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(9): Show GAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01167.hp2 HG02004.hp1 others(3): Show HG00140.hp1 HG01167.hp2 HG02004.hp1 HG02015.hp2 HG02273.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0002g0013 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0017	6	446	0.0135	16	c.-23 others(27): Show c.-2310_-2309insTTTTTTTTTTTTTTTT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		2203		chr1	TogoVar
BARX1_chr9_93946627_93960355	93950450	A A	ACCCCCCC others(9): Show ACCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	408	0.0025	16	c.17 others(27): Show c.1713_*1714insGGGGGGGGGGGGGGGG	BARX1	ENSG00000131668.14	transcript	ENST00000253968.11	protein_coding		1176		chr9	TogoVar
BASP1_chr5_17212631_17281834	17212996	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02809.hp2 HG02280.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0017 a0001c0001t0010 a0001c0001t0017	a0001c0001t0010g0209 a0001c0001t0017g0011 a0001c0001t0010g0209 a0001c0001t0017g0011	2	370	0.0054	16	c.-48 others(27): Show c.-4824_-4823insAAAAAAAAAAAAAAAA	BASP1	ENSG00000176788.9	transcript	ENST00000322611.4	protein_coding		4634		chr5	TogoVar
BASP1_chr5_17212631_17281834	17217071	T T	TGTGAGAG others(9): Show TGTGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 NA20300.hp1 HG02451.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0027 a0001c0001t0005 a0001c0001t0027	a0001c0001t0005g0333 a0001c0001t0027g0312 a0001c0001t0005g0333 a0001c0001t0027g0312	2	370	0.0054	16	c.-74 others(25): Show c.-749_-748insGTGAGAGAGAGAGAGA	BASP1	ENSG00000176788.9	transcript	ENST00000322611.4	protein_coding		559		chr5	TogoVar
BATF2_chr11_64982945_65001971	65000934	C C	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02615.hp1 NA20805.hp2 HG02015.hp1 HG02615.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0008g0035 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0008g0035	3	404	0.0074	16	c.-40 others(27): Show c.-4021_-4020insAAGAAAGAAAGAAAGA	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		3964		chr11	TogoVar
BATF3_chr1_212681417_212704840	212681420	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01258.hp1 HG02523.hp1 others(18): Show HG00408.hp1 HG01258.hp1 HG02523.hp1 HG02615.hp1 HG03239.hp2 HG03654.hp1 HG03669.hp1 HG03834.hp2 HG06807.hp1 NA18959.hp1 NA18970.hp1 NA18970.hp2 NA18978.hp1 NA18978.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp2 NA18992.hp2 NA19000.hp2 NA19064.hp1 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0001c0001t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0081 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0158 a0001c0001t0001g0177 a0001c0001t0001g0206 a0001c0001t0005g0136 a0002c0002t0001g0259 a0002c0002t0001g0275	21	462	0.0455	16	c.53 others(27): Show c.5370_*5371insAAAAAAAAAAAAAAAA	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding		4996		chr1	TogoVar
BATF3_chr1_212681417_212704840	212687967	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00558.hp2 others(50): Show HG00140.hp1 HG00140.hp2 HG00558.hp2 HG01123.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp2 HG01358.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG02071.hp1 HG02109.hp2 HG02148.hp1 HG02155.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02698.hp1 HG02895.hp2 HG02976.hp1 HG03195.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG06807.hp2 NA18906.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18957.hp1 NA18968.hp2 NA18969.hp2 NA18980.hp1 NA18986.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19059.hp1 NA19075.hp1 NA19076.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 a0002c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0023 others(32): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0102 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0001g0226 a0001c0001t0001g0235 a0001c0005t0001g0233 a0001c0006t0001g0118 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0261 a0002c0002t0001g0269 a0002c0002t0001g0272 a0002c0002t0001g0282 a0002c0002t0001g0285 a0002c0002t0001g0287 a0002c0002t0001g0291 a0002c0002t0001g0293 a0002c0002t0001g0296	53	462	0.1147	16	c.196 others(32): Show c.196-1004_196-989dupCTTTCTTTCTTTCTTT	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding	2/2			chr1	TogoVar
BATF3_chr1_212681417_212704840	212687996	A A	AAAGAAAG others(9): Show AAAGAAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	462	0.0022	16	c.196 others(33): Show c.196-1018_196-1017insCCTTCCTTTCTTTCTT	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding	2/2			chr1	TogoVar
BATF_chr14_75517469_75551992	75539424	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	376	0.0027	16	c.169 others(33): Show c.169-7026_169-7011dupTTTTTTTTTTTTTTTT	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(9): Show TTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00673.hp1 others(25): Show HG00280.hp1 HG00438.hp2 HG00673.hp1 HG00673.hp2 HG01081.hp1 HG02080.hp1 HG02145.hp2 HG02602.hp1 HG03239.hp2 HG03540.hp1 HG04115.hp2 NA18946.hp2 NA18957.hp2 NA18967.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp2 NA18993.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19070.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(23): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0220 a0001c0001t0001g0230 a0001c0001t0001g0271 a0001c0001t0004g0258	28	376	0.0745	16	c.33 others(27): Show c.3395_*3396insTTTCTTTCTTTCTTTC	BATF	ENSG00000156127.8	transcript	ENST00000286639.8	protein_coding		3075		chr14	TogoVar
BATF_chr14_75517469_75551992	75550069	G G	GCTTTCTT others(9): Show GCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	376	0.0027	16	c.33 others(27): Show c.3398_*3399insCTTTCTTTCTTTCTTT	BATF	ENSG00000156127.8	transcript	ENST00000286639.8	protein_coding		3078		chr14	TogoVar
BAX_chr19_48949875_48966798	48954325	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	418	0.0024	16	c.-60 others(25): Show c.-604_-603insAAAAAAAAAAAAAAAA	BAX	ENSG00000087088.21	transcript	ENST00000345358.12	protein_coding		549		chr19	TogoVar
BAZ1A_chr14_34747731_34880360	34759184	T T	TTTTTTTT others(9): Show TTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0367 a0001c0002t0004g0367	1	380	0.0026	16	c.424 others(33): Show c.4244-339_4244-338insCAAAAAAAAAAAAAAA	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	24/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34784367	C C	CCAAAAAA others(9): Show CCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0150 a0001c0004t0004g0150	1	380	0.0026	16	c.183 others(33): Show c.1832-441_1832-440insTTTTTTTTTTTTTTTG	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	14/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34796165	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG01934.hp2 others(27): Show HG00423.hp1 HG00438.hp1 HG01934.hp2 HG02015.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp2 HG02165.hp2 HG02523.hp1 HG02738.hp1 HG03942.hp2 NA18941.hp2 NA18946.hp2 NA18949.hp2 NA18951.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18978.hp1 NA18980.hp2 NA18982.hp2 NA18992.hp2 NA18999.hp1 NA19005.hp1 NA19056.hp2 NA19057.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19088.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0008 a0001c0002 a0005c0008	a0001c0002t0003 a0005c0008t0003 a0001c0002t0003 a0005c0008t0003	a0001c0002t0003g0140 a0001c0002t0003g0142 a0001c0002t0003g0143 others(27): Show a0001c0002t0003g0140 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0177 a0001c0002t0003g0182 a0001c0002t0003g0183 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0190 a0005c0008t0003g0178	30	380	0.0790	16	c.112 others(33): Show c.1129-416_1129-401dupGTGTGTGTGTGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	9/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34796165	T T	TACATACA others(9): Show TACATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0189 a0001c0002t0003g0189	1	380	0.0026	16	c.112 others(33): Show c.1129-401_1129-400insGTGTGTGTGTGTATGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	9/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832199	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0183 a0001c0002t0003g0183	1	380	0.0026	16	c.393 others(33): Show c.393-6044_393-6043insATATATATATATATAT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832205	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0151 a0001c0002t0003g0151	1	380	0.0026	16	c.393 others(33): Show c.393-6050_393-6049insATATATATATATATAT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832207	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0156 a0001c0002t0003g0156	1	380	0.0026	16	c.393 others(33): Show c.393-6052_393-6051insATATATATATATATAT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832209	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18978.hp1 NA18999.hp1 NA18941.hp2 NA18978.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0142 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0142 a0001c0002t0003g0184 a0001c0002t0003g0185	3	380	0.0079	16	c.393 others(33): Show c.393-6054_393-6053insATATATATATATATAT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832211	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03927.hp2 HG01981.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0005 a0001c0002t0003 a0001c0003t0005	a0001c0002t0003g0181 a0001c0003t0005g0373 a0001c0002t0003g0181 a0001c0003t0005g0373	2	380	0.0053	16	c.393 others(33): Show c.393-6056_393-6055insATATATATATATATAT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(9): Show CACACACATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0137 a0001c0002t0008g0137	1	380	0.0026	16	c.393 others(33): Show c.393-6060_393-6059insATATATATATGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34866502	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01257.hp1 others(4): Show HG00099.hp1 HG00639.hp1 HG01257.hp1 HG02615.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0007 a0002c0006t0002 a0002c0006t0007	a0002c0006t0002g0051 a0002c0006t0002g0052 a0002c0006t0002g0053 others(4): Show a0002c0006t0002g0051 a0002c0006t0002g0052 a0002c0006t0002g0053 a0002c0006t0002g0054 a0002c0006t0002g0055 a0002c0006t0002g0057 a0002c0006t0007g0056	7	380	0.0184	16	c.114 others(33): Show c.114-4181_114-4180insCTTTCTTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	2/26			chr14	TogoVar
BAZ1B_chr7_73435406_73527293	73454133	T T	TATAAATA others(9): Show TATAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0198 a0001c0003t0006g0198	1	200	0.0050	16	c.343 others(35): Show c.3433-3155_3433-3140dupTTATTTATTTATTTAT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	13/19			chr7	TogoVar
BAZ1B_chr7_73435406_73527293	73497065	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG02027.hp1 others(8): Show HG00438.hp1 HG00597.hp1 HG02027.hp1 HG02293.hp1 NA18747.hp2 NA18906.hp2 NA18948.hp1 NA18955.hp1 NA19010.hp2 NA19011.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0007 a0001c0005t0002 a0001c0001t0002 a0001c0001t0007 a0001c0005t0002	a0001c0001t0002g0021 a0001c0001t0002g0032 a0001c0001t0002g0034 others(8): Show a0001c0001t0002g0021 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0166 a0001c0001t0007g0176 a0001c0005t0002g0058	11	200	0.0550	16	c.571 others(33): Show c.571+1416_571+1431dupTTTTTTTTTTTTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	4/19			chr7	TogoVar
BAZ1B_chr7_73435406_73527293	73497081	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	200	0.0050	16	c.571 others(33): Show c.571+1415_571+1416insGTTTTTTTTTTTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	4/19			chr7	TogoVar
BAZ1B_chr7_73435406_73527293	73500890	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0199 a0001c0003t0006g0199	1	200	0.0050	16	c.370 others(33): Show c.370-2208_370-2193dupTTTTTTTTTTTTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	3/19			chr7	TogoVar
BAZ2A_chr12_56590596_56635326	56597562	G G	GCACACAC others(9): Show GCACACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0203 a0001c0001t0053g0203	1	316	0.0032	16	c.10 others(27): Show c.1040_*1055dupTGTGTGTGTGTGTGTG	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	1055		chr12	TogoVar
BAZ2A_chr12_56590596_56635326	56597637	G G	GACACACA others(9): Show GACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp1 NA21309.hp1 HG02717.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0105 a0001c0002t0033g0212 a0001c0002t0033g0105 a0001c0002t0033g0212	2	316	0.0063	16	c.96 others(25): Show c.965_*980dupGTGTGTGTGTGTGTGT	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	980		chr12	TogoVar
BAZ2A_chr12_56590596_56635326	56598272	A A	AGGGGAGG others(9): Show AGGGGAGGAGAGGAAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0154 a0001c0001t0040g0154	1	316	0.0032	16	c.33 others(25): Show c.330_*345dupGCTTCCTCTCCTCCCC	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	345		chr12	TogoVar
BAZ2B_chr2_159313979_159621548	159423314	T T	TAAACAAA others(9): Show TAAACAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(54): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01515.hp1 HG01978.hp2 HG02004.hp2 HG02040.hp2 HG02132.hp1 HG02135.hp2 HG02300.hp1 HG02572.hp2 HG02615.hp2 HG02698.hp2 HG02896.hp1 HG03041.hp1 HG03209.hp2 HG03710.hp1 HG03834.hp1 HG04184.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18968.hp2 NA18969.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19055.hp1 NA19057.hp1 NA19064.hp1 NA19066.hp2 NA19070.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0009 a0014 a0020	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0004c0009 a0006c0006 a0006c0016 a0009c0015 a0014c0024 a0020c0014	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(8): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0004c0009t0001 a0006c0006t0002 a0006c0016t0002 a0009c0015t0002 a0014c0024t0001 a0020c0014t0002	a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0022 others(54): Show a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0002g0148 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0160 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0189 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0213 a0002c0002t0002g0151 a0002c0002t0002g0163 a0002c0002t0002g0186 a0003c0003t0001g0031 a0003c0003t0002g0182 a0004c0009t0001g0010 a0004c0009t0001g0099 a0004c0009t0001g0100 a0006c0006t0002g0145 a0006c0016t0002g0146 a0009c0015t0002g0168 a0014c0024t0001g0088 a0020c0014t0002g0181	57	216	0.2639	16	c.246 others(35): Show c.2466+4611_2466+4626dupGTTTGTTTGTTTGTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	13/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159491720	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00609.hp1 others(7): Show HG00099.hp2 HG00544.hp1 HG00609.hp1 HG02717.hp2 HG03540.hp1 HG03654.hp1 HG03834.hp1 NA18941.hp1 NA18979.hp2 NA18983.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0011	a0001c0001 a0001c0029 a0002c0007 others(2): Show a0001c0001 a0001c0029 a0002c0007 a0006c0006 a0011c0031	a0001c0001t0001 a0001c0001t0002 a0001c0029t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0029t0001 a0002c0007t0002 a0006c0006t0002 a0011c0031t0001	a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 others(7): Show a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0002g0144 a0001c0001t0002g0162 a0001c0029t0001g0112 a0002c0007t0002g0135 a0006c0006t0002g0145 a0011c0031t0001g0108	10	216	0.0463	16	c.-2- others(33): Show c.-2-13015_-2-13000dupTTTTTTTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BBOF1_chr14_74014349_74071092	74047407	C C	CTTTATTT others(9): Show CTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0223 a0002c0002t0001g0223	1	386	0.0026	16	c.648 others(31): Show c.648-499_648-484dupATTTATTTATTTATTT	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(9): Show TGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18953.hp1 HG02145.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0003 a0001c0001t0001 a0001c0005t0003	a0001c0001t0001g0081 a0001c0005t0003g0267 a0001c0001t0001g0081 a0001c0005t0003g0267	2	318	0.0063	16	c.-38 others(33): Show c.-38-1158_-38-1157insTGTGTGTGTGTGCGCG	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBOX1_chr11_27035815_27132809	27054234	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00738.hp2 others(13): Show HG00280.hp2 HG00323.hp2 HG00738.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG02572.hp2 HG02886.hp2 HG03704.hp1 HG03704.hp2 NA18946.hp1 NA18956.hp2 NA19007.hp1 NA19012.hp1 NA19060.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0003t0005 a0001c0005t0003	a0001c0001t0001g0072 a0001c0001t0001g0086 a0001c0001t0001g0087 others(12): Show a0001c0001t0001g0072 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0178 a0001c0001t0003g0249 a0001c0001t0003g0262 a0001c0001t0014g0073 a0001c0003t0005g0008 a0001c0005t0003g0263 a0001c0005t0003g0282	16	318	0.0503	16	c.-38 others(33): Show c.-38-1158_-38-1157insTGTGTGTGTGTGTGCG	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(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03041.hp1 NA20300.hp1 HG02970.hp2 HG03041.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0183 a0001c0004t0001g0295 a0001c0004t0001g0296 a0001c0002t0001g0183 a0001c0004t0001g0295 a0001c0004t0001g0296	3	318	0.0094	16	c.220 others(31): Show c.220-138_220-137insAAAAAAAAAAAAAAAA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8			chr11	TogoVar
BBOX1_chr11_27035815_27132809	27057064	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0176 a0001c0001t0009g0176	1	318	0.0031	16	c.220 others(31): Show c.220-131_220-116dupAAAAAAAAAAAAAAAA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	398	0.0025	16	c.44 others(27): Show c.4408_*4409insTTTTTTTTTTTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480354	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18981.hp1 NA19080.hp2 NA18612.hp1 NA18981.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0089 a0001c0001t0001g0100 a0001c0001t0001g0001 a0001c0001t0001g0089 a0001c0001t0001g0100	3	398	0.0075	16	c.44 others(27): Show c.4406_*4407insGTTTTTTTTTTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4030		chr16	TogoVar
BBS4_chr15_72681207_72743473	72687124	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02965.hp1 NA18612.hp2 HG01884.hp2 HG02965.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0154 a0001c0001t0001g0358 a0001c0001t0002g0153 a0001c0001t0001g0154 a0001c0001t0001g0358 a0001c0001t0002g0153	3	398	0.0075	16	c.24+ others(29): Show c.24+883_24+884insTTTTTTTTTTTTTTTT	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(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00735.hp2 others(21): Show HG00408.hp2 HG00558.hp1 HG00735.hp2 HG01517.hp1 HG01943.hp2 HG02004.hp1 HG02132.hp2 HG02135.hp2 HG02273.hp2 HG02647.hp2 HG03491.hp2 HG04199.hp2 NA18612.hp1 NA18942.hp2 NA18955.hp1 NA18962.hp1 NA18969.hp1 NA18979.hp1 NA18980.hp1 NA18986.hp2 NA18992.hp1 NA19054.hp2 NA19055.hp2 NA19068.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0010 a0001c0001 a0002c0002 a0006c0010	a0001c0001t0001 a0002c0002t0001 a0006c0010t0001 a0001c0001t0001 a0002c0002t0001 a0006c0010t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(21): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0147 a0002c0002t0001g0262 a0006c0010t0001g0089	24	398	0.0603	16	c.24+ others(31): Show c.24+2165_24+2180dupTTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72689780	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	398	0.0025	16	c.24+ others(31): Show c.24+3561_24+3576dupATTTATTTATTTATTT	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(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02015.hp2 NA18961.hp2 HG00609.hp2 HG02015.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0104	3	398	0.0075	16	c.77- others(31): Show c.77-6890_77-6875dupTTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS5_chr2_169474494_169511655	169489851	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0171 a0001c0001t0025g0171	1	398	0.0025	16	c.386 others(33): Show c.386+1763_386+1778dupTTTTTTTTTTTTTTTT	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BBS7_chr4_121819329_121875474	121832009	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03453.hp1 HG03540.hp2 HG02280.hp2 HG03453.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0094 a0001c0001t0001g0191 a0001c0001t0011g0210 a0001c0001t0001g0094 a0001c0001t0001g0191 a0001c0001t0011g0210	3	374	0.0080	16	c.167 others(35): Show c.1676+1206_1676+1221dupGTGTGTGTGTGTGTGT	BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding	15/18			chr4	TogoVar
BBS9_chr7_33124564_33611069	33188080	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG00738.hp1 others(21): Show HG00280.hp2 HG00642.hp1 HG00738.hp1 HG01106.hp2 HG01243.hp2 HG01261.hp1 HG01496.hp2 HG01891.hp1 HG02257.hp2 HG02602.hp1 HG02602.hp2 HG02895.hp2 HG03098.hp2 HG03491.hp2 HG03492.hp2 HG03834.hp1 NA18945.hp1 NA18960.hp2 NA18993.hp1 NA19005.hp2 NA19012.hp2 NA19083.hp2 NA19090.hp1 NA20905.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0011c0024 a0001c0001 a0002c0002 a0011c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0011c0024t0011	a0001c0001t0001g0217 a0001c0001t0001g0229 a0001c0001t0001g0234 others(21): Show a0001c0001t0001g0217 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0002g0220 a0001c0001t0002g0247 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0027 a0001c0001t0008g0233 a0001c0001t0009g0211 a0001c0001t0009g0214 a0002c0002t0001g0196 a0002c0002t0001g0224 a0002c0002t0003g0031 a0002c0002t0004g0013 a0011c0024t0011g0024	24	268	0.0896	16	c.442 others(35): Show c.442+10506_442+10521dupTGTGTGTGTGTGTGTG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33328993	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01516.hp1 HG01261.hp2 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0161 a0001c0001t0002g0129 a0001c0001t0001g0161 a0001c0001t0002g0129	2	268	0.0075	16	c.101 others(35): Show c.1017-7428_1017-7413dupATTTATTTATTTATTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33368577	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	268	0.0037	16	c.178 others(33): Show c.1789+740_1789+755dupACACACACACACACAC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33368577	T T	TACACACA others(9): Show TACACACACACACGCAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	268	0.0037	16	c.178 others(33): Show c.1789+727_1789+728insGCACACACACACACAC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33492811	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	268	0.0037	16	c.211 others(37): Show c.2116-12623_2116-12608dupGTGTGTGTGTGTGTGT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr7	TogoVar

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