Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BRI3_chr7_98276686_98296545	98288788	A A	AGGTTGGA others(6): Show AGGTTGGAGGGGGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG03225.hp1 others(3): Show HG02258.hp1 HG02559.hp1 HG03225.hp1 HG03225.hp2 HG04199.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0132 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0132 a0001c0002t0001g0100	6	414	0.0145	13	c.246 others(30): Show c.246-2321_246-2320insTTGGAGGGGGGGG	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
BRINP1_chr9_119161629_119374435	119237376	T T	TATTATTA others(6): Show TATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0236 a0001c0005t0002g0236	1	236	0.0042	13	c.685 others(30): Show c.685+1278_685+1279insTAATAATAATAAT	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	5/7			chr9	TogoVar
BRINP1_chr9_119161629_119374435	119249860	G G	GAGGGAGG others(6): Show GAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03098.hp2 HG03225.hp2 HG02809.hp1 HG03098.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0189 a0001c0003t0001g0197 a0001c0005t0001g0192 a0001c0003t0001g0189 a0001c0003t0001g0197 a0001c0005t0001g0192	3	236	0.0127	13	c.219 others(28): Show c.219-723_219-711dupTCCCTCCCTCCCT	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	2/7			chr9	TogoVar
BRINP3_chr1_190092658_190482864	190165460	T T	TTTTTTTT others(6): Show TTTTTTTTTTTGTG	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA19043.hp2 HG02135.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0108 a0001c0001t0002g0207 a0001c0001t0001g0108 a0001c0001t0002g0207	2	240	0.0083	13	c.962 others(30): Show c.962-4571_962-4570insCACAAAAAAAAAA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	6/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190453203	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02523.hp1 HG02895.hp1 others(4): Show HG02055.hp1 HG02523.hp1 HG02895.hp1 HG03490.hp1 HG03492.hp2 HG03927.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0032 a0001c0001t0001g0040 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0190 a0001c0001t0001g0194	7	240	0.0292	13	c.236 others(30): Show c.236+1439_236+1451dupAAAAAAAAAAAAA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRIP1_chr17_61674139_61868528	61683130	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0044 a0001c0005t0044	a0001c0005t0044g0083 a0001c0005t0044g0083	1	266	0.0038	13	c.16 others(22): Show c.165_*166insTTTTTTTTTTTTT	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	20/20	165		chr17	TogoVar
BRIP1_chr17_61674139_61868528	61765423	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0127 a0002c0002t0010g0127	1	266	0.0038	13	c.209 others(34): Show c.2097+10977_2097+10978insAAATATATATATA	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19			chr17	TogoVar
BRIP1_chr17_61674139_61868528	61765423	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0035 a0001c0001t0012g0035	1	266	0.0038	13	c.209 others(34): Show c.2097+10977_2097+10978insAAAAATATATATA	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19			chr17	TogoVar
BRIP1_chr17_61674139_61868528	61787393	T T	TATATTTA others(6): Show TATATTTATATAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00558.hp1 others(199): Show HG00140.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01934.hp2 HG01978.hp1 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18985.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0010 a0011	a0001c0001 a0001c0005 a0002c0002 others(8): Show a0001c0001 a0001c0005 a0002c0002 a0002c0003 a0003c0006 a0004c0004 a0005c0010 a0007c0011 a0009c0014 a0010c0008 a0011c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(60): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0033 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0005t0044 a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0016 a0002c0002t0021 a0002c0002t0026 a0002c0002t0041 a0002c0002t0042 a0002c0002t0047 a0002c0002t0058 a0002c0003t0003 a0002c0003t0005 a0002c0003t0010 a0002c0003t0013 a0002c0003t0014 a0002c0003t0019 a0002c0003t0020 a0002c0003t0022 a0002c0003t0029 a0002c0003t0030 a0002c0003t0039 a0002c0003t0040 a0002c0003t0043 a0002c0003t0046 a0002c0003t0059 a0002c0003t0060 a0002c0003t0061 a0002c0003t0062 a0002c0003t0063 a0002c0003t0064 a0003c0006t0005 a0004c0004t0005 a0004c0004t0014 a0005c0010t0004 a0007c0011t0002 a0009c0014t0002 a0010c0008t0002 a0011c0007t0002	a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0002g0003 others(198): Show a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0002g0003 a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0164 a0001c0001t0004g0171 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0180 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0198 a0001c0001t0004g0207 a0001c0001t0004g0211 a0001c0001t0004g0226 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0154 a0001c0001t0006g0160 a0001c0001t0006g0195 a0001c0001t0006g0233 a0001c0001t0006g0234 a0001c0001t0006g0237 a0001c0001t0006g0252 a0001c0001t0008g0149 a0001c0001t0008g0192 a0001c0001t0008g0241 a0001c0001t0008g0244 a0001c0001t0008g0245 a0001c0001t0008g0246 a0001c0001t0008g0247 a0001c0001t0008g0254 a0001c0001t0011g0037 a0001c0001t0011g0046 a0001c0001t0011g0095 a0001c0001t0011g0103 a0001c0001t0015g0151 a0001c0001t0015g0251 a0001c0001t0015g0255 a0001c0001t0015g0261 a0001c0001t0023g0109 a0001c0001t0023g0113 a0001c0001t0024g0066 a0001c0001t0024g0116 a0001c0001t0027g0189 a0001c0001t0027g0194 a0001c0001t0028g0231 a0001c0001t0028g0232 a0001c0001t0032g0141 a0001c0001t0033g0108 a0001c0001t0045g0089 a0001c0001t0048g0163 a0001c0001t0049g0168 a0001c0001t0050g0265 a0001c0001t0051g0250 a0001c0001t0052g0256 a0001c0001t0053g0262 a0001c0001t0054g0188 a0001c0001t0055g0209 a0001c0001t0057g0179 a0001c0005t0044g0083 a0002c0002t0003g0182 a0002c0002t0003g0183 a0002c0002t0003g0185 a0002c0002t0003g0186 a0002c0002t0003g0199 a0002c0002t0003g0200 a0002c0002t0003g0201 a0002c0002t0003g0203 a0002c0002t0003g0204 a0002c0002t0003g0205 a0002c0002t0003g0208 a0002c0002t0003g0212 a0002c0002t0003g0213 a0002c0002t0003g0215 a0002c0002t0003g0216 a0002c0002t0003g0235 a0002c0002t0003g0236 a0002c0002t0007g0156 a0002c0002t0007g0196 a0002c0002t0007g0197 a0002c0002t0007g0202 a0002c0002t0007g0219 a0002c0002t0007g0220 a0002c0002t0007g0221 a0002c0002t0007g0222 a0002c0002t0007g0223 a0002c0002t0007g0224 a0002c0002t0007g0225 a0002c0002t0007g0227 a0002c0002t0009g0067 a0002c0002t0009g0087 a0002c0002t0009g0105 a0002c0002t0009g0131 a0002c0002t0010g0001 a0002c0002t0010g0042 a0002c0002t0016g0166 a0002c0002t0016g0167 a0002c0002t0016g0238 a0002c0002t0016g0239 a0002c0002t0021g0214 a0002c0002t0021g0217 a0002c0002t0021g0218 a0002c0002t0026g0092 a0002c0002t0026g0112 a0002c0002t0041g0091 a0002c0002t0042g0093 a0002c0002t0047g0148 a0002c0002t0058g0170 a0002c0003t0003g0257 a0002c0003t0003g0258 a0002c0003t0003g0259 a0002c0003t0003g0263 a0002c0003t0003g0264 a0002c0003t0005g0038 a0002c0003t0005g0043 a0002c0003t0005g0044 a0002c0003t0005g0045 a0002c0003t0005g0050 a0002c0003t0005g0058 a0002c0003t0005g0060 a0002c0003t0005g0061 a0002c0003t0005g0069 a0002c0003t0005g0070 a0002c0003t0005g0071 a0002c0003t0005g0077 a0002c0003t0005g0090 a0002c0003t0010g0078 a0002c0003t0013g0016 a0002c0003t0013g0055 a0002c0003t0013g0056 a0002c0003t0013g0086 a0002c0003t0014g0027 a0002c0003t0014g0028 a0002c0003t0014g0088 a0002c0003t0019g0051 a0002c0003t0019g0059 a0002c0003t0019g0072 a0002c0003t0020g0079 a0002c0003t0020g0081 a0002c0003t0020g0082 a0002c0003t0022g0242 a0002c0003t0022g0243 a0002c0003t0029g0165 a0002c0003t0029g0253 a0002c0003t0030g0002 a0002c0003t0039g0030 a0002c0003t0040g0080 a0002c0003t0043g0111 a0002c0003t0046g0147 a0002c0003t0059g0206 a0002c0003t0060g0178 a0002c0003t0061g0184 a0002c0003t0062g0240 a0002c0003t0063g0249 a0002c0003t0064g0248 a0003c0006t0005g0074 a0003c0006t0005g0076 a0004c0004t0005g0041 a0004c0004t0014g0039 a0005c0010t0004g0187 a0007c0011t0002g0096 a0009c0014t0002g0129 a0010c0008t0002g0085 a0011c0007t0002g0040	202	266	0.7594	13	c.147 others(32): Show c.1474-2970_1474-2969insTTTATATAAATAT	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	10/19			chr17	TogoVar
BRK1_chr3_10110675_10132190	10111390	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02738.hp2 HG00558.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0074 a0001c0001t0005g0025 a0001c0001t0005g0074	2	356	0.0056	13	c.-43 others(24): Show c.-4312_-4311insAAAAAAAAAAAAA	BRK1	ENSG00000254999.4	transcript	ENST00000530758.2	protein_coding		4284		chr3	TogoVar
BRSK2_chr11_1384934_1467689	1394383	A A	ATGGAGAT others(6): Show ATGGAGATGGGTCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02976.hp1 HG03195.hp1 others(1): Show HG02257.hp1 HG02976.hp1 HG03195.hp1 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0045 a0001c0003t0014 a0002c0002t0015 a0001c0001t0045 a0001c0003t0014 a0002c0002t0015	a0001c0001t0045g0040 a0001c0003t0014g0037 a0002c0002t0015g0027 others(1): Show a0001c0001t0045g0040 a0001c0003t0014g0037 a0002c0002t0015g0027 a0002c0002t0015g0028	4	360	0.0111	13	c.91+ others(28): Show c.91+4019_91+4031dupTCCTGGAGATGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1394528	C C	CTGGAGAT others(6): Show CTGGAGATGGGCCA	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18952.hp1 NA18959.hp1 HG02723.hp1 NA18952.hp1 NA18959.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0057 a0001c0001t0001g0059 a0002c0002t0002g0014 a0001c0001t0001g0057 a0001c0001t0001g0059 a0002c0002t0002g0014	3	360	0.0083	13	c.91+ others(28): Show c.91+4164_91+4176dupCCATGGAGATGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1394606	A A	ATGGAGAT others(6): Show ATGGAGATGGGTCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0291 a0001c0003t0003g0291	1	360	0.0028	13	c.91+ others(28): Show c.91+4255_91+4267dupTCCTGGAGATGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1394725	A A	ATGGAGAT others(6): Show ATGGAGATGGGTCC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03942.hp1 HG02735.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0067 a0001c0001t0006 a0001c0001t0067	a0001c0001t0006g0251 a0001c0001t0067g0252 a0001c0001t0006g0251 a0001c0001t0067g0252	2	360	0.0056	13	c.91+ others(28): Show c.91+4374_91+4386dupTCCTGGAGATGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1394804	C C	CTGGAGAT others(6): Show CTGGAGATGGGCCA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	360	0.0028	13	c.91+ others(28): Show c.91+4440_91+4452dupCCATGGAGATGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1394870	A A	ATGGAGAT others(6): Show ATGGAGATGGGTCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01943.hp2 HG02145.hp1 others(4): Show HG01243.hp1 HG01943.hp2 HG02145.hp1 HG02647.hp1 HG03041.hp1 HG03225.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0043 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0043 a0001c0006t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 others(4): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0004g0051 a0001c0001t0043g0050 a0001c0006t0001g0047	7	360	0.0194	13	c.91+ others(28): Show c.91+4519_91+4531dupTCCTGGAGATGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1429407	G G	GGGTGTGC others(6): Show GGGTGTGCACTGGT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0146 a0001c0003t0001g0146	1	360	0.0028	13	c.92- others(28): Show c.92-6632_92-6631insGTGTGCACTGGTG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRWD1_chr21_39180482_39318632	39185295	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01192.hp2 HG02257.hp2 others(1): Show HG01123.hp1 HG01192.hp2 HG02257.hp2 NA18945.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0010 a0003c0004t0014 a0003c0004t0010 a0003c0004t0014	a0003c0004t0010g0090 a0003c0004t0010g0092 a0003c0004t0010g0094 others(1): Show a0003c0004t0010g0090 a0003c0004t0010g0092 a0003c0004t0010g0094 a0003c0004t0014g0328	4	338	0.0118	13	c.10 others(26): Show c.10951_*10963dupTTTTTTTTTTTTT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding		186		chr21	TogoVar
BRWD1_chr21_39180482_39318632	39203438	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp2 HG03239.hp1 HG00280.hp2 HG01081.hp2 HG03239.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0124 a0003c0004t0005g0128 a0003c0004t0005g0132 a0003c0004t0005g0124 a0003c0004t0005g0128 a0003c0004t0005g0132	3	338	0.0089	13	c.436 others(30): Show c.4365-906_4365-894dupAAAAAAAAAAAAA	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	37/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39207488	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA18994.hp2 HG00140.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0325 a0001c0001t0004g0266 a0001c0001t0003g0325 a0001c0001t0004g0266	2	338	0.0059	13	c.419 others(32): Show c.4198-1215_4198-1214insGTGTGTGTGTGTG	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	36/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39248641	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19070.hp1 NA19006.hp2 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0215 a0002c0002t0001g0242 a0002c0002t0001g0215 a0002c0002t0001g0242	2	338	0.0059	13	c.235 others(30): Show c.2350-822_2350-810dupTTTTTTTTTTTTT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	20/40			chr21	TogoVar
BRWD3_chrX_80664503_80814877	80730425	G G	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0036 a0001c0001t0006g0036	1	265	0.0038	13	c.112 others(30): Show c.1128-418_1128-406dupTCTTTCTTTCTTT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	12/40			chrX	TogoVar
BRWD3_chrX_80664503_80814877	80809744	G G	GAGAGAGA others(6): Show GAGAGAGAGGAAAA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG01070.hp1 others(5): Show HG00423.hp2 HG00438.hp1 HG01070.hp1 HG02683.hp2 NA18959.hp1 NA18969.hp2 NA18981.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0028 a0001c0001t0062 others(3): Show a0001c0001t0027 a0001c0001t0028 a0001c0001t0062 a0001c0001t0063 a0001c0001t0124 a0001c0001t0153	a0001c0001t0027g0031 a0001c0001t0027g0033 a0001c0001t0028g0028 others(5): Show a0001c0001t0027g0031 a0001c0001t0027g0033 a0001c0001t0028g0028 a0001c0001t0028g0030 a0001c0001t0062g0029 a0001c0001t0063g0032 a0001c0001t0124g0184 a0001c0001t0153g0256	8	265	0.0302	13	c.-27 others(22): Show c.-274_-273insTTTTCCTCTCTCT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	1/41	274		chrX	TogoVar
BRWD3_chrX_80664503_80814877	80809759	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0034 a0001c0001t0064g0034	1	265	0.0038	13	c.-28 others(22): Show c.-289_-288insCTCTCTCTCTCTC	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	1/41	289		chrX	TogoVar
BSCL2_chr11_62685275_62712424	62696276	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0030 a0002c0003t0002g0030	1	330	0.0030	13	c.487 others(30): Show c.487-1566_487-1565insCACACACACACAC	BSCL2	ENSG00000168000.16	transcript	ENST00000360796.10	protein_coding	3/10			chr11	TogoVar
BSCL2_chr11_62685275_62712424	62696278	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	330	0.0030	13	c.487 others(30): Show c.487-1568_487-1567insCACACACACACAC	BSCL2	ENSG00000168000.16	transcript	ENST00000360796.10	protein_coding	3/10			chr11	TogoVar
BSG_chr19_567596_588493	570610	G G	GGGAGGGG others(6): Show GGGAGGGGAGGGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0173 a0001c0002t0001g0173	1	306	0.0033	13	c.-20 others(24): Show c.-2025_-2024insGGAGGGGAGGGTT	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1985		chr19	TogoVar
BSG_chr19_567596_588493	570683	T T	TGGGAGGG others(6): Show TGGGAGGGGCGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG03130.hp2 NA18522.hp2 HG02257.hp2 HG03130.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0073 a0001c0001t0003g0021 a0001c0001t0003g0073	3	306	0.0098	13	c.-19 others(24): Show c.-1952_-1951insGGGAGGGGCGGAG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1912		chr19	TogoVar
BSG_chr19_567596_588493	570690	G G	GCGGAGGG others(6): Show GCGGAGGGGTGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0059 a0001c0003t0004g0059	1	306	0.0033	13	c.-19 others(24): Show c.-1945_-1944insCGGAGGGGTGGGT	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1905		chr19	TogoVar
BSND_chr1_54993933_55022172	54996837	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02717.hp2 HG02723.hp1 others(1): Show HG02257.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0154 a0001c0001t0218 a0001c0001t0259 others(1): Show a0001c0001t0154 a0001c0001t0218 a0001c0001t0259 a0001c0001t0263	a0001c0001t0154g0080 a0001c0001t0218g0073 a0001c0001t0259g0045 others(1): Show a0001c0001t0154g0080 a0001c0001t0218g0073 a0001c0001t0259g0045 a0001c0001t0263g0079	4	448	0.0089	13	c.-23 others(24): Show c.-2350_-2349insTTTTTTTTTTTTT	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding		2095		chr1	TogoVar
BSN_chr3_49549477_49676549	49613307	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0144 a0001c0001t0032g0144	1	186	0.0054	13	c.225 others(32): Show c.225-11667_225-11655dupGAGAGAGAGAGAG	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49624299	C C	CATTTTTT others(6): Show CATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	186	0.0054	13	c.225 others(28): Show c.225-676_225-675insATTTTTTTTTTTT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11			chr3	TogoVar
BSN_chr3_49549477_49676549	49624300	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(69): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01257.hp2 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp2 HG02055.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03471.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 NA18522.hp2 NA18612.hp1 NA18944.hp1 NA18951.hp1 NA18951.hp2 NA18963.hp1 NA18963.hp2 NA18973.hp2 NA18979.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19012.hp1 NA19070.hp1 NA19079.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0004 others(16): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0014 a0015 a0016 a0017 a0019 a0020 a0021 a0022 a0023	a0001c0001 a0001c0016 a0001c0017 others(23): Show a0001c0001 a0001c0016 a0001c0017 a0001c0027 a0002c0002 a0002c0018 a0004c0006 a0004c0022 a0005c0007 a0005c0032 a0005c0034 a0006c0005 a0007c0013 a0008c0015 a0009c0014 a0011c0010 a0012c0011 a0014c0037 a0015c0035 a0016c0021 a0017c0038 a0019c0026 a0020c0030 a0021c0025 a0022c0024 a0023c0028	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(35): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0016t0003 a0001c0017t0002 a0001c0027t0003 a0002c0002t0001 a0002c0002t0005 a0002c0002t0016 a0002c0018t0001 a0004c0006t0002 a0004c0022t0002 a0005c0007t0007 a0005c0007t0034 a0005c0032t0007 a0005c0034t0015 a0006c0005t0008 a0007c0013t0013 a0008c0015t0002 a0009c0014t0009 a0011c0010t0001 a0012c0011t0001 a0014c0037t0025 a0015c0035t0002 a0016c0021t0002 a0017c0038t0027 a0019c0026t0002 a0020c0030t0002 a0021c0025t0028 a0022c0024t0007 a0023c0028t0003	a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0107 others(69): Show a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0124 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0147 a0001c0001t0002g0151 a0001c0001t0002g0161 a0001c0001t0003g0041 a0001c0001t0003g0119 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0138 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0009g0094 a0001c0001t0009g0149 a0001c0001t0011g0098 a0001c0001t0011g0125 a0001c0001t0011g0127 a0001c0001t0012g0136 a0001c0001t0019g0093 a0001c0001t0020g0092 a0001c0001t0030g0121 a0001c0001t0031g0142 a0001c0001t0032g0144 a0001c0016t0003g0164 a0001c0017t0002g0106 a0001c0027t0003g0186 a0002c0002t0001g0054 a0002c0002t0001g0059 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0163 a0002c0002t0001g0181 a0002c0002t0005g0039 a0002c0002t0005g0062 a0002c0002t0016g0040 a0002c0018t0001g0009 a0004c0006t0002g0037 a0004c0006t0002g0179 a0004c0022t0002g0034 a0005c0007t0007g0002 a0005c0007t0034g0004 a0005c0032t0007g0080 a0005c0034t0015g0001 a0006c0005t0008g0064 a0006c0005t0008g0068 a0006c0005t0008g0069 a0007c0013t0013g0051 a0008c0015t0002g0108 a0009c0014t0009g0099 a0011c0010t0001g0165 a0012c0011t0001g0066 a0012c0011t0001g0067 a0014c0037t0025g0052 a0015c0035t0002g0134 a0016c0021t0002g0111 a0017c0038t0027g0003 a0019c0026t0002g0100 a0020c0030t0002g0143 a0021c0025t0028g0101 a0022c0024t0007g0008 a0023c0028t0003g0150	72	186	0.3871	13	c.225 others(28): Show c.225-670_225-658dupTTTTTTTTTTTTT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49673087	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG04228.hp2 HG02257.hp1 HG04228.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0006 a0001c0001t0002 a0003c0004t0006	a0001c0001t0002g0148 a0003c0004t0006g0033 a0001c0001t0002g0148 a0003c0004t0006g0033	2	186	0.0108	13	c.56 others(24): Show c.5602_*5603insTTTTTTTTTTTTT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding		1539		chr3	TogoVar
BSPH1_chr19_47963046_47997170	47969684	G G	GAGAGAGA others(6): Show GAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03139.hp1 HG02818.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0085 a0001c0001t0003g0328 a0001c0001t0001g0085 a0001c0001t0003g0328	2	444	0.0045	13	c.3- others(28): Show c.3-1476_*3-1475insTCTCTCTCTCTCT	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	5/5			chr19	TogoVar
BSPH1_chr19_47963046_47997170	47969684	G G	GGGAGAGA others(6): Show GGGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0304	1	444	0.0023	13	c.3- others(28): Show c.3-1476_*3-1475insTCTCTCTCTCTCC	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	5/5			chr19	TogoVar
BSPRY_chr9_113344541_113376222	113347004	T T	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG03130.hp2 HG02572.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0319 a0001c0001t0002g0320	2	448	0.0045	13	c.-25 others(24): Show c.-2576_-2575insCTTTCTTTCTTTC	BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding		2536		chr9	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATTATAT others(6): Show TATTATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	13	c.-49 others(24): Show c.-4955_-4954insGTGTATATATAAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4900		chr19	TogoVar
BSX_chr11_122972570_122986834	122983523	G G	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG02630.hp1 others(1): Show HG02109.hp1 HG02572.hp1 HG02630.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0061 a0002c0002t0001g0009 a0001c0001t0001g0061 a0002c0002t0001g0009	4	422	0.0095	13	c.-18 others(24): Show c.-1853_-1852insTCTTTCTTTCTTT	BSX	ENSG00000188909.5	transcript	ENST00000343035.3	protein_coding		1690		chr11	TogoVar
BTAF1_chr10_91918770_92036437	91925516	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18999.hp2 HG02040.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0306 a0001c0001t0003g0177 a0001c0001t0002g0306 a0001c0001t0003g0177	2	330	0.0061	13	c.14+ others(28): Show c.14+1427_14+1439dupTTTTTTTTTTTTT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	91942295	A A	AAGTTTGT others(6): Show AAGTTTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp1 HG01891.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0171 a0001c0001t0002g0165 a0001c0001t0002g0171	2	330	0.0061	13	c.254 others(28): Show c.254-127_254-126insAGTTTGTGTGTGT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	3/37			chr10	TogoVar
BTAF1_chr10_91918770_92036437	92032009	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01081.hp1 HG01192.hp2 others(24): Show HG00438.hp1 HG01081.hp1 HG01192.hp2 HG01361.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02572.hp2 HG02723.hp2 HG02895.hp2 HG02922.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03942.hp1 HG04184.hp1 NA18979.hp1 NA18989.hp1 NA18992.hp2 NA18998.hp2 NA19000.hp1 NA19011.hp2 NA19057.hp1 NA19087.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 a0001c0001t0001 a0001c0004t0001 a0001c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(23): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0004t0001g0076 a0001c0006t0001g0001	27	330	0.0818	13	c.30 others(24): Show c.3076_*3077insTTTTTTTTTTTTT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding		573		chr10	TogoVar
BTBD17_chr17_74351416_74366868	74365044	C C	CATATATA others(6): Show CATATATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	444	0.0023	13	c.-32 others(24): Show c.-3226_-3225insATTATATATATAT	BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding		3177		chr17	TogoVar
BTBD1_chr15_83011423_83072252	83032977	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG00738.hp2 others(4): Show HG00639.hp1 HG00735.hp1 HG00738.hp2 HG01167.hp2 HG01361.hp2 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0110 others(4): Show a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114	7	328	0.0213	13	c.863 others(30): Show c.863-2650_863-2649insGTTTTTTTTTTTT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	4/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83051904	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	328	0.0031	13	c.559 others(30): Show c.559-1727_559-1726insGTGTGTGTGTGTG	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7			chr15	TogoVar
BTBD2_chr19_1980448_2020714	1983398	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0249 a0001c0001t0023g0249	1	364	0.0028	13	c.30 others(24): Show c.3089_*3090insTTTTTTTTTTTTT	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding		2049		chr19	TogoVar
BTBD2_chr19_1980448_2020714	2017831	T T	TATTTTTA others(6): Show TATTTTTATTTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0144 a0003c0004t0002g0144	1	364	0.0028	13	c.-21 others(24): Show c.-2129_-2128insTAAAAATAAAAAT	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding		2118		chr19	TogoVar
BTBD2_chr19_1980448_2020714	2018443	T T	TCCTGCCT others(6): Show TCCTGCCTCAGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	364	0.0028	13	c.-27 others(24): Show c.-2753_-2741dupGGGCTGAGGCAGG	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding		2730		chr19	TogoVar
BTBD7_chr14_93232550_93338036	93287228	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02976.hp1 HG03516.hp1 others(2): Show HG02630.hp1 HG02976.hp1 HG03516.hp1 NA19030.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0027 a0001c0001t0028 a0002c0002t0031 others(1): Show a0001c0001t0027 a0001c0001t0028 a0002c0002t0031 a0002c0002t0054	a0001c0001t0027g0130 a0001c0001t0027g0152 a0001c0001t0028g0166 others(2): Show a0001c0001t0027g0130 a0001c0001t0027g0152 a0001c0001t0028g0166 a0002c0002t0031g0149 a0002c0002t0054g0153	5	375	0.0133	13	c.116 others(32): Show c.1162+6617_1162+6629dupTTTTTTTTTTTTT	BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	3/10			chr14	TogoVar
BTBD7_chr14_93232550_93338036	93324421	C C	CAAAAAAA others(6): Show CAAAAAAAAAATAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp2 others(85): Show HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01168.hp2 HG01243.hp2 HG01346.hp1 HG01496.hp2 HG01515.hp1 HG01975.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp1 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03492.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG04228.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19004.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19089.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0005 a0006c0010 a0001c0001 a0001c0005 a0006c0010	a0001c0001t0002 a0001c0001t0012 a0001c0001t0032 others(9): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0032 a0001c0001t0033 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0005t0002 a0006c0010t0002	a0001c0001t0002g0002 a0001c0001t0002g0285 a0001c0001t0002g0286 others(84): Show a0001c0001t0002g0002 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0353 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0001t0002g0367 a0001c0001t0002g0370 a0001c0001t0002g0372 a0001c0001t0002g0373 a0001c0001t0012g0123 a0001c0001t0012g0124 a0001c0001t0012g0125 a0001c0001t0012g0126 a0001c0001t0032g0368 a0001c0001t0032g0369 a0001c0001t0033g0292 a0001c0001t0033g0294 a0001c0001t0059g0287 a0001c0001t0060g0354 a0001c0001t0061g0306 a0001c0001t0062g0371 a0001c0001t0063g0304 a0001c0001t0064g0293 a0001c0005t0002g0289 a0006c0010t0002g0288	88	375	0.2347	13	c.-10 others(32): Show c.-107+8398_-107+8399insTTATTTTTTTTTT	BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10			chr14	TogoVar

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