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
BARHL2_chr1_90706539_90722302	90719504	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 NA18992.hp2 NA19090.hp1 HG02055.hp1 NA18992.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0021 a0001c0001t0002g0057 a0001c0001t0002g0005 a0001c0001t0002g0021 a0001c0001t0002g0057	3	446	0.0067	20	c.-23 others(31): Show c.-2310_-2309insTTTTTTTTTTTTTTTTTTTT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		2203		chr1	TogoVar
BASP1_chr5_17212631_17281834	17217071	T T	TGTGAGAG others(13): Show TGTGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02273.hp2 HG02165.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0028 a0001c0001t0011 a0001c0001t0028	a0001c0001t0011g0316 a0001c0001t0028g0345 a0001c0001t0011g0316 a0001c0001t0028g0345	2	370	0.0054	20	c.-74 others(29): Show c.-749_-748insGTGAGAGAGAGAGAGAGAGA	BASP1	ENSG00000176788.9	transcript	ENST00000322611.4	protein_coding		559		chr5	TogoVar
BATF2_chr11_64982945_65001971	65000934	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG03098.hp2 NA18522.hp1 HG02818.hp2 HG03098.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0082 a0001c0001t0001g0012 a0001c0001t0001g0082	3	404	0.0074	20	c.-40 others(31): Show c.-4021_-4020insAAGAAAGAAAGAAAGAAAGA	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		3964		chr11	TogoVar
BATF3_chr1_212681417_212704840	212681420	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(27): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG01069.hp1 HG01070.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG03834.hp1 HG03927.hp1 NA18942.hp2 NA18955.hp1 NA18963.hp1 NA18966.hp2 NA18967.hp2 NA18972.hp2 NA18981.hp1 NA18988.hp2 NA18989.hp1 NA19007.hp1 NA19012.hp1 NA19055.hp1 NA19059.hp1 NA19086.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0050 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0178 a0001c0001t0003g0016 a0002c0002t0001g0260 a0002c0002t0001g0284	30	462	0.0649	20	c.53 others(31): Show c.5370_*5371insAAAAAAAAAAAAAAAAAAAA	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding		4996		chr1	TogoVar
BATF3_chr1_212681417_212704840	212687967	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00438.hp1 others(37): Show HG00099.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00741.hp1 HG01081.hp2 HG01168.hp2 HG01175.hp1 HG01496.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02257.hp2 HG02280.hp2 HG02523.hp1 HG02615.hp1 HG02630.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03669.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 NA18948.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18977.hp2 NA18995.hp1 NA19001.hp1 NA19001.hp2 NA19009.hp1 NA19011.hp1 NA19065.hp2 NA19068.hp2 NA19077.hp1 NA19085.hp1 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0008 a0001c0001 a0002c0002 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0004c0008t0001	a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0049 others(28): Show a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0156 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0214 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0236 a0001c0001t0002g0078 a0002c0002t0001g0032 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0246 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0271 a0002c0002t0001g0278 a0002c0002t0001g0289 a0002c0002t0001g0294 a0002c0002t0001g0297 a0004c0008t0001g0242	40	462	0.0866	20	c.196 others(36): Show c.196-1008_196-989dupCTTTCTTTCTTTCTTTCTTT	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding	2/2			chr1	TogoVar
BATF3_chr1_212681417_212704840	212687996	A A	AAAGAAAG others(13): Show AAAGAAAGAAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	462	0.0022	20	c.196 others(37): Show c.196-1018_196-1017insCCTTCCTTTCTTTCTTTCTT	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding	2/2			chr1	TogoVar
BATF_chr14_75517469_75551992	75536722	T T	TTAAAATA others(13): Show TTAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00609.hp1 others(44): Show HG00280.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01884.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp2 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02622.hp1 HG02622.hp2 HG02809.hp2 HG02897.hp1 HG02976.hp2 HG03195.hp1 HG03710.hp1 NA18522.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18952.hp1 NA18952.hp2 NA18963.hp2 NA18972.hp2 NA18992.hp2 NA19001.hp2 NA19043.hp1 NA19063.hp2 NA19068.hp1 NA19079.hp2 NA19088.hp2 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0024 others(36): Show a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0068 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0109 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0259 a0001c0001t0001g0267 a0001c0001t0001g0280 a0001c0001t0001g0286 a0001c0001t0003g0018 a0001c0002t0001g0012 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0135	47	376	0.1250	20	c.169 others(37): Show c.169-9720_169-9701dupATAAAATAAAATAAAATAAA	BATF	ENSG00000156127.8	transcript	ENST00000286639.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
BATF_chr14_75517469_75551992	75550066	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00735.hp2 others(10): Show HG00099.hp1 HG00642.hp1 HG00735.hp2 HG01257.hp1 HG01258.hp1 HG02148.hp2 HG02155.hp2 HG02486.hp1 HG03209.hp1 HG04184.hp1 NA18941.hp2 NA19085.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0017 others(10): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0139 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0248 a0001c0001t0001g0286	13	376	0.0346	20	c.33 others(31): Show c.3395_*3396insTTTCTTTCTTTCTTTCTTTC	BATF	ENSG00000156127.8	transcript	ENST00000286639.8	protein_coding		3075		chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832207	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp2 HG02572.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0155 a0001c0002t0003g0161 a0001c0002t0003g0155 a0001c0002t0003g0161	2	380	0.0053	20	c.393 others(37): Show c.393-6052_393-6051insATATATATATATATATATAT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832213	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0001 a0001c0002t0003g0001	1	380	0.0026	20	c.393 others(37): Show c.393-6058_393-6057insATATATATATATATATATAT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(13): Show CACACACACACACATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0112 a0001c0002t0002g0112	1	380	0.0026	20	c.393 others(37): Show c.393-6060_393-6059insATATATATGTGTGTGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0194 a0001c0003t0005g0194	1	380	0.0026	20	c.393 others(37): Show c.393-6060_393-6059insATATATATATATATATATAT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832228	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0152 a0001c0002t0003g0152	1	380	0.0026	20	c.393 others(37): Show c.393-6073_393-6072insCATATATATATATATATATA	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34866502	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01123.hp2 HG02109.hp1 others(8): Show HG01106.hp1 HG01123.hp2 HG02109.hp1 HG02738.hp2 NA18949.hp1 NA18957.hp2 NA18968.hp1 NA19010.hp2 NA19079.hp1 NA19084.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0007t0005 a0001c0002t0002 a0001c0007t0005	a0001c0002t0002g0063 a0001c0002t0002g0089 a0001c0002t0002g0090 others(8): Show a0001c0002t0002g0063 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0129 a0001c0002t0002g0133 a0001c0007t0005g0135	11	380	0.0290	20	c.114 others(37): Show c.114-4181_114-4180insCTTTCTTTTTTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	2/26			chr14	TogoVar
BAZ1B_chr7_73435406_73527293	73497065	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0181 a0001c0001t0005g0181	1	200	0.0050	20	c.571 others(37): Show c.571+1431_571+1432insTTTTTTTTTTTTTTTTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	4/19			chr7	TogoVar
BAZ1B_chr7_73435406_73527293	73526868	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0188 a0001c0001t0003g0188	1	200	0.0050	20	c.-49 others(31): Show c.-4936_-4935insATATATATATATATTTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding		4576		chr7	TogoVar
BAZ2B_chr2_159313979_159621548	159423314	T T	TAAACAAA others(13): Show TAAACAAACAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00673.hp2 others(7): Show HG00438.hp1 HG00558.hp2 HG00673.hp2 HG02257.hp2 HG02965.hp1 NA18946.hp1 NA18963.hp1 NA19002.hp1 NA19057.hp2 NA19084.hp1	a0004 a0006 a0016 a0004 a0006 a0016	a0004c0004 a0006c0006 a0016c0026 a0004c0004 a0006c0006 a0016c0026	a0004c0004t0001 a0004c0004t0002 a0006c0006t0001 others(2): Show a0004c0004t0001 a0004c0004t0002 a0006c0006t0001 a0006c0006t0002 a0016c0026t0001	a0004c0004t0001g0013 a0004c0004t0001g0070 a0004c0004t0001g0076 others(7): Show a0004c0004t0001g0013 a0004c0004t0001g0070 a0004c0004t0001g0076 a0004c0004t0001g0109 a0004c0004t0001g0119 a0004c0004t0002g0203 a0006c0006t0001g0007 a0006c0006t0001g0081 a0006c0006t0002g0149 a0016c0026t0001g0075	10	216	0.0463	20	c.246 others(39): Show c.2466+4626_2466+4627insGTTTGTTTGTTTGTTTGTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	13/36			chr2	TogoVar
BBOF1_chr14_74014349_74071092	74047407	C C	CTTTATTT others(13): Show CTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0078 a0003c0003t0001g0078	1	386	0.0026	20	c.648 others(35): Show c.648-503_648-484dupATTTATTTATTTATTTATTT	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOX1_chr11_27035815_27132809	27054234	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02965.hp1 HG03927.hp1 others(2): Show HG01255.hp2 HG02965.hp1 HG03927.hp1 NA18943.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0005t0003 a0001c0001t0001 a0001c0001t0003 a0001c0005t0003	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0003g0253 others(2): Show a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0005t0003g0239	5	318	0.0157	20	c.-38 others(37): Show c.-38-1158_-38-1157insTGTGTGTGTGTGTGTGTGCG	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBOX1_chr11_27035815_27132809	27057063	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01081.hp1 HG02074.hp2 others(13): Show HG00423.hp1 HG01081.hp1 HG02074.hp2 HG02080.hp1 HG02135.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp2 NA18943.hp2 NA18967.hp2 NA18970.hp2 NA18991.hp1 NA19000.hp2 NA19006.hp1 NA19012.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0116 a0001c0001t0001g0211 a0001c0001t0001g0212 others(13): Show a0001c0001t0001g0116 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0283 a0001c0001t0001g0290 a0001c0002t0004g0288 a0001c0002t0004g0289	16	318	0.0503	20	c.220 others(35): Show c.220-138_220-137insAAAAAAAAAAAAAAAAAAAA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8			chr11	TogoVar
BBS12_chr4_122727704_122749939	122733376	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0062 a0003c0003t0003g0062	1	364	0.0028	20	c.-11 others(35): Show c.-11+522_-11+541dupCACACACACACACACACACA	BBS12	ENSG00000181004.10	transcript	ENST00000314218.8	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr4	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02293.hp2 HG03688.hp2 HG02258.hp2 HG02293.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0101 a0001c0001t0001g0207 a0001c0001t0001g0008 a0001c0001t0001g0101 a0001c0001t0001g0207	3	398	0.0075	20	c.44 others(31): Show c.4408_*4409insTTTTTTTTTTTTTTTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CACAAAAA others(13): Show CACAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	398	0.0025	20	c.44 others(31): Show c.4408_*4409insTTTTTTTTTTTTTTTTTTGT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CACACAAA others(13): Show CACACAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 NA18947.hp2 HG02015.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0149 a0001c0001t0001g0004 a0001c0001t0001g0149	2	398	0.0050	20	c.44 others(31): Show c.4408_*4409insTTTTTTTTTTTTTTTTGTGT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CACACACA others(13): Show CACACACAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18982.hp1 NA18971.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0153 a0001c0001t0001g0074 a0001c0001t0001g0153	2	398	0.0050	20	c.44 others(31): Show c.4408_*4409insTTTTTTTTTTTTTTGTGTGT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480366	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	398	0.0025	20	c.43 others(31): Show c.4394_*4395insTTTTTTTTTTTTTTTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4018		chr16	TogoVar
BBS4_chr15_72681207_72743473	72687124	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01978.hp2 HG02109.hp1 others(5): Show HG01517.hp2 HG01978.hp2 HG02109.hp1 HG02145.hp2 HG02148.hp1 HG02258.hp2 HG03486.hp2 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0390 a0001c0001t0001g0391 a0001c0001t0001g0392 others(5): Show a0001c0001t0001g0390 a0001c0001t0001g0391 a0001c0001t0001g0392 a0001c0001t0001g0393 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0002c0002t0001g0339	8	398	0.0201	20	c.24+ others(33): Show c.24+883_24+884insTTTTTTTTTTTTTTTTTTTT	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(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03669.hp2 NA18977.hp2 HG02723.hp1 HG03669.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0001g0142 a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0001g0142	3	398	0.0075	20	c.24+ others(35): Show c.24+2161_24+2180dupTTTTTTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72702802	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp1 HG01496.hp2 others(3): Show HG00140.hp2 HG00733.hp1 HG01496.hp2 NA18947.hp2 NA19005.hp2 NA19087.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0013 a0001c0001 a0010c0013	a0001c0001t0001 a0010c0013t0001 a0001c0001t0001 a0010c0013t0001	a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0099 others(3): Show a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0099 a0001c0001t0001g0125 a0001c0001t0001g0140 a0010c0013t0001g0031	6	398	0.0151	20	c.77- others(35): Show c.77-6894_77-6875dupTTTTTTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS9_chr7_33124564_33611069	33188080	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp1 HG01168.hp1 others(14): Show HG00741.hp2 HG01074.hp1 HG01168.hp1 HG01358.hp1 HG01884.hp2 HG02293.hp1 HG02486.hp1 HG02622.hp1 HG02683.hp2 HG02738.hp2 HG02886.hp1 HG02965.hp1 HG03130.hp2 HG03516.hp2 NA18522.hp1 NA18906.hp2 NA18980.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0001c0025 others(1): Show a0001c0001 a0001c0009 a0001c0025 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0017 a0001c0009t0001 a0001c0025t0003 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0014	a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0254 others(14): Show a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0254 a0001c0001t0003g0010 a0001c0001t0004g0014 a0001c0001t0007g0228 a0001c0001t0017g0226 a0001c0009t0001g0240 a0001c0009t0001g0241 a0001c0025t0003g0030 a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0003g0004 a0002c0002t0003g0023 a0002c0002t0004g0016 a0002c0002t0004g0032 a0002c0002t0014g0029	17	268	0.0634	20	c.442 others(39): Show c.442+10502_442+10521dupTGTGTGTGTGTGTGTGTGTG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33231428	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03834.hp1 HG02602.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0263 a0001c0001t0001g0246 a0001c0001t0001g0263	2	268	0.0075	20	c.443 others(39): Show c.443-25791_443-25790insTTTTTTTTTTTTTTTTTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33536698	T T	TTCCCCCC others(13): Show TTCCCCCCGCCCCCCCGCCTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0034 a0002c0002t0004g0034	1	268	0.0037	20	c.252 others(39): Show c.2521+2522_2521+2523insTCCCCCCGCCCCCCCGCCTC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22			chr7	TogoVar
BBS9_chr7_33124564_33611069	33596359	T T	TTATCTAT others(13): Show TTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19030.hp2 NA19070.hp1 HG02622.hp1 NA19030.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0005 a0001c0001t0017 a0001c0010t0001 a0001c0001t0005 a0001c0001t0017 a0001c0010t0001	a0001c0001t0005g0076 a0001c0001t0017g0226 a0001c0010t0001g0084 a0001c0001t0005g0076 a0001c0001t0017g0226 a0001c0010t0001g0084	3	268	0.0112	20	c.252 others(39): Show c.2522-8490_2522-8471dupCTATCTATCTATCTATCTAT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33596391	C C	CTATCTAT others(13): Show CTATCTATCTATCTATCTATA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03834.hp1 HG03669.hp2 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0263 a0002c0002t0003g0012 a0001c0001t0001g0263 a0002c0002t0003g0012	2	268	0.0075	20	c.252 others(39): Show c.2522-8471_2522-8470insCTATCTATCTATCTATATAT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107778994	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02922.hp2 HG03130.hp1 others(2): Show HG00639.hp1 HG02922.hp2 HG03130.hp1 HG03209.hp2 HG03831.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0003 a0001c0001 a0001c0004 a0003c0003	a0001c0001t0015 a0001c0001t0042 a0001c0001t0043 others(2): Show a0001c0001t0015 a0001c0001t0042 a0001c0001t0043 a0001c0004t0009 a0003c0003t0057	a0001c0001t0015g0038 a0001c0001t0042g0007 a0001c0001t0043g0212 others(2): Show a0001c0001t0015g0038 a0001c0001t0042g0007 a0001c0001t0043g0212 a0001c0004t0009g0116 a0003c0003t0057g0187	5	222	0.0225	20	c.220 others(37): Show c.2203+483_2203+502dupTATATATATATATATATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797337	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01952.hp1 HG01993.hp2 others(4): Show HG01243.hp2 HG01952.hp1 HG01993.hp2 HG02976.hp1 HG03130.hp1 HG03486.hp1 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0049 a0001c0004t0009 a0002c0002t0002 a0003c0011t0009	a0001c0001t0001g0222 a0001c0001t0002g0138 a0001c0001t0009g0088 others(4): Show a0001c0001t0001g0222 a0001c0001t0002g0138 a0001c0001t0009g0088 a0001c0001t0049g0085 a0001c0004t0009g0116 a0002c0002t0002g0008 a0003c0011t0009g0156	7	222	0.0315	20	c.235 others(39): Show c.2354-1178_2354-1159dupTATATATATATATATATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797364	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0212 a0001c0001t0043g0212	1	222	0.0045	20	c.235 others(39): Show c.2354-1159_2354-1158insTATATATATATATATATATG	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17			chr3	TogoVar
BCAN_chr1_156637117_156664528	156643633	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA19000.hp2 NA19070.hp2 HG01074.hp1 NA19000.hp2 NA19070.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0008 a0001c0001 a0002c0003 a0004c0008	a0001c0001t0002 a0002c0003t0001 a0004c0008t0001 a0001c0001t0002 a0002c0003t0001 a0004c0008t0001	a0001c0001t0002g0144 a0002c0003t0001g0143 a0004c0008t0001g0306 a0001c0001t0002g0144 a0002c0003t0001g0143 a0004c0008t0001g0306	3	420	0.0071	20	c.-9+ others(35): Show c.-9+1359_-9+1360insGAGAGAGAGAGAGAGAGAGA	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
BCAP29_chr7_107575246_107625478	107591641	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp1 HG02572.hp2 others(3): Show HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02818.hp2 HG03195.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0007 a0001c0001t0013	a0001c0001t0007g0328 a0001c0001t0007g0329 a0001c0001t0007g0350 others(3): Show a0001c0001t0007g0328 a0001c0001t0007g0329 a0001c0001t0007g0350 a0001c0001t0007g0352 a0001c0001t0007g0353 a0001c0001t0013g0351	6	398	0.0151	20	c.194 others(37): Show c.194-2298_194-2297insACACACACACACACACACAC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107591656	A A	ACACACAC others(13): Show ACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0349 a0001c0001t0002g0349	1	398	0.0025	20	c.194 others(37): Show c.194-2298_194-2297insACACACACACACACACACCC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107612437	A A	ATATATAT others(13): Show ATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG02897.hp1 NA19074.hp1 HG02897.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0177 a0001c0001t0001g0044 a0001c0001t0001g0177	2	398	0.0050	20	c.590 others(35): Show c.590-892_590-891insATATATATATATTTATTTAT	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS1_chr20_53938541_54075594	54005303	A A	AAAAACAA others(13): Show AAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01081.hp1 HG01175.hp2 others(16): Show HG01070.hp2 HG01081.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01361.hp1 HG01884.hp1 HG01891.hp1 HG02027.hp1 HG02723.hp2 HG02738.hp2 HG02970.hp1 HG03225.hp2 HG03688.hp1 NA18962.hp2 NA19068.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0017 a0022 a0031	a0001c0001 a0001c0007 a0002c0002 others(5): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003 a0007c0008 a0017c0024 a0022c0027 a0031c0045	a0001c0001t0004 a0001c0001t0030 a0001c0001t0041 others(14): Show a0001c0001t0004 a0001c0001t0030 a0001c0001t0041 a0001c0007t0015 a0001c0007t0048 a0002c0002t0001 a0002c0002t0002 a0002c0002t0037 a0002c0002t0042 a0002c0002t0055 a0002c0002t0057 a0003c0003t0011 a0003c0003t0024 a0007c0008t0020 a0017c0024t0010 a0022c0027t0020 a0031c0045t0003	a0001c0001t0004g0349 a0001c0001t0030g0247 a0001c0001t0041g0052 others(15): Show a0001c0001t0004g0349 a0001c0001t0030g0247 a0001c0001t0041g0052 a0001c0007t0015g0319 a0001c0007t0048g0299 a0002c0002t0001g0133 a0002c0002t0002g0107 a0002c0002t0037g0004 a0002c0002t0042g0053 a0002c0002t0055g0117 a0002c0002t0057g0091 a0003c0003t0011g0055 a0003c0003t0024g0237 a0007c0008t0020g0183 a0017c0024t0010g0236 a0017c0024t0010g0239 a0022c0027t0020g0227 a0031c0045t0003g0270	19	364	0.0522	20	c.724 others(37): Show c.724-9273_724-9254dupGTTTTGTTTTGTTTTGTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	54041908	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0031 a0031	a0031c0045 a0031c0045	a0031c0045t0003 a0031c0045t0003	a0031c0045t0003g0270 a0031c0045t0003g0270	1	364	0.0028	20	c.143 others(39): Show c.143-12937_143-12936insTTTTTTTTTTTTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	3/12			chr20	TogoVar
BCAS3_chr17_60672851_61397831	60786547	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0049 a0001c0004t0001g0049	1	74	0.0135	20	c.404 others(39): Show c.404-21452_404-21433dupTATATATATATATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60955386	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02965.hp2 HG00639.hp1 HG02965.hp2	a0002 a0003 a0002 a0003	a0002c0006 a0003c0010 a0002c0006 a0003c0010	a0002c0006t0002 a0003c0010t0002 a0002c0006t0002 a0003c0010t0002	a0002c0006t0002g0027 a0003c0010t0002g0023 a0002c0006t0002g0027 a0003c0010t0002g0023	2	74	0.0270	20	c.122 others(39): Show c.1221+8053_1221+8054insTTTTTTTTTTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61044465	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02965.hp2 HG03098.hp1 HG00639.hp1 HG02965.hp2 HG03098.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0006 a0003c0010 a0001c0002 a0002c0006 a0003c0010	a0001c0002t0001 a0002c0006t0002 a0003c0010t0002 a0001c0002t0001 a0002c0006t0002 a0003c0010t0002	a0001c0002t0001g0061 a0002c0006t0002g0027 a0003c0010t0002g0023 a0001c0002t0001g0061 a0002c0006t0002g0027 a0003c0010t0002g0023	3	74	0.0405	20	c.202 others(39): Show c.2029+3574_2029+3575insAAAAAAAAAATATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61045823	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG03209.hp1 NA19043.hp2 HG01952.hp1 HG03209.hp1 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0003 a0003c0001 a0001c0004 a0002c0003 a0003c0001	a0001c0004t0002 a0002c0003t0001 a0003c0001t0002 a0001c0004t0002 a0002c0003t0001 a0003c0001t0002	a0001c0004t0002g0035 a0002c0003t0001g0037 a0003c0001t0002g0032 a0001c0004t0002g0035 a0002c0003t0001g0037 a0003c0001t0002g0032	3	74	0.0405	20	c.202 others(39): Show c.2029+4939_2029+4958dupCTCTCTCTCTCTCTCTCTCT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61045849	C C	CTCTATAT others(13): Show CTCTATATATATAAATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0014 a0002c0005t0001g0014	1	74	0.0135	20	c.202 others(39): Show c.2029+4958_2029+4959insCTATATATATAAATATATAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61045849	C C	CTCTCTAT others(13): Show CTCTCTATATATAAATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA20129.hp1 HG03225.hp2 NA20129.hp1	a0002 a0004 a0002 a0004	a0002c0006 a0004c0009 a0002c0006 a0004c0009	a0002c0006t0002 a0004c0009t0001 a0002c0006t0002 a0004c0009t0001	a0002c0006t0002g0030 a0004c0009t0001g0055 a0002c0006t0002g0030 a0004c0009t0001g0055	2	74	0.0270	20	c.202 others(39): Show c.2029+4958_2029+4959insCTCTATATATAAATATATAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61045852	T T	TATATATA others(13): Show TATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02886.hp2 HG03041.hp1 others(1): Show HG01952.hp2 HG02886.hp2 HG03041.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002	a0001c0002t0002g0053 a0001c0002t0002g0057 a0001c0004t0001g0045 others(1): Show a0001c0002t0002g0053 a0001c0002t0002g0057 a0001c0004t0001g0045 a0001c0004t0002g0044	4	74	0.0541	20	c.202 others(39): Show c.2029+4969_2029+4970insAATATATATAAATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar

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