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
BEND2_chrX_18157931_18225886	18190766	T T	TCACACAC others(1): Show TCACACACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG01358.hp1 others(6): Show HG00280.hp1 HG00323.hp1 HG01358.hp1 HG01361.hp1 HG02257.hp2 HG03704.hp2 NA19007.hp1 NA19043.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0012 a0002c0002t0001 a0002c0002t0002 a0002c0002t0012	a0002c0002t0001g0004 a0002c0002t0001g0132 a0002c0002t0001g0174 others(5): Show a0002c0002t0001g0004 a0002c0002t0001g0132 a0002c0002t0001g0174 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0204 a0002c0002t0002g0186 a0002c0002t0012g0188	9	295	0.0305	8	c.128 others(25): Show c.1288+227_1288+234dupTGTGTGTG	BEND2	ENSG00000177324.14	transcript	ENST00000380033.9	protein_coding	8/13			chrX	TogoVar
BEND2_chrX_18157931_18225886	18190766	T T	TCTCACAC others(1): Show TCTCACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp2 others(58): Show HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00673.hp1 HG02004.hp1 HG02083.hp1 HG02165.hp2 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02809.hp2 HG03225.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp2 HG04204.hp1 NA18747.hp1 NA18939.hp1 NA18944.hp1 NA18947.hp2 NA18951.hp1 NA18956.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA19001.hp1 NA19010.hp1 NA19057.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19072.hp1 NA19079.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA20905.hp1 NA21309.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0003 a0005c0013 a0002c0002 a0002c0003 a0005c0013	a0002c0002t0001 a0002c0002t0005 a0002c0002t0013 others(4): Show a0002c0002t0001 a0002c0002t0005 a0002c0002t0013 a0002c0002t0016 a0002c0002t0018 a0002c0003t0001 a0005c0013t0001	a0002c0002t0001g0139 a0002c0002t0001g0149 a0002c0002t0001g0150 others(58): Show a0002c0002t0001g0139 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0178 a0002c0002t0001g0180 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0201 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0259 a0002c0002t0001g0264 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0005g0165 a0002c0002t0013g0199 a0002c0002t0016g0179 a0002c0002t0018g0289 a0002c0003t0001g0131 a0002c0003t0001g0175 a0002c0003t0001g0183 a0002c0003t0001g0268 a0005c0013t0001g0152	61	295	0.2068	8	c.128 others(25): Show c.1288+234_1288+235insTGTGTGAG	BEND2	ENSG00000177324.14	transcript	ENST00000380033.9	protein_coding	8/13			chrX	TogoVar
BEND2_chrX_18157931_18225886	18190766	T T	TCTCTCTC others(1): Show TCTCTCTCA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0209 a0003c0005t0001g0209	1	295	0.0034	8	c.128 others(25): Show c.1288+234_1288+235insTGAGAGAG	BEND2	ENSG00000177324.14	transcript	ENST00000380033.9	protein_coding	8/13			chrX	TogoVar
BEND2_chrX_18157931_18225886	18194972	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02293.hp1 HG02559.hp1 others(1): Show HG02280.hp2 HG02293.hp1 HG02559.hp1 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0002c0002t0001g0149 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0002c0002t0001g0149 a0002c0002t0001g0198	4	295	0.0136	8	c.118 others(25): Show c.1180+316_1180+323dupGTGTGTGT	BEND2	ENSG00000177324.14	transcript	ENST00000380033.9	protein_coding	7/13			chrX	TogoVar
BEND3_chr6_107060182_107120515	107103959	A A	AAAAGAAA others(1): Show AAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01346.hp1 HG01358.hp1 others(6): Show HG00735.hp1 HG01346.hp1 HG01358.hp1 HG02145.hp1 HG02148.hp2 HG02273.hp2 HG02300.hp1 HG02922.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0010 a0001c0001t0034 others(2): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0034 a0001c0003t0004 a0001c0003t0015	a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 others(6): Show a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0152 a0001c0001t0010g0124 a0001c0001t0010g0216 a0001c0001t0034g0215 a0001c0003t0004g0128 a0001c0003t0015g0130	9	368	0.0245	8	c.-11 others(25): Show c.-11-4671_-11-4664dupCTTTCTTT	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	1/3			chr6	TogoVar
BEND4_chr4_42105853_42157655	42132440	A A	ATTATTTA others(1): Show ATTATTTAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02258.hp2 others(15): Show HG01884.hp1 HG02055.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03516.hp1 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0014 a0001c0001 a0002c0002 a0003c0014	a0001c0001t0002 a0001c0001t0005 a0001c0001t0016 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0016 a0002c0002t0017 a0002c0002t0030 a0003c0014t0005	a0001c0001t0002g0112 a0001c0001t0005g0019 a0001c0001t0005g0021 others(11): Show a0001c0001t0002g0112 a0001c0001t0005g0019 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0113 a0001c0001t0005g0118 a0001c0001t0016g0125 a0001c0001t0016g0135 a0002c0002t0017g0024 a0002c0002t0030g0134 a0003c0014t0005g0160	18	226	0.0797	8	c.105 others(27): Show c.1055-6774_1055-6767dupATAAATAA	BEND4	ENSG00000188848.17	transcript	ENST00000502486.6	protein_coding	3/5			chr4	TogoVar
BEND5_chr1_48722519_48781891	48762614	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02976.hp2 HG03098.hp1 HG02647.hp2 HG02976.hp2 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0102 a0001c0002t0002g0143 a0001c0002t0002g0193 a0001c0002t0002g0102 a0001c0002t0002g0143 a0001c0002t0002g0193	3	342	0.0088	8	c.227 others(25): Show c.227-1152_227-1145dupCACACACA	BEND5	ENSG00000162373.13	transcript	ENST00000371833.4	protein_coding	1/5			chr1	TogoVar
BEND5_chr1_48722519_48781891	48762656	G G	GTGTGTGT others(1): Show GTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01243.hp1 HG01358.hp1 others(3): Show HG01168.hp2 HG01243.hp1 HG01358.hp1 HG01884.hp1 HG01891.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0083 a0001c0001t0001g0147 a0001c0001t0001g0162 others(3): Show a0001c0001t0001g0083 a0001c0001t0001g0147 a0001c0001t0001g0162 a0001c0001t0002g0181 a0001c0002t0001g0038 a0001c0002t0001g0039	6	342	0.0175	8	c.227 others(25): Show c.227-1187_227-1186insTACACACA	BEND5	ENSG00000162373.13	transcript	ENST00000371833.4	protein_coding	1/5			chr1	TogoVar
BEND5_chr1_48722519_48781891	48769526	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00639.hp1 others(20): Show HG00099.hp2 HG00280.hp1 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG01099.hp1 HG01433.hp1 HG01496.hp2 HG01975.hp2 HG02622.hp1 HG02896.hp2 HG03453.hp1 HG03486.hp1 HG03688.hp2 HG04115.hp1 NA18947.hp1 NA18962.hp1 NA18975.hp2 NA18977.hp2 NA19043.hp2 NA19060.hp1 NA19067.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0012 a0001c0001t0001g0103 a0001c0001t0001g0105 others(19): Show a0001c0001t0001g0012 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0120 a0001c0002t0002g0118 a0001c0002t0002g0121	23	342	0.0673	8	c.226 others(25): Show c.226+7072_226+7079dupGTGTGTGT	BEND5	ENSG00000162373.13	transcript	ENST00000371833.4	protein_coding	1/5			chr1	TogoVar
BEND5_chr1_48722519_48781891	48778135	A A	ACATCCAT others(1): Show ACATCCATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01175.hp2 HG02559.hp1 others(13): Show HG00621.hp1 HG01175.hp2 HG02559.hp1 HG02717.hp1 HG03195.hp1 NA18960.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18987.hp1 NA18999.hp2 NA19063.hp1 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0092 others(12): Show a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0210 a0001c0001t0002g0045 a0001c0001t0002g0171 a0001c0002t0001g0008 a0001c0002t0001g0023 a0001c0002t0001g0037 a0001c0002t0001g0228 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0002g0011 a0001c0002t0002g0081	16	342	0.0468	8	c.-13 others(19): Show c.-1312_-1305dupGATGGATG	BEND5	ENSG00000162373.13	transcript	ENST00000371833.4	protein_coding		1245		chr1	TogoVar
BEND7_chr10_13436088_13534014	13503712	A A	AAAACAAA others(1): Show AAAACAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(71): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00544.hp2 HG00609.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp2 HG02135.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02630.hp1 HG02735.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG03834.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18949.hp1 NA18959.hp1 NA18966.hp2 NA18989.hp1 NA18991.hp1 NA19000.hp1 NA19004.hp1 NA19010.hp1 NA19063.hp2 NA19072.hp1 NA19088.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(62): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0002g0246 a0001c0001t0002g0267 a0001c0001t0004g0100 a0001c0004t0001g0050 a0001c0004t0001g0063 a0001c0004t0001g0234 a0001c0004t0001g0237 a0001c0004t0001g0238	74	300	0.2467	8	c.146 others(25): Show c.146-3640_146-3633dupGTTTGTTT	BEND7	ENSG00000165626.19	transcript	ENST00000466271.3	protein_coding	2/8			chr10	TogoVar
BEST1_chr11_61945351_61969461	61951197	A A	ATTATTTA others(1): Show ATTATTTAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp1 HG02723.hp2 others(7): Show HG01891.hp2 HG02615.hp1 HG02723.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03453.hp1 HG03540.hp1 HG06807.hp1	a0001 a0008 a0001 a0008	a0001c0008 a0008c0018 a0001c0008 a0008c0018	a0001c0008t0001 a0008c0018t0002 a0001c0008t0001 a0008c0018t0002	a0001c0008t0001g0007 a0001c0008t0001g0068 a0008c0018t0002g0069 a0001c0008t0001g0007 a0001c0008t0001g0068 a0008c0018t0002g0069	10	410	0.0244	8	c.-36 others(23): Show c.-36-555_-36-548dupATTTATTT	BEST1	ENSG00000167995.17	transcript	ENST00000378043.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
BEST1_chr11_61945351_61969461	61953886	A A	AAAACAAA others(1): Show AAAACAAAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02273.hp2 HG02717.hp2 others(5): Show HG02109.hp1 HG02273.hp2 HG02717.hp2 HG02922.hp2 HG03139.hp1 HG03516.hp2 NA18977.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0021 a0001c0002t0001g0128 a0001c0004t0001g0127 others(2): Show a0001c0002t0001g0021 a0001c0002t0001g0128 a0001c0004t0001g0127 a0001c0004t0001g0203 a0001c0004t0001g0204	8	410	0.0195	8	c.153 others(25): Show c.153-1197_153-1190dupCAAACAAA	BEST1	ENSG00000167995.17	transcript	ENST00000378043.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
BEST1_chr11_61945351_61969461	61957972	T T	TCAAACAA others(1): Show TCAAACAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(171): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02300.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG03195.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19007.hp2 NA19011.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0002c0016 a0004c0022 a0005c0017 a0007c0021	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(11): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0009t0001 a0001c0010t0001 a0001c0013t0001 a0001c0014t0001 a0002c0016t0001 a0004c0022t0001 a0005c0017t0001 a0007c0021t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(82): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0162 a0001c0002t0001g0031 a0001c0002t0001g0159 a0001c0002t0001g0168 a0001c0003t0001g0003 a0001c0003t0001g0016 a0001c0003t0001g0034 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0058 a0001c0003t0001g0175 a0001c0003t0001g0181 a0001c0003t0001g0196 a0001c0003t0001g0201 a0001c0004t0001g0079 a0001c0005t0001g0003 a0001c0005t0001g0185 a0001c0005t0001g0187 a0001c0005t0001g0192 a0001c0005t0001g0193 a0001c0005t0001g0198 a0001c0007t0001g0009 a0001c0007t0001g0024 a0001c0007t0001g0186 a0001c0007t0001g0189 a0001c0009t0001g0035 a0001c0009t0001g0054 a0001c0009t0001g0188 a0001c0009t0001g0194 a0001c0009t0001g0197 a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0028 a0001c0010t0001g0134 a0001c0013t0001g0167 a0001c0013t0001g0172 a0001c0014t0001g0050 a0001c0014t0001g0169 a0002c0016t0001g0057 a0004c0022t0001g0173 a0005c0017t0001g0102 a0007c0021t0001g0070	174	410	0.4244	8	c.715 others(23): Show c.715-153_715-146dupCAAACAAA	BEST1	ENSG00000167995.17	transcript	ENST00000378043.9	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
BEST1_chr11_61945351_61969461	61958903	C C	CACACACA others(1): Show CACACACAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02896.hp1 HG02572.hp1 HG02647.hp1 HG02896.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0061 a0001c0004t0001g0062 a0001c0004t0001g0064 a0001c0004t0001g0061 a0001c0004t0001g0062 a0001c0004t0001g0064	3	410	0.0073	8	c.868 others(23): Show c.868-592_868-591insCACATACA	BEST1	ENSG00000167995.17	transcript	ENST00000378043.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
BEST3_chr12_69648609_69704303	69680310	C C	CTTCTTTT others(1): Show CTTCTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(54): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01346.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG02056.hp1 HG02080.hp1 HG02132.hp2 HG02683.hp1 NA18747.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp2 NA18957.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp1 NA18971.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18997.hp1 NA18999.hp2 NA19002.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19070.hp2 NA19077.hp1 NA19080.hp1 NA19082.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(40): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0002g0083	57	366	0.1557	8	c.482 others(25): Show c.482-1418_482-1417insAAAAAGAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BEST3_chr12_69648609_69704303	69686786	A A	AAAAAAAA others(1): Show AAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG01884.hp1 others(33): Show HG01167.hp1 HG01243.hp1 HG01884.hp1 HG01891.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 NA18747.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0003 a0001c0001 a0001c0006 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0006t0006 a0003c0003t0001	a0001c0001t0001g0032 a0001c0001t0001g0198 a0001c0001t0001g0199 others(31): Show a0001c0001t0001g0032 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0002g0110 a0001c0001t0005g0203 a0001c0001t0007g0208 a0001c0001t0007g0209 a0001c0001t0007g0210 a0001c0001t0010g0314 a0001c0006t0006g0204 a0003c0003t0001g0033 a0003c0003t0001g0220 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0226 a0003c0003t0001g0229 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0234	36	366	0.0984	8	c.481 others(25): Show c.481+6887_481+6888insCTTTTTTT	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BEST3_chr12_69648609_69704303	69700981	T T	TTCCCTCC others(1): Show TTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00621.hp1 others(19): Show HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00673.hp2 HG02080.hp1 HG02132.hp2 HG02135.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp2 NA18747.hp1 NA18950.hp2 NA18964.hp2 NA18971.hp2 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA19002.hp2 NA19007.hp1 NA19030.hp2 NA19056.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0024 others(16): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0002g0110	22	366	0.0601	8	c.-17 others(19): Show c.-1793_-1792insGGGAGGGA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding		1679		chr12	TogoVar
BEST3_chr12_69648609_69704303	69700985	T T	TTCCCTCC others(1): Show TTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG02132.hp1 NA18966.hp1 others(3): Show HG01175.hp2 HG02132.hp1 NA18966.hp1 NA18980.hp2 NA18990.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0142 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0142 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0171	6	366	0.0164	8	c.-17 others(19): Show c.-1797_-1796insGGGAGGGA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding		1683		chr12	TogoVar
BEST4_chr1_44778585_44793170	44782629	C C	CAAATAAA others(1): Show CAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 NA18953.hp2 NA18981.hp2 others(3): Show HG00140.hp1 NA18953.hp2 NA18981.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0005g0016 a0001c0001t0008g0020 others(1): Show a0001c0001t0001g0001 a0001c0001t0005g0016 a0001c0001t0008g0020 a0001c0003t0001g0029	6	390	0.0154	8	c.15 others(19): Show c.1580_*1581insATTTATTT	BEST4	ENSG00000142959.5	transcript	ENST00000372207.4	protein_coding		955		chr1	TogoVar
BEST4_chr1_44778585_44793170	44792972	T T	TAAACAAA others(1): Show TAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00735.hp2 others(34): Show HG00408.hp2 HG00423.hp2 HG00735.hp2 HG01099.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01934.hp1 HG01975.hp2 HG02015.hp1 HG02132.hp2 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02622.hp2 HG03239.hp2 HG03486.hp2 HG03834.hp1 HG04204.hp1 NA18747.hp1 NA18948.hp1 NA18956.hp1 NA18960.hp2 NA18966.hp1 NA18975.hp1 NA18977.hp2 NA18992.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19060.hp1 NA19074.hp2 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0002g0002 a0001c0001t0002g0005 others(1): Show a0001c0001t0001g0007 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006	37	390	0.0949	8	c.-52 others(19): Show c.-5268_-5267insGTTTGTTT	BEST4	ENSG00000142959.5	transcript	ENST00000372207.4	protein_coding		4803		chr1	TogoVar
BEX1_chrX_103057651_103069171	103058345	C C	CAAAATGT others(1): Show CAAAATGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	339	0.0030	8	c.45 others(19): Show c.4551_*4552insCACATTTT	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		4305		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060008	C C	CTATATAT others(1): Show CTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG03710.hp1 HG02109.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0003 a0001c0001t0001g0024	2	339	0.0059	8	c.28 others(19): Show c.2888_*2889insTATATATA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2642		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060010	C C	CTATATAT others(1): Show CTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	339	0.0030	8	c.28 others(19): Show c.2886_*2887insTATATATA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2640		chrX	TogoVar
BEX1_chrX_103057651_103069171	103065997	T T	TTATATAT others(1): Show TTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	339	0.0030	8	c.-19 others(19): Show c.-1998_-1997insTATATATA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		1827		chrX	TogoVar
BEX1_chrX_103057651_103069171	103066049	G G	GTGTATAT others(1): Show GTGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 NA19030.hp2 NA19056.hp1 others(1): Show HG02630.hp2 NA19030.hp2 NA19056.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0023	4	339	0.0118	8	c.-20 others(19): Show c.-2050_-2049insTATATACA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		1879		chrX	TogoVar
BEX1_chrX_103057651_103069171	103066049	G G	GTGTGTAT others(1): Show GTGTGTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01496.hp2 HG01978.hp2 others(18): Show HG00741.hp1 HG01496.hp2 HG01978.hp2 HG01993.hp1 HG02040.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02818.hp1 HG03486.hp2 NA18612.hp1 NA18943.hp1 NA18948.hp1 NA18957.hp1 NA19010.hp1 NA19010.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp2 NA19084.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0034	21	339	0.0620	8	c.-20 others(19): Show c.-2050_-2049insTATACACA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		1879		chrX	TogoVar
BEX1_chrX_103057651_103069171	103066049	G G	GTGTGTGT others(1): Show GTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	339	0.0030	8	c.-20 others(19): Show c.-2050_-2049insTACACACA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		1879		chrX	TogoVar
BEX2_chrX_103304346_103315990	103314607	T T	TACAAAAA others(1): Show TACAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02258.hp1 HG02451.hp1 others(8): Show HG01109.hp1 HG02258.hp1 HG02451.hp1 HG02809.hp1 HG02897.hp1 HG03041.hp1 HG03139.hp1 HG03453.hp2 HG03471.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0001 a0001c0005t0001g0016 a0001c0001t0001g0001 a0001c0005t0001g0016	11	308	0.0357	8	c.-38 others(19): Show c.-3830_-3829insTTTTTTGT	BEX2	ENSG00000133134.12	transcript	ENST00000372677.8	protein_coding		3618		chrX	TogoVar
BEX5_chrX_102148712_102160977	102153606	C C	CATATATA others(1): Show CATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG02129.hp1 HG02647.hp1 others(7): Show HG01175.hp2 HG02129.hp1 HG02647.hp1 HG02965.hp1 HG02976.hp2 HG04115.hp1 NA18941.hp1 NA18963.hp1 NA18968.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0008 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0008 a0001c0001t0003g0006 a0001c0001t0003g0010	10	324	0.0309	8	c.32 others(17): Show c.323_*324insATATATAT	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		105		chrX	TogoVar
BEX5_chrX_102148712_102160977	102157003	G G	GAAGAAGA others(1): Show GAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(257): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0020 a0001c0001t0003g0006 a0001c0001t0003g0010 a0001c0001t0003g0015 a0001c0001t0004g0024 a0001c0001t0005g0023	260	324	0.8025	8	c.-12 others(19): Show c.-1250_-1249insTTCTTCTT	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		1027		chrX	TogoVar
BFSP1_chr20_17488905_17536379	17497457	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01069.hp1 HG01081.hp2 others(30): Show HG00621.hp2 HG01069.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01516.hp1 HG01517.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03654.hp1 HG03834.hp2 NA18952.hp2 NA19030.hp1 NA19240.hp2 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0004 a0001c0005 a0001c0006 others(1): Show a0001c0004 a0001c0005 a0001c0006 a0006c0021	a0001c0004t0002 a0001c0005t0004 a0001c0006t0002 others(1): Show a0001c0004t0002 a0001c0005t0004 a0001c0006t0002 a0006c0021t0004	a0001c0004t0002g0130 a0001c0004t0002g0180 a0001c0004t0002g0217 others(26): Show a0001c0004t0002g0130 a0001c0004t0002g0180 a0001c0004t0002g0217 a0001c0004t0002g0218 a0001c0004t0002g0325 a0001c0005t0004g0002 a0001c0005t0004g0116 a0001c0005t0004g0136 a0001c0005t0004g0142 a0001c0005t0004g0278 a0001c0005t0004g0279 a0001c0005t0004g0281 a0001c0005t0004g0291 a0001c0005t0004g0292 a0001c0005t0004g0293 a0001c0005t0004g0294 a0001c0005t0004g0295 a0001c0005t0004g0296 a0001c0005t0004g0297 a0001c0005t0004g0298 a0001c0005t0004g0299 a0001c0005t0004g0310 a0001c0006t0002g0009 a0001c0006t0002g0010 a0001c0006t0002g0028 a0001c0006t0002g0135 a0001c0006t0002g0140 a0001c0006t0002g0239 a0006c0021t0004g0022	33	396	0.0833	8	c.957 others(23): Show c.957-435_957-434insGTGTGTGT	BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding	6/7			chr20	TogoVar
BFSP1_chr20_17488905_17536379	17497459	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00544.hp2 others(41): Show HG00099.hp1 HG00423.hp2 HG00544.hp2 HG00639.hp1 HG01081.hp1 HG01109.hp2 HG01175.hp1 HG01243.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01943.hp1 HG02074.hp1 HG02083.hp1 HG02148.hp1 HG02148.hp2 HG02293.hp2 HG02486.hp1 HG02698.hp2 HG02735.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03017.hp2 HG03130.hp2 HG03453.hp1 HG03492.hp2 HG03540.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG04228.hp1 NA18522.hp2 NA18906.hp2 NA18994.hp1 NA19006.hp1 NA19012.hp1 NA19074.hp2 NA19079.hp2 NA20129.hp2 NA20300.hp2	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0012 a0007c0016 a0009c0025	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(4): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0004t0002 a0001c0012t0001 a0007c0016t0002 a0009c0025t0002	a0001c0002t0001g0007 a0001c0003t0001g0081 a0001c0003t0001g0275 others(39): Show a0001c0002t0001g0007 a0001c0003t0001g0081 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0301 a0001c0003t0002g0137 a0001c0004t0002g0030 a0001c0004t0002g0031 a0001c0004t0002g0034 a0001c0004t0002g0035 a0001c0004t0002g0084 a0001c0004t0002g0093 a0001c0004t0002g0094 a0001c0004t0002g0115 a0001c0004t0002g0129 a0001c0004t0002g0131 a0001c0004t0002g0147 a0001c0004t0002g0148 a0001c0004t0002g0156 a0001c0004t0002g0167 a0001c0004t0002g0189 a0001c0004t0002g0197 a0001c0004t0002g0201 a0001c0004t0002g0202 a0001c0004t0002g0203 a0001c0004t0002g0208 a0001c0004t0002g0224 a0001c0004t0002g0228 a0001c0004t0002g0232 a0001c0004t0002g0234 a0001c0004t0002g0235 a0001c0004t0002g0236 a0001c0004t0002g0243 a0001c0004t0002g0254 a0001c0004t0002g0256 a0001c0004t0002g0307 a0001c0004t0002g0318 a0001c0004t0002g0335 a0001c0012t0001g0004 a0007c0016t0002g0162 a0007c0016t0002g0163 a0009c0025t0002g0200	44	396	0.1111	8	c.957 others(23): Show c.957-444_957-437dupGTGTGTGT	BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding	6/7			chr20	TogoVar
BFSP1_chr20_17488905_17536379	17529064	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02615.hp1 HG02895.hp2 others(14): Show HG01361.hp2 HG02615.hp1 HG02895.hp2 HG02897.hp1 HG03098.hp2 HG03927.hp2 HG03942.hp1 HG04204.hp2 NA18612.hp1 NA18959.hp2 NA18974.hp2 NA19003.hp1 NA19007.hp2 NA19054.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0008 a0001c0012 others(3): Show a0001c0003 a0001c0008 a0001c0012 a0002c0001 a0002c0011 a0002c0013	a0001c0003t0001 a0001c0003t0003 a0001c0008t0001 others(4): Show a0001c0003t0001 a0001c0003t0003 a0001c0008t0001 a0001c0012t0001 a0002c0001t0002 a0002c0011t0002 a0002c0013t0001	a0001c0003t0001g0282 a0001c0003t0001g0283 a0001c0003t0003g0045 others(13): Show a0001c0003t0001g0282 a0001c0003t0001g0283 a0001c0003t0003g0045 a0001c0008t0001g0047 a0001c0008t0001g0048 a0001c0008t0001g0050 a0001c0008t0001g0053 a0001c0012t0001g0004 a0002c0001t0002g0054 a0002c0001t0002g0055 a0002c0001t0002g0288 a0002c0001t0002g0372 a0002c0011t0002g0049 a0002c0011t0002g0051 a0002c0011t0002g0052 a0002c0013t0001g0046	17	396	0.0429	8	c.377 others(25): Show c.377+1881_377+1888dupACACACAC	BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding	1/7			chr20	TogoVar
BFSP2_chr3_133395056_133480208	133409227	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01255.hp2 others(12): Show HG01081.hp1 HG01081.hp2 HG01255.hp2 HG02109.hp1 HG02273.hp1 HG02273.hp2 HG02683.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG03041.hp2 HG03098.hp1 HG03453.hp1 NA18906.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0002t0001g0049 a0001c0004t0001g0034	15	276	0.0544	8	c.489 others(25): Show c.489+8678_489+8685dupGTGTGTGT	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133446570	T T	TTATATAT others(1): Show TTATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18948.hp2 NA19064.hp1 HG03139.hp2 NA18948.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0177 a0001c0001t0001g0207 a0001c0001t0001g0080 a0001c0001t0001g0177 a0001c0001t0001g0207	3	276	0.0109	8	c.490 others(23): Show c.490-684_490-677dupTATATATA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133449982	A A	AAAGGAAG others(1): Show AAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00639.hp1 others(45): Show HG00438.hp1 HG00438.hp2 HG00639.hp1 HG01069.hp1 HG01099.hp1 HG01123.hp1 HG01258.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01943.hp2 HG01993.hp1 HG02083.hp1 HG02155.hp1 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02896.hp1 HG02896.hp2 HG03239.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18945.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18969.hp1 NA18986.hp1 NA18993.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp1 NA19043.hp2 NA19062.hp1 NA19088.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0144 others(45): Show a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0231 a0001c0001t0001g0249 a0001c0002t0001g0038 a0001c0002t0001g0044 a0001c0002t0001g0049 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0084 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0107 a0001c0002t0001g0120 a0001c0002t0001g0128 a0001c0002t0001g0131 a0001c0002t0001g0153 a0001c0002t0001g0158 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0197 a0001c0002t0001g0205 a0001c0002t0001g0210 a0001c0002t0001g0216 a0001c0002t0001g0226 a0001c0002t0001g0230 a0001c0002t0001g0243 a0001c0002t0001g0246 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255	48	276	0.1739	8	c.730 others(23): Show c.730-291_730-284dupAGGAAGGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BGN_chrX_153489980_153514546	153496952	A A	ACCCCCCA others(1): Show ACCCCCCAC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0112 a0001c0003t0001g0112	1	321	0.0031	8	c.-12 others(25): Show c.-12+1845_-12+1852dupCACCCCCC	BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
BGN_chrX_153489980_153514546	153496966	A A	ACCCCCCA others(1): Show ACCCCCCAC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0054 a0001c0003t0001g0054	1	321	0.0031	8	c.-12 others(25): Show c.-12+1860_-12+1861insCCCCCCCA	BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
BGN_chrX_153489980_153514546	153509061	C C	CTGTGTGT others(1): Show CTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp1 HG01884.hp1 HG00642.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0033 a0001c0003t0033	a0001c0003t0033g0021 a0001c0003t0033g0021	2	321	0.0062	8	c.65 others(17): Show c.654_*661dupGTGTGTGT	BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding	8/8	662	INFO_REALIGN_3_PRIME	chrX	TogoVar
BGN_chrX_153489980_153514546	153512613	A A	ACACACAC others(1): Show ACACACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0066 a0001c0003t0010g0066	1	321	0.0031	8	c.41 others(19): Show c.4168_*4169insCACACACT	BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding		3068		chrX	TogoVar
BHLHA9_chr17_1265444_1276815	1275841	A A	AGAGTGTG others(1): Show AGAGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02965.hp1 HG06807.hp1 others(1): Show HG02055.hp2 HG02965.hp1 HG06807.hp1 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0006 a0001c0005t0002 a0001c0003t0006 a0001c0005t0002	a0001c0003t0006g0000 a0001c0005t0002g0000 a0001c0003t0006g0000 a0001c0005t0002g0000	4	442	0.0091	8	c.45 others(19): Show c.4570_*4571insGAGTGTGT	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		4027		chr17	TogoVar
BHLHE40_chr3_4974437_4990323	4983829	G G	GGTGTGTG others(1): Show GGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02040.hp1 NA19000.hp1 NA19091.hp2 HG02040.hp1 NA19000.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0001 a0001c0001t0016g0001	3	436	0.0069	8	c.15 others(17): Show c.156_*163dupGTGTGTGT	BHLHE40	ENSG00000134107.5	transcript	ENST00000256495.4	protein_coding	5/5	164	INFO_REALIGN_3_PRIME	chr3	TogoVar
BHMT2_chr5_79064767_79095069	79087010	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG06807.hp1 NA19083.hp1 HG00609.hp2 HG06807.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0217 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0001g0217 a0001c0002t0002g0153 a0001c0002t0002g0154	3	390	0.0077	8	c.101 others(27): Show c.1011-1482_1011-1481insATATATAT	BHMT2	ENSG00000132840.10	transcript	ENST00000255192.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BHMT2_chr5_79064767_79095069	79088358	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01993.hp2 others(10): Show HG01168.hp2 HG01169.hp1 HG01993.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02622.hp2 HG02647.hp2 HG03130.hp1 HG03579.hp2 HG03834.hp1 NA19057.hp1 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001	a0001c0001t0003g0177 a0001c0002t0001g0112 a0001c0002t0001g0221 others(6): Show a0001c0001t0003g0177 a0001c0002t0001g0112 a0001c0002t0001g0221 a0001c0002t0002g0018 a0001c0002t0002g0122 a0001c0002t0002g0144 a0001c0002t0002g0150 a0001c0002t0002g0154 a0002c0003t0001g0044	13	390	0.0333	8	c.101 others(24): Show c.1011-102_1011-95dupTGTGTGTG	BHMT2	ENSG00000132840.10	transcript	ENST00000255192.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BICC1_chr10_58507872_58836435	58601140	T T	TAATATAT others(1): Show TAATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02922.hp2 HG03130.hp2 others(1): Show HG02027.hp1 HG02922.hp2 HG03130.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0009 a0002c0003t0016 a0002c0002t0001 a0002c0003t0009 a0002c0003t0016	a0002c0002t0001g0103 a0002c0003t0009g0117 a0002c0003t0016g0061 others(1): Show a0002c0002t0001g0103 a0002c0003t0009g0117 a0002c0003t0016g0061 a0002c0003t0016g0062	4	132	0.0303	8	c.191 others(27): Show c.191-19715_191-19714insAATATATA	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20			chr10	TogoVar
BICC1_chr10_58507872_58836435	58607317	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02976.hp1 NA18906.hp2 HG01167.hp1 HG02976.hp1 NA18906.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0008 a0003c0004 a0002c0002 a0002c0008 a0003c0004	a0002c0002t0009 a0002c0008t0045 a0003c0004t0047 a0002c0002t0009 a0002c0008t0045 a0003c0004t0047	a0002c0002t0009g0119 a0002c0008t0045g0118 a0003c0004t0047g0120 a0002c0002t0009g0119 a0002c0008t0045g0118 a0003c0004t0047g0120	3	132	0.0227	8	c.191 others(27): Show c.191-13518_191-13511dupTAAATAAA	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58718742	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG01928.hp1 others(8): Show HG00639.hp1 HG01109.hp1 HG01928.hp1 HG02109.hp2 HG02717.hp2 HG02895.hp2 HG03041.hp1 HG03041.hp2 HG03471.hp2 NA18983.hp2 NA19240.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0005c0009	a0001c0001t0002 a0001c0001t0024 a0001c0001t0038 others(7): Show a0001c0001t0002 a0001c0001t0024 a0001c0001t0038 a0001c0001t0040 a0001c0001t0042 a0001c0001t0051 a0002c0002t0006 a0002c0002t0017 a0002c0003t0023 a0005c0009t0031	a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0024g0022 others(8): Show a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0024g0022 a0001c0001t0038g0113 a0001c0001t0040g0126 a0001c0001t0042g0130 a0001c0001t0051g0098 a0002c0002t0006g0102 a0002c0002t0017g0026 a0002c0003t0023g0023 a0005c0009t0031g0012	11	132	0.0833	8	c.307 others(27): Show c.307+16616_307+16623dupTGTGTGTG	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICD1_chr12_32101847_32388633	32105400	C C	CTTTTTTT others(1): Show CTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00639.hp1 HG01169.hp2 others(15): Show HG00558.hp1 HG00639.hp1 HG01169.hp2 HG02056.hp2 HG02451.hp1 HG02486.hp2 HG02630.hp2 HG02717.hp2 HG02922.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp2 NA18522.hp1 NA18522.hp2 NA18989.hp2 NA18994.hp2 NA19007.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0002t0008	a0001c0001t0004g0132 a0001c0001t0004g0166 a0001c0001t0006g0152 others(15): Show a0001c0001t0004g0132 a0001c0001t0004g0166 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0157 a0001c0001t0006g0160 a0001c0001t0006g0162 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0007g0107 a0001c0001t0007g0250 a0001c0001t0007g0251 a0001c0001t0008g0123 a0001c0001t0008g0144 a0001c0001t0010g0133 a0001c0001t0010g0158 a0001c0001t0010g0161 a0001c0002t0008g0115	18	290	0.0621	8	c.-19 others(19): Show c.-1932_-1931insTTTTTTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		1446		chr12	TogoVar
BICD1_chr12_32101847_32388633	32106888	G G	GGAGCGAG others(1): Show GGAGCGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00597.hp2 others(107): Show HG00408.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18969.hp2 NA18971.hp2 NA18975.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18988.hp2 NA18989.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19057.hp1 NA19060.hp1 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0010	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(21): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0021 a0001c0002t0026 a0001c0002t0027 a0001c0002t0029 a0001c0002t0031 a0001c0003t0033 a0001c0004t0014 a0002c0010t0008	a0001c0001t0004g0019 a0001c0001t0004g0032 a0001c0001t0004g0114 others(107): Show a0001c0001t0004g0019 a0001c0001t0004g0032 a0001c0001t0004g0114 a0001c0001t0004g0130 a0001c0001t0004g0132 a0001c0001t0004g0134 a0001c0001t0004g0136 a0001c0001t0004g0142 a0001c0001t0004g0149 a0001c0001t0004g0166 a0001c0001t0004g0170 a0001c0001t0004g0287 a0001c0001t0006g0021 a0001c0001t0006g0023 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0105 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0160 a0001c0001t0006g0162 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0007g0005 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0107 a0001c0001t0007g0139 a0001c0001t0007g0146 a0001c0001t0007g0167 a0001c0001t0007g0250 a0001c0001t0007g0251 a0001c0001t0008g0108 a0001c0001t0008g0113 a0001c0001t0008g0119 a0001c0001t0008g0123 a0001c0001t0008g0125 a0001c0001t0008g0129 a0001c0001t0008g0137 a0001c0001t0008g0140 a0001c0001t0008g0144 a0001c0001t0010g0003 a0001c0001t0010g0014 a0001c0001t0010g0018 a0001c0001t0010g0103 a0001c0001t0010g0133 a0001c0001t0010g0143 a0001c0001t0010g0158 a0001c0001t0010g0161 a0001c0001t0014g0030 a0001c0001t0014g0031 a0001c0001t0015g0020 a0001c0001t0015g0025 a0001c0001t0015g0042 a0001c0001t0016g0037 a0001c0001t0016g0041 a0001c0001t0016g0154 a0001c0001t0028g0006 a0001c0001t0030g0029 a0001c0001t0032g0033 a0001c0001t0034g0128 a0001c0002t0004g0002 a0001c0002t0004g0007 a0001c0002t0004g0009 a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0017 a0001c0002t0004g0106 a0001c0002t0004g0117 a0001c0002t0004g0171 a0001c0002t0005g0001 a0001c0002t0005g0008 a0001c0002t0005g0011 a0001c0002t0005g0012 a0001c0002t0005g0104 a0001c0002t0005g0110 a0001c0002t0005g0111 a0001c0002t0005g0112 a0001c0002t0005g0116 a0001c0002t0005g0118 a0001c0002t0005g0124 a0001c0002t0005g0126 a0001c0002t0005g0127 a0001c0002t0005g0135 a0001c0002t0005g0138 a0001c0002t0005g0141 a0001c0002t0005g0151 a0001c0002t0005g0248 a0001c0002t0005g0252 a0001c0002t0005g0290 a0001c0002t0007g0010 a0001c0002t0007g0022 a0001c0002t0007g0028 a0001c0002t0007g0150 a0001c0002t0008g0115 a0001c0002t0008g0145 a0001c0002t0021g0169 a0001c0002t0021g0249 a0001c0002t0026g0013 a0001c0002t0027g0120 a0001c0002t0029g0109 a0001c0002t0031g0024 a0001c0003t0033g0122 a0001c0004t0014g0004 a0002c0010t0008g0256	110	290	0.3793	8	c.-43 others(17): Show c.-436_-429dupAGAGCGAG	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/10	428	INFO_REALIGN_3_PRIME	chr12	TogoVar

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