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
SEH1L_chr18_12943011_12992531	12958064	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00544.hp2 others(92): Show HG00280.hp1 HG00408.hp2 HG00544.hp2 HG00673.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01261.hp2 HG01516.hp1 HG01891.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03491.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG06807.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18950.hp2 NA18956.hp2 NA18959.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18993.hp1 NA18995.hp1 NA18999.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19056.hp2 NA19057.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp2 NA19079.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 others(90): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0096 a0001c0001t0001g0132 a0001c0001t0001g0199 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0381 a0001c0001t0003g0318 a0001c0001t0005g0309 a0001c0001t0007g0273 a0002c0002t0001g0232 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264	95	388	0.2449	-13	c.309 others(30): Show c.309+2480_309+2492delTTTTTTTTTTTTT	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEL1L2_chr20_13844247_13995614	13850465	CAAATGAA others(6): Show CAAATGAACCTTTA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	324	0.0031	-13	c.181 others(30): Show c.1819-159_1819-147delTAAAGGTTCATTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	18/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13872249	GTTTAGAT others(6): Show GTTTAGATGTCATC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03041.hp1 HG02809.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0255 a0001c0001t0001g0238 a0001c0001t0001g0255	2	324	0.0062	-13	c.110 others(32): Show c.1105-2059_1105-2047delGATGACATCTAAA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	12/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13888809	TTTTTTTT others(6): Show TTTTTTTTTTTGTA	T T	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18952.hp2 NA19009.hp1 others(1): Show NA18943.hp1 NA18952.hp2 NA19009.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0043 others(1): Show a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0043 a0001c0001t0002g0054	4	324	0.0124	-13	c.550 others(28): Show c.550-310_550-298delTACAAAAAAAAAA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	5/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13908970	TTATTGTT others(6): Show TTATTGTTAAATAG	T T	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	324	0.0031	-13	c.549 others(30): Show c.549+4799_549+4811delCTATTTAACAATA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	5/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13909505	GCCGGGAG others(6): Show GCCGGGAGCAGGAT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02071.hp2 HG02523.hp2 others(5): Show HG00544.hp1 HG02071.hp2 HG02523.hp2 NA18747.hp1 NA18984.hp1 NA19004.hp2 NA19012.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(5): Show a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0179 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0293	8	324	0.0247	-13	c.549 others(30): Show c.549+4264_549+4276delATCCTGCTCCCGG	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	5/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934375	TATATATA others(6): Show TATATATATATTCC	T T	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18977.hp1 NA18943.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0226 a0001c0001t0001g0232	2	324	0.0062	-13	c.115 others(30): Show c.115-2617_115-2605delGGAATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934390	TATATATA others(6): Show TATATATATATTCC	T T	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	324	0.0031	-13	c.115 others(30): Show c.115-2632_115-2620delGGAATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934405	TATATATA others(6): Show TATATATATATTCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03195.hp2 HG03834.hp2 others(2): Show HG00438.hp2 HG03195.hp2 HG03834.hp2 HG03927.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0154 a0001c0001t0001g0212 a0001c0001t0001g0267 others(2): Show a0001c0001t0001g0154 a0001c0001t0001g0212 a0001c0001t0001g0267 a0001c0001t0001g0281 a0002c0002t0003g0260	5	324	0.0154	-13	c.115 others(30): Show c.115-2647_115-2635delGGAATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L3_chr4_25742433_25867988	25750234	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG01074.hp2 others(69): Show HG00597.hp2 HG00609.hp1 HG01074.hp2 HG01106.hp2 HG01169.hp1 HG01256.hp2 HG01257.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG02004.hp1 HG02040.hp1 HG02132.hp2 HG02135.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02559.hp1 HG02615.hp1 HG02698.hp2 HG02738.hp2 HG02818.hp1 HG02976.hp2 HG03017.hp1 HG03139.hp1 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18948.hp2 NA18950.hp2 NA18955.hp1 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18970.hp2 NA18971.hp2 NA18977.hp2 NA18985.hp1 NA18993.hp1 NA18993.hp2 NA19000.hp2 NA19005.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp1 NA19081.hp2 NA19082.hp1 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1	a0001 a0002 a0018 others(2): Show a0001 a0002 a0018 a0019 a0020	a0001c0001 a0001c0003 a0001c0036 others(4): Show a0001c0001 a0001c0003 a0001c0036 a0002c0002 a0018c0026 a0019c0032 a0020c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0003t0002 a0001c0036t0002 a0002c0002t0002 a0018c0026t0002 a0019c0032t0001 a0020c0037t0001	a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0036 others(69): Show a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0175 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0225 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0254 a0001c0001t0001g0292 a0001c0001t0002g0006 a0001c0001t0002g0020 a0001c0001t0002g0031 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0076 a0001c0001t0002g0083 a0001c0001t0002g0105 a0001c0001t0002g0131 a0001c0001t0002g0147 a0001c0001t0002g0163 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0190 a0001c0001t0002g0200 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0214 a0001c0001t0002g0222 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0272 a0001c0001t0002g0297 a0001c0001t0003g0033 a0001c0001t0003g0093 a0001c0001t0003g0194 a0001c0001t0003g0273 a0001c0001t0005g0063 a0001c0001t0005g0209 a0001c0001t0005g0223 a0001c0001t0016g0091 a0001c0003t0002g0024 a0001c0003t0002g0025 a0001c0003t0002g0049 a0001c0036t0002g0137 a0002c0002t0002g0277 a0002c0002t0002g0281 a0002c0002t0002g0282 a0018c0026t0002g0094 a0019c0032t0001g0045 a0020c0037t0001g0255	72	312	0.2308	-13	c.326 others(32): Show c.3260-1683_3260-1671delTTTTTTTTTTTTT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	23/23			chr4	TogoVar
SELENOI_chr2_26341143_26400885	26398037	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0105 a0001c0001t0003g0105	1	334	0.0030	-13	c.89 others(24): Show c.8935_*8947delTTTTTTTTTTTTT	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding		2153		chr2	TogoVar
SELENON_chr1_25795193_25823221	25817943	GCCTCCCC others(6): Show GCCTCCCCCCCCAT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG01891.hp2 HG00639.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0166 a0001c0003t0013g0170 a0001c0003t0013g0166 a0001c0003t0013g0170	2	392	0.0051	-13	c.22 others(24): Show c.2229_*2241delCCCCCCCCATCCT	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding	13/13	2229	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS&INFO_REALIGN_3_PRIME	chr1	TogoVar
SELENOO_chr22_50196011_50222616	50222588	CCTGCCTG others(6): Show CCTGCCTGAAGCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	438	0.0023	-13	c.52 others(24): Show c.5220_*5232delCTGCCTGAAGCCA	SELENOO	ENSG00000073169.15	transcript	ENST00000380903.7	protein_coding		4973		chr22	TogoVar
SELENOS_chr15_101267191_101282485	101269193	CAGGGGTT others(6): Show CAGGGGTTTCAGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0011 a0007c0006t0011	a0007c0006t0011g0071 a0007c0006t0011g0071	1	448	0.0022	-13	c.35 others(24): Show c.3565_*3577delTCCTGAAACCCCT	SELENOS	ENSG00000131871.15	transcript	ENST00000526049.6	protein_coding		2997		chr15	TogoVar
SELENOT_chr3_150598321_150635436	150602830	TGGAATTG others(6): Show TGGAATTGTCCAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0137 a0001c0001t0004g0137	1	380	0.0026	-13	c.-53 others(22): Show c.-532_-520delGGAATTGTCCAAA	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding		490		chr3	TogoVar
SELENOT_chr3_150598321_150635436	150617714	ATATAATA others(6): Show ATATAATATAGTTC	A A	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	380	0.0026	-13	c.138 others(30): Show c.138-4670_138-4658delTATAATATAGTTC	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding	1/5			chr3	TogoVar
SELENOT_chr3_150598321_150635436	150633350	GTTATATA others(6): Show GTTATATAGCTTAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	380	0.0026	-13	c.57 others(24): Show c.5722_*5734delTTATATAGCTTAT	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding		2915		chr3	TogoVar
SELENOV_chr19_39510139_39525675	39510557	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0043 a0001c0002t0002g0043	1	436	0.0023	-13	c.-46 others(24): Show c.-4655_-4643delTTTTTTTTTTTTT	SELENOV	ENSG00000186838.15	transcript	ENST00000335426.9	protein_coding		4581		chr19	TogoVar
SELENOW_chr19_47773703_47789682	47776208	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00741.hp2 others(8): Show HG00099.hp1 HG00280.hp2 HG00741.hp2 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG02683.hp2 HG03669.hp1 HG03831.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0046 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0066	11	406	0.0271	-13	c.-25 others(24): Show c.-2577_-2565delTTTTTTTTTTTTT	SELENOW	ENSG00000178980.16	transcript	ENST00000601048.6	protein_coding		2494		chr19	TogoVar
SELPLG_chr12_108616895_108638894	108622379	AGGCGATA others(6): Show AGGCGATAGCTGGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG01891.hp2 HG02055.hp1 others(17): Show HG01167.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02280.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG03041.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp2 NA18522.hp2 NA19030.hp1 NA20129.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0001c0001t0012 a0003c0003t0004 a0001c0001t0004 a0001c0001t0012 a0003c0003t0004	a0001c0001t0004g0300 a0001c0001t0004g0326 a0001c0001t0004g0332 others(11): Show a0001c0001t0004g0300 a0001c0001t0004g0326 a0001c0001t0004g0332 a0001c0001t0012g0303 a0003c0003t0004g0006 a0003c0003t0004g0012 a0003c0003t0004g0074 a0003c0003t0004g0086 a0003c0003t0004g0098 a0003c0003t0004g0110 a0003c0003t0004g0115 a0003c0003t0004g0116 a0003c0003t0004g0227 a0003c0003t0004g0308	20	486	0.0412	-13	c.67 others(22): Show c.677_*689delCCCAGCTATCGCC	SELPLG	ENSG00000110876.10	transcript	ENST00000550948.2	protein_coding	2/2	677		chr12	TogoVar
SELPLG_chr12_108616895_108638894	108626997	GGGAGGCC others(6): Show GGGAGGCCAAGGCA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0332 a0001c0001t0004g0332	1	486	0.0021	-13	c.-5- others(28): Show c.-5-2698_-5-2686delTGCCTTGGCCTCC	SELPLG	ENSG00000110876.10	transcript	ENST00000550948.2	protein_coding	1/1			chr12	TogoVar
SEMA3A_chr7_83950777_84199789	83965649	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0157 a0001c0004t0008g0157	1	276	0.0036	-13	c.171 others(32): Show c.1718-2315_1718-2303delTATATATATATAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965651	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0186 a0001c0001t0007g0186	1	276	0.0036	-13	c.171 others(32): Show c.1718-2317_1718-2305delTATATATATATAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965654	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp2 HG01243.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0008 a0001c0001t0007 a0001c0003t0008	a0001c0001t0007g0158 a0001c0003t0008g0068 a0001c0001t0007g0158 a0001c0003t0008g0068	2	276	0.0073	-13	c.171 others(32): Show c.1718-2320_1718-2308delATATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091209	AAAGAAAA others(6): Show AAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0008	a0001c0008t0008g0085 a0001c0008t0008g0085	1	276	0.0036	-13	c.453 others(32): Show c.453+19248_453+19260delCTTTTCTTTTCTT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84148016	TCTCATGC others(6): Show TCTCATGCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0211 a0001c0004t0006g0211	1	276	0.0036	-13	c.113 others(32): Show c.113-13078_113-13066delGCCGAGGCATGAG	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	1/16			chr7	TogoVar
SEMA3B_chr3_50264147_50282546	50277546	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	390	0.0026	-13	c.84 others(22): Show c.841_*853delAAAAAAAAAAAAA	SEMA3B	ENSG00000012171.20	transcript	ENST00000616701.5	protein_coding		1		chr3	TogoVar
SEMA3C_chr7_80737538_80924051	80812961	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19087.hp2 NA19057.hp1 NA19087.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0109 a0002c0005t0001g0110 a0002c0005t0001g0109 a0002c0005t0001g0110	2	244	0.0082	-13	c.448 others(30): Show c.448-2273_448-2261delAAAAAAAAAAAAA	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	5/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80822403	AAATAAAT others(6): Show AAATAAATAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG04199.hp2 HG03017.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0226 a0001c0002t0001g0025 a0001c0001t0001g0226 a0001c0002t0001g0025	2	244	0.0082	-13	c.328 others(30): Show c.328-3998_328-3986delATTTTTATTTATT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	4/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80851504	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	244	0.0041	-13	c.104 others(32): Show c.104-22772_104-22760delTTTTTTTTTTTTT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80919564	TTTTTTGT others(6): Show TTTTTTGTTTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	244	0.0041	-13	c.-78 others(22): Show c.-788_-776delCAAAAAACAAAAA	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding		514		chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83363860	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01928.hp1 HG01978.hp1 HG02148.hp1 others(3): Show HG01928.hp1 HG01978.hp1 HG02148.hp1 HG02148.hp2 HG03239.hp2 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0004 a0001c0002 a0001c0003 a0002c0004	a0001c0002t0072 a0001c0003t0020 a0001c0003t0048 others(1): Show a0001c0002t0072 a0001c0003t0020 a0001c0003t0048 a0002c0004t0049	a0001c0002t0072g0083 a0001c0003t0020g0075 a0001c0003t0020g0081 others(3): Show a0001c0002t0072g0083 a0001c0003t0020g0075 a0001c0003t0020g0081 a0001c0003t0020g0121 a0001c0003t0048g0031 a0002c0004t0049g0015	6	226	0.0266	-13	c.37 others(24): Show c.3713_*3725delAAAAAAAAAAAAA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	17/17	3713		chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83434709	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp1 HG01071.hp1 others(37): Show HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01167.hp1 HG01168.hp1 HG01243.hp2 HG01261.hp1 HG01515.hp1 HG01934.hp2 HG02083.hp2 HG02109.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03688.hp1 HG03831.hp1 HG04115.hp2 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0008 others(3): Show a0001c0001 a0001c0006 a0001c0008 a0002c0012 a0003c0007 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0041 a0001c0001t0046 a0001c0001t0051 a0001c0001t0052 a0001c0001t0064 a0001c0001t0067 a0001c0001t0075 a0001c0001t0093 a0001c0001t0098 a0001c0006t0042 a0001c0006t0043 a0001c0006t0047 a0001c0006t0053 a0001c0006t0055 a0001c0006t0094 a0001c0008t0015 a0001c0008t0054 a0001c0008t0065 a0002c0012t0068 a0003c0007t0017 a0003c0007t0025 a0003c0007t0036 a0003c0009t0092	a0001c0001t0001g0088 a0001c0001t0001g0135 a0001c0001t0001g0138 others(37): Show a0001c0001t0001g0088 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0002g0147 a0001c0001t0003g0130 a0001c0001t0003g0137 a0001c0001t0004g0182 a0001c0001t0005g0032 a0001c0001t0008g0142 a0001c0001t0022g0177 a0001c0001t0029g0113 a0001c0001t0029g0172 a0001c0001t0030g0141 a0001c0001t0030g0143 a0001c0001t0031g0192 a0001c0001t0041g0009 a0001c0001t0046g0034 a0001c0001t0051g0046 a0001c0001t0052g0050 a0001c0001t0064g0064 a0001c0001t0067g0066 a0001c0001t0075g0148 a0001c0001t0093g0183 a0001c0001t0098g0215 a0001c0006t0042g0010 a0001c0006t0043g0011 a0001c0006t0047g0040 a0001c0006t0053g0047 a0001c0006t0055g0056 a0001c0006t0094g0174 a0001c0008t0015g0185 a0001c0008t0054g0051 a0001c0008t0065g0071 a0002c0012t0068g0068 a0003c0007t0017g0041 a0003c0007t0025g0029 a0003c0007t0025g0037 a0003c0007t0036g0007 a0003c0009t0092g0175	40	226	0.1770	-13	c.457 others(32): Show c.457-16239_457-16227delAAAAAAAAAAAAA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	4/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83560724	CCTTTAAA others(6): Show CCTTTAAAAATAGT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01884.hp1 HG01891.hp1 others(7): Show HG01070.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02630.hp2 HG02895.hp1 HG02897.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0003c0007 a0003c0009	a0001c0001t0024 a0001c0001t0035 a0001c0001t0037 others(6): Show a0001c0001t0024 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0002t0040 a0001c0005t0039 a0001c0008t0015 a0003c0007t0036 a0003c0009t0066	a0001c0001t0024g0004 a0001c0001t0024g0005 a0001c0001t0035g0001 others(7): Show a0001c0001t0024g0004 a0001c0001t0024g0005 a0001c0001t0035g0001 a0001c0001t0037g0003 a0001c0001t0038g0006 a0001c0002t0040g0008 a0001c0005t0039g0002 a0001c0008t0015g0185 a0003c0007t0036g0007 a0003c0009t0066g0067	10	226	0.0443	-13	c.116 others(32): Show c.116-70463_116-70451delACTATTTTTAAAG	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83600486	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0065 a0001c0008t0065	a0001c0008t0065g0071 a0001c0008t0065g0071	1	226	0.0044	-13	c.115 others(32): Show c.115+47929_115+47941delAAAAAAAAAAAAA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83622268	AACCATAA others(6): Show AACCATAATGAGAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp2 HG00738.hp2 others(32): Show HG00438.hp1 HG00609.hp2 HG00738.hp2 HG01167.hp1 HG01168.hp2 HG01261.hp2 HG01496.hp2 HG01978.hp1 HG01993.hp1 HG02027.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02300.hp1 HG02622.hp1 HG02630.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG03139.hp1 HG03239.hp2 HG03453.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp2 NA18939.hp2 NA18983.hp1 NA18984.hp1 NA19030.hp1 NA19054.hp1 NA19058.hp1 NA19240.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0015 a0002c0004 a0003c0007 a0004c0016 a0005c0013	a0001c0001t0005 a0001c0001t0017 a0001c0001t0046 others(25): Show a0001c0001t0005 a0001c0001t0017 a0001c0001t0046 a0001c0002t0001 a0001c0002t0005 a0001c0002t0011 a0001c0002t0026 a0001c0002t0027 a0001c0002t0044 a0001c0002t0045 a0001c0002t0050 a0001c0002t0084 a0001c0003t0027 a0001c0003t0048 a0001c0006t0042 a0001c0006t0043 a0001c0006t0047 a0001c0015t0005 a0002c0004t0003 a0002c0004t0005 a0002c0004t0012 a0002c0004t0049 a0002c0004t0074 a0002c0004t0085 a0003c0007t0017 a0003c0007t0025 a0004c0016t0005 a0005c0013t0012	a0001c0001t0005g0032 a0001c0001t0017g0012 a0001c0001t0046g0034 others(32): Show a0001c0001t0005g0032 a0001c0001t0017g0012 a0001c0001t0046g0034 a0001c0002t0001g0159 a0001c0002t0005g0021 a0001c0002t0005g0030 a0001c0002t0011g0017 a0001c0002t0011g0018 a0001c0002t0011g0024 a0001c0002t0011g0038 a0001c0002t0026g0019 a0001c0002t0026g0035 a0001c0002t0027g0014 a0001c0002t0044g0013 a0001c0002t0045g0026 a0001c0002t0050g0020 a0001c0002t0084g0161 a0001c0003t0027g0025 a0001c0003t0048g0031 a0001c0006t0042g0010 a0001c0006t0043g0011 a0001c0006t0047g0040 a0001c0015t0005g0027 a0002c0004t0003g0160 a0002c0004t0005g0033 a0002c0004t0012g0036 a0002c0004t0012g0039 a0002c0004t0049g0015 a0002c0004t0074g0162 a0002c0004t0085g0095 a0003c0007t0017g0041 a0003c0007t0025g0029 a0003c0007t0025g0037 a0004c0016t0005g0022 a0005c0013t0012g0023	35	226	0.1549	-13	c.115 others(32): Show c.115+26147_115+26159delATCTCATTATGGT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89427685	GCCTACGG others(6): Show GCCTACGGGGCTAC	G G	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA19240.hp1 HG01943.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0011 a0001c0003t0001g0008 a0001c0003t0001g0011	2	370	0.0054	-13	c.-24 others(34): Show c.-243-21999_-243-21987delGTAGCCCCGTAGG	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89450660	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18612.hp1 HG02135.hp1 NA18612.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0046 a0001c0004t0004g0047 a0001c0004t0004g0046 a0001c0004t0004g0047	2	370	0.0054	-13	c.-24 others(32): Show c.-244+5215_-244+5227delTTTTTTTTTTTTT	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9131646	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19043.hp2 HG01243.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0003t0003 a0001c0001t0011 a0001c0003t0003	a0001c0001t0011g0028 a0001c0003t0003g0031 a0001c0001t0011g0028 a0001c0003t0003g0031	2	134	0.0149	-13	c.159 others(32): Show c.1599+4845_1599+4857delGTTTTTTTTTTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9355212	CAGCTTGC others(6): Show CAGCTTGCAGCTAT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0047 a0001c0003t0006g0047	1	134	0.0075	-13	c.125 others(32): Show c.125-17413_125-17401delATAGCTGCAAGCT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5B_chr3_122904082_123032763	122920406	CAAGCCAT others(6): Show CAAGCCATATGTGA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02055.hp2 HG02109.hp2 others(20): Show HG00639.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02572.hp1 HG02622.hp2 HG02717.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19240.hp1 NA20300.hp2	a0001 a0004 a0007 others(2): Show a0001 a0004 a0007 a0008 a0020	a0001c0004 a0001c0005 a0004c0026 others(3): Show a0001c0004 a0001c0005 a0004c0026 a0007c0030 a0008c0011 a0020c0020	a0001c0004t0006 a0001c0004t0009 a0001c0005t0003 others(5): Show a0001c0004t0006 a0001c0004t0009 a0001c0005t0003 a0001c0005t0024 a0004c0026t0006 a0007c0030t0011 a0008c0011t0003 a0020c0020t0003	a0001c0004t0006g0025 a0001c0004t0006g0048 a0001c0004t0006g0132 others(20): Show a0001c0004t0006g0025 a0001c0004t0006g0048 a0001c0004t0006g0132 a0001c0004t0006g0141 a0001c0004t0006g0175 a0001c0004t0009g0069 a0001c0004t0009g0138 a0001c0004t0009g0143 a0001c0004t0009g0194 a0001c0005t0003g0026 a0001c0005t0003g0038 a0001c0005t0003g0050 a0001c0005t0003g0171 a0001c0005t0003g0173 a0001c0005t0003g0179 a0001c0005t0003g0195 a0001c0005t0024g0136 a0004c0026t0006g0144 a0007c0030t0011g0145 a0008c0011t0003g0169 a0008c0011t0003g0181 a0008c0011t0003g0283 a0020c0020t0003g0029	23	290	0.0793	-13	c.168 others(32): Show c.1688+1496_1688+1508delTCACATATGGCTT	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	12/22			chr3	TogoVar
SEMA5B_chr3_122904082_123032763	122983716	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03209.hp2 HG03654.hp2 others(1): Show HG02738.hp1 HG03209.hp2 HG03654.hp2 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0033 others(1): Show a0001c0001 a0001c0005 a0001c0033 a0002c0002	a0001c0001t0001 a0001c0005t0003 a0001c0033t0001 others(1): Show a0001c0001t0001 a0001c0005t0003 a0001c0033t0001 a0002c0002t0001	a0001c0001t0001g0149 a0001c0005t0003g0179 a0001c0033t0001g0150 others(1): Show a0001c0001t0001g0149 a0001c0005t0003g0179 a0001c0033t0001g0150 a0002c0002t0001g0151	4	290	0.0138	-13	c.-38 others(32): Show c.-38-22428_-38-22416delTTTTTTTTTTTTT	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	1/22			chr3	TogoVar
SEMA5B_chr3_122904082_123032763	123016680	TCCTCCTG others(6): Show TCCTCCTGCCTCAG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0155 a0004c0006t0001g0155	1	290	0.0035	-13	c.-39 others(32): Show c.-39+10771_-39+10783delCTGAGGCAGGAGG	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	1/22			chr3	TogoVar
SEMA6A_chr5_116438555_116579823	116536866	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0281 a0001c0001t0023g0281	1	304	0.0033	-13	c.-38 others(32): Show c.-38-31897_-38-31885delTTTTTTTTTTTTT	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	1/18			chr5	TogoVar
SEMA6D_chr15_47712505_47779228	47720261	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02258.hp1 others(12): Show HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02615.hp2 HG02630.hp2 HG02895.hp2 HG02922.hp1 HG02970.hp1 HG03098.hp2 HG03225.hp2 HG03516.hp2 HG03579.hp2 HG06807.hp2 NA18906.hp2	a0003 a0005 a0003 a0005	a0003c0005 a0005c0012 a0003c0005 a0005c0012	a0003c0005t0010 a0003c0005t0033 a0003c0005t0038 others(3): Show a0003c0005t0010 a0003c0005t0033 a0003c0005t0038 a0003c0005t0068 a0003c0005t0080 a0005c0012t0063	a0003c0005t0010g0040 a0003c0005t0010g0315 a0003c0005t0010g0319 others(12): Show a0003c0005t0010g0040 a0003c0005t0010g0315 a0003c0005t0010g0319 a0003c0005t0010g0322 a0003c0005t0010g0323 a0003c0005t0010g0324 a0003c0005t0010g0332 a0003c0005t0010g0334 a0003c0005t0010g0335 a0003c0005t0033g0336 a0003c0005t0038g0205 a0003c0005t0038g0325 a0003c0005t0068g0320 a0003c0005t0080g0040 a0005c0012t0063g0321	15	388	0.0387	-13	c.-55 others(30): Show c.-55+2580_-55+2592delTTTTTTTTTTTTT	SEMA6D	ENSG00000137872.17	transcript	ENST00000536845.7	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SENP1_chr12_48037897_48111079	48071344	GGTGGCTC others(6): Show GGTGGCTCACGCCT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03654.hp1 HG00741.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0284 a0001c0001t0005g0285	2	394	0.0051	-13	c.995 others(28): Show c.995+310_995+322delAGGCGTGAGCCAC	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	9/17			chr12	TogoVar
SENP2_chr3_185581295_185638551	185607319	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0079 a0001c0001t0004g0079	1	360	0.0028	-13	c.618 others(28): Show c.618+835_618+847delTTTTTTTTTTTTT	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP2_chr3_185581295_185638551	185621386	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18968.hp1 NA19056.hp1 NA18940.hp1 NA18968.hp1 NA19056.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0192 a0001c0003t0217 a0001c0003t0221 a0001c0003t0192 a0001c0003t0217 a0001c0003t0221	a0001c0003t0192g0015 a0001c0003t0217g0014 a0001c0003t0221g0021 a0001c0003t0192g0015 a0001c0003t0217g0014 a0001c0003t0221g0021	3	360	0.0083	-13	c.144 others(30): Show c.1447-429_1447-417delTTTTTTTTTTTTT	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP2_chr3_185581295_185638551	185632213	GTTTTTTT others(6): Show GTTTTTTTTTTGTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG01433.hp2 others(3): Show HG00140.hp1 HG00642.hp2 HG01433.hp2 HG02735.hp2 HG03041.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 others(3): Show a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0069 a0001c0001t0181 a0001c0001t0207	a0001c0001t0065g0128 a0001c0001t0066g0001 a0001c0001t0067g0001 others(3): Show a0001c0001t0065g0128 a0001c0001t0066g0001 a0001c0001t0067g0001 a0001c0001t0069g0001 a0001c0001t0181g0043 a0001c0001t0207g0025	6	360	0.0167	-13	c.23 others(24): Show c.2393_*2405delGTTTTTTTTTTTT	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	17/17	2393	INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP2_chr3_185581295_185638551	185634589	AATTCTGC others(6): Show AATTCTGCAAATTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0151 a0001c0001t0024g0151	1	360	0.0028	-13	c.47 others(24): Show c.4746_*4758delATTCTGCAAATTC	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding		1039		chr3	TogoVar

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