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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Select column to sort.

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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
BAX_chr19_48949875_48966798	48959992	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00558.hp2 others(109): Show HG00140.hp2 HG00280.hp2 HG00558.hp2 HG00609.hp2 HG00733.hp2 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01891.hp1 HG01891.hp2 HG01975.hp2 HG01981.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02148.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03831.hp1 HG03831.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18953.hp1 NA18954.hp1 NA18965.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18975.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18986.hp2 NA18987.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19089.hp2 NA19091.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 others(64): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0128 a0001c0001t0001g0151 a0001c0001t0001g0161 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220	112	418	0.2679	10	c.370 others(25): Show c.370-815_370-806dupAAAAAAAAAA	BAX	ENSG00000087088.21	transcript	ENST00000345358.12	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
BAZ1A_chr14_34747731_34880360	34748327	T T	TTGAGACC others(3): Show TTGAGACCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0001 a0001c0002t0003g0001	1	380	0.0026	10	c.51 others(21): Show c.5180_*5181insCCTGGTCTCA	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding		4403		chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34751700	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01071.hp1 others(9): Show HG00639.hp2 HG00735.hp1 HG01071.hp1 HG01074.hp1 HG01192.hp1 HG01361.hp1 HG01934.hp1 HG02148.hp2 HG02273.hp2 HG02486.hp2 NA18982.hp1 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0005 a0001c0002t0002 a0001c0003t0005	a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0138 others(9): Show a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0138 a0001c0003t0005g0050 a0001c0003t0005g0368 a0001c0003t0005g0369 a0001c0003t0005g0370 a0001c0003t0005g0372 a0001c0003t0005g0374 a0001c0003t0005g0375 a0001c0003t0005g0376 a0001c0003t0005g0377	12	380	0.0316	10	c.18 others(21): Show c.1807_*1808insTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding		1030		chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34754426	A A	AAAAAAAA others(3): Show AAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0108 a0001c0002t0002g0108	1	380	0.0026	10	c.447 others(27): Show c.4474+400_4474+401insCTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	26/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34791148	A A	AAAGAGAA others(3): Show AAAGAGAAGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(172): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp2 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0013 a0002c0006 a0005c0008	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(10): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0003t0005 a0001c0003t0012 a0001c0004t0004 a0001c0007t0005 a0001c0013t0004 a0002c0006t0002 a0002c0006t0007 a0005c0008t0003	a0001c0002t0001g0102 a0001c0002t0001g0124 a0001c0002t0001g0125 others(172): Show a0001c0002t0001g0102 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0136 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0003g0001 a0001c0002t0003g0060 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 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0183 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0002t0004g0364 a0001c0002t0004g0365 a0001c0002t0004g0366 a0001c0002t0004g0367 a0001c0002t0008g0137 a0001c0003t0005g0004 a0001c0003t0005g0005 a0001c0003t0005g0006 a0001c0003t0005g0007 a0001c0003t0005g0008 a0001c0003t0005g0009 a0001c0003t0005g0010 a0001c0003t0005g0011 a0001c0003t0005g0012 a0001c0003t0005g0013 a0001c0003t0005g0014 a0001c0003t0005g0015 a0001c0003t0005g0019 a0001c0003t0005g0021 a0001c0003t0005g0022 a0001c0003t0005g0048 a0001c0003t0005g0049 a0001c0003t0005g0050 a0001c0003t0005g0192 a0001c0003t0005g0368 a0001c0003t0005g0369 a0001c0003t0005g0370 a0001c0003t0005g0371 a0001c0003t0005g0372 a0001c0003t0005g0373 a0001c0003t0005g0374 a0001c0003t0005g0375 a0001c0003t0005g0376 a0001c0003t0005g0377 a0001c0003t0005g0378 a0001c0003t0012g0380 a0001c0004t0004g0150 a0001c0007t0005g0135 a0001c0013t0004g0046 a0002c0006t0002g0051 a0002c0006t0002g0052 a0002c0006t0002g0053 a0002c0006t0002g0054 a0002c0006t0002g0055 a0002c0006t0002g0057 a0002c0006t0007g0056 a0005c0008t0003g0178	175	380	0.4605	10	c.151 others(29): Show c.1510+1617_1510+1626dupCTCTTCTCTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	12/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34796165	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp2 HG00735.hp1 others(20): Show HG00558.hp1 HG00639.hp2 HG00735.hp1 HG01070.hp2 HG01074.hp1 HG01192.hp1 HG01361.hp1 HG01928.hp2 HG01934.hp1 HG01981.hp2 HG02027.hp1 HG02132.hp2 HG02148.hp2 HG02257.hp2 HG02273.hp2 HG03225.hp1 HG03471.hp1 HG03942.hp1 HG06807.hp2 NA18906.hp1 NA19043.hp1 NA19085.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 others(2): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0003t0005 a0001c0004t0004	a0001c0002t0002g0061 a0001c0002t0002g0071 a0001c0002t0002g0078 others(20): Show a0001c0002t0002g0061 a0001c0002t0002g0071 a0001c0002t0002g0078 a0001c0002t0002g0092 a0001c0002t0002g0136 a0001c0002t0003g0151 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0008g0137 a0001c0003t0005g0192 a0001c0003t0005g0193 a0001c0003t0005g0195 a0001c0003t0005g0368 a0001c0003t0005g0369 a0001c0003t0005g0370 a0001c0003t0005g0372 a0001c0003t0005g0373 a0001c0003t0005g0374 a0001c0003t0005g0375 a0001c0003t0005g0376 a0001c0003t0005g0377 a0001c0003t0005g0378 a0001c0004t0004g0150	23	380	0.0605	10	c.112 others(27): Show c.1129-410_1129-401dupGTGTGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	9/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34825447	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18972.hp2 NA19080.hp2 others(1): Show HG00738.hp2 NA18972.hp2 NA19080.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0112 a0001c0002t0002g0114 others(1): Show a0001c0002t0002g0094 a0001c0002t0002g0112 a0001c0002t0002g0114 a0001c0002t0002g0130	4	380	0.0105	10	c.536 others(25): Show c.536+556_536+565dupTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	4/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACATATA others(3): Show CACATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02615.hp1 HG00544.hp1 HG02615.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0005 a0002c0006t0002 a0001c0003t0005 a0002c0006t0002	a0001c0003t0005g0004 a0002c0006t0002g0053 a0001c0003t0005g0004 a0002c0006t0002g0053	2	380	0.0053	10	c.393 others(27): Show c.393-6060_393-6059insATATATATGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34836378	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02647.hp1 HG02155.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0299 a0001c0001t0001g0250 a0001c0001t0001g0299	2	380	0.0053	10	c.393 others(29): Show c.393-10232_393-10223dupTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34839839	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0046 a0001c0013t0004g0046	1	380	0.0026	10	c.393 others(29): Show c.393-13693_393-13684dupTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34866502	A A	AAAAAAGA others(3): Show AAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02965.hp1 NA18984.hp2 HG01168.hp2 HG02965.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0300 a0001c0001t0001g0308 a0001c0001t0001g0309	3	380	0.0079	10	c.114 others(27): Show c.114-4181_114-4180insCTTTCTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	2/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34872913	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0195 a0001c0003t0005g0195	1	380	0.0026	10	c.113 others(27): Show c.113+1569_113+1578dupTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	2/26			chr14	TogoVar
BAZ1B_chr7_73435406_73527293	73456937	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	200	0.0050	10	c.343 others(29): Show c.3432+2589_3432+2598dupTTTTTTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	13/19			chr7	TogoVar
BAZ1B_chr7_73435406_73527293	73497065	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0182 a0001c0001t0005g0182	1	200	0.0050	10	c.571 others(27): Show c.571+1422_571+1431dupTTTTTTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	4/19			chr7	TogoVar
BAZ1B_chr7_73435406_73527293	73512028	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	200	0.0050	10	c.108 others(27): Show c.108-1186_108-1177dupTTTTTTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	1/19			chr7	TogoVar
BAZ2A_chr12_56590596_56635326	56597562	G G	GCACACAC others(3): Show GCACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00438.hp1 others(93): Show HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01255.hp1 HG01361.hp1 HG01516.hp2 HG01884.hp2 HG01934.hp1 HG01952.hp2 HG02027.hp1 HG02040.hp1 HG02074.hp2 HG02080.hp1 HG02273.hp2 HG02280.hp1 HG02602.hp2 HG02622.hp2 HG02717.hp2 HG02735.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18953.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp2 NA18990.hp2 NA18993.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19012.hp2 NA19030.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19065.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0001c0011 others(1): Show a0001c0001 a0001c0003 a0001c0011 a0008c0010	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(16): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0036 a0001c0001t0040 a0001c0001t0049 a0001c0001t0076 a0001c0001t0077 a0001c0001t0080 a0001c0003t0023 a0001c0003t0068 a0001c0003t0070 a0001c0011t0008 a0008c0010t0004	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0009 others(74): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0059 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0004g0011 a0001c0001t0004g0015 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0060 a0001c0001t0004g0068 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0079 a0001c0001t0004g0084 a0001c0001t0004g0133 a0001c0001t0004g0136 a0001c0001t0004g0189 a0001c0001t0007g0008 a0001c0001t0007g0037 a0001c0001t0007g0050 a0001c0001t0007g0051 a0001c0001t0007g0065 a0001c0001t0007g0083 a0001c0001t0007g0089 a0001c0001t0008g0016 a0001c0001t0008g0017 a0001c0001t0008g0107 a0001c0001t0008g0160 a0001c0001t0008g0193 a0001c0001t0012g0035 a0001c0001t0012g0039 a0001c0001t0012g0041 a0001c0001t0012g0043 a0001c0001t0012g0187 a0001c0001t0014g0054 a0001c0001t0014g0071 a0001c0001t0014g0072 a0001c0001t0014g0087 a0001c0001t0015g0012 a0001c0001t0015g0076 a0001c0001t0015g0078 a0001c0001t0017g0058 a0001c0001t0017g0064 a0001c0001t0017g0085 a0001c0001t0036g0253 a0001c0001t0036g0260 a0001c0001t0040g0154 a0001c0001t0049g0081 a0001c0001t0076g0245 a0001c0001t0077g0244 a0001c0001t0080g0061 a0001c0003t0023g0021 a0001c0003t0023g0205 a0001c0003t0068g0223 a0001c0003t0070g0225 a0001c0011t0008g0153 a0008c0010t0004g0132	96	316	0.3038	10	c.10 others(21): Show c.1046_*1055dupTGTGTGTGTG	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	1055		chr12	TogoVar
BAZ2A_chr12_56590596_56635326	56597562	G G	GCGCACAC others(3): Show GCGCACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0065	a0001c0002t0065g0214 a0001c0002t0065g0214	1	316	0.0032	10	c.10 others(21): Show c.1055_*1056insTGTGTGTGCG	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	1055		chr12	TogoVar
BAZ2A_chr12_56590596_56635326	56597637	G G	GACACACA others(3): Show GACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG02809.hp1 others(3): Show HG02486.hp1 HG02622.hp1 HG02809.hp1 HG02976.hp2 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0031 a0001c0002t0061 others(1): Show a0001c0002t0030 a0001c0002t0031 a0001c0002t0061 a0001c0002t0062	a0001c0002t0030g0020 a0001c0002t0031g0210 a0001c0002t0031g0211 others(2): Show a0001c0002t0030g0020 a0001c0002t0031g0210 a0001c0002t0031g0211 a0001c0002t0061g0222 a0001c0002t0062g0240	6	316	0.0190	10	c.97 others(19): Show c.971_*980dupGTGTGTGTGT	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	980		chr12	TogoVar
BAZ2B_chr2_159313979_159621548	159317000	C C	CAATAAAA others(3): Show CAATAAAATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	216	0.0046	10	c.32 others(21): Show c.3264_*3265insTTATTTTATT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding		1978		chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159377812	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03710.hp2 NA18968.hp2 HG01192.hp1 HG03710.hp2 NA18968.hp2	a0001 a0003 a0021 a0001 a0003 a0021	a0001c0001 a0003c0013 a0021c0012 a0001c0001 a0003c0013 a0021c0012	a0001c0001t0002 a0003c0013t0006 a0021c0012t0001 a0001c0001t0002 a0003c0013t0006 a0021c0012t0001	a0001c0001t0002g0175 a0003c0013t0006g0058 a0021c0012t0001g0073 a0001c0001t0002g0175 a0003c0013t0006g0058 a0021c0012t0001g0073	3	216	0.0139	10	c.400 others(29): Show c.4006-3069_4006-3060dupTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	25/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159491720	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA20129.hp1 HG02647.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0030 a0002c0002t0001g0011 a0001c0001t0001g0030 a0002c0002t0001g0011	2	216	0.0093	10	c.-2- others(27): Show c.-2-13009_-2-13000dupTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159519210	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	216	0.0046	10	c.-3+ others(27): Show c.-3+36603_-3+36612dupAAAAAAAAAA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159604932	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02109.hp2 HG02300.hp2 others(5): Show HG01934.hp2 HG02109.hp2 HG02300.hp2 NA18963.hp1 NA18984.hp2 NA18999.hp2 NA19082.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0004c0004t0002 a0005c0005t0002	a0001c0001t0002g0204 a0001c0001t0002g0205 a0002c0002t0001g0050 others(5): Show a0001c0001t0002g0204 a0001c0001t0002g0205 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0002g0201 a0002c0002t0002g0206 a0004c0004t0002g0203 a0005c0005t0002g0202	8	216	0.0370	10	c.-46 others(29): Show c.-46+11300_-46+11309dupCACACACACA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
BBC3_chr19_47215824_47236199	47217194	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00544.hp1 others(36): Show HG00099.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00738.hp2 HG01257.hp2 HG01258.hp2 HG01928.hp2 HG02257.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG04184.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp2 NA18964.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18984.hp2 NA18993.hp1 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19055.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0031	a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0058 others(19): Show a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0058 a0001c0001t0001g0213 a0001c0001t0002g0017 a0001c0001t0002g0179 a0001c0001t0002g0194 a0001c0001t0003g0007 a0001c0001t0003g0141 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0004g0057 a0001c0001t0004g0191 a0001c0001t0005g0142 a0001c0001t0006g0228 a0001c0001t0010g0011 a0001c0001t0010g0069 a0001c0001t0014g0036 a0001c0001t0014g0070 a0001c0001t0016g0026 a0001c0001t0019g0061 a0001c0001t0031g0190	39	412	0.0947	10	c.46 others(21): Show c.4607_*4608insAAAAAAAAAA	BBC3	ENSG00000105327.18	transcript	ENST00000439096.3	protein_coding		3629		chr19	TogoVar
BBLN_chr9_128155265_128168924	128155573	G G	GCCCCCCC others(3): Show GCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG02486.hp2 others(2): Show HG01109.hp2 HG02145.hp2 HG02486.hp2 HG03486.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0033 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0043	5	396	0.0126	10	c.-48 others(21): Show c.-4835_-4834insCCCCCCCCCC	BBLN	ENSG00000171159.5	transcript	ENST00000372994.2	protein_coding		4691		chr9	TogoVar
BBOF1_chr14_74014349_74071092	74028467	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0274 a0001c0001t0003g0274	1	386	0.0026	10	c.286 others(25): Show c.286-681_286-672dupCACACACACA	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74035584	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG02723.hp2 others(1): Show HG02145.hp2 HG02257.hp1 HG02723.hp2 NA20129.hp1	a0004 a0006 a0004 a0006	a0004c0007 a0006c0005 a0004c0007 a0006c0005	a0004c0007t0003 a0006c0005t0005 a0004c0007t0003 a0006c0005t0005	a0004c0007t0003g0361 a0006c0005t0005g0369 a0006c0005t0005g0370 others(1): Show a0004c0007t0003g0361 a0006c0005t0005g0369 a0006c0005t0005g0370 a0006c0005t0005g0371	4	386	0.0104	10	c.495 others(27): Show c.495+1432_495+1441dupTTTTTTTTTT	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74059083	T T	TCAAAAAA others(3): Show TCAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0058 a0003c0003t0001g0058	1	386	0.0026	10	c.157 others(29): Show c.1578+1826_1578+1835dupCAAAAAAAAA	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOX1_chr11_27035815_27132809	27038522	T T	TACACACA others(3): Show TACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 NA18950.hp2 HG02717.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0005 a0001c0001t0001 a0001c0003t0005	a0001c0001t0001g0236 a0001c0003t0005g0037 a0001c0001t0001g0236 a0001c0003t0005g0037	2	318	0.0063	10	c.-28 others(21): Show c.-2808_-2807insACACACACAC	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding		2292		chr11	TogoVar
BBOX1_chr11_27035815_27132809	27054205	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19043.hp1 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0070 a0001c0007t0001g0066 a0001c0002t0001g0070 a0001c0007t0001g0066	2	318	0.0063	10	c.-38 others(27): Show c.-38-1167_-38-1158dupTGTGTGTGTG	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBOX1_chr11_27035815_27132809	27054234	T T	TGTGTGTG others(3): Show TGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA19060.hp1 HG01192.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0076 a0001c0001t0003g0246 a0001c0001t0001g0076 a0001c0001t0003g0246	2	318	0.0063	10	c.-38 others(27): Show c.-38-1158_-38-1157insTGTGTGTGCG	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBOX1_chr11_27035815_27132809	27057063	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG02109.hp2 others(7): Show HG00735.hp2 HG01109.hp2 HG02109.hp2 HG02922.hp1 HG02970.hp1 HG03098.hp1 HG03130.hp2 HG03486.hp2 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0003 a0001c0002t0003 a0001c0002t0006 others(2): Show a0001c0001t0003 a0001c0002t0003 a0001c0002t0006 a0001c0003t0005 a0001c0004t0003	a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0259 others(6): Show a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0259 a0001c0002t0003g0017 a0001c0002t0006g0260 a0001c0002t0006g0261 a0001c0002t0006g0268 a0001c0003t0005g0274 a0001c0004t0003g0240	10	318	0.0315	10	c.220 others(25): Show c.220-138_220-137insAAAAAAAAAA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8			chr11	TogoVar
BBOX1_chr11_27035815_27132809	27085555	A A	ATCTCTCT others(3): Show ATCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG03041.hp2 others(3): Show HG01081.hp1 HG01081.hp2 HG03041.hp2 HG03130.hp2 HG03492.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 a0001c0001t0001 a0001c0001t0003 a0001c0002t0004	a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0217 others(3): Show a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0217 a0001c0001t0003g0259 a0001c0002t0004g0120 a0001c0002t0004g0131	6	318	0.0189	10	c.335 others(27): Show c.335-7581_335-7572dupCTCTCTCTCT	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBOX1_chr11_27035815_27132809	27128269	T T	TCCCAGCT others(3): Show TCCCAGCTACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	318	0.0031	10	c.81 others(19): Show c.816_*817insCCCAGCTACC	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding		461		chr11	TogoVar
BBS12_chr4_122727704_122749939	122733376	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02738.hp1 HG03098.hp1 HG01943.hp1 HG02738.hp1 HG03098.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0003 a0002c0002t0002 a0003c0003t0003	a0002c0002t0002g0100 a0003c0003t0003g0065 a0003c0003t0003g0066 a0002c0002t0002g0100 a0003c0003t0003g0065 a0003c0003t0003g0066	3	364	0.0082	10	c.-11 others(25): Show c.-11+532_-11+541dupCACACACACA	BBS12	ENSG00000181004.10	transcript	ENST00000314218.8	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr4	TogoVar
BBS1_chr11_66505635_66538598	66512020	G G	GTGTATAT others(3): Show GTGTATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03831.hp1 HG04204.hp1 HG02056.hp2 HG03831.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0077	3	386	0.0078	10	c.159 others(25): Show c.159+805_159+814dupATATATATGT	BBS1	ENSG00000174483.20	transcript	ENST00000318312.12	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBS1_chr11_66505635_66538598	66532744	C C	CAGCCCAC others(3): Show CAGCCCACAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0216 a0001c0001t0013g0216	1	386	0.0026	10	c.70 others(19): Show c.707_*708insAGCCCACAGG	BBS1	ENSG00000174483.20	transcript	ENST00000318312.12	protein_coding	17/17	708		chr11	TogoVar
BBS1_chr11_66505635_66538598	66537926	C C	CAAATAAA others(3): Show CAAATAAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02132.hp2 HG02165.hp1 others(9): Show HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02280.hp1 HG02738.hp1 HG02738.hp2 HG03130.hp1 HG03492.hp1 NA18960.hp2 NA18966.hp2 NA19057.hp1 NA19079.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0003c0004t0005	a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 others(8): Show a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0002g0001 a0001c0001t0002g0022 a0001c0001t0002g0056 a0001c0001t0002g0217 a0001c0001t0006g0001 a0001c0001t0006g0209 a0001c0001t0006g0221 a0003c0004t0005g0236	12	386	0.0311	10	c.58 others(21): Show c.5889_*5890insAAATAAAATA	BBS1	ENSG00000174483.20	transcript	ENST00000318312.12	protein_coding		4329		chr11	TogoVar
BBS2_chr16_56479385_56525024	56522110	C C	CAGTGAGC others(3): Show CAGTGAGCATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0245 a0002c0002t0001g0245	1	398	0.0025	10	c.-22 others(21): Show c.-2249_-2248insCATGCTCACT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		2087		chr16	TogoVar
BBS2_chr16_56479385_56525024	56523702	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0281 a0001c0001t0003g0281	1	398	0.0025	10	c.-38 others(21): Show c.-3850_-3841dupAAAAAAAAAA	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		3679		chr16	TogoVar
BBS4_chr15_72681207_72743473	72687124	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	398	0.0025	10	c.24+ others(23): Show c.24+874_24+883dupTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72688411	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0144 a0001c0001t0005g0144	1	398	0.0025	10	c.24+ others(25): Show c.24+2171_24+2180dupTTTTTTTTTT	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(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG01123.hp1 others(26): Show HG00280.hp1 HG00280.hp2 HG01123.hp1 HG01167.hp1 HG01261.hp1 HG01515.hp2 HG01517.hp2 HG01978.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02148.hp1 HG02273.hp1 HG02683.hp1 HG02818.hp1 HG02895.hp1 HG03579.hp2 HG03688.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18946.hp1 NA18960.hp2 NA18971.hp1 NA18972.hp2 NA18989.hp2 NA19009.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0009 a0001c0001 a0002c0002 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0007c0009t0001	a0001c0001t0001g0022 a0001c0001t0001g0049 a0001c0001t0001g0331 others(25): Show a0001c0001t0001g0022 a0001c0001t0001g0049 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0362 a0001c0001t0001g0364 a0001c0001t0001g0375 a0001c0001t0002g0003 a0001c0001t0002g0269 a0001c0001t0002g0284 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0328 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0348 a0001c0001t0002g0394 a0001c0001t0003g0356 a0002c0002t0001g0203 a0002c0002t0001g0211 a0002c0002t0001g0235 a0002c0002t0001g0258 a0002c0002t0001g0262 a0002c0002t0001g0298 a0002c0002t0001g0354 a0007c0009t0001g0311	29	398	0.0729	10	c.220 others(27): Show c.220+1034_220+1043dupACACACACAC	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72713353	A A	ACACGCAC others(3): Show ACACGCACACG	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA20752.hp1 HG03491.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0176 a0002c0002t0001g0290 a0001c0001t0002g0176 a0002c0002t0001g0290	2	398	0.0050	10	c.220 others(27): Show c.220+1053_220+1054insACGCACGCAC	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72713355	A A	ACACACAC others(3): Show ACACACACACG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0343 a0001c0001t0002g0343	1	398	0.0025	10	c.220 others(27): Show c.220+1049_220+1050insACACACACGC	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72725057	T T	TATATAGA others(3): Show TATATAGAGAG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0299 a0002c0002t0001g0299	1	398	0.0025	10	c.587 others(25): Show c.587+403_587+404insTATAGAGAGA	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72729263	T T	TGGAGACG others(3): Show TGGAGACGGAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	398	0.0025	10	c.643 others(25): Show c.643-353_643-352insGGAGACGGAG	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	9/15			chr15	TogoVar
BBS7_chr4_121819329_121875474	121832009	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02055.hp1 HG02602.hp2 others(6): Show HG01192.hp1 HG02055.hp1 HG02602.hp2 HG02615.hp1 HG03130.hp2 HG03491.hp1 HG03710.hp2 HG03942.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0067 others(6): Show a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0146 a0001c0001t0001g0178 a0001c0001t0001g0192 a0001c0001t0003g0092 a0001c0001t0005g0110	9	374	0.0241	10	c.167 others(29): Show c.1676+1212_1676+1221dupGTGTGTGTGT	BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding	15/18			chr4	TogoVar
BBS7_chr4_121819329_121875474	121868684	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0210 a0001c0001t0011g0210	1	374	0.0027	10	c.37- others(23): Show c.37-648_37-639dupTTTTTTTTTT	BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding	1/18			chr4	TogoVar
BBS9_chr7_33124564_33611069	33180895	C C	CTCACATA others(3): Show CTCACATACCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01975.hp1 HG01981.hp2 others(30): Show HG00423.hp2 HG01975.hp1 HG01981.hp2 HG02074.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02293.hp2 HG03834.hp2 NA18906.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp2 NA18967.hp1 NA18980.hp1 NA18982.hp2 NA19000.hp2 NA19001.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp1 NA19056.hp1 NA19063.hp2 NA19077.hp2 NA19081.hp2 NA19085.hp1 NA19087.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0020 a0001c0026 others(4): Show a0001c0001 a0001c0020 a0001c0026 a0002c0002 a0002c0017 a0003c0003 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0020t0002 a0001c0026t0001 a0002c0002t0001 a0002c0002t0005 a0002c0017t0001 a0003c0003t0001 a0008c0007t0002	a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 others(30): Show a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0002g0048 a0001c0001t0005g0059 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0016g0071 a0001c0020t0002g0069 a0001c0026t0001g0068 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0005g0192 a0002c0017t0001g0267 a0003c0003t0001g0047 a0003c0003t0001g0060 a0008c0007t0002g0046	33	268	0.1231	10	c.442 others(27): Show c.442+3304_442+3305insTCACATACCT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22			chr7	TogoVar

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