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
ABCF3_chr3_184181199_184199005	184191739	G G	GTTCCTTT others(5): Show GTTCCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02818.hp2 HG02895.hp2 HG01884.hp1 HG02818.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	3	416	0.0072	12	c.156 others(29): Show c.1569+486_1569+487insCCTTTTTTTTTT	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABCF3_chr3_184181199_184199005	184197845	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA19074.hp2 NA18953.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	416	0.0048	12	c.41 others(23): Show c.4147_*4148insTGTGTGTGTGTG	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding		3841		chr3	TogoVar
ABCG1_chr21_42214140_42302244	42268362	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02145.hp1 HG02559.hp1 others(1): Show HG00280.hp2 HG02145.hp1 HG02559.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0030	a0001c0001t0001g0290 a0001c0001t0004g0182 a0001c0001t0009g0085 others(1): Show a0001c0001t0001g0290 a0001c0001t0004g0182 a0001c0001t0009g0085 a0001c0001t0030g0312	4	354	0.0113	12	c.287 others(29): Show c.287-2692_287-2681dupTGTGTGTGTGTG	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42268388	T T	TGTGTGTG others(5): Show TGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18522.hp1 HG02809.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0269 a0001c0001t0014g0061 a0001c0001t0004g0269 a0001c0001t0014g0061	2	354	0.0057	12	c.287 others(29): Show c.287-2681_287-2680insTGTGTGTGCGCG	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42268388	T T	TGTGTGTG others(5): Show TGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG01071.hp2 others(11): Show HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01433.hp1 HG02004.hp2 HG02735.hp2 HG03139.hp2 HG04204.hp2 NA18964.hp1 NA18983.hp2 NA19067.hp1 NA19074.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0017	a0001c0001t0001g0142 a0001c0001t0001g0254 a0001c0001t0002g0134 others(10): Show a0001c0001t0001g0142 a0001c0001t0001g0254 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0220 a0001c0001t0002g0293 a0001c0001t0003g0118 a0001c0001t0003g0130 a0001c0001t0003g0149 a0001c0001t0003g0187 a0001c0001t0007g0007 a0001c0001t0007g0046 a0001c0001t0017g0005	14	354	0.0396	12	c.287 others(29): Show c.287-2681_287-2680insTGTGTGTGTGCG	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42293072	C C	CACACACC others(5): Show CACACACCACACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(225): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18948.hp2 NA18952.hp1 NA18955.hp1 NA18956.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18987.hp1 NA18989.hp1 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19085.hp1 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0002t0002 a0001c0002t0004 a0001c0002t0016 a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 a0001c0004t0003 a0001c0006t0004 a0001c0007t0016 a0004c0009t0003	a0001c0001t0001g0096 a0001c0001t0001g0155 a0001c0001t0001g0200 others(220): Show a0001c0001t0001g0096 a0001c0001t0001g0155 a0001c0001t0001g0200 a0001c0001t0001g0328 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0090 a0001c0001t0002g0095 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0203 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0266 a0001c0001t0002g0273 a0001c0001t0002g0277 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0299 a0001c0001t0002g0304 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0003g0002 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0079 a0001c0001t0003g0084 a0001c0001t0003g0088 a0001c0001t0003g0100 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0109 a0001c0001t0003g0116 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0125 a0001c0001t0003g0130 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0138 a0001c0001t0003g0149 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0163 a0001c0001t0003g0174 a0001c0001t0003g0187 a0001c0001t0003g0193 a0001c0001t0003g0196 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0217 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0239 a0001c0001t0003g0241 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0261 a0001c0001t0003g0298 a0001c0001t0003g0310 a0001c0001t0003g0320 a0001c0001t0003g0326 a0001c0001t0003g0346 a0001c0001t0004g0003 a0001c0001t0004g0086 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0098 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0154 a0001c0001t0004g0158 a0001c0001t0004g0169 a0001c0001t0004g0182 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0272 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0283 a0001c0001t0004g0311 a0001c0001t0004g0313 a0001c0001t0004g0319 a0001c0001t0004g0325 a0001c0001t0004g0329 a0001c0001t0004g0337 a0001c0001t0004g0339 a0001c0001t0005g0001 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0013 a0001c0001t0005g0015 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0030 a0001c0001t0005g0040 a0001c0001t0005g0051 a0001c0001t0005g0060 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0007g0007 a0001c0001t0007g0019 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0031 a0001c0001t0007g0032 a0001c0001t0007g0035 a0001c0001t0007g0046 a0001c0001t0007g0055 a0001c0001t0007g0058 a0001c0001t0009g0085 a0001c0001t0009g0275 a0001c0001t0009g0322 a0001c0001t0009g0323 a0001c0001t0009g0333 a0001c0001t0010g0144 a0001c0001t0010g0167 a0001c0001t0010g0292 a0001c0001t0010g0301 a0001c0001t0010g0302 a0001c0001t0010g0303 a0001c0001t0012g0140 a0001c0001t0012g0141 a0001c0001t0012g0307 a0001c0001t0012g0315 a0001c0001t0013g0294 a0001c0001t0013g0295 a0001c0001t0013g0296 a0001c0001t0014g0061 a0001c0001t0014g0062 a0001c0001t0017g0005 a0001c0001t0021g0008 a0001c0001t0023g0023 a0001c0001t0024g0101 a0001c0001t0025g0070 a0001c0001t0026g0318 a0001c0001t0029g0262 a0001c0001t0030g0312 a0001c0001t0031g0077 a0001c0002t0002g0078 a0001c0002t0002g0094 a0001c0002t0002g0143 a0001c0002t0002g0270 a0001c0002t0002g0282 a0001c0002t0002g0324 a0001c0002t0002g0330 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0004g0004 a0001c0002t0004g0274 a0001c0002t0016g0343 a0001c0003t0003g0212 a0001c0003t0003g0259 a0001c0003t0005g0041 a0001c0003t0005g0048 a0001c0003t0005g0052 a0001c0003t0007g0054 a0001c0004t0003g0074 a0001c0004t0003g0126 a0001c0004t0003g0127 a0001c0006t0004g0321 a0001c0007t0016g0347 a0004c0009t0003g0258	228	354	0.6441	12	c.165 others(31): Show c.1653+1427_1653+1428insTACACACCACAC	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42295333	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0044 a0001c0003t0006g0044	1	354	0.0028	12	c.177 others(29): Show c.1772+706_1772+717dupAAAAAAAAAAAA	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG2_chr4_88085269_88163639	88098645	G G	GAGATAGA others(5): Show GAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00609.hp2 others(77): Show HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01123.hp1 HG01123.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp2 HG01516.hp2 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02300.hp1 HG02486.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG03453.hp1 HG03486.hp1 HG03669.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18963.hp1 NA18963.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18988.hp2 NA18989.hp1 NA18995.hp1 NA19000.hp1 NA19003.hp2 NA19005.hp2 NA19011.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0003 a0004c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0029 others(73): Show a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0270 a0001c0001t0001g0324 a0001c0001t0001g0329 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0006g0150 a0001c0001t0014g0116 a0002c0002t0001g0002 a0002c0002t0001g0057 a0002c0002t0001g0060 a0002c0002t0002g0001 a0002c0002t0002g0009 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0047 a0002c0002t0002g0052 a0002c0002t0002g0061 a0002c0002t0002g0069 a0002c0002t0002g0187 a0002c0002t0002g0245 a0003c0003t0001g0117 a0003c0003t0001g0180 a0003c0003t0001g0214 a0003c0003t0001g0218 a0003c0003t0001g0287 a0003c0003t0001g0291 a0003c0003t0001g0292 a0003c0003t0001g0294 a0003c0003t0001g0297 a0003c0003t0001g0312 a0003c0003t0003g0006 a0003c0003t0003g0250 a0003c0003t0003g0252 a0003c0003t0003g0253 a0003c0003t0003g0262 a0003c0003t0003g0310 a0003c0003t0003g0313 a0004c0006t0001g0239 a0004c0006t0001g0240	80	350	0.2286	12	c.149 others(29): Show c.1492+667_1492+678dupATCTATCTATCT	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	12/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88098685	T T	TAGATAGA others(5): Show TAGATAGATAGAC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03540.hp2 others(2): Show HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0001c0001t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0148 a0001c0001t0004g0336 a0001c0001t0004g0337 others(2): Show a0001c0001t0001g0148 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0338 a0002c0002t0001g0073	5	350	0.0143	12	c.149 others(29): Show c.1492+638_1492+639insGTCTATCTATCT	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	12/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115236	C C	CTCTCTCT others(5): Show CTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18947.hp2 HG04184.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0211 a0001c0001t0014g0116 a0001c0001t0001g0211 a0001c0001t0014g0116	2	350	0.0057	12	c.842 others(27): Show c.842-179_842-178insCAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88147016	G G	GGAAAGAA others(5): Show GGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA20905.hp1 HG02647.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0094 a0001c0001t0001g0095	2	350	0.0057	12	c.-19 others(29): Show c.-19-7014_-19-7003dupTTTCTTTCTTTC	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	1/15			chr4	TogoVar
ABCG4_chr11_119144052_119167653	119147464	G G	GAAAATAA others(5): Show GAAAATAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG03942.hp1 NA18953.hp1 others(2): Show HG02027.hp2 HG03942.hp1 NA18953.hp1 NA18967.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0015 a0001c0001t0003 a0001c0005t0015	a0001c0001t0003g0003 a0001c0001t0003g0030 a0001c0005t0015g0101 a0001c0001t0003g0003 a0001c0001t0003g0030 a0001c0005t0015g0101	5	388	0.0129	12	c.-19 others(23): Show c.-1912_-1911insAAAATAAAGAAA	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding		1587		chr11	TogoVar
ABCG4_chr11_119144052_119167653	119147464	G G	GGAAAGAA others(5): Show GGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02723.hp1 HG02559.hp1 HG02723.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0002 a0003c0004t0002 a0002c0002t0002 a0003c0004t0002	a0002c0002t0002g0010 a0003c0004t0002g0007 a0002c0002t0002g0010 a0003c0004t0002g0007	2	388	0.0052	12	c.-19 others(23): Show c.-1912_-1911insGAAAGAAAGAAA	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding		1587		chr11	TogoVar
ABCG4_chr11_119144052_119167653	119147518	A A	AAAGAGAA others(5): Show AAAGAGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	388	0.0026	12	c.-18 others(23): Show c.-1858_-1857insAAGAGAAGGAAG	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding		1533		chr11	TogoVar
ABCG4_chr11_119144052_119167653	119147522	A A	AAAGAAGA others(5): Show AAAGAAGAAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	388	0.0026	12	c.-18 others(23): Show c.-1854_-1853insAAGAAGAAGAAG	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding		1529		chr11	TogoVar
ABCG5_chr2_43807472_43843839	43808964	T T	TACACACA others(5): Show TACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 NA18522.hp1 HG02055.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0109 a0001c0001t0007g0154 a0001c0001t0007g0109 a0001c0001t0007g0154	2	330	0.0061	12	c.41 others(23): Show c.4140_*4151dupGTGTGTGTGTGT	ABCG5	ENSG00000138075.14	transcript	ENST00000405322.8	protein_coding		3507		chr2	TogoVar
ABCG8_chr2_43833971_43887988	43884376	A A	AAAATAAA others(5): Show AAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01978.hp1 HG02083.hp2 others(11): Show HG00735.hp2 HG01978.hp1 HG02083.hp2 HG02135.hp1 HG02818.hp2 HG03098.hp2 HG03209.hp2 HG03471.hp1 NA18957.hp1 NA18962.hp1 NA18970.hp1 NA19009.hp2 NA19030.hp1 NA19090.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0003 a0003c0002 others(3): Show a0001c0001 a0002c0003 a0003c0002 a0003c0022 a0004c0007 a0006c0005	a0001c0001t0001 a0001c0001t0009 a0001c0001t0057 others(7): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0057 a0001c0001t0059 a0002c0003t0006 a0003c0002t0003 a0003c0002t0004 a0003c0022t0013 a0004c0007t0055 a0006c0005t0003	a0001c0001t0001g0099 a0001c0001t0009g0007 a0001c0001t0009g0122 others(11): Show a0001c0001t0001g0099 a0001c0001t0009g0007 a0001c0001t0009g0122 a0001c0001t0057g0107 a0001c0001t0059g0136 a0002c0003t0006g0229 a0003c0002t0003g0172 a0003c0002t0003g0286 a0003c0002t0004g0021 a0003c0022t0013g0261 a0004c0007t0055g0013 a0006c0005t0003g0219 a0006c0005t0003g0244 a0006c0005t0003g0259	14	318	0.0440	12	c.64 others(23): Show c.6463_*6464insAAATAAATAAAT	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding		1389		chr2	TogoVar
ABCG8_chr2_43833971_43887988	43887143	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01255.hp2 HG01261.hp1 others(8): Show HG01167.hp2 HG01255.hp2 HG01261.hp1 HG01891.hp1 HG02083.hp1 HG02280.hp2 HG04199.hp1 NA18939.hp2 NA18974.hp2 NA18998.hp1 NA19085.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0008 a0002c0003 others(4): Show a0001c0001 a0001c0008 a0002c0003 a0002c0004 a0002c0026 a0003c0002 a0005c0006	a0001c0001t0075 a0001c0008t0054 a0002c0003t0002 others(6): Show a0001c0001t0075 a0001c0008t0054 a0002c0003t0002 a0002c0004t0011 a0002c0026t0095 a0003c0002t0005 a0003c0002t0110 a0005c0006t0044 a0005c0006t0082	a0001c0001t0075g0090 a0001c0008t0054g0141 a0002c0003t0002g0231 others(8): Show a0001c0001t0075g0090 a0001c0008t0054g0141 a0002c0003t0002g0231 a0002c0004t0011g0042 a0002c0004t0011g0190 a0002c0026t0095g0192 a0003c0002t0005g0021 a0003c0002t0005g0189 a0003c0002t0110g0283 a0005c0006t0044g0277 a0005c0006t0082g0281	11	318	0.0346	12	c.92 others(23): Show c.9230_*9231insAAAAAAAAAAAA	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding		4156		chr2	TogoVar
ABHD12B_chr14_50867053_50909970	50869564	T T	TGATGTAT others(5): Show TGATGTATTTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0353 a0004c0007t0001g0353	1	376	0.0027	12	c.-26 others(23): Show c.-2611_-2610insGATGTATTTGTA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		2488		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870908	C C	CAAGAAAG others(5): Show CAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	376	0.0027	12	c.-12 others(23): Show c.-1267_-1266insAAGAAAGAAAGA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1144		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(5): Show GAAAGAAAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 NA18994.hp1 HG02965.hp2 NA18994.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0004 a0001c0006 a0002c0004	a0001c0006t0001 a0002c0004t0002 a0001c0006t0001 a0002c0004t0002	a0001c0006t0001g0092 a0002c0004t0002g0336 a0001c0006t0001g0092 a0002c0004t0002g0336	2	376	0.0053	12	c.-11 others(23): Show c.-1192_-1191insAAAGAAAGAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAGA others(5): Show GAAAGAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0082 a0002c0002t0002g0082	1	376	0.0027	12	c.-11 others(23): Show c.-1192_-1191insAAAGAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAGA others(5): Show GAAAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	376	0.0027	12	c.-11 others(23): Show c.-1192_-1191insAAAGAGAGAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAGAAAGA others(5): Show GAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	376	0.0027	12	c.-11 others(23): Show c.-1192_-1191insAGAAAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50871026	A A	AAAGAAAG others(5): Show AAAGAAAGAAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0052 a0002c0002t0002g0052	1	376	0.0027	12	c.-11 others(23): Show c.-1149_-1148insAAGAAAGAAAGG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1026		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50871026	A A	AAAGAAAG others(5): Show AAAGAAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0355 a0002c0002t0002g0355	1	376	0.0027	12	c.-11 others(23): Show c.-1149_-1148insAAGAAAGGAAGG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1026		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50871026	A A	AAAGGAAG others(5): Show AAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG06807.hp2 HG03471.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0316 a0001c0006t0001g0059 a0001c0001t0001g0316 a0001c0006t0001g0059	2	376	0.0053	12	c.-11 others(23): Show c.-1149_-1148insAAGGAAGGAAGG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1026		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50882373	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(16): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG01099.hp2 HG01952.hp2 HG02071.hp1 HG02071.hp2 NA18945.hp1 NA18954.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18984.hp1 NA18994.hp1 NA18999.hp2 NA19077.hp1 NA19081.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0006 a0002c0004 a0010c0016 a0001c0006 a0002c0004 a0010c0016	a0001c0006t0001 a0002c0004t0002 a0010c0016t0002 a0001c0006t0001 a0002c0004t0002 a0010c0016t0002	a0001c0006t0001g0268 a0001c0006t0001g0278 a0001c0006t0001g0284 others(14): Show a0001c0006t0001g0268 a0001c0006t0001g0278 a0001c0006t0001g0284 a0002c0004t0002g0008 a0002c0004t0002g0015 a0002c0004t0002g0089 a0002c0004t0002g0090 a0002c0004t0002g0091 a0002c0004t0002g0128 a0002c0004t0002g0147 a0002c0004t0002g0225 a0002c0004t0002g0240 a0002c0004t0002g0269 a0002c0004t0002g0282 a0002c0004t0002g0336 a0002c0004t0002g0354 a0010c0016t0002g0266	19	376	0.0505	12	c.486 others(27): Show c.486+757_486+768dupTTTTTTTTTTTT	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50887211	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG01884.hp1 others(14): Show HG00280.hp2 HG00408.hp2 HG01884.hp1 HG01891.hp1 HG02004.hp2 HG02148.hp1 HG02273.hp2 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02886.hp2 HG03516.hp1 HG06807.hp1 NA19065.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0001c0006 a0002c0002 others(3): Show a0001c0001 a0001c0006 a0002c0002 a0002c0004 a0005c0008 a0008c0015	a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 a0002c0002t0005 a0002c0004t0006 a0002c0004t0010 a0005c0008t0002 a0008c0015t0001	a0001c0001t0001g0032 a0001c0001t0004g0318 a0001c0006t0001g0295 others(14): Show a0001c0001t0001g0032 a0001c0001t0004g0318 a0001c0006t0001g0295 a0002c0002t0005g0022 a0002c0002t0005g0170 a0002c0002t0005g0179 a0002c0002t0005g0245 a0002c0004t0006g0169 a0002c0004t0010g0205 a0005c0008t0002g0151 a0005c0008t0002g0152 a0005c0008t0002g0242 a0005c0008t0002g0283 a0005c0008t0002g0285 a0005c0008t0002g0305 a0005c0008t0002g0321 a0008c0015t0001g0315	17	376	0.0452	12	c.700 others(27): Show c.700+534_700+545dupAAAAAAAAAAAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
ABHD12_chr20_25295214_25395835	25315760	A A	ACCTTTCC others(5): Show ACCTTTCCTGACT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0263 a0001c0003t0002g0263	1	316	0.0032	12	c.574 others(27): Show c.574-802_574-791dupAGTCAGGAAAGG	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	5/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25359423	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19240.hp1 HG03098.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0224 a0001c0001t0004g0225	2	316	0.0063	12	c.192 others(31): Show c.192-20084_192-20073dupTTTTTTTTTTTT	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	1/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25360227	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0147 a0001c0002t0002g0147	1	316	0.0032	12	c.192 others(31): Show c.192-20888_192-20877dupAAAAAAAAAAAA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	1/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25375694	T T	TAACAAAG others(5): Show TAACAAAGGACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp1 HG02809.hp1 others(1): Show HG02145.hp2 HG02559.hp1 HG02809.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0005t0004 a0001c0001t0004 a0001c0005t0004	a0001c0001t0004g0267 a0001c0001t0004g0291 a0001c0005t0004g0293 others(1): Show a0001c0001t0004g0267 a0001c0001t0004g0291 a0001c0005t0004g0293 a0001c0005t0004g0296	4	316	0.0127	12	c.191 others(31): Show c.191+14818_191+14819insGTGTCCTTTGTT	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	1/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25387589	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02145.hp2 NA18980.hp1 others(1): Show HG00544.hp1 HG02145.hp2 NA18980.hp1 NA18985.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0002 a0001c0005t0004 a0001c0003t0002 a0001c0005t0004	a0001c0003t0002g0244 a0001c0003t0002g0245 a0001c0003t0002g0264 others(1): Show a0001c0003t0002g0244 a0001c0003t0002g0245 a0001c0003t0002g0264 a0001c0005t0004g0296	4	316	0.0127	12	c.191 others(29): Show c.191+2923_191+2924insTTTTTTTTTTTT	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	1/12			chr20	TogoVar
ABHD14A_chr3_51970064_51986196	51973507	T T	TTTTTTTT others(5): Show TTTTTTTTTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG02071.hp1 others(11): Show HG00423.hp2 HG00558.hp2 HG02071.hp1 HG02083.hp1 HG02523.hp2 HG04228.hp2 NA18940.hp2 NA18951.hp1 NA18959.hp1 NA18967.hp1 NA18973.hp2 NA19000.hp1 NA19079.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0031	14	344	0.0407	12	c.-16 others(23): Show c.-1629_-1628insTTTTTTTTTTTC	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding		1556		chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51973508	T T	TTTTTTTT others(5): Show TTTTTTTTTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02723.hp2 HG02970.hp1 others(5): Show HG02280.hp2 HG02723.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 NA18906.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0037 a0002c0002t0002g0006 a0002c0002t0002g0037	8	344	0.0233	12	c.-16 others(23): Show c.-1628_-1627insTTTTTTTTTTTC	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding		1555		chr3	TogoVar
ABHD14B_chr3_51963515_51979049	51973507	T T	TTTTTTTT others(5): Show TTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG02071.hp1 others(11): Show HG00423.hp1 HG00558.hp2 HG02071.hp1 HG02083.hp2 HG02523.hp2 HG04228.hp1 NA18940.hp1 NA18951.hp2 NA18959.hp2 NA18967.hp2 NA18973.hp2 NA19000.hp2 NA19079.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047	14	324	0.0432	12	c.-29 others(27): Show c.-29+446_-29+457dupGAAAAAAAAAAA	ABHD14B	ENSG00000114779.20	transcript	ENST00000361143.10	protein_coding	1/3			chr3	TogoVar
ABHD14B_chr3_51963515_51979049	51973508	T T	TTTTTTTT others(5): Show TTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02723.hp1 HG02970.hp2 others(5): Show HG02280.hp1 HG02723.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03209.hp2 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	8	324	0.0247	12	c.-29 others(27): Show c.-29+456_-29+457insGAAAAAAAAAAA	ABHD14B	ENSG00000114779.20	transcript	ENST00000361143.10	protein_coding	1/3			chr3	TogoVar
ABHD16B_chr20_63856498_63867988	63860663	A A	AAGGGGAA others(5): Show AAGGGGAACCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp2 others(72): Show HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00673.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp2 HG03017.hp2 HG03654.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18943.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp2 NA18995.hp1 NA18997.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19080.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA20905.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0009	a0001c0001 a0003c0003 a0007c0015 others(1): Show a0001c0001 a0003c0003 a0007c0015 a0009c0020	a0001c0001t0001 a0003c0003t0001 a0007c0015t0001 others(1): Show a0001c0001t0001 a0003c0003t0001 a0007c0015t0001 a0009c0020t0001	a0001c0001t0001g0000 a0003c0003t0001g0000 a0007c0015t0001g0000 others(1): Show a0001c0001t0001g0000 a0003c0003t0001g0000 a0007c0015t0001g0000 a0009c0020t0001g0000	75	398	0.1884	12	c.-87 others(21): Show c.-878_-877insAGGGGAACCCAC	ABHD16B	ENSG00000183260.7	transcript	ENST00000369916.5	protein_coding		834		chr20	TogoVar
ABHD17B_chr9_71860152_71916193	71894087	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	186	0.0054	12	c.-4+ others(29): Show c.-4+16535_-4+16546dupTTTTTTTTTTTT	ABHD17B	ENSG00000107362.14	transcript	ENST00000333421.7	protein_coding	1/3			chr9	TogoVar
ABHD17C_chr15_80690310_80760621	80695065	T T	TGGCGGCG others(5): Show TGGCGGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00642.hp2 others(31): Show HG00099.hp1 HG00280.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01123.hp2 HG01255.hp1 HG01261.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG02040.hp1 HG02257.hp1 HG03490.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04184.hp2 HG04228.hp1 NA18946.hp1 NA18953.hp2 NA18964.hp2 NA18985.hp1 NA18986.hp1 NA18991.hp2 NA18993.hp2 NA19030.hp2 NA19043.hp2 NA19084.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0174 a0001c0001t0001g0184 a0001c0001t0001g0185 others(31): Show a0001c0001t0001g0174 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0003g0188 a0001c0001t0003g0223 a0001c0001t0008g0212	34	360	0.0944	12	c.-36 others(21): Show c.-365_-364insGGCGGCGGCGGC	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding		244		chr15	TogoVar
ABHD17C_chr15_80690310_80760621	80695065	T T	TGGCGGCG others(5): Show TGGCGGCGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	360	0.0028	12	c.-36 others(21): Show c.-365_-364insGGCGGCGGGGGC	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding		244		chr15	TogoVar
ABHD17C_chr15_80690310_80760621	80695096	G G	GCGGGAGC others(5): Show GCGGGAGCGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02922.hp2 HG02572.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0133 a0001c0001t0001g0134	2	360	0.0056	12	c.-33 others(21): Show c.-334_-333insCGGGAGCGGGAA	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding		213		chr15	TogoVar
ABHD17C_chr15_80690310_80760621	80705333	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01255.hp2 HG01496.hp1 others(17): Show HG01175.hp1 HG01255.hp2 HG01496.hp1 HG01884.hp2 HG02055.hp2 HG02486.hp1 HG02572.hp1 HG02622.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03453.hp1 HG03688.hp2 HG06807.hp2 NA19043.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0127 others(16): Show a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0152 a0001c0001t0001g0300 a0001c0001t0003g0171 a0001c0001t0006g0002 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0039 a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0043	20	360	0.0556	12	c.590 others(29): Show c.590+9337_590+9348dupTGTGTGTGTGTG	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD17C_chr15_80690310_80760621	80713354	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG02559.hp1 others(12): Show HG00544.hp2 HG00609.hp2 HG02559.hp1 HG03139.hp2 HG03486.hp1 NA18939.hp2 NA18942.hp2 NA18953.hp1 NA18964.hp1 NA18967.hp2 NA18978.hp1 NA19007.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0013 a0001c0001t0001g0255 a0001c0001t0001g0256 others(11): Show a0001c0001t0001g0013 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0005g0128 a0001c0001t0005g0149 a0001c0001t0005g0181	15	360	0.0417	12	c.590 others(31): Show c.590+17352_590+17363dupTTTTTTTTTTTT	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD17C_chr15_80690310_80760621	80713900	C C	CCACACAC others(5): Show CCACACACACACA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	360	0.0028	12	c.590 others(31): Show c.590+17910_590+17921dupCACACACACACA	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD17C_chr15_80690310_80760621	80723138	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03834.hp1 NA18947.hp2 others(1): Show HG00280.hp1 HG03834.hp1 NA18947.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0202 a0001c0001t0004g0076 a0001c0001t0004g0089 others(1): Show a0001c0001t0001g0202 a0001c0001t0004g0076 a0001c0001t0004g0089 a0001c0001t0004g0090	4	360	0.0111	12	c.591 others(31): Show c.591-26357_591-26346dupGTGTGTGTGTGT	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD17C_chr15_80690310_80760621	80726501	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0233 a0001c0002t0001g0233	1	360	0.0028	12	c.591 others(31): Show c.591-22995_591-22984dupTTTTTTTTTTTT	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD18_chr4_127960406_128044953	127966702	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0003 a0001c0005t0011g0003	1	344	0.0029	12	c.-18 others(29): Show c.-18+1121_-18+1132dupAAAAAAAAAAAA	ABHD18	ENSG00000164074.17	transcript	ENST00000645843.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
ABHD18_chr4_127960406_128044953	128033524	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG01358.hp2 others(21): Show HG00438.hp1 HG00558.hp1 HG01358.hp2 HG02055.hp1 HG02273.hp2 NA18942.hp2 NA18951.hp2 NA18954.hp2 NA18957.hp2 NA18970.hp2 NA18974.hp2 NA18981.hp2 NA18983.hp1 NA18988.hp2 NA18989.hp2 NA18994.hp2 NA19009.hp2 NA19056.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19085.hp2 NA19090.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0025 a0002c0002t0001 a0002c0002t0014 others(7): Show a0001c0001t0025 a0002c0002t0001 a0002c0002t0014 a0002c0002t0020 a0002c0002t0021 a0002c0002t0029 a0002c0002t0030 a0002c0002t0032 a0002c0002t0033 a0002c0002t0050	a0001c0001t0025g0263 a0002c0002t0001g0270 a0002c0002t0001g0272 others(21): Show a0001c0001t0025g0263 a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0278 a0002c0002t0001g0290 a0002c0002t0001g0297 a0002c0002t0001g0301 a0002c0002t0001g0305 a0002c0002t0001g0310 a0002c0002t0001g0313 a0002c0002t0001g0316 a0002c0002t0001g0320 a0002c0002t0001g0328 a0002c0002t0001g0333 a0002c0002t0014g0309 a0002c0002t0020g0282 a0002c0002t0021g0304 a0002c0002t0029g0292 a0002c0002t0029g0306 a0002c0002t0030g0331 a0002c0002t0032g0285 a0002c0002t0033g0323 a0002c0002t0033g0325 a0002c0002t0050g0274	24	344	0.0698	12	c.134 others(31): Show c.1344-2229_1344-2218dupTTTTTTTTTTTT	ABHD18	ENSG00000164074.17	transcript	ENST00000645843.2	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr4	TogoVar

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