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
BTBD10_chr11_13383008_13468222	13434794	A A	ACTGGTAG others(5): Show ACTGGTAGTGACT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	356	0.0028	12	c.101 others(31): Show c.101+10229_101+10230insAGTCACTACCAG	BTBD10	ENSG00000148925.11	transcript	ENST00000278174.10	protein_coding	2/8			chr11	TogoVar
BTBD16_chr10_122266296_122343159	122272678	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03098.hp1 HG02145.hp2 HG03098.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0001 a0006c0015t0001	a0006c0015t0001g0335 a0006c0015t0001g0336 a0006c0015t0001g0335 a0006c0015t0001g0336	2	382	0.0052	12	c.-43 others(29): Show c.-43+1182_-43+1193dupCACACACACACA	BTBD16	ENSG00000138152.10	transcript	ENST00000260723.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTBD16_chr10_122266296_122343159	122273221	G G	GATATATA others(5): Show GATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02074.hp1 HG02080.hp1 others(7): Show HG00408.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02273.hp1 HG02738.hp2 HG02896.hp1 HG03209.hp1 HG03834.hp1 NA18981.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0007 a0004c0005 others(1): Show a0001c0001 a0001c0007 a0004c0005 a0005c0004	a0001c0001t0001 a0001c0001t0004 a0001c0007t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0007t0001 a0004c0005t0004 a0005c0004t0001	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 others(6): Show a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0004g0095 a0001c0007t0001g0090 a0004c0005t0004g0094 a0005c0004t0001g0012	10	382	0.0262	12	c.-43 others(29): Show c.-43+1721_-43+1732dupTATATATATATA	BTBD16	ENSG00000138152.10	transcript	ENST00000260723.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTBD16_chr10_122266296_122343159	122273245	T T	TATATATA others(5): Show TATATATATATAC	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0086 a0005c0004t0001g0086	1	382	0.0026	12	c.-43 others(29): Show c.-43+1732_-43+1733insTATATATATACA	BTBD16	ENSG00000138152.10	transcript	ENST00000260723.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTBD16_chr10_122266296_122343159	122279511	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp2 others(42): Show HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00735.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01168.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02132.hp1 HG02135.hp1 HG02273.hp2 HG02293.hp1 HG02572.hp2 HG02683.hp2 HG02738.hp1 HG03017.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03834.hp2 HG04204.hp2 NA18943.hp2 NA18945.hp2 NA18956.hp2 NA18959.hp2 NA18964.hp2 NA18966.hp2 NA18988.hp2 NA18999.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0007	a0001c0001 a0001c0018 a0001c0028 others(5): Show a0001c0001 a0001c0018 a0001c0028 a0002c0002 a0003c0003 a0005c0004 a0006c0020 a0007c0006	a0001c0001t0001 a0001c0018t0001 a0001c0028t0001 others(5): Show a0001c0001t0001 a0001c0018t0001 a0001c0028t0001 a0002c0002t0001 a0003c0003t0001 a0005c0004t0001 a0006c0020t0001 a0007c0006t0001	a0001c0001t0001g0097 a0001c0001t0001g0198 a0001c0001t0001g0199 others(42): Show a0001c0001t0001g0097 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0001g0218 a0001c0001t0001g0275 a0001c0018t0001g0197 a0001c0028t0001g0164 a0002c0002t0001g0200 a0002c0002t0001g0204 a0002c0002t0001g0224 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0255 a0002c0002t0001g0264 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0274 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0294 a0003c0003t0001g0034 a0003c0003t0001g0035 a0003c0003t0001g0036 a0003c0003t0001g0037 a0003c0003t0001g0038 a0003c0003t0001g0039 a0005c0004t0001g0160 a0005c0004t0001g0201 a0005c0004t0001g0202 a0005c0004t0001g0203 a0005c0004t0001g0205 a0005c0004t0001g0206 a0005c0004t0001g0208 a0005c0004t0001g0223 a0006c0020t0001g0071 a0006c0020t0001g0265 a0007c0006t0001g0272 a0007c0006t0001g0273	45	382	0.1178	12	c.167 others(29): Show c.167+2596_167+2607dupCACACACACACA	BTBD16	ENSG00000138152.10	transcript	ENST00000260723.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTBD17_chr17_74351416_74366868	74362965	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 NA20129.hp1 HG00735.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0005	2	444	0.0045	12	c.-11 others(23): Show c.-1147_-1146insACACACACACAC	BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding		1098		chr17	TogoVar
BTBD17_chr17_74351416_74366868	74364473	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00733.hp1 others(27): Show HG00280.hp1 HG00408.hp2 HG00733.hp1 HG01069.hp2 HG01516.hp2 HG01993.hp1 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02258.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 NA18959.hp2 NA18960.hp1 NA18967.hp2 NA18968.hp1 NA18972.hp1 NA18984.hp2 NA19055.hp1 NA19074.hp1 NA19082.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0003 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0067 a0001c0001t0002g0002 a0001c0001t0003g0010 a0001c0001t0003g0086 a0001c0004t0003g0018 a0001c0004t0003g0064 a0002c0002t0001g0004 a0002c0002t0001g0015	30	444	0.0676	12	c.-26 others(23): Show c.-2655_-2654insACACACACACAC	BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding		2606		chr17	TogoVar
BTBD17_chr17_74351416_74366868	74365044	C C	CATATATA others(5): Show CATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG00733.hp1 others(35): Show HG00558.hp2 HG00609.hp1 HG00733.hp1 HG01168.hp2 HG01169.hp1 HG02004.hp2 HG02071.hp2 HG02080.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02818.hp1 HG02965.hp2 HG02970.hp1 HG03490.hp1 HG03831.hp2 HG04228.hp1 NA18906.hp1 NA18944.hp2 NA18949.hp1 NA18949.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18969.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA19004.hp2 NA19043.hp1 NA19087.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0008 a0006c0009 a0001c0001 a0005c0008 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0005c0008t0001 a0006c0009t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0085 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0030 a0005c0008t0001g0049 a0006c0009t0002g0079	38	444	0.0856	12	c.-32 others(23): Show c.-3226_-3225insATATATATATAT	BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding		3177		chr17	TogoVar
BTBD17_chr17_74351416_74366868	74365060	T T	TATTATAT others(5): Show TATTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	444	0.0023	12	c.-32 others(23): Show c.-3242_-3241insTATATATATAAT	BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding		3193		chr17	TogoVar
BTBD18_chr11_57738514_57756819	57756410	C C	CCACACAC others(5): Show CCACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0095 a0001c0006t0001g0095	1	354	0.0028	12	c.-49 others(23): Show c.-4930_-4919dupTGTGTGTGTGTG	BTBD18	ENSG00000233436.8	transcript	ENST00000422652.6	protein_coding		4592		chr11	TogoVar
BTBD19_chr1_44803523_44820585	44814148	C C	CTCTTTCT others(5): Show CTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG01109.hp1 HG01884.hp2 others(8): Show HG00544.hp2 HG01109.hp1 HG01884.hp2 HG01943.hp1 HG02258.hp2 HG03710.hp2 HG03942.hp1 HG06807.hp2 NA18952.hp2 NA18990.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0094 a0001c0001t0095 a0001c0001t0011 a0001c0001t0094 a0001c0001t0095	a0001c0001t0011g0002 a0001c0001t0011g0003 a0001c0001t0011g0004 others(6): Show a0001c0001t0011g0002 a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0011g0011 a0001c0001t0011g0012 a0001c0001t0011g0023 a0001c0001t0011g0095 a0001c0001t0094g0027 a0001c0001t0095g0016	11	436	0.0252	12	c.43 others(21): Show c.430_*441dupCTTTCTTTCTTT	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding	8/8	442	INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD19_chr1_44803523_44820585	44814152	T T	TTCTTTCT others(5): Show TTCTTTCTTTCTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0039 a0001c0001t0069g0039	1	436	0.0023	12	c.39 others(21): Show c.391_*392insGTCTTTCTTTCT	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding	8/8	392	INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD19_chr1_44803523_44820585	44814212	T T	TTCTTTTT others(5): Show TTCTTTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02486.hp2 others(2): Show HG02257.hp2 HG02258.hp1 HG02486.hp2 HG03130.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0077 a0001c0001t0078 a0001c0001t0028 a0001c0001t0077 a0001c0001t0078	a0001c0001t0028g0007 a0001c0001t0028g0091 a0001c0001t0077g0007 others(1): Show a0001c0001t0028g0007 a0001c0001t0028g0091 a0001c0001t0077g0007 a0001c0001t0078g0046	5	436	0.0115	12	c.44 others(21): Show c.441_*442insCTTTTTCTTTCT	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding	8/8	442	INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD19_chr1_44803523_44820585	44814224	C C	CTTTCTTT others(5): Show CTTTCTTTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp1 HG02965.hp1 HG03225.hp2 others(2): Show HG02809.hp1 HG02965.hp1 HG03225.hp2 HG04184.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0069 a0001c0001t0081 a0001c0001t0029 a0001c0001t0069 a0001c0001t0081	a0001c0001t0029g0007 a0001c0001t0069g0039 a0001c0001t0081g0068 a0001c0001t0029g0007 a0001c0001t0069g0039 a0001c0001t0081g0068	5	436	0.0115	12	c.45 others(21): Show c.453_*454insTTCTTTTTCTTT	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding	8/8	454	INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD19_chr1_44803523_44820585	44816291	A A	AACAGAGT others(5): Show AACAGAGTGAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0128 a0001c0001t0128	a0001c0001t0128g0006 a0001c0001t0128g0006	1	436	0.0023	12	c.25 others(23): Show c.2519_*2520insACAGAGTGAGAC	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		707		chr1	TogoVar
BTBD19_chr1_44803523_44820585	44816350	A A	ATATATAT others(5): Show ATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0007 a0001c0001t0029g0007	1	436	0.0023	12	c.25 others(23): Show c.2578_*2579insTATATATATATG	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		766		chr1	TogoVar
BTBD19_chr1_44803523_44820585	44816354	A A	ATATATAT others(5): Show ATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02896.hp1 others(3): Show HG01884.hp1 HG02055.hp1 HG02896.hp1 HG03098.hp2 HG03195.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0030 a0001c0001t0082 others(1): Show a0001c0001t0020 a0001c0001t0030 a0001c0001t0082 a0001c0001t0136	a0001c0001t0020g0007 a0001c0001t0030g0028 a0001c0001t0082g0007 others(1): Show a0001c0001t0020g0007 a0001c0001t0030g0028 a0001c0001t0082g0007 a0001c0001t0136g0007	6	436	0.0138	12	c.25 others(23): Show c.2582_*2583insTATATATATATG	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		770		chr1	TogoVar
BTBD19_chr1_44803523_44820585	44818843	A A	AAAACAAA others(5): Show AAAACAAACAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0017 a0001c0001t0049g0017	1	436	0.0023	12	c.50 others(23): Show c.5071_*5072insAAACAAACAAAC	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		3259		chr1	TogoVar
BTBD1_chr15_83011423_83072252	83021742	A A	AAATAATA others(5): Show AAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01099.hp2 HG01891.hp2 others(11): Show HG00140.hp2 HG01099.hp2 HG01891.hp2 HG02622.hp2 HG02818.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03486.hp1 NA18940.hp2 NA18943.hp2 NA19083.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0006t0002	a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0025 others(11): Show a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0106 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0005g0074 a0001c0001t0009g0028 a0001c0001t0012g0324 a0001c0006t0002g0062	14	328	0.0427	12	c.105 others(29): Show c.1056-992_1056-981dupATTATTATTATT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	5/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83021764	A A	AATAATAA others(5): Show AATAATAATAATG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	328	0.0031	12	c.105 others(31): Show c.1056-1003_1056-1002insCATTATTATTAT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	5/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83032969	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp1 HG03195.hp1 HG02451.hp2 HG02647.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0159	3	328	0.0092	12	c.863 others(29): Show c.863-2653_863-2642dupTTTTTTTTTTTT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	4/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83040699	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	328	0.0031	12	c.862 others(29): Show c.862+1017_862+1028dupTTTTTTTTTTTT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	4/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83042348	T T	TTTTATAT others(5): Show TTTTATATATTTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG01361.hp2 others(2): Show HG00639.hp1 HG00735.hp1 HG01361.hp2 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0111 others(2): Show a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0113	5	328	0.0152	12	c.665 others(27): Show c.665-424_665-423insTAAATATATAAA	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	3/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83050430	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01192.hp2 HG01106.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0051 a0001c0001t0002g0054	2	328	0.0061	12	c.559 others(27): Show c.559-264_559-253dupCACACACACACA	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83051875	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03195.hp1 HG06807.hp1 others(1): Show HG02809.hp2 HG03195.hp1 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 others(1): Show a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160	4	328	0.0122	12	c.559 others(29): Show c.559-1698_559-1697insGTGTGTGTGTGT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83051877	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01358.hp1 HG01891.hp1 others(10): Show HG00621.hp2 HG01358.hp1 HG01891.hp1 HG02683.hp1 HG02896.hp1 HG02897.hp1 HG03710.hp2 NA18953.hp2 NA18957.hp2 NA18963.hp2 NA19064.hp2 NA19066.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0001 a0001c0001t0002 a0001c0001t0012	a0001c0001t0001g0125 a0001c0001t0001g0179 a0001c0001t0001g0180 others(10): Show a0001c0001t0001g0125 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0293 a0001c0001t0001g0316 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0012g0324	13	328	0.0396	12	c.559 others(29): Show c.559-1711_559-1700dupGTGTGTGTGTGT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83051877	T T	TATACACA others(5): Show TATACACACACAC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02698.hp2 HG06807.hp2 HG02132.hp2 HG02698.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0002c0002t0003 a0001c0001t0001 a0001c0001t0006 a0002c0002t0003	a0001c0001t0001g0177 a0001c0001t0006g0104 a0002c0002t0003g0117 a0001c0001t0001g0177 a0001c0001t0006g0104 a0002c0002t0003g0117	3	328	0.0092	12	c.559 others(29): Show c.559-1700_559-1699insGTGTGTGTGTAT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7			chr15	TogoVar
BTBD2_chr19_1980448_2020714	2008589	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0005 a0004c0009t0005	a0004c0009t0005g0119 a0004c0009t0005g0119	1	364	0.0028	12	c.407 others(29): Show c.407+6696_407+6707dupAAAAAAAAAAAA	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	1/8			chr19	TogoVar
BTBD2_chr19_1980448_2020714	2015838	A A	AAGAAGAG others(5): Show AAGAAGAGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0019 a0019	a0019c0057 a0019c0057	a0019c0057t0002 a0019c0057t0002	a0019c0057t0002g0357 a0019c0057t0002g0357	1	364	0.0028	12	c.-13 others(21): Show c.-136_-135insCCCTCCTCTTCT	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding		125		chr19	TogoVar
BTBD6_chr14_105243533_105256093	105248556	G G	GGCGGGTG others(5): Show GGCGGGTGCGGGT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0002 a0001c0003t0022g0002	1	278	0.0036	12	c.-15 others(21): Show c.-150_-149insGCGGGTGCGGGT	BTBD6	ENSG00000184887.14	transcript	ENST00000392554.8	protein_coding	1/4	149	INFO_REALIGN_3_PRIME	chr14	TogoVar
BTBD6_chr14_105243533_105256093	105248576	G G	GGCGAGCG others(5): Show GGCGAGCGGGCGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0015 a0004c0008t0015	a0004c0008t0015g0001 a0004c0008t0015g0001	1	278	0.0036	12	c.-13 others(21): Show c.-133_-132insAGCGGGCGAGCG	BTBD6	ENSG00000184887.14	transcript	ENST00000392554.8	protein_coding	1/4	132	INFO_REALIGN_3_PRIME	chr14	TogoVar
BTBD7_chr14_93232550_93338036	93300704	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	375	0.0027	12	c.-10 others(31): Show c.-106-4559_-106-4548dupCACACACACACA	BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10			chr14	TogoVar
BTBD7_chr14_93232550_93338036	93300772	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0077 a0001c0001t0020g0077	1	375	0.0027	12	c.-10 others(31): Show c.-106-4616_-106-4615insTACACACACACA	BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10			chr14	TogoVar
BTBD7_chr14_93232550_93338036	93313679	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0239 a0001c0001t0003g0239	1	375	0.0027	12	c.-10 others(33): Show c.-106-17534_-106-17523dupGTGTGTGTGTGT	BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10			chr14	TogoVar
BTBD7_chr14_93232550_93338036	93324421	C C	CAAAAAAA others(5): Show CAAAAAAAAAATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18987.hp1 NA19065.hp1 others(1): Show HG00673.hp1 NA18987.hp1 NA19065.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0317 a0001c0001t0002g0334 others(1): Show a0001c0001t0002g0299 a0001c0001t0002g0317 a0001c0001t0002g0334 a0001c0001t0002g0335	4	375	0.0107	12	c.-10 others(31): Show c.-107+8398_-107+8399insTATTTTTTTTTT	BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10			chr14	TogoVar
BTBD7_chr14_93232550_93338036	93331889	C C	CCCCCCCC others(5): Show CCCCCCCCCCCCA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03098.hp2 NA18906.hp1 HG03041.hp2 HG03098.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0005g0165 a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0005g0165	3	375	0.0080	12	c.-10 others(29): Show c.-107+930_-107+931insTGGGGGGGGGGG	BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10			chr14	TogoVar
BTBD9_chr6_38163451_38644929	38163793	T T	TACACACA others(5): Show TACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0084 a0001c0001t0054g0084	1	224	0.0045	12	c.11 others(25): Show c.11191_*11192insGTGTGTGTGTGT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding		4657		chr6	TogoVar
BTBD9_chr6_38163451_38644929	38178844	C C	CTATTTAT others(5): Show CTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0090 a0001c0001t0063g0090	1	224	0.0045	12	c.164 others(31): Show c.1642-3674_1642-3663dupAATAAATAAATA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	10/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38205879	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01261.hp1 HG01433.hp1 others(6): Show HG01256.hp1 HG01261.hp1 HG01433.hp1 HG01952.hp2 HG02976.hp2 HG03139.hp1 HG03579.hp2 NA18977.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0017 a0001c0001t0045 others(6): Show a0001c0001t0012 a0001c0001t0017 a0001c0001t0045 a0001c0001t0058 a0001c0001t0066 a0001c0001t0074 a0001c0001t0081 a0001c0001t0085 a0001c0001t0142	a0001c0001t0012g0186 a0001c0001t0017g0004 a0001c0001t0045g0003 others(6): Show a0001c0001t0012g0186 a0001c0001t0017g0004 a0001c0001t0045g0003 a0001c0001t0058g0041 a0001c0001t0066g0077 a0001c0001t0074g0209 a0001c0001t0081g0124 a0001c0001t0085g0031 a0001c0001t0142g0002	9	224	0.0402	12	c.156 others(33): Show c.1563-13294_1563-13283dupTTTTTTTTTTTT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	9/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38210536	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03195.hp1 HG03209.hp2 others(3): Show HG02145.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 NA18906.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0024 a0001c0001t0140 a0001c0001t0004 a0001c0001t0024 a0001c0001t0140	a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0092 others(3): Show a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0092 a0001c0001t0004g0125 a0001c0001t0024g0086 a0001c0001t0140g0155	6	224	0.0268	12	c.156 others(33): Show c.1563-17951_1563-17940dupCACACACACACA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	9/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38266605	G G	GGAAAGAA others(5): Show GGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0183 a0002c0004t0183	a0002c0004t0183g0008 a0002c0004t0183g0008	1	224	0.0045	12	c.145 others(33): Show c.1455-10101_1455-10090dupTTTCTTTCTTTC	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	8/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38302485	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp1 HG02155.hp1 others(8): Show HG00438.hp1 HG00741.hp1 HG02155.hp1 HG03209.hp1 NA18953.hp2 NA18962.hp1 NA18970.hp1 NA18975.hp2 NA19004.hp1 NA19005.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0042 others(8): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0042 a0001c0001t0076 a0001c0001t0113 a0001c0001t0116 a0001c0001t0117 a0001c0001t0143 a0001c0001t0155 a0001c0001t0162 a0001c0001t0186	a0001c0001t0003g0056 a0001c0001t0005g0169 a0001c0001t0042g0121 others(8): Show a0001c0001t0003g0056 a0001c0001t0005g0169 a0001c0001t0042g0121 a0001c0001t0076g0154 a0001c0001t0113g0211 a0001c0001t0116g0161 a0001c0001t0117g0157 a0001c0001t0143g0043 a0001c0001t0155g0166 a0001c0001t0162g0132 a0001c0001t0186g0224	11	224	0.0491	12	c.126 others(33): Show c.1265-14036_1265-14025dupTATATATATATA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38302487	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0179 a0001c0001t0179	a0001c0001t0179g0167 a0001c0001t0179g0167	1	224	0.0045	12	c.126 others(33): Show c.1265-14027_1265-14026insCACACACACACA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38303840	G G	GATATATA others(5): Show GATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA19056.hp1 HG01256.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0058 a0001c0001t0006 a0001c0001t0058	a0001c0001t0006g0130 a0001c0001t0058g0041 a0001c0001t0006g0130 a0001c0001t0058g0041	2	224	0.0089	12	c.126 others(33): Show c.1265-15391_1265-15380dupATATATATATAT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38303874	T T	TATATATA others(5): Show TATATATATACAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03139.hp1 HG02886.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0182 a0001c0001t0081 a0001c0001t0182	a0001c0001t0081g0124 a0001c0001t0182g0095 a0001c0001t0081g0124 a0001c0001t0182g0095	2	224	0.0089	12	c.126 others(33): Show c.1265-15414_1265-15413insGTGTATATATAT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38303874	T T	TATATATA others(5): Show TATATATATATAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01975.hp2 HG02300.hp1 others(3): Show HG01071.hp1 HG01975.hp2 HG02300.hp1 HG03834.hp2 NA19002.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0011 a0001c0001t0026 a0001c0001t0105 others(3): Show a0001c0001t0011 a0001c0001t0026 a0001c0001t0105 a0001c0001t0145 a0001c0001t0150 a0003c0003t0051	a0001c0001t0011g0193 a0001c0001t0026g0195 a0001c0001t0105g0035 others(3): Show a0001c0001t0011g0193 a0001c0001t0026g0195 a0001c0001t0105g0035 a0001c0001t0145g0200 a0001c0001t0150g0215 a0003c0003t0051g0070	6	224	0.0268	12	c.126 others(33): Show c.1265-15414_1265-15413insGTATATATATAT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38328564	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01975.hp1 HG02109.hp2 others(11): Show HG00438.hp2 HG01975.hp1 HG02109.hp2 HG02129.hp2 HG02293.hp1 HG02559.hp2 HG02922.hp1 HG02970.hp1 NA18906.hp2 NA18975.hp1 NA18977.hp1 NA19007.hp1 NA19066.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0053 a0001c0001t0072 others(11): Show a0001c0001t0004 a0001c0001t0053 a0001c0001t0072 a0001c0001t0078 a0001c0001t0083 a0001c0001t0086 a0001c0001t0087 a0001c0001t0102 a0001c0001t0121 a0001c0001t0131 a0001c0001t0140 a0001c0001t0141 a0001c0001t0147 a0001c0001t0176	a0001c0001t0004g0075 a0001c0001t0053g0151 a0001c0001t0072g0011 others(11): Show a0001c0001t0004g0075 a0001c0001t0053g0151 a0001c0001t0072g0011 a0001c0001t0078g0082 a0001c0001t0083g0136 a0001c0001t0086g0217 a0001c0001t0087g0083 a0001c0001t0102g0007 a0001c0001t0121g0115 a0001c0001t0131g0107 a0001c0001t0140g0155 a0001c0001t0141g0148 a0001c0001t0147g0010 a0001c0001t0176g0138	14	224	0.0625	12	c.126 others(33): Show c.1264+16408_1264+16419dupACACACACACAC	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38328968	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0082 a0001c0001t0078g0082	1	224	0.0045	12	c.126 others(33): Show c.1264+16004_1264+16015dupCACACACACACA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38374286	T T	TATATATA others(5): Show TATATATATATAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02280.hp1 HG00558.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0125 a0001c0001t0173 a0001c0001t0125 a0001c0001t0173	a0001c0001t0125g0029 a0001c0001t0173g0176 a0001c0001t0125g0029 a0001c0001t0173g0176	2	224	0.0089	12	c.115 others(33): Show c.1155-29194_1155-29193insGTATATATATAT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38374288	T T	TATATATA others(5): Show TATATATATACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0124 a0001c0001t0081g0124	1	224	0.0045	12	c.115 others(33): Show c.1155-29196_1155-29195insGTGTATATATAT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar

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