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
LCOR_chr10_96827298_97000956	96877598	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0034	a0002c0002t0034g0114 a0002c0002t0034g0114	1	288	0.0035	-15	c.-32 others(36): Show c.-329-29650_-329-29636delTTTTTTTTTTTTTTT	LCOR	ENSG00000196233.14	transcript	ENST00000421806.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
LCOR_chr10_96827298_97000956	96891530	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG02809.hp1 others(4): Show HG01884.hp1 HG02615.hp1 HG02809.hp1 HG02886.hp1 HG02965.hp1 NA18906.hp2 NA20300.hp2	a0001 a0008 a0001 a0008	a0001c0007 a0008c0013 a0001c0007 a0008c0013	a0001c0007t0102 a0001c0007t0103 a0001c0007t0105 others(4): Show a0001c0007t0102 a0001c0007t0103 a0001c0007t0105 a0001c0007t0108 a0001c0007t0147 a0008c0013t0080 a0008c0013t0141	a0001c0007t0102g0181 a0001c0007t0103g0179 a0001c0007t0105g0182 others(4): Show a0001c0007t0102g0181 a0001c0007t0103g0179 a0001c0007t0105g0182 a0001c0007t0108g0180 a0001c0007t0147g0183 a0008c0013t0080g0174 a0008c0013t0141g0175	7	288	0.0243	-15	c.-32 others(36): Show c.-329-15715_-329-15701delTTTTTTTTTTTTTTT	LCOR	ENSG00000196233.14	transcript	ENST00000421806.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
LCP1_chr13_46120923_46187177	46145908	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG06807.hp1 HG01074.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0150 a0001c0001t0002g0298 a0001c0001t0001g0150 a0001c0001t0002g0298	2	382	0.0052	-15	c.117 others(32): Show c.1174+985_1174+999delTTTTTTTTTTTTTTT	LCP1	ENSG00000136167.15	transcript	ENST00000323076.7	protein_coding	10/15			chr13	TogoVar
LCP2_chr5_170241233_170302777	170290965	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp2 HG02818.hp1 others(4): Show HG02258.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG03225.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 a0001c0004t0010	a0001c0001t0001g0319 a0001c0002t0001g0318 a0001c0002t0001g0365 others(4): Show a0001c0001t0001g0319 a0001c0002t0001g0318 a0001c0002t0001g0365 a0001c0002t0001g0366 a0001c0002t0001g0368 a0001c0004t0002g0317 a0001c0004t0010g0364	7	384	0.0182	-15	c.141 others(32): Show c.141+2330_141+2344delCTTTCTTTCTTTCTT	LCP2	ENSG00000043462.13	transcript	ENST00000046794.10	protein_coding	2/20			chr5	TogoVar
LCP2_chr5_170241233_170302777	170291148	GGAGAGGG others(8): Show GGAGAGGGGAGGACAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02027.hp1 HG02135.hp2 others(12): Show HG00280.hp2 HG02027.hp1 HG02135.hp2 HG02559.hp1 HG02738.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG04184.hp1 NA18947.hp1 NA18954.hp2 NA19030.hp1 NA19058.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0003t0008 a0001c0004t0001 a0001c0004t0002 a0001c0005t0002 a0001c0006t0001	a0001c0001t0001g0300 a0001c0001t0001g0325 a0001c0002t0001g0245 others(12): Show a0001c0001t0001g0300 a0001c0001t0001g0325 a0001c0002t0001g0245 a0001c0003t0002g0246 a0001c0003t0002g0247 a0001c0003t0002g0280 a0001c0003t0002g0336 a0001c0003t0008g0243 a0001c0004t0001g0244 a0001c0004t0002g0298 a0001c0005t0002g0294 a0001c0005t0002g0296 a0001c0006t0001g0295 a0001c0006t0001g0297 a0001c0006t0001g0299	15	384	0.0391	-15	c.141 others(32): Show c.141+2147_141+2161delTTGTCCTCCCCTCTC	LCP2	ENSG00000043462.13	transcript	ENST00000046794.10	protein_coding	2/20			chr5	TogoVar
LCT_chr2_135782850_135842184	135785690	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0105 a0003c0003t0003g0105	1	366	0.0027	-15	c.26 others(26): Show c.2619_*2633delAAAAAAAAAAAAAAA	LCT	ENSG00000115850.10	transcript	ENST00000264162.7	protein_coding		2159		chr2	TogoVar
LDAF1_chr16_21153674_21185616	21156190	ATTTTATT others(8): Show ATTTTATTTTATTTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02257.hp2 others(3): Show HG01884.hp1 HG02145.hp1 HG02257.hp2 HG02486.hp1 HG03209.hp1 HG03453.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0002 a0004c0003t0001 a0004c0003t0002 a0001c0001t0002 a0004c0003t0001 a0004c0003t0002	a0001c0001t0002g0031 a0001c0001t0002g0079 a0001c0001t0002g0080 others(2): Show a0001c0001t0002g0031 a0001c0001t0002g0079 a0001c0001t0002g0080 a0004c0003t0001g0201 a0004c0003t0002g0200	6	390	0.0154	-15	c.-26 others(26): Show c.-2654_-2640delTTTTATTTTATTTAT	LDAF1	ENSG00000011638.11	transcript	ENST00000233047.9	protein_coding		2483		chr16	TogoVar
LDAF1_chr16_21153674_21185616	21168475	TTAATAAT others(8): Show TTAATAATGCTTTTAA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03486.hp1 HG03195.hp1 HG03486.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0040 a0004c0003t0001g0040	2	390	0.0051	-15	c.97- others(30): Show c.97-1942_97-1928delAATGCTTTTAATAAT	LDAF1	ENSG00000011638.11	transcript	ENST00000233047.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
LDAF1_chr16_21153674_21185616	21168958	ATATAATA others(8): Show ATATAATATATTATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02615.hp2 HG02647.hp1 others(8): Show HG01884.hp2 HG02615.hp2 HG02647.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp1 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0004c0003t0001 a0001c0001t0001 a0001c0001t0002 a0004c0003t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0089 others(5): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0004c0003t0001g0040	11	390	0.0282	-15	c.97- others(30): Show c.97-1474_97-1460delATATATTATATTATA	LDAF1	ENSG00000011638.11	transcript	ENST00000233047.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
LDAH_chr2_20679031_20828101	20800611	ATTTTTAT others(8): Show ATTTTTATTTTTTTAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01069.hp2 others(13): Show HG00280.hp1 HG00639.hp1 HG01069.hp2 HG01071.hp2 HG01123.hp2 HG01192.hp2 HG01261.hp2 HG02109.hp2 HG02572.hp1 HG02622.hp1 HG02717.hp2 HG02976.hp1 HG03098.hp1 HG03225.hp2 HG03540.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(13): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0088 a0001c0001t0003g0024 a0001c0001t0003g0030 a0001c0001t0004g0026 a0001c0001t0004g0031	16	258	0.0620	-15	c.154 others(30): Show c.154+684_154+698delATAAAAAAATAAAAA	LDAH	ENSG00000118961.15	transcript	ENST00000237822.8	protein_coding	2/6			chr2	TogoVar
LDB1_chr10_102101489_102125368	102106541	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp1 HG01952.hp2 HG02165.hp2 others(2): Show HG01361.hp1 HG01952.hp2 HG02165.hp2 HG02280.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0050 a0001c0001t0019 a0001c0001t0050	a0001c0001t0019g0051 a0001c0001t0019g0109 a0001c0001t0019g0151 others(1): Show a0001c0001t0019g0051 a0001c0001t0019g0109 a0001c0001t0019g0151 a0001c0001t0050g0076	5	376	0.0133	-15	c.15 others(26): Show c.1537_*1551delTTTTTTTTTTTTTTT	LDB1	ENSG00000198728.11	transcript	ENST00000673968.1	protein_coding	11/11	1537		chr10	TogoVar
LDB2_chr4_16496541_16903645	16531320	TCACCCTT others(8): Show TCACCCTTGCTCCCAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01123.hp2 others(14): Show HG00140.hp2 HG00741.hp2 HG01123.hp2 HG01169.hp2 HG01515.hp1 HG01517.hp1 HG02083.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02698.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0060 others(14): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0082 a0001c0001t0001g0102 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0001t0002g0043 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0093 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0006g0111	17	162	0.1049	-15	c.616 others(34): Show c.616-19231_616-19217delCTGGGAGCAAGGGTG	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	5/7			chr4	TogoVar
LDB2_chr4_16496541_16903645	16563429	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01433.hp1 HG02129.hp1 others(3): Show HG01192.hp1 HG01433.hp1 HG02129.hp1 NA18984.hp1 NA18993.hp1 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0002c0004t0001	a0001c0001t0001g0027 a0001c0001t0001g0076 a0001c0001t0002g0089 others(3): Show a0001c0001t0001g0027 a0001c0001t0001g0076 a0001c0001t0002g0089 a0001c0001t0003g0091 a0001c0001t0009g0088 a0002c0004t0001g0108	6	162	0.0370	-15	c.615 others(34): Show c.615+22478_615+22492delAAAAAAAAAAAAAAA	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	5/7			chr4	TogoVar
LDB2_chr4_16496541_16903645	16570462	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01081.hp2 HG01433.hp1 others(18): Show HG00423.hp1 HG01081.hp2 HG01433.hp1 HG02015.hp1 HG02129.hp2 HG02602.hp2 HG03017.hp2 HG03453.hp2 HG03486.hp1 NA18970.hp1 NA18970.hp2 NA18983.hp2 NA18986.hp1 NA19003.hp2 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19079.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0025 others(18): Show a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0104 a0001c0001t0001g0123 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0077 a0001c0001t0002g0107 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0009g0088 a0001c0001t0010g0162	21	162	0.1296	-15	c.615 others(34): Show c.615+15445_615+15459delTTTTTTTTTTTTTTT	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	5/7			chr4	TogoVar
LDB2_chr4_16496541_16903645	16690504	AGGGAGGG others(8): Show AGGGAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19240.hp1 HG02809.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0161 a0001c0001t0004g0038 a0001c0001t0001g0161 a0001c0001t0004g0038	2	162	0.0124	-15	c.235 others(34): Show c.235+68639_235+68653delCCCTCCCTCCCTCCC	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	2/7			chr4	TogoVar
LDB2_chr4_16496541_16903645	16739584	AAAAAAAT others(8): Show AAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	162	0.0062	-15	c.235 others(34): Show c.235+19559_235+19573delATATATATATTTTTT	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	2/7			chr4	TogoVar
LDHAL6A_chr11_18450856_18484601	18462640	AAACAAAC others(8): Show AAACAAACAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02257.hp1 HG02258.hp2 others(33): Show HG01168.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(15): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0055 a0001c0001t0068 a0001c0001t0071 a0001c0001t0072 a0001c0002t0013 a0001c0002t0034	a0001c0001t0001g0276 a0001c0001t0007g0011 a0001c0001t0007g0036 others(31): Show a0001c0001t0001g0276 a0001c0001t0007g0011 a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0040 a0001c0001t0007g0041 a0001c0001t0007g0042 a0001c0001t0007g0044 a0001c0001t0007g0046 a0001c0001t0007g0047 a0001c0001t0007g0283 a0001c0001t0008g0029 a0001c0001t0008g0265 a0001c0001t0008g0266 a0001c0001t0017g0277 a0001c0001t0017g0278 a0001c0001t0020g0275 a0001c0001t0022g0274 a0001c0001t0022g0316 a0001c0001t0023g0308 a0001c0001t0025g0312 a0001c0001t0025g0314 a0001c0001t0036g0286 a0001c0001t0037g0284 a0001c0001t0038g0315 a0001c0001t0040g0285 a0001c0001t0055g0045 a0001c0001t0068g0313 a0001c0001t0071g0269 a0001c0001t0072g0267 a0001c0002t0013g0289 a0001c0002t0013g0306 a0001c0002t0034g0288	36	420	0.0857	-15	c.127 others(32): Show c.127-1318_127-1304delCAAACAAACAAACAA	LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDHAL6B_chr15_59201843_59213588	59213136	TTTATTAT others(8): Show TTTATTATTATTATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01891.hp2 HG04115.hp2 others(3): Show HG00733.hp2 HG01891.hp2 HG04115.hp2 NA18967.hp1 NA18977.hp2 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	6	448	0.0134	-15	c.50 others(26): Show c.5051_*5065delTTATTATTATTATTA	LDHAL6B	ENSG00000171989.6	transcript	ENST00000307144.6	protein_coding		4549		chr15	TogoVar
LDHA_chr11_18389563_18413425	18398603	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0114 a0001c0002t0002g0114	1	390	0.0026	-15	c.127 others(30): Show c.127-816_127-802delTTTTTTTTTTTTTTT	LDHA	ENSG00000134333.15	transcript	ENST00000422447.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	35994336	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	236	0.0042	-15	c.47- others(32): Show c.47-41752_47-41738delAAAAAAAAAAAAAAA	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36049702	GTTACATT others(8): Show GTTACATTGCAAGTAT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02896.hp2 HG02572.hp1 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0186 a0001c0002t0001g0167 a0001c0002t0001g0186	2	236	0.0085	-15	c.193 others(34): Show c.193+13455_193+13469delTACATTGCAAGTATT	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36133354	CTTTCTTT others(8): Show CTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00597.hp2 others(59): Show HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG01070.hp1 HG01099.hp2 HG01891.hp1 HG01993.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02683.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03831.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 NA18612.hp1 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18951.hp1 NA18957.hp1 NA18957.hp2 NA18970.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19012.hp1 NA19066.hp1 NA19066.hp2 NA19084.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0020 a0001c0001t0025 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0002c0003t0001 a0002c0003t0004 a0003c0005t0004 a0006c0007t0001	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0040 others(59): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0060 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0207 a0001c0001t0002g0062 a0001c0001t0002g0078 a0001c0001t0002g0104 a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0003g0063 a0001c0001t0003g0066 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0082 a0001c0001t0003g0111 a0001c0001t0003g0177 a0001c0001t0005g0181 a0001c0001t0005g0200 a0001c0001t0007g0218 a0001c0001t0008g0095 a0001c0001t0010g0108 a0001c0001t0010g0178 a0001c0001t0011g0036 a0001c0001t0011g0211 a0001c0001t0020g0010 a0001c0001t0025g0201 a0001c0002t0001g0017 a0001c0002t0001g0067 a0001c0002t0001g0089 a0001c0002t0001g0099 a0001c0002t0001g0147 a0001c0002t0001g0193 a0001c0002t0001g0202 a0001c0002t0002g0002 a0001c0002t0002g0217 a0001c0002t0003g0077 a0001c0002t0003g0080 a0001c0002t0003g0110 a0001c0002t0004g0019 a0001c0002t0004g0155 a0001c0002t0004g0197 a0001c0002t0004g0219 a0001c0002t0005g0070 a0001c0002t0005g0156 a0001c0002t0006g0049 a0001c0002t0008g0011 a0001c0002t0009g0206 a0001c0002t0011g0216 a0002c0003t0001g0003 a0002c0003t0004g0234 a0002c0003t0004g0235 a0003c0005t0004g0179 a0006c0007t0001g0223	62	236	0.2627	-15	c.454 others(34): Show c.454+34922_454+34936delCTTTTCTTTTCTTTT	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36188371	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02818.hp2 HG03130.hp1 others(2): Show HG02717.hp2 HG02818.hp2 HG03130.hp1 HG03540.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0008 a0001c0001t0008 a0001c0002t0008	a0001c0001t0008g0095 a0001c0001t0008g0143 a0001c0001t0008g0199 others(2): Show a0001c0001t0008g0095 a0001c0001t0008g0143 a0001c0001t0008g0199 a0001c0002t0008g0038 a0001c0002t0008g0039	5	236	0.0212	-15	c.455 others(34): Show c.455-38700_455-38686delAAAAAAAAAAAAAAA	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDLRAD4_chr18_13213760_13657751	13226710	GAATAAAA others(8): Show GAATAAAATAAAATAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp1 HG02965.hp2 others(1): Show HG02145.hp2 HG02922.hp1 HG02965.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0018 a0001c0001t0002 a0001c0001t0010 a0001c0001t0018	a0001c0001t0002g0030 a0001c0001t0010g0055 a0001c0001t0010g0084 others(1): Show a0001c0001t0002g0030 a0001c0001t0010g0055 a0001c0001t0010g0084 a0001c0001t0018g0081	4	178	0.0225	-15	c.-46 others(34): Show c.-467+7757_-467+7771delAAATAAAATAAAATA	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13321861	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00609.hp2 others(41): Show HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00642.hp1 HG01192.hp1 HG01243.hp1 HG01981.hp2 HG02027.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02965.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03831.hp1 HG03927.hp2 NA18939.hp1 NA18945.hp1 NA18954.hp1 NA18959.hp1 NA18966.hp2 NA18971.hp2 NA18984.hp1 NA18990.hp1 NA18998.hp2 NA19010.hp2 NA19060.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0031 a0001c0001t0033 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0052 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0002t0001 a0001c0002t0005 a0002c0003t0005	a0001c0001t0001g0023 a0001c0001t0001g0068 a0001c0001t0001g0134 others(41): Show a0001c0001t0001g0023 a0001c0001t0001g0068 a0001c0001t0001g0134 a0001c0001t0001g0152 a0001c0001t0001g0167 a0001c0001t0002g0009 a0001c0001t0002g0058 a0001c0001t0002g0101 a0001c0001t0002g0117 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0003g0002 a0001c0001t0003g0034 a0001c0001t0003g0045 a0001c0001t0003g0066 a0001c0001t0003g0121 a0001c0001t0004g0057 a0001c0001t0004g0175 a0001c0001t0005g0050 a0001c0001t0006g0132 a0001c0001t0007g0025 a0001c0001t0009g0031 a0001c0001t0015g0086 a0001c0001t0019g0048 a0001c0001t0019g0072 a0001c0001t0020g0178 a0001c0001t0031g0039 a0001c0001t0033g0082 a0001c0001t0039g0049 a0001c0001t0041g0029 a0001c0001t0042g0120 a0001c0001t0046g0078 a0001c0001t0047g0114 a0001c0001t0049g0067 a0001c0001t0052g0060 a0001c0001t0057g0038 a0001c0001t0058g0063 a0001c0001t0060g0021 a0001c0001t0061g0091 a0001c0002t0001g0136 a0001c0002t0005g0074 a0002c0003t0005g0080	44	178	0.2472	-15	c.-38 others(36): Show c.-383+43700_-383+43714delAAAAAAAAAAAAAAA	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13379966	GCCCCTGC others(8): Show GCCCCTGCCCGCCAGC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	178	0.0056	-15	c.-38 others(34): Show c.-382-7349_-382-7335delCCAGCCCCCTGCCCG	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13459159	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp2 HG02717.hp1 HG02486.hp1 HG02630.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0014 a0001c0001t0002 a0001c0002t0014	a0001c0001t0002g0090 a0001c0002t0014g0052 a0001c0002t0014g0123 a0001c0001t0002g0090 a0001c0002t0014g0052 a0001c0002t0014g0123	3	178	0.0169	-15	c.181 others(34): Show c.181+20793_181+20807delAAAAAAAAAAAAAAA	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13610291	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0145 a0001c0001t0003g0145	1	178	0.0056	-15	c.182 others(34): Show c.182-10825_182-10811delTTTTTTTTTTTTTTG	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6			chr18	TogoVar
LEF1_chr4_108042548_108173932	108064680	CACACACA others(8): Show CACACACACACACAAT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01952.hp1 HG01975.hp1 others(4): Show HG01934.hp1 HG01952.hp1 HG01975.hp1 HG02300.hp1 HG02300.hp2 NA18981.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0036 a0001c0001t0002g0043 a0001c0001t0005g0131 others(4): Show a0001c0001t0002g0036 a0001c0001t0002g0043 a0001c0001t0005g0131 a0001c0001t0005g0135 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0005g0164	7	264	0.0265	-15	c.111 others(32): Show c.1117-311_1117-297delATTGTGTGTGTGTGT	LEF1	ENSG00000138795.10	transcript	ENST00000265165.6	protein_coding	9/11			chr4	TogoVar
LEKR1_chr3_156821353_157051129	156987022	CTATTGTA others(8): Show CTATTGTATTGTATTG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18986.hp2 NA20805.hp2 HG03225.hp1 NA18986.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0179 a0001c0001t0001g0234 a0001c0004t0001g0048 a0001c0001t0001g0179 a0001c0001t0001g0234 a0001c0004t0001g0048	3	244	0.0123	-15	c.828 others(32): Show c.828-5575_828-5561delTATTGTATTGTATTG	LEKR1	ENSG00000197980.14	transcript	ENST00000356539.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
LELP1_chr1_153198430_153210120	153204559	CCCTAAAT others(8): Show CCCTAAATGAGAAGAT	C C	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	464	0.0022	-15	c.-21 others(30): Show c.-21-127_-21-113delCCTAAATGAGAAGAT	LELP1	ENSG00000203784.3	transcript	ENST00000368747.2	protein_coding	1/1			chr1	TogoVar
LEMD1_chr1_205376378_205427056	205389037	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02027.hp2 HG02071.hp2 others(6): Show HG00408.hp2 HG02027.hp2 HG02071.hp2 HG02293.hp2 NA18951.hp1 NA18995.hp2 NA19078.hp1 NA19086.hp2 NA19091.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0006 a0009c0010 a0001c0001 a0001c0006 a0009c0010	a0001c0001t0001 a0001c0006t0001 a0009c0010t0001 a0001c0001t0001 a0001c0006t0001 a0009c0010t0001	a0001c0001t0001g0017 a0001c0001t0001g0174 a0001c0001t0001g0178 others(5): Show a0001c0001t0001g0017 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0006t0001g0332 a0001c0006t0001g0333 a0009c0010t0001g0261	9	390	0.0231	-15	c.271 others(32): Show c.271-4688_271-4674delAAAAAAAAAAAAAAA	LEMD1	ENSG00000186007.10	transcript	ENST00000367153.9	protein_coding	4/5			chr1	TogoVar
LEMD2_chr6_33766213_33794130	33771939	CGCCCGCC others(8): Show CGCCCGCCCTGGGGCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00544.hp1 others(132): Show HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01074.hp1 HG01123.hp2 HG01169.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01934.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02630.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02965.hp1 HG03041.hp2 HG03139.hp1 HG03225.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19057.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19087.hp2 NA20129.hp2 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0014 a0001c0001t0019 others(3): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0002c0002t0011 a0004c0006t0021	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 others(53): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0014g0099 a0001c0001t0019g0090 a0001c0001t0020g0091 a0002c0002t0011g0051 a0004c0006t0021g0101	135	400	0.3375	-15	c.67 others(24): Show c.674_*688delAGCCCCAGGGCGGGC	LEMD2	ENSG00000161904.13	transcript	ENST00000293760.10	protein_coding	9/9	674		chr6	TogoVar
LENG8_chr19_54444199_54467016	54444671	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02895.hp1 HG03471.hp2 others(1): Show HG02145.hp1 HG02895.hp1 HG03471.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0054 a0001c0001t0001g0055 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0002t0001g0033	4	431	0.0093	-15	c.-46 others(26): Show c.-4694_-4680delAAAAAAAAAAAAAAA	LENG8	ENSG00000167615.18	transcript	ENST00000326764.10	protein_coding		4527		chr19	TogoVar
LEPR_chr1_65415668_65646559	65558534	TTTTGTTT others(8): Show TTTTGTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00558.hp1 others(46): Show HG00099.hp1 HG00280.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01175.hp2 HG01255.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02071.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02280.hp2 HG02523.hp2 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03579.hp1 HG03654.hp1 NA18612.hp1 NA18939.hp1 NA18942.hp2 NA18946.hp2 NA18965.hp2 NA18972.hp2 NA18979.hp2 NA18984.hp2 NA18985.hp1 NA18999.hp1 NA19066.hp2 NA19068.hp2 NA19081.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0008 a0011 a0013	a0001c0009 a0002c0002 a0002c0010 others(7): Show a0001c0009 a0002c0002 a0002c0010 a0002c0025 a0003c0004 a0007c0023 a0007c0024 a0008c0022 a0011c0026 a0013c0015	a0001c0009t0012 a0002c0002t0001 a0002c0002t0005 others(13): Show a0001c0009t0012 a0002c0002t0001 a0002c0002t0005 a0002c0002t0020 a0002c0002t0036 a0002c0002t0045 a0002c0002t0046 a0002c0010t0013 a0002c0010t0016 a0002c0025t0025 a0003c0004t0023 a0007c0023t0003 a0007c0024t0002 a0008c0022t0004 a0011c0026t0001 a0013c0015t0001	a0001c0009t0012g0187 a0002c0002t0001g0030 a0002c0002t0001g0031 others(46): Show a0001c0009t0012g0187 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0070 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0091 a0002c0002t0005g0117 a0002c0002t0005g0124 a0002c0002t0005g0151 a0002c0002t0005g0154 a0002c0002t0005g0156 a0002c0002t0005g0157 a0002c0002t0005g0158 a0002c0002t0005g0159 a0002c0002t0005g0207 a0002c0002t0020g0175 a0002c0002t0036g0026 a0002c0002t0045g0181 a0002c0002t0046g0116 a0002c0010t0013g0201 a0002c0010t0013g0209 a0002c0010t0013g0211 a0002c0010t0016g0041 a0002c0010t0016g0055 a0002c0025t0025g0015 a0003c0004t0023g0212 a0007c0023t0003g0039 a0007c0024t0002g0205 a0008c0022t0004g0152 a0011c0026t0001g0035 a0013c0015t0001g0087	49	216	0.2269	-15	c.-20 others(32): Show c.-20-7008_-20-6994delGTTTTTTTTTTGTTT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LETM2_chr8_38381476_38414527	38409386	TTGTGCTC others(8): Show TTGTGCTCCATCAGAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0167 a0001c0001t0006g0167	1	364	0.0028	-15	c.11 others(26): Show c.1113_*1127delTGTGCTCCATCAGAG	LETM2	ENSG00000165046.13	transcript	ENST00000379957.9	protein_coding	11/11	1113		chr8	TogoVar
LEUTX_chr19_39773854_39791291	39783245	TTTATATA others(8): Show TTTATATATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	476	0.0021	-15	c.8-1 others(28): Show c.8-1261_8-1247delTATATATAAATTATA	LEUTX	ENSG00000213921.8	transcript	ENST00000638280.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
LEXM_chr1_54801063_54847252	54825041	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00741.hp1 others(24): Show HG00280.hp2 HG00639.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01516.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02738.hp1 HG03017.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03490.hp1 HG03927.hp2 NA20129.hp1 NA20752.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0002 a0002c0001 a0012c0021 a0001c0002 a0002c0001 a0012c0021	a0001c0002t0002 a0002c0001t0001 a0012c0021t0004 a0001c0002t0002 a0002c0001t0001 a0012c0021t0004	a0001c0002t0002g0010 a0001c0002t0002g0023 a0001c0002t0002g0046 others(17): Show a0001c0002t0002g0010 a0001c0002t0002g0023 a0001c0002t0002g0046 a0001c0002t0002g0050 a0001c0002t0002g0077 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0002c0001t0001g0117 a0002c0001t0001g0128 a0012c0021t0004g0291	27	382	0.0707	-15	c.118 others(34): Show c.1184+7931_1184+7945delTTTTTTTTTTTTTTT	LEXM	ENSG00000162398.12	transcript	ENST00000371273.4	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEXM_chr1_54801063_54847252	54844959	GTTTTTTT others(8): Show GTTTTTTTTTTTGTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 NA20905.hp2 HG04115.hp1 NA20905.hp2	a0002 a0010 a0002 a0010	a0002c0001 a0010c0016 a0002c0001 a0010c0016	a0002c0001t0001 a0010c0016t0001 a0002c0001t0001 a0010c0016t0001	a0002c0001t0001g0153 a0010c0016t0001g0197 a0002c0001t0001g0153 a0010c0016t0001g0197	2	382	0.0052	-15	c.30 others(26): Show c.3087_*3101delTTTTTTTTTTTGTTT	LEXM	ENSG00000162398.12	transcript	ENST00000371273.4	protein_coding		2708		chr1	TogoVar
LGALS2_chr22_37565248_37585087	37583909	TTTTTCTG others(8): Show TTTTTCTGATTGTATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	460	0.0022	-15	c.-40 others(26): Show c.-4019_-4005delTATACAATCAGAAAA	LGALS2	ENSG00000100079.7	transcript	ENST00000215886.6	protein_coding		3823		chr22	TogoVar
LGALS3BP_chr17_78966255_78984923	78975791	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01496.hp2 NA18946.hp1 others(4): Show HG00544.hp2 HG01496.hp2 NA18946.hp1 NA18965.hp1 NA18978.hp2 NA18980.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0031 a0001c0001t0001g0065 a0001c0001t0002g0023 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0065 a0001c0001t0002g0023 a0001c0001t0002g0056	7	456	0.0154	-15	c.244 others(30): Show c.244+159_244+173delTTTTTTTTTTTTTTT	LGALS3BP	ENSG00000108679.13	transcript	ENST00000262776.8	protein_coding	3/5			chr17	TogoVar
LGALS3BP_chr17_78966255_78984923	78984087	CATGCCGG others(8): Show CATGCCGGCTAATTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	456	0.0022	-15	c.-43 others(26): Show c.-4302_-4288delAAAATTAGCCGGCAT	LGALS3BP	ENSG00000108679.13	transcript	ENST00000262776.8	protein_coding		4165		chr17	TogoVar
LGALS4_chr19_38796674_38817945	38805166	AAATAATA others(8): Show AAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00438.hp2 others(74): Show HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG01123.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02132.hp1 HG02155.hp1 HG03688.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19075.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19091.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(52): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0158 a0001c0001t0001g0176 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0214 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0007c0010t0001g0324	77	426	0.1808	-15	c.474 others(32): Show c.474+1280_475-1272delATTATTATTATTATT	LGALS4	ENSG00000171747.9	transcript	ENST00000307751.9	protein_coding	4/9			chr19	TogoVar
LGALS9B_chr17_20444395_20472539	20471854	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0021 a0021	a0021c0024 a0021c0024	a0021c0024t0001 a0021c0024t0001	a0021c0024t0001g0170 a0021c0024t0001g0170	1	433	0.0023	-15	c.-43 others(26): Show c.-4399_-4385delAAAAAAAAAAAAAAA	LGALS9B	ENSG00000170298.16	transcript	ENST00000423676.8	protein_coding		4316		chr17	TogoVar
LGMN_chr14_92698809_92753627	92719236	GCCACCAC others(8): Show GCCACCACCGCCACCA	G G	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18977.hp1 NA19084.hp2 NA18955.hp1 NA18977.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0345 a0001c0001t0001g0396 a0001c0002t0001g0261 a0001c0001t0001g0345 a0001c0001t0001g0396 a0001c0002t0001g0261	3	420	0.0071	-15	c.139 others(30): Show c.139-407_139-393delTGGTGGCGGTGGTGG	LGMN	ENSG00000100600.15	transcript	ENST00000334869.9	protein_coding	2/13			chr14	TogoVar
LGMN_chr14_92698809_92753627	92719257	ACCGCCAC others(8): Show ACCGCCACCGCCGCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0272 a0001c0002t0001g0272	1	420	0.0024	-15	c.139 others(30): Show c.139-428_139-414delCGGCGGCGGTGGCGG	LGMN	ENSG00000100600.15	transcript	ENST00000334869.9	protein_coding	2/13			chr14	TogoVar
LGMN_chr14_92698809_92753627	92719302	ACCGCCGC others(8): Show ACCGCCGCCACCGCCG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG03834.hp2 others(1): Show HG01516.hp1 HG01517.hp2 HG03834.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0324 others(1): Show a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0324 a0002c0003t0001g0121	4	420	0.0095	-15	c.139 others(30): Show c.139-473_139-459delCGGCGGTGGCGGCGG	LGMN	ENSG00000100600.15	transcript	ENST00000334869.9	protein_coding	2/13			chr14	TogoVar
LGMN_chr14_92698809_92753627	92719317	GCCGCCGC others(8): Show GCCGCCGCCACCGCCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	420	0.0024	-15	c.139 others(30): Show c.139-488_139-474delTGGCGGTGGCGGCGG	LGMN	ENSG00000100600.15	transcript	ENST00000334869.9	protein_coding	2/13			chr14	TogoVar
LGMN_chr14_92698809_92753627	92719324	CCACCGCC others(8): Show CCACCGCCACCGCCAT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18972.hp1 NA19060.hp1 HG02155.hp2 NA18972.hp1 NA19060.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0050 a0002c0003t0001g0066 a0002c0003t0001g0074 a0002c0003t0001g0050 a0002c0003t0001g0066 a0002c0003t0001g0074	3	420	0.0071	-15	c.139 others(30): Show c.139-495_139-481delATGGCGGTGGCGGTG	LGMN	ENSG00000100600.15	transcript	ENST00000334869.9	protein_coding	2/13			chr14	TogoVar
LGR4_chr11_27360961_27477790	27436037	GAGTTGCT others(8): Show GAGTTGCTGGGAGTAC	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp2 HG02886.hp2 others(6): Show HG02572.hp1 HG02647.hp2 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp2 HG03453.hp2 HG03540.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0004t0013	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0006g0234 others(6): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0006g0234 a0001c0001t0010g0037 a0001c0004t0013g0013 a0001c0004t0013g0035 a0001c0004t0013g0036 a0001c0004t0013g0042 a0001c0004t0013g0046	9	244	0.0369	-15	c.186 others(34): Show c.186-23192_186-23178delGTACTCCCAGCAACT	LGR4	ENSG00000205213.14	transcript	ENST00000379214.9	protein_coding	1/17			chr11	TogoVar

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