hp1 NA19081.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0058 a0001c0001t0001g0094 a0001c0001t0001g0198	17	438	0.0388	18	c.42 others(29): Show c.4246_*4247insAAAAAAAAAAAAAAAAAA	SELENBP1	ENSG00000143416.21	transcript	ENST00000368868.10	protein_coding		4007		chr1	TogoVar
SELENBP1_chr1_151359304_151377705	151367355	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18947.hp1 NA18953.hp2 others(5): Show HG02293.hp1 NA18947.hp1 NA18953.hp2 NA18977.hp2 NA18979.hp1 NA18994.hp2 NA19005.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0090 a0001c0001t0001g0112 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0090 a0001c0001t0001g0112 a0001c0001t0001g0193 a0001c0001t0001g0224	8	438	0.0183	18	c.482 others(33): Show c.482-452_482-451insCTTTTCTTTTTTTTTTTT	SELENBP1	ENSG00000143416.21	transcript	ENST00000368868.10	protein_coding	5/11			chr1	TogoVar
SELENOI_chr2_26341143_26400885	26381198	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01891.hp2 HG01069.hp1 HG01071.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0024 a0001c0001t0010g0257 a0001c0001t0010g0024 a0001c0001t0010g0257	3	334	0.0090	18	c.683 others(35): Show c.683-2087_683-2070dupTTTTTTTTTTTTTTTTTT	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SELENOM_chr22_31099777_31112568	31107583	G G	GCCCCGCC others(11): Show GCCCCGCCCCCGCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(16): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG01975.hp1 HG01981.hp1 HG02300.hp2 HG02486.hp1 HG02717.hp1 NA18956.hp1 NA18967.hp2 NA18977.hp2 NA19058.hp2 NA19063.hp2 NA19081.hp2 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0013	19	378	0.0503	18	c.-96 others(25): Show c.-96_-79dupGCGGGGGCGGGGGCGGGG	SELENOM	ENSG00000198832.11	transcript	ENST00000400299.6	protein_coding		16		chr22	TogoVar
SELENOM_chr22_31099777_31112568	31107602	C C	CCCCGCCC others(11): Show CCCCGCCCCCGCCCCCACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	378	0.0027	18	c.-98 others(25): Show c.-98_-97insAGTGGGGGCGGGGGCGGG	SELENOM	ENSG00000198832.11	transcript	ENST00000400299.6	protein_coding		35		chr22	TogoVar
SELENON_chr1_25795193_25823221	25819429	T T	TGTGAGAG others(11): Show TGTGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03579.hp1 HG03225.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0028 a0001c0004t0001 a0001c0004t0028	a0001c0004t0001g0036 a0001c0004t0028g0179 a0001c0004t0001g0036 a0001c0004t0028g0179	2	392	0.0051	18	c.37 others(29): Show c.3711_*3712insGTGAGAGAGAGAGAGAGA	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding		1209	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr1	TogoVar
SELENOO_chr22_50196011_50222616	50199497	T T	TTGAATCA others(11): Show TTGAATCAAATCAGGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	438	0.0023	18	c.-15 others(29): Show c.-1540_-1539insTGAATCAAATCAGGTGTG	SELENOO	ENSG00000073169.15	transcript	ENST00000380903.7	protein_coding		1513		chr22	TogoVar
SELENOT_chr3_150598321_150635436	150611004	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	380	0.0026	18	c.137 others(35): Show c.137+7520_137+7537dupGTGTGTGTGTGTGTGTGT	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SELENOT_chr3_150598321_150635436	150631202	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01993.hp1 HG03710.hp1 others(10): Show HG01074.hp2 HG01993.hp1 HG03710.hp1 NA18948.hp1 NA18961.hp2 NA18962.hp2 NA18971.hp1 NA18984.hp1 NA18998.hp1 NA19005.hp1 NA19060.hp2 NA19077.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0009 others(6): Show a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0022 a0001c0001t0002g0151 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0188 a0001c0001t0002g0214	13	380	0.0342	18	c.35 others(29): Show c.3573_*3574insAAAAAAAAAAAAAAAAAA	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding		767		chr3	TogoVar
SELENOV_chr19_39510139_39525675	39517964	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	436	0.0023	18	c.810 others(33): Show c.810-634_810-617dupAAAAAAAAAAAAAAAAAA	SELENOV	ENSG00000186838.15	transcript	ENST00000335426.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
SELENOV_chr19_39510139_39525675	39517991	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	436	0.0023	18	c.810 others(33): Show c.810-617_810-616insAAAAAAAAAAAAAAAAAG	SELENOV	ENSG00000186838.15	transcript	ENST00000335426.9	protein_coding	1/5			chr19	TogoVar
SEM1_chr7_96683762_96714846	96693760	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	354	0.0028	18	c.170 others(35): Show c.170+1020_170+1037dupCACACACACACACACACA	SEM1	ENSG00000127922.10	transcript	ENST00000248566.4	protein_coding	2/2			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965666	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0002 a0001c0005t0001g0002	1	276	0.0036	18	c.171 others(37): Show c.1718-2320_1718-2319insAATATATATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965666	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	276	0.0036	18	c.171 others(37): Show c.1718-2320_1718-2319insAAAAAATATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83980603	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAACAA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG04204.hp1 HG03927.hp1 HG04204.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0036 a0001c0005t0004g0037 a0001c0005t0004g0036 a0001c0005t0004g0037	2	276	0.0073	18	c.165 others(35): Show c.1652+717_1652+718insTTGTTTTTTTTTTTTTTT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	14/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84046597	A A	ATCCTTAT others(11): Show ATCCTTATTGAAGGATATG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02897.hp1 HG02145.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0024 a0001c0007t0001 a0001c0001t0024 a0001c0007t0001	a0001c0001t0024g0212 a0001c0007t0001g0078 a0001c0001t0024g0212 a0001c0007t0001g0078	2	276	0.0073	18	c.548 others(33): Show c.548-172_548-155dupCATATCCTTCAATAAGGA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	5/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84095358	C C	CACATATA others(11): Show CACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02886.hp2 others(7): Show HG01891.hp2 HG02145.hp1 HG02886.hp2 HG03225.hp1 HG03491.hp1 HG03492.hp1 HG04115.hp2 NA18747.hp1 NA18973.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0004 a0001c0001t0022 a0001c0003t0006 others(6): Show a0001c0001t0004 a0001c0001t0022 a0001c0003t0006 a0001c0003t0008 a0001c0004t0005 a0001c0004t0006 a0001c0004t0008 a0001c0004t0015 a0001c0005t0003	a0001c0001t0004g0224 a0001c0001t0022g0225 a0001c0003t0006g0246 others(7): Show a0001c0001t0004g0224 a0001c0001t0022g0225 a0001c0003t0006g0246 a0001c0003t0008g0076 a0001c0004t0005g0113 a0001c0004t0005g0119 a0001c0004t0006g0211 a0001c0004t0008g0247 a0001c0004t0015g0082 a0001c0005t0003g0141	10	276	0.0362	18	c.453 others(37): Show c.453+15111_453+15112insATATATATATATATATGT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84095358	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0010 a0002c0006t0010	a0002c0006t0010g0005 a0002c0006t0010g0005	1	276	0.0036	18	c.453 others(37): Show c.453+15094_453+15111dupATATATATATATATATAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84195018	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 NA18522.hp1 HG04184.hp2 NA18522.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0002 a0001c0005t0001g0159 a0001c0005t0001g0002 a0001c0005t0001g0159	2	276	0.0073	18	c.-43 others(27): Show c.-433_-432insTTCTCTCTCTCTCTCTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding		230		chr7	TogoVar
SEMA3B_chr3_50264147_50282546	50272855	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp1 HG01071.hp1 others(28): Show HG00323.hp2 HG00609.hp1 HG01071.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG02027.hp1 HG02027.hp2 HG02145.hp1 HG02155.hp1 HG02451.hp1 HG02615.hp2 HG02809.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03139.hp1 HG03927.hp2 NA18906.hp1 NA18952.hp2 NA18967.hp2 NA18977.hp1 NA19060.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0013 a0002c0002 others(1): Show a0001c0001 a0001c0013 a0002c0002 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 a0002c0002t0001 a0003c0007t0001	a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0030 others(9): Show a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0002g0013 a0001c0013t0001g0018 a0002c0002t0001g0021 a0003c0007t0001g0009	31	390	0.0795	18	c.665 others(33): Show c.665-434_665-417dupTAATAATAATAATAATAA	SEMA3B	ENSG00000012171.20	transcript	ENST00000616701.5	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEMA3B_chr3_50264147_50282546	50272879	T T	TAATAATA others(11): Show TAATAATAATAATAATAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02273.hp2 HG02293.hp2 others(8): Show HG01981.hp1 HG02273.hp2 HG02293.hp2 NA18940.hp2 NA18942.hp1 NA18947.hp1 NA18969.hp1 NA18974.hp1 NA18981.hp1 NA19012.hp1 NA19080.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0015 a0002c0002 a0008c0015	a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 others(1): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0008c0015t0001	a0002c0002t0001g0010 a0002c0002t0001g0075 a0002c0002t0001g0076 others(3): Show a0002c0002t0001g0010 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0003g0010 a0002c0002t0005g0010 a0008c0015t0001g0081	11	390	0.0282	18	c.665 others(33): Show c.665-417_665-416insTAATAATAATAATAAAAA	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(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG00741.hp1 others(8): Show HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01099.hp1 HG02109.hp2 HG02129.hp1 HG02615.hp1 HG03041.hp2 HG03471.hp1 HG04228.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 a0001c0004t0001 a0001c0012t0001	a0001c0001t0001g0128 a0001c0001t0001g0169 a0001c0001t0001g0240 others(8): Show a0001c0001t0001g0128 a0001c0001t0001g0169 a0001c0001t0001g0240 a0001c0001t0002g0097 a0001c0002t0001g0069 a0001c0002t0001g0217 a0001c0002t0001g0228 a0001c0003t0002g0034 a0001c0004t0001g0065 a0001c0004t0001g0158 a0001c0012t0001g0194	11	244	0.0451	18	c.184 others(37): Show c.1843-1429_1843-1412dupACACACACACACACACAC	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	17/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80750473	T T	TATATATA others(11): Show TATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01261.hp1 HG01168.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0019 a0001c0004t0001g0234 a0001c0001t0001g0019 a0001c0004t0001g0234	2	244	0.0082	18	c.171 others(35): Show c.1711+795_1711+796insGTGTGTGTGTGTATATAT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	16/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80750473	T T	TATATATA others(11): Show TATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0009 a0001c0004t0001g0009	1	244	0.0041	18	c.171 others(35): Show c.1711+795_1711+796insGTGTGTGTATATATATAT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	16/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80815554	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01257.hp2 HG01258.hp1 others(4): Show HG00280.hp1 HG01257.hp2 HG01258.hp1 HG02129.hp2 HG02280.hp1 NA19057.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0012 a0001c0017 others(1): Show a0001c0002 a0001c0012 a0001c0017 a0002c0005	a0001c0002t0001 a0001c0012t0001 a0001c0017t0003 others(1): Show a0001c0002t0001 a0001c0012t0001 a0001c0017t0003 a0002c0005t0001	a0001c0002t0001g0188 a0001c0012t0001g0039 a0001c0012t0001g0040 others(4): Show a0001c0002t0001g0188 a0001c0012t0001g0039 a0001c0012t0001g0040 a0001c0012t0001g0132 a0001c0017t0003g0093 a0002c0005t0001g0109 a0002c0005t0001g0110	7	244	0.0287	18	c.447 others(35): Show c.447+2727_447+2744dupTTTTTTTTTTTTTTTTTT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	5/17			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85056890	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0198 a0002c0002t0017g0198	1	266	0.0038	18	c.719 others(35): Show c.719-1049_719-1032dupATATATATATATATATAT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	8/18			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85066892	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA21309.hp2 HG01081.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0059 a0001c0001t0005g0006 a0001c0001t0001g0059 a0001c0001t0005g0006	2	266	0.0075	18	c.589 others(35): Show c.589+1281_589+1298dupTGTGTGTGTGTGTGTGTG	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	7/18			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85066913	C C	CACACACA others(11): Show CACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02723.hp1 NA19240.hp1 HG02559.hp1 HG02723.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0031 a0001c0004t0001 a0001c0004t0002 a0001c0004t0031	a0001c0004t0001g0048 a0001c0004t0002g0244 a0001c0004t0031g0152 a0001c0004t0001g0048 a0001c0004t0002g0244 a0001c0004t0031g0152	3	266	0.0113	18	c.589 others(35): Show c.589+1277_589+1278insCTGTGTGTGTGTGTGTGT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	7/18			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85066913	C C	CATACACA others(11): Show CATACACACACAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG02723.hp2 others(4): Show HG02145.hp1 HG02451.hp2 HG02723.hp2 HG02970.hp1 HG02976.hp1 HG03139.hp1 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0047 a0001c0001t0001 a0001c0001t0005 a0002c0002t0047	a0001c0001t0001g0130 a0001c0001t0001g0146 a0001c0001t0005g0124 others(4): Show a0001c0001t0001g0130 a0001c0001t0001g0146 a0001c0001t0005g0124 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0005g0131 a0002c0002t0047g0265	7	266	0.0263	18	c.589 others(35): Show c.589+1277_589+1278insCTCTCTCTGTGTGTGTAT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	7/18			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83539855	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02257.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0002t0001 a0001c0001t0019 a0001c0002t0001	a0001c0001t0019g0166 a0001c0002t0001g0144 a0001c0001t0019g0166 a0001c0002t0001g0144	2	226	0.0089	18	c.116 others(37): Show c.116-49599_116-49582dupCACACACACACACACACA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar

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