JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BBS9_chr7_33124564_33611069	33326216	T T	TACTCTTT others(14): Show TACTCTTTTCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	268	0.0037	21	c.101 others(42): Show c.1017-10224_1017-10204dupACTCTTTTCCCTCCCCTCCCC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107797335	C C	CTATATAT others(14): Show CTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp2 HG01516.hp1 HG01516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0041 a0002c0002t0050 a0001c0001t0041 a0002c0002t0050	a0001c0001t0041g0070 a0002c0002t0050g0011 a0001c0001t0041g0070 a0002c0002t0050g0011	2	222	0.0090	21	c.235 others(40): Show c.2354-1188_2354-1187insTATATATATATATATATATAT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17			chr3	TogoVar
BCAR1_chr16_75223181_75256624	75256319	C C	CCCTGCTC others(14): Show CCCTGCTCTCGAGGGTGGAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(266): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0019 a0021 a0023 a0024	a0001c0001 a0001c0003 a0001c0033 others(27): Show a0001c0001 a0001c0003 a0001c0033 a0001c0035 a0001c0043 a0002c0002 a0002c0004 a0002c0005 a0002c0012 a0002c0015 a0002c0020 a0002c0028 a0002c0029 a0003c0007 a0003c0025 a0004c0009 a0006c0011 a0007c0014 a0009c0017 a0011c0023 a0012c0026 a0013c0027 a0014c0024 a0015c0042 a0016c0041 a0017c0040 a0019c0031 a0021c0034 a0023c0036 a0024c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0003t0001 a0001c0033t0004 a0001c0035t0001 a0001c0043t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0013 a0002c0002t0015 a0002c0002t0018 a0002c0002t0019 a0002c0002t0021 a0002c0004t0001 a0002c0005t0001 a0002c0005t0010 a0002c0005t0011 a0002c0005t0012 a0002c0012t0001 a0002c0015t0006 a0002c0015t0027 a0002c0020t0001 a0002c0028t0001 a0002c0029t0002 a0003c0007t0001 a0003c0007t0010 a0003c0025t0002 a0004c0009t0001 a0006c0011t0006 a0007c0014t0001 a0009c0017t0001 a0009c0017t0002 a0011c0023t0001 a0012c0026t0001 a0013c0027t0011 a0014c0024t0001 a0015c0042t0002 a0016c0041t0002 a0017c0040t0002 a0019c0031t0002 a0021c0034t0002 a0023c0036t0002 a0024c0032t0002	a0001c0001t0001g0150 a0001c0001t0001g0177 a0001c0001t0001g0208 others(192): Show a0001c0001t0001g0150 a0001c0001t0001g0177 a0001c0001t0001g0208 a0001c0001t0001g0268 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0171 a0001c0001t0002g0176 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0004g0014 a0001c0001t0004g0018 a0001c0001t0004g0129 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0149 a0001c0001t0004g0160 a0001c0001t0004g0162 a0001c0001t0004g0172 a0001c0001t0004g0174 a0001c0001t0004g0180 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0007g0036 a0001c0001t0007g0182 a0001c0001t0007g0188 a0001c0001t0008g0135 a0001c0001t0008g0151 a0001c0001t0008g0170 a0001c0001t0016g0032 a0001c0001t0017g0126 a0001c0001t0017g0128 a0001c0001t0023g0144 a0001c0001t0024g0190 a0001c0001t0025g0156 a0001c0003t0001g0123 a0001c0033t0004g0154 a0001c0035t0001g0157 a0001c0043t0002g0143 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0016 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0042 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0216 a0002c0002t0001g0218 a0002c0002t0001g0220 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0248 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0236 a0002c0002t0013g0022 a0002c0002t0015g0052 a0002c0002t0015g0055 a0002c0002t0018g0045 a0002c0002t0019g0058 a0002c0002t0021g0053 a0002c0004t0001g0008 a0002c0004t0001g0049 a0002c0004t0001g0217 a0002c0004t0001g0219 a0002c0004t0001g0221 a0002c0004t0001g0222 a0002c0004t0001g0225 a0002c0004t0001g0226 a0002c0004t0001g0227 a0002c0004t0001g0239 a0002c0004t0001g0246 a0002c0004t0001g0247 a0002c0004t0001g0251 a0002c0004t0001g0260 a0002c0004t0001g0261 a0002c0004t0001g0262 a0002c0004t0001g0263 a0002c0004t0001g0264 a0002c0005t0001g0038 a0002c0005t0001g0193 a0002c0005t0001g0196 a0002c0005t0001g0198 a0002c0005t0001g0199 a0002c0005t0001g0201 a0002c0005t0001g0202 a0002c0005t0001g0203 a0002c0005t0001g0204 a0002c0005t0001g0207 a0002c0005t0001g0244 a0002c0005t0001g0249 a0002c0005t0010g0194 a0002c0005t0010g0195 a0002c0005t0011g0197 a0002c0005t0012g0043 a0002c0012t0001g0111 a0002c0012t0001g0113 a0002c0012t0001g0114 a0002c0015t0006g0284 a0002c0015t0027g0285 a0002c0020t0001g0044 a0002c0028t0001g0112 a0002c0029t0002g0245 a0003c0007t0001g0039 a0003c0007t0001g0040 a0003c0007t0001g0041 a0003c0007t0001g0209 a0003c0007t0001g0210 a0003c0007t0001g0215 a0003c0007t0010g0205 a0003c0025t0002g0206 a0004c0009t0001g0007 a0004c0009t0001g0017 a0006c0011t0006g0009 a0007c0014t0001g0037 a0009c0017t0001g0153 a0009c0017t0002g0192 a0011c0023t0001g0240 a0012c0026t0001g0046 a0013c0027t0011g0200 a0014c0024t0001g0250 a0015c0042t0002g0169 a0016c0041t0002g0147 a0017c0040t0002g0175 a0019c0031t0002g0179 a0021c0034t0002g0130 a0023c0036t0002g0167 a0024c0032t0002g0187	269	392	0.6862	21	c.-48 others(32): Show c.-4838_-4837insCACTCCACCCTCGAGAGCAGG	BCAR1	ENSG00000050820.17	transcript	ENST00000162330.10	protein_coding		4696		chr16	TogoVar
BCAS3_chr17_60672851_61397831	61044465	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0051 a0002c0005t0001g0051	1	74	0.0135	21	c.202 others(40): Show c.2029+3574_2029+3575insAAAAAAAAAAAAATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61044465	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0007 a0003c0001t0001g0007	1	74	0.0135	21	c.202 others(40): Show c.2029+3574_2029+3575insAAAAATATATATATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61059063	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0002 a0003c0001t0002	a0003c0001t0002g0032 a0003c0001t0002g0032	1	74	0.0135	21	c.203 others(42): Show c.2030-15840_2030-15820dupTTTTTTTTTTTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS4_chr20_50790061_50882177	50818292	T T	TGCCTGGA others(14): Show TGCCTGGAAGGCGTGGGTTTAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG00642.hp1 others(82): Show HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01167.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02273.hp1 HG02293.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG03831.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18994.hp1 NA19030.hp1 NA19043.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0003t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0008t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004	a0001c0001t0001g0075 a0001c0001t0001g0173 a0001c0001t0001g0175 others(82): Show a0001c0001t0001g0075 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0212 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0086 a0001c0001t0002g0174 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0244 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0257 a0001c0001t0002g0261 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0003g0002 a0001c0001t0003g0065 a0001c0001t0003g0203 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0219 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0227 a0001c0001t0003g0236 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0254 a0001c0001t0004g0040 a0001c0001t0004g0190 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0235 a0001c0001t0005g0200 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0214 a0001c0001t0005g0221 a0001c0001t0005g0250 a0001c0001t0005g0255 a0001c0001t0008g0258 a0001c0001t0009g0026 a0001c0003t0001g0208 a0001c0004t0002g0009 a0001c0004t0003g0008 a0001c0004t0004g0007 a0001c0008t0001g0006 a0002c0002t0001g0063 a0002c0002t0001g0067 a0002c0002t0002g0051 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0068 a0002c0002t0002g0070 a0002c0002t0003g0066 a0002c0002t0004g0260	85	270	0.3148	21	c.162 others(34): Show c.162+14_162+34dupTGGAAGGCGTGGGTTTAGGCC	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
BCAT1_chr12_24805024_24954101	24887061	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0206 a0001c0001t0063g0206	1	322	0.0031	21	c.280 others(38): Show c.280-5651_280-5650insTTTTTTTTTTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0171 a0001c0001t0064g0171	1	322	0.0031	21	c.280 others(38): Show c.280-5670_280-5669insATTTTTTTTTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	322	0.0031	21	c.280 others(38): Show c.280-5670_280-5669insATATATATTTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	322	0.0031	21	c.280 others(38): Show c.280-5670_280-5669insATATATATATTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCKDHA_chr19_41392818_41430002	41412380	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp1 HG00642.hp2 others(38): Show HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01258.hp2 HG01433.hp2 HG01516.hp2 HG02040.hp1 HG02572.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02922.hp2 HG03098.hp2 HG03453.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp2 HG04115.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18955.hp2 NA18965.hp2 NA18971.hp2 NA18972.hp2 NA18989.hp2 NA18993.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19082.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0005 a0001c0001 a0001c0007 a0003c0005	a0001c0001t0001 a0001c0007t0001 a0003c0005t0001 a0001c0001t0001 a0001c0007t0001 a0003c0005t0001	a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0030 others(28): Show a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0155 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0007t0001g0237 a0003c0005t0001g0243	41	374	0.1096	21	c.375 others(38): Show c.375+1389_375+1390insTTTTTTTTTTTTTTTTTTTTT	BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
BCL11A_chr2_60452194_60558654	60467138	T T	TTGGTGGT others(14): Show TTGGTGGTGATGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp1 HG00099.hp2 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0062 a0001c0002t0001g0040 a0001c0002t0001g0062	2	262	0.0076	21	c.487 others(38): Show c.487+1573_487+1593dupCCACCACCACCATCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467461	G G	GGTGATGG others(14): Show GGTGATGGTGGTGGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG00741.hp1 others(21): Show HG00140.hp1 HG00738.hp1 HG00741.hp1 HG01257.hp1 HG01361.hp2 HG01515.hp1 HG01884.hp2 HG02083.hp2 HG02109.hp1 HG02451.hp1 HG02615.hp1 HG02683.hp2 HG02698.hp1 HG02976.hp1 HG03195.hp1 HG03239.hp2 HG03688.hp1 HG03831.hp1 HG04184.hp2 HG06807.hp2 NA18990.hp2 NA18992.hp1 NA19006.hp2 NA20752.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0008 others(1): Show a0001c0001 a0001c0002 a0003c0008 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0049 a0001c0001t0061 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0014 a0001c0002t0016 a0003c0008t0003 a0004c0005t0002	a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0028 others(21): Show a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0002g0141 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0003g0183 a0001c0001t0003g0187 a0001c0001t0004g0074 a0001c0001t0006g0242 a0001c0001t0009g0197 a0001c0001t0049g0165 a0001c0001t0061g0212 a0001c0002t0001g0024 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0002g0133 a0001c0002t0004g0075 a0001c0002t0008g0115 a0001c0002t0014g0007 a0001c0002t0014g0008 a0001c0002t0016g0255 a0003c0008t0003g0154 a0004c0005t0002g0100	24	262	0.0916	21	c.487 others(38): Show c.487+1270_487+1271insTACCACCACCACCACCATCAC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11B_chr14_99164287_99277197	99271305	T T	TGCCGCCG others(14): Show TGCCGCCGCTGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02602.hp2 HG02683.hp1 HG03710.hp2 HG02602.hp2 HG02683.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0076 a0001c0001t0087 a0001c0001t0075 a0001c0001t0076 a0001c0001t0087	a0001c0001t0075g0288 a0001c0001t0076g0289 a0001c0001t0087g0343 a0001c0001t0075g0288 a0001c0001t0076g0289 a0001c0001t0087g0343	3	350	0.0086	21	c.-10 others(29): Show c.-108_-88dupGGCGGCGGCGGCAGCGGCGGC	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	1/4	88		chr14	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	458	0.0022	21	c.-43 others(32): Show c.-4377_-4376insAAAAAAAAATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0111 a0002c0002t0005g0111	1	458	0.0022	21	c.-43 others(32): Show c.-4377_-4376insAAAAAAAAAAAAATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03486.hp2 HG01891.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0112 a0002c0002t0001g0033 a0002c0002t0001g0112	2	458	0.0044	21	c.-43 others(32): Show c.-4377_-4376insAAAAAAAAAAAAAAATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATTT others(14): Show ATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0050 a0002c0002t0005g0050	1	458	0.0022	21	c.-43 others(32): Show c.-4377_-4376insAAAAAAAAAAAAAAAAATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L11_chr2_111115914_111173444	111120979	T T	TGCCGCCG others(14): Show TGCCGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0020 a0001c0001t0041g0020	1	398	0.0025	21	c.-20 others(30): Show c.-201_-181dupGCCGCCGCCGCCGCCGCCGCC	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding	1/4	2724	INFO_REALIGN_3_PRIME	chr2	TogoVar
BCL2L11_chr2_111115914_111173444	111170699	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG04115.hp1 NA18948.hp2 others(1): Show HG02965.hp1 HG04115.hp1 NA18948.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0264 a0001c0001t0002g0271 others(1): Show a0001c0001t0002g0220 a0001c0001t0002g0264 a0001c0001t0002g0271 a0001c0001t0002g0286	4	398	0.0101	21	c.64 others(32): Show c.6468_*6469insAAAAAAAAAAAAAAAAAAAAA	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding		2256		chr2	TogoVar
BCL2L13_chr22_17633757_17735855	17715170	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0052	a0001c0002t0052g0285 a0001c0002t0052g0285	1	306	0.0033	21	c.601 others(40): Show c.601-11506_601-11505insATATATATATATATATATTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L1_chr20_31659458_31727868	31697893	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	186	0.0054	21	c.564 others(40): Show c.564+23761_564+23762insCAAACAAACAAAAAAAAAAAA	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL7B_chr7_73531356_73562690	73561529	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0016	1	284	0.0035	21	c.-39 others(32): Show c.-3952_-3951insATTATTATTATTATTATTATT	BCL7B	ENSG00000106635.8	transcript	ENST00000223368.7	protein_coding		3840		chr7	TogoVar
BCL9_chr1_147536501_147631216	147564988	T T	TGAGTACA others(14): Show TGAGTACAATAGCTACAATATG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0106 a0001c0001t0004g0106	1	316	0.0032	21	c.-47 others(42): Show c.-478+23315_-478+23316insAGTACAATAGCTACAATATGG	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
BDH1_chr3_197504783_197560968	197510599	G G	GGGGGTGT others(14): Show GGGGGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0180 a0001c0001t0180	a0001c0001t0180g0237 a0001c0001t0180g0237	1	319	0.0031	21	c.12 others(32): Show c.1295_*1296insACACACACACACACACACCCC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1295		chr3	TogoVar
BDH1_chr3_197504783_197560968	197510684	G G	GTGTGTGT others(14): Show GTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0264 a0001c0001t0112g0264	1	319	0.0031	21	c.12 others(32): Show c.1210_*1211insACACACACACACACACACACA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1210		chr3	TogoVar
BDH2_chr4_103072592_103104834	103078760	A A	AATTATTA others(14): Show AATTATTATTATTATTATTATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0019 a0004c0007t0019	a0004c0007t0019g0101 a0004c0007t0019g0101	1	382	0.0026	21	c.94 others(30): Show c.941_*942insAATAATAATAATAATAATAAT	BDH2	ENSG00000164039.15	transcript	ENST00000296424.9	protein_coding	10/10	941		chr4	TogoVar
BEND5_chr1_48722519_48781891	48746420	T T	TCTTCAAG others(14): Show TCTTCAAGGTTCACGACGGTCC	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18943.hp2 NA18945.hp1 others(3): Show HG02132.hp2 NA18943.hp2 NA18945.hp1 NA18962.hp1 NA18985.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0103 a0001c0001t0001g0127 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0103 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0168	6	342	0.0175	21	c.746 others(38): Show c.746-3650_746-3649insGGACCGTCGTGAACCTTGAAG	BEND5	ENSG00000162373.13	transcript	ENST00000371833.4	protein_coding	3/5			chr1	TogoVar
BEST3_chr12_69648609_69704303	69680310	C C	CTTCTTTT others(14): Show CTTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02135.hp1 HG03490.hp1 others(4): Show HG01361.hp1 HG02135.hp1 HG03490.hp1 HG04115.hp1 HG04115.hp2 NA18949.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0267 others(4): Show a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0267 a0001c0001t0002g0301 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307	7	366	0.0191	21	c.482 others(38): Show c.482-1418_482-1417insAAAAAAAAAAAAAAAAAAGAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BET1L_chr11_197924_212399	207359	C C	CGGCCACA others(14): Show CGGCCACAGCCGCCTCAGACGT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(258): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(27): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0004t0032	a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0015 others(35): Show a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0040 a0001c0001t0003g0002 a0001c0001t0003g0032 a0001c0001t0003g0039 a0001c0001t0005g0007 a0001c0001t0005g0008 a0001c0001t0006g0005 a0001c0001t0007g0006 a0001c0001t0008g0010 a0001c0001t0009g0014 a0001c0001t0009g0049 a0001c0001t0011g0016 a0001c0001t0012g0020 a0001c0001t0012g0048 a0001c0001t0013g0017 a0001c0001t0015g0022 a0001c0001t0016g0019 a0001c0001t0017g0021 a0001c0001t0024g0030 a0001c0001t0025g0046 a0001c0001t0026g0043 a0001c0001t0027g0050 a0001c0001t0028g0051 a0001c0001t0029g0042 a0001c0001t0030g0031 a0001c0001t0031g0044 a0001c0001t0033g0045 a0001c0001t0034g0033 a0001c0001t0035g0034 a0001c0001t0036g0035 a0001c0001t0037g0036 a0001c0001t0038g0037 a0001c0001t0039g0038 a0001c0001t0040g0047 a0001c0004t0032g0041	261	402	0.6493	21	c.-59 others(28): Show c.-59_-39dupACGTCTGAGGCGGCTGTGGCC	BET1L	ENSG00000177951.18	transcript	ENST00000382762.8	protein_coding	1/4	39		chr11	TogoVar
BET1L_chr11_197924_212399	207370	G G	GCCTCAGA others(14): Show GCCTCAGACGTGGCCACAGCCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0060 a0001c0001t0046g0060	1	402	0.0025	21	c.-50 others(28): Show c.-50_-49insTGGCTGTGGCCACGTCTGAGG	BET1L	ENSG00000177951.18	transcript	ENST00000382762.8	protein_coding	1/4	50		chr11	TogoVar
BFSP2_chr3_133395056_133480208	133422765	C C	CTGCCAGA others(14): Show CTGCCAGAATATAGCCCGGTGT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	276	0.0036	21	c.489 others(40): Show c.489+22209_489+22210insGGTGTTGCCAGAATATAGCCC	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BICD1_chr12_32101847_32388633	32142453	C C	CCTATCTA others(14): Show CCTATCTATCTATCCTATCTAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01934.hp1 HG02486.hp1 others(7): Show HG01106.hp2 HG01934.hp1 HG02486.hp1 HG02602.hp2 HG04184.hp1 HG04204.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0036 a0001c0002t0002 a0001c0002t0040 a0001c0003t0013	a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0003g0187 others(7): Show a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0003g0187 a0001c0001t0004g0032 a0001c0001t0004g0114 a0001c0001t0011g0259 a0001c0001t0036g0090 a0001c0002t0002g0195 a0001c0002t0040g0091 a0001c0003t0013g0189	10	290	0.0345	21	c.213 others(40): Show c.213+34922_213+34923insCTATCTATCTATCTATCTATC	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32182278	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19030.hp2 HG01884.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0019 a0001c0001t0010g0018 a0001c0001t0004g0019 a0001c0001t0010g0018	2	290	0.0069	21	c.214 others(40): Show c.214-33967_214-33947dupTTTTTTTTTTTTTTTTTTTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCCT others(14): Show GTCTTCCTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0265 a0001c0001t0012g0265	1	290	0.0035	21	c.69 others(32): Show c.6961_*6962insTCTTCCTCTTCTTCTTCTTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCTT others(14): Show GTCTTCTTCTTCTTCTTCTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 NA20805.hp2 HG01243.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0121 a0001c0002t0002g0131 a0001c0002t0002g0121 a0001c0002t0002g0131	2	290	0.0069	21	c.69 others(32): Show c.6961_*6962insTCTTCTTCTTCTTCTTCTTAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCTT others(14): Show GTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01884.hp1 HG02015.hp2 others(12): Show HG00609.hp1 HG01884.hp1 HG02015.hp2 HG02080.hp1 HG02109.hp1 HG03516.hp1 NA18946.hp2 NA18961.hp1 NA18969.hp2 NA18983.hp2 NA19007.hp1 NA19060.hp2 NA19082.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0028 a0001c0001t0038 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0041	a0001c0001t0001g0255 a0001c0001t0004g0019 a0001c0001t0004g0142 others(12): Show a0001c0001t0001g0255 a0001c0001t0004g0019 a0001c0001t0004g0142 a0001c0001t0018g0227 a0001c0001t0028g0006 a0001c0001t0038g0098 a0001c0002t0001g0061 a0001c0002t0001g0072 a0001c0002t0001g0220 a0001c0002t0001g0222 a0001c0002t0002g0046 a0001c0002t0004g0002 a0001c0002t0004g0007 a0001c0002t0004g0016 a0001c0002t0041g0176	15	290	0.0517	21	c.69 others(32): Show c.6961_*6962insTCTTCTTCTTCTTCTTCTTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384596	C C	CTTCTTCT others(14): Show CTTCTTCTTCTTCTTCTTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 NA18968.hp2 NA18975.hp2 others(3): Show HG00323.hp2 NA18968.hp2 NA18975.hp2 NA18977.hp1 NA19080.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0020 others(1): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0020 a0001c0002t0027	a0001c0002t0002g0062 a0001c0002t0002g0253 a0001c0002t0005g0252 others(3): Show a0001c0002t0002g0062 a0001c0002t0002g0253 a0001c0002t0005g0252 a0001c0002t0005g0290 a0001c0002t0020g0052 a0001c0002t0027g0120	6	290	0.0207	21	c.69 others(32): Show c.6969_*6970insTTCTTCTTCTTCTTCTTCTTA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		964		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384650	T T	TTCTTCTT others(14): Show TTCTTCTTCTTCTTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0015 a0001c0002t0004g0015	1	290	0.0035	21	c.70 others(32): Show c.7023_*7024insTCTTCTTCTTCTTTCTTCTTC	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		1018		chr12	TogoVar
BICD2_chr9_92706363_92769833	92757312	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0179 a0001c0001t0005g0179	1	360	0.0028	21	c.240 others(38): Show c.240+7172_240+7192dupTTTTTTTTTTTTTTTTTTTTT	BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding	1/6			chr9	TogoVar
BICDL1_chr12_119984236_120099494	120033367	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02257.hp1 HG02615.hp2 others(6): Show HG01099.hp1 HG02257.hp1 HG02615.hp2 HG02717.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp1 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0029 a0001c0001t0001 a0001c0001t0003 a0001c0001t0029	a0001c0001t0001g0126 a0001c0001t0003g0122 a0001c0001t0003g0123 others(6): Show a0001c0001t0001g0126 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0276 a0001c0001t0003g0279 a0001c0001t0003g0283 a0001c0001t0029g0284	9	296	0.0304	21	c.646 others(40): Show c.646-28342_646-28322dupTTTTTTTTTTTTTTTTTTTTT	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	120045917	T T	TATAATAA others(14): Show TATAATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG01243.hp1 others(12): Show HG00597.hp1 HG00609.hp1 HG01243.hp1 HG01884.hp2 HG02717.hp2 HG03041.hp2 HG03486.hp1 HG03486.hp2 HG03927.hp1 NA18942.hp2 NA18956.hp2 NA18966.hp2 NA19002.hp2 NA19063.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 others(3): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0021 a0001c0002t0003 a0001c0002t0004	a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0006g0258 others(12): Show a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0006g0258 a0001c0001t0006g0261 a0001c0001t0006g0263 a0001c0001t0006g0266 a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0010g0005 a0001c0001t0010g0124 a0001c0001t0021g0256 a0001c0002t0003g0226 a0001c0002t0003g0245 a0001c0002t0004g0232 a0001c0002t0004g0246	15	296	0.0507	21	c.646 others(40): Show c.646-15774_646-15773insTAATAATAATAATAATAATAA	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BIN1_chr2_127043032_127112154	127063835	G G	GCAGCACG others(14): Show GCAGCACGCAGGCTGGGCACCA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	344	0.0029	21	c.698 others(34): Show c.698+77_698+97dupTGGTGCCCAGCCTGCGTGCTG	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	8/18			chr2	TogoVar
BIN1_chr2_127043032_127112154	127105467	C C	CCCTCCTC others(14): Show CCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03195.hp1 HG03831.hp2 others(2): Show HG02040.hp2 HG03195.hp1 HG03831.hp2 NA18959.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0003 a0001c0001t0001 a0001c0002t0001 a0001c0004t0003	a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 others(2): Show a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0002t0001g0071 a0001c0004t0003g0072	5	344	0.0145	21	c.84+ others(36): Show c.84+1372_84+1392dupAGGAGGAGGAGGAGGAGGAGG	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18			chr2	TogoVar
BIN2_chr12_51276038_51329174	51320934	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02257.hp2 NA19080.hp1 HG01070.hp1 HG02257.hp2 NA19080.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0005 a0001c0001 a0001c0004 a0004c0005	a0001c0001t0001 a0001c0004t0001 a0004c0005t0001 a0001c0001t0001 a0001c0004t0001 a0004c0005t0001	a0001c0001t0001g0238 a0001c0004t0001g0310 a0004c0005t0001g0036 a0001c0001t0001g0238 a0001c0004t0001g0310 a0004c0005t0001g0036	3	400	0.0075	21	c.81+ others(36): Show c.81+3087_81+3088insGTGTGTGTGTGTGTGTGTGTG	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	1/12			chr12	TogoVar
BIRC2_chr11_102342214_102383670	102364139	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0050 a0001c0004t0001g0050	1	344	0.0029	21	c.112 others(38): Show c.1123+423_1123+424insATATATATATATATATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8			chr11	TogoVar
BIRC6_chr2_32352023_32623878	32431181	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0156 a0001c0014t0001g0156	1	274	0.0037	21	c.324 others(38): Show c.3248+103_3248+123dupTTTTTTTTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	12/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32440751	T T	TTTTTTAT others(14): Show TTTTTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02895.hp2 HG02897.hp1 others(2): Show HG01928.hp1 HG02895.hp2 HG02897.hp1 HG03453.hp2 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0012 a0001c0006 a0001c0012	a0001c0006t0003 a0001c0012t0003 a0001c0006t0003 a0001c0012t0003	a0001c0006t0003g0003 a0001c0012t0003g0115 a0001c0012t0003g0116 others(2): Show a0001c0006t0003g0003 a0001c0012t0003g0115 a0001c0012t0003g0116 a0001c0012t0003g0272 a0001c0012t0003g0273	5	274	0.0183	21	c.381 others(38): Show c.3811-576_3811-575insTTTATTATTATTATTATTATT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	16/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32448652	T T	TGGAGAGG others(14): Show TGGAGAGGGGAGAGGGGAGAGG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0004 a0001c0030t0004	a0001c0030t0004g0016 a0001c0030t0004g0016	1	274	0.0037	21	c.448 others(38): Show c.4485-127_4485-107dupGAGAGGGGAGAGGGGAGAGGG	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	21/73		INFO_REALIGN_3_PRIME	chr2	TogoVar

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