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 per page.

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
HFM1_chr1_91255766_91409837	91277899	T T	TTATATAT others(31): Show TTATATATATAATATATACTTATATATTATATATGCTTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(257): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0016 a0001c0018 a0002c0003 a0003c0009 a0003c0012 a0004c0006 a0005c0011 a0006c0010 a0008c0017	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0004t0001 a0001c0007t0001 a0001c0016t0001 a0001c0018t0001 a0002c0003t0001 a0003c0009t0001 a0003c0012t0001 a0004c0006t0001 a0005c0011t0001 a0006c0010t0001 a0008c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 others(255): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0004g0011 a0001c0002t0001g0007 a0001c0004t0001g0154 a0001c0004t0001g0155 a0001c0004t0001g0156 a0001c0004t0001g0157 a0001c0004t0001g0158 a0001c0004t0001g0159 a0001c0004t0001g0160 a0001c0004t0001g0162 a0001c0004t0001g0163 a0001c0004t0001g0164 a0001c0004t0001g0165 a0001c0004t0001g0166 a0001c0004t0001g0167 a0001c0004t0001g0169 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0172 a0001c0004t0001g0173 a0001c0004t0001g0174 a0001c0004t0001g0175 a0001c0007t0001g0187 a0001c0007t0001g0189 a0001c0007t0001g0192 a0001c0016t0001g0353 a0001c0018t0001g0133 a0002c0003t0001g0003 a0002c0003t0001g0177 a0003c0009t0001g0346 a0003c0012t0001g0141 a0004c0006t0001g0188 a0004c0006t0001g0190 a0004c0006t0001g0191 a0005c0011t0001g0151 a0006c0010t0001g0244 a0006c0010t0001g0245 a0008c0017t0001g0254	260	362	0.7182	38	c.339 others(55): Show c.3392-838_3392-837insTAAGCATATATAATATATAAGTATATAT TATATATATA	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding	30/38			chr1	TogoVar
HFM1_chr1_91255766_91409837	91277906	T T	TATAATAT others(31): Show TATAATATATACTTATATATTATATATGCTTATATATAC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02135.hp2 HG02523.hp2 others(6): Show HG02083.hp2 HG02135.hp2 HG02523.hp2 NA18951.hp2 NA18953.hp2 NA18977.hp2 NA19006.hp2 NA19054.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0091 a0001c0005t0002g0143 a0001c0005t0002g0144 others(6): Show a0001c0001t0002g0091 a0001c0005t0002g0143 a0001c0005t0002g0144 a0001c0005t0002g0145 a0001c0005t0002g0146 a0001c0005t0002g0147 a0001c0005t0002g0148 a0001c0005t0002g0149 a0001c0005t0002g0150	9	362	0.0249	38	c.339 others(55): Show c.3392-845_3392-844insGTATATATAAGCATATATAATATATAAG TATATATTAT	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding	30/38			chr1	TogoVar
HGFAC_chr4_3436968_3454486	3440301	G G	GGCCGGGG others(31): Show GGCCGGGGCCTTGGGGGCTGGGTTGAGTCGGAAGAGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	454	0.0022	38	c.-17 others(49): Show c.-1701_-1700insGCCGGGGCCTTGGGGGCTGGGTTGAGTCGGAAGA GGCA	HGFAC	ENSG00000109758.9	transcript	ENST00000382774.8	protein_coding		1666		chr4	TogoVar
HGF_chr7_81694010_81775047	81697198	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 NA18955.hp2 HG00609.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0156 a0001c0001t0002g0001 a0001c0001t0002g0156	2	272	0.0074	38	c.53 others(49): Show c.5382_*5383insTATATATATATATATATATATATATATATATATA TATA	HGF	ENSG00000019991.18	transcript	ENST00000222390.11	protein_coding		1811		chr7	TogoVar
HGF_chr7_81694010_81775047	81722854	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp1 HG02280.hp2 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0093 a0001c0002t0007g0095 a0001c0002t0007g0093 a0001c0002t0007g0095	2	272	0.0074	38	c.116 others(57): Show c.1169-2008_1169-2007insGTGTATATATATATATATATATATAT ATATATATATAT	HGF	ENSG00000019991.18	transcript	ENST00000222390.11	protein_coding	9/17			chr7	TogoVar
HHAT_chr1_210323902_210681290	210466025	G G	GGAATTGC others(31): Show GGAATTGCAAGGAATGAATTGCAAGGAATTGCAAGGAAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02647.hp1 HG03130.hp2 others(2): Show HG00738.hp2 HG02647.hp1 HG03130.hp2 HG03831.hp1 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0014 a0001c0001 a0001c0002 a0007c0014	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0007c0014t0003	a0001c0001t0002g0069 a0001c0001t0004g0210 a0001c0001t0007g0070 others(2): Show a0001c0001t0002g0069 a0001c0001t0004g0210 a0001c0001t0007g0070 a0001c0002t0001g0049 a0007c0014t0003g0051	5	268	0.0187	38	c.100 others(57): Show c.1007+1385_1007+1422dupGAATTGCAAGGAATTGCAAGGAATGA ATTGCAAGGAAT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210466097	G G	GGAATTGC others(31): Show GGAATTGCAAGGAATGAATTGCAAGGAATTGCAAGGAAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02622.hp2 others(3): Show HG02257.hp1 HG02280.hp2 HG02622.hp2 HG03540.hp1 HG03831.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0018	a0001c0001t0001g0144 a0001c0001t0002g0071 a0001c0001t0003g0138 others(3): Show a0001c0001t0001g0144 a0001c0001t0002g0071 a0001c0001t0003g0138 a0001c0001t0005g0073 a0001c0001t0005g0203 a0001c0001t0018g0164	6	268	0.0224	38	c.100 others(57): Show c.1007+1456_1007+1457insGAATTGCAAGGAATTGCAAGGAATGA ATTGCAAGGAAT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HIKESHI_chr11_86297240_86350943	86308297	T T	TAAAATAT others(31): Show TAAAATATATATTATATATAAAATATATATTACATATAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00642.hp1 others(24): Show HG00140.hp2 HG00280.hp1 HG00642.hp1 HG00741.hp2 HG01099.hp1 HG01192.hp2 HG01358.hp2 HG01361.hp1 HG01952.hp1 HG02080.hp1 HG02258.hp2 HG02451.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02886.hp1 HG03486.hp1 HG04184.hp1 NA18969.hp2 NA18970.hp2 NA18978.hp1 NA18980.hp2 NA18997.hp2 NA19000.hp1 NA19078.hp1 NA19086.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0079 a0001c0001t0003g0014 a0001c0001t0003g0056 others(23): Show a0001c0001t0001g0079 a0001c0001t0003g0014 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0226 a0001c0001t0003g0227	27	398	0.0678	38	c.268 others(55): Show c.268+1817_268+1818insAATATATATTATATATAAAATATATATT ACATATAAAA	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIKESHI_chr11_86297240_86350943	86308342	T T	TTATATAT others(31): Show TTATATATAAAATATATATTACATATAAAATATATATTA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18960.hp2 NA19054.hp2 NA18952.hp1 NA18960.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0200 a0001c0001t0001g0228 a0001c0001t0003g0215 a0001c0001t0001g0200 a0001c0001t0001g0228 a0001c0001t0003g0215	3	398	0.0075	38	c.268 others(55): Show c.268+1866_268+1867insTAAAATATATATTACATATAAAATATAT ATTATATATA	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIKESHI_chr11_86297240_86350943	86318303	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	398	0.0025	38	c.268 others(57): Show c.268+11841_268+11842insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HINFP_chr11_119116580_119141059	119129490	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA19067.hp1 NA20805.hp2 NA18941.hp1 NA19067.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0184 a0001c0001t0003g0051 a0001c0001t0003g0184	3	404	0.0074	38	c.182 others(55): Show c.182-1220_182-1219insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	HINFP	ENSG00000172273.13	transcript	ENST00000350777.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIP1_chr7_75528298_75743941	75595283	C C	CCTTCCTT others(31): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTTTCTCT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0058 a0001c0005t0001g0058	1	254	0.0039	38	c.185 others(55): Show c.185-2770_185-2769insAGAGAAAAAGAAAGAAAGGAAGGAAGGA AGGAAGGAAG	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	2/30			chr7	TogoVar
HIVEP1_chr6_12007312_12169999	12078719	C C	CACACACA others(31): Show CACACACACACACACACACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01943.hp2 HG01981.hp1 others(1): Show HG01109.hp1 HG01943.hp2 HG01981.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0225 a0002c0002t0001g0227 others(1): Show a0002c0002t0001g0093 a0002c0002t0001g0225 a0002c0002t0001g0227 a0002c0002t0001g0341	4	344	0.0116	38	c.41- others(55): Show c.41-10464_41-10463insCACACACACACACACACACACATATATA TATATATATA	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
HK2_chr2_74829127_74898359	74882605	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG02083.hp2 others(10): Show HG00741.hp1 HG01069.hp2 HG02083.hp2 HG02135.hp2 HG02615.hp1 HG02976.hp1 HG03225.hp2 HG06807.hp1 NA18940.hp1 NA18968.hp1 NA18987.hp1 NA19030.hp1 NA19066.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0001c0014 others(3): Show a0001c0001 a0001c0005 a0001c0014 a0002c0004 a0002c0007 a0003c0003	a0001c0001t0002 a0001c0001t0007 a0001c0005t0005 others(6): Show a0001c0001t0002 a0001c0001t0007 a0001c0005t0005 a0001c0014t0043 a0002c0004t0004 a0002c0004t0009 a0002c0004t0019 a0002c0007t0035 a0003c0003t0003	a0001c0001t0002g0287 a0001c0001t0007g0322 a0001c0005t0005g0043 others(10): Show a0001c0001t0002g0287 a0001c0001t0007g0322 a0001c0005t0005g0043 a0001c0014t0043g0342 a0002c0004t0004g0013 a0002c0004t0004g0138 a0002c0004t0004g0168 a0002c0004t0004g0331 a0002c0004t0009g0337 a0002c0004t0019g0339 a0002c0007t0035g0007 a0003c0003t0003g0016 a0003c0003t0003g0205	13	394	0.0330	38	c.183 others(55): Show c.1839+382_1839+383insTATATATATATATATATATATATATATA TATATATATA	HK2	ENSG00000159399.10	transcript	ENST00000290573.7	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
HMBOX1_chr8_28885395_29058262	29003555	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp1 HG02056.hp2 others(8): Show HG00544.hp1 HG00621.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02717.hp2 HG02735.hp2 NA18956.hp2 NA18972.hp1 NA18973.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011	a0001c0001t0001g0218 a0001c0001t0002g0196 a0001c0001t0002g0214 others(8): Show a0001c0001t0001g0218 a0001c0001t0002g0196 a0001c0001t0002g0214 a0001c0001t0002g0234 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0270 a0001c0001t0005g0162 a0001c0001t0006g0330 a0001c0001t0011g0224	11	344	0.0320	38	c.587 others(55): Show c.587-5495_587-5494insATATATATATATATATATATATATATAT ATATATATAT	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
HMGB2_chr4_173326376_173339358	173331387	T T	TATATATG others(31): Show TATATATGTATATATATATACATATATACGTATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0030 a0001c0001t0022g0030	1	370	0.0027	38	c.69 others(47): Show c.692_*693insGTATATATACGTATATATGTATATATATATACATAT AT	HMGB2	ENSG00000164104.12	transcript	ENST00000296503.10	protein_coding	5/5	692		chr4	TogoVar
HMGN1_chr21_39337315_39354088	39337369	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(24): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG01069.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01978.hp1 HG02004.hp1 HG02145.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02895.hp2 HG03098.hp1 HG03195.hp1 HG03942.hp1 NA18949.hp2 NA18974.hp2 NA19006.hp1 NA19006.hp2 NA19012.hp1 NA19030.hp1 NA19064.hp2 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0020 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0015 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0004g0004 a0001c0001t0004g0021 a0001c0001t0004g0053 a0001c0001t0005g0095 a0001c0001t0006g0006 a0001c0001t0007g0003 a0001c0001t0008g0019 a0001c0001t0009g0103 a0001c0001t0017g0100 a0001c0001t0020g0086 a0002c0002t0001g0025	27	414	0.0652	38	c.57 others(49): Show c.5742_*5743insATATATATATATATATATATATATATATATATAT ATAT	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4945		chr21	TogoVar
HMOX1_chr22_35376096_35399207	35383438	A A	AAAAAAAG others(31): Show AAAAAAAGATAAAGAGAAATGAAAAAAAGAAAAGAAAAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	384	0.0026	38	c.144 others(53): Show c.144+212_144+213insAAAAAAGATAAAGAGAAATGAAAAAAAGAA AAGAAAAT	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	2/4			chr22	TogoVar
HMOX1_chr22_35376096_35399207	35386339	T T	TTAAGCAA others(31): Show TTAAGCAATCCTCCAGCCTTAGCCTCCCAAAGTGCAGGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	384	0.0026	38	c.145 others(53): Show c.145-345_145-308dupTAAGCAATCCTCCAGCCTTAGCCTCCCAAA GTGCAGGG	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
HNMT_chr2_137959473_138021364	138018708	C C	CATTGCCA others(31): Show CATTGCCATAACTTTTGCCAGTGTATTTCTTGTACATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0007 a0001c0001t0018g0007	1	332	0.0030	38	c.45 others(49): Show c.4578_*4579insATTGCCATAACTTTTGCCAGTGTATTTCTTGTAC ATTA	HNMT	ENSG00000150540.14	transcript	ENST00000280097.5	protein_coding		2345		chr2	TogoVar
HNRNPD_chr4_82347498_82378991	82347971	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18975.hp1 NA18997.hp1 NA18947.hp1 NA18975.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0025 a0001c0001t0002g0143 a0001c0001t0003g0010 a0001c0001t0002g0025 a0001c0001t0002g0143 a0001c0001t0003g0010	3	332	0.0090	38	c.62 others(49): Show c.6213_*6214insTATATATATATATATATATATATATATATATATA TATA	HNRNPD	ENSG00000138668.20	transcript	ENST00000313899.12	protein_coding		4526		chr4	TogoVar
HNRNPD_chr4_82347498_82378991	82347971	G G	GTATGTAT others(31): Show GTATGTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 NA19030.hp2 HG03098.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0111 a0001c0001t0002g0113	2	332	0.0060	38	c.62 others(49): Show c.6213_*6214insTATATATATATATATATATATATATATATATATA CATA	HNRNPD	ENSG00000138668.20	transcript	ENST00000313899.12	protein_coding		4526		chr4	TogoVar
HNRNPU_chr1_244845297_244869543	244865897	T T	TTTATTAC others(31): Show TTTATTACTTTTTTTATTTTATTTTTTTTATTATTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	346	0.0029	38	c.-15 others(49): Show c.-1591_-1590insCAAAAATAATAAAAAAAATAAAATAAAAAAAGTA ATAA	HNRNPU	ENSG00000153187.21	transcript	ENST00000640218.2	protein_coding		1355		chr1	TogoVar
HOMER1_chr5_79367636_79519134	79379314	A A	ATATATAA others(31): Show ATATATAAATATTTATATATATTTATATATTTTATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	290	0.0035	38	c.877 others(55): Show c.877-3155_877-3118dupATATATAAAATATATAAATATATATAAA TATTTATATA	HOMER1	ENSG00000152413.15	transcript	ENST00000334082.11	protein_coding	8/8			chr5	TogoVar
HOMER2_chr15_82843983_82957720	82860978	A A	AGAGAGAG others(31): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0338 a0002c0002t0001g0338	1	348	0.0029	38	c.388 others(55): Show c.388-1844_388-1843insCCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTC	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	4/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868523	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	348	0.0029	38	c.295 others(55): Show c.295-4265_295-4264insTATATATATATATATATATATATATATA TATATATATA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868541	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	348	0.0029	38	c.295 others(55): Show c.295-4283_295-4282insAAAATATATATATATATATATATATATA TATATATATA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868541	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	348	0.0029	38	c.295 others(55): Show c.295-4283_295-4282insAAAAAAAATATATATATATATATATATA TATATATATA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOOK1_chr1_59809949_59881322	59812576	G G	GAAAATAT others(31): Show GAAAATATGGAAGATTAGAAAAATAGTCATTTTTCATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0119 a0001c0001t0005g0119	1	252	0.0040	38	c.-25 others(49): Show c.-2542_-2541insAAAATATGGAAGATTAGAAAAATAGTCATTTTTC ATTT	HOOK1	ENSG00000134709.13	transcript	ENST00000371208.5	protein_coding		2372		chr1	TogoVar
HOPX_chr4_56642998_56686296	56685870	G G	GTTATATA others(31): Show GTTATATATAATGTATTATATATAATGTATTATATTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01106.hp1 HG01256.hp2 others(14): Show HG01081.hp1 HG01106.hp1 HG01256.hp2 HG01258.hp1 HG01516.hp1 HG01517.hp2 HG02135.hp1 HG04115.hp2 NA18955.hp1 NA18963.hp1 NA18979.hp1 NA18986.hp1 NA18994.hp2 NA19066.hp2 NA19067.hp1 NA19076.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0039 others(11): Show a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0248 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0005g0301	17	376	0.0452	38	c.-47 others(49): Show c.-4700_-4699insTACAATATAATACATTATATATAATACATTATAT ATAA	HOPX	ENSG00000171476.23	transcript	ENST00000420433.6	protein_coding		4575		chr4	TogoVar
HOXA3_chr7_27102010_27157583	27140001	C C	CAGAGAGA others(31): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0281 a0001c0005t0002g0281	1	326	0.0031	38	c.-39 others(53): Show c.-390+81_-390+82insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	2/5			chr7	TogoVar
HOXA5_chr7_27136052_27148681	27140001	C C	CAGAGAGA others(31): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	398	0.0025	38	c.18 others(49): Show c.1833_*1834insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	HOXA5	ENSG00000106004.5	transcript	ENST00000222726.4	protein_coding		1050		chr7	TogoVar
HOXB3_chr17_48543870_48595241	48594278	T T	TTATTTTA others(31): Show TTATTTTAACTTTGGATGAGAAGATCAAAGATAGAGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0299	1	374	0.0027	38	c.-46 others(49): Show c.-4616_-4579dupCAACTCTATCTTTGATCTTCTCATCCAAAGTTAA AATA	HOXB3	ENSG00000120093.12	transcript	ENST00000498678.6	protein_coding		4038		chr17	TogoVar
HPN_chr19_35036721_35071573	35048082	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	384	0.0026	38	c.17- others(53): Show c.17-1207_17-1206insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAAAAGGA	HPN	ENSG00000105707.15	transcript	ENST00000672452.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
HPRT1_chrX_134455165_134505668	134492048	C C	CACACACA others(31): Show CACACACACACACACACACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	276	0.0036	38	c.403 others(55): Show c.403-1459_403-1458insCACACACACACACACACACACATATATA TATATATATA	HPRT1	ENSG00000165704.15	transcript	ENST00000298556.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
HPS5_chr11_18273676_18327140	18323641	T T	TTTTTTTT others(31): Show TTTTTTTTAGGGGGGGGGTGGGTTGGGGGAGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0020 a0001c0003t0001g0020	1	372	0.0027	38	c.-17 others(49): Show c.-1746_-1745insCCCCACCCCTCCCCCAACCCACCCCCCCCCTAAA AAAA	HPS5	ENSG00000110756.18	transcript	ENST00000349215.8	protein_coding		1502		chr11	TogoVar
HRCT1_chr9_35901202_35912136	35911225	T T	TTTACCTT others(31): Show TTTACCTTAGAATTGAAAATGTATATCCTTTTATGGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	430	0.0023	38	c.45 others(49): Show c.4590_*4591insTTACCTTAGAATTGAAAATGTATATCCTTTTATG GGCC	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding		4090		chr9	TogoVar
HRH3_chr20_62209960_62225278	62213030	G G	GGGGTAAG others(31): Show GGGGTAAGGAGAGCGGGGATGGGGGAGGGAGAGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	38	c.29 others(49): Show c.2975_*2976insTCCCCACTCTCCCTCCCCCATCCCCGCTCTCCTT ACCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1929		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213170	G G	GGGAGGGA others(31): Show GGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAGGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp2 others(56): Show HG00099.hp1 HG00099.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG01106.hp2 HG01243.hp2 HG01361.hp1 HG01496.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02572.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG03098.hp1 HG03486.hp1 HG03540.hp1 HG03669.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18979.hp1 NA18980.hp2 NA19000.hp1 NA19007.hp1 NA19043.hp1 NA19054.hp1 NA19057.hp1 NA19058.hp2 NA19081.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0048 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0015 a0001c0002t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0049 a0001c0003t0001g0007 a0001c0008t0001g0039	59	368	0.1603	38	c.28 others(49): Show c.2835_*2836insATCCCTGCTCTCCCTTCCCCCATCCCCGCTCTCC CTCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1789		chr20	TogoVar
HS2ST1_chr1_86909635_87114982	86976704	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	154	0.0065	38	c.124 others(57): Show c.124+61561_124+61562insATATATATATATATATATATATATAT ATATATATATAT	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HS3ST3B1_chr17_14296081_14354404	14329367	A A	AAGAAGGA others(31): Show AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	432	0.0023	38	c.555 others(57): Show c.555-15660_555-15659insGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGA	HS3ST3B1	ENSG00000125430.9	transcript	ENST00000360954.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
HS6ST2_chrX_132621015_132963629	132772791	A A	ATATAATA others(31): Show ATATAATATAAAATATAATATATATTATATTATATATTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02083.hp1 HG03239.hp1 HG01891.hp1 HG02083.hp1 HG03239.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0002 a0003c0010t0001 a0001c0001t0002 a0003c0010t0001	a0001c0001t0002g0125 a0001c0001t0002g0143 a0003c0010t0001g0199 a0001c0001t0002g0125 a0001c0001t0002g0143 a0003c0010t0001g0199	3	201	0.0149	38	c.948 others(57): Show c.948-64335_948-64298dupGAATATATAATATAATATATATTATA TTTTATATTATA	HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	2/4			chrX	TogoVar
HS6ST3_chr13_96085107_96844562	96304713	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02055.hp2 NA18947.hp1 HG01496.hp1 HG02055.hp2 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0001t0012 a0001c0004t0003 a0001c0001t0004 a0001c0001t0012 a0001c0004t0003	a0001c0001t0004g0098 a0001c0001t0012g0087 a0001c0004t0003g0104 a0001c0001t0004g0098 a0001c0001t0012g0087 a0001c0004t0003g0104	3	116	0.0259	38	c.707 others(59): Show c.707+213145_707+213146insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HSD17B14_chr19_48808018_48841491	48826528	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18970.hp2 NA18969.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0203 a0001c0001t0001g0088 a0001c0001t0001g0203	2	394	0.0051	38	c.369 others(55): Show c.369+5139_369+5140insATATATATATATATATATATATATATAT ATATATATAT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48826542	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	394	0.0025	38	c.369 others(55): Show c.369+5125_369+5126insGTGTATATATATATATATATATATATAT ATATATATAT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48826542	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	394	0.0025	38	c.369 others(55): Show c.369+5125_369+5126insGTATATATATATATATATATATATATAT ATATATATAT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48835007	G G	GAGCCTGG others(31): Show GAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGA	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18906.hp1 HG03834.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0048 a0002c0002t0001g0344 a0001c0001t0001g0048 a0002c0002t0001g0344	2	394	0.0051	38	c.128 others(53): Show c.128-650_128-649insTCCCAGCCCCTCCTCCCTCAGACCCAGGAG TCCAGGCT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B3_chr9_96230306_96307176	96272373	A A	ATCTCTCT others(31): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18953.hp1 HG00544.hp2 NA18953.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0140 a0002c0002t0002g0353 a0001c0001t0001g0140 a0002c0002t0002g0353	2	374	0.0054	38	c.202 others(57): Show c.202-17431_202-17430insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0313 a0001c0001t0002g0313	1	374	0.0027	38	c.202 others(57): Show c.202-17463_202-17462insTATATATATAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0319 a0001c0001t0002g0319	1	374	0.0027	38	c.202 others(57): Show c.202-17463_202-17462insTATATATAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar

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