Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BSPRY_chr9_113344541_113376222	113352480	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(79): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp1 HG02015.hp2 HG02040.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02300.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02735.hp2 HG02809.hp2 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03490.hp1 HG03669.hp2 HG03688.hp2 HG04115.hp1 HG04228.hp2 NA18747.hp1 NA18941.hp1 NA18944.hp1 NA18948.hp1 NA18951.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18992.hp1 NA18993.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp2 NA19056.hp1 NA19067.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19087.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0003 a0003c0008 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0016 a0001c0002t0018 a0001c0002t0033 a0001c0005t0004 a0001c0007t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0006 a0002c0003t0007 a0002c0003t0008 a0002c0003t0010 a0003c0008t0003 a0003c0008t0016 a0005c0015t0010	a0001c0001t0001g0046 a0001c0001t0001g0215 a0001c0001t0002g0004 others(64): Show a0001c0001t0001g0046 a0001c0001t0001g0215 a0001c0001t0002g0004 a0001c0001t0004g0060 a0001c0001t0004g0300 a0001c0001t0005g0259 a0001c0001t0005g0273 a0001c0001t0008g0294 a0001c0001t0021g0258 a0001c0002t0001g0196 a0001c0002t0001g0214 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0220 a0001c0002t0001g0295 a0001c0002t0002g0023 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0252 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0257 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0265 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0272 a0001c0002t0003g0274 a0001c0002t0004g0197 a0001c0002t0005g0021 a0001c0002t0005g0253 a0001c0002t0006g0304 a0001c0002t0007g0263 a0001c0002t0007g0266 a0001c0002t0010g0021 a0001c0002t0010g0219 a0001c0002t0016g0264 a0001c0002t0018g0021 a0001c0002t0018g0047 a0001c0002t0033g0222 a0001c0005t0004g0013 a0001c0005t0004g0221 a0001c0007t0003g0056 a0001c0007t0003g0267 a0001c0007t0003g0268 a0001c0007t0003g0269 a0002c0003t0001g0059 a0002c0003t0002g0293 a0002c0003t0002g0301 a0002c0003t0002g0302 a0002c0003t0005g0297 a0002c0003t0005g0303 a0002c0003t0006g0004 a0002c0003t0006g0059 a0002c0003t0006g0296 a0002c0003t0007g0004 a0002c0003t0008g0298 a0002c0003t0010g0299 a0003c0008t0003g0260 a0003c0008t0016g0256 a0005c0015t0010g0047	82	448	0.1830	14	c.202 others(31): Show c.202-1750_202-1737dupCACACACACACACA	BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
BSPRY_chr9_113344541_113376222	113362174	G G	GGTGGGTG others(7): Show GGTGGGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18972.hp2 NA18984.hp1 others(3): Show NA18967.hp1 NA18972.hp2 NA18984.hp1 NA18985.hp2 NA19056.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0003 a0001c0002t0007 a0001c0007t0003 a0001c0002t0003 a0001c0002t0007 a0001c0007t0003	a0001c0002t0003g0056 a0001c0002t0003g0257 a0001c0002t0003g0265 others(3): Show a0001c0002t0003g0056 a0001c0002t0003g0257 a0001c0002t0003g0265 a0001c0002t0007g0266 a0001c0007t0003g0056 a0001c0007t0003g0267	6	448	0.0134	14	c.532 others(29): Show c.532-192_532-191insGGTGTGTGTGTGTG	BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
BST1_chr4_15698065_15737787	15698713	G G	GTATATAT others(7): Show GTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01952.hp2 HG02145.hp2 others(8): Show HG01943.hp2 HG01952.hp2 HG02145.hp2 HG03195.hp2 HG03834.hp1 NA18982.hp1 NA18985.hp2 NA18988.hp1 NA19054.hp1 NA19060.hp1 NA19088.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0007 others(2): Show a0001c0001 a0002c0002 a0002c0007 a0003c0003 a0003c0009	a0001c0001t0001 a0002c0002t0001 a0002c0007t0002 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0007t0002 a0003c0003t0002 a0003c0009t0001	a0001c0001t0001g0212 a0001c0001t0001g0271 a0002c0002t0001g0034 others(8): Show a0001c0001t0001g0212 a0001c0001t0001g0271 a0002c0002t0001g0034 a0002c0002t0001g0170 a0002c0002t0001g0181 a0002c0002t0001g0184 a0002c0007t0002g0014 a0003c0003t0002g0077 a0003c0003t0002g0092 a0003c0009t0001g0058 a0003c0009t0001g0095	11	442	0.0249	14	c.-44 others(25): Show c.-4432_-4431insTATATATATATATA	BST1	ENSG00000109743.11	transcript	ENST00000265016.9	protein_coding		4351		chr4	TogoVar
BST1_chr4_15698065_15737787	15707855	C C	CTCTCTCT others(7): Show CTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	442	0.0023	14	c.451 others(29): Show c.451+210_451+211insCTCTCTCTCTATAT	BST1	ENSG00000109743.11	transcript	ENST00000265016.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
BST2_chr19_17397939_17410630	17410496	T T	TTATATAT others(7): Show TTATATATGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	412	0.0024	14	c.-49 others(25): Show c.-4922_-4921insTATATACATATATA	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4867		chr19	TogoVar
BST2_chr19_17397939_17410630	17410497	C C	CATATATA others(7): Show CATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01074.hp1 HG02273.hp1 others(3): Show HG00408.hp2 HG01074.hp1 HG02273.hp1 NA18956.hp1 NA19001.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0006g0024 a0001c0001t0001g0001 a0001c0001t0006g0024	6	412	0.0146	14	c.-49 others(25): Show c.-4936_-4923dupATATATATATATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4868		chr19	TogoVar
BST2_chr19_17397939_17410630	17410512	A A	ATATATAT others(7): Show ATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 NA19081.hp1 HG00609.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	412	0.0049	14	c.-49 others(25): Show c.-4938_-4937insAATATATATATATA	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4883		chr19	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATATA others(7): Show TATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG02602.hp2 HG02976.hp1 others(6): Show HG01978.hp2 HG02602.hp2 HG02976.hp1 NA18906.hp2 NA18950.hp2 NA18963.hp2 NA18964.hp2 NA19007.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0006g0014 a0001c0001t0001g0001 a0001c0001t0006g0014	9	412	0.0218	14	c.-49 others(25): Show c.-4955_-4954insGTATATATATATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4900		chr19	TogoVar
BST2_chr19_17397939_17410630	17410575	T T	TACATATA others(7): Show TACATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02615.hp1 HG02622.hp2 others(8): Show HG02257.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02895.hp2 HG03225.hp1 HG03453.hp1 HG04204.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0005g0008 a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0005g0008	11	412	0.0267	14	c.-50 others(25): Show c.-5001_-5000insGTGTATATATATGT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4946		chr19	TogoVar
BSX_chr11_122972570_122986834	122975154	T T	TACACACA others(7): Show TACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00597.hp2 others(24): Show HG00323.hp1 HG00323.hp2 HG00597.hp2 HG00733.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01243.hp1 HG01346.hp2 HG01515.hp1 HG01884.hp1 HG02145.hp2 HG02148.hp1 HG02683.hp2 HG03041.hp2 HG03098.hp1 HG03490.hp2 HG03491.hp2 HG03654.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG06807.hp1 NA18906.hp2 NA18986.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0015 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0074	27	422	0.0640	14	c.24 others(25): Show c.2494_*2495insGTGTGTGTGTGTGT	BSX	ENSG00000188909.5	transcript	ENST00000343035.3	protein_coding		2415		chr11	TogoVar
BSX_chr11_122972570_122986834	122983523	G G	GAAAGAAA others(7): Show GAAAGAAAGAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	422	0.0024	14	c.-18 others(25): Show c.-1853_-1852insTCTTTTCTTTCTTT	BSX	ENSG00000188909.5	transcript	ENST00000343035.3	protein_coding		1690		chr11	TogoVar
BTAF1_chr10_91918770_92036437	91925516	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18992.hp1 HG02523.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0179 a0001c0001t0006g0178 a0001c0001t0003g0179 a0001c0001t0006g0178	2	330	0.0061	14	c.14+ others(29): Show c.14+1439_14+1440insTTTTTTTTTTTTTT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	91991797	G G	GTGTATAT others(7): Show GTGTATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	330	0.0030	14	c.285 others(31): Show c.2855-321_2855-320insGTATATATATATAT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92004687	T T	TCTTAAAC others(7): Show TCTTAAACTCCTGGG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	330	0.0030	14	c.366 others(33): Show c.3661-3433_3661-3420dupTAAACTCCTGGGCT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	25/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92032009	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02486.hp2 HG02615.hp1 others(8): Show HG01109.hp2 HG02486.hp2 HG02615.hp1 HG02717.hp2 HG02970.hp2 HG03195.hp1 NA18944.hp2 NA18963.hp1 NA18978.hp1 NA18985.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0010 a0001c0001 a0001c0004 a0001c0010	a0001c0001t0001 a0001c0004t0001 a0001c0010t0001 a0001c0001t0001 a0001c0004t0001 a0001c0010t0001	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0016 others(8): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0074 a0001c0001t0001g0119 a0001c0004t0001g0046 a0001c0010t0001g0002	11	330	0.0333	14	c.30 others(25): Show c.3076_*3077insTTTTTTTTTTTTTT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding		573		chr10	TogoVar
BTBD10_chr11_13383008_13468222	13406560	T T	TGAGAGAG others(7): Show TGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18522.hp1 HG02976.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0241 a0001c0003t0002g0242 a0001c0003t0002g0241 a0001c0003t0002g0242	2	356	0.0056	14	c.809 others(29): Show c.809-718_809-705dupTCTCTCTCTCTCTC	BTBD10	ENSG00000148925.11	transcript	ENST00000278174.10	protein_coding	6/8			chr11	TogoVar
BTBD10_chr11_13383008_13468222	13430974	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02735.hp1 HG02735.hp2 others(3): Show HG00621.hp2 HG02735.hp1 HG02735.hp2 HG03669.hp2 NA18948.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0124 others(3): Show a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0124 a0001c0001t0001g0221 a0001c0002t0002g0262 a0001c0002t0002g0266	6	356	0.0169	14	c.102 others(31): Show c.102-9150_102-9137dupGTGTGTGTGTGTGT	BTBD10	ENSG00000148925.11	transcript	ENST00000278174.10	protein_coding	2/8			chr11	TogoVar
BTBD10_chr11_13383008_13468222	13430974	T T	TATACACA others(7): Show TATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0074 a0002c0004t0001g0074	1	356	0.0028	14	c.102 others(31): Show c.102-9137_102-9136insGTGTGTGTGTGTAT	BTBD10	ENSG00000148925.11	transcript	ENST00000278174.10	protein_coding	2/8			chr11	TogoVar
BTBD16_chr10_122266296_122343159	122272678	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp1 HG01516.hp1 others(9): Show HG00639.hp2 HG00741.hp1 HG01516.hp1 HG01517.hp2 HG02615.hp2 HG02647.hp1 HG02895.hp1 HG02976.hp1 HG03516.hp1 HG04115.hp2 HG04184.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0016 a0004c0005 a0001c0001 a0001c0016 a0004c0005	a0001c0001t0001 a0001c0016t0001 a0004c0005t0001 a0001c0001t0001 a0001c0016t0001 a0004c0005t0001	a0001c0001t0001g0323 a0001c0016t0001g0321 a0004c0005t0001g0024 others(8): Show a0001c0001t0001g0323 a0001c0016t0001g0321 a0004c0005t0001g0024 a0004c0005t0001g0322 a0004c0005t0001g0324 a0004c0005t0001g0325 a0004c0005t0001g0326 a0004c0005t0001g0327 a0004c0005t0001g0328 a0004c0005t0001g0329 a0004c0005t0001g0330	12	382	0.0314	14	c.-43 others(31): Show c.-43+1180_-43+1193dupCACACACACACACA	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(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG01346.hp2 others(15): Show HG00423.hp1 HG00673.hp1 HG01346.hp2 HG02071.hp1 HG02165.hp1 HG02647.hp2 HG02818.hp1 HG03098.hp2 HG03130.hp2 NA18944.hp2 NA18971.hp2 NA18972.hp1 NA18978.hp1 NA18991.hp2 NA18999.hp2 NA19074.hp2 NA19077.hp1 NA19081.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0007 a0011 a0015	a0001c0001 a0001c0007 a0001c0018 others(7): Show a0001c0001 a0001c0007 a0001c0018 a0001c0031 a0002c0002 a0004c0012 a0005c0004 a0007c0006 a0011c0027 a0015c0022	a0001c0001t0001 a0001c0007t0001 a0001c0018t0001 others(7): Show a0001c0001t0001 a0001c0007t0001 a0001c0018t0001 a0001c0031t0001 a0002c0002t0001 a0004c0012t0001 a0005c0004t0001 a0007c0006t0001 a0011c0027t0001 a0015c0022t0001	a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0102 others(15): Show a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0007t0001g0101 a0001c0007t0001g0105 a0001c0007t0001g0109 a0001c0007t0001g0110 a0001c0018t0001g0103 a0001c0031t0001g0104 a0002c0002t0001g0096 a0004c0012t0001g0076 a0004c0012t0001g0077 a0004c0012t0001g0108 a0005c0004t0001g0098 a0007c0006t0001g0075 a0007c0006t0001g0106 a0011c0027t0001g0107 a0015c0022t0001g0099	18	382	0.0471	14	c.-43 others(31): Show c.-43+1719_-43+1732dupTATATATATATATA	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(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00609.hp2 others(30): Show HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00733.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01256.hp2 HG01258.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG02155.hp1 HG02486.hp2 HG02698.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18939.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp2 NA18991.hp1 NA18994.hp2 NA19003.hp2 NA19060.hp1 NA19063.hp2 NA19066.hp1 NA19084.hp2 NA19091.hp1 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0012	a0001c0001 a0002c0002 a0003c0011 others(3): Show a0001c0001 a0002c0002 a0003c0011 a0004c0029 a0005c0004 a0012c0030	a0001c0001t0001 a0002c0002t0001 a0003c0011t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0003c0011t0001 a0004c0029t0001 a0005c0004t0001 a0012c0030t0001	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0169 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0169 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0001t0001g0262 a0002c0002t0001g0246 a0002c0002t0001g0254 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0263 a0003c0011t0001g0033 a0004c0029t0001g0193 a0005c0004t0001g0018 a0005c0004t0001g0165 a0005c0004t0001g0195 a0005c0004t0001g0221 a0005c0004t0001g0222 a0005c0004t0001g0228 a0005c0004t0001g0234 a0005c0004t0001g0239 a0005c0004t0001g0240 a0012c0030t0001g0237	33	382	0.0864	14	c.167 others(31): Show c.167+2594_167+2607dupCACACACACACACA	BTBD16	ENSG00000138152.10	transcript	ENST00000260723.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTBD17_chr17_74351416_74366868	74364473	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00609.hp2 HG00639.hp1 others(48): Show HG00099.hp2 HG00609.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01891.hp2 HG01993.hp2 HG02040.hp1 HG02074.hp2 HG02109.hp2 HG02155.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02698.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02976.hp1 HG03017.hp1 HG03130.hp2 HG03490.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04228.hp1 HG04228.hp2 NA18942.hp2 NA18948.hp2 NA18953.hp1 NA19043.hp2 NA19063.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0003 a0002c0002t0001 a0006c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0020 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0046 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0002g0002 a0001c0001t0002g0069 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0060 a0001c0004t0003g0018 a0002c0002t0001g0004 a0002c0002t0001g0012 a0006c0008t0001g0049	51	444	0.1149	14	c.-26 others(25): Show c.-2655_-2654insACACACACACACAC	BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding		2606		chr17	TogoVar
BTBD17_chr17_74351416_74366868	74365044	C C	CATATATA others(7): Show CATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00733.hp2 HG00735.hp1 others(38): Show HG00597.hp1 HG00733.hp2 HG00735.hp1 HG01168.hp1 HG01256.hp2 HG01361.hp1 HG01361.hp2 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02135.hp1 HG02273.hp1 HG02451.hp2 HG02622.hp2 HG02735.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG04199.hp1 HG04204.hp1 NA18942.hp2 NA18945.hp1 NA18953.hp1 NA18967.hp1 NA18973.hp1 NA18979.hp2 NA19002.hp1 NA19057.hp1 NA19063.hp1 NA19065.hp2 NA19074.hp1 NA19079.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0011 others(1): Show a0001c0001 a0001c0004 a0001c0011 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0003 a0001c0011t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0002g0002 a0001c0001t0002g0028 a0001c0001t0003g0017 a0001c0001t0003g0029 a0001c0001t0003g0062 a0001c0004t0003g0018 a0001c0004t0003g0064 a0001c0011t0001g0053 a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0015	41	444	0.0923	14	c.-32 others(25): Show c.-3226_-3225insATATATATATATAT	BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding		3177		chr17	TogoVar
BTBD17_chr17_74351416_74366868	74365064	T T	TATATATA others(7): Show TATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG03041.hp2 HG00741.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0032 a0001c0001t0002g0008 a0001c0001t0002g0032	2	444	0.0045	14	c.-32 others(25): Show c.-3246_-3245insGTATATATATATAT	BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding		3197		chr17	TogoVar
BTBD19_chr1_44803523_44820585	44811014	G G	GTTCCAGA others(7): Show GTTCCAGACCAGCCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0063 a0001c0001t0007g0063	1	436	0.0023	14	c.354 others(29): Show c.354+408_354+421dupTTCCAGACCAGCCT	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD19_chr1_44803523_44820585	44814158	C C	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0124 a0001c0001t0124	a0001c0001t0124g0009 a0001c0001t0124g0009	1	436	0.0023	14	c.38 others(23): Show c.388_*401dupTTCTTTCTTTCTTT	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding	8/8	402	INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD19_chr1_44803523_44820585	44814190	C C	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0016 a0001c0001t0117g0016	1	436	0.0023	14	c.42 others(23): Show c.420_*433dupTTCTTTCTTTCTTT	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding	8/8	434	INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD19_chr1_44803523_44820585	44814212	T T	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0058 a0004c0007t0058	a0004c0007t0058g0070 a0004c0007t0058g0070	1	436	0.0023	14	c.44 others(23): Show c.441_*442insCTTTCTTTCTTTCT	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding	8/8	442	INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD19_chr1_44803523_44820585	44816350	A A	ATATATAT others(7): Show ATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp2 HG02886.hp1 others(2): Show HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02976.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 others(2): Show a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0042 a0001c0001t0075	a0001c0001t0027g0007 a0001c0001t0028g0091 a0001c0001t0029g0007 others(2): Show a0001c0001t0027g0007 a0001c0001t0028g0091 a0001c0001t0029g0007 a0001c0001t0042g0007 a0001c0001t0075g0007	5	436	0.0115	14	c.25 others(25): Show c.2578_*2579insTATATATATATATG	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		766		chr1	TogoVar
BTBD1_chr15_83011423_83072252	83050430	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	328	0.0031	14	c.559 others(29): Show c.559-266_559-253dupCACACACACACACA	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83051875	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG02027.hp1 others(5): Show HG00558.hp1 HG00597.hp2 HG02027.hp1 HG02027.hp2 NA18952.hp1 NA18953.hp1 NA18961.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0219 a0001c0001t0001g0281 others(5): Show a0001c0001t0001g0123 a0001c0001t0001g0219 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0295	8	328	0.0244	14	c.559 others(31): Show c.559-1698_559-1697insGTGTGTGTGTGTGT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83051877	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(84): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00733.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01175.hp2 HG01261.hp2 HG01346.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp2 HG02280.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp2 HG03704.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18943.hp1 NA18945.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18960.hp1 NA18967.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp2 NA19000.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19081.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0005 a0001c0001 a0001c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0001t0019 a0001c0001t0021 a0001c0003t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0127 others(81): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0323 a0001c0001t0002g0054 a0001c0001t0010g0195 a0001c0001t0010g0196 a0001c0001t0010g0197 a0001c0001t0013g0320 a0001c0001t0013g0321 a0001c0001t0019g0193 a0001c0001t0021g0267 a0001c0003t0001g0122 a0004c0005t0001g0325	87	328	0.2652	14	c.559 others(31): Show c.559-1713_559-1700dupGTGTGTGTGTGTGT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83051877	T T	TATACACA others(7): Show TATACACACACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02040.hp1 HG02717.hp2 others(3): Show HG01346.hp2 HG02040.hp1 HG02717.hp2 HG02886.hp1 HG03017.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0002c0002t0003	a0001c0001t0001g0178 a0001c0001t0003g0101 a0001c0001t0004g0009 others(3): Show a0001c0001t0001g0178 a0001c0001t0003g0101 a0001c0001t0004g0009 a0001c0001t0015g0075 a0002c0002t0003g0119 a0002c0002t0003g0120	6	328	0.0183	14	c.559 others(31): Show c.559-1700_559-1699insGTGTGTGTGTGTAT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83051903	C C	CACACACA others(7): Show CACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	328	0.0031	14	c.559 others(31): Show c.559-1726_559-1725insATGTGTGTGTGTGT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7			chr15	TogoVar
BTBD2_chr19_1980448_2020714	2008589	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0333 a0001c0036t0001g0333	1	364	0.0028	14	c.407 others(31): Show c.407+6694_407+6707dupAAAAAAAAAAAAAA	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	1/8			chr19	TogoVar
BTBD2_chr19_1980448_2020714	2017817	A A	ATATATAT others(7): Show ATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 NA18522.hp1 HG02559.hp1 NA18522.hp1	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0002 a0003c0006t0002 a0003c0004t0002 a0003c0006t0002	a0003c0004t0002g0144 a0003c0006t0002g0140 a0003c0004t0002g0144 a0003c0006t0002g0140	2	364	0.0055	14	c.-21 others(25): Show c.-2115_-2114insAATATATATATATA	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding		2104		chr19	TogoVar
BTBD7_chr14_93232550_93338036	93287228	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01081.hp1 HG01255.hp2 others(14): Show HG00438.hp1 HG01081.hp1 HG01255.hp2 HG02109.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02809.hp2 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0005 a0001c0001t0028 a0002c0002t0019 others(3): Show a0001c0001t0005 a0001c0001t0028 a0002c0002t0019 a0002c0002t0031 a0002c0002t0052 a0003c0003t0055	a0001c0001t0005g0150 a0001c0001t0005g0157 a0001c0001t0005g0158 others(14): Show a0001c0001t0005g0150 a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0005g0159 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0005g0165 a0001c0001t0028g0167 a0002c0002t0019g0154 a0002c0002t0019g0155 a0002c0002t0019g0156 a0002c0002t0031g0151 a0002c0002t0052g0128 a0003c0003t0055g0131	17	375	0.0453	14	c.116 others(33): Show c.1162+6629_1162+6630insTTTTTTTTTTTTTT	BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	3/10			chr14	TogoVar
BTBD7_chr14_93232550_93338036	93324421	C C	CAAAAAAA others(7): Show CAAAAAAAAAATAAA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18993.hp2 NA19062.hp1 NA18967.hp2 NA18993.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0352 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0352	3	375	0.0080	14	c.-10 others(33): Show c.-107+8398_-107+8399insTTTATTTTTTTTTT	BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10			chr14	TogoVar
BTBD7_chr14_93232550_93338036	93324425	A A	AAAAAAAT others(7): Show AAAAAAATAAAAAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02818.hp2 HG02886.hp1 others(4): Show HG02257.hp2 HG02818.hp2 HG02886.hp1 HG02970.hp1 HG06807.hp1 NA18522.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0051 a0002c0002t0053 a0002c0002t0010 a0002c0002t0051 a0002c0002t0053	a0002c0002t0010g0258 a0002c0002t0010g0260 a0002c0002t0010g0261 others(4): Show a0002c0002t0010g0258 a0002c0002t0010g0260 a0002c0002t0010g0261 a0002c0002t0010g0262 a0002c0002t0010g0263 a0002c0002t0051g0259 a0002c0002t0053g0257	7	375	0.0187	14	c.-10 others(33): Show c.-107+8394_-107+8395insATTTTTTATTTTTT	BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10			chr14	TogoVar
BTBD8_chr1_92075345_92189723	92144810	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0019 a0001c0003t0004g0019	1	158	0.0063	14	c.931 others(31): Show c.931-2351_931-2338dupACACACACACACAC	BTBD8	ENSG00000189195.15	transcript	ENST00000636805.2	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD8_chr1_92075345_92189723	92175477	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0027 a0011c0015t0001g0027	1	158	0.0063	14	c.163 others(33): Show c.1636-1343_1636-1330dupAAAAAAAAAAAAAA	BTBD8	ENSG00000189195.15	transcript	ENST00000636805.2	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD9_chr6_38163451_38644929	38163793	T T	TACACACA others(7): Show TACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01255.hp1 HG01884.hp1 others(5): Show HG01175.hp1 HG01255.hp1 HG01884.hp1 HG02280.hp1 HG02280.hp2 HG02886.hp1 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0040 others(4): Show a0001c0001t0001 a0001c0001t0023 a0001c0001t0040 a0001c0001t0170 a0001c0001t0171 a0001c0001t0173 a0001c0001t0178	a0001c0001t0001g0221 a0001c0001t0023g0208 a0001c0001t0023g0222 others(5): Show a0001c0001t0001g0221 a0001c0001t0023g0208 a0001c0001t0023g0222 a0001c0001t0040g0196 a0001c0001t0170g0178 a0001c0001t0171g0188 a0001c0001t0173g0176 a0001c0001t0178g0071	8	224	0.0357	14	c.11 others(27): Show c.11191_*11192insGTGTGTGTGTGTGT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding		4657		chr6	TogoVar
BTBD9_chr6_38163451_38644929	38205879	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19030.hp2 HG03540.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0172 a0001c0001t0075 a0001c0001t0172	a0001c0001t0075g0185 a0001c0001t0172g0175 a0001c0001t0075g0185 a0001c0001t0172g0175	2	224	0.0089	14	c.156 others(35): Show c.1563-13283_1563-13282insTTTTTTTTTTTTTT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	9/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38302485	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01071.hp2 HG02015.hp2 others(8): Show HG00558.hp1 HG01071.hp2 HG02015.hp2 HG02572.hp2 HG03490.hp1 HG03490.hp2 NA18964.hp2 NA19005.hp1 NA19010.hp2 NA19056.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(8): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0031 a0001c0001t0046 a0001c0001t0077 a0001c0001t0103 a0001c0001t0126 a0001c0001t0144 a0001c0001t0153 a0001c0001t0158	a0001c0001t0002g0058 a0001c0001t0006g0130 a0001c0001t0009g0019 others(8): Show a0001c0001t0002g0058 a0001c0001t0006g0130 a0001c0001t0009g0019 a0001c0001t0031g0153 a0001c0001t0046g0119 a0001c0001t0077g0061 a0001c0001t0103g0014 a0001c0001t0126g0059 a0001c0001t0144g0042 a0001c0001t0153g0210 a0001c0001t0158g0146	11	224	0.0491	14	c.126 others(35): Show c.1265-14038_1265-14025dupTATATATATATATA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38302485	G G	GTATGTGT others(7): Show GTATGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp1 HG02258.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0112 a0001c0001t0013 a0001c0001t0112	a0001c0001t0013g0094 a0001c0001t0112g0126 a0001c0001t0013g0094 a0001c0001t0112g0126	2	224	0.0089	14	c.126 others(35): Show c.1265-14025_1265-14024insTATACACACACATA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38303840	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp1 HG00140.hp2 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0139 a0001c0001t0088 a0001c0001t0139	a0001c0001t0088g0020 a0001c0001t0139g0039 a0001c0001t0088g0020 a0001c0001t0139g0039	2	224	0.0089	14	c.126 others(35): Show c.1265-15393_1265-15380dupATATATATATATAT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38303874	T T	TATATATA others(7): Show TATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG03098.hp2 others(1): Show HG01256.hp2 HG01258.hp1 HG03098.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0177 a0001c0001t0181 a0001c0001t0001 a0001c0001t0177 a0001c0001t0181	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0177g0093 others(1): Show a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0177g0093 a0001c0001t0181g0087	4	224	0.0179	14	c.126 others(35): Show c.1265-15414_1265-15413insGTGTATATATATAT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38303874	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0196 a0001c0001t0040g0196	1	224	0.0045	14	c.126 others(35): Show c.1265-15414_1265-15413insGTATATATATATAT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38328564	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18957.hp1 HG01952.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0047 a0001c0001t0017 a0001c0001t0047	a0001c0001t0017g0004 a0001c0001t0047g0100 a0001c0001t0017g0004 a0001c0001t0047g0100	2	224	0.0089	14	c.126 others(35): Show c.1264+16406_1264+16419dupACACACACACACAC	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38374280	A A	AGTATATA others(7): Show AGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02145.hp2 HG02129.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0149 a0001c0001t0024 a0001c0001t0149	a0001c0001t0024g0086 a0001c0001t0149g0055 a0001c0001t0024g0086 a0001c0001t0149g0055	2	224	0.0089	14	c.115 others(35): Show c.1155-29188_1155-29187insATATATATATATAC	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar

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