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
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	424	0.0024	20	c.127 others(37): Show c.127+2198_127+2199insAATATATATATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	424	0.0024	20	c.127 others(37): Show c.127+2198_127+2199insAAAATATATATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0308 a0008c0017t0001g0308	1	424	0.0024	20	c.127 others(37): Show c.127+2198_127+2199insAAAAAATATATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	424	0.0024	20	c.127 others(37): Show c.127+2198_127+2199insAAAAAAAATATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRDT_chr1_91944401_92019421	91945279	A A	AATATATA others(13): Show AATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 NA18522.hp1 HG00423.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0233 a0001c0001t0001g0206 a0001c0001t0001g0233	2	318	0.0063	20	c.-44 others(31): Show c.-4441_-4440insATATATATATATATATATAT	BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding		4121		chr1	TogoVar
BRF1_chr14_105204286_105306001	105248555	C C	CGGCGGGT others(13): Show CGGCGGGTACGGGCTCGGGCG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG03579.hp1 HG01891.hp2 HG02258.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0036 a0001c0001t0002g0028 a0001c0001t0007g0071 a0001c0001t0001g0036 a0001c0001t0002g0028 a0001c0001t0007g0071	3	72	0.0417	20	c.544 others(37): Show c.544+3932_544+3951dupCGCCCGAGCCCGTACCCGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	5/17			chr14	TogoVar
BRI3BP_chr12_124988645_125036231	124997214	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02818.hp2 others(4): Show HG02559.hp1 HG02572.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0024 a0001c0001t0031 others(3): Show a0001c0001t0013 a0001c0001t0024 a0001c0001t0031 a0001c0001t0035 a0001c0001t0072 a0001c0001t0073	a0001c0001t0013g0068 a0001c0001t0024g0069 a0001c0001t0024g0071 others(4): Show a0001c0001t0013g0068 a0001c0001t0024g0069 a0001c0001t0024g0071 a0001c0001t0031g0035 a0001c0001t0035g0070 a0001c0001t0072g0344 a0001c0001t0073g0343	7	410	0.0171	20	c.213 others(37): Show c.213+3230_213+3231insTTTTTTTTTTTTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3BP_chr12_124988645_125036231	125016825	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0143 a0003c0003t0001g0143	1	410	0.0024	20	c.316 others(37): Show c.316+4197_316+4216dupTTTTTTTTTTTTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3BP_chr12_124988645_125036231	125019634	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02451.hp2 NA19080.hp2 HG00438.hp1 HG02451.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0004 a0002c0002t0029 a0002c0008t0042 a0002c0002t0004 a0002c0002t0029 a0002c0008t0042	a0002c0002t0004g0217 a0002c0002t0029g0233 a0002c0008t0042g0231 a0002c0002t0004g0217 a0002c0002t0029g0233 a0002c0008t0042g0231	3	410	0.0073	20	c.317 others(37): Show c.317-5357_317-5356insTTTTTTTTTTTTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	2/2			chr12	TogoVar
BRI3BP_chr12_124988645_125036231	125022541	A A	ATTTATTT others(13): Show ATTTATTTATTTATTTATTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02647.hp2 others(4): Show HG01884.hp1 HG01891.hp1 HG02647.hp2 HG02965.hp1 HG02970.hp1 HG03486.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0001c0001t0016 a0001c0001t0076 others(1): Show a0001c0001t0009 a0001c0001t0016 a0001c0001t0076 a0002c0002t0009	a0001c0001t0009g0044 a0001c0001t0009g0051 a0001c0001t0016g0038 others(4): Show a0001c0001t0009g0044 a0001c0001t0009g0051 a0001c0001t0016g0038 a0001c0001t0016g0046 a0001c0001t0016g0050 a0001c0001t0076g0404 a0002c0002t0009g0352	7	410	0.0171	20	c.317 others(37): Show c.317-2447_317-2446insATTTATTTATTTATTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3BP_chr12_124988645_125036231	125022541	A A	ATTTATTT others(13): Show ATTTATTTATTTATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02559.hp1 others(5): Show HG02055.hp1 HG02055.hp2 HG02559.hp1 HG02717.hp2 HG02818.hp2 HG02922.hp2 HG03225.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0024 a0001c0001t0035 a0001c0001t0075 others(4): Show a0001c0001t0024 a0001c0001t0035 a0001c0001t0075 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0007t0024	a0001c0001t0024g0071 a0001c0001t0035g0070 a0001c0001t0035g0076 others(5): Show a0001c0001t0024g0071 a0001c0001t0035g0070 a0001c0001t0035g0076 a0001c0001t0075g0037 a0001c0001t0083g0073 a0001c0001t0084g0072 a0001c0001t0085g0075 a0001c0007t0024g0079	8	410	0.0195	20	c.317 others(37): Show c.317-2447_317-2446insATTTATTTATTTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3BP_chr12_124988645_125036231	125022541	A A	ATTTATTT others(13): Show ATTTATTTATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03209.hp1 HG02280.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0024 a0001c0001t0016 a0001c0001t0024	a0001c0001t0016g0039 a0001c0001t0024g0069 a0001c0001t0016g0039 a0001c0001t0024g0069	2	410	0.0049	20	c.317 others(37): Show c.317-2447_317-2446insATTTATTTTTTTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3_chr7_98276686_98296545	98280243	A A	AATATATA others(13): Show AATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	414	0.0024	20	c.-15 others(31): Show c.-1553_-1552insATATATATATATATATATAT	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding		1442		chr7	TogoVar
BRI3_chr7_98276686_98296545	98280245	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01099.hp1 others(1): Show HG01069.hp1 HG01069.hp2 HG01099.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0032	4	414	0.0097	20	c.-15 others(31): Show c.-1551_-1550insAAATATATATATATATATAT	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding		1440		chr7	TogoVar
BRINP1_chr9_119161629_119374435	119268285	T T	TAGATAGA others(13): Show TAGATAGATAGATAGACAGAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0012 a0001c0002t0003g0012	1	236	0.0042	20	c.219 others(39): Show c.219-19136_219-19135insGTCTGTCTATCTATCTATCT	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	2/7			chr9	TogoVar
BRINP1_chr9_119161629_119374435	119268285	T T	TAGATAGA others(13): Show TAGATAGATAGATAGATAGAC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01952.hp2 others(4): Show HG01257.hp1 HG01258.hp2 HG01952.hp2 HG02129.hp2 NA19090.hp1 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0080 a0001c0001t0001g0153 a0001c0002t0001g0070 others(4): Show a0001c0001t0001g0080 a0001c0001t0001g0153 a0001c0002t0001g0070 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0155 a0001c0002t0001g0171	7	236	0.0297	20	c.219 others(39): Show c.219-19136_219-19135insGTCTATCTATCTATCTATCT	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	2/7			chr9	TogoVar
BRINP1_chr9_119161629_119374435	119367217	G G	GTGTGATA others(13): Show GTGTGATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	236	0.0042	20	c.-51 others(37): Show c.-51+1838_-51+1839insATATATATATATATATCACA	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	1/7			chr9	TogoVar
BRINP1_chr9_119161629_119374435	119367221	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02109.hp2 HG02129.hp1 others(2): Show HG01952.hp2 HG02109.hp2 HG02129.hp1 HG02165.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0002t0001g0155 others(2): Show a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0002t0001g0155 a0001c0002t0001g0157 a0001c0003t0001g0193	5	236	0.0212	20	c.-51 others(37): Show c.-51+1815_-51+1834dupATATATATATATATATATAT	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	1/7			chr9	TogoVar
BRINP2_chr1_177165958_177287422	177179567	G G	GCACACAC others(13): Show GCACACACACACTCTTTCTCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01106.hp2 HG02055.hp1 others(1): Show HG01099.hp1 HG01106.hp2 HG02055.hp1 HG03669.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0014 a0001c0001t0001 a0001c0001t0003 a0002c0002t0014	a0001c0001t0001g0160 a0001c0001t0003g0159 a0001c0001t0003g0161 others(1): Show a0001c0001t0001g0160 a0001c0001t0003g0159 a0001c0001t0003g0161 a0002c0002t0014g0020	4	252	0.0159	20	c.-77 others(37): Show c.-77+7867_-77+7886dupTCTTTCTCTCACACACACAC	BRINP2	ENSG00000198797.7	transcript	ENST00000361539.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
BRINP3_chr1_190092658_190482864	190265539	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp1 HG02055.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0122 a0001c0001t0003g0004 a0001c0001t0001g0122 a0001c0001t0003g0004	2	240	0.0083	20	c.428 others(35): Show c.428-504_428-485dupATATATATATATATATATAT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	3/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190277087	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(18): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00741.hp2 HG01243.hp1 HG02040.hp2 HG02132.hp2 HG02559.hp1 HG02738.hp2 HG03139.hp1 HG03540.hp1 NA18747.hp2 NA18963.hp1 NA18964.hp2 NA18979.hp1 NA18993.hp2 NA19054.hp1 NA19079.hp1 NA19083.hp1 NA19085.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 a0001c0001t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0050 others(18): Show a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0080 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0156 a0001c0001t0001g0172 a0001c0001t0001g0181 a0001c0001t0002g0203 a0001c0001t0002g0210 a0001c0001t0002g0214 a0001c0001t0002g0218 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0002c0004t0001g0021	21	240	0.0875	20	c.427 others(37): Show c.427+4453_427+4472dupTATATATATATATATATATA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	3/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190277087	T T	TTTTATAT others(13): Show TTTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	240	0.0042	20	c.427 others(37): Show c.427+4472_427+4473insTATATATATATATATATAAA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	3/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190277113	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp1 HG02258.hp1 others(8): Show HG01243.hp2 HG02257.hp1 HG02258.hp1 HG03471.hp2 HG03491.hp2 HG03688.hp1 HG03704.hp1 NA18978.hp2 NA18979.hp2 NA19004.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0018 a0001c0001t0001g0064 a0001c0001t0001g0090 others(8): Show a0001c0001t0001g0018 a0001c0001t0001g0064 a0001c0001t0001g0090 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0168 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0002g0204 a0001c0001t0003g0007	11	240	0.0458	20	c.427 others(37): Show c.427+4446_427+4447insAATATATATATATATATATA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	3/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190301166	C C	CATATATA others(13): Show CATATATATACATATATATGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	240	0.0042	20	c.237 others(39): Show c.237-19417_237-19416insACATATATATGTATATATAT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190396713	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01109.hp2 HG03098.hp1 others(3): Show HG00408.hp2 HG01109.hp2 HG03098.hp1 HG03471.hp1 HG03516.hp2 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0123 a0001c0001t0001g0173 a0001c0001t0001g0192 others(3): Show a0001c0001t0001g0123 a0001c0001t0001g0173 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0002g0217 a0001c0001t0007g0198	6	240	0.0250	20	c.236 others(39): Show c.236+57922_236+57941dupATATATATATATATATATAT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190457460	A A	AAAAACAA others(13): Show AAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp2 HG02257.hp1 others(19): Show HG01074.hp2 HG01109.hp2 HG02257.hp1 HG02258.hp1 HG02523.hp1 HG02615.hp2 HG02622.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03139.hp1 HG03209.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp1 NA19009.hp1 NA19030.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0002c0004t0001 a0001c0001t0001 a0001c0001t0004 a0002c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(19): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0004g0001 a0002c0004t0001g0021	22	240	0.0917	20	c.-50 others(37): Show c.-50-2521_-50-2520insGTTTTGTTTTGTTTTGTTTT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	1/7			chr1	TogoVar
BRIP1_chr17_61674139_61868528	61689026	C C	CTGTTATG others(13): Show CTGTTATGTTATGTTATGTTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00673.hp2 others(90): Show HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03710.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18981.hp1 NA18982.hp2 NA18985.hp2 NA19004.hp2 NA19011.hp1 NA19043.hp1 NA19060.hp2 NA19063.hp2 NA19067.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0001c0009 a0002c0003 others(5): Show a0001c0001 a0001c0009 a0002c0003 a0003c0006 a0004c0004 a0006c0012 a0007c0011 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0032 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0009t0022 a0002c0003t0005 a0002c0003t0013 a0002c0003t0014 a0002c0003t0019 a0002c0003t0020 a0002c0003t0040 a0002c0003t0060 a0003c0006t0005 a0004c0004t0014 a0006c0012t0001 a0007c0011t0002 a0008c0013t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(90): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0099 a0001c0001t0002g0003 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0104 a0001c0001t0002g0134 a0001c0001t0004g0162 a0001c0001t0004g0164 a0001c0001t0004g0173 a0001c0001t0004g0175 a0001c0001t0004g0177 a0001c0001t0004g0180 a0001c0001t0004g0198 a0001c0001t0004g0207 a0001c0001t0006g0152 a0001c0001t0006g0154 a0001c0001t0006g0172 a0001c0001t0006g0181 a0001c0001t0006g0195 a0001c0001t0006g0210 a0001c0001t0006g0233 a0001c0001t0006g0234 a0001c0001t0006g0237 a0001c0001t0008g0149 a0001c0001t0012g0015 a0001c0001t0015g0255 a0001c0001t0017g0142 a0001c0001t0017g0144 a0001c0001t0017g0145 a0001c0001t0018g0008 a0001c0001t0018g0010 a0001c0001t0018g0120 a0001c0001t0024g0116 a0001c0001t0025g0068 a0001c0001t0028g0231 a0001c0001t0028g0232 a0001c0001t0032g0141 a0001c0001t0035g0125 a0001c0001t0037g0033 a0001c0001t0038g0138 a0001c0001t0055g0209 a0001c0001t0056g0169 a0001c0001t0057g0179 a0001c0009t0022g0155 a0002c0003t0005g0043 a0002c0003t0005g0045 a0002c0003t0005g0050 a0002c0003t0005g0058 a0002c0003t0005g0060 a0002c0003t0005g0061 a0002c0003t0005g0069 a0002c0003t0005g0070 a0002c0003t0005g0071 a0002c0003t0005g0090 a0002c0003t0013g0016 a0002c0003t0013g0056 a0002c0003t0013g0086 a0002c0003t0014g0027 a0002c0003t0014g0028 a0002c0003t0014g0088 a0002c0003t0019g0051 a0002c0003t0019g0059 a0002c0003t0019g0072 a0002c0003t0020g0079 a0002c0003t0020g0081 a0002c0003t0020g0082 a0002c0003t0040g0080 a0002c0003t0060g0178 a0003c0006t0005g0074 a0003c0006t0005g0076 a0004c0004t0014g0039 a0006c0012t0001g0021 a0007c0011t0002g0096 a0008c0013t0001g0126	93	266	0.3496	20	c.257 others(39): Show c.2576-2881_2576-2862dupTAACATAACATAACATAACA	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	18/19			chr17	TogoVar
BRK1_chr3_10110675_10132190	10123732	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG01192.hp1 others(11): Show HG00741.hp1 HG01109.hp1 HG01192.hp1 HG02055.hp1 HG02257.hp2 HG02622.hp2 HG02647.hp1 HG02809.hp2 HG03041.hp1 HG03098.hp1 HG03654.hp2 NA19056.hp1 NA19080.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0050 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0100 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0003g0044 a0001c0001t0003g0047	14	356	0.0393	20	c.119 others(37): Show c.119-1892_119-1873dupTTTTTTTTTTTTTTTTTTTT	BRK1	ENSG00000254999.4	transcript	ENST00000530758.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRME1_chr19_13877348_13911117	13891135	T T	TTTTTTTT others(13): Show TTTTTTTTTTTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0198 a0002c0002t0004g0198	1	322	0.0031	20	c.394 others(35): Show c.394-674_394-673insTAATAATAATAAAAAAAAAA	BRME1	ENSG00000132016.12	transcript	ENST00000586783.6	protein_coding	5/8			chr19	TogoVar
BRMS1L_chr14_35821338_35876963	35852990	G G	GTATCTAT others(13): Show GTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02683.hp2 HG02809.hp1 HG01109.hp2 HG02683.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0125 a0001c0001t0001g0194 a0001c0001t0001g0195	3	374	0.0080	20	c.442 others(37): Show c.442-9592_442-9573dupCTATCTATCTATCTATCTAT	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
BRMS1L_chr14_35821338_35876963	35873189	G G	GTATATAT others(13): Show GTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG03239.hp2 homoSapiens_chm13v2.hp1 HG01169.hp2 HG03239.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0040 a0001c0001t0001g0255 a0001c0001t0001g0261	3	374	0.0080	20	c.27 others(31): Show c.2712_*2713insTATATATATATATATATATA	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding		1227		chr14	TogoVar
BRMS1L_chr14_35821338_35876963	35873189	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG03453.hp1 HG03486.hp1 HG02717.hp2 HG03453.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0060 a0001c0001t0001g0105 a0001c0001t0003g0008 a0001c0001t0001g0060 a0001c0001t0001g0105 a0001c0001t0003g0008	3	374	0.0080	20	c.27 others(31): Show c.2712_*2713insTGTATATATATATATATATA	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding		1227		chr14	TogoVar
BRSK2_chr11_1384934_1467689	1446050	G G	GGGCTGGG others(13): Show GGGCTGGGCTGGGCTGGGCTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0324 a0001c0001t0077g0324	1	360	0.0028	20	c.122 others(37): Show c.1226+164_1226+183dupGGCTGGGCTGGGCTGGGCTT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1466268	T T	TACACACA others(13): Show TACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01261.hp1 HG02273.hp1 others(4): Show HG01175.hp1 HG01261.hp1 HG02273.hp1 HG02735.hp2 HG03209.hp2 HG03453.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0001t0006 a0001c0001t0074 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0074 a0001c0016t0018	a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0006g0215 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0006g0215 a0001c0001t0006g0247 a0001c0001t0006g0251 a0001c0001t0074g0213 a0001c0016t0018g0183	7	360	0.0194	20	c.55 others(31): Show c.5545_*5546insACACACACACACACACACAC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding		3580		chr11	TogoVar
BRWD1_chr21_39180482_39318632	39185295	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0017 a0004c0003t0017	a0004c0003t0017g0011 a0004c0003t0017g0011	1	338	0.0030	20	c.10 others(33): Show c.10944_*10963dupTTTTTTTTTTTTTTTTTTTT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding		186		chr21	TogoVar
BRWD1_chr21_39180482_39318632	39207451	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18981.hp2 NA18962.hp2 NA18981.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0118 a0003c0004t0005g0125 a0003c0004t0005g0118 a0003c0004t0005g0125	2	338	0.0059	20	c.419 others(39): Show c.4198-1197_4198-1178dupGTGTGTGTGTGTGTGTGTGT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	36/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39244921	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01071.hp2 HG01081.hp1 others(22): Show HG00733.hp1 HG01071.hp2 HG01081.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01515.hp2 HG01928.hp2 HG01943.hp1 HG01981.hp2 HG02074.hp1 HG02293.hp2 HG03225.hp1 HG03490.hp2 HG03579.hp1 HG03831.hp1 NA18906.hp1 NA18960.hp2 NA18981.hp1 NA18984.hp1 NA19030.hp2 NA19056.hp2 NA19064.hp1 NA19070.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0004c0003 a0004c0006 others(2): Show a0001c0001 a0004c0003 a0004c0006 a0005c0007 a0006c0009	a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0001t0074 a0001c0001t0075 a0004c0003t0006 a0004c0003t0027 a0004c0003t0039 a0004c0006t0006 a0005c0007t0038 a0006c0009t0012	a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0297 others(22): Show a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0297 a0001c0001t0003g0299 a0001c0001t0003g0301 a0001c0001t0003g0308 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0314 a0001c0001t0004g0267 a0001c0001t0004g0279 a0001c0001t0004g0282 a0001c0001t0004g0287 a0001c0001t0016g0335 a0001c0001t0074g0338 a0001c0001t0075g0271 a0004c0003t0006g0140 a0004c0003t0006g0148 a0004c0003t0006g0153 a0004c0003t0006g0170 a0004c0003t0027g0005 a0004c0003t0039g0017 a0004c0006t0006g0146 a0005c0007t0038g0138 a0006c0009t0012g0086	25	338	0.0740	20	c.248 others(39): Show c.2481+2760_2481+2779dupATATATATATATATATATAT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	21/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39248641	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0234 a0002c0002t0001g0234	1	338	0.0030	20	c.235 others(37): Show c.2350-829_2350-810dupTTTTTTTTTTTTTTTTTTTT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	20/40			chr21	TogoVar
BRWD3_chrX_80664503_80814877	80700433	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00558.hp1 others(35): Show HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00621.hp1 HG00735.hp1 HG01109.hp1 HG01891.hp2 HG02080.hp2 HG02257.hp1 HG02280.hp1 HG02523.hp2 HG02559.hp1 HG02630.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03540.hp1 HG03927.hp1 NA18939.hp1 NA18940.hp1 NA18945.hp1 NA18947.hp1 NA18949.hp2 NA18954.hp2 NA18961.hp1 NA18967.hp1 NA18973.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18992.hp1 NA19004.hp1 NA19030.hp1 NA19056.hp1 NA19062.hp1 NA19065.hp2 NA19081.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 others(21): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0018 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0039 a0001c0001t0042 a0001c0001t0048 a0001c0001t0084 a0001c0001t0099 a0001c0001t0113 a0001c0001t0114 a0001c0001t0120 a0001c0001t0125 a0001c0001t0129 a0001c0001t0146 a0001c0001t0147 a0001c0001t0152 a0001c0001t0154 a0001c0007t0018	a0001c0001t0007g0060 a0001c0001t0007g0066 a0001c0001t0007g0067 others(35): Show a0001c0001t0007g0060 a0001c0001t0007g0066 a0001c0001t0007g0067 a0001c0001t0007g0068 a0001c0001t0007g0069 a0001c0001t0007g0070 a0001c0001t0008g0123 a0001c0001t0008g0126 a0001c0001t0008g0127 a0001c0001t0010g0078 a0001c0001t0010g0089 a0001c0001t0010g0090 a0001c0001t0018g0110 a0001c0001t0020g0136 a0001c0001t0026g0023 a0001c0001t0026g0024 a0001c0001t0027g0031 a0001c0001t0027g0033 a0001c0001t0029g0046 a0001c0001t0029g0047 a0001c0001t0030g0051 a0001c0001t0030g0052 a0001c0001t0039g0202 a0001c0001t0039g0203 a0001c0001t0042g0001 a0001c0001t0048g0007 a0001c0001t0084g0100 a0001c0001t0099g0152 a0001c0001t0113g0171 a0001c0001t0114g0172 a0001c0001t0120g0180 a0001c0001t0125g0185 a0001c0001t0129g0191 a0001c0001t0146g0249 a0001c0001t0147g0250 a0001c0001t0152g0255 a0001c0001t0154g0257 a0001c0007t0018g0109	38	265	0.1434	20	c.283 others(37): Show c.2836-370_2836-369insATATATATATATATATATAT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	24/40			chrX	TogoVar
BRWD3_chrX_80664503_80814877	80730389	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18906.hp1 NA18906.hp2 HG04184.hp1 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0106 a0001c0001t0118 a0001c0001t0080 a0001c0001t0106 a0001c0001t0118	a0001c0001t0080g0077 a0001c0001t0106g0164 a0001c0001t0118g0178 a0001c0001t0080g0077 a0001c0001t0106g0164 a0001c0001t0118g0178	3	265	0.0113	20	c.112 others(37): Show c.1128-389_1128-370dupCTTTCTTTCTTTCTTTCTTT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	12/40			chrX	TogoVar
BSG_chr19_567596_588493	570772	G G	GGGGGTGA others(13): Show GGGGGTGAGTGGGGGGGCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0002 a0008c0017t0002	a0008c0017t0002g0007 a0008c0017t0002g0007	1	306	0.0033	20	c.-18 others(31): Show c.-1863_-1862insGGGGTGAGTGGGGGGGCGGA	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1823		chr19	TogoVar
BSG_chr19_567596_588493	570772	G G	GGGGTGAG others(13): Show GGGGTGAGTGGGGGGGCGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0055 a0001c0003t0014g0055	1	306	0.0033	20	c.-18 others(31): Show c.-1863_-1862insGGGTGAGTGGGGGGGCGGGA	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1823		chr19	TogoVar
BSG_chr19_567596_588493	570772	G G	GGGGTGAG others(13): Show GGGGTGAGTGGGGGGGGCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01069.hp2 others(17): Show HG00639.hp1 HG00639.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01346.hp1 HG01346.hp2 HG01978.hp2 HG02004.hp1 HG02155.hp1 HG02155.hp2 HG02723.hp1 HG03017.hp1 HG03492.hp1 HG03834.hp1 NA18972.hp2 NA18979.hp1 NA18979.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0015 others(2): Show a0001c0001 a0001c0003 a0001c0015 a0001c0016 a0006c0019	a0001c0001t0002 a0001c0001t0005 a0001c0003t0004 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0003t0004 a0001c0015t0004 a0001c0016t0005 a0006c0019t0005	a0001c0001t0002g0002 a0001c0001t0002g0035 a0001c0001t0005g0005 others(11): Show a0001c0001t0002g0002 a0001c0001t0002g0035 a0001c0001t0005g0005 a0001c0001t0005g0040 a0001c0001t0005g0076 a0001c0001t0005g0078 a0001c0001t0005g0080 a0001c0001t0005g0081 a0001c0001t0005g0172 a0001c0003t0004g0003 a0001c0003t0004g0167 a0001c0015t0004g0065 a0001c0016t0005g0075 a0006c0019t0005g0005	20	306	0.0654	20	c.-18 others(31): Show c.-1863_-1862insGGGTGAGTGGGGGGGGCGGA	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1823		chr19	TogoVar
BSG_chr19_567596_588493	570772	G G	GGGTGTGA others(13): Show GGGTGTGAGTGGGGGGGCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0003 a0001c0003t0010g0003	1	306	0.0033	20	c.-18 others(31): Show c.-1863_-1862insGGTGTGAGTGGGGGGGCGGA	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1823		chr19	TogoVar
BSND_chr1_54993933_55022172	54996837	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0028 a0001c0001t0025g0028	2	448	0.0045	20	c.-23 others(31): Show c.-2350_-2349insTTTTTTTTTTTTTTTTTTTT	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding		2095		chr1	TogoVar
BSN_chr3_49549477_49676549	49587887	T T	TTTTTCTT others(13): Show TTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(28): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG01069.hp1 HG01071.hp1 HG01168.hp1 HG01258.hp2 HG01934.hp2 HG02004.hp1 HG02602.hp1 HG02622.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG03130.hp2 HG03139.hp1 HG03654.hp1 NA18951.hp2 NA18963.hp1 NA18963.hp2 NA19000.hp1 NA19003.hp2 NA19043.hp2 NA19065.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(7): Show a0001 a0002 a0005 a0006 a0011 a0012 a0020 a0021 a0024 a0025	a0001c0001 a0001c0017 a0002c0002 others(8): Show a0001c0001 a0001c0017 a0002c0002 a0005c0007 a0006c0005 a0011c0010 a0012c0011 a0020c0030 a0021c0025 a0024c0029 a0025c0036	a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 a0001c0017t0002 a0002c0002t0001 a0005c0007t0007 a0006c0005t0008 a0011c0010t0001 a0012c0011t0001 a0020c0030t0002 a0021c0025t0028 a0024c0029t0003 a0025c0036t0001	a0001c0001t0002g0097 a0001c0001t0002g0105 a0001c0001t0002g0115 others(28): Show a0001c0001t0002g0097 a0001c0001t0002g0105 a0001c0001t0002g0115 a0001c0001t0002g0141 a0001c0001t0002g0147 a0001c0001t0002g0161 a0001c0001t0003g0048 a0001c0001t0003g0118 a0001c0001t0003g0123 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0026g0146 a0001c0017t0002g0106 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0086 a0005c0007t0007g0002 a0006c0005t0008g0064 a0006c0005t0008g0068 a0006c0005t0008g0069 a0006c0005t0008g0162 a0011c0010t0001g0165 a0012c0011t0001g0066 a0020c0030t0002g0143 a0021c0025t0028g0101 a0024c0029t0003g0049 a0025c0036t0001g0060	31	186	0.1667	20	c.224 others(39): Show c.224+33086_224+33105dupCTTTTCTTTTCTTTTCTTTT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49613303	C C	CGAGAGAG others(13): Show CGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG01109.hp1 others(7): Show HG00280.hp1 HG00642.hp2 HG01109.hp1 HG02572.hp1 HG03516.hp2 HG03654.hp1 NA18991.hp2 NA19012.hp2 NA19065.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0015 a0001c0001 a0002c0002 a0008c0015	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0031 a0002c0002t0001 a0008c0015t0002	a0001c0001t0002g0105 a0001c0001t0002g0133 a0001c0001t0002g0177 others(7): Show a0001c0001t0002g0105 a0001c0001t0002g0133 a0001c0001t0002g0177 a0001c0001t0003g0130 a0001c0001t0003g0137 a0001c0001t0003g0153 a0001c0001t0012g0136 a0001c0001t0031g0142 a0002c0002t0001g0163 a0008c0015t0002g0103	10	186	0.0538	20	c.225 others(39): Show c.225-11645_225-11626dupGAGAGAGAGAGAGAGAGAGA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49673087	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG02735.hp2 NA18979.hp2 HG01934.hp2 HG02735.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0003 a0001c0001t0011 a0001c0016t0003 a0001c0001t0003 a0001c0001t0011 a0001c0016t0003	a0001c0001t0003g0118 a0001c0001t0011g0098 a0001c0016t0003g0164 a0001c0001t0003g0118 a0001c0001t0011g0098 a0001c0016t0003g0164	3	186	0.0161	20	c.56 others(31): Show c.5602_*5603insTTTTTTTTTTTTTTTTTTTT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding		1539		chr3	TogoVar
BSPH1_chr19_47963046_47997170	47963893	C C	CTTTCTTT others(13): Show CTTTCTTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA19084.hp1 NA18974.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0372 a0001c0001t0001g0285 a0001c0001t0001g0372	2	444	0.0045	20	c.43 others(31): Show c.4318_*4319insAGAAAAGAAAAGAAAAGAAA	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding		4152		chr19	TogoVar
BSPH1_chr19_47963046_47997170	47969682	G G	GGAGAGAG others(13): Show GGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	444	0.0023	20	c.3- others(35): Show c.3-1474_*3-1473insTCTCTCTCTCTCTCTCTCTC	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	5/5			chr19	TogoVar

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