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
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAT others(6): Show AAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0226 a0001c0001t0006g0226	1	169	0.0059	13	c.280 others(30): Show c.280-5670_280-5669insATATATATTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24898520	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00741.hp1 others(14): Show HG00140.hp1 HG00140.hp2 HG00741.hp1 HG01257.hp1 HG01978.hp1 HG02055.hp1 HG02074.hp2 HG02145.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp2 HG02970.hp2 HG03130.hp2 HG03486.hp1 NA18990.hp2 NA18993.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(10): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0022 a0001c0001t0027 a0001c0001t0033 a0001c0001t0049 a0001c0001t0054 a0001c0001t0062 a0001c0001t0077 a0001c0001t0113 a0001c0001t0117	a0001c0001t0001g0091 a0001c0001t0001g0235 a0001c0001t0007g0070 others(14): Show a0001c0001t0001g0091 a0001c0001t0001g0235 a0001c0001t0007g0070 a0001c0001t0010g0160 a0001c0001t0011g0311 a0001c0001t0022g0105 a0001c0001t0022g0192 a0001c0001t0022g0193 a0001c0001t0027g0035 a0001c0001t0033g0185 a0001c0001t0049g0299 a0001c0001t0049g0301 a0001c0001t0054g0042 a0001c0001t0062g0206 a0001c0001t0077g0002 a0001c0001t0113g0238 a0001c0001t0117g0169	17	39	0.4359	13	c.78+ others(28): Show c.78+3281_78+3293dupAAAAAAAAAAAAA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	2/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24951590	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG03942.hp2 NA18956.hp1 HG01074.hp1 HG03942.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0001 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0141 a0001c0001t0003g0003 a0001c0001t0012g0120 a0001c0001t0001g0141 a0001c0001t0003g0003 a0001c0001t0012g0120	3	4	0.7500	13	c.-26 others(24): Show c.-2659_-2658insTTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding		2490		chr12	TogoVar
BCAT2_chr19_48790064_48816029	48811494	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01081.hp2 HG01106.hp2 others(33): Show HG00639.hp1 HG01081.hp2 HG01106.hp2 HG01243.hp1 HG01891.hp2 HG01943.hp2 HG02055.hp1 HG02129.hp2 HG02486.hp1 HG02572.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03688.hp1 HG03927.hp2 HG06807.hp1 NA18941.hp1 NA18948.hp1 NA18953.hp1 NA18955.hp2 NA18964.hp1 NA18983.hp1 NA19002.hp2 NA19005.hp1 NA19062.hp1 NA19063.hp1 NA19077.hp2 NA19080.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0091 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0188	36	139	0.2590	13	c.-48 others(22): Show c.-488_-487insTTTTTTTTTTTTT	BCAT2	ENSG00000105552.15	transcript	ENST00000316273.11	protein_coding		466		chr19	TogoVar
BCCIP_chr10_125818546_125841551	125826996	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00733.hp2 others(24): Show HG00408.hp2 HG00597.hp1 HG00733.hp2 HG01074.hp1 HG01243.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp2 HG02300.hp1 HG02602.hp1 HG02630.hp2 NA18942.hp2 NA18961.hp2 NA18995.hp1 NA19009.hp1 NA19012.hp2 NA19062.hp1 NA19067.hp2 NA19076.hp2 NA19080.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0032 others(13): Show a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0172 a0001c0001t0002g0027 a0001c0001t0002g0045 a0001c0001t0002g0137 a0001c0001t0002g0165	27	160	0.1688	13	c.240 others(28): Show c.240+340_240+341insAAAAAAAAAAAAA	BCCIP	ENSG00000107949.17	transcript	ENST00000278100.11	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
BCKDHB_chr6_80101671_80351270	80205791	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0095 a0001c0001t0011g0095	1	94	0.0106	13	c.951 others(30): Show c.951+2579_951+2580insTGTGTGTGTGTGT	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	8/9			chr6	TogoVar
BCL11A_chr2_60452194_60558654	60459493	T T	TAAAGGAA others(6): Show TAAAGGAAAAATGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0147 a0001c0001t0048g0147	1	260	0.0038	13	c.89 others(22): Show c.898_*910dupTCATTTTTCCTTT	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	4/4	910		chr2	TogoVar
BCL11A_chr2_60452194_60558654	60553511	A A	AAAAAAAA others(6): Show AAAAAAAAAAGAGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0257 a0001c0001t0066g0257	1	60	0.0167	13	c.-24 others(22): Show c.-242_-241insCCTCTTTTTTTTT	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	1/4	242		chr2	TogoVar
BCL11B_chr14_99164287_99277197	99255405	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0253 a0001c0002t0003g0253	1	42	0.0238	13	c.427 others(30): Show c.427+2053_427+2065dupTTTTTTTTTTTTT	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	2/3			chr14	TogoVar
BCL2A1_chr15_79955892_79976196	79959784	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0012 a0004c0004t0001g0012	1	340	0.0029	13	c.12 others(24): Show c.1282_*1283insTTTTTTTTTTTTT	BCL2A1	ENSG00000140379.9	transcript	ENST00000267953.4	protein_coding		1107		chr15	TogoVar
BCL2L11_chr2_111115914_111173444	111170699	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01123.hp2 HG02004.hp2 others(3): Show HG00280.hp1 HG01123.hp2 HG02004.hp2 HG02896.hp2 HG02897.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0071 a0001c0002t0001g0077 others(2): Show a0001c0002t0001g0023 a0001c0002t0001g0071 a0001c0002t0001g0077 a0001c0002t0001g0087 a0001c0002t0001g0130	6	69	0.0870	13	c.64 others(24): Show c.6468_*6469insAAAAAAAAAAAAA	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding		2256		chr2	TogoVar
BCL2L13_chr22_17633757_17735855	17646955	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	81	0.0123	13	c.-51 others(30): Show c.-51+8070_-51+8071insATATATATTTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17646955	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0177 a0001c0001t0004g0177	1	81	0.0123	13	c.-51 others(30): Show c.-51+8070_-51+8071insATATATTTTTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17680215	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0019 a0005c0008t0019	a0005c0008t0019g0255 a0005c0008t0019g0255	1	77	0.0130	13	c.122 others(30): Show c.122-2997_122-2985dupAAAAAAAAAAAAA	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17685760	C C	CTTTTTCT others(6): Show CTTTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19078.hp2 NA18952.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0221 a0001c0001t0010g0226 a0001c0001t0010g0221 a0001c0001t0010g0226	2	89	0.0225	13	c.229 others(30): Show c.229+2444_229+2445insCTTTTTTTTTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17711304	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01496.hp2 HG02135.hp2 others(10): Show HG01243.hp1 HG01496.hp2 HG02135.hp2 HG02897.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp2 HG03225.hp2 HG03540.hp1 HG04199.hp1 NA18906.hp1 NA19091.hp1 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0008 a0001c0001 a0001c0007 a0005c0008	a0001c0001t0003 a0001c0001t0009 a0001c0001t0024 others(4): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0024 a0001c0001t0046 a0001c0007t0009 a0001c0007t0044 a0005c0008t0019	a0001c0001t0003g0027 a0001c0001t0003g0042 a0001c0001t0003g0052 others(10): Show a0001c0001t0003g0027 a0001c0001t0003g0042 a0001c0001t0003g0052 a0001c0001t0003g0107 a0001c0001t0009g0037 a0001c0001t0024g0243 a0001c0001t0046g0046 a0001c0007t0009g0040 a0001c0007t0009g0059 a0001c0007t0044g0033 a0005c0008t0019g0254 a0005c0008t0019g0255 a0005c0008t0019g0295	13	221	0.0588	13	c.600 others(30): Show c.600+8929_600+8930insTTTTTTTTTTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715170	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0285 a0001c0002t0001g0285	1	251	0.0040	13	c.601 others(32): Show c.601-11506_601-11505insATATATATTTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L1_chr20_31659458_31727868	31697892	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA20905.hp2 HG02015.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0086 a0001c0001t0001g0087	2	68	0.0294	13	c.564 others(32): Show c.564+23750_564+23762dupAAAAAAAAAAAAA	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL7A_chr12_122016884_122067044	122038431	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02074.hp1 NA18980.hp1 others(1): Show HG01952.hp2 HG02074.hp1 NA18980.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0010 a0001c0001t0028 others(1): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0028 a0001c0002t0006	a0001c0001t0005g0191 a0001c0001t0010g0009 a0001c0001t0028g0172 others(1): Show a0001c0001t0005g0191 a0001c0001t0010g0009 a0001c0001t0028g0172 a0001c0002t0006g0202	4	86	0.0465	13	c.271 others(30): Show c.271+3020_271+3032dupAAAAAAAAAAAAA	BCL7A	ENSG00000110987.9	transcript	ENST00000261822.5	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
BCL7B_chr7_73531356_73562690	73555401	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01192.hp2 others(39): Show HG00099.hp2 HG01081.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01517.hp2 HG01891.hp2 HG02055.hp2 HG02145.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA19043.hp2 NA20129.hp1 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0017 others(30): Show a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0003g0006 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0005g0054 a0001c0001t0005g0057 a0001c0001t0005g0058	42	251	0.1673	13	c.92+ others(28): Show c.92+2085_92+2086insTTTTTTTTTTTTT	BCL7B	ENSG00000106635.8	transcript	ENST00000223368.7	protein_coding	1/5			chr7	TogoVar
BCL9_chr1_147536501_147631216	147540231	T T	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 NA18906.hp1 NA18945.hp1 HG00438.hp2 NA18906.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0165 a0001c0001t0003g0178 a0001c0001t0007g0099 a0001c0001t0003g0165 a0001c0001t0003g0178 a0001c0001t0007g0099	3	9	0.3333	13	c.-19 others(24): Show c.-1921_-1920insCTCTCTCTCTCTC	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		1269		chr1	TogoVar
BCLAF1_chr6_136251627_136294846	136278994	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0113 a0001c0001t0008g0113	1	32	0.0313	13	c.105 others(28): Show c.105-219_105-218insGTGTGTGTGTGTG	BCLAF1	ENSG00000029363.17	transcript	ENST00000531224.6	protein_coding	3/12			chr6	TogoVar
BCLAF3_chrX_19907860_19996061	19934936	A A	AGCTTTGG others(6): Show AGCTTTGGAAGGCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0075 a0001c0001t0011g0075	1	205	0.0049	13	c.195 others(30): Show c.1950+872_1950+873insAGCCTTCCAAAGC	BCLAF3	ENSG00000173681.17	transcript	ENST00000379682.9	protein_coding	10/11			chrX	TogoVar
BCO1_chr16_81233689_81296142	81246850	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0104 a0002c0004t0001g0104	1	225	0.0044	13	c.193 others(30): Show c.193+1253_193+1265dupAAAAAAAAAAAAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
BCO2_chr11_112170512_112223946	112192925	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp2 HG02280.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0107 a0001c0001t0001g0108	2	16	0.1250	13	c.294 others(28): Show c.294-543_294-531dupTTTTTTTTTTTTT	BCO2	ENSG00000197580.13	transcript	ENST00000357685.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
BCORL1_chrX_129977635_130063071	130043785	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02135.hp1 HG02451.hp2 others(2): Show HG01361.hp1 HG02135.hp1 HG02451.hp2 HG02630.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0004 a0001c0001t0001 a0001c0008t0004	a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0026 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0079 a0001c0008t0004g0094	5	150	0.0333	13	c.484 others(32): Show c.4840+4503_4840+4504insATATATATATATA	BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	11/13			chrX	TogoVar
BCR_chr22_23175509_23323037	23180592	A A	AGCGGCGG others(6): Show AGCGGCGGCGGCAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0098 a0001c0002t0098	a0001c0002t0098g0154 a0001c0002t0098g0154	1	26	0.0385	13	c.-36 others(22): Show c.-369_-368insGCGGCGGCGGCAG	BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	1/23	368		chr22	TogoVar
BCR_chr22_23175509_23323037	23202721	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA19004.hp2 HG01123.hp2 NA19004.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0007c0025 a0001c0002 a0007c0025	a0001c0002t0005 a0007c0025t0078 a0001c0002t0005 a0007c0025t0078	a0001c0002t0005g0261 a0007c0025t0078g0080 a0001c0002t0005g0261 a0007c0025t0078g0080	2	107	0.0187	13	c.127 others(34): Show c.1279+20482_1279+20483insGTGTGTGTGTGTG	BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	1/22			chr22	TogoVar
BCR_chr22_23175509_23323037	23297204	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0256 a0001c0002t0032g0256	1	281	0.0036	13	c.301 others(32): Show c.3012+2051_3012+2052insTTTTTTTTTTTTT	BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr22	TogoVar
BDH1_chr3_197504783_197560968	197510599	G G	GGGTGTGT others(6): Show GGGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	181	0.0055	13	c.12 others(24): Show c.1295_*1296insACACACACACACC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1295		chr3	TogoVar
BDH1_chr3_197504783_197560968	197510599	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp1 HG02602.hp1 HG01256.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0011 a0001c0001t0001 a0001c0002t0011	a0001c0001t0001g0214 a0001c0002t0011g0029 a0001c0001t0001g0214 a0001c0002t0011g0029	2	182	0.0110	13	c.12 others(24): Show c.1295_*1296insACACACACACACA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1295		chr3	TogoVar
BDH1_chr3_197504783_197560968	197510692	T T	TACATGTG others(6): Show TACATGTGTGTAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01975.hp2 HG01993.hp1 HG01975.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0148 a0001c0001t0028g0150 a0001c0001t0028g0148 a0001c0001t0028g0150	2	314	0.0064	13	c.12 others(24): Show c.1202_*1203insCTTACACACATGT	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1202		chr3	TogoVar
BDH1_chr3_197504783_197560968	197525865	C C	CTCTGCAG others(6): Show CTCTGCAGGTCTGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0038 a0001c0002t0031g0038	1	307	0.0033	13	c.268 others(30): Show c.268-3085_268-3084insACAGACCTGCAGA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	5/7			chr3	TogoVar
BDKRB2_chr14_96199839_96249164	96216752	G G	GAGGAGGA others(6): Show GAGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0228 a0001c0001t0054g0228	1	434	0.0023	13	c.-40 others(32): Show c.-40+11794_-40+11806dupAGGAGGAGGAGGA	BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
BEAN1_chr16_66422295_66487833	66426614	C C	CCCTGCCA others(6): Show CCCTGCCAGGCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00558.hp1 others(106): Show HG00140.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01516.hp2 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18947.hp1 NA18953.hp1 NA18955.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA18993.hp2 NA18997.hp1 NA18998.hp1 NA19003.hp2 NA19007.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19063.hp1 NA19068.hp2 NA19070.hp1 NA19080.hp2 NA19082.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0008 a0001c0001 a0003c0003 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0003c0003t0002 a0004c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0020 others(100): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0266 a0001c0001t0002g0003 a0001c0001t0002g0018 a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0003g0049 a0001c0001t0003g0052 a0001c0001t0003g0100 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0143 a0001c0001t0003g0199 a0001c0001t0003g0275 a0001c0001t0003g0278 a0001c0001t0004g0002 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0016 a0001c0001t0004g0035 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0102 a0001c0001t0005g0087 a0001c0001t0006g0048 a0001c0001t0012g0105 a0003c0003t0002g0080 a0004c0008t0001g0050	109	296	0.3682	13	c.-90 others(22): Show c.-900_-899insCCTGCCAGGCTCG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding		680		chr16	TogoVar
BEND3_chr6_107060182_107120515	107109442	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00423.hp1 others(74): Show HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01081.hp2 HG01099.hp2 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG02056.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03239.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03834.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18947.hp1 NA18952.hp2 NA18960.hp2 NA18961.hp2 NA18966.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18999.hp1 NA19012.hp2 NA19058.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19083.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0012 a0006c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(26): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0020 a0001c0001t0023 a0001c0001t0038 a0001c0001t0050 a0001c0001t0051 a0001c0002t0001 a0001c0002t0006 a0001c0003t0004 a0001c0003t0015 a0001c0004t0009 a0001c0004t0016 a0001c0004t0021 a0001c0004t0035 a0001c0004t0048 a0001c0004t0052 a0001c0005t0007 a0001c0007t0002 a0001c0012t0003 a0006c0011t0003	a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0002g0072 others(69): Show a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0002g0072 a0001c0001t0002g0086 a0001c0001t0002g0098 a0001c0001t0002g0112 a0001c0001t0002g0120 a0001c0001t0002g0146 a0001c0001t0002g0195 a0001c0001t0003g0036 a0001c0001t0003g0078 a0001c0001t0003g0087 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0119 a0001c0001t0003g0172 a0001c0001t0003g0188 a0001c0001t0004g0047 a0001c0001t0004g0067 a0001c0001t0004g0085 a0001c0001t0005g0006 a0001c0001t0005g0037 a0001c0001t0005g0121 a0001c0001t0005g0174 a0001c0001t0005g0184 a0001c0001t0005g0288 a0001c0001t0005g0309 a0001c0001t0008g0001 a0001c0001t0008g0092 a0001c0001t0010g0215 a0001c0001t0011g0347 a0001c0001t0011g0349 a0001c0001t0012g0093 a0001c0001t0013g0177 a0001c0001t0017g0099 a0001c0001t0020g0094 a0001c0001t0023g0110 a0001c0001t0038g0178 a0001c0001t0050g0069 a0001c0001t0051g0189 a0001c0002t0001g0012 a0001c0002t0001g0052 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0089 a0001c0002t0001g0115 a0001c0002t0001g0161 a0001c0002t0001g0205 a0001c0002t0006g0004 a0001c0002t0006g0077 a0001c0002t0006g0081 a0001c0003t0004g0048 a0001c0003t0004g0051 a0001c0003t0015g0147 a0001c0004t0009g0090 a0001c0004t0009g0173 a0001c0004t0009g0208 a0001c0004t0016g0088 a0001c0004t0016g0204 a0001c0004t0021g0044 a0001c0004t0021g0065 a0001c0004t0035g0039 a0001c0004t0048g0010 a0001c0004t0052g0097 a0001c0005t0007g0049 a0001c0005t0007g0062 a0001c0007t0002g0116 a0001c0012t0003g0060 a0006c0011t0003g0091	77	101	0.7624	13	c.-12 others(30): Show c.-12+5635_-12+5647dupTTTTTTTTTTTTT	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	1/3			chr6	TogoVar
BEND4_chr4_42105853_42157655	42123694	G G	GAAAAAAA others(6): Show GAAAAAAAAAAACA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp2 HG01109.hp2 others(1): Show HG00642.hp2 HG01069.hp2 HG01109.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0010 a0001c0001t0008g0083 a0001c0001t0008g0010 a0001c0001t0008g0083	4	180	0.0222	13	c.114 others(32): Show c.1146+1888_1146+1889insTGTTTTTTTTTTT	BEND4	ENSG00000188848.17	transcript	ENST00000502486.6	protein_coding	4/5			chr4	TogoVar
BEND4_chr4_42105853_42157655	42123703	A A	AAACAAAA others(6): Show AAACAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA19007.hp2 NA18993.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0147 a0001c0001t0008g0151 a0001c0001t0008g0147 a0001c0001t0008g0151	2	219	0.0091	13	c.114 others(32): Show c.1146+1879_1146+1880insGTTTTTTTTTGTT	BEND4	ENSG00000188848.17	transcript	ENST00000502486.6	protein_coding	4/5			chr4	TogoVar
BEND4_chr4_42105853_42157655	42138942	T T	TAGCTTAC others(6): Show TAGCTTACATCCAC	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0149 a0001c0001t0008g0149	1	224	0.0045	13	c.105 others(32): Show c.1054+4473_1054+4485dupGTGGATGTAAGCT	BEND4	ENSG00000188848.17	transcript	ENST00000502486.6	protein_coding	3/5			chr4	TogoVar
BEST3_chr12_69648609_69704303	69685029	C C	CTATTCTA others(6): Show CTATTCTATTCTAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0192 a0001c0001t0003g0192	1	360	0.0028	13	c.482 others(30): Show c.482-6137_482-6136insATAGAATAGAATA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BEST3_chr12_69648609_69704303	69686786	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp2 HG02735.hp2 others(6): Show HG01109.hp2 HG02258.hp2 HG02735.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03453.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0055 a0001c0001t0003g0185 others(5): Show a0001c0001t0003g0031 a0001c0001t0003g0055 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190	9	295	0.0305	13	c.481 others(30): Show c.481+6887_481+6888insCTTTTTTTTTTTT	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BFSP2_chr3_133395056_133480208	133422076	C C	CAGCCTGG others(6): Show CAGCCTGGCAACAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	274	0.0036	13	c.489 others(32): Show c.489+21508_489+21520dupCTGGCAACAAAGC	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425784	G G	GGAAGGGA others(6): Show GGAAGGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02717.hp2 others(9): Show HG01884.hp1 HG02109.hp1 HG02717.hp2 HG02818.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp2 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(9): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0133 a0001c0001t0001g0171 a0001c0001t0001g0182 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0269	12	273	0.0440	13	c.490 others(32): Show c.490-21531_490-21519dupAAGGGAAGGGAAG	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425785	G G	GAAAGGGA others(6): Show GAAAGGGAAAGGGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03516.hp1 HG03041.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0158 a0001c0001t0001g0006 a0001c0001t0001g0158	2	269	0.0074	13	c.490 others(32): Show c.490-21530_490-21529insAGGGAAAGGGAAA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BHLHA15_chr7_98206439_98220457	98217975	G G	GGACACGT others(6): Show GGACACGTGCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	454	0.0022	13	c.50 others(24): Show c.5096_*5097insGACACGTGCTCCC	BHLHA15	ENSG00000180535.4	transcript	ENST00000609256.2	protein_coding		2519		chr7	TogoVar
BHLHA9_chr17_1265444_1276815	1274218	G G	GTGAAGAA others(6): Show GTGAAGAAAAGATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	440	0.0023	13	c.29 others(24): Show c.2947_*2948insTGAAGAAAAGATT	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		2404		chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1275596	A A	AATGTGTG others(6): Show AATGTGTGTGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 NA19043.hp2 HG01891.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	2	418	0.0048	13	c.43 others(24): Show c.4325_*4326insATGTGTGTGGGGT	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		3782		chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1275871	T T	TCGAGCTA others(6): Show TCGAGCTAGCTCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	440	0.0023	13	c.46 others(24): Show c.4600_*4601insCGAGCTAGCTCAG	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		4057		chr17	TogoVar
BHLHE40_chr3_4974437_4990323	4983829	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0039 a0001c0003t0039	a0001c0003t0039g0006 a0001c0003t0039g0006	1	109	0.0092	13	c.13 others(22): Show c.137_*138insTGTGTGTGTGTGT	BHLHE40	ENSG00000134107.5	transcript	ENST00000256495.4	protein_coding	5/5	138		chr3	TogoVar
BICC1_chr10_58507872_58836435	58571370	A A	ATGCATAG others(6): Show ATGCATAGGTTTGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03098.hp1 HG00639.hp2 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0004 a0001c0001t0005 a0002c0002t0004	a0001c0001t0005g0014 a0002c0002t0004g0015 a0001c0001t0005g0014 a0002c0002t0004g0015	2	130	0.0154	13	c.191 others(32): Show c.191-49481_191-49480insTAGGTTTGTTGCA	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr10	TogoVar

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