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
B3GAT1_chr11_134373508_134417242	134382707	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0053 a0001c0001t0014g0053	1	352	0.0028	0	c.918 others(5): Show c.918+3G>T		B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	4/5					chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134383012	A A	AG AG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01168.hp2 HG01169.hp1 HG01358.hp1 others(19): Show HG01168.hp2 HG01169.hp1 HG01358.hp1 HG01496.hp2 HG01952.hp1 HG02056.hp1 HG02257.hp2 HG02572.hp2 HG02622.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02897.hp1 HG03195.hp2 HG03209.hp2 HG03540.hp2 HG03710.hp2 HG03831.hp2 NA19240.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 others(10): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0031 a0001c0001t0036 a0001c0001t0039 a0001c0001t0042 a0001c0001t0044 a0001c0001t0054 a0001c0001t0055	a0001c0001t0002g0284 a0001c0001t0010g0004 a0001c0001t0010g0061 others(18): Show a0001c0001t0002g0284 a0001c0001t0010g0004 a0001c0001t0010g0061 a0001c0001t0010g0189 a0001c0001t0010g0232 a0001c0001t0013g0297 a0001c0001t0013g0317 a0001c0001t0013g0318 a0001c0001t0013g0332 a0001c0001t0019g0033 a0001c0001t0019g0049 a0001c0001t0021g0056 a0001c0001t0021g0095 a0001c0001t0022g0258 a0001c0001t0031g0026 a0001c0001t0036g0045 a0001c0001t0039g0221 a0001c0001t0042g0181 a0001c0001t0044g0057 a0001c0001t0054g0285 a0001c0001t0055g0287	22	352	0.0625	1	c.622 others(6): Show c.622-7dupC		B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	3/5					chr11	TogoVar
B3GLCT_chr13_31194975_31337276	31215032	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(240): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0001c0013 a0002c0002 others(8): Show a0001c0001 a0001c0013 a0002c0002 a0002c0003 a0002c0007 a0002c0008 a0002c0010 a0003c0004 a0004c0005 a0006c0012 a0007c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(31): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0013t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0002t0011 a0002c0002t0013 a0002c0002t0016 a0002c0002t0017 a0002c0002t0018 a0002c0002t0019 a0002c0002t0020 a0002c0003t0021 a0002c0007t0023 a0002c0008t0002 a0002c0010t0003 a0003c0004t0004 a0004c0005t0001 a0006c0012t0004 a0007c0009t0002	a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0024 others(238): Show a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0168 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0256 a0001c0001t0004g0032 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0044 a0001c0001t0004g0047 a0001c0001t0004g0053 a0001c0001t0004g0058 a0001c0001t0004g0061 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0161 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0173 a0001c0001t0004g0185 a0001c0001t0004g0215 a0001c0001t0004g0218 a0001c0001t0005g0001 a0001c0001t0005g0045 a0001c0001t0005g0066 a0001c0001t0005g0099 a0001c0001t0005g0104 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0254 a0001c0001t0006g0035 a0001c0001t0006g0042 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0052 a0001c0001t0006g0054 a0001c0001t0006g0056 a0001c0001t0006g0057 a0001c0001t0006g0147 a0001c0001t0006g0169 a0001c0001t0006g0197 a0001c0001t0007g0015 a0001c0001t0007g0016 a0001c0001t0007g0018 a0001c0001t0007g0020 a0001c0001t0007g0021 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0007g0112 a0001c0001t0007g0149 a0001c0001t0010g0003 a0001c0001t0010g0109 a0001c0001t0010g0110 a0001c0001t0010g0114 a0001c0001t0014g0036 a0001c0001t0014g0186 a0001c0001t0015g0105 a0001c0001t0015g0249 a0001c0001t0022g0050 a0001c0001t0024g0123 a0001c0001t0025g0261 a0001c0013t0001g0262 a0002c0002t0001g0252 a0002c0002t0002g0017 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0082 a0002c0002t0002g0087 a0002c0002t0002g0095 a0002c0002t0002g0111 a0002c0002t0002g0116 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0144 a0002c0002t0002g0160 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0170 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0214 a0002c0002t0002g0216 a0002c0002t0002g0221 a0002c0002t0002g0230 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0263 a0002c0002t0002g0266 a0002c0002t0003g0002 a0002c0002t0003g0009 a0002c0002t0003g0012 a0002c0002t0003g0025 a0002c0002t0003g0031 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0067 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0003g0079 a0002c0002t0003g0088 a0002c0002t0003g0094 a0002c0002t0003g0219 a0002c0002t0003g0220 a0002c0002t0003g0229 a0002c0002t0003g0236 a0002c0002t0003g0238 a0002c0002t0003g0240 a0002c0002t0003g0241 a0002c0002t0003g0243 a0002c0002t0003g0244 a0002c0002t0003g0245 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0250 a0002c0002t0003g0255 a0002c0002t0003g0257 a0002c0002t0003g0258 a0002c0002t0003g0259 a0002c0002t0003g0260 a0002c0002t0003g0265 a0002c0002t0004g0011 a0002c0002t0004g0023 a0002c0002t0004g0081 a0002c0002t0006g0141 a0002c0002t0008g0096 a0002c0002t0008g0097 a0002c0002t0008g0125 a0002c0002t0008g0143 a0002c0002t0008g0145 a0002c0002t0009g0013 a0002c0002t0009g0210 a0002c0002t0009g0211 a0002c0002t0009g0212 a0002c0002t0011g0005 a0002c0002t0011g0006 a0002c0002t0011g0007 a0002c0002t0013g0008 a0002c0002t0013g0191 a0002c0002t0016g0142 a0002c0002t0017g0019 a0002c0002t0018g0253 a0002c0002t0019g0251 a0002c0002t0020g0239 a0002c0003t0021g0068 a0002c0007t0023g0004 a0002c0008t0002g0063 a0002c0010t0003g0010 a0003c0004t0004g0205 a0003c0004t0004g0208 a0003c0004t0004g0209 a0004c0005t0001g0072 a0004c0005t0001g0073 a0004c0005t0001g0074 a0006c0012t0004g0059 a0007c0009t0002g0264	243	268	0.9067	-1	c.71- others(5): Show c.71-5delT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	1/14				INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31247015	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0010 a0002c0010t0003g0010	1	268	0.0037	0	c.271 others(5): Show c.271-8T>C		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	4/14					chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31247103	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00558.hp1 others(123): Show HG00099.hp1 HG00099.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01891.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp2 NA18970.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18993.hp1 NA18998.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19086.hp1 NA19087.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0002c0008 others(3): Show a0001c0001 a0002c0002 a0002c0008 a0002c0010 a0004c0005 a0006c0012	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0008t0002 a0002c0010t0003 a0004c0005t0001 a0006c0012t0004	a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0051 others(123): Show a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0168 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0256 a0001c0001t0004g0032 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0044 a0001c0001t0004g0047 a0001c0001t0004g0053 a0001c0001t0004g0058 a0001c0001t0004g0061 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0161 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0185 a0001c0001t0004g0215 a0001c0001t0005g0066 a0001c0001t0005g0099 a0001c0001t0005g0104 a0001c0001t0006g0035 a0001c0001t0006g0042 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0052 a0001c0001t0006g0054 a0001c0001t0006g0056 a0001c0001t0006g0057 a0001c0001t0006g0147 a0001c0001t0006g0158 a0001c0001t0006g0169 a0001c0001t0007g0149 a0001c0001t0010g0003 a0001c0001t0010g0109 a0001c0001t0010g0110 a0001c0001t0010g0114 a0001c0001t0014g0036 a0001c0001t0014g0186 a0001c0001t0015g0105 a0001c0001t0015g0249 a0001c0001t0022g0050 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0082 a0002c0002t0002g0087 a0002c0002t0002g0095 a0002c0002t0002g0111 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0216 a0002c0002t0002g0221 a0002c0002t0002g0230 a0002c0002t0003g0088 a0002c0002t0003g0219 a0002c0002t0003g0220 a0002c0002t0003g0250 a0002c0002t0003g0257 a0002c0002t0008g0060 a0002c0002t0008g0096 a0002c0008t0002g0063 a0002c0010t0003g0010 a0004c0005t0001g0072 a0004c0005t0001g0073 a0004c0005t0001g0074 a0006c0012t0004g0059	126	268	0.4702	0	c.347 others(5): Show c.347+4C>T		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	5/14					chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31247855	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0002c0002 a0002c0007 others(7): Show a0001c0001 a0002c0002 a0002c0007 a0002c0008 a0002c0010 a0002c0011 a0003c0004 a0004c0005 a0006c0012 a0007c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(31): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0016 a0002c0002t0017 a0002c0002t0018 a0002c0002t0019 a0002c0002t0020 a0002c0007t0023 a0002c0008t0002 a0002c0010t0003 a0002c0011t0004 a0003c0004t0004 a0004c0005t0001 a0006c0012t0004 a0007c0009t0002	a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0024 others(252): Show a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0168 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0256 a0001c0001t0004g0032 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0044 a0001c0001t0004g0047 a0001c0001t0004g0053 a0001c0001t0004g0058 a0001c0001t0004g0061 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0161 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0173 a0001c0001t0004g0185 a0001c0001t0004g0215 a0001c0001t0004g0218 a0001c0001t0005g0001 a0001c0001t0005g0045 a0001c0001t0005g0066 a0001c0001t0005g0099 a0001c0001t0005g0104 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0254 a0001c0001t0006g0035 a0001c0001t0006g0042 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0052 a0001c0001t0006g0054 a0001c0001t0006g0056 a0001c0001t0006g0057 a0001c0001t0006g0147 a0001c0001t0006g0158 a0001c0001t0006g0169 a0001c0001t0006g0197 a0001c0001t0007g0015 a0001c0001t0007g0016 a0001c0001t0007g0018 a0001c0001t0007g0020 a0001c0001t0007g0021 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0007g0112 a0001c0001t0007g0149 a0001c0001t0010g0003 a0001c0001t0010g0109 a0001c0001t0010g0110 a0001c0001t0010g0114 a0001c0001t0014g0036 a0001c0001t0014g0186 a0001c0001t0015g0105 a0001c0001t0015g0249 a0001c0001t0022g0050 a0001c0001t0024g0123 a0001c0001t0025g0261 a0002c0002t0001g0252 a0002c0002t0002g0017 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0082 a0002c0002t0002g0087 a0002c0002t0002g0095 a0002c0002t0002g0111 a0002c0002t0002g0116 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0144 a0002c0002t0002g0160 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0170 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0214 a0002c0002t0002g0216 a0002c0002t0002g0221 a0002c0002t0002g0230 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0263 a0002c0002t0002g0266 a0002c0002t0003g0002 a0002c0002t0003g0009 a0002c0002t0003g0012 a0002c0002t0003g0025 a0002c0002t0003g0031 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0067 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0003g0079 a0002c0002t0003g0088 a0002c0002t0003g0094 a0002c0002t0003g0219 a0002c0002t0003g0220 a0002c0002t0003g0229 a0002c0002t0003g0236 a0002c0002t0003g0238 a0002c0002t0003g0240 a0002c0002t0003g0241 a0002c0002t0003g0243 a0002c0002t0003g0244 a0002c0002t0003g0245 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0250 a0002c0002t0003g0255 a0002c0002t0003g0257 a0002c0002t0003g0258 a0002c0002t0003g0259 a0002c0002t0003g0260 a0002c0002t0003g0265 a0002c0002t0004g0011 a0002c0002t0004g0023 a0002c0002t0004g0081 a0002c0002t0004g0172 a0002c0002t0004g0177 a0002c0002t0004g0182 a0002c0002t0004g0183 a0002c0002t0006g0141 a0002c0002t0008g0060 a0002c0002t0008g0083 a0002c0002t0008g0096 a0002c0002t0008g0097 a0002c0002t0008g0125 a0002c0002t0008g0143 a0002c0002t0008g0145 a0002c0002t0009g0013 a0002c0002t0009g0210 a0002c0002t0009g0211 a0002c0002t0009g0212 a0002c0002t0011g0005 a0002c0002t0011g0006 a0002c0002t0011g0007 a0002c0002t0012g0174 a0002c0002t0012g0176 a0002c0002t0013g0008 a0002c0002t0013g0191 a0002c0002t0016g0142 a0002c0002t0017g0019 a0002c0002t0018g0253 a0002c0002t0019g0251 a0002c0002t0020g0239 a0002c0007t0023g0004 a0002c0008t0002g0063 a0002c0010t0003g0010 a0002c0011t0004g0181 a0003c0004t0004g0205 a0003c0004t0004g0208 a0003c0004t0004g0209 a0004c0005t0001g0072 a0004c0005t0001g0073 a0004c0005t0001g0074 a0006c0012t0004g0059 a0007c0009t0002g0264	257	268	0.9590	0	c.348 others(3): Show c.348T>C	p.His others(6): Show p.His116His	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	6/15	458/4215	348/1497	116/498		chr13	TogoVar
B3GNTL1_chr17_82937149_83056770	82957356	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01074.hp1 HG02976.hp2 HG03195.hp2 others(2): Show HG01074.hp1 HG02976.hp2 HG03195.hp2 NA18522.hp1 NA19043.hp2	a0003 a0003	a0003c0021 a0003c0023 a0003c0024 others(2): Show a0003c0021 a0003c0023 a0003c0024 a0003c0025 a0003c0030	a0003c0021t0035 a0003c0023t0011 a0003c0024t0010 others(2): Show a0003c0021t0035 a0003c0023t0011 a0003c0024t0010 a0003c0025t0011 a0003c0030t0011	a0003c0021t0035g0187 a0003c0023t0011g0019 a0003c0024t0010g0151 others(2): Show a0003c0021t0035g0187 a0003c0023t0011g0019 a0003c0024t0010g0151 a0003c0025t0011g0054 a0003c0030t0011g0140	5	266	0.0188	0	c.816 others(5): Show c.816+3G>C		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	9/12					chr17	TogoVar
B4GALNT1_chr12_57618409_57638201	57628910	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0064 a0001c0001t0004g0064	1	406	0.0025	0	c.812 others(5): Show c.812-7A>T		B4GALNT1	ENSG00000135454.14	transcript	ENST00000341156.9	protein_coding	7/10					chr12	TogoVar
B4GALNT1_chr12_57618409_57638201	57631371	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02145.hp1 HG02280.hp2 others(2): Show HG02109.hp1 HG02145.hp1 HG02280.hp2 HG02886.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	5	406	0.0123	0	c.219 others(5): Show c.219-7C>T		B4GALNT1	ENSG00000135454.14	transcript	ENST00000341156.9	protein_coding	2/10					chr12	TogoVar
B4GALNT2_chr17_49127769_49181840	49132804	C C	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0016 a0002c0007t0004g0016	2	380	0.0053	0	c.12C others(2): Show c.12C>A	p.Gly others(4): Show p.Gly4Gly	B4GALNT2	ENSG00000167080.9	transcript	ENST00000393354.7	protein_coding	1/11	36/8657	12/1521	4/506		chr17	TogoVar
B4GALNT2_chr17_49127769_49181840	49142180	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(137): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02683.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA18998.hp2 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0008 a0012 a0013	a0001c0001 a0001c0005 a0001c0011 others(8): Show a0001c0001 a0001c0005 a0001c0011 a0002c0002 a0002c0006 a0003c0003 a0005c0008 a0006c0009 a0008c0013 a0012c0017 a0013c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0022 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0051 a0001c0001t0057 a0001c0005t0008 a0001c0011t0042 a0002c0002t0004 a0002c0002t0005 a0002c0002t0011 a0002c0002t0054 a0002c0006t0021 a0002c0006t0055 a0003c0003t0009 a0005c0008t0014 a0006c0009t0002 a0008c0013t0001 a0012c0017t0035 a0013c0018t0029	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(124): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0245 a0001c0001t0001g0258 a0001c0001t0001g0289 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0322 a0001c0001t0001g0330 a0001c0001t0001g0341 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0031 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0066 a0001c0001t0002g0098 a0001c0001t0002g0140 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0186 a0001c0001t0002g0194 a0001c0001t0002g0210 a0001c0001t0002g0242 a0001c0001t0002g0304 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0006g0180 a0001c0001t0022g0018 a0001c0001t0040g0047 a0001c0001t0041g0188 a0001c0001t0044g0161 a0001c0001t0046g0090 a0001c0001t0047g0085 a0001c0001t0048g0176 a0001c0001t0051g0350 a0001c0001t0057g0162 a0001c0005t0008g0010 a0001c0005t0008g0081 a0001c0011t0042g0132 a0002c0002t0004g0037 a0002c0002t0004g0038 a0002c0002t0004g0101 a0002c0002t0004g0129 a0002c0002t0004g0179 a0002c0002t0004g0217 a0002c0002t0004g0220 a0002c0002t0004g0248 a0002c0002t0004g0307 a0002c0002t0004g0308 a0002c0002t0004g0309 a0002c0002t0004g0314 a0002c0002t0004g0337 a0002c0002t0005g0005 a0002c0002t0005g0116 a0002c0002t0005g0159 a0002c0002t0005g0212 a0002c0002t0005g0249 a0002c0002t0005g0266 a0002c0002t0005g0353 a0002c0002t0011g0154 a0002c0002t0011g0155 a0002c0002t0011g0275 a0002c0002t0054g0102 a0002c0006t0021g0035 a0002c0006t0021g0100 a0002c0006t0055g0273 a0003c0003t0009g0211 a0003c0003t0009g0261 a0003c0003t0009g0349 a0005c0008t0014g0222 a0005c0008t0014g0223 a0006c0009t0002g0235 a0008c0013t0001g0298 a0012c0017t0035g0263 a0013c0018t0029g0204	140	380	0.3684	0	c.353 others(5): Show c.353+8G>A		B4GALNT2	ENSG00000167080.9	transcript	ENST00000393354.7	protein_coding	3/10					chr17	TogoVar
B4GALNT2_chr17_49127769_49181840	49156562	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0130 a0001c0001t0032g0130	1	380	0.0026	0	c.461 others(5): Show c.461-4C>A		B4GALNT2	ENSG00000167080.9	transcript	ENST00000393354.7	protein_coding	4/10					chr17	TogoVar
B4GALNT2_chr17_49127769_49181840	49164280	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01358.hp1 HG01515.hp2 HG01516.hp2 HG01358.hp1 HG01515.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0099 a0001c0001t0006g0146 a0001c0001t0006g0332 a0001c0001t0006g0099 a0001c0001t0006g0146 a0001c0001t0006g0332	3	380	0.0079	0	c.954 others(5): Show c.954+5G>A		B4GALNT2	ENSG00000167080.9	transcript	ENST00000393354.7	protein_coding	8/10					chr17	TogoVar
B4GALNT2_chr17_49127769_49181840	49166260	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00408.hp2 HG00738.hp1 others(85): Show HG00323.hp2 HG00408.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01346.hp1 HG01361.hp2 HG01891.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03017.hp2 HG03130.hp2 HG03453.hp2 HG03490.hp2 HG03492.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18946.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18960.hp1 NA18961.hp2 NA18973.hp1 NA18986.hp2 NA18990.hp1 NA18993.hp1 NA18997.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp2	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0010 a0013	a0001c0001 a0001c0005 a0004c0012 others(3): Show a0001c0001 a0001c0005 a0004c0012 a0006c0009 a0010c0014 a0013c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0032 a0001c0001t0033 a0001c0005t0008 a0004c0012t0007 a0006c0009t0002 a0010c0014t0002 a0013c0018t0029	a0001c0001t0001g0075 a0001c0001t0001g0215 a0001c0001t0002g0002 others(79): Show a0001c0001t0001g0075 a0001c0001t0001g0215 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0031 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0066 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0109 a0001c0001t0002g0121 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0194 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0333 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0347 a0001c0001t0007g0137 a0001c0001t0007g0295 a0001c0001t0007g0319 a0001c0001t0007g0327 a0001c0001t0016g0084 a0001c0001t0016g0252 a0001c0001t0022g0018 a0001c0001t0023g0277 a0001c0001t0024g0017 a0001c0001t0026g0122 a0001c0001t0027g0061 a0001c0001t0032g0130 a0001c0001t0033g0312 a0001c0005t0008g0010 a0001c0005t0008g0081 a0004c0012t0007g0338 a0004c0012t0007g0339 a0006c0009t0002g0134 a0006c0009t0002g0235 a0010c0014t0002g0334 a0013c0018t0029g0204	88	380	0.2316	0	c.109 others(6): Show c.1095+6G>T		B4GALNT2	ENSG00000167080.9	transcript	ENST00000393354.7	protein_coding	9/10					chr17	TogoVar
B4GALNT3_chr12_454939_568509	553981	G G	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0002 a0001c0039t0002	a0001c0039t0002g0319 a0001c0039t0002g0319	1	394	0.0025	0	c.205 others(4): Show c.2058G>C	p.Arg others(6): Show p.Arg686Arg	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	14/20	2496/5493	2058/2997	686/998		chr12	TogoVar
B4GALNT4_chr11_364499_387117	375535	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	184	0.0054	0	c.850 others(5): Show c.850+8C>A		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	9/19					chr11	TogoVar
B4GALNT4_chr11_364499_387117	375780	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0039 a0004c0039	a0004c0039t0001 a0004c0039t0001	a0004c0039t0001g0025 a0004c0039t0001g0025	1	184	0.0054	0	c.985 others(5): Show c.985+7G>A		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	10/19					chr11	TogoVar
B4GALNT4_chr11_364499_387117	376070	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0147 a0002c0002t0001g0147	1	184	0.0054	0	c.109 others(6): Show c.1096-4C>G		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	11/19					chr11	TogoVar
B4GALNT4_chr11_364499_387117	376176	T T	TG TG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03490.hp2 HG03516.hp1 NA18963.hp1 HG03490.hp2 HG03516.hp1 NA18963.hp1	a0002 a0010 a0022 a0002 a0010 a0022	a0002c0004 a0010c0017 a0022c0029 a0002c0004 a0010c0017 a0022c0029	a0002c0004t0002 a0010c0017t0001 a0022c0029t0001 a0002c0004t0002 a0010c0017t0001 a0022c0029t0001	a0002c0004t0002g0129 a0010c0017t0001g0034 a0022c0029t0001g0135 a0002c0004t0002g0129 a0010c0017t0001g0034 a0022c0029t0001g0135	3	184	0.0163	1	c.119 others(7): Show c.1196+5dupG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	12/19				INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	376245	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp1 NA19240.hp2 HG00642.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0021 a0002c0034 a0001c0021 a0002c0034	a0001c0021t0003 a0002c0034t0003 a0001c0021t0003 a0002c0034t0003	a0001c0021t0003g0019 a0002c0034t0003g0017 a0001c0021t0003g0019 a0002c0034t0003g0017	2	184	0.0109	0	c.119 others(6): Show c.1197-6C>T		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	12/19					chr11	TogoVar
B4GALT1_chr9_33105642_33172336	33113769	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0319 a0001c0001t0003g0319	1	366	0.0027	0	c.106 others(6): Show c.1064+5A>T		B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	5/5					chr9	TogoVar
B4GALT3_chr1_161166310_161182507	161176078	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	374	0.0027	0	c.-14 others(5): Show c.-14-4C>T		B4GALT3	ENSG00000158850.15	transcript	ENST00000319769.10	protein_coding	2/7					chr1	TogoVar
B4GALT4_chr3_119206742_119245878	119229848	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0087 a0002c0008t0001g0087	1	436	0.0023	0	c.252 others(3): Show c.252C>T	p.Leu others(5): Show p.Leu84Leu	B4GALT4	ENSG00000121578.13	transcript	ENST00000393765.7	protein_coding	3/8	644/2234	252/1035	84/344		chr3	TogoVar
B4GALT5_chr20_49627945_49718878	49640670	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0061 a0001c0007t0002g0061	1	364	0.0028	0	c.607 others(5): Show c.607-5T>C		B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	5/8					chr20	TogoVar
B4GALT5_chr20_49627945_49718878	49656706	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0061 a0001c0007t0002g0061	1	364	0.0028	0	c.116 others(5): Show c.116-4G>C		B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	1/8					chr20	TogoVar
B4GALT6_chr18_31617246_31689581	31622247	C C	A A	splice_region_variant splice_region_variant	LOW	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0016 a0001c0001t0017g0016	1	306	0.0033	0	c.33 others(5): Show c.3367G>T		B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding	9/9					chr18	TogoVar
BAALC_chr8_103135725_103235305	103141056	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01891.hp1 HG02258.hp1 HG03130.hp1 others(2): Show HG01891.hp1 HG02258.hp1 HG03130.hp1 NA18522.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0004 a0001c0005 a0002c0004	a0001c0005t0023 a0002c0004t0003 a0001c0005t0023 a0002c0004t0003	a0001c0005t0023g0038 a0002c0004t0003g0001 a0001c0005t0023g0038 a0002c0004t0003g0001	5	332	0.0151	0	c.159 others(3): Show c.159G>A	p.Ser others(5): Show p.Ser53Ser	BAALC	ENSG00000164929.17	transcript	ENST00000309982.10	protein_coding	1/3	332/2817	159/438	53/145		chr8	TogoVar
BABAM1_chr19_17262443_17284337	17271654	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01891.hp1 HG02622.hp2 HG03209.hp2 HG01891.hp1 HG02622.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0113 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0113	3	424	0.0071	0	c.343 others(3): Show c.343G>A	p.Gly others(6): Show p.Gly115Ser	BABAM1	ENSG00000105393.16	transcript	ENST00000598188.6	protein_coding	3/9	441/1377	343/990	115/329		chr19	TogoVar
BABAM1_chr19_17262443_17284337	17278839	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00323.hp1 HG00639.hp1 others(28): Show HG00280.hp2 HG00323.hp1 HG00639.hp1 HG00642.hp2 HG01243.hp1 HG01258.hp2 HG01361.hp1 HG01981.hp1 HG02145.hp1 HG02145.hp2 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02735.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03942.hp2 HG04184.hp2 NA18906.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0001t0001 a0001c0002t0001 a0001c0006t0001	a0001c0001t0001g0076 a0001c0002t0001g0008 a0001c0002t0001g0023 others(15): Show a0001c0001t0001g0076 a0001c0002t0001g0008 a0001c0002t0001g0023 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0198 a0001c0006t0001g0209	31	424	0.0731	0	c.787 others(5): Show c.787-6C>T		BABAM1	ENSG00000105393.16	transcript	ENST00000598188.6	protein_coding	8/8					chr19	TogoVar
BABAM2_chr2_27885729_28343901	28237308	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp1 HG03453.hp2 HG02280.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0055 a0001c0001t0001g0022 a0001c0001t0001g0055	2	158	0.0127	0	c.780 others(5): Show c.780+7G>A		BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	8/11					chr2	TogoVar
BACE1_chr11_117280698_117321256	117285699	T T	G G	splice_region_variant splice_region_variant	LOW	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0201 a0001c0001t0015g0202 a0001c0001t0015g0201 a0001c0001t0015g0202	2	400	0.0050	0	c.38 others(5): Show c.3867A>C		BACE1	ENSG00000186318.18	transcript	ENST00000313005.11	protein_coding	9/9					chr11	TogoVar
BACE1_chr11_117280698_117321256	117293049	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(357): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 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 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.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 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0002c0005 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0011 a0001c0002t0013 a0001c0002t0017 a0001c0002t0018 a0001c0002t0020 a0001c0002t0023 a0001c0002t0026 a0001c0002t0027 a0001c0002t0030 a0001c0003t0003 a0001c0004t0001 a0001c0008t0006 a0001c0009t0003 a0002c0005t0001 a0004c0006t0019	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(211): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0002g0090 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0183 a0001c0001t0002g0208 a0001c0001t0005g0004 a0001c0001t0005g0043 a0001c0001t0005g0058 a0001c0001t0005g0165 a0001c0001t0005g0170 a0001c0001t0005g0172 a0001c0001t0005g0182 a0001c0001t0005g0224 a0001c0001t0005g0230 a0001c0001t0008g0056 a0001c0001t0008g0091 a0001c0001t0008g0122 a0001c0001t0008g0147 a0001c0001t0008g0167 a0001c0001t0008g0203 a0001c0001t0012g0035 a0001c0001t0014g0128 a0001c0001t0014g0129 a0001c0001t0015g0201 a0001c0001t0015g0202 a0001c0001t0016g0065 a0001c0001t0021g0161 a0001c0001t0024g0173 a0001c0001t0025g0187 a0001c0001t0028g0184 a0001c0001t0029g0075 a0001c0001t0031g0142 a0001c0001t0032g0242 a0001c0001t0033g0243 a0001c0002t0001g0008 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0028 a0001c0002t0001g0064 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0076 a0001c0002t0001g0096 a0001c0002t0001g0100 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0125 a0001c0002t0001g0148 a0001c0002t0001g0156 a0001c0002t0001g0162 a0001c0002t0001g0179 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0206 a0001c0002t0001g0214 a0001c0002t0001g0220 a0001c0002t0001g0227 a0001c0002t0001g0232 a0001c0002t0003g0006 a0001c0002t0003g0029 a0001c0002t0003g0037 a0001c0002t0003g0040 a0001c0002t0003g0047 a0001c0002t0003g0050 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0092 a0001c0002t0003g0097 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0144 a0001c0002t0003g0146 a0001c0002t0003g0228 a0001c0002t0004g0002 a0001c0002t0004g0022 a0001c0002t0004g0032 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0053 a0001c0002t0004g0070 a0001c0002t0004g0095 a0001c0002t0004g0099 a0001c0002t0004g0107 a0001c0002t0004g0108 a0001c0002t0006g0021 a0001c0002t0006g0034 a0001c0002t0006g0239 a0001c0002t0006g0240 a0001c0002t0007g0014 a0001c0002t0007g0093 a0001c0002t0007g0101 a0001c0002t0007g0102 a0001c0002t0010g0130 a0001c0002t0010g0131 a0001c0002t0010g0145 a0001c0002t0010g0164 a0001c0002t0011g0074 a0001c0002t0011g0151 a0001c0002t0011g0163 a0001c0002t0013g0158 a0001c0002t0013g0159 a0001c0002t0017g0067 a0001c0002t0018g0066 a0001c0002t0020g0098 a0001c0002t0023g0133 a0001c0002t0026g0215 a0001c0002t0027g0149 a0001c0002t0030g0153 a0001c0003t0003g0033 a0001c0003t0003g0237 a0001c0003t0003g0238 a0001c0004t0001g0036 a0001c0004t0001g0069 a0001c0008t0006g0241 a0001c0009t0003g0141 a0002c0005t0001g0143 a0004c0006t0019g0105	360	400	0.9000	0	c.840 others(5): Show c.840+5G>T		BACE1	ENSG00000186318.18	transcript	ENST00000313005.11	protein_coding	5/8					chr11	TogoVar
BACE2_chr21_41163160_41287530	41275363	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp2 HG01169.hp2 HG02723.hp1 others(3): Show HG01167.hp2 HG01169.hp2 HG02723.hp1 HG03098.hp2 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0017 a0001c0001t0028 a0001c0001t0014 a0001c0001t0017 a0001c0001t0028	a0001c0001t0014g0003 a0001c0001t0014g0177 a0001c0001t0014g0250 others(3): Show a0001c0001t0014g0003 a0001c0001t0014g0177 a0001c0001t0014g0250 a0001c0001t0017g0146 a0001c0001t0017g0270 a0001c0001t0028g0079	6	272	0.0221	0	c.130 others(6): Show c.1304-8C>T		BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	8/8					chr21	TogoVar
BACH2_chr6_89921528_90301843	90206685	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp2 HG03453.hp2 NA19043.hp1 HG02647.hp2 HG03453.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0074 a0001c0003t0036 a0001c0004t0037 a0001c0002t0074 a0001c0003t0036 a0001c0004t0037	a0001c0002t0074g0057 a0001c0003t0036g0068 a0001c0004t0037g0067 a0001c0002t0074g0057 a0001c0003t0036g0068 a0001c0004t0037g0067	3	194	0.0155	0	c.-27 others(6): Show c.-274-4A>C		BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	3/8					chr6	TogoVar
BAD_chr11_64264830_64289665	64284381	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp1 HG01109.hp1 HG02486.hp2 others(3): Show HG01106.hp1 HG01109.hp1 HG02486.hp2 HG02970.hp2 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0347 a0001c0001t0001g0348 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349	6	388	0.0155	0	c.-8- others(4): Show c.-8-5C>T		BAD	ENSG00000002330.14	transcript	ENST00000309032.8	protein_coding	1/3					chr11	TogoVar
BAG1_chr9_33247471_33269708	33255935	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	348	0.0029	0	c.886 others(5): Show c.886-8T>A		BAG1	ENSG00000107262.26	transcript	ENST00000634734.3	protein_coding	5/6					chr9	TogoVar
BAG3_chr10_119646380_119682819	119677817	A A	G G	splice_region_variant splice_region_variant	LOW	HG00140.hp2 HG00323.hp2 HG00438.hp2 others(51): Show HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00621.hp2 HG00639.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01256.hp2 HG01261.hp2 HG01517.hp1 HG01891.hp1 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02083.hp1 HG02109.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02630.hp2 HG03209.hp1 HG03239.hp1 HG03486.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18940.hp1 NA18954.hp2 NA18986.hp2 NA18992.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19066.hp1 NA19075.hp1 NA19082.hp2 NA19087.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0012	a0001c0001 a0001c0009 a0005c0006 others(2): Show a0001c0001 a0001c0009 a0005c0006 a0008c0020 a0012c0012	a0001c0001t0004 a0001c0009t0004 a0005c0006t0004 others(3): Show a0001c0001t0004 a0001c0009t0004 a0005c0006t0004 a0005c0006t0009 a0008c0020t0004 a0012c0012t0004	a0001c0001t0004g0012 a0001c0001t0004g0016 a0001c0001t0004g0017 others(41): Show a0001c0001t0004g0012 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0042 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0154 a0001c0001t0004g0157 a0001c0001t0004g0213 a0001c0001t0004g0234 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0282 a0001c0001t0004g0292 a0001c0009t0004g0220 a0005c0006t0004g0126 a0005c0006t0009g0022 a0008c0020t0004g0125 a0012c0012t0004g0121	54	420	0.1286	0	c.53 others(4): Show c.535A>G		BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	4/4					chr10	TogoVar
BAG5_chr14_103551551_103567657	103562610	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	410	0.0024	0	c.-29 others(5): Show c.-29+6C>T		BAG5	ENSG00000166170.12	transcript	ENST00000299204.6	protein_coding	1/1					chr14	TogoVar
BAG6_chr6_31634028_31657661	31641420	G G	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0210 a0001c0014t0001g0210	1	427	0.0023	0	c.256 others(4): Show c.2562C>G	p.Ser others(6): Show p.Ser854Ser	BAG6	ENSG00000204463.14	transcript	ENST00000676615.2	protein_coding	19/26	2813/3843	2562/3489	854/1162		chr6	TogoVar
BAHCC1_chr17_81390457_81471331	81445184	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03139.hp2 HG03139.hp2	a0016 a0016	a0016c0030 a0016c0030	a0016c0030t0007 a0016c0030t0007	a0016c0030t0007g0032 a0016c0030t0007g0032	1	332	0.0030	0	c.283 others(6): Show c.2835+6G>A		BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	9/27					chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81451957	G G	GC GC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00408.hp1 HG00544.hp1 others(78): Show HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00639.hp2 HG00673.hp1 HG01070.hp1 HG01109.hp1 HG01123.hp1 HG01175.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02080.hp1 HG02109.hp1 HG02132.hp1 HG02155.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02895.hp2 HG02976.hp2 HG03098.hp1 HG03516.hp1 HG03540.hp2 HG04115.hp1 HG04184.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18942.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19043.hp2 NA19060.hp2 NA19080.hp2 NA19083.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0009 others(14): Show a0001 a0002 a0009 a0010 a0014 a0017 a0021 a0029 a0031 a0032 a0034 a0036 a0037 a0046 a0047 a0048 a0050	a0001c0003 a0001c0007 a0001c0009 others(31): Show a0001c0003 a0001c0007 a0001c0009 a0001c0010 a0001c0012 a0001c0019 a0001c0021 a0001c0025 a0001c0026 a0001c0032 a0001c0068 a0001c0069 a0001c0086 a0001c0092 a0001c0093 a0001c0101 a0001c0103 a0002c0001 a0009c0087 a0010c0031 a0010c0102 a0014c0022 a0017c0023 a0021c0079 a0029c0070 a0031c0091 a0032c0071 a0034c0033 a0036c0061 a0037c0060 a0046c0047 a0047c0046 a0048c0045 a0050c0043	a0001c0003t0003 a0001c0003t0010 a0001c0007t0015 others(40): Show a0001c0003t0003 a0001c0003t0010 a0001c0007t0015 a0001c0007t0016 a0001c0007t0033 a0001c0009t0004 a0001c0009t0006 a0001c0009t0025 a0001c0010t0001 a0001c0010t0004 a0001c0010t0009 a0001c0012t0002 a0001c0019t0003 a0001c0021t0002 a0001c0025t0003 a0001c0026t0003 a0001c0032t0003 a0001c0068t0008 a0001c0069t0007 a0001c0086t0003 a0001c0092t0004 a0001c0093t0001 a0001c0101t0010 a0001c0103t0026 a0002c0001t0001 a0009c0087t0002 a0010c0031t0004 a0010c0102t0004 a0014c0022t0011 a0014c0022t0036 a0017c0023t0015 a0017c0023t0038 a0021c0079t0003 a0029c0070t0003 a0031c0091t0001 a0032c0071t0003 a0034c0033t0001 a0036c0061t0003 a0037c0060t0032 a0046c0047t0027 a0047c0046t0004 a0048c0045t0001 a0050c0043t0004	a0001c0003t0003g0044 a0001c0003t0003g0046 a0001c0003t0003g0047 others(78): Show a0001c0003t0003g0044 a0001c0003t0003g0046 a0001c0003t0003g0047 a0001c0003t0003g0048 a0001c0003t0003g0050 a0001c0003t0003g0053 a0001c0003t0003g0059 a0001c0003t0003g0067 a0001c0003t0003g0068 a0001c0003t0003g0083 a0001c0003t0003g0110 a0001c0003t0003g0184 a0001c0003t0003g0186 a0001c0003t0003g0208 a0001c0003t0003g0230 a0001c0003t0003g0231 a0001c0003t0003g0233 a0001c0003t0003g0258 a0001c0003t0003g0286 a0001c0003t0003g0290 a0001c0003t0003g0293 a0001c0003t0003g0300 a0001c0003t0003g0302 a0001c0003t0003g0304 a0001c0003t0003g0314 a0001c0003t0010g0211 a0001c0007t0015g0275 a0001c0007t0016g0161 a0001c0007t0016g0234 a0001c0007t0033g0135 a0001c0009t0004g0117 a0001c0009t0006g0134 a0001c0009t0025g0252 a0001c0010t0001g0034 a0001c0010t0001g0082 a0001c0010t0001g0255 a0001c0010t0004g0121 a0001c0010t0004g0296 a0001c0010t0009g0185 a0001c0012t0002g0058 a0001c0012t0002g0112 a0001c0012t0002g0133 a0001c0012t0002g0137 a0001c0012t0002g0159 a0001c0019t0003g0200 a0001c0019t0003g0294 a0001c0019t0003g0315 a0001c0021t0002g0262 a0001c0025t0003g0065 a0001c0025t0003g0212 a0001c0026t0003g0246 a0001c0026t0003g0247 a0001c0032t0003g0232 a0001c0068t0008g0070 a0001c0069t0007g0253 a0001c0086t0003g0031 a0001c0092t0004g0227 a0001c0093t0001g0145 a0001c0101t0010g0020 a0001c0103t0026g0245 a0002c0001t0001g0033 a0009c0087t0002g0089 a0010c0031t0004g0015 a0010c0031t0004g0018 a0010c0102t0004g0017 a0014c0022t0011g0322 a0014c0022t0011g0323 a0014c0022t0036g0318 a0017c0023t0015g0277 a0017c0023t0038g0027 a0021c0079t0003g0192 a0029c0070t0003g0116 a0031c0091t0001g0042 a0032c0071t0003g0006 a0034c0033t0001g0178 a0036c0061t0003g0189 a0037c0060t0032g0125 a0046c0047t0027g0264 a0047c0046t0004g0273 a0048c0045t0001g0254 a0050c0043t0004g0060	81	332	0.2440	1	c.418 others(7): Show c.4180-6dupC		BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	12/27				INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81455263	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(89): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03579.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18906.hp1 NA18942.hp1 NA18944.hp1 NA18948.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18980.hp2 NA18984.hp1 NA18990.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19080.hp1 NA19085.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp2	a0001 a0003 a0004 others(10): Show a0001 a0003 a0004 a0018 a0023 a0024 a0025 a0026 a0027 a0045 a0052 a0053 a0055	a0001c0085 a0003c0002 a0003c0018 others(16): Show a0001c0085 a0003c0002 a0003c0018 a0003c0064 a0004c0004 a0004c0011 a0004c0035 a0004c0037 a0018c0039 a0018c0106 a0023c0084 a0024c0082 a0025c0107 a0026c0083 a0027c0088 a0045c0080 a0052c0038 a0053c0040 a0055c0034	a0001c0085t0001 a0003c0002t0001 a0003c0002t0004 others(26): Show a0001c0085t0001 a0003c0002t0001 a0003c0002t0004 a0003c0002t0013 a0003c0002t0028 a0003c0002t0035 a0003c0018t0001 a0003c0018t0002 a0003c0064t0005 a0004c0004t0002 a0004c0004t0014 a0004c0004t0022 a0004c0004t0029 a0004c0011t0002 a0004c0011t0004 a0004c0011t0023 a0004c0035t0002 a0004c0037t0014 a0018c0039t0011 a0018c0106t0010 a0023c0084t0003 a0024c0082t0001 a0025c0107t0002 a0026c0083t0001 a0027c0088t0004 a0045c0080t0004 a0052c0038t0002 a0053c0040t0002 a0055c0034t0002	a0001c0085t0001g0073 a0003c0002t0001g0002 a0003c0002t0001g0039 others(87): Show a0001c0085t0001g0073 a0003c0002t0001g0002 a0003c0002t0001g0039 a0003c0002t0001g0049 a0003c0002t0001g0056 a0003c0002t0001g0057 a0003c0002t0001g0062 a0003c0002t0001g0075 a0003c0002t0001g0095 a0003c0002t0001g0096 a0003c0002t0001g0097 a0003c0002t0001g0098 a0003c0002t0001g0100 a0003c0002t0001g0101 a0003c0002t0001g0103 a0003c0002t0001g0104 a0003c0002t0001g0105 a0003c0002t0001g0106 a0003c0002t0001g0107 a0003c0002t0001g0111 a0003c0002t0001g0124 a0003c0002t0001g0183 a0003c0002t0001g0209 a0003c0002t0001g0213 a0003c0002t0004g0115 a0003c0002t0004g0122 a0003c0002t0004g0123 a0003c0002t0004g0170 a0003c0002t0004g0171 a0003c0002t0004g0172 a0003c0002t0004g0182 a0003c0002t0004g0194 a0003c0002t0004g0205 a0003c0002t0004g0229 a0003c0002t0004g0280 a0003c0002t0004g0295 a0003c0002t0004g0310 a0003c0002t0013g0024 a0003c0002t0013g0168 a0003c0002t0013g0173 a0003c0002t0028g0299 a0003c0002t0035g0197 a0003c0018t0001g0307 a0003c0018t0002g0143 a0003c0018t0002g0210 a0003c0064t0005g0198 a0004c0004t0002g0003 a0004c0004t0002g0010 a0004c0004t0002g0061 a0004c0004t0002g0092 a0004c0004t0002g0093 a0004c0004t0002g0127 a0004c0004t0002g0138 a0004c0004t0002g0149 a0004c0004t0002g0156 a0004c0004t0002g0158 a0004c0004t0002g0167 a0004c0004t0002g0214 a0004c0004t0002g0217 a0004c0004t0002g0218 a0004c0004t0002g0219 a0004c0004t0002g0221 a0004c0004t0002g0222 a0004c0004t0002g0240 a0004c0004t0002g0241 a0004c0004t0002g0266 a0004c0004t0002g0269 a0004c0004t0002g0271 a0004c0004t0002g0272 a0004c0004t0014g0190 a0004c0004t0022g0139 a0004c0004t0029g0220 a0004c0011t0002g0023 a0004c0011t0002g0120 a0004c0011t0002g0162 a0004c0011t0004g0071 a0004c0011t0023g0041 a0004c0035t0002g0215 a0004c0037t0014g0256 a0018c0039t0011g0270 a0018c0106t0010g0328 a0023c0084t0003g0129 a0024c0082t0001g0236 a0025c0107t0002g0250 a0026c0083t0001g0099 a0027c0088t0004g0165 a0045c0080t0004g0128 a0052c0038t0002g0144 a0053c0040t0002g0268 a0055c0034t0002g0216	92	332	0.2771	0	c.444 others(6): Show c.4446-4C>T		BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	14/27					chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81458614	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01123.hp1 HG01255.hp2 HG01346.hp2 others(7): Show HG01123.hp1 HG01255.hp2 HG01346.hp2 HG02451.hp2 HG02647.hp2 HG02723.hp1 HG03098.hp1 HG04115.hp1 HG04184.hp2 NA20129.hp1	a0001 a0014 a0001 a0014	a0001c0009 a0001c0012 a0001c0021 others(1): Show a0001c0009 a0001c0012 a0001c0021 a0014c0022	a0001c0009t0004 a0001c0012t0002 a0001c0021t0002 others(2): Show a0001c0009t0004 a0001c0012t0002 a0001c0021t0002 a0014c0022t0011 a0014c0022t0036	a0001c0009t0004g0117 a0001c0012t0002g0058 a0001c0012t0002g0112 others(7): Show a0001c0009t0004g0117 a0001c0012t0002g0058 a0001c0012t0002g0112 a0001c0012t0002g0133 a0001c0012t0002g0137 a0001c0012t0002g0159 a0001c0021t0002g0262 a0014c0022t0011g0322 a0014c0022t0011g0323 a0014c0022t0036g0318	10	332	0.0301	0	c.534 others(6): Show c.5344-7C>T		BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	18/27					chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81460859	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0016 a0001c0007t0016	a0001c0007t0016g0161 a0001c0007t0016g0161	1	332	0.0030	0	c.620 others(6): Show c.6203-7C>G		BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	25/27					chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81462054	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp1 HG03471.hp1 HG02055.hp1 HG03471.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0030 a0001c0009t0037 a0001c0009t0030 a0001c0009t0037	a0001c0009t0030g0263 a0001c0009t0037g0319 a0001c0009t0030g0263 a0001c0009t0037g0319	2	332	0.0060	0	c.738 others(6): Show c.7383+8C>T		BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	26/27					chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98315619	A A	AAATAAT AAATAAT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(65): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00735.hp2 HG01069.hp2 HG01074.hp2 HG01099.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01256.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01952.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp2 HG02148.hp2 HG02165.hp1 HG02273.hp2 HG02572.hp2 HG02602.hp1 HG02723.hp2 HG02818.hp1 HG02896.hp2 HG03139.hp1 HG03195.hp2 HG03490.hp2 HG03492.hp2 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18941.hp1 NA18943.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18960.hp2 NA18963.hp2 NA18970.hp1 NA18982.hp2 NA18985.hp1 NA18998.hp1 NA19009.hp2 NA19043.hp1 NA19056.hp1 NA19064.hp1 NA19068.hp1 NA19070.hp2 NA19081.hp1 NA19085.hp2 NA19087.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0003 a0001c0004 a0001c0007 others(3): Show a0001c0003 a0001c0004 a0001c0007 a0003c0010 a0004c0016 a0008c0015	a0001c0003t0003 a0001c0003t0008 a0001c0003t0011 others(9): Show a0001c0003t0003 a0001c0003t0008 a0001c0003t0011 a0001c0003t0019 a0001c0003t0020 a0001c0004t0003 a0001c0004t0010 a0001c0004t0018 a0001c0007t0003 a0003c0010t0003 a0004c0016t0003 a0008c0015t0003	a0001c0003t0003g0230 a0001c0003t0003g0237 a0001c0003t0003g0239 others(64): Show a0001c0003t0003g0230 a0001c0003t0003g0237 a0001c0003t0003g0239 a0001c0003t0003g0242 a0001c0003t0003g0244 a0001c0003t0003g0246 a0001c0003t0003g0247 a0001c0003t0003g0254 a0001c0003t0003g0255 a0001c0003t0003g0256 a0001c0003t0003g0257 a0001c0003t0003g0259 a0001c0003t0003g0260 a0001c0003t0003g0261 a0001c0003t0003g0262 a0001c0003t0003g0264 a0001c0003t0003g0266 a0001c0003t0003g0272 a0001c0003t0003g0276 a0001c0003t0003g0277 a0001c0003t0003g0279 a0001c0003t0003g0280 a0001c0003t0003g0281 a0001c0003t0003g0282 a0001c0003t0003g0283 a0001c0003t0003g0284 a0001c0003t0003g0287 a0001c0003t0003g0288 a0001c0003t0003g0289 a0001c0003t0003g0291 a0001c0003t0003g0292 a0001c0003t0003g0294 a0001c0003t0008g0122 a0001c0003t0008g0123 a0001c0003t0008g0124 a0001c0003t0011g0235 a0001c0003t0011g0253 a0001c0003t0019g0243 a0001c0003t0020g0297 a0001c0004t0003g0232 a0001c0004t0003g0238 a0001c0004t0003g0240 a0001c0004t0003g0241 a0001c0004t0003g0249 a0001c0004t0003g0250 a0001c0004t0003g0251 a0001c0004t0003g0258 a0001c0004t0003g0263 a0001c0004t0003g0265 a0001c0004t0003g0267 a0001c0004t0003g0268 a0001c0004t0003g0269 a0001c0004t0003g0270 a0001c0004t0003g0271 a0001c0004t0003g0273 a0001c0004t0003g0274 a0001c0004t0003g0275 a0001c0004t0003g0286 a0001c0004t0003g0293 a0001c0004t0010g0001 a0001c0004t0018g0236 a0001c0007t0003g0248 a0001c0007t0003g0252 a0003c0010t0003g0295 a0003c0010t0003g0296 a0004c0016t0003g0245 a0008c0015t0003g0278	68	298	0.2282	6	c.487 others(17): Show c.487-8_487-7insATTATT		BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	6/13					chr7	TogoVar
BAIAP2_chr17_81030151_81122434	81053660	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	376	0.0027	0	c.55- others(4): Show c.55-8T>A		BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	1/13					chr17	TogoVar
BAIAP3_chr16_1328645_1354439	1333749	G G	A A	splice_region_variant splice_region_variant	LOW	HG01109.hp2 HG01891.hp2 HG02257.hp1 others(4): Show HG01109.hp2 HG01891.hp2 HG02257.hp1 HG02738.hp2 HG03492.hp2 NA20905.hp1 NA21309.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0005 a0001c0037 others(1): Show a0001c0001 a0001c0005 a0001c0037 a0011c0036	a0001c0001t0005 a0001c0005t0005 a0001c0037t0025 others(1): Show a0001c0001t0005 a0001c0005t0005 a0001c0037t0025 a0011c0036t0024	a0001c0001t0005g0128 a0001c0005t0005g0001 a0001c0005t0005g0038 others(2): Show a0001c0001t0005g0128 a0001c0005t0005g0001 a0001c0005t0005g0038 a0001c0037t0025g0136 a0011c0036t0024g0125	7	358	0.0196	0	c.-11 others(3): Show c.-11G>A		BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	1/34					chr16	TogoVar
BAIAP3_chr16_1328645_1354439	1339492	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	358	0.0028	0	c.301 others(5): Show c.301-4G>T		BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	4/33					chr16	TogoVar
BAIAP3_chr16_1328645_1354439	1341131	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00733.hp2 HG01099.hp2 HG02055.hp1 others(20): Show HG00733.hp2 HG01099.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02615.hp1 HG02630.hp1 HG02886.hp1 HG02970.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp2 NA18906.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0003 a0001c0033 a0004c0011 others(1): Show a0001c0003 a0001c0033 a0004c0011 a0005c0012	a0001c0003t0001 a0001c0003t0003 a0001c0003t0010 others(5): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0010 a0001c0003t0016 a0001c0033t0003 a0004c0011t0003 a0005c0012t0010 a0005c0012t0027	a0001c0003t0001g0063 a0001c0003t0003g0014 a0001c0003t0003g0040 others(15): Show a0001c0003t0001g0063 a0001c0003t0003g0014 a0001c0003t0003g0040 a0001c0003t0003g0041 a0001c0003t0003g0055 a0001c0003t0003g0056 a0001c0003t0003g0134 a0001c0003t0003g0151 a0001c0003t0003g0153 a0001c0003t0003g0154 a0001c0003t0010g0159 a0001c0003t0016g0152 a0001c0003t0016g0156 a0001c0033t0003g0040 a0004c0011t0003g0042 a0004c0011t0003g0166 a0005c0012t0010g0158 a0005c0012t0027g0157	23	358	0.0643	0	c.471 others(3): Show c.471C>T	p.Ala others(6): Show p.Ala157Ala	BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	7/34	586/4531	471/3459	157/1152		chr16	TogoVar

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