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
BATF3_chr1_212681417_212704840	212687996	A A	AAAGGAAG others(1): Show AAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18962.hp1 NA19062.hp1 HG02132.hp1 NA18962.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0167 a0001c0001t0001g0055 a0001c0001t0001g0167	3	462	0.0065	8	c.196 others(25): Show c.196-1025_196-1018dupCCTTCCTT	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding	2/2			chr1	TogoVar
BATF3_chr1_212681417_212704840	212696423	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00423.hp1 others(45): Show HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00597.hp1 HG00673.hp1 HG00673.hp2 HG01070.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02129.hp1 HG02155.hp1 HG02293.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03831.hp1 HG04228.hp1 NA18940.hp2 NA18952.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18981.hp1 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19055.hp1 NA19058.hp2 NA19066.hp1 NA19078.hp1 NA19080.hp2 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0003c0004t0001 a0001c0001t0001 a0001c0001t0003 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0017 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0003g0016 a0003c0004t0001g0070 a0003c0004t0001g0239	48	462	0.1039	8	c.195 others(23): Show c.195+530_195+537dupACACACAC	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding	2/2			chr1	TogoVar
BATF_chr14_75517469_75551992	75539424	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG00741.hp1 others(41): Show HG00323.hp1 HG00735.hp2 HG00741.hp1 HG01106.hp2 HG01109.hp1 HG01361.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02148.hp2 HG02300.hp1 HG02300.hp2 HG02738.hp1 HG03017.hp1 HG03710.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18945.hp1 NA18952.hp2 NA18964.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18982.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19064.hp2 NA19079.hp1 NA19081.hp2 NA19090.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(37): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0101 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0291 a0001c0001t0002g0209 a0001c0001t0003g0018	44	376	0.1170	8	c.169 others(25): Show c.169-7018_169-7011dupTTTTTTTT	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(1): Show TTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00609.hp1 others(51): Show HG00323.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01109.hp1 HG01175.hp2 HG01243.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG02071.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02622.hp2 HG02698.hp2 HG02723.hp1 HG02809.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03471.hp1 HG03491.hp2 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG04228.hp1 NA18612.hp1 NA18906.hp1 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18963.hp2 NA18969.hp2 NA18985.hp2 NA18992.hp2 NA19001.hp2 NA19010.hp1 NA19043.hp1 NA19063.hp2 NA19068.hp1 NA19079.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(48): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0184 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0268 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0003g0018 a0001c0001t0005g0251 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0074	54	376	0.1436	8	c.33 others(19): Show c.3395_*3396insTTTCTTTC	BATF	ENSG00000156127.8	transcript	ENST00000286639.8	protein_coding		3075		chr14	TogoVar
BATF_chr14_75517469_75551992	75550069	G G	GCTTTATT others(1): Show GCTTTATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02647.hp1 HG02922.hp2 others(2): Show HG02451.hp1 HG02647.hp1 HG02922.hp2 HG06807.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0073 a0001c0001t0001g0182 a0001c0001t0001g0014 a0001c0001t0001g0073 a0001c0001t0001g0182	5	376	0.0133	8	c.33 others(19): Show c.3398_*3399insCTTTATTT	BATF	ENSG00000156127.8	transcript	ENST00000286639.8	protein_coding		3078		chr14	TogoVar
BATF_chr14_75517469_75551992	75550069	G G	GCTTTCTT others(1): Show GCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00621.hp2 others(2): Show HG00323.hp2 HG00438.hp1 HG00621.hp2 HG01168.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 others(2): Show a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0095	5	376	0.0133	8	c.33 others(19): Show c.3398_*3399insCTTTCTTT	BATF	ENSG00000156127.8	transcript	ENST00000286639.8	protein_coding		3078		chr14	TogoVar
BAX_chr19_48949875_48966798	48954325	C C	CAAAAAAA others(1): Show CAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG00738.hp2 others(48): Show HG00639.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01175.hp2 HG01891.hp2 HG01981.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02148.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02809.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03540.hp2 HG04199.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18975.hp2 NA18982.hp2 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA19005.hp2 NA19007.hp1 NA19043.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19074.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(35): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0124 a0001c0001t0001g0139 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0002g0037 a0001c0001t0002g0111	51	418	0.1220	8	c.-60 others(17): Show c.-604_-603insAAAAAAAA	BAX	ENSG00000087088.21	transcript	ENST00000345358.12	protein_coding		549		chr19	TogoVar
BAZ1A_chr14_34747731_34880360	34754426	A A	AAAAAAAA others(1): Show AAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG00609.hp2 others(65): Show HG00099.hp1 HG00558.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01515.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02132.hp2 HG02486.hp2 HG02615.hp1 HG02723.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG06807.hp1 NA18906.hp2 NA18940.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.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 NA18994.hp2 NA19001.hp1 NA19010.hp2 NA19012.hp2 NA19056.hp1 NA19058.hp2 NA19066.hp1 NA19067.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0002 a0002c0006t0002 a0002c0006t0007 a0001c0002t0002 a0002c0006t0002 a0002c0006t0007	a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0061 others(65): Show a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0002g0105 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0138 a0001c0002t0002g0139 a0002c0006t0002g0051 a0002c0006t0002g0052 a0002c0006t0002g0053 a0002c0006t0002g0054 a0002c0006t0002g0055 a0002c0006t0002g0057 a0002c0006t0007g0056	68	380	0.1790	8	c.447 others(25): Show c.4474+400_4474+401insCTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	26/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34783455	C C	CCTCCTGA others(1): Show CCTCCTGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp2 HG03471.hp1 others(1): Show HG02257.hp2 HG02572.hp2 HG03471.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0151 a0001c0002t0003g0156 a0001c0002t0003g0157 others(1): Show a0001c0002t0003g0151 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0161	4	380	0.0105	8	c.199 others(25): Show c.1998-231_1998-224dupCTCAGGAG	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	15/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34784367	C C	CCAAAAAA others(1): Show CCAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02897.hp1 HG02055.hp2 HG02257.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0004 a0001c0004t0004 a0001c0002t0004 a0001c0004t0004	a0001c0002t0004g0365 a0001c0002t0004g0367 a0001c0004t0004g0042 a0001c0002t0004g0365 a0001c0002t0004g0367 a0001c0004t0004g0042	3	380	0.0079	8	c.183 others(25): Show c.1832-441_1832-440insTTTTTTTG	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	14/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34796165	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02818.hp2 HG03239.hp2 others(1): Show HG01106.hp1 HG02818.hp2 HG03239.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0076 a0001c0002t0002g0091 a0001c0002t0002g0116 others(1): Show a0001c0002t0002g0076 a0001c0002t0002g0091 a0001c0002t0002g0116 a0001c0002t0003g0001	4	380	0.0105	8	c.112 others(25): Show c.1129-408_1129-401dupGTGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	9/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34825447	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00423.hp2 others(18): Show HG00140.hp2 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG01071.hp2 HG01123.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG02004.hp1 HG02027.hp1 HG02109.hp1 HG03239.hp2 HG03834.hp2 HG06807.hp1 NA18968.hp1 NA18975.hp1 NA19001.hp1 NA19010.hp2 NA19083.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0005 a0001c0002t0002 a0001c0003t0005	a0001c0002t0002g0071 a0001c0002t0002g0076 a0001c0002t0002g0091 others(18): Show a0001c0002t0002g0071 a0001c0002t0002g0076 a0001c0002t0002g0091 a0001c0002t0002g0101 a0001c0002t0002g0105 a0001c0002t0002g0107 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0113 a0001c0002t0002g0117 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0127 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0139 a0001c0003t0005g0004 a0001c0003t0005g0011 a0001c0003t0005g0019 a0001c0003t0005g0021 a0001c0003t0005g0022	21	380	0.0553	8	c.536 others(23): Show c.536+558_536+565dupTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	4/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832222	A A	ATATATAT others(1): Show ATATATATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00423.hp2 others(14): Show HG00280.hp1 HG00323.hp1 HG00423.hp2 HG01167.hp1 HG01169.hp1 HG01496.hp2 HG02132.hp1 HG02523.hp2 HG03688.hp1 NA18963.hp2 NA18988.hp2 NA19005.hp2 NA19010.hp1 NA19054.hp2 NA19076.hp1 NA19083.hp2 NA19087.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0012 a0001c0003t0005 a0001c0003t0012	a0001c0003t0005g0005 a0001c0003t0005g0006 a0001c0003t0005g0007 others(14): Show a0001c0003t0005g0005 a0001c0003t0005g0006 a0001c0003t0005g0007 a0001c0003t0005g0008 a0001c0003t0005g0009 a0001c0003t0005g0010 a0001c0003t0005g0011 a0001c0003t0005g0012 a0001c0003t0005g0013 a0001c0003t0005g0014 a0001c0003t0005g0015 a0001c0003t0005g0019 a0001c0003t0005g0020 a0001c0003t0005g0021 a0001c0003t0005g0022 a0001c0003t0005g0048 a0001c0003t0012g0380	17	380	0.0447	8	c.393 others(25): Show c.393-6067_393-6066insCATATATA	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1B_chr7_73435406_73527293	73454133	T T	TATAAATA others(1): Show TATAAATAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01256.hp1 HG01258.hp2 others(9): Show HG00099.hp2 HG01256.hp1 HG01258.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG02486.hp1 HG02738.hp2 HG03225.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0037 others(9): Show a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0037 a0001c0001t0002g0053 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0192 a0001c0001t0005g0196	12	200	0.0600	8	c.343 others(27): Show c.3433-3147_3433-3140dupTTATTTAT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	13/19			chr7	TogoVar
BAZ1B_chr7_73435406_73527293	73484292	A A	AAGATAGA others(1): Show AAGATAGAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG01256.hp2 others(26): Show HG00280.hp1 HG00597.hp1 HG01256.hp2 HG02015.hp2 HG02027.hp1 HG02257.hp2 HG02293.hp1 HG03490.hp1 HG03654.hp2 HG04228.hp2 NA18747.hp2 NA18906.hp1 NA18948.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18964.hp1 NA18969.hp1 NA18977.hp1 NA18979.hp2 NA18985.hp1 NA18991.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19064.hp1 NA19070.hp2 NA19081.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0005t0002	a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0025 others(26): Show a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0007g0175 a0001c0001t0007g0176 a0001c0001t0010g0044 a0001c0001t0011g0052 a0001c0001t0015g0179 a0001c0005t0002g0058	29	200	0.1450	8	c.891 others(25): Show c.891+4894_891+4901dupATCTATCT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	6/19			chr7	TogoVar
BAZ2A_chr12_56590596_56635326	56597562	G G	GCACACAC others(1): Show GCACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00738.hp2 others(32): Show HG00140.hp1 HG00280.hp2 HG00738.hp2 HG01123.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG02145.hp1 HG02486.hp2 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03516.hp1 NA18522.hp1 NA18942.hp2 NA18975.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0002c0004 a0005c0014	a0001c0001t0006 a0001c0001t0013 a0001c0001t0027 others(11): Show a0001c0001t0006 a0001c0001t0013 a0001c0001t0027 a0001c0001t0037 a0001c0001t0046 a0001c0001t0052 a0001c0001t0083 a0001c0003t0020 a0001c0003t0022 a0001c0003t0066 a0001c0003t0067 a0001c0007t0035 a0002c0004t0024 a0005c0014t0037	a0001c0001t0006g0023 a0001c0001t0006g0024 a0001c0001t0006g0025 others(28): Show a0001c0001t0006g0023 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0006g0258 a0001c0001t0006g0261 a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0001t0013g0265 a0001c0001t0013g0266 a0001c0001t0013g0267 a0001c0001t0013g0268 a0001c0001t0013g0269 a0001c0001t0027g0031 a0001c0001t0027g0040 a0001c0001t0037g0221 a0001c0001t0046g0147 a0001c0001t0052g0151 a0001c0001t0083g0270 a0001c0003t0020g0022 a0001c0003t0020g0232 a0001c0003t0022g0219 a0001c0003t0022g0233 a0001c0003t0022g0235 a0001c0003t0066g0226 a0001c0003t0067g0236 a0001c0007t0035g0254 a0001c0007t0035g0255 a0002c0004t0024g0256 a0002c0004t0024g0257 a0002c0004t0024g0264 a0005c0014t0037g0241	35	316	0.1108	8	c.10 others(19): Show c.1048_*1055dupTGTGTGTG	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	1055		chr12	TogoVar
BAZ2A_chr12_56590596_56635326	56597562	G G	GCGCACAC others(1): Show GCGCACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG02109.hp1 HG02258.hp2 others(16): Show HG00323.hp2 HG02109.hp1 HG02258.hp2 HG02559.hp1 HG02572.hp2 HG02647.hp1 HG02717.hp1 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03540.hp2 HG06807.hp1 NA19043.hp2 NA21309.hp1	a0001 a0011 a0001 a0011	a0001c0002 a0011c0017 a0001c0002 a0011c0017	a0001c0002t0021 a0001c0002t0029 a0001c0002t0033 others(11): Show a0001c0002t0021 a0001c0002t0029 a0001c0002t0033 a0001c0002t0034 a0001c0002t0057 a0001c0002t0061 a0001c0002t0062 a0001c0002t0063 a0001c0002t0069 a0001c0002t0071 a0001c0002t0072 a0001c0002t0073 a0001c0002t0074 a0011c0017t0056	a0001c0002t0021g0104 a0001c0002t0021g0208 a0001c0002t0021g0217 others(15): Show a0001c0002t0021g0104 a0001c0002t0021g0208 a0001c0002t0021g0217 a0001c0002t0029g0248 a0001c0002t0029g0249 a0001c0002t0033g0105 a0001c0002t0033g0212 a0001c0002t0034g0019 a0001c0002t0057g0218 a0001c0002t0061g0222 a0001c0002t0062g0240 a0001c0002t0063g0216 a0001c0002t0069g0209 a0001c0002t0071g0100 a0001c0002t0072g0207 a0001c0002t0073g0103 a0001c0002t0074g0213 a0011c0017t0056g0252	19	316	0.0601	8	c.10 others(19): Show c.1055_*1056insTGTGTGCG	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	1055		chr12	TogoVar
BAZ2A_chr12_56590596_56635326	56597637	G G	GACACACA others(1): Show GACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG02109.hp1 HG02895.hp2 others(5): Show HG00323.hp2 HG02109.hp1 HG02895.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0021 a0001c0002t0029 a0001c0002t0059 others(2): Show a0001c0002t0021 a0001c0002t0029 a0001c0002t0059 a0001c0002t0060 a0001c0003t0058	a0001c0002t0021g0104 a0001c0002t0021g0208 a0001c0002t0021g0217 others(5): Show a0001c0002t0021g0104 a0001c0002t0021g0208 a0001c0002t0021g0217 a0001c0002t0029g0248 a0001c0002t0029g0249 a0001c0002t0059g0215 a0001c0002t0060g0090 a0001c0003t0058g0224	8	316	0.0253	8	c.97 others(17): Show c.973_*980dupGTGTGTGT	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	980		chr12	TogoVar
BAZ2A_chr12_56590596_56635326	56609023	A A	ACCACCAC others(1): Show ACCACCACG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG02280.hp1 others(17): Show HG01109.hp2 HG02145.hp2 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0006c0015 a0001c0003 a0006c0015	a0001c0003t0020 a0001c0003t0022 a0001c0003t0023 others(10): Show a0001c0003t0020 a0001c0003t0022 a0001c0003t0023 a0001c0003t0032 a0001c0003t0044 a0001c0003t0051 a0001c0003t0058 a0001c0003t0064 a0001c0003t0066 a0001c0003t0067 a0001c0003t0068 a0001c0003t0070 a0006c0015t0055	a0001c0003t0020g0022 a0001c0003t0020g0232 a0001c0003t0022g0219 others(15): Show a0001c0003t0020g0022 a0001c0003t0020g0232 a0001c0003t0022g0219 a0001c0003t0022g0233 a0001c0003t0022g0235 a0001c0003t0023g0021 a0001c0003t0023g0205 a0001c0003t0032g0228 a0001c0003t0032g0230 a0001c0003t0044g0234 a0001c0003t0051g0231 a0001c0003t0058g0224 a0001c0003t0064g0229 a0001c0003t0066g0226 a0001c0003t0067g0236 a0001c0003t0068g0223 a0001c0003t0070g0225 a0006c0015t0055g0227	20	316	0.0633	8	c.209 others(25): Show c.2092+705_2092+712dupCGTGGTGG	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	10/28			chr12	TogoVar
BAZ2B_chr2_159313979_159621548	159389093	A A	ACAACCAA others(1): Show ACAACCAAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01257.hp1 HG01258.hp2 others(7): Show HG01192.hp1 HG01257.hp1 HG01258.hp2 HG02135.hp2 HG03516.hp1 HG03516.hp2 HG06807.hp1 NA19070.hp1 NA19240.hp1 NA19240.hp2	a0001 a0021 a0001 a0021	a0001c0001 a0021c0012 a0001c0001 a0021c0012	a0001c0001t0001 a0001c0001t0002 a0021c0012t0001 a0001c0001t0001 a0001c0001t0002 a0021c0012t0001	a0001c0001t0001g0029 a0001c0001t0001g0095 a0001c0001t0001g0096 others(7): Show a0001c0001t0001g0029 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0207 a0001c0001t0002g0209 a0021c0012t0001g0073	10	216	0.0463	8	c.321 others(25): Show c.3216+244_3216+251dupGTTGGTTG	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	21/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159415444	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02965.hp1 NA18946.hp1 others(7): Show HG00673.hp1 HG02965.hp1 NA18946.hp1 NA18952.hp1 NA18985.hp2 NA18986.hp1 NA18999.hp1 NA19057.hp1 NA19064.hp1 NA19066.hp2	a0001 a0006 a0009 others(1): Show a0001 a0006 a0009 a0016	a0001c0001 a0006c0006 a0009c0015 others(1): Show a0001c0001 a0006c0006 a0009c0015 a0016c0026	a0001c0001t0001 a0001c0001t0002 a0006c0006t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0006c0006t0002 a0009c0015t0002 a0016c0026t0001	a0001c0001t0001g0078 a0001c0001t0001g0111 a0001c0001t0002g0164 others(7): Show a0001c0001t0001g0078 a0001c0001t0001g0111 a0001c0001t0002g0164 a0001c0001t0002g0176 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0006c0006t0002g0149 a0009c0015t0002g0168 a0016c0026t0001g0075	10	216	0.0463	8	c.246 others(27): Show c.2467-2907_2467-2900dupTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	13/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159604932	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(58): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01978.hp1 HG02004.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02895.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03516.hp1 HG03540.hp2 HG03710.hp1 HG03834.hp2 HG04184.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18960.hp2 NA18965.hp2 NA18968.hp2 NA18979.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19007.hp2 NA19055.hp1 NA19057.hp1 NA19064.hp1 NA19072.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0009 a0012 a0018 a0020	a0001c0001 a0001c0008 a0001c0020 others(8): Show a0001c0001 a0001c0008 a0001c0020 a0002c0002 a0002c0007 a0003c0003 a0005c0005 a0009c0015 a0012c0021 a0018c0032 a0020c0014	a0001c0001t0001 a0001c0001t0002 a0001c0008t0002 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0002 a0001c0020t0001 a0002c0002t0001 a0002c0002t0002 a0002c0007t0001 a0002c0007t0002 a0003c0003t0002 a0005c0005t0002 a0009c0015t0002 a0012c0021t0002 a0018c0032t0002 a0020c0014t0002	a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0095 others(58): Show a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0213 a0001c0008t0002g0159 a0001c0008t0002g0179 a0001c0020t0001g0046 a0002c0002t0001g0043 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0092 a0002c0002t0002g0151 a0002c0002t0002g0163 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0007t0001g0045 a0002c0007t0002g0185 a0003c0003t0002g0177 a0003c0003t0002g0182 a0005c0005t0002g0167 a0005c0005t0002g0173 a0009c0015t0002g0168 a0012c0021t0002g0171 a0018c0032t0002g0154 a0020c0014t0002g0181	61	216	0.2824	8	c.-46 others(27): Show c.-46+11302_-46+11309dupCACACACA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159604951	T T	TGTGTGTG others(1): Show TGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA20129.hp2 HG00642.hp2 NA20129.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0024 a0001c0001 a0014c0024	a0001c0001t0001 a0014c0024t0001 a0001c0001t0001 a0014c0024t0001	a0001c0001t0001g0032 a0014c0024t0001g0088 a0001c0001t0001g0032 a0014c0024t0001g0088	2	216	0.0093	8	c.-46 others(27): Show c.-46+11290_-46+11291insGCACACAC	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
BBC3_chr19_47215824_47236199	47217194	C C	CTTTTTTT others(1): Show CTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00597.hp1 HG00741.hp2 others(47): Show HG00323.hp1 HG00597.hp1 HG00741.hp2 HG01175.hp1 HG01192.hp2 HG01361.hp1 HG01884.hp1 HG01928.hp1 HG02055.hp1 HG02055.hp2 HG02135.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG04199.hp1 HG04199.hp2 NA18957.hp1 NA18977.hp1 NA18979.hp2 NA18993.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19030.hp1 NA19030.hp2 NA19063.hp2 NA19074.hp1 NA19090.hp1 NA19090.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021	a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0050 others(40): Show a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0074 a0001c0001t0001g0098 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0114 a0001c0001t0002g0125 a0001c0001t0002g0202 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0003g0004 a0001c0001t0003g0035 a0001c0001t0003g0079 a0001c0001t0003g0107 a0001c0001t0003g0140 a0001c0001t0003g0161 a0001c0001t0003g0195 a0001c0001t0004g0010 a0001c0001t0004g0025 a0001c0001t0004g0034 a0001c0001t0004g0082 a0001c0001t0004g0147 a0001c0001t0004g0164 a0001c0001t0004g0175 a0001c0001t0004g0177 a0001c0001t0004g0183 a0001c0001t0004g0201 a0001c0001t0006g0062 a0001c0001t0007g0019 a0001c0001t0007g0059 a0001c0001t0007g0233 a0001c0001t0007g0242 a0001c0001t0008g0049 a0001c0001t0008g0139 a0001c0001t0011g0023 a0001c0001t0013g0156 a0001c0001t0015g0160 a0001c0001t0021g0066	50	412	0.1214	8	c.46 others(19): Show c.4607_*4608insAAAAAAAA	BBC3	ENSG00000105327.18	transcript	ENST00000439096.3	protein_coding		3629		chr19	TogoVar
BBLN_chr9_128155265_128168924	128155573	G G	GCCCCCCC others(1): Show GCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00621.hp1 HG00738.hp1 others(24): Show HG00609.hp2 HG00621.hp1 HG00738.hp1 HG00741.hp2 HG01261.hp1 HG01261.hp2 HG01516.hp2 HG01981.hp2 HG02015.hp2 HG02145.hp1 HG02615.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02970.hp1 HG03130.hp2 HG03195.hp1 HG03688.hp2 NA18747.hp2 NA18943.hp1 NA18985.hp2 NA18998.hp2 NA19005.hp1 NA19007.hp2 NA19081.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0038	27	396	0.0682	8	c.-48 others(19): Show c.-4835_-4834insCCCCCCCC	BBLN	ENSG00000171159.5	transcript	ENST00000372994.2	protein_coding		4691		chr9	TogoVar
BBOF1_chr14_74014349_74071092	74038021	A A	ACCACTTA others(1): Show ACCACTTAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(284): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(10): Show a0000 a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0014	a0000c0018 a0001c0001 a0002c0002 others(13): Show a0000c0018 a0001c0001 a0002c0002 a0003c0003 a0003c0015 a0004c0004 a0004c0007 a0004c0009 a0005c0006 a0006c0005 a0008c0010 a0009c0012 a0010c0011 a0011c0013 a0012c0014 a0014c0019	a0000c0018t0003 a0001c0001t0002 a0001c0001t0003 others(24): Show a0000c0018t0003 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0002c0002t0001 a0002c0002t0010 a0003c0003t0001 a0003c0003t0003 a0003c0003t0015 a0003c0015t0001 a0004c0004t0004 a0004c0007t0003 a0004c0009t0007 a0005c0006t0001 a0005c0006t0006 a0006c0005t0003 a0006c0005t0005 a0006c0005t0008 a0006c0005t0016 a0008c0010t0001 a0009c0012t0009 a0010c0011t0002 a0011c0013t0001 a0012c0014t0001 a0014c0019t0002	a0000c0018t0003g0175 a0001c0001t0002g0003 a0001c0001t0002g0292 others(282): Show a0000c0018t0003g0175 a0001c0001t0002g0003 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0297 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0366 a0001c0001t0002g0367 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0011g0317 a0001c0001t0012g0160 a0001c0001t0013g0302 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0010g0362 a0002c0002t0010g0363 a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0014 a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0018 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0025 a0003c0003t0001g0026 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0030 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0033 a0003c0003t0001g0034 a0003c0003t0001g0035 a0003c0003t0001g0036 a0003c0003t0001g0037 a0003c0003t0001g0038 a0003c0003t0001g0039 a0003c0003t0001g0040 a0003c0003t0001g0042 a0003c0003t0001g0043 a0003c0003t0001g0044 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0050 a0003c0003t0001g0051 a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0054 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0058 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0063 a0003c0003t0001g0064 a0003c0003t0001g0065 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0001g0071 a0003c0003t0001g0072 a0003c0003t0001g0073 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0001g0076 a0003c0003t0001g0077 a0003c0003t0001g0078 a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0001g0082 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0001g0085 a0003c0003t0001g0086 a0003c0003t0001g0190 a0003c0003t0001g0191 a0003c0003t0001g0382 a0003c0003t0003g0189 a0003c0003t0015g0027 a0003c0015t0001g0059 a0004c0004t0004g0002 a0004c0004t0004g0087 a0004c0004t0004g0088 a0004c0004t0004g0089 a0004c0004t0004g0090 a0004c0004t0004g0091 a0004c0004t0004g0092 a0004c0004t0004g0093 a0004c0004t0004g0094 a0004c0004t0004g0095 a0004c0004t0004g0096 a0004c0004t0004g0097 a0004c0004t0004g0098 a0004c0004t0004g0099 a0004c0004t0004g0100 a0004c0004t0004g0101 a0004c0004t0004g0102 a0004c0004t0004g0103 a0004c0004t0004g0104 a0004c0004t0004g0105 a0004c0004t0004g0106 a0004c0004t0004g0107 a0004c0004t0004g0108 a0004c0004t0004g0109 a0004c0004t0004g0110 a0004c0004t0004g0111 a0004c0004t0004g0112 a0004c0004t0004g0113 a0004c0004t0004g0114 a0004c0004t0004g0115 a0004c0004t0004g0116 a0004c0004t0004g0117 a0004c0004t0004g0118 a0004c0004t0004g0119 a0004c0004t0004g0120 a0004c0004t0004g0121 a0004c0004t0004g0122 a0004c0004t0004g0123 a0004c0004t0004g0124 a0004c0004t0004g0125 a0004c0004t0004g0126 a0004c0004t0004g0127 a0004c0004t0004g0128 a0004c0004t0004g0129 a0004c0004t0004g0130 a0004c0007t0003g0004 a0004c0007t0003g0005 a0004c0007t0003g0006 a0004c0007t0003g0007 a0004c0007t0003g0361 a0004c0007t0003g0364 a0004c0007t0003g0365 a0004c0009t0007g0138 a0004c0009t0007g0139 a0004c0009t0007g0140 a0005c0006t0001g0131 a0005c0006t0001g0132 a0005c0006t0001g0133 a0005c0006t0001g0134 a0005c0006t0001g0135 a0005c0006t0001g0136 a0005c0006t0001g0137 a0005c0006t0006g0193 a0005c0006t0006g0194 a0005c0006t0006g0195 a0005c0006t0006g0196 a0006c0005t0003g0374 a0006c0005t0003g0375 a0006c0005t0005g0369 a0006c0005t0005g0370 a0006c0005t0005g0371 a0006c0005t0005g0372 a0006c0005t0005g0373 a0006c0005t0008g0378 a0006c0005t0008g0379 a0006c0005t0008g0380 a0006c0005t0016g0381 a0008c0010t0001g0041 a0008c0010t0001g0055 a0009c0012t0009g0376 a0009c0012t0009g0377 a0010c0011t0002g0314 a0010c0011t0002g0337 a0011c0013t0001g0017 a0012c0014t0001g0204 a0014c0019t0002g0291	287	386	0.7435	8	c.496 others(25): Show c.496-2542_496-2541insACTTAGCC	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74042879	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01168.hp2 HG01169.hp1 others(3): Show HG00323.hp1 HG01168.hp2 HG01169.hp1 HG03927.hp1 NA18961.hp2 NA18997.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0095 a0004c0004t0004g0114 a0004c0004t0004g0126 others(3): Show a0004c0004t0004g0095 a0004c0004t0004g0114 a0004c0004t0004g0126 a0004c0004t0004g0128 a0004c0004t0004g0129 a0004c0004t0004g0130	6	386	0.0155	8	c.576 others(25): Show c.576+2259_576+2266dupACACACAC	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74047407	C C	CTTTATTT others(1): Show CTTTATTTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp1 HG01243.hp1 others(26): Show HG01109.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG02027.hp2 HG02280.hp2 HG02451.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 NA18906.hp2 NA18944.hp2 NA19043.hp2 NA19058.hp2 NA19077.hp2	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0005 a0006	a0002c0002 a0003c0003 a0004c0007 others(2): Show a0002c0002 a0003c0003 a0004c0007 a0005c0006 a0006c0005	a0002c0002t0001 a0002c0002t0010 a0003c0003t0001 others(4): Show a0002c0002t0001 a0002c0002t0010 a0003c0003t0001 a0004c0007t0003 a0005c0006t0001 a0005c0006t0006 a0006c0005t0008	a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 others(26): Show a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0208 a0002c0002t0001g0210 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0232 a0002c0002t0001g0235 a0002c0002t0010g0362 a0002c0002t0010g0363 a0003c0003t0001g0190 a0003c0003t0001g0191 a0004c0007t0003g0364 a0005c0006t0001g0131 a0005c0006t0001g0132 a0005c0006t0001g0134 a0005c0006t0001g0135 a0005c0006t0001g0136 a0005c0006t0006g0193 a0005c0006t0006g0194 a0005c0006t0006g0195 a0005c0006t0006g0196 a0006c0005t0008g0378 a0006c0005t0008g0379 a0006c0005t0008g0380	29	386	0.0751	8	c.648 others(23): Show c.648-491_648-484dupATTTATTT	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOX1_chr11_27035815_27132809	27038522	T T	TACACACA others(1): Show TACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(45): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01255.hp1 HG01261.hp2 HG01515.hp2 HG01516.hp2 HG01978.hp1 HG01981.hp2 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02559.hp2 HG02615.hp1 HG02886.hp1 HG02895.hp1 HG03225.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp2 HG03834.hp2 HG06807.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18972.hp1 NA18980.hp1 NA18983.hp1 NA19001.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0003t0001 a0001c0003t0005 a0001c0009t0005	a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0022 others(40): Show a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0115 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0233 a0001c0001t0002g0026 a0001c0001t0007g0033 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0005g0028 a0001c0002t0007g0027 a0001c0003t0001g0002 a0001c0003t0001g0007 a0001c0003t0001g0023 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0048 a0001c0003t0005g0004 a0001c0003t0005g0006 a0001c0003t0005g0036 a0001c0003t0005g0040 a0001c0003t0005g0047 a0001c0009t0005g0051	48	318	0.1509	8	c.-28 others(19): Show c.-2808_-2807insACACACAC	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding		2292		chr11	TogoVar
BBOX1_chr11_27035815_27132809	27057063	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01496.hp1 HG02723.hp2 others(3): Show HG01243.hp2 HG01496.hp1 HG02723.hp2 HG03540.hp2 NA19056.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0228 a0001c0002t0001g0003 a0001c0002t0001g0057 others(1): Show a0001c0001t0001g0228 a0001c0002t0001g0003 a0001c0002t0001g0057 a0001c0002t0001g0121	6	318	0.0189	8	c.220 others(23): Show c.220-138_220-137insAAAAAAAA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8			chr11	TogoVar
BBOX1_chr11_27035815_27132809	27085555	A A	ATCTCTCT others(1): Show ATCTCTCTC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01123.hp2 HG01169.hp1 others(4): Show HG01099.hp1 HG01123.hp2 HG01169.hp1 HG02602.hp1 HG03491.hp2 HG03688.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0114 a0001c0001t0001g0189 a0001c0001t0001g0208 others(4): Show a0001c0001t0001g0114 a0001c0001t0001g0189 a0001c0001t0001g0208 a0001c0002t0004g0125 a0001c0002t0004g0126 a0001c0002t0004g0127 a0001c0002t0004g0132	7	318	0.0220	8	c.335 others(25): Show c.335-7579_335-7572dupCTCTCTCT	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBS12_chr4_122727704_122749939	122733376	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp2 HG02109.hp1 others(5): Show HG00735.hp1 HG01106.hp2 HG02109.hp1 HG02809.hp2 HG03516.hp2 NA18747.hp2 NA18979.hp2 NA18984.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0002 a0003c0003t0003 a0001c0001t0001 a0002c0002t0002 a0003c0003t0003	a0001c0001t0001g0037 a0002c0002t0002g0047 a0002c0002t0002g0101 others(3): Show a0001c0001t0001g0037 a0002c0002t0002g0047 a0002c0002t0002g0101 a0002c0002t0002g0102 a0003c0003t0003g0067 a0003c0003t0003g0068	8	364	0.0220	8	c.-11 others(23): Show c.-11+534_-11+541dupCACACACA	BBS12	ENSG00000181004.10	transcript	ENST00000314218.8	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr4	TogoVar
BBS2_chr16_56479385_56525024	56523702	C C	CTTTTTTT others(1): Show CTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG02135.hp1 others(5): Show HG00423.hp1 HG00558.hp2 HG02135.hp1 HG02717.hp1 HG03654.hp1 HG03688.hp1 HG04199.hp2 NA19084.hp1	a0001 a0004 a0001 a0004	a0001c0007 a0004c0004 a0001c0007 a0004c0004	a0001c0007t0003 a0004c0004t0002 a0004c0004t0005 a0001c0007t0003 a0004c0004t0002 a0004c0004t0005	a0001c0007t0003g0279 a0004c0004t0002g0039 a0004c0004t0002g0040 others(5): Show a0001c0007t0003g0279 a0004c0004t0002g0039 a0004c0004t0002g0040 a0004c0004t0002g0063 a0004c0004t0002g0064 a0004c0004t0002g0066 a0004c0004t0002g0067 a0004c0004t0005g0065	8	398	0.0201	8	c.-38 others(19): Show c.-3848_-3841dupAAAAAAAA	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		3679		chr16	TogoVar
BBS2_chr16_56479385_56525024	56524666	T T	TTTTGTTT others(1): Show TTTTGTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18962.hp1 NA19065.hp1 others(1): Show NA18941.hp2 NA18962.hp1 NA19065.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0004 a0002c0011t0004 a0002c0002t0004 a0002c0011t0004	a0002c0002t0004g0027 a0002c0002t0004g0122 a0002c0011t0004g0121 a0002c0002t0004g0027 a0002c0002t0004g0122 a0002c0011t0004g0121	4	398	0.0101	8	c.-48 others(19): Show c.-4812_-4805dupCAAACAAA	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4643		chr16	TogoVar
BBS4_chr15_72681207_72743473	72689780	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01099.hp2 HG01358.hp2 others(19): Show HG00597.hp2 HG01099.hp2 HG01358.hp2 HG02071.hp1 HG02109.hp1 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02572.hp1 NA18941.hp2 NA18946.hp1 NA18951.hp2 NA18959.hp2 NA18972.hp2 NA18991.hp2 NA19002.hp1 NA19007.hp1 NA19009.hp2 NA19063.hp2 NA19074.hp2 NA19081.hp2 NA19082.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001 a0002c0002t0004 a0007c0009t0001	a0001c0001t0001g0312 a0001c0001t0001g0331 a0001c0001t0001g0332 others(19): Show a0001c0001t0001g0312 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0391 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0310 a0001c0001t0002g0395 a0001c0003t0001g0006 a0001c0003t0001g0009 a0002c0002t0001g0190 a0002c0002t0001g0303 a0002c0002t0004g0243 a0007c0009t0001g0311	22	398	0.0553	8	c.24+ others(23): Show c.24+3569_24+3576dupATTTATTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72713314	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG00741.hp1 others(54): Show HG00408.hp1 HG00642.hp1 HG00741.hp1 HG01099.hp2 HG01168.hp1 HG01261.hp2 HG01496.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp2 HG01981.hp2 HG02071.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG03139.hp1 HG03453.hp1 HG03831.hp1 HG04228.hp2 NA18522.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18947.hp1 NA18951.hp2 NA18957.hp1 NA18959.hp2 NA18965.hp1 NA18968.hp1 NA18970.hp1 NA18978.hp2 NA18981.hp2 NA18983.hp2 NA18991.hp2 NA19000.hp1 NA19002.hp1 NA19010.hp2 NA19011.hp1 NA19057.hp2 NA19063.hp2 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0004t0001 a0002c0002t0001 a0002c0002t0009	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0171 others(54): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0171 a0001c0001t0001g0312 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0001g0360 a0001c0001t0001g0366 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0376 a0001c0001t0001g0382 a0001c0001t0001g0388 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0266 a0001c0001t0002g0271 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0395 a0001c0001t0003g0352 a0001c0001t0010g0268 a0001c0004t0001g0359 a0001c0004t0001g0363 a0001c0004t0001g0365 a0001c0004t0001g0380 a0001c0004t0001g0383 a0002c0002t0001g0156 a0002c0002t0001g0158 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0198 a0002c0002t0001g0204 a0002c0002t0001g0221 a0002c0002t0001g0246 a0002c0002t0001g0257 a0002c0002t0001g0259 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0307 a0002c0002t0001g0355 a0002c0002t0009g0236	57	398	0.1432	8	c.220 others(25): Show c.220+1036_220+1043dupACACACAC	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72713347	A A	ACACACAC others(1): Show ACACACACG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18954.hp1 NA19000.hp2 others(1): Show NA18941.hp1 NA18954.hp1 NA19000.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0202 a0002c0002t0001g0239 a0002c0002t0001g0242 others(1): Show a0002c0002t0001g0202 a0002c0002t0001g0239 a0002c0002t0001g0242 a0002c0002t0001g0245	4	398	0.0101	8	c.220 others(25): Show c.220+1043_220+1044insACACGCAC	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS7_chr4_121819329_121875474	121832009	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00738.hp2 others(32): Show HG00408.hp1 HG00558.hp2 HG00738.hp2 HG02074.hp2 HG02080.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02486.hp2 HG02523.hp1 HG02630.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp2 HG03209.hp2 HG03579.hp2 HG03688.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18997.hp2 NA19003.hp2 NA19005.hp2 NA19059.hp2 NA19064.hp2 NA19083.hp1 NA20300.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0003t0003 a0002c0004t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(27): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0155 a0001c0001t0001g0189 a0001c0001t0003g0028 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0126 a0001c0001t0003g0134 a0001c0001t0005g0107 a0001c0001t0005g0111 a0001c0001t0007g0271 a0001c0001t0007g0272 a0001c0001t0007g0273 a0001c0001t0009g0029 a0001c0001t0009g0132 a0001c0003t0003g0141 a0002c0004t0001g0071	35	374	0.0936	8	c.167 others(27): Show c.1676+1214_1676+1221dupGTGTGTGT	BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding	15/18			chr4	TogoVar
BBS9_chr7_33124564_33611069	33147934	G G	GCCTGGAT others(1): Show GCCTGGATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG00642.hp2 others(37): Show HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp2 HG01074.hp1 HG01168.hp1 HG01358.hp1 HG01517.hp1 HG01884.hp1 HG01981.hp1 HG02132.hp1 HG02165.hp1 HG02293.hp1 HG02523.hp1 HG02602.hp1 HG02683.hp2 HG02738.hp2 HG02976.hp2 HG03017.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG04199.hp1 HG06807.hp1 NA18949.hp2 NA18955.hp1 NA18961.hp2 NA18980.hp2 NA18982.hp1 NA18995.hp2 NA19005.hp2 NA19012.hp2 NA19070.hp2 NA19090.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0025 a0002c0002 others(1): Show a0001c0001 a0001c0025 a0002c0002 a0011c0024	a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0025t0003 a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0014 a0002c0002t0019 a0011c0024t0011	a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0020 others(37): Show a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0027 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0004g0007 a0001c0001t0004g0014 a0001c0001t0013g0041 a0001c0001t0013g0042 a0001c0025t0003g0030 a0002c0002t0003g0003 a0002c0002t0003g0004 a0002c0002t0003g0012 a0002c0002t0003g0018 a0002c0002t0003g0023 a0002c0002t0003g0026 a0002c0002t0003g0028 a0002c0002t0003g0031 a0002c0002t0004g0001 a0002c0002t0004g0002 a0002c0002t0004g0006 a0002c0002t0004g0008 a0002c0002t0004g0011 a0002c0002t0004g0013 a0002c0002t0004g0016 a0002c0002t0004g0019 a0002c0002t0004g0022 a0002c0002t0004g0025 a0002c0002t0004g0032 a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 a0002c0002t0011g0015 a0002c0002t0011g0017 a0002c0002t0014g0005 a0002c0002t0014g0029 a0002c0002t0019g0043 a0011c0024t0011g0024	40	268	0.1493	8	c.112 others(25): Show c.112+1574_112+1575insGATACCTG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33184097	C C	CAGAGAGA others(1): Show CAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02155.hp1 HG02293.hp2 others(6): Show HG01981.hp2 HG02155.hp1 HG02293.hp2 NA18946.hp1 NA18954.hp2 NA18982.hp2 NA19056.hp1 NA19063.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 others(6): Show a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0002g0048 a0001c0001t0005g0067 a0001c0001t0006g0054	9	268	0.0336	8	c.442 others(25): Show c.442+6523_442+6530dupAGAGAGAG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33188080	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02723.hp2 HG02976.hp2 others(1): Show HG01884.hp1 HG02723.hp2 HG02976.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0002c0002t0007 others(1): Show a0001c0001t0003 a0002c0002t0002 a0002c0002t0007 a0002c0002t0019	a0001c0001t0003g0038 a0002c0002t0002g0123 a0002c0002t0007g0166 others(1): Show a0001c0001t0003g0038 a0002c0002t0002g0123 a0002c0002t0007g0166 a0002c0002t0019g0043	4	268	0.0149	8	c.442 others(27): Show c.442+10514_442+10521dupTGTGTGTG	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(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00738.hp2 HG01106.hp1 others(31): Show HG00544.hp2 HG00738.hp2 HG01106.hp1 HG01168.hp2 HG01255.hp2 HG01496.hp1 HG01975.hp2 HG02055.hp1 HG02523.hp2 HG02630.hp1 HG02683.hp1 HG02723.hp1 HG02970.hp1 HG03130.hp1 HG03209.hp1 HG03486.hp2 HG03491.hp1 HG03579.hp1 HG03688.hp2 HG03704.hp2 NA18522.hp2 NA18612.hp2 NA18942.hp1 NA18954.hp1 NA18960.hp1 NA18993.hp1 NA18995.hp1 NA19000.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0013 a0014	a0001c0001 a0001c0010 a0004c0004 others(5): Show a0001c0001 a0001c0010 a0004c0004 a0004c0022 a0005c0011 a0005c0012 a0013c0019 a0014c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0010t0001 a0004c0004t0001 a0004c0022t0001 a0005c0011t0001 a0005c0012t0007 a0005c0012t0015 a0013c0019t0003 a0014c0016t0002	a0001c0001t0001g0080 a0001c0001t0001g0132 a0001c0001t0001g0133 others(31): Show a0001c0001t0001g0080 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0262 a0001c0001t0002g0101 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0164 a0001c0001t0002g0259 a0001c0001t0002g0264 a0001c0001t0006g0107 a0001c0001t0006g0243 a0001c0010t0001g0084 a0004c0004t0001g0187 a0004c0022t0001g0185 a0005c0011t0001g0238 a0005c0012t0007g0235 a0005c0012t0015g0237 a0013c0019t0003g0250 a0014c0016t0002g0268	34	268	0.1269	8	c.101 others(27): Show c.1017-7420_1017-7413dupATTTATTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33329025	A A	ATTTATTT others(1): Show ATTTATTTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG02056.hp1 others(1): Show HG00423.hp1 HG00558.hp2 HG02056.hp1 NA19087.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0157 others(1): Show a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0157 a0003c0003t0001g0146	4	268	0.0149	8	c.101 others(27): Show c.1017-7413_1017-7412insATTTGTTT	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(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03492.hp2 NA19030.hp2 HG02809.hp1 HG03492.hp2 NA19030.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0010 a0004c0004 a0001c0001 a0001c0010 a0004c0004	a0001c0001t0003 a0001c0010t0001 a0004c0004t0001 a0001c0001t0003 a0001c0010t0001 a0004c0004t0001	a0001c0001t0003g0021 a0001c0010t0001g0084 a0004c0004t0001g0186 a0001c0001t0003g0021 a0001c0010t0001g0084 a0004c0004t0001g0186	3	268	0.0112	8	c.178 others(25): Show c.1789+748_1789+755dupACACACAC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33384715	T T	TGAGAGAG others(1): Show TGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG02258.hp2 others(1): Show HG01243.hp1 HG02109.hp2 HG02258.hp2 HG02809.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0007 a0006c0005t0001 a0006c0005t0007	a0006c0005t0001g0140 a0006c0005t0001g0180 a0006c0005t0007g0128 others(1): Show a0006c0005t0001g0140 a0006c0005t0001g0180 a0006c0005t0007g0128 a0006c0005t0007g0139	4	268	0.0149	8	c.196 others(25): Show c.1962+896_1962+903dupGAGAGAGA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33384715	T T	TGTGAGAG others(1): Show TGTGAGAGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01168.hp1 HG01496.hp2 others(2): Show HG01081.hp1 HG01168.hp1 HG01496.hp2 HG01934.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008	a0001c0001t0002g0134 a0001c0001t0003g0038 a0001c0001t0004g0014 others(2): Show a0001c0001t0002g0134 a0001c0001t0003g0038 a0001c0001t0004g0014 a0001c0001t0008g0232 a0001c0001t0008g0233	5	268	0.0187	8	c.196 others(25): Show c.1962+878_1962+879insTGAGAGAG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33386455	C C	CATTTATT others(1): Show CATTTATTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18944.hp1 NA18946.hp1 others(3): Show HG01496.hp2 NA18944.hp1 NA18946.hp1 NA18954.hp2 NA18982.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0001 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0062 others(3): Show a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0008g0233	6	268	0.0224	8	c.196 others(27): Show c.1963-1492_1963-1485dupATTTATTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33492811	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp2 HG02965.hp2 others(1): Show HG00639.hp1 HG01175.hp2 HG02965.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0002g0085 others(1): Show a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0002g0085 a0001c0001t0010g0170	4	268	0.0149	8	c.211 others(29): Show c.2116-12615_2116-12608dupGTGTGTGT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33574684	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02155.hp2 NA18946.hp1 HG01517.hp1 HG02155.hp2 NA18946.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0002c0002t0004 a0001c0001t0001 a0001c0001t0006 a0002c0002t0004	a0001c0001t0001g0099 a0001c0001t0006g0054 a0002c0002t0004g0008 a0001c0001t0001g0099 a0001c0001t0006g0054 a0002c0002t0004g0008	3	268	0.0112	8	c.252 others(29): Show c.2522-30146_2522-30139dupACACACAC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33596299	C C	CACACACA others(1): Show CACACACAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG02615.hp2 others(8): Show HG01891.hp2 HG02572.hp1 HG02615.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03486.hp2 HG03540.hp2 NA18967.hp1 NA19087.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0013 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0013 a0002c0002t0001 a0002c0002t0005 a0004c0004t0001	a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0001g0114 others(8): Show a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0001g0114 a0001c0001t0001g0126 a0001c0001t0001g0158 a0001c0001t0001g0249 a0001c0001t0013g0041 a0002c0002t0001g0189 a0002c0002t0001g0219 a0002c0002t0005g0192 a0004c0004t0001g0184	11	268	0.0410	8	c.252 others(27): Show c.2522-8566_2522-8565insACACACAT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22			chr7	TogoVar

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