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
BBS2_chr16_56479385_56525024	56480355	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG02109.hp2 HG03831.hp1 others(1): Show HG01981.hp2 HG02109.hp2 HG03831.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0082 a0001c0001t0001g0087 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0092	4	398	0.0101	15	c.44 others(26): Show c.4405_*4406insGTTTTTTTTTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4029		chr16	TogoVar
BBS4_chr15_72681207_72743473	72687124	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01891.hp2 HG01978.hp1 others(8): Show HG01361.hp2 HG01891.hp2 HG01978.hp1 HG02027.hp2 HG02135.hp2 HG03669.hp2 HG03831.hp2 HG03942.hp2 NA18989.hp1 NA18990.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 others(8): Show a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0005g0144	11	398	0.0276	15	c.24+ others(28): Show c.24+883_24+884insTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72688411	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA18954.hp2 HG00733.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0076 a0001c0001t0001g0077	2	398	0.0050	15	c.24+ others(30): Show c.24+2166_24+2180dupTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS9_chr7_33124564_33611069	33218184	A A	AAAATTAC others(8): Show AAAATTACAAGTAAGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	268	0.0037	15	c.443 others(34): Show c.443-39052_443-39051insAAATTACAAGTAAGT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22			chr7	TogoVar
BBS9_chr7_33124564_33611069	33565839	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG03579.hp2 HG02257.hp2 HG02559.hp1 HG03579.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0001c0001t0001 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0229 a0002c0002t0001g0138 a0004c0004t0001g0182 a0001c0001t0001g0229 a0002c0002t0001g0138 a0004c0004t0001g0182	3	268	0.0112	15	c.252 others(36): Show c.2521+31663_2521+31664insTATATATATATATAT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22			chr7	TogoVar
BBS9_chr7_33124564_33611069	33565844	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0095 a0001c0001t0001g0096	2	268	0.0075	15	c.252 others(36): Show c.2521+31668_2521+31669insATATATATATATATA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22			chr7	TogoVar
BBS9_chr7_33124564_33611069	33590459	G G	GTTTTTTT others(8): Show GTTTTTTTGTTTTTGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp1 HG01255.hp1 others(71): Show HG00733.hp2 HG00738.hp1 HG01255.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG02015.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02818.hp1 HG02886.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18949.hp1 NA18951.hp2 NA18955.hp1 NA18957.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18982.hp2 NA18995.hp1 NA19030.hp2 NA19043.hp2 NA19077.hp2 NA19081.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009 a0012	a0001c0001 a0001c0010 a0001c0026 others(9): Show a0001c0001 a0001c0010 a0001c0026 a0002c0002 a0002c0017 a0003c0003 a0004c0004 a0004c0022 a0006c0005 a0007c0006 a0009c0008 a0012c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0010t0001 a0001c0026t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0014 a0002c0017t0001 a0003c0003t0001 a0004c0004t0001 a0004c0022t0001 a0006c0005t0007 a0007c0006t0005 a0009c0008t0001 a0012c0018t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0049 others(71): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0256 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0002g0147 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0005g0059 a0001c0001t0005g0066 a0001c0001t0005g0202 a0001c0001t0007g0228 a0001c0001t0008g0232 a0001c0001t0012g0212 a0001c0001t0012g0213 a0001c0001t0013g0041 a0001c0001t0013g0042 a0001c0001t0017g0226 a0001c0010t0001g0084 a0001c0010t0001g0167 a0001c0026t0001g0068 a0002c0002t0001g0130 a0002c0002t0001g0138 a0002c0002t0001g0189 a0002c0002t0001g0193 a0002c0002t0001g0224 a0002c0002t0003g0018 a0002c0002t0003g0023 a0002c0002t0003g0026 a0002c0002t0005g0192 a0002c0002t0014g0005 a0002c0002t0014g0029 a0002c0017t0001g0267 a0003c0003t0001g0205 a0004c0004t0001g0182 a0004c0004t0001g0183 a0004c0004t0001g0184 a0004c0022t0001g0185 a0006c0005t0007g0139 a0007c0006t0005g0091 a0009c0008t0001g0122 a0012c0018t0001g0127	74	268	0.2761	15	c.252 others(36): Show c.2522-14399_2522-14398insGTTTTTGTTTTTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107652377	T T	TGTAAAAT others(8): Show TGTAAAATTTAAATTC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01175.hp1 others(43): Show HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01346.hp2 HG01358.hp2 HG01516.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02257.hp1 HG02293.hp2 HG02451.hp2 HG02630.hp2 HG02818.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03490.hp1 HG03492.hp1 HG03688.hp1 HG03710.hp2 HG04199.hp1 HG04228.hp1 NA18906.hp1 NA18962.hp1 NA18963.hp1 NA18988.hp2 NA18994.hp2 NA19070.hp2 NA19088.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0001t0036 a0001c0001t0041 a0001c0001t0046 a0001c0001t0049 a0001c0001t0056 a0001c0004t0030 a0002c0002t0002 a0007c0009t0007	a0001c0001t0001g0018 a0001c0001t0001g0093 a0001c0001t0001g0154 others(43): Show a0001c0001t0001g0018 a0001c0001t0001g0093 a0001c0001t0001g0154 a0001c0001t0001g0168 a0001c0001t0001g0206 a0001c0001t0001g0217 a0001c0001t0002g0031 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0162 a0001c0001t0002g0169 a0001c0001t0002g0209 a0001c0001t0003g0069 a0001c0001t0003g0135 a0001c0001t0003g0202 a0001c0001t0004g0145 a0001c0001t0006g0096 a0001c0001t0006g0151 a0001c0001t0006g0175 a0001c0001t0007g0066 a0001c0001t0007g0067 a0001c0001t0007g0134 a0001c0001t0007g0137 a0001c0001t0007g0164 a0001c0001t0007g0205 a0001c0001t0009g0088 a0001c0001t0009g0146 a0001c0001t0013g0079 a0001c0001t0013g0133 a0001c0001t0013g0163 a0001c0001t0017g0197 a0001c0001t0019g0092 a0001c0001t0021g0101 a0001c0001t0021g0215 a0001c0001t0024g0035 a0001c0001t0027g0097 a0001c0001t0028g0143 a0001c0001t0031g0136 a0001c0001t0036g0174 a0001c0001t0041g0070 a0001c0001t0046g0213 a0001c0001t0049g0085 a0001c0001t0056g0167 a0001c0004t0030g0176 a0002c0002t0002g0150 a0007c0009t0007g0068	46	222	0.2072	15	c.-10 others(32): Show c.-10+6468_-10+6469insGTAAAATTTAAATTC	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	3/17			chr3	TogoVar
BCAR1_chr16_75223181_75256624	75245964	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0091 a0001c0008t0004g0091	1	392	0.0026	15	c.13- others(30): Show c.13-2889_13-2875dupAAAAAAAAAAAAAAA	BCAR1	ENSG00000050820.17	transcript	ENST00000162330.10	protein_coding	1/6			chr16	TogoVar
BCAR3_chr1_93556741_93686837	93573609	T T	TTTTTTAT others(8): Show TTTTTTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0155 a0002c0006t0001g0155	1	202	0.0050	15	c.180 others(34): Show c.1803-1769_1803-1768insTAATAATAATAAAAA	BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding	8/11			chr1	TogoVar
BCAR3_chr1_93556741_93686837	93593728	A A	AAACAACA others(8): Show AAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18522.hp1 NA21309.hp1 HG03225.hp1 NA18522.hp1 NA21309.hp1	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0001 a0005c0010 a0009c0015 a0001c0001 a0005c0010 a0009c0015	a0001c0001t0001 a0005c0010t0001 a0009c0015t0001 a0001c0001t0001 a0005c0010t0001 a0009c0015t0001	a0001c0001t0001g0012 a0005c0010t0001g0110 a0009c0015t0001g0086 a0001c0001t0001g0012 a0005c0010t0001g0110 a0009c0015t0001g0086	3	202	0.0149	15	c.358 others(32): Show c.358-1350_358-1336dupGTTGTTGTTGTTGTT	BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding	3/11			chr1	TogoVar
BCAS1_chr20_53938541_54075594	53941411	T T	TGTGTGTG others(8): Show TGTGTGTGGCGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0217 a0002c0002t0001g0217	1	364	0.0028	15	c.35 others(26): Show c.3510_*3511insGCGCGCGCCACACAC	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding		2129		chr20	TogoVar
BCAS1_chr20_53938541_54075594	54005303	A A	AAAAACAA others(8): Show AAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02129.hp1 HG02129.hp2 others(11): Show HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02523.hp2 NA18943.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp1 NA18994.hp1 NA19011.hp2 NA19082.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0018	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0018c0020	a0001c0001t0007 a0001c0001t0015 a0002c0002t0006 others(3): Show a0001c0001t0007 a0001c0001t0015 a0002c0002t0006 a0003c0003t0005 a0003c0003t0014 a0018c0020t0005	a0001c0001t0007g0015 a0001c0001t0007g0020 a0001c0001t0007g0028 others(11): Show a0001c0001t0007g0015 a0001c0001t0007g0020 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0015g0326 a0001c0001t0015g0356 a0002c0002t0006g0269 a0003c0003t0005g0033 a0003c0003t0005g0039 a0003c0003t0005g0056 a0003c0003t0005g0057 a0003c0003t0014g0312 a0018c0020t0005g0062	14	364	0.0385	15	c.724 others(32): Show c.724-9268_724-9254dupGTTTTGTTTTGTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	54041908	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0290 a0002c0002t0003g0290	1	364	0.0028	15	c.143 others(34): Show c.143-12937_143-12936insTTTTTTTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	3/12			chr20	TogoVar
BCAS2_chr1_114562557_114586615	114576431	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	414	0.0024	15	c.257 others(30): Show c.257+242_257+256dupTAATAATAATAATAA	BCAS2	ENSG00000116752.6	transcript	ENST00000369541.4	protein_coding	3/6			chr1	TogoVar
BCAS3_chr17_60672851_61397831	60955386	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02897.hp1 HG02970.hp2 others(4): Show HG02615.hp2 HG02897.hp1 HG02970.hp2 HG03209.hp2 HG03471.hp2 NA18906.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0008 a0002c0005 a0001c0002 a0001c0008 a0002c0005	a0001c0002t0001 a0001c0002t0002 a0001c0008t0002 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0008t0002 a0002c0005t0001	a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0071 others(4): Show a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0008t0002g0062 a0002c0005t0001g0051	7	74	0.0946	15	c.122 others(34): Show c.1221+8039_1221+8053dupTTTTTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60967949	T T	TTTGTTGT others(8): Show TTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA21309.hp1 HG03098.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0061 a0001c0002t0002g0069 a0001c0002t0001g0061 a0001c0002t0002g0069	2	74	0.0270	15	c.122 others(36): Show c.1221+20612_1221+20626dupGTTGTTGTTGTTGTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61042891	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	74	0.0135	15	c.202 others(34): Show c.2029+2009_2029+2023dupAAAAAAAAAAAAAAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61045823	T T	TCTCTCTC others(8): Show TCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0015 a0002c0003t0001g0015	1	74	0.0135	15	c.202 others(34): Show c.2029+4931_2029+4932insCTCTCTCTCTCTCTC	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23			chr17	TogoVar
BCAS3_chr17_60672851_61397831	61089509	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	74	0.0135	15	c.242 others(34): Show c.2425+4969_2425+4983dupTTTTTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61192246	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01256.hp1 HG01256.hp2 others(4): Show HG00639.hp2 HG01256.hp1 HG01256.hp2 HG03098.hp2 NA18951.hp1 NA19043.hp1 NA20300.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0003 a0003c0001t0001g0005 a0003c0001t0001g0006 others(4): Show a0003c0001t0001g0003 a0003c0001t0001g0005 a0003c0001t0001g0006 a0003c0001t0001g0010 a0003c0001t0001g0012 a0003c0001t0001g0026 a0003c0001t0001g0031	7	74	0.0946	15	c.242 others(38): Show c.2425+107684_2425+107698dupAAAAAAAAAAAAAAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61216516	G G	GTTTATTT others(8): Show GTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03225.hp2 NA19030.hp2 HG02965.hp1 HG03225.hp2 NA19030.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0009 a0002c0003 a0004c0009	a0002c0003t0001 a0004c0009t0001 a0002c0003t0001 a0004c0009t0001	a0002c0003t0001g0015 a0002c0003t0001g0052 a0004c0009t0001g0055 a0002c0003t0001g0015 a0002c0003t0001g0052 a0004c0009t0001g0055	3	74	0.0405	15	c.242 others(38): Show c.2425+131975_2425+131989dupTATTTTATTTTATTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61271424	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp2 NA20300.hp1 HG01891.hp1 HG02615.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 a0001c0002t0001 a0001c0004t0001 a0001c0004t0002	a0001c0002t0001g0071 a0001c0004t0001g0047 a0001c0004t0002g0044 a0001c0002t0001g0071 a0001c0004t0001g0047 a0001c0004t0002g0044	3	74	0.0405	15	c.242 others(36): Show c.2426-96890_2426-96889insTTTTTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAT1_chr12_24805024_24954101	24836887	A A	AAGAAAGA others(8): Show AAGAAAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0240	1	322	0.0031	15	c.818 others(30): Show c.818-292_818-291insCTTTCTTTTCTTTCT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	7/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24844894	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01256.hp2 HG02145.hp2 others(5): Show HG01175.hp1 HG01256.hp2 HG02145.hp2 HG02647.hp1 HG03041.hp2 HG03209.hp1 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 a0001c0001t0068 a0001c0001t0094	a0001c0001t0001g0037 a0001c0001t0002g0233 a0001c0001t0002g0265 others(5): Show a0001c0001t0001g0037 a0001c0001t0002g0233 a0001c0001t0002g0265 a0001c0001t0011g0030 a0001c0001t0013g0261 a0001c0001t0013g0262 a0001c0001t0068g0032 a0001c0001t0094g0266	8	322	0.0248	15	c.675 others(32): Show c.675-2685_675-2671dupTTTTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	6/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887061	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02630.hp2 HG02970.hp2 HG02145.hp1 HG02630.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0037 a0001c0001t0021 a0001c0001t0037	a0001c0001t0021g0105 a0001c0001t0021g0193 a0001c0001t0037g0107 a0001c0001t0021g0105 a0001c0001t0021g0193 a0001c0001t0037g0107	3	322	0.0093	15	c.280 others(32): Show c.280-5665_280-5651dupTTTTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03239.hp1 NA18947.hp2 others(2): Show HG02615.hp2 HG03239.hp1 NA18947.hp2 NA18973.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0036 others(2): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0036 a0001c0001t0039 a0001c0001t0097	a0001c0001t0001g0060 a0001c0001t0014g0164 a0001c0001t0036g0081 others(2): Show a0001c0001t0001g0060 a0001c0001t0014g0164 a0001c0001t0036g0081 a0001c0001t0039g0151 a0001c0001t0097g0073	5	322	0.0155	15	c.280 others(32): Show c.280-5670_280-5669insATATTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAA others(8): Show AAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG04115.hp1 others(1): Show HG01515.hp1 HG01517.hp2 HG04115.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0095 a0001c0001t0096 a0001c0001t0018 a0001c0001t0095 a0001c0001t0096	a0001c0001t0018g0116 a0001c0001t0018g0117 a0001c0001t0095g0223 others(1): Show a0001c0001t0018g0116 a0001c0001t0018g0117 a0001c0001t0095g0223 a0001c0001t0096g0124	4	322	0.0124	15	c.280 others(32): Show c.280-5670_280-5669insATATATTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0127 a0005c0006t0127	a0005c0006t0127g0173 a0005c0006t0127g0173	1	322	0.0031	15	c.280 others(32): Show c.280-5670_280-5669insATATATATTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0212	1	322	0.0031	15	c.280 others(32): Show c.280-5670_280-5669insATATATATATATATA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24892059	T T	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01081.hp2 HG02071.hp2 others(29): Show HG00621.hp1 HG01081.hp2 HG02071.hp2 HG02129.hp2 HG02155.hp1 HG04115.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18952.hp1 NA18956.hp1 NA18959.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18977.hp2 NA18980.hp2 NA18990.hp1 NA18992.hp1 NA18995.hp2 NA19000.hp1 NA19012.hp2 NA19057.hp1 NA19063.hp1 NA19066.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0001t0075 a0001c0001t0079 a0001c0001t0095 a0001c0001t0096 a0001c0001t0125 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135	a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0001g0130 others(29): Show a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0001g0130 a0001c0001t0001g0165 a0001c0001t0001g0248 a0001c0001t0004g0119 a0001c0001t0004g0127 a0001c0001t0004g0132 a0001c0001t0004g0137 a0001c0001t0004g0219 a0001c0001t0014g0163 a0001c0001t0014g0164 a0001c0001t0022g0111 a0001c0001t0022g0245 a0001c0001t0023g0120 a0001c0001t0029g0304 a0001c0001t0029g0318 a0001c0001t0029g0319 a0001c0001t0036g0081 a0001c0001t0036g0123 a0001c0001t0039g0066 a0001c0001t0039g0151 a0001c0001t0040g0250 a0001c0001t0040g0251 a0001c0001t0075g0143 a0001c0001t0079g0122 a0001c0001t0095g0223 a0001c0001t0096g0124 a0001c0001t0125g0221 a0001c0001t0133g0305 a0001c0001t0134g0306 a0001c0001t0135g0298	32	322	0.0994	15	c.279 others(32): Show c.279+2201_279+2215dupCAAAACAAAACAAAA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24951590	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01192.hp2 others(9): Show HG00642.hp2 HG00735.hp1 HG01192.hp2 HG01891.hp1 HG03579.hp1 HG04184.hp2 HG04204.hp2 NA18943.hp2 NA18969.hp1 NA18972.hp1 NA18974.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0014 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0030 a0001c0001t0036 a0001c0001t0066 a0001c0001t0111	a0001c0001t0001g0121 a0001c0001t0002g0004 a0001c0001t0004g0118 others(9): Show a0001c0001t0001g0121 a0001c0001t0002g0004 a0001c0001t0004g0118 a0001c0001t0012g0108 a0001c0001t0014g0084 a0001c0001t0022g0111 a0001c0001t0023g0126 a0001c0001t0027g0196 a0001c0001t0030g0085 a0001c0001t0036g0123 a0001c0001t0066g0086 a0001c0001t0111g0146	12	322	0.0373	15	c.-26 others(26): Show c.-2659_-2658insTTTTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding		2490		chr12	TogoVar
BCAT2_chr19_48790064_48816029	48811494	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 NA18991.hp2 NA19086.hp2 HG02293.hp2 NA18991.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0214 a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0214	3	408	0.0074	15	c.-48 others(24): Show c.-488_-487insTTTTTTTTTTTTTTT	BCAT2	ENSG00000105552.15	transcript	ENST00000316273.11	protein_coding		466		chr19	TogoVar
BCCIP_chr10_125818546_125841551	125826996	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	446	0.0022	15	c.240 others(30): Show c.240+340_240+341insAAAAAAAAAAAAAAA	BCCIP	ENSG00000107949.17	transcript	ENST00000278100.11	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
BCHE_chr3_165767904_165842423	165791948	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00639.hp1 others(35): Show HG00099.hp2 HG00423.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG01175.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01934.hp1 HG01943.hp2 HG02015.hp1 HG02055.hp1 HG02074.hp1 HG02129.hp2 HG02155.hp1 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02647.hp1 HG02717.hp1 HG02818.hp1 HG03041.hp2 HG03486.hp2 NA18747.hp2 NA18952.hp1 NA18957.hp1 NA18960.hp1 NA18973.hp2 NA18982.hp2 NA18989.hp1 NA18991.hp1 NA18999.hp2 NA19064.hp1 NA19081.hp1 NA19083.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0008 a0001c0001t0001 a0001c0001t0002 a0002c0002t0008	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0025 others(29): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0122 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0118 a0002c0002t0008g0120	38	304	0.1250	15	c.151 others(34): Show c.1518-5652_1518-5638dupATTTTATTTTATTTT	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BCHE_chr3_165767904_165842423	165791988	T T	TAAAATAA others(8): Show TAAAATAAAATAAAAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp2 HG01361.hp2 others(4): Show HG00140.hp2 HG01106.hp2 HG01361.hp2 HG02280.hp2 HG02723.hp1 HG03041.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 others(4): Show a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0248	7	304	0.0230	15	c.151 others(34): Show c.1518-5678_1518-5677insGTTTTATTTTATTTT	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BCHE_chr3_165767904_165842423	165840294	A A	AGATAGAT others(8): Show AGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0033 a0002c0002t0004g0033	1	304	0.0033	15	c.-29 others(26): Show c.-2990_-2989insATCTATCTATCTATC	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding		2872		chr3	TogoVar
BCKDHB_chr6_80101671_80351270	80342556	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0096 a0001c0001t0009g0096	1	294	0.0034	15	c.103 others(34): Show c.1039-1099_1039-1085dupAAAAAAAAAAAAAAA	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCL11A_chr2_60452194_60558654	60467138	T T	TTGGTGGT others(8): Show TTGGTGGTGATGGTGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp2 HG02145.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0063 a0001c0001t0038 a0001c0001t0063	a0001c0001t0038g0069 a0001c0001t0063g0234 a0001c0001t0038g0069 a0001c0001t0063g0234	2	262	0.0076	15	c.487 others(32): Show c.487+1579_487+1593dupCCACCATCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467654	A A	ATGGTGAT others(8): Show ATGGTGATGGTACTGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00738.hp2 others(44): Show HG00544.hp1 HG00597.hp2 HG00738.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01358.hp1 HG01496.hp1 HG02004.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02293.hp2 HG02300.hp2 HG02630.hp1 HG02683.hp1 HG03017.hp1 HG03041.hp1 HG03195.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp1 NA18957.hp1 NA18962.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp2 NA18983.hp1 NA18992.hp2 NA18994.hp1 NA19004.hp1 NA19066.hp1 NA19068.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0022 a0001c0001t0023 a0001c0001t0034 a0001c0001t0047 a0001c0001t0050 a0001c0001t0068 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0017 a0001c0002t0028 a0001c0007t0002	a0001c0001t0001g0021 a0001c0001t0001g0043 a0001c0001t0001g0045 others(44): Show a0001c0001t0001g0021 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0063 a0001c0001t0002g0091 a0001c0001t0002g0106 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0124 a0001c0001t0002g0127 a0001c0001t0002g0140 a0001c0001t0003g0153 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0177 a0001c0001t0003g0182 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0005g0224 a0001c0001t0005g0225 a0001c0001t0005g0226 a0001c0001t0005g0228 a0001c0001t0005g0230 a0001c0001t0006g0240 a0001c0001t0006g0243 a0001c0001t0006g0244 a0001c0001t0008g0132 a0001c0001t0009g0201 a0001c0001t0012g0215 a0001c0001t0013g0248 a0001c0001t0013g0249 a0001c0001t0015g0162 a0001c0001t0022g0179 a0001c0001t0023g0203 a0001c0001t0034g0066 a0001c0001t0047g0176 a0001c0001t0050g0161 a0001c0001t0068g0260 a0001c0002t0001g0016 a0001c0002t0002g0120 a0001c0002t0003g0167 a0001c0002t0004g0077 a0001c0002t0017g0010 a0001c0002t0028g0044 a0001c0007t0002g0096	47	262	0.1794	15	c.487 others(32): Show c.487+1063_487+1077dupCCAGTACCATCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467786	A A	ATGGTGAT others(8): Show ATGGTGATGGTACTGG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0170	1	262	0.0038	15	c.487 others(30): Show c.487+931_487+945dupCCAGTACCATCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60507316	G G	GGGGAAGG others(8): Show GGGGAAGGGAAGGGAA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	262	0.0038	15	c.386 others(34): Show c.386-38498_386-38484dupTTCCCTTCCCTTCCC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCL2L10_chr15_52104263_52117775	52111173	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18964.hp1 HG04228.hp2 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0137 a0002c0002t0001g0122 a0001c0001t0001g0137 a0002c0002t0001g0122	2	458	0.0044	15	c.489 others(32): Show c.489+1064_489+1065insGTGTGTGTGTGTGTG	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding	1/1			chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(8): Show ATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 NA18906.hp2 HG01496.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0009 a0002c0002t0005 a0002c0002t0009	a0002c0002t0005g0113 a0002c0002t0009g0116 a0002c0002t0005g0113 a0002c0002t0009g0116	2	458	0.0044	15	c.-43 others(26): Show c.-4377_-4376insAAAAAAATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L11_chr2_111115914_111173444	111120979	T T	TGCCGCTG others(8): Show TGCCGCTGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0206 a0001c0001t0055g0206	1	398	0.0025	15	c.-21 others(24): Show c.-218_-217insTGCCGCCGCCGCCGC	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding	1/4	2761	INFO_REALIGN_3_PRIME	chr2	TogoVar
BCL2L11_chr2_111115914_111173444	111170699	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01074.hp1 HG01168.hp2 others(2): Show HG00140.hp2 HG01074.hp1 HG01168.hp2 HG01169.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0026 a0001c0001t0057 others(1): Show a0001c0001t0002 a0001c0001t0026 a0001c0001t0057 a0001c0001t0062	a0001c0001t0002g0296 a0001c0001t0026g0229 a0001c0001t0026g0231 others(2): Show a0001c0001t0002g0296 a0001c0001t0026g0229 a0001c0001t0026g0231 a0001c0001t0057g0236 a0001c0001t0062g0238	5	398	0.0126	15	c.64 others(26): Show c.6468_*6469insAAAAAAAAAAAAAAA	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding		2256		chr2	TogoVar
BCL2L13_chr22_17633757_17735855	17711304	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp1 HG01109.hp2 others(11): Show HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01884.hp2 HG02055.hp2 HG02148.hp2 HG02280.hp2 HG02300.hp2 HG02886.hp1 HG03225.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 NA20752.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0004 a0003c0005 others(1): Show a0001c0002 a0003c0004 a0003c0005 a0004c0006	a0001c0002t0006 a0001c0002t0012 a0003c0004t0015 others(6): Show a0001c0002t0006 a0001c0002t0012 a0003c0004t0015 a0003c0004t0016 a0003c0004t0031 a0003c0005t0006 a0004c0006t0001 a0004c0006t0049 a0004c0006t0063	a0001c0002t0006g0079 a0001c0002t0012g0305 a0003c0004t0015g0080 others(11): Show a0001c0002t0006g0079 a0001c0002t0012g0305 a0003c0004t0015g0080 a0003c0004t0015g0081 a0003c0004t0015g0253 a0003c0004t0016g0088 a0003c0004t0031g0254 a0003c0005t0006g0084 a0003c0005t0006g0085 a0003c0005t0006g0086 a0004c0006t0001g0090 a0004c0006t0001g0092 a0004c0006t0049g0091 a0004c0006t0063g0093	14	306	0.0458	15	c.600 others(32): Show c.600+8929_600+8930insTTTTTTTTTTTTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715170	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0059 a0002c0003t0059	a0002c0003t0059g0273 a0002c0003t0059g0273	1	306	0.0033	15	c.601 others(34): Show c.601-11506_601-11505insATATATATATATATT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715170	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0263 a0006c0010t0001g0263	1	306	0.0033	15	c.601 others(34): Show c.601-11506_601-11505insATATATATATATTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17717380	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0243 a0001c0001t0024g0244 a0001c0001t0024g0243 a0001c0001t0024g0244	2	306	0.0065	15	c.601 others(32): Show c.601-9291_601-9290insAAAAAAAAAAAAAAA	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar

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