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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
BAIAP3_chr16_1328645_1354439	1341822	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0001 a0001c0032t0001g0001	1	358	0.0028	0	c.732 others(3): Show c.732C>T	p.Phe others(6): Show p.Phe244Phe	BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	9/34	847/4531	732/3459	244/1152		chr16	TogoVar
BAIAP3_chr16_1328645_1354439	1341870	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(215): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0011 a0014 a0015 a0016	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0020 a0001c0021 a0001c0032 a0001c0033 a0001c0037 a0002c0004 a0002c0010 a0003c0006 a0004c0011 a0004c0025 a0005c0012 a0006c0016 a0008c0014 a0010c0035 a0011c0036 a0014c0024 a0015c0022 a0016c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0003t0010 a0001c0003t0016 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0005 a0001c0009t0001 a0001c0020t0001 a0001c0021t0001 a0001c0032t0001 a0001c0033t0003 a0001c0037t0025 a0002c0004t0001 a0002c0004t0002 a0002c0004t0008 a0002c0010t0002 a0003c0006t0009 a0004c0011t0003 a0004c0025t0003 a0005c0012t0010 a0005c0012t0027 a0006c0016t0001 a0008c0014t0001 a0010c0035t0008 a0011c0036t0024 a0014c0024t0001 a0015c0022t0006 a0016c0034t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(116): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0002g0006 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0116 a0001c0001t0003g0043 a0001c0001t0005g0128 a0001c0001t0006g0020 a0001c0001t0012g0001 a0001c0001t0013g0010 a0001c0001t0017g0047 a0001c0001t0020g0001 a0001c0001t0021g0104 a0001c0001t0026g0027 a0001c0001t0028g0001 a0001c0001t0031g0001 a0001c0001t0032g0164 a0001c0001t0033g0057 a0001c0001t0034g0001 a0001c0001t0035g0026 a0001c0001t0036g0027 a0001c0002t0001g0026 a0001c0003t0001g0063 a0001c0003t0003g0014 a0001c0003t0003g0040 a0001c0003t0003g0041 a0001c0003t0003g0055 a0001c0003t0003g0056 a0001c0003t0003g0134 a0001c0003t0003g0151 a0001c0003t0003g0153 a0001c0003t0003g0154 a0001c0003t0010g0159 a0001c0003t0016g0152 a0001c0003t0016g0156 a0001c0005t0001g0028 a0001c0005t0001g0054 a0001c0005t0002g0092 a0001c0005t0003g0023 a0001c0005t0003g0144 a0001c0005t0005g0001 a0001c0005t0005g0038 a0001c0009t0001g0013 a0001c0009t0001g0148 a0001c0020t0001g0135 a0001c0021t0001g0161 a0001c0032t0001g0001 a0001c0033t0003g0040 a0001c0037t0025g0136 a0002c0004t0001g0139 a0002c0004t0002g0006 a0002c0004t0002g0048 a0002c0004t0002g0067 a0002c0004t0002g0076 a0002c0004t0002g0080 a0002c0004t0008g0074 a0002c0010t0002g0090 a0003c0006t0009g0044 a0004c0011t0003g0042 a0004c0011t0003g0166 a0004c0025t0003g0155 a0005c0012t0010g0158 a0005c0012t0027g0157 a0006c0016t0001g0033 a0008c0014t0001g0037 a0010c0035t0008g0075 a0011c0036t0024g0125 a0014c0024t0001g0001 a0015c0022t0006g0122 a0016c0034t0001g0013	218	358	0.6089	0	c.776 others(5): Show c.776+4C>G		BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	9/33					chr16	TogoVar
BAIAP3_chr16_1328645_1354439	1343019	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(119): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03195.hp2 HG03491.hp2 HG03516.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18949.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18969.hp1 NA18970.hp2 NA18978.hp1 NA18980.hp1 NA18982.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp2 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19081.hp2 NA19086.hp1 NA19087.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0012 a0013 a0017	a0001c0001 a0001c0002 a0001c0007 others(11): Show a0001c0001 a0001c0002 a0001c0007 a0001c0013 a0001c0027 a0001c0028 a0001c0029 a0001c0031 a0002c0004 a0002c0010 a0007c0017 a0012c0023 a0013c0026 a0017c0030	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0022 a0001c0002t0023 a0001c0002t0029 a0001c0002t0030 a0001c0007t0001 a0001c0007t0002 a0001c0013t0002 a0001c0027t0002 a0001c0028t0001 a0001c0029t0002 a0001c0031t0001 a0002c0004t0002 a0002c0010t0002 a0007c0017t0002 a0012c0023t0002 a0013c0026t0002 a0017c0030t0002	a0001c0001t0001g0171 a0001c0001t0002g0002 a0001c0001t0002g0011 others(67): Show a0001c0001t0001g0171 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0002t0001g0017 a0001c0002t0001g0036 a0001c0002t0001g0061 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0098 a0001c0002t0001g0115 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0140 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0025 a0001c0002t0002g0030 a0001c0002t0002g0032 a0001c0002t0002g0051 a0001c0002t0002g0058 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0091 a0001c0002t0002g0094 a0001c0002t0002g0096 a0001c0002t0002g0103 a0001c0002t0002g0145 a0001c0002t0002g0150 a0001c0002t0002g0170 a0001c0002t0022g0004 a0001c0002t0023g0084 a0001c0002t0029g0062 a0001c0002t0030g0017 a0001c0007t0001g0002 a0001c0007t0001g0029 a0001c0007t0001g0089 a0001c0007t0002g0004 a0001c0013t0002g0019 a0001c0027t0002g0002 a0001c0028t0001g0165 a0001c0029t0002g0102 a0001c0031t0001g0073 a0002c0004t0002g0031 a0002c0004t0002g0080 a0002c0010t0002g0018 a0002c0010t0002g0093 a0007c0017t0002g0012 a0012c0023t0002g0004 a0013c0026t0002g0002 a0017c0030t0002g0088	122	358	0.3408	0	c.126 others(6): Show c.1265+3G>A		BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	14/33					chr16	TogoVar
BAIAP3_chr16_1328645_1354439	1344598	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	358	0.0028	0	c.166 others(6): Show c.1660-3C>T		BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	18/33					chr16	TogoVar
BAIAP3_chr16_1328645_1354439	1346516	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	358	0.0028	0	c.256 others(6): Show c.2562+6T>C		BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	26/33					chr16	TogoVar
BAIAP3_chr16_1328645_1354439	1346600	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0018 a0001c0015t0018	a0001c0015t0018g0046 a0001c0015t0018g0046	1	358	0.0028	0	c.256 others(6): Show c.2563-5C>T		BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	26/33					chr16	TogoVar
BAIAP3_chr16_1328645_1354439	1346692	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0059 a0001c0015t0001g0059	1	358	0.0028	0	c.264 others(6): Show c.2642+8C>T		BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	27/33					chr16	TogoVar
BAIAP3_chr16_1328645_1354439	1346751	CGGAGGCC others(94): Show CGGAGGCCCTGTGGGAGCTACTCCTCCAGGCCATTCTGCAGGTGGGGCCA GCGGGGCAGGTGGGGCTGGCCCGTGGTCACTGATGCTGCCCTGCAGGGTG CT	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01123.hp1 HG01123.hp1	a0010 a0010	a0010c0035 a0010c0035	a0010c0035t0008 a0010c0035t0008	a0010c0035t0008g0075 a0010c0035t0008g0075	1	358	0.0028	-101	c.264 others(12): Show c.2643-54_2689del	p.Arg others(5): Show p.Arg881fs	BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	28/34		2643/3459	881/1152	INFO_REALIGN_3_PRIME	chr16	TogoVar
BAIAP3_chr16_1328645_1354439	1347697	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp2 HG01069.hp1 HG01071.hp2 others(28): Show HG00733.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02615.hp1 HG02630.hp1 HG02809.hp1 HG02886.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0011	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0015 a0001c0033 a0004c0011 a0004c0025 a0005c0012 a0011c0036	a0001c0001t0021 a0001c0003t0001 a0001c0003t0003 others(10): Show a0001c0001t0021 a0001c0003t0001 a0001c0003t0003 a0001c0003t0010 a0001c0003t0016 a0001c0005t0003 a0001c0015t0018 a0001c0033t0003 a0004c0011t0003 a0004c0025t0003 a0005c0012t0010 a0005c0012t0027 a0011c0036t0024	a0001c0001t0021g0104 a0001c0003t0001g0063 a0001c0003t0003g0014 others(21): Show a0001c0001t0021g0104 a0001c0003t0001g0063 a0001c0003t0003g0014 a0001c0003t0003g0040 a0001c0003t0003g0041 a0001c0003t0003g0055 a0001c0003t0003g0056 a0001c0003t0003g0134 a0001c0003t0003g0151 a0001c0003t0003g0153 a0001c0003t0003g0154 a0001c0003t0010g0159 a0001c0003t0016g0152 a0001c0003t0016g0156 a0001c0005t0003g0023 a0001c0005t0003g0144 a0001c0015t0018g0046 a0001c0033t0003g0040 a0004c0011t0003g0042 a0004c0011t0003g0166 a0004c0025t0003g0155 a0005c0012t0010g0158 a0005c0012t0027g0157 a0011c0036t0024g0125	31	358	0.0866	0	c.290 others(6): Show c.2905-4G>A		BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	30/33					chr16	TogoVar
BAK1_chr6_33567552_33585276	33577528	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	434	0.0023	0	c.70+ others(4): Show c.70+7G>T		BAK1	ENSG00000030110.14	transcript	ENST00000374467.4	protein_coding	2/5					chr6	TogoVar
BAK1_chr6_33567552_33585276	33577639	CG CG	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02040.hp2 HG02523.hp1 NA18971.hp2 others(4): Show HG02040.hp2 HG02523.hp1 NA18971.hp2 NA18977.hp1 NA18984.hp2 NA19084.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0077 a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0077	7	434	0.0161	-1	c.-31 others(6): Show c.-31-5delC		BAK1	ENSG00000030110.14	transcript	ENST00000374467.4	protein_coding	1/5					chr6	TogoVar
BAMBI_chr10_28672521_28687932	28681254	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	436	0.0023	0	c.77- others(4): Show c.77-4T>C		BAMBI	ENSG00000095739.11	transcript	ENST00000375533.6	protein_coding	1/2					chr10	TogoVar
BAMBI_chr10_28672521_28687932	28681544	A A	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02630.hp1 HG02647.hp1 HG02809.hp1 others(2): Show HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0002 a0001c0004t0001g0002	5	436	0.0115	0	c.363 others(3): Show c.363A>C	p.Ser others(6): Show p.Ser121Ser	BAMBI	ENSG00000095739.11	transcript	ENST00000375533.6	protein_coding	2/3	740/1691	363/783	121/260		chr10	TogoVar
BAMBI_chr10_28672521_28687932	28681977	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	436	0.0023	0	c.365 others(5): Show c.365-6C>G		BAMBI	ENSG00000095739.11	transcript	ENST00000375533.6	protein_coding	2/2					chr10	TogoVar
BANF1_chr11_65997503_66009149	66003232	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	374	0.0027	0	c.-16 others(5): Show c.-16-3T>C		BANF1	ENSG00000175334.8	transcript	ENST00000312175.7	protein_coding	1/2					chr11	TogoVar
BANF2_chr20_17694966_17740871	17725019	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(96): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01123.hp2 HG01175.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01934.hp1 HG01978.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02922.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18957.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18983.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18999.hp2 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19012.hp1 NA19056.hp1 NA19058.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp2 NA19076.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19090.hp2 NA19091.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0036 a0001c0001t0001g0179 a0001c0001t0001g0181 others(73): Show a0001c0001t0001g0036 a0001c0001t0001g0179 a0001c0001t0001g0181 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0015 a0002c0002t0001g0018 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0187 a0002c0002t0001g0200 a0002c0002t0001g0206 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0002g0064 a0002c0002t0002g0085 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0098	99	400	0.2475	0	c.-3- others(4): Show c.-3-4G>A		BANF2	ENSG00000125888.15	transcript	ENST00000246090.6	protein_coding	2/3					chr20	TogoVar
BANK1_chr4_101785730_102079812	101917989	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp2 HG02486.hp1 HG02922.hp1 others(4): Show HG02257.hp2 HG02486.hp1 HG02922.hp1 HG02976.hp2 HG03139.hp1 NA18906.hp2 NA19030.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0003 a0006c0007t0001 a0006c0007t0003	a0006c0007t0001g0242 a0006c0007t0001g0244 a0006c0007t0001g0245 others(4): Show a0006c0007t0001g0242 a0006c0007t0001g0244 a0006c0007t0001g0245 a0006c0007t0001g0246 a0006c0007t0001g0247 a0006c0007t0001g0248 a0006c0007t0003g0243	7	284	0.0247	0	c.101 others(6): Show c.1010-4A>G		BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	6/16					chr4	TogoVar
BANK1_chr4_101785730_102079812	102025514	GT GT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp2 HG01070.hp1 HG01071.hp1 others(27): Show HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01192.hp2 HG01243.hp1 HG01891.hp1 HG02055.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03579.hp2 HG04228.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp2 NA21309.hp2	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0011	a0001c0001 a0001c0002 a0001c0012 others(3): Show a0001c0001 a0001c0002 a0001c0012 a0005c0006 a0006c0013 a0011c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0012t0001 a0005c0006t0004 a0006c0013t0004 a0011c0020t0004	a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0059 others(27): Show a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0059 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0003g0016 a0001c0001t0003g0072 a0001c0001t0004g0128 a0001c0002t0001g0112 a0001c0002t0001g0131 a0001c0002t0001g0135 a0001c0002t0001g0161 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0003g0148 a0001c0002t0003g0169 a0001c0002t0003g0215 a0001c0002t0003g0250 a0001c0002t0003g0258 a0001c0002t0004g0129 a0001c0002t0004g0130 a0001c0002t0004g0132 a0001c0002t0004g0134 a0001c0002t0004g0136 a0001c0002t0004g0137 a0001c0012t0001g0017 a0001c0012t0001g0018 a0005c0006t0004g0123 a0006c0013t0004g0143 a0011c0020t0004g0051	30	284	0.1056	-1	c.159 others(7): Show c.1594+8delT		BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	9/16				INFO_REALIGN_3_PRIME	chr4	TogoVar
BANP_chr16_87946434_88082316	87984062	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0178 a0001c0033t0001g0178	1	352	0.0028	0	c.165 others(3): Show c.165A>G	p.Ser others(5): Show p.Ser55Ser	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/14	315/2398	165/1593	55/530		chr16	TogoVar
BANP_chr16_87946434_88082316	88006090	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0005 a0001c0032t0005	a0001c0032t0005g0107 a0001c0032t0005g0107	1	352	0.0028	0	c.480 others(3): Show c.480C>T	p.Asn others(6): Show p.Asn160Asn	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	6/14	630/2398	480/1593	160/530		chr16	TogoVar
BANP_chr16_87946434_88082316	88033111	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00741.hp1 HG01081.hp2 others(53): Show HG00099.hp1 HG00741.hp1 HG01081.hp2 HG01433.hp1 HG01993.hp2 HG02040.hp2 HG02083.hp1 HG02109.hp1 HG02165.hp1 HG02300.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03239.hp1 HG03486.hp2 HG03491.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18939.hp1 NA18941.hp1 NA18960.hp2 NA18975.hp1 NA18988.hp2 NA18998.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19065.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0013 a0002c0015 others(7): Show a0002c0003 a0002c0013 a0002c0015 a0002c0018 a0002c0019 a0002c0021 a0002c0024 a0002c0025 a0002c0028 a0002c0029	a0002c0003t0003 a0002c0003t0009 a0002c0003t0010 others(12): Show a0002c0003t0003 a0002c0003t0009 a0002c0003t0010 a0002c0013t0001 a0002c0015t0002 a0002c0015t0003 a0002c0018t0010 a0002c0018t0016 a0002c0019t0017 a0002c0019t0018 a0002c0021t0003 a0002c0024t0003 a0002c0025t0003 a0002c0028t0015 a0002c0029t0001	a0002c0003t0003g0007 a0002c0003t0003g0050 a0002c0003t0003g0053 others(53): Show a0002c0003t0003g0007 a0002c0003t0003g0050 a0002c0003t0003g0053 a0002c0003t0003g0054 a0002c0003t0003g0278 a0002c0003t0003g0279 a0002c0003t0003g0283 a0002c0003t0003g0284 a0002c0003t0003g0287 a0002c0003t0003g0292 a0002c0003t0003g0293 a0002c0003t0003g0294 a0002c0003t0003g0305 a0002c0003t0003g0306 a0002c0003t0003g0313 a0002c0003t0003g0314 a0002c0003t0003g0315 a0002c0003t0003g0316 a0002c0003t0003g0317 a0002c0003t0003g0318 a0002c0003t0003g0322 a0002c0003t0003g0324 a0002c0003t0003g0325 a0002c0003t0003g0326 a0002c0003t0003g0327 a0002c0003t0003g0328 a0002c0003t0003g0331 a0002c0003t0003g0334 a0002c0003t0003g0335 a0002c0003t0003g0336 a0002c0003t0003g0338 a0002c0003t0003g0343 a0002c0003t0009g0024 a0002c0003t0009g0290 a0002c0003t0009g0291 a0002c0003t0009g0319 a0002c0003t0009g0320 a0002c0003t0009g0323 a0002c0003t0010g0274 a0002c0003t0010g0285 a0002c0003t0010g0332 a0002c0003t0010g0333 a0002c0013t0001g0169 a0002c0013t0001g0170 a0002c0013t0001g0172 a0002c0015t0002g0065 a0002c0015t0003g0321 a0002c0018t0010g0114 a0002c0018t0016g0134 a0002c0019t0017g0086 a0002c0019t0018g0085 a0002c0021t0003g0340 a0002c0024t0003g0171 a0002c0025t0003g0028 a0002c0028t0015g0087 a0002c0029t0001g0173	56	352	0.1591	0	c.106 others(4): Show c.1066C>T	p.Pro others(6): Show p.Pro356Ser	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	9/14	1216/2398	1066/1593	356/530		chr16	TogoVar
BAP1_chr3_52396008_52415008	52402425	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	2	348	0.0058	0	c.205 others(6): Show c.2057-4G>T		BAP1	ENSG00000163930.10	transcript	ENST00000460680.6	protein_coding	16/16					chr3	TogoVar
BAP1_chr3_52396008_52415008	52406253	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02486.hp2 HG02486.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0035 a0005c0007t0001g0035	1	348	0.0029	0	c.783 others(3): Show c.783G>A	p.Gln others(6): Show p.Gln261Gln	BAP1	ENSG00000163930.10	transcript	ENST00000460680.6	protein_coding	9/17	913/3600	783/2190	261/729		chr3	TogoVar
BARX2_chr11_129370848_129457279	129437059	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp1 NA19002.hp2 HG00558.hp1 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0362 a0001c0002t0004g0363 a0001c0002t0002g0362 a0001c0002t0004g0363	2	400	0.0050	0	c.488 others(5): Show c.488+8C>T		BARX2	ENSG00000043039.7	transcript	ENST00000281437.6	protein_coding	2/3					chr11	TogoVar
BARX2_chr11_129370848_129457279	129451131	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp1 HG00558.hp1 HG00609.hp1 others(123): Show HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00735.hp1 HG00741.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01257.hp2 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp1 HG02015.hp1 HG02027.hp2 HG02080.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03654.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18982.hp2 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19062.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19075.hp2 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 others(5): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0014 a0001c0002t0018 a0001c0002t0019 a0001c0002t0021 a0001c0002t0022	a0001c0002t0002g0002 a0001c0002t0002g0005 a0001c0002t0002g0008 others(119): Show a0001c0002t0002g0002 a0001c0002t0002g0005 a0001c0002t0002g0008 a0001c0002t0002g0010 a0001c0002t0002g0027 a0001c0002t0002g0029 a0001c0002t0002g0031 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0072 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0096 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0107 a0001c0002t0002g0112 a0001c0002t0002g0117 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0130 a0001c0002t0002g0133 a0001c0002t0002g0135 a0001c0002t0002g0140 a0001c0002t0002g0161 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0172 a0001c0002t0002g0175 a0001c0002t0002g0179 a0001c0002t0002g0190 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0205 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0233 a0001c0002t0002g0244 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0250 a0001c0002t0002g0255 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0269 a0001c0002t0002g0280 a0001c0002t0002g0284 a0001c0002t0002g0287 a0001c0002t0002g0306 a0001c0002t0002g0310 a0001c0002t0002g0312 a0001c0002t0002g0313 a0001c0002t0002g0315 a0001c0002t0002g0318 a0001c0002t0002g0362 a0001c0002t0002g0368 a0001c0002t0002g0386 a0001c0002t0004g0319 a0001c0002t0004g0321 a0001c0002t0004g0329 a0001c0002t0004g0330 a0001c0002t0004g0336 a0001c0002t0004g0337 a0001c0002t0004g0346 a0001c0002t0004g0348 a0001c0002t0004g0349 a0001c0002t0004g0352 a0001c0002t0004g0354 a0001c0002t0004g0357 a0001c0002t0004g0358 a0001c0002t0004g0359 a0001c0002t0004g0360 a0001c0002t0004g0363 a0001c0002t0004g0364 a0001c0002t0004g0365 a0001c0002t0004g0367 a0001c0002t0004g0369 a0001c0002t0004g0372 a0001c0002t0004g0376 a0001c0002t0004g0377 a0001c0002t0004g0380 a0001c0002t0004g0381 a0001c0002t0004g0385 a0001c0002t0008g0081 a0001c0002t0008g0082 a0001c0002t0008g0145 a0001c0002t0008g0188 a0001c0002t0008g0221 a0001c0002t0008g0234 a0001c0002t0008g0235 a0001c0002t0008g0236 a0001c0002t0008g0267 a0001c0002t0008g0296 a0001c0002t0014g0028 a0001c0002t0014g0361 a0001c0002t0018g0345 a0001c0002t0019g0065 a0001c0002t0021g0216 a0001c0002t0022g0191	126	400	0.3150	0	c.574 others(5): Show c.574-5C>T		BARX2	ENSG00000043039.7	transcript	ENST00000281437.6	protein_coding	3/3					chr11	TogoVar
BATF2_chr11_64982945_65001971	64994548	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19068.hp1 NA19068.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0075 a0006c0008t0001g0075	1	404	0.0025	0	c.41A others(2): Show c.41A>G	p.Asp others(5): Show p.Asp14Gly	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding	2/3	98/2066	41/825	14/274		chr11	TogoVar
BATF3_chr1_212681417_212704840	212697068	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00323.hp1 HG00423.hp1 others(58): Show HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00597.hp1 HG00673.hp1 HG00673.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02129.hp1 HG02155.hp1 HG02293.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp1 HG03540.hp1 HG03831.hp1 HG03927.hp2 HG04228.hp1 HG06807.hp1 NA18940.hp2 NA18944.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 NA19054.hp1 NA19055.hp1 NA19058.hp2 NA19066.hp1 NA19078.hp1 NA19080.hp2 NA19086.hp1 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0003c0004t0001 a0001c0001t0001 a0001c0001t0003 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0017 others(30): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0003g0016 a0003c0004t0001g0070 a0003c0004t0001g0239	61	462	0.1320	0	c.91- others(4): Show c.91-3C>T		BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding	1/2					chr1	TogoVar
BAZ1A_chr14_34747731_34880360	34762227	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0070 a0001c0002t0002g0070	1	380	0.0026	0	c.377 others(6): Show c.3777-4A>G		BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	23/26					chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34801200	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	380	0.0026	0	c.862 others(5): Show c.862-7T>G		BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	7/26					chr14	TogoVar
BAZ1B_chr7_73435406_73527293	73442719	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00280.hp1 HG00438.hp1 others(67): Show HG00099.hp2 HG00280.hp1 HG00438.hp1 HG00597.hp1 HG00733.hp2 HG01081.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp2 HG02293.hp1 HG02486.hp1 HG02559.hp2 HG02647.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02897.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp2 HG03942.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 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 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19070.hp2 NA19081.hp1 NA20129.hp1 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0002c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0003t0006 a0001c0005t0002 a0001c0007t0002 a0002c0006t0002	a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 others(67): Show a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0005g0182 a0001c0001t0005g0196 a0001c0001t0007g0175 a0001c0001t0007g0176 a0001c0001t0010g0044 a0001c0001t0011g0052 a0001c0001t0014g0036 a0001c0001t0015g0179 a0001c0003t0006g0197 a0001c0003t0006g0198 a0001c0003t0006g0199 a0001c0005t0002g0058 a0001c0007t0002g0063 a0002c0006t0002g0028	70	200	0.3500	0	c.409 others(6): Show c.4094+6T>C		BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	18/19					chr7	TogoVar
BAZ2A_chr12_56590596_56635326	56600830	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19056.hp2 NA19058.hp1 NA19080.hp1 NA19056.hp2 NA19058.hp1 NA19080.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0097 a0004c0005t0001g0108 a0004c0005t0001g0167 a0004c0005t0001g0097 a0004c0005t0001g0108 a0004c0005t0001g0167	3	316	0.0095	0	c.445 others(4): Show c.4453C>A	p.Pro others(7): Show p.Pro1485Thr	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	23/29	4657/8938	4453/5712	1485/1903		chr12	TogoVar
BAZ2B_chr2_159313979_159621548	159349703	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01168.hp1 HG01169.hp2 HG01361.hp2 others(9): Show HG01168.hp1 HG01169.hp2 HG01361.hp2 HG02257.hp1 HG02717.hp2 HG02809.hp2 HG03041.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0023 a0002c0002 others(2): Show a0001c0001 a0001c0023 a0002c0002 a0002c0007 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0023t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0023t0002 a0002c0002t0002 a0002c0007t0002 a0003c0003t0001	a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0001g0097 others(9): Show a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0002g0141 a0001c0001t0002g0158 a0001c0023t0002g0147 a0002c0002t0002g0143 a0002c0007t0002g0135 a0003c0003t0001g0031	12	216	0.0556	0	c.486 others(6): Show c.4863+5G>A		BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	28/36					chr2	TogoVar
BBC3_chr19_47215824_47236199	47226759	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	412	0.0024	0	c.275 others(5): Show c.275-5C>G		BBC3	ENSG00000105327.18	transcript	ENST00000439096.3	protein_coding	2/3					chr19	TogoVar
BBOX1_chr11_27035815_27132809	27041202	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02074.hp2 HG02135.hp1 HG02257.hp1 others(9): Show HG02074.hp2 HG02135.hp1 HG02257.hp1 NA18946.hp2 NA18954.hp1 NA18967.hp2 NA18973.hp1 NA18997.hp2 NA19000.hp2 NA19030.hp2 NA19058.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0011 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0001t0011 a0001c0002t0004 a0001c0002t0006 a0001c0004t0001	a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0287 others(8): Show a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0011g0284 a0001c0002t0004g0018 a0001c0002t0004g0286 a0001c0002t0004g0288 a0001c0002t0004g0289 a0001c0002t0006g0291 a0001c0004t0001g0296	12	318	0.0377	-1	c.-30 others(7): Show c.-301-6delA		BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	1/8				INFO_REALIGN_3_PRIME	chr11	TogoVar
BBOX1_chr11_27035815_27132809	27115561	A A	AG AG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG01123.hp2 HG02074.hp2 others(12): Show HG00639.hp1 HG01123.hp2 HG02074.hp2 HG02135.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp1 HG04184.hp1 HG04228.hp1 NA18946.hp2 NA18954.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0018 a0001c0002t0004g0120 a0001c0002t0004g0122 others(11): Show a0001c0002t0004g0018 a0001c0002t0004g0120 a0001c0002t0004g0122 a0001c0002t0004g0123 a0001c0002t0004g0125 a0001c0002t0004g0126 a0001c0002t0004g0127 a0001c0002t0004g0128 a0001c0002t0004g0129 a0001c0002t0004g0131 a0001c0002t0004g0132 a0001c0002t0004g0286 a0001c0002t0004g0288 a0001c0002t0004g0289	15	318	0.0472	1	c.639 others(6): Show c.639+5dupG		BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	6/8				INFO_REALIGN_3_PRIME	chr11	TogoVar
BBS1_chr11_66505635_66538598	66521262	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(111): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00609.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04204.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18977.hp2 NA18978.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19080.hp2 NA19081.hp1 NA19090.hp1 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005 a0005c0010 a0008c0008	a0001c0001t0002 a0001c0001t0017 a0001c0002t0003 others(5): Show a0001c0001t0002 a0001c0001t0017 a0001c0002t0003 a0001c0003t0003 a0002c0005t0003 a0002c0005t0004 a0005c0010t0003 a0008c0008t0003	a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0017g0120 others(84): Show a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0017g0120 a0001c0002t0003g0004 a0001c0002t0003g0010 a0001c0002t0003g0011 a0001c0002t0003g0019 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0003g0085 a0001c0002t0003g0086 a0001c0002t0003g0087 a0001c0002t0003g0088 a0001c0002t0003g0089 a0001c0002t0003g0090 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0003g0096 a0001c0002t0003g0097 a0001c0002t0003g0098 a0001c0002t0003g0099 a0001c0002t0003g0100 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0103 a0001c0002t0003g0104 a0001c0002t0003g0105 a0001c0002t0003g0119 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0248 a0001c0002t0003g0249 a0001c0003t0003g0005 a0001c0003t0003g0013 a0001c0003t0003g0025 a0001c0003t0003g0026 a0001c0003t0003g0057 a0001c0003t0003g0058 a0001c0003t0003g0059 a0001c0003t0003g0060 a0001c0003t0003g0061 a0001c0003t0003g0062 a0001c0003t0003g0063 a0001c0003t0003g0064 a0001c0003t0003g0065 a0001c0003t0003g0066 a0001c0003t0003g0067 a0001c0003t0003g0068 a0001c0003t0003g0069 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0003t0003g0072 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0107 a0001c0003t0003g0108 a0001c0003t0003g0121 a0001c0003t0003g0127 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0003g0199 a0002c0005t0003g0047 a0002c0005t0003g0048 a0002c0005t0004g0024 a0002c0005t0004g0049 a0002c0005t0004g0050 a0002c0005t0004g0051 a0002c0005t0004g0052 a0002c0005t0004g0053 a0005c0010t0003g0106 a0008c0008t0003g0091	114	386	0.2953	0	c.724 others(5): Show c.724-8G>C		BBS1	ENSG00000174483.20	transcript	ENST00000318312.12	protein_coding	8/16					chr11	TogoVar
BBS1_chr11_66505635_66538598	66526649	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18906.hp2 NA18906.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0003 a0005c0010t0003	a0005c0010t0003g0106 a0005c0010t0003g0106	1	386	0.0026	0	c.118 others(4): Show c.1181G>A	p.Gly others(6): Show p.Gly394Asp	BBS1	ENSG00000174483.20	transcript	ENST00000318312.12	protein_coding	13/17	1206/3368	1181/1782	394/593		chr11	TogoVar
BBS2_chr16_56479385_56525024	56498434	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp1 HG02280.hp2 HG02622.hp2 others(11): Show HG02258.hp1 HG02280.hp2 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp2 HG03516.hp2 NA18522.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0003 a0001c0001 a0001c0007 a0003c0003	a0001c0001t0003 a0001c0007t0003 a0003c0003t0003 a0001c0001t0003 a0001c0007t0003 a0003c0003t0003	a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0007t0003g0279 others(9): Show a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0007t0003g0279 a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0272 a0003c0003t0003g0273 a0003c0003t0003g0274 a0003c0003t0003g0275 a0003c0003t0003g0276 a0003c0003t0003g0277 a0003c0003t0003g0278	14	398	0.0352	0	c.165 others(6): Show c.1659+3A>G		BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding	13/16					chr16	TogoVar
BBS4_chr15_72681207_72743473	72686259	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02071.hp2 NA18991.hp2 HG02071.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0394 a0001c0001t0002g0395 a0001c0001t0002g0394 a0001c0001t0002g0395	2	398	0.0050	0	c.24+ others(4): Show c.24+8C>T		BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15					chr15	TogoVar
BBS4_chr15_72681207_72743473	72709694	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(377): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0004 a0001c0007 others(8): Show a0001c0001 a0001c0004 a0001c0007 a0002c0002 a0004c0006 a0005c0011 a0006c0010 a0007c0009 a0008c0012 a0009c0008 a0010c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0004t0001 a0001c0007t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0009 a0004c0006t0001 a0005c0011t0001 a0006c0010t0001 a0007c0009t0001 a0008c0012t0001 a0009c0008t0001 a0010c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 others(374): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0171 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0349 a0001c0001t0001g0358 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0364 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0382 a0001c0001t0001g0384 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0001g0390 a0001c0001t0001g0391 a0001c0001t0001g0392 a0001c0001t0001g0393 a0001c0001t0002g0003 a0001c0001t0002g0153 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0284 a0001c0001t0002g0310 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0394 a0001c0001t0002g0395 a0001c0001t0005g0038 a0001c0001t0005g0144 a0001c0001t0006g0385 a0001c0001t0006g0387 a0001c0001t0007g0021 a0001c0001t0007g0042 a0001c0001t0008g0005 a0001c0001t0010g0268 a0001c0001t0011g0184 a0001c0004t0001g0359 a0001c0004t0001g0363 a0001c0004t0001g0365 a0001c0004t0001g0374 a0001c0004t0001g0380 a0001c0004t0001g0381 a0001c0004t0001g0383 a0001c0004t0001g0386 a0001c0007t0001g0052 a0001c0007t0001g0053 a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0018 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0336 a0002c0002t0001g0339 a0002c0002t0001g0354 a0002c0002t0001g0355 a0002c0002t0004g0155 a0002c0002t0004g0201 a0002c0002t0004g0243 a0002c0002t0004g0255 a0002c0002t0004g0295 a0002c0002t0009g0236 a0004c0006t0001g0196 a0004c0006t0001g0209 a0005c0011t0001g0040 a0006c0010t0001g0089 a0007c0009t0001g0311 a0008c0012t0001g0032 a0009c0008t0001g0289 a0010c0013t0001g0031	380	398	0.9548	0	c.77- others(4): Show c.77-6G>A		BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	2/15					chr15	TogoVar
BBS4_chr15_72681207_72743473	72735139	GAAAATGC others(133): Show GAAAATGCCAAGAGAGCCTACGCAGAAGCAGTCCACCTGGATAAGTATGC ACTTTGTTGAGAATGGTACTGGCGGGGGTTGGACTCTCCAAAGCCATGAG GTGGTGCCATACATAGCATTGGTGCTGCCTGTGTCAGCCCA	G G	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00558.hp2 HG00558.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0032 a0008c0012t0001g0032	1	398	0.0025	-140	c.106 others(12): Show c.1064_1106+97del	p.Glu others(5): Show p.Glu355fs	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	13/16	1085/2467	1064/1560	355/519		chr15	TogoVar
BBS5_chr2_169474494_169511655	169497628	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00639.hp2 HG01106.hp2 HG00639.hp2 HG01106.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0006 a0002c0005t0002g0103 a0002c0005t0002g0006 a0002c0005t0002g0103	2	398	0.0050	0	c.620 others(3): Show c.620G>A	p.Arg others(6): Show p.Arg207His	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	8/12	680/3159	620/1026	207/341		chr2	TogoVar
BBS7_chr4_121819329_121875474	121833402	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0271 a0001c0001t0007g0271	1	374	0.0027	0	c.151 others(6): Show c.1512-7A>T		BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding	14/18					chr4	TogoVar
BBS9_chr7_33124564_33611069	33130048	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00609.hp1 HG00639.hp2 HG00642.hp2 others(35): Show HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp2 HG01074.hp1 HG01168.hp1 HG01358.hp1 HG01517.hp1 HG01981.hp1 HG02132.hp1 HG02165.hp1 HG02293.hp1 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02683.hp2 HG02738.hp2 HG02976.hp2 HG03017.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 homoSapiens_chm13v2.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0025 a0002c0002 others(1): Show a0001c0001 a0001c0025 a0002c0002 a0011c0024	a0001c0001t0003 a0001c0001t0004 a0001c0025t0003 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0025t0003 a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0014 a0011c0024t0011	a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0020 others(35): Show a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0027 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0004g0007 a0001c0001t0004g0014 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 a0011c0024t0011g0024	38	268	0.1418	0	c.-12 others(5): Show c.-12+7T>C		BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	1/22					chr7	TogoVar
BBS9_chr7_33124564_33611069	33177591	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03669.hp1 HG03669.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0001 a0015c0015t0001	a0015c0015t0001g0100 a0015c0015t0001g0100	1	268	0.0037	0	c.442 others(3): Show c.442G>A	p.Gly others(6): Show p.Gly148Ser	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/23	931/3996	442/2664	148/887		chr7	TogoVar
BBS9_chr7_33124564_33611069	33336435	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG01175.hp2 homoSapiens_chm13v2.hp1 HG00639.hp1 HG01175.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0079 a0001c0001t0002g0085 a0001c0001t0004g0007 a0001c0001t0001g0079 a0001c0001t0002g0085 a0001c0001t0004g0007	3	268	0.0112	0	c.101 others(6): Show c.1017-6T>C		BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22					chr7	TogoVar
BBS9_chr7_33124564_33611069	33367761	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp1 HG03491.hp2 HG03492.hp2 others(1): Show HG02615.hp1 HG03491.hp2 HG03492.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0036 others(1): Show a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0036 a0001c0001t0003g0037	4	268	0.0149	0	c.169 others(6): Show c.1694-6T>C		BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	16/22					chr7	TogoVar
BBX_chr3_107517962_107816339	107791303	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp2 HG02965.hp2 HG03195.hp2 HG01081.hp2 HG02965.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0046 a0001c0001t0002 a0001c0001t0046	a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0046g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0046g0213	3	222	0.0135	0	c.235 others(6): Show c.2353+4A>G		BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17					chr3	TogoVar
BCAM_chr19_44804103_44826421	44818889	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0141 a0002c0002t0002g0141	1	410	0.0024	0	c.133 others(6): Show c.1336+7G>C		BCAM	ENSG00000187244.12	transcript	ENST00000270233.12	protein_coding	10/14					chr19	TogoVar
BCAM_chr19_44804103_44826421	44819583	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0001 a0001c0024t0002g0001	1	410	0.0024	0	c.162 others(4): Show c.1620G>A	p.Val others(6): Show p.Val540Val	BCAM	ENSG00000187244.12	transcript	ENST00000270233.12	protein_coding	13/15	1642/2409	1620/1887	540/628		chr19	TogoVar

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