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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
BRWD1_chr21_39180482_39318632	39313589	GCGCCGCC others(5): Show GCGCCGCCGCCGC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02818.hp1 HG03540.hp1 HG02818.hp1 HG03540.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0025 a0004c0003t0026 a0004c0003t0025 a0004c0003t0026	a0004c0003t0025g0002 a0004c0003t0026g0001 a0004c0003t0025g0002 a0004c0003t0026g0001	2	338	0.0059	-12	c.-11 others(20): Show c.-110_-99delGCGGCGGCGGCG		BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	1/41				99		chr21	TogoVar
BRWD3_chrX_80664503_80814877	80788085	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02615.hp1 HG02723.hp2 others(3): Show HG01981.hp2 HG02615.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0064 a0001c0001t0076 others(3): Show a0001c0001t0053 a0001c0001t0064 a0001c0001t0076 a0001c0001t0082 a0001c0001t0086 a0001c0001t0112	a0001c0001t0053g0012 a0001c0001t0064g0034 a0001c0001t0076g0072 others(3): Show a0001c0001t0053g0012 a0001c0001t0064g0034 a0001c0001t0076g0072 a0001c0001t0082g0097 a0001c0001t0086g0107 a0001c0001t0112g0170	6	265	0.0226	-12	c.430 others(29): Show c.430+3757_430+3768delATTTATTTATTT		BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	6/40						chrX	TogoVar
BRWD3_chrX_80664503_80814877	80809759	AAGAGAGA others(5): Show AAGAGAGAGAGAG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02257.hp2 NA18906.hp2 HG02257.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0107 a0001c0001t0106 a0001c0001t0107	a0001c0001t0106g0164 a0001c0001t0107g0165 a0001c0001t0106g0164 a0001c0001t0107g0165	2	265	0.0076	-12	c.-30 others(21): Show c.-300_-289delCTCTCTCTCTCT		BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	1/41				289		chrX	TogoVar
BSDC1_chr1_32359633_32399441	32360845	CATAGATA others(5): Show CATAGATAGATAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 NA19086.hp2 HG02683.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0029 a0001c0001t0002g0111 a0001c0001t0001g0029 a0001c0001t0002g0111	2	170	0.0118	-12	c.57 others(23): Show c.5765_*5776delCTATCTATCTAT		BSDC1	ENSG00000160058.19	transcript	ENST00000455895.7	protein_coding					3787		chr1	TogoVar
BSG_chr19_567596_588493	572934	TCCGGCCT others(5): Show TCCGGCCTCGAGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00621.hp2 others(47): Show HG00099.hp2 HG00544.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01243.hp2 HG01256.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp2 HG01975.hp2 HG02015.hp2 HG02027.hp2 HG02129.hp2 HG02145.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03209.hp2 HG03471.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18939.hp1 NA18970.hp2 NA18998.hp2 NA19007.hp1 NA19066.hp2 NA19074.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 others(1): Show a0001c0001 a0001c0003 a0001c0010 a0001c0015	a0001c0001t0003 a0001c0001t0023 a0001c0003t0001 others(8): Show a0001c0001t0003 a0001c0001t0023 a0001c0003t0001 a0001c0003t0004 a0001c0003t0006 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0014 a0001c0010t0001 a0001c0015t0004	a0001c0001t0003g0051 a0001c0001t0003g0069 a0001c0001t0023g0068 others(29): Show a0001c0001t0003g0051 a0001c0001t0003g0069 a0001c0001t0023g0068 a0001c0003t0001g0058 a0001c0003t0001g0066 a0001c0003t0004g0003 a0001c0003t0004g0008 a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0039 a0001c0003t0004g0052 a0001c0003t0004g0054 a0001c0003t0004g0056 a0001c0003t0004g0057 a0001c0003t0004g0059 a0001c0003t0004g0061 a0001c0003t0004g0063 a0001c0003t0004g0067 a0001c0003t0004g0071 a0001c0003t0006g0003 a0001c0003t0006g0038 a0001c0003t0006g0060 a0001c0003t0006g0062 a0001c0003t0008g0003 a0001c0003t0008g0064 a0001c0003t0009g0003 a0001c0003t0009g0037 a0001c0003t0010g0003 a0001c0003t0010g0053 a0001c0003t0014g0055 a0001c0010t0001g0070 a0001c0015t0004g0065	50	306	0.1634	-12	c.67+ others(25): Show c.67+242_67+253delGAGCCCGGCCTC		BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr19	TogoVar
BSG_chr19_567596_588493	583671	GAGGCTGT others(5): Show GAGGCTGTCAGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0122 a0001c0002t0016g0122	1	306	0.0033	-12	c.92 others(21): Show c.928_*939delAGGCTGTCAGCC		BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding					179		chr19	TogoVar
BSND_chr1_54993933_55022172	55001201	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG01081.hp1 others(50): Show HG00438.hp2 HG00544.hp2 HG01081.hp1 HG01167.hp1 HG01175.hp1 HG01361.hp1 HG02015.hp2 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03453.hp1 HG03540.hp1 HG03834.hp2 NA18940.hp2 NA18945.hp2 NA18947.hp2 NA18955.hp1 NA18962.hp2 NA18963.hp1 NA18972.hp2 NA18980.hp1 NA18984.hp1 NA18988.hp1 NA18990.hp2 NA18992.hp2 NA18998.hp2 NA19001.hp2 NA19005.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19078.hp1 NA19081.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(31): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0025 a0001c0001t0038 a0001c0001t0056 a0001c0001t0060 a0001c0001t0062 a0001c0001t0063 a0001c0001t0071 a0001c0001t0103 a0001c0001t0148 a0001c0001t0185 a0001c0001t0194 a0001c0001t0197 a0001c0001t0198 a0001c0001t0199 a0001c0001t0202 a0001c0001t0204 a0001c0001t0205 a0001c0001t0209 a0001c0001t0210 a0001c0001t0211 a0001c0001t0212 a0001c0001t0218 a0001c0001t0222 a0001c0001t0224 a0001c0001t0226 a0001c0001t0250 a0001c0001t0255 a0001c0001t0264 a0001c0001t0265 a0001c0001t0268	a0001c0001t0001g0004 a0001c0001t0001g0076 a0001c0001t0008g0012 others(32): Show a0001c0001t0001g0004 a0001c0001t0001g0076 a0001c0001t0008g0012 a0001c0001t0009g0004 a0001c0001t0018g0004 a0001c0001t0025g0028 a0001c0001t0038g0014 a0001c0001t0056g0014 a0001c0001t0060g0012 a0001c0001t0062g0004 a0001c0001t0063g0043 a0001c0001t0071g0027 a0001c0001t0103g0014 a0001c0001t0148g0108 a0001c0001t0185g0158 a0001c0001t0194g0077 a0001c0001t0197g0012 a0001c0001t0198g0012 a0001c0001t0199g0004 a0001c0001t0202g0075 a0001c0001t0204g0004 a0001c0001t0205g0004 a0001c0001t0209g0063 a0001c0001t0210g0012 a0001c0001t0211g0072 a0001c0001t0212g0004 a0001c0001t0218g0073 a0001c0001t0222g0027 a0001c0001t0224g0004 a0001c0001t0226g0004 a0001c0001t0250g0044 a0001c0001t0255g0044 a0001c0001t0264g0078 a0001c0001t0265g0074 a0001c0001t0268g0070	53	448	0.1183	-12	c.177 others(29): Show c.177+1871_177+1882delGTGTGTGTGTGT		BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr1	TogoVar
BSN_chr3_49549477_49676549	49606240	TGTATATA others(5): Show TGTATATATTATA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0024 a0002c0020t0024	a0002c0020t0024g0166 a0002c0020t0024g0166	1	186	0.0054	-12	c.225 others(31): Show c.225-18734_225-18723delGTATATATTATA		BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11						chr3	TogoVar
BSN_chr3_49549477_49676549	49617283	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0018 a0003c0003t0004g0018	1	186	0.0054	-12	c.225 others(29): Show c.225-7667_225-7656delTATATATATATA		BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49671153	CGTGCGTG others(5): Show CGTGCGTGTGTGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0142 a0001c0001t0031g0142	1	186	0.0054	-12	c.36 others(23): Show c.3672_*3683delCGTGTGTGTGTG		BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	12/12				6318	INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49673801	CCTCACGC others(5): Show CCTCACGCTCACG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02683.hp1 others(4): Show HG02451.hp2 HG02486.hp1 HG02683.hp1 HG02895.hp1 HG03130.hp2 HG03453.hp1 NA20300.hp2	a0001 a0005 a0017 a0001 a0005 a0017	a0001c0001 a0005c0007 a0005c0032 others(2): Show a0001c0001 a0005c0007 a0005c0032 a0005c0034 a0017c0038	a0001c0001t0003 a0005c0007t0007 a0005c0007t0033 others(4): Show a0001c0001t0003 a0005c0007t0007 a0005c0007t0033 a0005c0007t0034 a0005c0032t0007 a0005c0034t0015 a0017c0038t0027	a0001c0001t0003g0159 a0005c0007t0007g0002 a0005c0007t0033g0005 others(4): Show a0001c0001t0003g0159 a0005c0007t0007g0002 a0005c0007t0033g0005 a0005c0007t0034g0004 a0005c0032t0007g0080 a0005c0034t0015g0001 a0017c0038t0027g0003	7	186	0.0376	-12	c.63 others(23): Show c.6317_*6328delCTCACGCTCACG		BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding					2253		chr3	TogoVar
BSPH1_chr19_47963046_47997170	47969684	GGAGAGAG others(5): Show GGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA21309.hp1 HG01891.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0253 a0001c0001t0001g0092 a0001c0001t0001g0253	2	444	0.0045	-12	c.3- others(27): Show c.3-1487_*3-1476delTCTCTCTCTCTC		BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	5/5						chr19	TogoVar
BSPH1_chr19_47963046_47997170	47973218	AAATAATA others(5): Show AAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG02615.hp1 others(6): Show HG02145.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02818.hp1 HG02896.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0223 a0001c0001t0003g0221 a0001c0001t0003g0276 others(6): Show a0001c0001t0001g0223 a0001c0001t0003g0221 a0001c0001t0003g0276 a0001c0001t0003g0322 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0328 a0001c0001t0003g0329	9	444	0.0203	-12	c.2+ others(27): Show c.2+3480_*2+3491delATTATTATTATT		BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	5/5						chr19	TogoVar
BSPH1_chr19_47963046_47997170	47985071	AAAAAAAA others(5): Show AAAAAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02886.hp1 HG02895.hp2 others(12): Show HG02818.hp2 HG02886.hp1 HG02895.hp2 HG03139.hp1 HG03486.hp2 NA18946.hp1 NA18961.hp2 NA18962.hp2 NA18975.hp1 NA18980.hp2 NA18985.hp1 NA18990.hp2 NA19058.hp2 NA19077.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0085 a0001c0001t0001g0224 others(11): Show a0001c0001t0001g0006 a0001c0001t0001g0085 a0001c0001t0001g0224 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0002g0241 a0001c0001t0002g0244	15	444	0.0338	-12	c.74- others(27): Show c.74-4142_74-4131delCTTTCTTTTTTT		BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	1/5						chr19	TogoVar
BSPH1_chr19_47963046_47997170	47989110	TTTATTAT others(5): Show TTTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00609.hp1 others(54): Show HG00099.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01123.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01993.hp1 HG02055.hp1 HG02080.hp1 HG02293.hp1 HG02451.hp1 HG02572.hp2 HG02647.hp2 HG02683.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG03130.hp2 HG03239.hp2 HG03471.hp1 HG03540.hp1 HG03704.hp1 HG03704.hp2 NA18522.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18950.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18983.hp2 NA19000.hp2 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19074.hp1 NA19075.hp2 NA19085.hp2 NA19087.hp1 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0006 a0001c0001 a0002c0003 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0003t0001 a0004c0006t0002	a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0098 others(53): Show a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0355 a0001c0001t0001g0357 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0383 a0001c0001t0001g0384 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0001g0404 a0001c0001t0002g0010 a0001c0001t0002g0107 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0354 a0001c0001t0002g0356 a0001c0001t0002g0358 a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0001t0002g0369 a0001c0001t0002g0370 a0001c0001t0002g0376 a0001c0001t0002g0377 a0001c0001t0002g0378 a0001c0001t0002g0379 a0001c0001t0002g0380 a0001c0001t0002g0381 a0001c0001t0002g0382 a0001c0001t0002g0387 a0001c0001t0002g0388 a0001c0001t0002g0389 a0001c0001t0003g0221 a0001c0001t0004g0359 a0002c0003t0001g0407 a0004c0006t0002g0371	57	444	0.1284	-12	c.73+ others(27): Show c.73+2887_73+2898delTAATAATAATAA		BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	1/5						chr19	TogoVar
BSPRY_chr9_113344541_113376222	113357886	CTATATAT others(5): Show CTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp1 HG01346.hp2 others(8): Show HG01099.hp1 HG01192.hp1 HG01346.hp2 HG01358.hp2 HG01943.hp1 HG01981.hp2 HG01993.hp1 HG02300.hp2 HG02572.hp2 HG02886.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0101 others(5): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0101 a0001c0001t0001g0215 a0001c0001t0002g0009 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0004g0084	11	448	0.0246	-12	c.301 others(29): Show c.301-2575_301-2564delATATATATATAT		BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
BST1_chr4_15698065_15737787	15698713	GTATATAT others(5): Show GTATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02451.hp1 others(4): Show HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02630.hp1 HG02976.hp1 HG03130.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0013 others(1): Show a0001c0001 a0001c0010 a0001c0013 a0001c0022	a0001c0001t0001 a0001c0010t0001 a0001c0013t0001 others(1): Show a0001c0001t0001 a0001c0010t0001 a0001c0013t0001 a0001c0022t0001	a0001c0001t0001g0105 a0001c0010t0001g0026 a0001c0010t0001g0107 others(3): Show a0001c0001t0001g0105 a0001c0010t0001g0026 a0001c0010t0001g0107 a0001c0010t0001g0108 a0001c0013t0001g0320 a0001c0022t0001g0104	7	442	0.0158	-12	c.-44 others(23): Show c.-4431_-4420delTATATATATATA		BST1	ENSG00000109743.11	transcript	ENST00000265016.9	protein_coding					4351		chr4	TogoVar
BST2_chr19_17397939_17410630	17402468	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	412	0.0024	-12	c.86 others(21): Show c.862_*873delTTTTTTTTTTTT		BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding					470		chr19	TogoVar
BST2_chr19_17397939_17410630	17402483	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	412	0.0024	-12	c.84 others(21): Show c.847_*858delCTTTTTTTTTTT		BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding					455		chr19	TogoVar
BST2_chr19_17397939_17410630	17410497	CATATATA others(5): Show CATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(34): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01074.hp2 HG01099.hp1 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01358.hp1 HG01515.hp2 HG01934.hp1 HG01978.hp1 HG02015.hp2 HG02273.hp2 HG02523.hp2 HG02683.hp1 HG03017.hp1 HG03017.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03927.hp2 HG04199.hp1 HG04199.hp2 NA18948.hp1 NA18962.hp2 NA18971.hp2 NA18981.hp1 NA18998.hp2 NA19000.hp1 NA19057.hp1 NA19090.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0001 a0001c0001t0001g0011	37	412	0.0898	-12	c.-49 others(23): Show c.-4934_-4923delATATATATATAT		BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding					4868		chr19	TogoVar
BST2_chr19_17397939_17410630	17410519	TATATATA others(5): Show TATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	-12	c.-49 others(23): Show c.-4956_-4945delGTATATATATAT		BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding					4890		chr19	TogoVar
BTAF1_chr10_91918770_92036437	91942298	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG01099.hp2 others(26): Show HG00733.hp1 HG00735.hp1 HG01099.hp2 HG01175.hp1 HG01192.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG02155.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02895.hp1 HG02896.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03942.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0012 a0001c0001 a0001c0006 a0001c0012	a0001c0001t0001 a0001c0001t0012 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0006t0001 a0001c0012t0001	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 others(25): Show a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0012g0113 a0001c0006t0001g0001 a0001c0012t0001g0121	29	330	0.0879	-12	c.254 others(26): Show c.254-102_254-91delGTGTGTGTGTGT		BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	3/37					INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	91959740	GTATATAT others(5): Show GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18939.hp2 NA18946.hp1 others(6): Show HG02886.hp1 NA18939.hp2 NA18946.hp1 NA18966.hp2 NA18970.hp2 NA18973.hp1 NA18983.hp1 NA19003.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0048 others(6): Show a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0085 a0001c0001t0001g0088	9	330	0.0273	-12	c.991 others(25): Show c.991-25_991-14delATATATATATAT		BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	9/37					INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	91991789	GTGTGTGT others(5): Show GTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	330	0.0030	-12	c.285 others(29): Show c.2855-328_2855-317delGTGTGTGTATAT		BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37					INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	91991791	GTGTGTGT others(5): Show GTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp2 HG01169.hp2 others(21): Show HG00140.hp1 HG01070.hp2 HG01169.hp2 HG01258.hp1 HG01516.hp1 HG01928.hp1 HG01952.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02273.hp2 HG02602.hp1 HG03654.hp1 HG03710.hp1 HG04115.hp2 HG04204.hp1 NA18939.hp1 NA18985.hp2 NA19000.hp2 NA19007.hp2 NA19057.hp2 NA19058.hp1 NA19066.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0014 a0001c0001 a0003c0014	a0001c0001t0002 a0003c0014t0002 a0001c0001t0002 a0003c0014t0002	a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 others(21): Show a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0254 a0001c0001t0002g0269 a0001c0001t0002g0272 a0001c0001t0002g0278 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0297 a0001c0001t0002g0301 a0003c0014t0002g0255	24	330	0.0727	-12	c.285 others(29): Show c.2855-326_2855-315delGTGTGTATATAT		BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37					INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92001983	TATACACA others(5): Show TATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	330	0.0030	-12	c.366 others(31): Show c.3660+4234_3660+4245delTACACACACACA		BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	25/37					INFO_REALIGN_3_PRIME	chr10	TogoVar
BTBD17_chr17_74351416_74366868	74359364	TTTGGTTG others(5): Show TTTGGTTGGTTGG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02486.hp2 HG03540.hp1 HG00639.hp1 HG02486.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0066 a0001c0001t0001g0031 a0001c0001t0001g0066	3	444	0.0068	-12	c.362 others(27): Show c.362+593_362+604delCCAACCAACCAA		BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding	2/2						chr17	TogoVar
BTBD17_chr17_74351416_74366868	74365064	TACACACA others(5): Show TACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02486.hp2 HG00639.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0066 a0001c0001t0001g0031 a0001c0001t0001g0066	2	444	0.0045	-12	c.-32 others(23): Show c.-3257_-3246delGTGTGTGTGTGT		BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding					3197		chr17	TogoVar
BTBD19_chr1_44803523_44820585	44814148	CTCTTTCT others(5): Show CTCTTTCTTTCTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp2 HG01993.hp2 HG02074.hp2 others(8): Show HG01099.hp2 HG01993.hp2 HG02074.hp2 HG02135.hp1 HG02145.hp2 HG02647.hp1 HG02735.hp1 HG03486.hp2 HG04228.hp1 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0018 a0001c0001t0050 a0001c0001t0053 others(4): Show a0001c0001t0018 a0001c0001t0050 a0001c0001t0053 a0001c0001t0087 a0001c0001t0118 a0001c0001t0119 a0001c0004t0018	a0001c0001t0018g0002 a0001c0001t0018g0003 a0001c0001t0018g0004 others(7): Show a0001c0001t0018g0002 a0001c0001t0018g0003 a0001c0001t0018g0004 a0001c0001t0018g0053 a0001c0001t0050g0014 a0001c0001t0053g0002 a0001c0001t0087g0018 a0001c0001t0118g0004 a0001c0001t0119g0004 a0001c0004t0018g0003	11	436	0.0252	-12	c.43 others(21): Show c.430_*441delCTTTCTTTCTTT		BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding	8/8				430	INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD1_chr15_83011423_83072252	83026969	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00642.hp2 others(50): Show HG00099.hp2 HG00140.hp2 HG00642.hp2 HG01099.hp2 HG01106.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01433.hp2 HG01884.hp1 HG01891.hp2 HG02083.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03471.hp1 HG03491.hp2 HG03579.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp1 NA18940.hp2 NA18943.hp2 NA18945.hp1 NA18952.hp2 NA18956.hp1 NA18957.hp2 NA18963.hp2 NA18965.hp1 NA18967.hp2 NA18985.hp2 NA18994.hp1 NA19000.hp2 NA19009.hp1 NA19057.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19091.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0004t0002	a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 others(50): Show a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0115 a0001c0001t0009g0026 a0001c0001t0009g0027 a0001c0001t0009g0028 a0001c0001t0011g0138 a0001c0001t0011g0259 a0001c0001t0011g0322 a0001c0001t0016g0121 a0001c0004t0002g0061	53	328	0.1616	-12	c.105 others(31): Show c.1055+3155_1055+3166delACACACACACAC		BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	5/7						chr15	TogoVar
BTBD1_chr15_83011423_83072252	83050430	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0014 a0001c0007t0014	a0001c0007t0014g0107 a0001c0007t0014g0107	1	328	0.0031	-12	c.559 others(27): Show c.559-264_559-253delCACACACACACA		BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7						chr15	TogoVar
BTBD2_chr19_1980448_2020714	1986258	GGGCCTGG others(5): Show GGGCCTGGCCACT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp1 HG01358.hp1 HG01934.hp1 others(10): Show HG01346.hp1 HG01358.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG02055.hp2 HG02293.hp2 NA18971.hp1 NA18983.hp2 NA18990.hp1 NA19056.hp1 NA19060.hp2 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0003 a0002c0002 a0003c0006 others(2): Show a0001c0003 a0002c0002 a0003c0006 a0004c0012 a0006c0020	a0001c0003t0011 a0002c0002t0003 a0002c0002t0027 others(3): Show a0001c0003t0011 a0002c0002t0003 a0002c0002t0027 a0003c0006t0003 a0004c0012t0011 a0006c0020t0003	a0001c0003t0011g0221 a0002c0002t0003g0023 a0002c0002t0003g0054 others(10): Show a0001c0003t0011g0221 a0002c0002t0003g0023 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0060 a0002c0002t0003g0095 a0002c0002t0027g0061 a0003c0006t0003g0169 a0003c0006t0003g0196 a0004c0012t0011g0341 a0006c0020t0003g0012	13	364	0.0357	-12	c.21 others(21): Show c.218_*229delAGTGGCCAGGCC		BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	9/9				218		chr19	TogoVar
BTBD2_chr19_1980448_2020714	2015541	GGGCGGCG others(5): Show GGGCGGCGGCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(98): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00735.hp1 HG01109.hp2 HG01123.hp1 HG01346.hp1 HG01358.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02970.hp1 HG03017.hp1 HG03098.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03492.hp2 HG03688.hp1 HG03710.hp2 HG04204.hp2 HG06807.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18952.hp2 NA18953.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp2 NA18970.hp2 NA18975.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0002 a0008 a0011 others(1): Show a0002 a0008 a0011 a0012	a0002c0002 a0002c0005 a0002c0008 others(8): Show a0002c0002 a0002c0005 a0002c0008 a0002c0016 a0002c0017 a0002c0026 a0002c0027 a0002c0028 a0008c0019 a0011c0025 a0012c0029	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(18): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0020 a0002c0002t0027 a0002c0005t0001 a0002c0005t0002 a0002c0005t0006 a0002c0005t0019 a0002c0005t0021 a0002c0005t0028 a0002c0008t0001 a0002c0008t0016 a0002c0016t0001 a0002c0017t0002 a0002c0026t0012 a0002c0027t0001 a0002c0028t0002 a0008c0019t0002 a0011c0025t0001 a0012c0029t0001	a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0036 others(97): Show a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0036 a0002c0002t0001g0041 a0002c0002t0001g0053 a0002c0002t0001g0070 a0002c0002t0001g0074 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0083 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0100 a0002c0002t0001g0102 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0113 a0002c0002t0002g0020 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0052 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0077 a0002c0002t0002g0084 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0099 a0002c0002t0003g0023 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0060 a0002c0002t0003g0095 a0002c0002t0020g0072 a0002c0002t0027g0061 a0002c0005t0001g0018 a0002c0005t0001g0019 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0005t0001g0034 a0002c0005t0001g0038 a0002c0005t0001g0043 a0002c0005t0001g0051 a0002c0005t0001g0079 a0002c0005t0001g0090 a0002c0005t0001g0111 a0002c0005t0001g0112 a0002c0005t0002g0001 a0002c0005t0002g0017 a0002c0005t0002g0027 a0002c0005t0002g0028 a0002c0005t0002g0029 a0002c0005t0002g0030 a0002c0005t0002g0031 a0002c0005t0002g0033 a0002c0005t0002g0039 a0002c0005t0002g0040 a0002c0005t0002g0047 a0002c0005t0002g0075 a0002c0005t0002g0076 a0002c0005t0002g0085 a0002c0005t0002g0091 a0002c0005t0002g0106 a0002c0005t0002g0107 a0002c0005t0006g0086 a0002c0005t0019g0032 a0002c0005t0021g0037 a0002c0005t0028g0063 a0002c0008t0001g0026 a0002c0008t0001g0035 a0002c0008t0001g0046 a0002c0008t0001g0049 a0002c0008t0001g0056 a0002c0008t0001g0059 a0002c0008t0001g0062 a0002c0008t0001g0064 a0002c0008t0001g0071 a0002c0008t0001g0103 a0002c0008t0001g0104 a0002c0008t0001g0105 a0002c0008t0016g0065 a0002c0016t0001g0073 a0002c0016t0001g0088 a0002c0017t0002g0081 a0002c0017t0002g0109 a0002c0026t0012g0082 a0002c0027t0001g0042 a0002c0028t0002g0068 a0008c0019t0002g0008 a0011c0025t0001g0016 a0012c0029t0001g0101	101	364	0.2775	-12	c.151 others(19): Show c.151_162delGCCGCCGCCGCC	p.Ala others(11): Show p.Ala51_Ala54del	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	1/9	173/2629	151/1578	51/525			chr19	TogoVar
BTBD2_chr19_1980448_2020714	2018320	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02895.hp2 HG03098.hp1 others(2): Show HG02559.hp1 HG02895.hp2 HG03098.hp1 HG03195.hp1 NA19030.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0005 a0003c0004 others(1): Show a0001c0001 a0002c0005 a0003c0004 a0003c0006	a0001c0001t0015 a0002c0005t0002 a0003c0004t0002 others(2): Show a0001c0001t0015 a0002c0005t0002 a0003c0004t0002 a0003c0006t0001 a0003c0006t0004	a0001c0001t0015g0239 a0002c0005t0002g0028 a0003c0004t0002g0144 others(2): Show a0001c0001t0015g0239 a0002c0005t0002g0028 a0003c0004t0002g0144 a0003c0006t0001g0142 a0003c0006t0004g0139	5	364	0.0137	-12	c.-26 others(23): Show c.-2629_-2618delAAAAAAAAAAAA		BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding					2607		chr19	TogoVar
BTBD2_chr19_1980448_2020714	2019619	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0202 a0003c0004t0002g0202	1	364	0.0028	-12	c.-39 others(23): Show c.-3928_-3917delAAAAAAAAAAAA		BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding					3906		chr19	TogoVar
BTBD7_chr14_93232550_93338036	93247328	TTTTGTTT others(5): Show TTTTGTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0227 a0001c0001t0004g0227	1	375	0.0027	-12	c.212 others(31): Show c.2122-1054_2122-1043delCAAACAAACAAA		BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	9/10						chr14	TogoVar
BTBD7_chr14_93232550_93338036	93249266	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG01255.hp2 others(19): Show HG00438.hp1 HG00558.hp2 HG01255.hp2 HG01516.hp2 HG02027.hp1 HG02451.hp1 HG02976.hp1 HG03041.hp1 HG03688.hp1 HG03942.hp2 NA18522.hp1 NA18944.hp1 NA18949.hp2 NA18955.hp2 NA18968.hp2 NA18972.hp2 NA18984.hp1 NA19030.hp2 NA19060.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0027 a0002c0002t0008 a0002c0002t0019 others(7): Show a0001c0001t0027 a0002c0002t0008 a0002c0002t0019 a0002c0002t0023 a0002c0002t0031 a0002c0002t0044 a0002c0002t0054 a0003c0003t0029 a0003c0003t0055 a0003c0003t0056	a0001c0001t0027g0152 a0002c0002t0008g0135 a0002c0002t0008g0138 others(19): Show a0001c0001t0027g0152 a0002c0002t0008g0135 a0002c0002t0008g0138 a0002c0002t0008g0139 a0002c0002t0008g0140 a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0144 a0002c0002t0008g0145 a0002c0002t0019g0154 a0002c0002t0019g0155 a0002c0002t0019g0156 a0002c0002t0023g0136 a0002c0002t0023g0137 a0002c0002t0031g0149 a0002c0002t0031g0151 a0002c0002t0044g0141 a0002c0002t0054g0153 a0003c0003t0029g0132 a0003c0003t0029g0133 a0003c0003t0055g0131 a0003c0003t0056g0134	22	375	0.0587	-12	c.194 others(29): Show c.1943-624_1943-613delTTTTTTTTTTTT		BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	8/10						chr14	TogoVar
BTBD7_chr14_93232550_93338036	93300704	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG01070.hp2 others(9): Show HG00438.hp2 HG00544.hp2 HG01070.hp2 HG01106.hp1 HG01258.hp1 HG02258.hp2 HG03130.hp2 NA18943.hp1 NA18989.hp2 NA19056.hp2 NA19074.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0001t0025 a0001c0001t0034 a0001c0001t0049	a0001c0001t0001g0004 a0001c0001t0001g0073 a0001c0001t0001g0074 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0102 a0001c0001t0003g0171 a0001c0001t0003g0173 a0001c0001t0003g0219 a0001c0001t0021g0084 a0001c0001t0025g0193 a0001c0001t0034g0104 a0001c0001t0049g0129	12	375	0.0320	-12	c.-10 others(31): Show c.-106-4559_-106-4548delCACACACACACA		BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10						chr14	TogoVar
BTBD7_chr14_93232550_93338036	93300762	GTGTGTGT others(5): Show GTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG01975.hp1 others(13): Show HG00408.hp2 HG00544.hp1 HG01975.hp1 HG02083.hp2 HG02129.hp1 HG02165.hp2 NA18941.hp1 NA18946.hp2 NA18949.hp1 NA18965.hp1 NA18967.hp2 NA18973.hp2 NA18998.hp2 NA19056.hp1 NA19062.hp1 NA19077.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0002 a0006c0010t0002 a0001c0001t0002 a0006c0010t0002	a0001c0001t0002g0319 a0001c0001t0002g0322 a0001c0001t0002g0323 others(13): Show a0001c0001t0002g0319 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0325 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0349 a0001c0001t0002g0353 a0001c0001t0002g0355 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0364 a0006c0010t0002g0288	16	375	0.0427	-12	c.-10 others(31): Show c.-106-4617_-106-4606delTACACACACACA		BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10						chr14	TogoVar
BTBD7_chr14_93232550_93338036	93300766	GTGTGTGT others(5): Show GTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0343 a0001c0001t0002g0343	1	375	0.0027	-12	c.-10 others(31): Show c.-106-4621_-106-4610delTATATACACACA		BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10						chr14	TogoVar
BTBD7_chr14_93232550_93338036	93313679	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA21309.hp1 NA19030.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0027 a0002c0002t0054 a0001c0001t0027 a0002c0002t0054	a0001c0001t0027g0152 a0002c0002t0054g0153 a0001c0001t0027g0152 a0002c0002t0054g0153	2	375	0.0053	-12	c.-10 others(33): Show c.-106-17534_-106-17523delGTGTGTGTGTGT		BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10						chr14	TogoVar
BTBD7_chr14_93232550_93338036	93328312	TCTTGAAA others(5): Show TCTTGAAAAGAAC	T T	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	375	0.0027	-12	c.-10 others(31): Show c.-107+4496_-107+4507delGTTCTTTTCAAG		BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10						chr14	TogoVar
BTBD7_chr14_93232550_93338036	93332900	TCCGCACC others(5): Show TCCGCACCGGCGC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0043 a0007c0009t0043	a0007c0009t0043g0127 a0007c0009t0043g0127	1	375	0.0027	-12	c.-19 others(21): Show c.-199_-188delGCGCCGGTGCGG		BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/11				36850		chr14	TogoVar
BTBD8_chr1_92075345_92189723	92076539	TTTTATTT others(5): Show TTTTATTTATTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG02622.hp1 others(6): Show HG02145.hp2 HG02486.hp1 HG02622.hp1 HG02622.hp2 HG02896.hp2 HG02922.hp2 HG03130.hp1 HG03453.hp1 NA18906.hp2	a0001 a0005 a0012 a0001 a0005 a0012	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0005c0007 a0012c0012	a0001c0001t0001 a0001c0003t0003 a0001c0009t0001 others(2): Show a0001c0001t0001 a0001c0003t0003 a0001c0009t0001 a0005c0007t0001 a0012c0012t0001	a0001c0001t0001g0035 a0001c0003t0003g0011 a0001c0003t0003g0012 others(6): Show a0001c0001t0001g0035 a0001c0003t0003g0011 a0001c0003t0003g0012 a0001c0009t0001g0039 a0001c0009t0001g0040 a0005c0007t0001g0032 a0005c0007t0001g0037 a0005c0007t0001g0038 a0012c0012t0001g0104	9	158	0.0570	-12	c.-40 others(23): Show c.-4032_-4021delTTTATTTATTTA		BTBD8	ENSG00000189195.15	transcript	ENST00000636805.2	protein_coding					3805		chr1	TogoVar
BTBD8_chr1_92075345_92189723	92090251	CCCACTAG others(5): Show CCCACTAGCAATG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0028	1	158	0.0063	-12	c.347 others(29): Show c.347+1357_347+1368delCCACTAGCAATG		BTBD8	ENSG00000189195.15	transcript	ENST00000636805.2	protein_coding	2/17						chr1	TogoVar
BTBD8_chr1_92075345_92189723	92127552	TTTTGTTT others(5): Show TTTTGTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0027 a0011c0015t0001g0027	1	158	0.0063	-12	c.663 others(29): Show c.663-2107_663-2096delGTTTGTTTGTTT		BTBD8	ENSG00000189195.15	transcript	ENST00000636805.2	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD8_chr1_92075345_92189723	92139932	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0012 a0001c0003t0003g0012	1	158	0.0063	-12	c.833 others(27): Show c.833+522_833+533delAAAAAAAAAAAA		BTBD8	ENSG00000189195.15	transcript	ENST00000636805.2	protein_coding	6/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD9_chr6_38163451_38644929	38171555	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01884.hp1 HG02145.hp1 others(5): Show HG00741.hp2 HG01884.hp1 HG02145.hp1 HG02273.hp1 HG02572.hp2 HG02630.hp2 HG02965.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0063 a0001c0001t0064 others(5): Show a0001c0001t0056 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0073 a0001c0001t0103 a0001c0001t0148 a0001c0001t0171	a0001c0001t0056g0028 a0001c0001t0063g0090 a0001c0001t0064g0184 others(5): Show a0001c0001t0056g0028 a0001c0001t0063g0090 a0001c0001t0064g0184 a0001c0001t0065g0133 a0001c0001t0073g0015 a0001c0001t0103g0014 a0001c0001t0148g0150 a0001c0001t0171g0188	8	224	0.0357	-12	c.34 others(23): Show c.3418_*3429delACACACACACAC		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	11/11				3418		chr6	TogoVar
BTBD9_chr6_38163451_38644929	38171846	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01071.hp1 HG01106.hp1 HG01261.hp2 others(4): Show HG01071.hp1 HG01106.hp1 HG01261.hp2 HG01433.hp2 HG02273.hp2 HG02976.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0026 a0001c0001t0049 others(2): Show a0001c0001t0008 a0001c0001t0026 a0001c0001t0049 a0001c0001t0050 a0001c0001t0066	a0001c0001t0008g0051 a0001c0001t0008g0054 a0001c0001t0008g0213 others(4): Show a0001c0001t0008g0051 a0001c0001t0008g0054 a0001c0001t0008g0213 a0001c0001t0026g0195 a0001c0001t0049g0067 a0001c0001t0050g0021 a0001c0001t0066g0077	7	224	0.0313	-12	c.31 others(23): Show c.3127_*3138delTTTTTTTTTTTT		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	11/11				3127		chr6	TogoVar
BTBD9_chr6_38163451_38644929	38171871	AAAAAAAA others(5): Show AAAAAAAAAAAAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0173 a0001c0001t0173	a0001c0001t0173g0176 a0001c0001t0173g0176	1	224	0.0045	-12	c.31 others(23): Show c.3102_*3113delATTTTTTTTTTT		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	11/11				3102		chr6	TogoVar

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