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
BRINP1_chr9_119161629_119374435	119174017	C C	CCTAAAAC others(15): Show CCTAAAACCATAAAAACCCTAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00544.hp2 others(124): Show HG00099.hp1 HG00140.hp1 HG00544.hp2 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18946.hp2 NA18953.hp1 NA18961.hp2 NA18966.hp1 NA18977.hp1 NA18989.hp1 NA18993.hp1 NA18994.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19070.hp1 NA19070.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0015 a0002c0013 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0009 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0009t0001 a0001c0010t0001 a0001c0015t0001 a0002c0013t0003 a0003c0008t0001	a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 others(124): Show a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0184 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0002g0220 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0003g0009 a0001c0001t0005g0215 a0001c0001t0005g0217 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0059 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0077 a0001c0002t0001g0089 a0001c0002t0001g0093 a0001c0002t0001g0097 a0001c0002t0001g0114 a0001c0002t0001g0119 a0001c0002t0001g0131 a0001c0002t0001g0135 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0149 a0001c0002t0001g0165 a0001c0002t0001g0168 a0001c0002t0001g0171 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0218 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0003g0005 a0001c0002t0003g0007 a0001c0002t0003g0012 a0001c0003t0001g0020 a0001c0003t0001g0022 a0001c0003t0001g0040 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0045 a0001c0003t0001g0047 a0001c0003t0001g0060 a0001c0003t0001g0073 a0001c0003t0001g0085 a0001c0003t0001g0094 a0001c0003t0001g0107 a0001c0003t0001g0122 a0001c0003t0001g0139 a0001c0003t0001g0151 a0001c0003t0001g0175 a0001c0003t0001g0178 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0001g0211 a0001c0003t0001g0213 a0001c0003t0002g0223 a0001c0003t0002g0226 a0001c0003t0002g0227 a0001c0003t0002g0228 a0001c0003t0002g0230 a0001c0003t0002g0233 a0001c0003t0008g0185 a0001c0003t0009g0214 a0001c0004t0001g0016 a0001c0004t0001g0074 a0001c0004t0001g0164 a0001c0004t0001g0177 a0001c0004t0001g0188 a0001c0004t0002g0232 a0001c0005t0001g0192 a0001c0005t0001g0199 a0001c0005t0001g0201 a0001c0005t0001g0210 a0001c0005t0002g0236 a0001c0006t0001g0017 a0001c0006t0001g0018 a0001c0006t0001g0019 a0001c0006t0001g0021 a0001c0006t0002g0225 a0001c0009t0001g0191 a0001c0010t0001g0098 a0001c0015t0001g0133 a0002c0013t0003g0006 a0003c0008t0001g0174	127	236	0.5381	22	c.114 others(41): Show c.1146-5794_1146-5793insTCTAGGGTTTTTATGGTTTTAG	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	7/7			chr9	TogoVar
BRINP1_chr9_119161629_119374435	119367217	G G	GTGTGATA others(15): Show GTGTGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0187 a0001c0003t0001g0187	1	236	0.0042	22	c.-51 others(39): Show c.-51+1838_-51+1839insATATATATATATATATATCACA	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	1/7			chr9	TogoVar
BRINP1_chr9_119161629_119374435	119367221	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02074.hp2 HG06807.hp2 others(2): Show HG01978.hp1 HG02074.hp2 HG06807.hp2 NA18961.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0002t0001g0154 others(2): Show a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0219 a0001c0003t0001g0151	5	236	0.0212	22	c.-51 others(39): Show c.-51+1813_-51+1834dupATATATATATATATATATATAT	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	1/7			chr9	TogoVar
BRINP2_chr1_177165958_177287422	177200293	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0161	1	252	0.0040	22	c.-77 others(41): Show c.-77+28569_-77+28590dupAAAAAAAAAAAAAAAAAAAAAA	BRINP2	ENSG00000198797.7	transcript	ENST00000361539.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
BRINP3_chr1_190092658_190482864	190277087	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00741.hp1 HG01358.hp1 others(20): Show HG00408.hp1 HG00741.hp1 HG01358.hp1 HG01361.hp2 HG02027.hp2 HG02055.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02602.hp1 HG03654.hp1 HG03704.hp2 HG04228.hp1 HG04228.hp2 NA18939.hp1 NA18971.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19009.hp2 NA19043.hp1 NA19054.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0023 a0001c0001t0001g0036 a0001c0001t0001g0037 others(20): Show a0001c0001t0001g0023 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0140 a0001c0001t0001g0199 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0220 a0001c0001t0002g0232 a0001c0001t0003g0004 a0001c0001t0003g0008 a0001c0001t0005g0003	23	240	0.0958	22	c.427 others(39): Show c.427+4451_427+4472dupTATATATATATATATATATATA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	3/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190277113	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02135.hp2 HG02895.hp1 others(6): Show HG01891.hp2 HG02135.hp2 HG02895.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG04204.hp1 NA18948.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0082 others(6): Show a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0108 a0001c0001t0001g0144 a0001c0001t0001g0183 a0001c0001t0001g0194 a0001c0001t0002g0236	9	240	0.0375	22	c.427 others(39): Show c.427+4446_427+4447insAATATATATATATATATATATA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	3/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190277113	A A	ATATATAT others(15): Show ATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	240	0.0042	22	c.427 others(39): Show c.427+4446_427+4447insAATAAATATATATATATATATA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	3/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190277115	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	240	0.0042	22	c.427 others(39): Show c.427+4444_427+4445insAATATATATATATATATATATA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	3/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190396713	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01891.hp1 HG02132.hp1 others(9): Show HG00621.hp1 HG01891.hp1 HG02132.hp1 HG02572.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG03209.hp2 HG03471.hp2 HG03688.hp2 NA18963.hp1 NA19054.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0003c0003t0001	a0001c0001t0001g0020 a0001c0001t0001g0161 a0001c0001t0001g0165 others(9): Show a0001c0001t0001g0020 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0188 a0001c0001t0001g0196 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0234 a0001c0001t0008g0166 a0001c0001t0010g0240 a0003c0003t0001g0177	12	240	0.0500	22	c.236 others(41): Show c.236+57920_236+57941dupATATATATATATATATATATAT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRIP1_chr17_61674139_61868528	61772167	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0247 a0001c0001t0008g0247	1	266	0.0038	22	c.209 others(41): Show c.2097+4233_2097+4234insAATATATATATATATATATATA	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19			chr17	TogoVar
BRIP1_chr17_61674139_61868528	61846246	A A	AAGAGAGA others(15): Show AAGAGAGAGAGAGAGAAAGAGAG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0034 a0002c0002t0009g0034	1	266	0.0038	22	c.627 others(37): Show c.627+833_627+854dupCTCTCTTTCTCTCTCTCTCTCT	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	6/19			chr17	TogoVar
BRK1_chr3_10110675_10132190	10123732	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02572.hp2 HG02258.hp2 HG02280.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0106 a0001c0001t0001g0030 a0001c0001t0001g0106	3	356	0.0084	22	c.119 others(39): Show c.119-1873_119-1872insTTTTTTTTTTTTTTTTTTTTTT	BRK1	ENSG00000254999.4	transcript	ENST00000530758.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRMS1L_chr14_35821338_35876963	35841998	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	374	0.0027	22	c.441 others(39): Show c.441+7093_441+7094insTTTTTTTTTTTTTTTTTTTTTT	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(15): Show GTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	374	0.0027	22	c.27 others(33): Show c.2712_*2713insTATATATATATATATATATATA	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding		1227		chr14	TogoVar
BRMS1L_chr14_35821338_35876963	35873189	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	374	0.0027	22	c.27 others(33): Show c.2712_*2713insTGTATATATATATATATATATA	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding		1227		chr14	TogoVar
BRSK2_chr11_1384934_1467689	1466268	T T	TACACACA others(15): Show TACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(62): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00558.hp2 HG00735.hp1 HG01070.hp2 HG01123.hp1 HG01256.hp1 HG01361.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02155.hp2 HG02293.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03669.hp1 HG04228.hp1 NA18906.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp2 NA19043.hp1 NA19064.hp2 NA19067.hp2 NA19074.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19088.hp1 NA19088.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0024 a0001c0001t0025 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0059 a0001c0001t0061 a0001c0001t0062 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0057 others(62): Show a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0168 a0001c0001t0001g0312 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0003g0199 a0001c0001t0003g0230 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0263 a0001c0001t0003g0267 a0001c0001t0003g0271 a0001c0001t0004g0106 a0001c0001t0004g0136 a0001c0001t0004g0173 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0314 a0001c0001t0004g0316 a0001c0001t0006g0197 a0001c0001t0006g0214 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0006g0282 a0001c0001t0009g0068 a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0001t0009g0120 a0001c0001t0009g0122 a0001c0001t0009g0128 a0001c0001t0011g0295 a0001c0001t0011g0303 a0001c0001t0024g0292 a0001c0001t0024g0299 a0001c0001t0025g0143 a0001c0001t0025g0147 a0001c0001t0043g0050 a0001c0001t0044g0016 a0001c0001t0046g0083 a0001c0001t0059g0041 a0001c0001t0061g0266 a0001c0001t0062g0257 a0001c0003t0001g0115 a0001c0003t0001g0146 a0001c0003t0001g0335 a0001c0003t0001g0336 a0001c0003t0001g0338 a0001c0003t0001g0341 a0001c0003t0003g0291	65	360	0.1806	22	c.55 others(33): Show c.5545_*5546insACACACACACACACACACACAC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding		3580		chr11	TogoVar
BRWD1_chr21_39180482_39318632	39207451	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0026 a0004c0003t0026	a0004c0003t0026g0001 a0004c0003t0026g0001	1	338	0.0030	22	c.419 others(41): Show c.4198-1199_4198-1178dupGTGTGTGTGTGTGTGTGTGTGT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	36/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39244921	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01496.hp2 HG01943.hp2 others(8): Show HG01255.hp1 HG01496.hp2 HG01943.hp2 HG02004.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02698.hp2 HG04199.hp2 NA18945.hp1 NA18953.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0011	a0001c0001 a0003c0004 a0004c0006 others(1): Show a0001c0001 a0003c0004 a0004c0006 a0011c0026	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0073 a0003c0004t0014 a0004c0006t0006 a0011c0026t0004	a0001c0001t0002g0062 a0001c0001t0003g0318 a0001c0001t0004g0268 others(8): Show a0001c0001t0002g0062 a0001c0001t0003g0318 a0001c0001t0004g0268 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0277 a0001c0001t0004g0285 a0001c0001t0073g0323 a0003c0004t0014g0328 a0004c0006t0006g0152 a0011c0026t0004g0288	11	338	0.0325	22	c.248 others(41): Show c.2481+2758_2481+2779dupATATATATATATATATATATAT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	21/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39312978	C C	CGGGCGGC others(15): Show CGGGCGGCGGGCGGGGGGCCGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(65): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00673.hp1 HG00733.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02293.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG03041.hp1 HG03516.hp2 HG03654.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18943.hp2 NA18953.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18990.hp2 NA18994.hp2 NA19003.hp2 NA19006.hp1 NA19011.hp1 NA19012.hp2 NA19056.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19081.hp2 NA19087.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0008 a0001c0020 others(2): Show a0001c0001 a0001c0008 a0001c0020 a0001c0024 a0009c0022	a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 others(14): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0001t0061 a0001c0001t0062 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0068 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0008t0003 a0001c0020t0003 a0001c0024t0067 a0009c0022t0004	a0001c0001t0003g0270 a0001c0001t0003g0293 a0001c0001t0003g0294 others(65): Show a0001c0001t0003g0270 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0301 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0320 a0001c0001t0003g0322 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0004g0257 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0292 a0001c0001t0016g0335 a0001c0001t0061g0265 a0001c0001t0062g0280 a0001c0001t0064g0258 a0001c0001t0065g0259 a0001c0001t0066g0310 a0001c0001t0068g0309 a0001c0001t0071g0321 a0001c0001t0073g0323 a0001c0001t0074g0338 a0001c0001t0075g0271 a0001c0008t0003g0300 a0001c0008t0003g0316 a0001c0008t0003g0319 a0001c0020t0003g0326 a0001c0024t0067g0302 a0009c0022t0004g0256	68	338	0.2012	22	c.139 others(35): Show c.139-79_139-78insCCCGGCCCCCCGCCCGCCGCCC	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	3/40			chr21	TogoVar
BRWD3_chrX_80664503_80814877	80700433	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01167.hp1 HG01169.hp1 others(15): Show HG00639.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01884.hp1 HG01981.hp2 HG02109.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02886.hp2 HG03453.hp2 HG03516.hp1 HG03540.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0008 a0001c0001t0010 a0001c0001t0018 others(11): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0031 a0001c0001t0033 a0001c0001t0045 a0001c0001t0061 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0140 a0001c0004t0103	a0001c0001t0008g0124 a0001c0001t0010g0083 a0001c0001t0018g0108 others(15): Show a0001c0001t0008g0124 a0001c0001t0010g0083 a0001c0001t0018g0108 a0001c0001t0021g0141 a0001c0001t0021g0142 a0001c0001t0022g0156 a0001c0001t0022g0158 a0001c0001t0022g0159 a0001c0001t0031g0092 a0001c0001t0031g0093 a0001c0001t0033g0113 a0001c0001t0045g0004 a0001c0001t0061g0027 a0001c0001t0110g0168 a0001c0001t0111g0169 a0001c0001t0112g0170 a0001c0001t0140g0217 a0001c0004t0103g0161	18	265	0.0679	22	c.283 others(39): Show c.2836-370_2836-369insATATATATATATATATATATAT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	24/40			chrX	TogoVar
BSCL2_chr11_62685275_62712424	62696278	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	330	0.0030	22	c.487 others(39): Show c.487-1589_487-1568dupCACACACACACACACACACACA	BSCL2	ENSG00000168000.16	transcript	ENST00000360796.10	protein_coding	3/10			chr11	TogoVar
BSG_chr19_567596_588493	570781	T T	TGGGAGGG others(15): Show TGGGAGGGGCGGAGGGGCGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	306	0.0033	22	c.-18 others(33): Show c.-1854_-1853insGGGAGGGGCGGAGGGGCGGGTG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1814		chr19	TogoVar
BSND_chr1_54993933_55022172	54996837	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0014 a0001c0001t0056g0014	1	448	0.0022	22	c.-23 others(33): Show c.-2350_-2349insTTTTTTTTTTTTTTTTTTTTTT	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding		2095		chr1	TogoVar
BSN_chr3_49549477_49676549	49613303	C C	CAAGAGAG others(15): Show CAAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0036 a0004c0006t0002g0036	1	186	0.0054	22	c.225 others(41): Show c.225-11672_225-11671insAAGAGAGAGAGAGAGAGAGAGA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11			chr3	TogoVar
BSN_chr3_49549477_49676549	49613303	C C	CGAGAGAG others(15): Show CGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00735.hp1 others(9): Show HG00140.hp2 HG00639.hp1 HG00735.hp1 HG01081.hp2 HG01192.hp1 HG01928.hp2 HG02300.hp2 HG03710.hp1 NA18612.hp2 NA18944.hp1 NA18951.hp1 NA18973.hp1	a0001 a0002 a0009 others(3): Show a0001 a0002 a0009 a0016 a0023 a0025	a0001c0001 a0002c0002 a0009c0014 others(3): Show a0001c0001 a0002c0002 a0009c0014 a0016c0021 a0023c0028 a0025c0036	a0001c0001t0002 a0001c0001t0009 a0002c0002t0001 others(4): Show a0001c0001t0002 a0001c0001t0009 a0002c0002t0001 a0009c0014t0009 a0016c0021t0002 a0023c0028t0003 a0025c0036t0001	a0001c0001t0002g0107 a0001c0001t0009g0094 a0001c0001t0009g0149 others(9): Show a0001c0001t0002g0107 a0001c0001t0009g0094 a0001c0001t0009g0149 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0171 a0002c0002t0001g0172 a0009c0014t0009g0042 a0009c0014t0009g0099 a0016c0021t0002g0111 a0023c0028t0003g0150 a0025c0036t0001g0060	12	186	0.0645	22	c.225 others(41): Show c.225-11647_225-11626dupGAGAGAGAGAGAGAGAGAGAGA	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(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0158 a0001c0001t0029g0158	1	186	0.0054	22	c.56 others(33): Show c.5602_*5603insTTTTTTTTTTTTTTTTTTTTTT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding		1539		chr3	TogoVar
BSPH1_chr19_47963046_47997170	47969684	G G	GGAGAGAG others(15): Show GGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02080.hp2 HG03710.hp1 others(3): Show HG00673.hp2 HG02080.hp2 HG03710.hp1 NA18940.hp1 NA19066.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0086 a0001c0001t0001g0180 a0001c0001t0001g0189 others(3): Show a0001c0001t0001g0086 a0001c0001t0001g0180 a0001c0001t0001g0189 a0001c0001t0001g0339 a0002c0002t0001g0033 a0002c0002t0001g0037	6	444	0.0135	22	c.3- others(37): Show c.3-1497_*3-1476dupTCTCTCTCTCTCTCTCTCTCTC	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	5/5			chr19	TogoVar
BSPH1_chr19_47963046_47997170	47978001	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19077.hp1 NA19056.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0243 a0001c0001t0002g0358 a0001c0001t0001g0243 a0001c0001t0002g0358	2	444	0.0045	22	c.125 others(37): Show c.125-519_125-498dupATATATATATATATATATATAT	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	3/5			chr19	TogoVar
BSPRY_chr9_113344541_113376222	113352480	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG01071.hp2 others(1): Show HG00642.hp1 HG01069.hp1 HG01071.hp2 NA18979.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0010 a0002c0003t0013 a0002c0003t0006 a0002c0003t0010 a0002c0003t0013	a0002c0003t0006g0058 a0002c0003t0006g0285 a0002c0003t0010g0211 others(1): Show a0002c0003t0006g0058 a0002c0003t0006g0285 a0002c0003t0010g0211 a0002c0003t0013g0058	4	448	0.0089	22	c.202 others(39): Show c.202-1758_202-1737dupCACACACACACACACACACACA	BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
BST2_chr19_17397939_17410630	17410496	T T	TTATATAT others(15): Show TTATATATGTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	412	0.0024	22	c.-49 others(33): Show c.-4922_-4921insTATATATATATATACATATATA	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4867		chr19	TogoVar
BTAF1_chr10_91918770_92036437	91991265	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	330	0.0030	22	c.285 others(39): Show c.2855-849_2855-848insTATATATATATATATATATATA	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92032009	C C	CTTCTTTT others(15): Show CTTCTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	330	0.0030	22	c.30 others(33): Show c.3076_*3077insTTCTTTTTTTTTTTTTTTTTTT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding		573		chr10	TogoVar
BTAF1_chr10_91918770_92036437	92032009	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	330	0.0030	22	c.30 others(33): Show c.3076_*3077insTTTTTTTTTTTTTTTTTTTTTT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding		573		chr10	TogoVar
BTBD16_chr10_122266296_122343159	122273221	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01496.hp1 HG03195.hp1 HG01168.hp2 HG01496.hp1 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0312 a0001c0001t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0312	3	382	0.0079	22	c.-43 others(39): Show c.-43+1711_-43+1732dupTATATATATATATATATATATA	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(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01516.hp2 HG00639.hp1 HG01516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	2	382	0.0052	22	c.167 others(39): Show c.167+2586_167+2607dupCACACACACACACACACACACA	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(15): Show AGTGTGTGTGTGTGTGTGTATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	444	0.0023	22	c.-26 others(33): Show c.-2655_-2654insACATACACACACACACACACAC	BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding		2606		chr17	TogoVar
BTBD17_chr17_74351416_74366868	74364473	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0005	2	444	0.0045	22	c.-26 others(33): Show c.-2655_-2654insACACACACACACACACACACAC	BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding		2606		chr17	TogoVar
BTBD17_chr17_74351416_74366868	74365044	C C	CATATATA others(15): Show CATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02572.hp1 HG03471.hp2 others(6): Show HG01934.hp2 HG02572.hp1 HG03471.hp2 HG03927.hp2 NA18939.hp2 NA18946.hp2 NA18960.hp1 NA18965.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0034 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0003t0001g0011 a0002c0002t0001g0004 a0002c0002t0001g0015 a0002c0002t0001g0058	9	444	0.0203	22	c.-32 others(33): Show c.-3226_-3225insATATATATATATATATATATAT	BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding		3177		chr17	TogoVar
BTBD19_chr1_44803523_44820585	44814150	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0123 a0001c0001t0123	a0001c0001t0123g0009 a0001c0001t0123g0009	1	436	0.0023	22	c.38 others(31): Show c.380_*401dupTTCTTTCTTTCTTTCTTTCTTT	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(15): Show CTTTCTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp1 NA18974.hp1 NA19012.hp2 others(1): Show HG03225.hp1 NA18974.hp1 NA19012.hp2 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0107 a0001c0001t0036 a0001c0001t0107	a0001c0001t0036g0006 a0001c0001t0107g0065 a0001c0001t0036g0006 a0001c0001t0107g0065	4	436	0.0092	22	c.43 others(31): Show c.432_*453dupTTCTTTCTTTTTCTTTCTTTCT	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding	8/8	454	INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD1_chr15_83011423_83072252	83042348	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp2 HG01346.hp2 others(7): Show HG01175.hp1 HG01243.hp2 HG01346.hp2 HG01433.hp1 HG02145.hp1 HG02257.hp2 HG02451.hp1 HG02630.hp2 HG02698.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0002c0002t0003	a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0236 others(7): Show a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0003g0082 a0001c0001t0003g0103 a0001c0001t0006g0087 a0001c0001t0006g0096 a0001c0001t0006g0102 a0001c0001t0006g0104 a0002c0002t0003g0120	10	328	0.0305	22	c.665 others(37): Show c.665-445_665-424dupTATATATATATATATATATATA	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	3/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83051873	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	328	0.0031	22	c.559 others(39): Show c.559-1696_559-1695insGTGTGTGTGTGTGTGTGTGTGT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83051875	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	328	0.0031	22	c.559 others(39): Show c.559-1698_559-1697insGTGTGTGTGTGTGTGTGTGTGT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83051877	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG01109.hp2 others(7): Show HG00099.hp2 HG00642.hp2 HG01109.hp2 HG01891.hp2 HG02486.hp1 HG02602.hp1 HG02647.hp1 HG03579.hp1 NA18994.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0001c0001t0001 a0001c0001t0002 a0001c0004t0002	a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0147 others(7): Show a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0002g0030 a0001c0001t0002g0036 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0115 a0001c0004t0002g0061	10	328	0.0305	22	c.559 others(39): Show c.559-1721_559-1700dupGTGTGTGTGTGTGTGTGTGTGT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7			chr15	TogoVar
BTBD2_chr19_1980448_2020714	2016040	A A	AGGGAGGG others(15): Show AGGGAGGGGAAAGGAGGGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0210 a0003c0006t0002g0210	1	364	0.0028	22	c.-35 others(31): Show c.-359_-338dupACCTCCCCTCCTTTCCCCTCCC	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding		327		chr19	TogoVar
BTBD7_chr14_93232550_93338036	93333241	C C	CCGGGCGT others(15): Show CCGGGCGTCGGGTCGCTGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp2 others(88): Show HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00673.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01168.hp2 HG01243.hp2 HG01346.hp1 HG01515.hp1 HG01975.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp1 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03492.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG04228.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp2 NA18987.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19004.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19089.hp2 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0005 a0006c0010 a0001c0001 a0001c0005 a0006c0010	a0001c0001t0002 a0001c0001t0032 a0001c0001t0033 others(8): Show a0001c0001t0002 a0001c0001t0032 a0001c0001t0033 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0005t0002 a0006c0010t0002	a0001c0001t0002g0002 a0001c0001t0002g0285 a0001c0001t0002g0286 others(87): Show a0001c0001t0002g0002 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0001t0002g0367 a0001c0001t0002g0370 a0001c0001t0002g0372 a0001c0001t0002g0373 a0001c0001t0032g0368 a0001c0001t0032g0369 a0001c0001t0033g0292 a0001c0001t0033g0294 a0001c0001t0059g0287 a0001c0001t0060g0354 a0001c0001t0061g0306 a0001c0001t0062g0371 a0001c0001t0063g0304 a0001c0001t0064g0293 a0001c0005t0002g0289 a0006c0010t0002g0288	91	375	0.2427	22	c.-55 others(31): Show c.-550_-529dupACTCCCAGCGACCCGACGCCCG	BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding		206		chr14	TogoVar
BTBD9_chr6_38163451_38644929	38302485	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0026 a0001c0001t0019g0026	1	224	0.0045	22	c.126 others(43): Show c.1265-14046_1265-14025dupTATATATATATATATATATATA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38435615	C C	CTTCCCTC others(15): Show CTTCCCTCCCTCCCTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01433.hp2 HG01993.hp2 others(10): Show HG01175.hp2 HG01433.hp2 HG01993.hp2 HG02129.hp1 HG02155.hp1 HG03654.hp2 HG03831.hp1 NA18957.hp1 NA18957.hp2 NA18978.hp2 NA19000.hp1 NA19088.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0030 others(10): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0030 a0001c0001t0036 a0001c0001t0047 a0001c0001t0077 a0001c0001t0080 a0001c0001t0084 a0001c0001t0098 a0001c0001t0109 a0001c0001t0110 a0001c0001t0143 a0001c0001t0149	a0001c0001t0001g0101 a0001c0001t0008g0054 a0001c0001t0030g0040 others(10): Show a0001c0001t0001g0101 a0001c0001t0008g0054 a0001c0001t0030g0040 a0001c0001t0036g0205 a0001c0001t0047g0100 a0001c0001t0077g0061 a0001c0001t0080g0140 a0001c0001t0084g0068 a0001c0001t0098g0079 a0001c0001t0109g0032 a0001c0001t0110g0110 a0001c0001t0143g0043 a0001c0001t0149g0055	13	224	0.0580	22	c.115 others(43): Show c.1155-90523_1155-90522insAGGGAGGGAGGGAGGGAGGGAA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38435617	T T	TCCCCTCC others(15): Show TCCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0118	a0001c0001t0118g0049 a0001c0001t0118g0049	1	224	0.0045	22	c.115 others(43): Show c.1155-90525_1155-90524insGAGGGAGGGAGGGAGGGAGGGG	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38557015	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0142 a0001c0001t0142	a0001c0001t0142g0002 a0001c0001t0142g0002	1	224	0.0045	22	c.115 others(43): Show c.1154+20563_1154+20584dupTTTTTTTTTTTTTTTTTTTTTT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar

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