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
BAZ1A_chr14_34747731_34880360	34836378	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0158 a0001c0001t0010g0158	1	380	0.0026	-12	c.393 others(31): Show c.393-10234_393-10223delTTTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34840764	AAAACAAA others(5): Show AAAACAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00558.hp2 others(65): Show HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01192.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02523.hp1 HG02572.hp2 HG02647.hp2 HG02738.hp1 HG02818.hp2 HG03471.hp1 HG03490.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG06807.hp2 NA18940.hp2 NA18941.hp2 NA18946.hp2 NA18949.hp2 NA18951.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18982.hp2 NA18992.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19088.hp2 NA20300.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0005c0008	a0001c0002t0003 a0001c0003t0005 a0001c0004t0004 others(1): Show a0001c0002t0003 a0001c0003t0005 a0001c0004t0004 a0005c0008t0003	a0001c0002t0003g0001 a0001c0002t0003g0140 a0001c0002t0003g0141 others(65): Show a0001c0002t0003g0001 a0001c0002t0003g0140 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0183 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0003t0005g0049 a0001c0003t0005g0050 a0001c0003t0005g0192 a0001c0003t0005g0193 a0001c0003t0005g0194 a0001c0003t0005g0195 a0001c0003t0005g0368 a0001c0003t0005g0369 a0001c0003t0005g0370 a0001c0003t0005g0371 a0001c0003t0005g0372 a0001c0003t0005g0373 a0001c0003t0005g0374 a0001c0003t0005g0375 a0001c0003t0005g0376 a0001c0003t0005g0377 a0001c0003t0005g0378 a0001c0004t0004g0150 a0005c0008t0003g0178	68	380	0.1790	-12	c.393 others(31): Show c.393-14620_393-14609delGTTTGTTTGTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34844775	GCGCACAC others(5): Show GCGCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00558.hp1 others(83): Show HG00099.hp1 HG00140.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01975.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02132.hp2 HG02486.hp2 HG02615.hp1 HG02683.hp1 HG02723.hp2 HG02738.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18982.hp1 NA18989.hp2 NA18994.hp2 NA19001.hp1 NA19010.hp2 NA19012.hp2 NA19056.hp1 NA19058.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0006 a0001c0002 a0001c0003 a0002c0006	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0003t0005 a0002c0006t0002 a0002c0006t0007	a0001c0002t0001g0102 a0001c0002t0001g0124 a0001c0002t0001g0125 others(83): Show a0001c0002t0001g0102 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0136 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0003g0060 a0001c0002t0008g0137 a0001c0003t0005g0194 a0002c0006t0002g0051 a0002c0006t0002g0052 a0002c0006t0002g0053 a0002c0006t0002g0054 a0002c0006t0002g0055 a0002c0006t0002g0057 a0002c0006t0007g0056	86	380	0.2263	-12	c.392 others(31): Show c.392+17257_392+17268delTGTGTGTGTGCG	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34844777	GCACACAC others(5): Show GCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG01891.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0283 a0001c0001t0011g0285 a0001c0001t0001g0283 a0001c0001t0011g0285	2	380	0.0053	-12	c.392 others(31): Show c.392+17255_392+17266delTGTGTGTGTGTG	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34872913	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0058	1	380	0.0026	-12	c.113 others(29): Show c.113+1567_113+1578delTTTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	2/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34877239	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03579.hp1 HG01891.hp1 HG03579.hp1	a0001 a0006 a0001 a0006	a0001c0005 a0006c0010 a0001c0005 a0006c0010	a0001c0005t0006 a0006c0010t0001 a0001c0005t0006 a0006c0010t0001	a0001c0005t0006g0198 a0006c0010t0001g0339 a0001c0005t0006g0198 a0006c0010t0001g0339	2	380	0.0053	-12	c.-21 others(23): Show c.-2172_-2161delTTTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding		1880		chr14	TogoVar
BAZ1B_chr7_73435406_73527293	73456937	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02145.hp2 HG02559.hp2 others(1): Show HG01106.hp1 HG02145.hp2 HG02559.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0002g0031 a0001c0001t0002g0165 others(1): Show a0001c0001t0001g0019 a0001c0001t0002g0031 a0001c0001t0002g0165 a0001c0001t0002g0167	4	200	0.0200	-12	c.343 others(31): Show c.3432+2587_3432+2598delTTTTTTTTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	13/19			chr7	TogoVar
BAZ1B_chr7_73435406_73527293	73516851	TGTAACTG others(5): Show TGTAACTGTTCTG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03209.hp2 NA19043.hp2 HG01243.hp2 HG03209.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0197 a0001c0003t0006g0198 a0001c0003t0006g0199 a0001c0003t0006g0197 a0001c0003t0006g0198 a0001c0003t0006g0199	3	200	0.0150	-12	c.107 others(29): Show c.107+4964_107+4975delCAGAACAGTTAC	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	1/19			chr7	TogoVar
BAZ2B_chr2_159313979_159621548	159324625	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG01106.hp2 others(1): Show HG00642.hp2 HG01081.hp1 HG01106.hp2 HG02004.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0024 a0001c0001 a0014c0024	a0001c0001t0001 a0001c0001t0002 a0014c0024t0001 a0001c0001t0001 a0001c0001t0002 a0014c0024t0001	a0001c0001t0001g0084 a0001c0001t0001g0107 a0001c0001t0002g0189 others(1): Show a0001c0001t0001g0084 a0001c0001t0001g0107 a0001c0001t0002g0189 a0014c0024t0001g0088	4	216	0.0185	-12	c.635 others(29): Show c.6353+174_6353+185delGTGTGTGTGTGT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	36/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159389093	ACAACCAA others(5): Show ACAACCAACCAAC	A A	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0018 a0018	a0018c0032 a0018c0032	a0018c0032t0002 a0018c0032t0002	a0018c0032t0002g0154 a0018c0032t0002g0154	1	216	0.0046	-12	c.321 others(29): Show c.3216+240_3216+251delGTTGGTTGGTTG	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	21/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159417162	GGTTTTTT others(5): Show GGTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02965.hp1 HG02257.hp2 HG02965.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0002 a0006c0006t0001 a0006c0006t0002	a0006c0006t0001g0007 a0006c0006t0002g0149 a0006c0006t0001g0007 a0006c0006t0002g0149	2	216	0.0093	-12	c.246 others(31): Show c.2467-4629_2467-4618delAAAAAAAAAAAC	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	13/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159491720	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	216	0.0046	-12	c.-2- others(29): Show c.-2-13011_-2-13000delTTTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159590187	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp2 HG01109.hp2 others(19): Show HG00140.hp1 HG01081.hp2 HG01109.hp2 HG01169.hp1 HG01257.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01978.hp1 HG02135.hp2 HG02698.hp2 HG04184.hp1 NA18961.hp1 NA18965.hp1 NA18979.hp1 NA18985.hp2 NA18998.hp2 NA19000.hp2 NA19055.hp1 NA19066.hp2 NA19081.hp1 NA19084.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0001 a0001c0008 a0002c0002 others(3): Show a0001c0001 a0001c0008 a0002c0002 a0002c0007 a0003c0003 a0012c0021	a0001c0001t0001 a0001c0001t0002 a0001c0008t0002 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0002 a0002c0002t0001 a0002c0002t0002 a0002c0007t0002 a0003c0003t0002 a0012c0021t0002	a0001c0001t0001g0111 a0001c0001t0002g0152 a0001c0001t0002g0169 others(19): Show a0001c0001t0001g0111 a0001c0001t0002g0152 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0008t0002g0159 a0002c0002t0001g0124 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0007t0002g0185 a0003c0003t0002g0177 a0012c0021t0002g0171	22	216	0.1019	-12	c.-46 others(31): Show c.-46+26043_-46+26054delTTTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159608541	GGGAAAAC others(5): Show GGGAAAACCAGAT	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	216	0.0046	-12	c.-46 others(29): Show c.-46+7689_-46+7700delATCTGGTTTTCC	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
BBOF1_chr14_74014349_74071092	74028467	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02809.hp1 HG03195.hp2 others(2): Show HG01109.hp2 HG02809.hp1 HG03195.hp2 HG03453.hp2 NA18906.hp2	a0004 a0005 a0004 a0005	a0004c0007 a0005c0006 a0004c0007 a0005c0006	a0004c0007t0003 a0005c0006t0006 a0004c0007t0003 a0005c0006t0006	a0004c0007t0003g0007 a0005c0006t0006g0193 a0005c0006t0006g0194 others(2): Show a0004c0007t0003g0007 a0005c0006t0006g0193 a0005c0006t0006g0194 a0005c0006t0006g0195 a0005c0006t0006g0196	5	386	0.0130	-12	c.286 others(27): Show c.286-683_286-672delCACACACACACA	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74062051	GAAAAAAA others(5): Show GAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03669.hp1 HG04184.hp2 HG02809.hp2 HG03669.hp1 HG04184.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0004c0009 a0001c0001 a0004c0007 a0004c0009	a0001c0001t0003 a0004c0007t0003 a0004c0009t0007 a0001c0001t0003 a0004c0007t0003 a0004c0009t0007	a0001c0001t0003g0167 a0004c0007t0003g0006 a0004c0009t0007g0139 a0001c0001t0003g0167 a0004c0007t0003g0006 a0004c0009t0007g0139	3	386	0.0078	-12	c.157 others(31): Show c.1579-2619_1579-2608delAAAAAAAAAAAA	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBS12_chr4_122727704_122749939	122733376	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02886.hp2 HG03579.hp2 others(2): Show HG01891.hp2 HG02886.hp2 HG03579.hp2 NA18906.hp1 NA19240.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0036 a0004c0004t0001g0057 a0004c0004t0001g0058 others(1): Show a0004c0004t0001g0036 a0004c0004t0001g0057 a0004c0004t0001g0058 a0004c0004t0001g0059	5	364	0.0137	-12	c.-11 others(27): Show c.-11+530_-11+541delCACACACACACA	BBS12	ENSG00000181004.10	transcript	ENST00000314218.8	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr4	TogoVar
BBS4_chr15_72681207_72743473	72725386	ATGACCCA others(5): Show ATGACCCAGAAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0207 a0002c0002t0001g0207	1	398	0.0025	-12	c.587 others(27): Show c.587+734_587+745delACCCAGAAATTG	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72731065	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0052 a0001c0007t0001g0052	1	398	0.0025	-12	c.712 others(27): Show c.712-220_712-209delTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS5_chr2_169474494_169511655	169477413	GACAACAA others(5): Show GACAACAACAACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0002 a0001c0001t0024g0002	1	398	0.0025	-12	c.-21 others(23): Show c.-2140_-2129delACAACAACAACA	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding		2080		chr2	TogoVar
BBS5_chr2_169474494_169511655	169489851	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00673.hp1 HG01123.hp1 others(44): Show HG00639.hp2 HG00673.hp1 HG01123.hp1 HG01243.hp1 HG01255.hp2 HG01516.hp1 HG01943.hp1 HG02074.hp2 HG02155.hp2 HG02280.hp1 HG02523.hp2 HG02602.hp1 HG03017.hp2 HG03209.hp1 HG03225.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 NA18612.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18962.hp2 NA18964.hp1 NA18972.hp1 NA18981.hp2 NA18982.hp1 NA18989.hp2 NA18992.hp2 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19054.hp1 NA19062.hp1 NA19070.hp1 NA19077.hp1 NA19082.hp1 NA19084.hp1 NA19091.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 others(7): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0022 a0001c0001t0028 a0001c0001t0036 a0001c0001t0044 a0001c0002t0008 a0001c0004t0019 a0002c0005t0002	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0014 others(24): Show a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0093 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0005g0076 a0001c0001t0013g0074 a0001c0001t0022g0075 a0001c0001t0028g0073 a0001c0001t0036g0014 a0001c0001t0044g0006 a0001c0002t0008g0211 a0001c0004t0019g0020 a0002c0005t0002g0006	47	398	0.1181	-12	c.386 others(29): Show c.386+1767_386+1778delTTTTTTTTTTTT	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BBS9_chr7_33124564_33611069	33146698	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0043 a0002c0002t0019g0043	1	268	0.0037	-12	c.112 others(27): Show c.112+343_112+354delAAAAAAAAAAAA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33294290	CATCTATC others(5): Show CATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00733.hp1 others(31): Show HG00140.hp1 HG00558.hp2 HG00733.hp1 HG00738.hp1 HG01109.hp2 HG01168.hp1 HG02055.hp1 HG02132.hp1 HG02165.hp1 HG02258.hp1 HG02451.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03453.hp2 HG03486.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18942.hp1 NA18945.hp1 NA18956.hp1 NA18960.hp1 NA18960.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19054.hp2 NA19056.hp2 NA19090.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0012	a0001c0001 a0002c0002 a0005c0012 others(1): Show a0001c0001 a0002c0002 a0005c0012 a0012c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0014 a0005c0012t0007 a0005c0012t0015 a0012c0018t0001	a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0132 others(31): Show a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0191 a0001c0001t0001g0244 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0002g0111 a0001c0001t0002g0152 a0001c0001t0002g0164 a0001c0001t0002g0190 a0001c0001t0002g0220 a0001c0001t0002g0264 a0001c0001t0004g0014 a0002c0002t0001g0137 a0002c0002t0001g0219 a0002c0002t0003g0018 a0002c0002t0004g0006 a0002c0002t0004g0019 a0002c0002t0014g0005 a0005c0012t0007g0235 a0005c0012t0015g0237 a0012c0018t0001g0127	34	268	0.1269	-12	c.101 others(33): Show c.1016+20387_1016+20398delATCTATCTATCT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33294347	ATCTATCT others(5): Show ATCTATCTCTTTG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02886.hp2 HG03490.hp2 others(3): Show HG02572.hp2 HG02886.hp2 HG03490.hp2 HG03704.hp1 NA18955.hp1 NA19043.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0022 a0001c0001 a0002c0002 a0004c0022	a0001c0001t0001 a0002c0002t0003 a0002c0002t0004 others(1): Show a0001c0001t0001 a0002c0002t0003 a0002c0002t0004 a0004c0022t0001	a0001c0001t0001g0039 a0001c0001t0001g0221 a0002c0002t0003g0026 others(3): Show a0001c0001t0001g0039 a0001c0001t0001g0221 a0002c0002t0003g0026 a0002c0002t0004g0001 a0002c0002t0004g0002 a0004c0022t0001g0185	6	268	0.0224	-12	c.101 others(33): Show c.1016+20394_1016+20405delTATCTCTTTGTC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33294359	GTCCATCC others(5): Show GTCCATCCATCCA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG03453.hp2 others(1): Show HG02055.hp2 HG02109.hp2 HG03453.hp2 HG03579.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0005 a0002c0002 a0006c0005	a0002c0002t0001 a0006c0005t0007 a0002c0002t0001 a0006c0005t0007	a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0179 others(1): Show a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0179 a0006c0005t0007g0139	4	268	0.0149	-12	c.101 others(33): Show c.1016+20436_1016+20447delTCCATCCATCCA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33322356	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00738.hp1 others(33): Show HG00280.hp2 HG00544.hp2 HG00738.hp1 HG01255.hp2 HG01261.hp1 HG01891.hp2 HG02109.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02630.hp2 HG02698.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02970.hp2 HG02976.hp1 HG03239.hp1 HG03453.hp1 HG03540.hp1 HG03579.hp1 HG03834.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp2 NA18612.hp2 NA18993.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19063.hp1 NA19240.hp2 NA20805.hp2 NA20905.hp2	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0001 a0001c0010 a0001c0013 others(5): Show a0001c0001 a0001c0010 a0001c0013 a0001c0021 a0001c0023 a0004c0004 a0004c0022 a0013c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0010t0001 a0001c0013t0010 a0001c0021t0001 a0001c0023t0001 a0004c0004t0001 a0004c0022t0001 a0013c0019t0003	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0106 others(33): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0002g0220 a0001c0001t0002g0247 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0264 a0001c0001t0006g0243 a0001c0010t0001g0084 a0001c0010t0001g0167 a0001c0013t0010g0260 a0001c0021t0001g0251 a0001c0023t0001g0168 a0004c0004t0001g0182 a0004c0004t0001g0183 a0004c0004t0001g0184 a0004c0004t0001g0186 a0004c0004t0001g0187 a0004c0022t0001g0185 a0013c0019t0003g0250	36	268	0.1343	-12	c.101 others(33): Show c.1017-14073_1017-14062delTTTTTTTTTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33328993	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0219 a0002c0002t0001g0219	1	268	0.0037	-12	c.101 others(31): Show c.1017-7424_1017-7413delATTTATTTATTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33368577	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00642.hp1 others(30): Show HG00280.hp2 HG00544.hp2 HG00642.hp1 HG00738.hp1 HG00741.hp2 HG01255.hp2 HG01261.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp1 HG02257.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02886.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp2 HG03453.hp1 HG03540.hp1 HG03579.hp1 HG03834.hp1 HG03927.hp2 HG04199.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18993.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0001c0009 a0001c0013 others(2): Show a0001c0001 a0001c0009 a0001c0013 a0001c0021 a0013c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0009t0001 a0001c0013t0010 a0001c0021t0001 a0013c0019t0003	a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0221 others(30): Show a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0002g0247 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0264 a0001c0001t0003g0010 a0001c0001t0006g0243 a0001c0001t0007g0228 a0001c0001t0017g0226 a0001c0009t0001g0240 a0001c0009t0001g0241 a0001c0013t0010g0260 a0001c0021t0001g0251 a0013c0019t0003g0250	33	268	0.1231	-12	c.178 others(29): Show c.1789+744_1789+755delACACACACACAC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33386455	CATTTATT others(5): Show CATTTATTTATTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp1 HG02809.hp1 others(4): Show HG02559.hp1 HG02572.hp1 HG02809.hp1 HG02818.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0010 a0004c0004 a0004c0022 a0001c0010 a0004c0004 a0004c0022	a0001c0010t0001 a0004c0004t0001 a0004c0022t0001 a0001c0010t0001 a0004c0004t0001 a0004c0022t0001	a0001c0010t0001g0084 a0004c0004t0001g0182 a0004c0004t0001g0183 others(4): Show a0001c0010t0001g0084 a0004c0004t0001g0182 a0004c0004t0001g0183 a0004c0004t0001g0184 a0004c0004t0001g0186 a0004c0004t0001g0187 a0004c0022t0001g0185	7	268	0.0261	-12	c.196 others(31): Show c.1963-1496_1963-1485delATTTATTTATTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33542699	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0084 a0001c0010t0001g0084	1	268	0.0037	-12	c.252 others(31): Show c.2521+8545_2521+8556delGTGTGTGTGTGT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33542788	TGTACACA others(5): Show TGTACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01981.hp2 HG01891.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0249 a0001c0001t0001g0061 a0001c0001t0001g0249	2	268	0.0075	-12	c.252 others(31): Show c.2521+8613_2521+8624delGTACACACACAC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22			chr7	TogoVar
BBS9_chr7_33124564_33611069	33542790	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00733.hp1 others(41): Show HG00280.hp1 HG00280.hp2 HG00733.hp1 HG01106.hp2 HG01109.hp1 HG01243.hp1 HG01255.hp2 HG01358.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01975.hp2 HG02015.hp1 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02486.hp1 HG02615.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03130.hp2 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp2 HG03834.hp1 HG04204.hp1 NA18906.hp2 NA18960.hp2 NA18980.hp2 NA19043.hp1 NA19070.hp1 NA19081.hp2 NA19240.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0007 a0010 a0013	a0001c0001 a0001c0009 a0001c0021 others(8): Show a0001c0001 a0001c0009 a0001c0021 a0002c0002 a0002c0017 a0003c0003 a0005c0011 a0006c0005 a0007c0006 a0010c0014 a0013c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0009t0001 a0001c0021t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0019 a0002c0017t0001 a0003c0003t0001 a0005c0011t0001 a0006c0005t0001 a0006c0005t0007 a0007c0006t0002 a0010c0014t0001 a0013c0019t0003	a0001c0001t0001g0065 a0001c0001t0001g0106 a0001c0001t0001g0108 others(41): Show a0001c0001t0001g0065 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0162 a0001c0001t0001g0173 a0001c0001t0001g0200 a0001c0001t0001g0231 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0263 a0001c0001t0002g0164 a0001c0001t0002g0199 a0001c0001t0002g0247 a0001c0001t0002g0258 a0001c0001t0003g0037 a0001c0001t0004g0007 a0001c0001t0005g0076 a0001c0001t0007g0228 a0001c0001t0009g0214 a0001c0009t0001g0240 a0001c0021t0001g0251 a0002c0002t0001g0137 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0002g0188 a0002c0002t0004g0016 a0002c0002t0019g0043 a0002c0017t0001g0267 a0003c0003t0001g0146 a0005c0011t0001g0236 a0006c0005t0001g0140 a0006c0005t0001g0180 a0006c0005t0007g0139 a0007c0006t0002g0090 a0010c0014t0001g0103 a0013c0019t0003g0250	44	268	0.1642	-12	c.252 others(31): Show c.2521+8652_2521+8663delCACACACACACA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33565781	GTATATAT others(5): Show GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0047 a0003c0003t0001g0047	1	268	0.0037	-12	c.252 others(33): Show c.2521+31640_2521+31651delTATATATATATA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33578877	GCATATGC others(5): Show GCATATGCAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02602.hp2 HG02976.hp2 others(6): Show HG01261.hp2 HG02602.hp2 HG02976.hp2 HG03669.hp2 HG03834.hp1 HG06807.hp1 NA18946.hp2 NA19083.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0003 a0001c0001t0001 a0001c0001t0003 a0002c0002t0003	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0161 others(6): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0161 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0263 a0001c0001t0003g0036 a0001c0001t0003g0038 a0002c0002t0003g0012	9	268	0.0336	-12	c.252 others(33): Show c.2522-25978_2522-25967delAAACATATGCAA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33591866	CCATCATC others(5): Show CCATCATCATCAT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01891.hp1 HG02602.hp2 others(9): Show HG01261.hp2 HG01891.hp1 HG02602.hp2 HG02965.hp1 HG02976.hp2 HG03516.hp2 HG03669.hp2 HG03834.hp1 HG06807.hp1 NA18946.hp2 NA19083.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0161 others(9): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0161 a0001c0001t0001g0227 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0263 a0001c0001t0003g0036 a0001c0001t0003g0038 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0003g0012	12	268	0.0448	-12	c.252 others(33): Show c.2522-12980_2522-12969delCATCATCATCAT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107523218	AGCGGCGG others(5): Show AGCGGCGGCGGCG	A A	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	222	0.0045	-12	c.-15 others(29): Show c.-156+129_-156+140delGGCGGCGGCGGC	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107616425	AGTTTTTG others(5): Show AGTTTTTGTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03540.hp2 HG03579.hp1 HG02055.hp2 HG03540.hp2 HG03579.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0006 a0003c0003 a0005c0006	a0003c0003t0032 a0003c0003t0033 a0005c0006t0048 a0003c0003t0032 a0003c0003t0033 a0005c0006t0048	a0003c0003t0032g0016 a0003c0003t0033g0005 a0005c0006t0048g0004 a0003c0003t0032g0016 a0003c0003t0033g0005 a0005c0006t0048g0004	3	222	0.0135	-12	c.-83 others(31): Show c.-83-29399_-83-29388delTGTTTTTGTTTT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107638780	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00735.hp2 others(35): Show HG00099.hp2 HG00140.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01243.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01993.hp1 HG02132.hp2 HG02145.hp2 HG02486.hp1 HG02615.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp2 NA18906.hp1 NA19058.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0044 a0001c0001t0045 a0001c0001t0049 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0058 a0003c0003t0008	a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0002g0200 others(35): Show a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0002g0200 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0003g0173 a0001c0001t0004g0017 a0001c0001t0004g0218 a0001c0001t0005g0019 a0001c0001t0005g0144 a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0006g0203 a0001c0001t0008g0043 a0001c0001t0008g0110 a0001c0001t0009g0088 a0001c0001t0010g0036 a0001c0001t0010g0100 a0001c0001t0011g0184 a0001c0001t0011g0186 a0001c0001t0014g0030 a0001c0001t0014g0208 a0001c0001t0015g0037 a0001c0001t0015g0038 a0001c0001t0020g0023 a0001c0001t0020g0098 a0001c0001t0023g0102 a0001c0001t0025g0171 a0001c0001t0027g0097 a0001c0001t0044g0086 a0001c0001t0045g0034 a0001c0001t0049g0085 a0001c0001t0052g0029 a0001c0001t0053g0032 a0001c0001t0054g0022 a0001c0001t0058g0192 a0003c0003t0008g0045 a0003c0003t0008g0118	38	222	0.1712	-12	c.-83 others(29): Show c.-83-7014_-83-7003delCACACACACACA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107700408	CATCATCA others(5): Show CATCATCATTATT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03579.hp1 HG02055.hp2 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0032 a0003c0003t0033 a0003c0003t0032 a0003c0003t0033	a0003c0003t0032g0016 a0003c0003t0033g0005 a0003c0003t0032g0016 a0003c0003t0033g0005	2	222	0.0090	-12	c.-9- others(29): Show c.-9-10041_-9-10030delCATCATTATTAT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107700411	CATCATTA others(5): Show CATCATTATTATT	C C	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19070.hp1 NA19058.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0061 a0001c0001t0001g0063	2	222	0.0090	-12	c.-9- others(29): Show c.-9-10038_-9-10027delCATTATTATTAT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107769169	CATAGATA others(5): Show CATAGATAGATAG	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02735.hp1 others(2): Show HG01070.hp2 HG01071.hp2 HG02735.hp1 HG04184.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0039 a0001c0001t0003 a0001c0001t0005 a0001c0001t0039	a0001c0001t0003g0095 a0001c0001t0003g0148 a0001c0001t0005g0194 others(2): Show a0001c0001t0003g0095 a0001c0001t0003g0148 a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0039g0147	5	222	0.0225	-12	c.907 others(29): Show c.907-3409_907-3398delTAGATAGATAGA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107769219	TAGATAGA others(5): Show TAGATAGATAGAC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03579.hp1 HG01346.hp2 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0007 a0003c0003t0032 a0001c0001t0007 a0003c0003t0032	a0001c0001t0007g0067 a0003c0003t0032g0016 a0001c0001t0007g0067 a0003c0003t0032g0016	2	222	0.0090	-12	c.907 others(29): Show c.907-3398_907-3387delACAGATAGATAG	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107779014	TATATATA others(5): Show TATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp2 HG02257.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0210 a0001c0001t0016g0211 a0001c0001t0016g0210 a0001c0001t0016g0211	2	222	0.0090	-12	c.220 others(29): Show c.2203+497_2203+508delTATATACACACA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797337	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	222	0.0045	-12	c.235 others(31): Show c.2354-1170_2354-1159delTATATATATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BCAM_chr19_44804103_44826421	44826014	GAGGAGGT others(5): Show GAGGAGGTGAGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	-12	c.50 others(23): Show c.5094_*5105delAGGAGGTGAGAT	BCAM	ENSG00000187244.12	transcript	ENST00000270233.12	protein_coding		4594		chr19	TogoVar
BCAP29_chr7_107575246_107625478	107598894	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(133): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00621.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01358.hp2 HG01433.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02258.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18945.hp1 NA18948.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19004.hp1 NA19006.hp1 NA19007.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19067.hp2 NA19072.hp1 NA19074.hp1 NA19075.hp1 NA19079.hp1 NA19082.hp1 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(121): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0128 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0003g0005 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0105 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0354 a0001c0001t0006g0060 a0001c0001t0006g0065 a0001c0001t0006g0066 a0001c0001t0006g0070 a0001c0001t0006g0079 a0001c0001t0006g0080 a0001c0001t0006g0086 a0001c0001t0008g0004 a0001c0001t0011g0179 a0001c0001t0011g0182 a0001c0001t0014g0175 a0001c0001t0017g0341 a0001c0001t0018g0089	136	398	0.3417	-12	c.481 others(29): Show c.481-1476_481-1465delACACACACACAC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107598921	ACACACAC others(5): Show ACACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03225.hp1 HG03579.hp1 HG02922.hp2 HG03225.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0058 a0001c0001t0001g0082 a0001c0001t0001g0088	3	398	0.0075	-12	c.481 others(29): Show c.481-1472_481-1461delACACACACGCAC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107612391	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	398	0.0025	-12	c.590 others(27): Show c.590-903_590-892delATATATATATAT	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAR1_chr16_75223181_75256624	75245964	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	392	0.0026	-12	c.13- others(27): Show c.13-2886_13-2875delAAAAAAAAAAAA	BCAR1	ENSG00000050820.17	transcript	ENST00000162330.10	protein_coding	1/6			chr16	TogoVar
BCAR3_chr1_93556741_93686837	93564290	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	202	0.0050	-12	c.230 others(31): Show c.2300-1883_2300-1872delAAAAAAAAAAAA	BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding	11/11			chr1	TogoVar

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