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
EZR_chr6_158760748_158824368	158803540	TATATGTA others(89): Show TATATGTATATATATATATATATATATATATATATATATATACATATATA TATATATATATATATACATATATATATATATATATACATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00741.hp2 others(12): Show HG00140.hp1 HG00140.hp2 HG00741.hp2 HG01123.hp2 HG02258.hp1 HG02735.hp2 HG03486.hp2 HG03540.hp1 HG04199.hp2 HG04204.hp2 NA18970.hp1 NA18974.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 a0001c0001t0019	a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 others(12): Show a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0225 a0001c0001t0002g0230 a0001c0001t0002g0236 a0001c0001t0002g0249 a0001c0001t0002g0260 a0001c0001t0006g0264 a0001c0001t0016g0246 a0001c0001t0019g0189	15	312	0.0481	-96	c.13- others(113): Show c.13-14265_13-14170delGTATGTATATGTATATATATATATATAT ATGTATATATATATATATATATATATGTATATATATATATATATATATAT ATATATATATATACATAT	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar
FAF1_chr1_50432028_50965267	50931906	TAATAATA others(89): Show TAATAATAATAATAATAATAATAGCACATGAAAGACTGACTCCCATGATT CAATTACCTCCCCCCAGGTCCCTCCCACAACATGTGGCAATTCTGGG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	190	0.0053	-96	c.45+ others(113): Show c.45+27765_45+27860delCCCAGAATTGCCACATGTTGTGGGAGGG ACCTGGGGGGAGGTAATTGAATCATGGGAGTCAGTCTTTCATGTGCTATT ATTATTATTATTATTATT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	1/18			chr1	TogoVar
FAM171A1_chr10_15206643_15376289	15263860	TATCTATC others(89): Show TATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCCG TCCATCCTTCCGTCCGTCCGTCCGTCCATCCATCCATCCAACCATCC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0245 a0001c0001t0003g0245	1	303	0.0033	-96	c.419 others(113): Show c.419-9077_419-8982delGGATGGTTGGATGGATGGATGGACGGAC GGACGGACGGAAGGATGGACGGATAGATAGATAGATAGATAGATAGATAG ATAGATAGATAGATAGAT	FAM171A1	ENSG00000148468.17	transcript	ENST00000378116.9	protein_coding	3/7			chr10	TogoVar
FMN1_chr15_32760544_33199714	32949958	TATATATA others(89): Show TATATATACACACATATATATACACACACATATATATACACATACACATA TATATATACACATATATATATATATACACATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0024 a0024	a0024c0060 a0024c0060	a0024c0060t0007 a0024c0060t0007	a0024c0060t0007g0191 a0024c0060t0007g0191	1	196	0.0051	-96	c.313 others(117): Show c.3138+14053_3138+14148delGTGTATATATATATATATGTGTAT ATATATATATATGTGTATATATATATGTGTATGTGTATATATATGTGTGT GTATATATATGTGTGTATATAT	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	9/20			chr15	TogoVar
FNIP1_chr5_131636714_131802017	131785050	TATATATA others(89): Show TATATATATCATATATATGATATATATGACATATATATATGATATATATG ACTATATATATATCATATATATGATATATATGACTATATATATAGTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00609.hp1 others(114): Show HG00408.hp2 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01243.hp2 HG01257.hp2 HG01496.hp2 HG01516.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02451.hp1 HG02615.hp1 HG02630.hp1 HG02735.hp2 HG02738.hp1 HG03041.hp1 HG03195.hp1 HG03239.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18988.hp2 NA18991.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19075.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0009	a0001c0001 a0001c0004 a0001c0013 others(3): Show a0001c0001 a0001c0004 a0001c0013 a0005c0009 a0006c0010 a0009c0018	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(11): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0004t0001 a0001c0013t0001 a0005c0009t0014 a0005c0009t0015 a0006c0010t0001 a0009c0018t0007	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(114): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0289 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0007g0229 a0001c0001t0007g0236 a0001c0001t0007g0240 a0001c0001t0007g0263 a0001c0001t0007g0296 a0001c0001t0007g0299 a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0008g0059 a0001c0001t0008g0074 a0001c0001t0008g0301 a0001c0001t0008g0324 a0001c0001t0010g0168 a0001c0001t0010g0178 a0001c0001t0010g0213 a0001c0001t0010g0214 a0001c0001t0020g0231 a0001c0001t0021g0012 a0001c0001t0022g0205 a0001c0001t0023g0228 a0001c0004t0001g0060 a0001c0004t0001g0061 a0001c0004t0001g0232 a0001c0004t0001g0249 a0001c0004t0001g0257 a0001c0004t0001g0297 a0001c0013t0001g0171 a0005c0009t0014g0050 a0005c0009t0015g0051 a0006c0010t0001g0203 a0006c0010t0001g0291 a0009c0018t0007g0017	117	328	0.3567	-96	c.92+ others(113): Show c.92+11684_92+11779delGACTATATATATAGTCATATATATCATA TATATGATATATATATAGTCATATATATCATATATATATGTCATATATAT CATATATATGATATATAT	FNIP1	ENSG00000217128.13	transcript	ENST00000510461.6	protein_coding	1/17			chr5	TogoVar
FOXN3_chr14_89151177_89422233	89361153	CCTCCAGC others(89): Show CCTCCAGCACTACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACC ACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	230	0.0044	-96	c.544 others(115): Show c.544-10441_544-10346delCTGGAGGTGGTGGTGGTGGAGGTGGT GGTGGTGGAGGTGGTGGTGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTGG TGCTGGAGGTAGTGCTGGAG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FRK_chr6_115926149_116065891	115958634	GGAAAGAA others(89): Show GGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01099.hp1 others(13): Show HG00741.hp1 HG00741.hp2 HG01099.hp1 HG01106.hp1 HG01361.hp1 HG01496.hp2 HG01952.hp1 HG01981.hp1 HG02300.hp1 HG02486.hp2 HG03130.hp1 HG03471.hp1 HG03834.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0001c0001t0018 a0001c0001t0037 others(6): Show a0001c0001t0008 a0001c0001t0018 a0001c0001t0037 a0001c0001t0039 a0001c0001t0047 a0001c0001t0050 a0002c0002t0001 a0002c0002t0005 a0002c0002t0054	a0001c0001t0008g0001 a0001c0001t0008g0205 a0001c0001t0008g0211 others(12): Show a0001c0001t0008g0001 a0001c0001t0008g0205 a0001c0001t0008g0211 a0001c0001t0008g0213 a0001c0001t0008g0214 a0001c0001t0018g0056 a0001c0001t0018g0115 a0001c0001t0018g0116 a0001c0001t0037g0114 a0001c0001t0039g0180 a0001c0001t0047g0186 a0001c0001t0050g0181 a0002c0002t0001g0083 a0002c0002t0005g0172 a0002c0002t0054g0023	16	274	0.0584	-96	c.800 others(113): Show c.800-2120_800-2025delTTTCTTTCTTTCTTTCTTTCTTTCTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTCTTTCTTTC	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	4/7			chr6	TogoVar
FTCD_chr21_46131779_46160579	46134437	CAGGTTTA others(89): Show CAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTA GGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 NA18944.hp2 HG00423.hp1 NA18944.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0012 a0001c0002 a0005c0012	a0001c0002t0009 a0005c0012t0009 a0001c0002t0009 a0005c0012t0009	a0001c0002t0009g0046 a0005c0012t0009g0014 a0001c0002t0009g0046 a0005c0012t0009g0014	2	230	0.0087	-96	c.24 others(107): Show c.2454_*2549delAAACCTGACCCTCACCCTCACCCTCACCCTCACC CTCACCCTGACCCTAAACCTGACCCTCACCCTCACCCTGACCCTGACCCT GACCCTAAACCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2341		chr21	TogoVar
FTO_chr16_53699156_54126941	54122080	GCGCCGGG others(89): Show GCGCCGGGAGCCCCGCCGTCCATGGAGGCACTGTCCCAGGGTGTGCCGTC GCCCTGAGCCCCGCCGTCCATGGAGGCACTGTCCCAGGGTGTGCCGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0019 a0001c0001t0030g0019	1	194	0.0052	-96	c.10 others(109): Show c.10166_*10261delCGCCGGGAGCCCCGCCGTCCATGGAGGCACTG TCCCAGGGTGTGCCGTCGCCCTGAGCCCCGCCGTCCATGGAGGCACTGTC CCAGGGTGTGCCGT	FTO	ENSG00000140718.22	transcript	ENST00000471389.6	protein_coding		140		chr16	TogoVar
FUT9_chr6_96010974_96220612	96035847	TATTATGT others(89): Show TATTATGTTTATTATATTAATATAATATAATACATTATGTTTATTATATT AATATAATATAATACATTATGTTTATTATATTAATATAATATAATAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00438.hp2 others(141): Show HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG01099.hp1 HG01109.hp1 HG01169.hp1 HG01261.hp2 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03831.hp1 HG03831.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0042 a0001c0001t0043 a0001c0001t0048 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0002c0002t0006 a0002c0002t0010 a0002c0002t0071 a0002c0002t0072 a0003c0004t0007	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0023 others(139): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0121 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0077 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0097 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0130 a0001c0001t0002g0135 a0001c0001t0002g0179 a0001c0001t0002g0220 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0260 a0001c0001t0002g0276 a0001c0001t0002g0307 a0001c0001t0003g0029 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0043 a0001c0001t0003g0054 a0001c0001t0003g0056 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0076 a0001c0001t0003g0087 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0248 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0004g0036 a0001c0001t0004g0057 a0001c0001t0004g0064 a0001c0001t0004g0094 a0001c0001t0004g0129 a0001c0001t0004g0289 a0001c0001t0004g0315 a0001c0001t0005g0015 a0001c0001t0005g0096 a0001c0001t0005g0144 a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0310 a0001c0001t0007g0016 a0001c0001t0007g0019 a0001c0001t0007g0020 a0001c0001t0007g0049 a0001c0001t0007g0110 a0001c0001t0007g0313 a0001c0001t0009g0183 a0001c0001t0011g0040 a0001c0001t0011g0045 a0001c0001t0011g0104 a0001c0001t0011g0210 a0001c0001t0012g0083 a0001c0001t0014g0090 a0001c0001t0015g0109 a0001c0001t0016g0078 a0001c0001t0016g0136 a0001c0001t0019g0041 a0001c0001t0020g0308 a0001c0001t0021g0006 a0001c0001t0021g0316 a0001c0001t0022g0240 a0001c0001t0022g0306 a0001c0001t0024g0014 a0001c0001t0025g0246 a0001c0001t0026g0051 a0001c0001t0026g0052 a0001c0001t0028g0274 a0001c0001t0028g0275 a0001c0001t0042g0126 a0001c0001t0043g0086 a0001c0001t0048g0120 a0001c0001t0052g0035 a0001c0001t0054g0250 a0001c0001t0055g0122 a0001c0001t0057g0050 a0001c0001t0058g0282 a0001c0001t0062g0082 a0001c0001t0063g0187 a0001c0001t0064g0245 a0001c0001t0065g0079 a0001c0001t0067g0301 a0001c0001t0068g0025 a0002c0002t0006g0005 a0002c0002t0006g0111 a0002c0002t0006g0281 a0002c0002t0006g0287 a0002c0002t0006g0288 a0002c0002t0010g0021 a0002c0002t0010g0140 a0002c0002t0010g0312 a0002c0002t0071g0053 a0002c0002t0072g0138 a0003c0004t0007g0018	144	320	0.4500	-96	c.-98 others(115): Show c.-98+19765_-98+19860delTTATGTTTATTATATTAATATAATAT AATACATTATGTTTATTATATTAATATAATATAATACATTATGTTTATTA TATTAATATAATATAATACA	FUT9	ENSG00000172461.11	transcript	ENST00000302103.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GALNT9_chr12_132191372_132334589	132231402	GTGCCACA others(89): Show GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAC	G G	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0015 a0001c0007t0001g0015	1	183	0.0055	-96	c.107 others(117): Show c.1077+16412_1077+16507delGTAGGGGCTCCACGCTGTCTCCTC TGTCGCCCCATCGAGTGTGTGGCACTAGGGACTCCACGCTGTCTCCTCTG TCGCCCCATCGAGTGTGTGGCA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132231636	CCCCTAGT others(89): Show CCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp2 HG01192.hp1 HG00639.hp1 HG01099.hp2 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0090 a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0090	3	183	0.0164	-96	c.107 others(117): Show c.1077+16178_1077+16273delACTCCACGCTGTCTCCTCTGTCGC CCCATCGAGTGTGTGGCACTAGGGACTCCACGCTGTCTCCTCTGTCGCCC CATCGAGTGTGTGGCACTAGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132231927	GTGCCACA others(89): Show GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTAC	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02257.hp2 HG02280.hp2 others(8): Show HG01346.hp1 HG02257.hp2 HG02280.hp2 HG03041.hp2 HG03209.hp1 HG03225.hp2 HG03579.hp1 NA18966.hp1 NA19009.hp1 NA19012.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0094 a0001c0002t0001g0069 a0001c0002t0001g0071 others(8): Show a0001c0001t0001g0094 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0079 a0001c0002t0001g0151 a0001c0003t0001g0030 a0001c0003t0001g0128 a0001c0004t0001g0106 a0001c0005t0001g0018 a0001c0005t0001g0037 a0001c0005t0001g0088	11	183	0.0601	-96	c.107 others(117): Show c.1077+15887_1077+15982delGTAGGGACTCCACACTGTCTCCTC TGTCGCCCCATCGAGTGTGTGGCACTAGGGACTCCATGCTGTCTCCTCTG TCGCCCCATCGAGTGTGTGGCA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232302	CCCCTAGT others(89): Show CCCCTAGTGCTACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18906.hp2 HG03209.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0001 a0001c0001t0011 a0001c0002t0001	a0001c0001t0011g0050 a0001c0002t0001g0152 a0001c0001t0011g0050 a0001c0002t0001g0152	2	183	0.0109	-96	c.107 others(117): Show c.1077+15512_1077+15607delACTCCACACTGTCTCCTCTGTCGC CCCATCGAGTGTGTGGCACTAGGGACTCCACGCTGTCTCCTCTGTCGCCC CATCGAGTGTGTAGCACTAGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232487	CGTGGAGT others(89): Show CGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0015 a0001c0041t0015	a0001c0041t0015g0178 a0001c0041t0015g0178	1	183	0.0055	-96	c.107 others(117): Show c.1077+15327_1077+15422delACTGTCTCCTCTGTCGCCCCATCG AGTGTGTGGCACTAGGGACTCCACGCTGTCTCCTCTGTCGCCCCATCGAG TGTGTGGCACTAGGGACTCCAC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232596	GTGCCACA others(89): Show GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTAC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02965.hp2 HG02976.hp2 others(9): Show HG01109.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03209.hp2 HG03492.hp1 HG03579.hp2 NA18522.hp2 NA18747.hp2 NA18953.hp2 NA18961.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0025	a0001c0001t0011 a0001c0002t0001 a0001c0003t0001 others(5): Show a0001c0001t0011 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0010t0001 a0001c0025t0012	a0001c0001t0011g0050 a0001c0002t0001g0053 a0001c0002t0001g0163 others(9): Show a0001c0001t0011g0050 a0001c0002t0001g0053 a0001c0002t0001g0163 a0001c0003t0001g0006 a0001c0003t0001g0012 a0001c0003t0001g0165 a0001c0004t0001g0056 a0001c0005t0001g0026 a0001c0006t0001g0098 a0001c0010t0001g0085 a0001c0010t0001g0089 a0001c0025t0012g0048	12	183	0.0656	-96	c.107 others(117): Show c.1077+15218_1077+15313delGTAGGGACTCCACACTGTCTCCTC TGTCGCCCCATCGAGTGTGTGGCACTAGGGACTCCACGCTGTCTCCTCTG TCGCCCCATCGAGTGTGTGGCA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233446	CGTGGAGT others(89): Show CGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGAGGAGACAGT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0015 a0001c0041t0015	a0001c0041t0015g0178 a0001c0041t0015g0178	1	183	0.0055	-96	c.107 others(117): Show c.1077+14368_1077+14463delACTGTCTCCTCTGTCACCCCATCG AGTGTGTGGCACTAGGGACTCCACGCTGTCTCCTCTCTCACGCCATCGAG TGTGTGGCACTAGGGACTCCAC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233453	TCCCTAGT others(89): Show TCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGTGACAGAGGAGACAGTGTGGAGC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02717.hp2 others(1): Show HG02109.hp1 HG02257.hp2 HG02717.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0014 others(1): Show a0001c0001 a0001c0003 a0001c0014 a0001c0019	a0001c0001t0001 a0001c0003t0001 a0001c0014t0003 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0014t0003 a0001c0019t0003	a0001c0001t0001g0059 a0001c0003t0001g0030 a0001c0014t0003g0146 others(1): Show a0001c0001t0001g0059 a0001c0003t0001g0030 a0001c0014t0003g0146 a0001c0019t0003g0145	4	183	0.0219	-96	c.107 others(117): Show c.1077+14361_1077+14456delGCTCCACACTGTCTCCTCTGTCAC CCCATCGAGTGTGTGGCACTAGGGACTCCACGCTGTCTCCTCTCTCACGC CATCGAGTGTGTGGCACTAGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234058	GAGAGGAG others(89): Show GAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACA GAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGAC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0030 a0001c0003t0001g0030	1	183	0.0055	-96	c.107 others(117): Show c.1077+13756_1077+13851delGTCGCCCCATCGAGTGTGTGGCAC TAGGGACTCCACGCTGTCTCCTCTGTCGCCCCATCGAGTGTGTGGCACTA GGGACTCCACGCTGTCTCCTCT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234359	GTGGAGCC others(89): Show GTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGT GGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	183	0.0055	-96	c.107 others(117): Show c.1077+13455_1077+13550delTGCTGTCTCCTCTGTCGCCCCATC GAGTGTGTGGCACTAGGGACTCCACGCTGTCTCCTCTGTCGCCCCATCGA GTGTGTGGCACTAGGGGCTCCA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234946	AGTGCCAC others(89): Show AGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGCCCCTAG TGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00639.hp1 others(19): Show HG00423.hp1 HG00609.hp1 HG00639.hp1 HG00733.hp1 HG01099.hp2 HG01106.hp1 HG01175.hp1 HG01192.hp1 HG02040.hp2 HG02132.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02976.hp2 HG03225.hp2 NA18522.hp2 NA18747.hp1 NA18945.hp1 NA18961.hp1 NA18964.hp1 NA18971.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0012	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0009t0002 a0001c0010t0001 a0001c0012t0002	a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0029 others(19): Show a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0090 a0001c0001t0001g0111 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0135 a0001c0002t0001g0141 a0001c0002t0001g0163 a0001c0003t0001g0030 a0001c0004t0001g0016 a0001c0005t0001g0088 a0001c0007t0001g0061 a0001c0009t0002g0168 a0001c0009t0002g0177 a0001c0010t0001g0085 a0001c0010t0001g0086 a0001c0010t0001g0087 a0001c0010t0001g0089 a0001c0012t0002g0183	22	183	0.1202	-96	c.107 others(117): Show c.1077+12868_1077+12963delCAGGGACTCCACGCTGTCTCCTCT GTCGCCCCATCGAGTGTGTGGCACTAGGGGCTCCACACTGTCTCCTCTGT CGCCCCATCGAGTGTGTGGCAC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132303798	CAGACACA others(89): Show CAGACACACCCTCACCCGGGCACACCCTCACCGGGGCACACCCTCACCCG GACACACCCTCGCCCAGACACACCCTCGCCTGGGCACAGCCTCACCG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp2 HG02723.hp1 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0078 a0001c0006t0001g0142 a0001c0006t0001g0078 a0001c0006t0001g0142	2	183	0.0109	-96	c.239 others(115): Show c.239-17464_239-17369delCGGTGAGGCTGTGCCCAGGCGAGGGT GTGTCTGGGCGAGGGTGTGTCCGGGTGAGGGTGTGCCCCGGTGAGGGTGT GCCCGGGTGAGGGTGTGTCT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132305054	GAATCGCC others(89): Show GAATCGCCCAGACACACCCTCACCTGGGCACACCCTCACCCGGGCACAGC CTCACCCAGACACGCCCTCACCCGGGCACAGCCTCGCCCGGGCACAC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0047 a0001c0018t0001g0047	1	183	0.0055	-96	c.239 others(115): Show c.239-18720_239-18625delGTGTGCCCGGGCGAGGCTGTGCCCGG GTGAGGGCGTGTCTGGGTGAGGCTGTGCCCGGGTGAGGGTGTGCCCAGGT GAGGGTGTGTCTGGGCGATT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALR1_chr18_77244848_77282900	77252896	TCACCACC others(89): Show TCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCATCACCACCATCACCACCACCATCACCACCATCACCACCATCAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0199 a0001c0002t0002g0199	1	366	0.0027	-96	c.666 others(113): Show c.666+1709_666+1804delTCACCACCACCACCACCACCACCACCAT CACCACCATCACCACCACCATCACCACCATCACCACCATCACCACCACCA CCACCACCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GATA5_chr20_62458497_62480995	62477157	TCTTTCTT others(89): Show TCTTTCTTTCTCGGAGCACACCGGGTGGACCCAGGCGTGGTGGCCATGAA AGTTCTTTTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0022 a0001c0004t0002g0022	1	382	0.0026	-96	c.-13 others(107): Show c.-1345_-1250delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAA AGAAAAAAGAACTTTCATGGCCACCACGCCTGGGTCCACCCGGTGTGCTC CGAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1163		chr20	TogoVar
GCNT3_chr15_59606783_59627723	59610957	CCCTCCCC others(89): Show CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCACCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18959.hp1 NA18971.hp1 others(3): Show NA18952.hp1 NA18959.hp1 NA18971.hp1 NA18993.hp1 NA18995.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0014 a0001c0002t0019 a0001c0002t0011 a0001c0002t0014 a0001c0002t0019	a0001c0002t0011g0007 a0001c0002t0014g0007 a0001c0002t0019g0007 a0001c0002t0011g0007 a0001c0002t0014g0007 a0001c0002t0019g0007	6	428	0.0140	-96	c.-12 others(107): Show c.-1274_-1179delCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCACCCT	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		825		chr15	TogoVar
GFPT2_chr5_180295698_180358336	180296759	ACACACAC others(89): Show ACACACACACACACACAAGGAAGTACAACACACACGTAAGAAAGTACACA CACGGAAGTACTTACCCCCCCCCCCACACACACACGGAAGTACTTAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	412	0.0024	-96	c.47 others(107): Show c.4709_*4804delGTAAGTACTTCCGTGTGTGTGTGGGGGGGGGGGT AAGTACTTCCGTGTGTGTACTTTCTTACGTGTGTGTTGTACTTCCTTGTG TGTGTGTGTGTG	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3938		chr5	TogoVar
GHR_chr5_42418439_42726878	42534178	GTATGTAT others(89): Show GTATGTATATATGTACATGTGTATATATGTATATATGTATATATGTACAT GTGTATATGTGTATATATGTATATATGTACATGTGTATATGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01192.hp2 HG01952.hp1 others(16): Show HG00733.hp2 HG01192.hp2 HG01952.hp1 HG02486.hp2 HG02602.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03098.hp2 HG03486.hp2 HG03540.hp1 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG04228.hp1 NA18522.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0008	a0001c0001 a0002c0002 a0003c0005 others(2): Show a0001c0001 a0002c0002 a0003c0005 a0005c0007 a0008c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0002c0002t0001 a0003c0005t0002 a0005c0007t0017 a0008c0009t0001	a0001c0001t0002g0031 a0001c0001t0002g0173 a0001c0001t0004g0061 others(16): Show a0001c0001t0002g0031 a0001c0001t0002g0173 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0015g0093 a0001c0001t0015g0094 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0059 a0002c0002t0001g0110 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0172 a0002c0002t0001g0186 a0003c0005t0002g0095 a0005c0007t0017g0136 a0008c0009t0001g0112	19	210	0.0905	-96	c.-11 others(115): Show c.-11-31660_-11-31565delATGTATATATGTATATATGTACATGT GTATATGTGTATATATGTATATATGTACATGTGTATATGTGTATATATGT ATATATGTACATGTGTATAT	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GLUD1_chr10_87045202_87099843	87080981	CCCCCCGC others(89): Show CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	334	0.0030	-96	c.446 others(113): Show c.446-4421_446-4326delCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGG	GLUD1	ENSG00000148672.10	transcript	ENST00000277865.5	protein_coding	1/12			chr10	TogoVar
GNAL_chr18_11684264_11890685	11826236	CAGAGGAG others(89): Show CAGAGGAGGAGGAGGAGCGGGGAGGGGGAAGGAAGAGGAGGAGGAGGAGC GGGGAGGGGGAAGGAAGAGGAGGAGGAGGAGCGGGGAGCGGGAAGGA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01433.hp1 HG02004.hp2 HG01099.hp1 HG01433.hp1 HG02004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0024 a0002c0002t0005 a0001c0001t0002 a0001c0001t0024 a0002c0002t0005	a0001c0001t0002g0172 a0001c0001t0024g0218 a0002c0002t0005g0045 a0001c0001t0002g0172 a0001c0001t0024g0218 a0002c0002t0005g0045	3	248	0.0121	-96	c.722 others(113): Show c.722+1270_722+1365delCGGGGAGGGGGAAGGAAGAGGAGGAGGA GGAGCGGGGAGCGGGAAGGAAGAGGAGGAGGAGGAGCGGGGAGGGGGAAG GAAGAGGAGGAGGAGGAG	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11826236	CAGAGGAG others(89): Show CAGAGGAGGAGGAGGAGCGGGGAGGGGGAAGGAAGAGGAGGAGGAGGAGC GGGGAGGGGGAAGGAAGAGGAGGAGGAGGAGCGGGGAGCGGGAAGGA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01433.hp1 HG01496.hp2 others(1): Show HG01099.hp2 HG01433.hp1 HG01496.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0039 a0001c0001t0001 a0001c0001t0002 a0001c0001t0039	a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0002g0126 others(1): Show a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0002g0126 a0001c0001t0039g0124	4	284	0.0141	-96	c.491 others(113): Show c.491+1270_491+1365delCGGGGAGGGGGAAGGAAGAGGAGGAGGA GGAGCGGGGAGCGGGAAGGAAGAGGAGGAGGAGGAGCGGGGAGGGGGAAG GAAGAGGAGGAGGAGGAG	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAT3_chr7_80453635_80517064	80497580	GTATATAC others(89): Show GTATATACATATACGTATATACATATACGTATATACATATACGTATATAC ATATACGTATATACATATACGTATATACATATACGTATATACATACA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG01433.hp2 others(19): Show HG00639.hp2 HG01243.hp1 HG01433.hp2 HG02027.hp1 HG02083.hp2 HG02132.hp1 HG02258.hp1 HG02622.hp1 HG02647.hp1 NA18951.hp2 NA18953.hp2 NA18961.hp1 NA18965.hp2 NA18985.hp1 NA18990.hp1 NA19005.hp2 NA19043.hp1 NA19079.hp2 NA19082.hp2 NA19084.hp2 NA19088.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0196 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0236 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301	22	334	0.0659	-96	c.119 others(113): Show c.119-3029_119-2934delTGTATGTATATACGTATATGTATATACG TATATGTATATACGTATATGTATATACGTATATGTATATACGTATATGTA TATACGTATATGTATATA	GNAT3	ENSG00000214415.4	transcript	ENST00000398291.4	protein_coding	1/7			chr7	TogoVar
GNPTG_chr16_1346931_1369113	1355085	GGTCTCCC others(89): Show GGTCTCCCGCGTCTGCGGGGTCGGGTGTGGATGGTCTCCCGCCTCTGCGG GGTCGGGTGTGGATGGTCTCCCGCGTCTGTGGGGTCGGGTGTGGATC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	378	0.0027	-96	c.178 others(113): Show c.178+2794_178+2889delCGGGGTCGGGTGTGGATGGTCTCCCGCC TCTGCGGGGTCGGGTGTGGATGGTCTCCCGCGTCTGTGGGGTCGGGTGTG GATCGTCTCCCGCGTCTG	GNPTG	ENSG00000090581.11	transcript	ENST00000204679.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
GOLGA3_chr12_132763914_132833869	132817251	CTCCACAC others(89): Show CTCCACACCTCCACACTCTAACGTGAACCCGCCCTCCACTCCTCCACGCT CTAAGGTGAACCCGCCCTCCACACCTCCACGCTCTAAGGTGAACCCG	C C	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	308	0.0033	-96	c.134 others(111): Show c.134-535_134-440delCGGGTTCACCTTAGAGCGTGGAGGTGTGGA GGGCGGGTTCACCTTAGAGCGTGGAGGAGTGGAGGGCGGGTTCACGTTAG AGTGTGGAGGTGTGGA	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132817779	CTCCACTC others(89): Show CTCCACTCCTCCACGCTCTAAGGTGAACCCGCACTCCACACCTCCACACT CTAACGTGAACCCGCCCTCCACTCCTCCACGCTCTAAGGTGAACTCA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00741.hp1 others(23): Show HG00323.hp2 HG00423.hp1 HG00741.hp1 HG01123.hp1 HG01169.hp2 HG02027.hp1 HG02074.hp1 HG02895.hp2 HG04204.hp2 NA18522.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18964.hp1 NA18966.hp2 NA18971.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18991.hp1 NA19009.hp1 NA19010.hp2 NA19066.hp1 NA19077.hp2 NA19079.hp2 NA19083.hp2	a0001 a0003 a0015 a0001 a0003 a0015	a0001c0001 a0001c0011 a0003c0004 others(1): Show a0001c0001 a0001c0011 a0003c0004 a0015c0021	a0001c0001t0001 a0001c0001t0024 a0001c0001t0066 others(6): Show a0001c0001t0001 a0001c0001t0024 a0001c0001t0066 a0001c0001t0069 a0001c0001t0071 a0001c0011t0001 a0001c0011t0074 a0003c0004t0008 a0015c0021t0068	a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0051 others(23): Show a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0024g0094 a0001c0001t0066g0031 a0001c0001t0069g0032 a0001c0001t0071g0050 a0001c0011t0001g0061 a0001c0011t0074g0067 a0003c0004t0008g0285 a0003c0004t0008g0286 a0015c0021t0068g0072	26	308	0.0844	-96	c.134 others(112): Show c.134-1063_134-968delTGAGTTCACCTTAGAGCGTGGAGGAGTGG AGGGCGGGTTCACGTTAGAGTGTGGAGGTGTGGAGTGCGGGTTCACCTTA GAGCGTGGAGGAGTGGA	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23			chr12	TogoVar
GPC6_chr13_93221807_94413020	93231329	ACGTATAT others(89): Show ACGTATATATATATATACATATATATATATACGTATATATATATATATAT ACATATATATATATATATGTATATATATATATATATATATATATACG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0035 a0001c0001t0016g0035	1	76	0.0132	-96	c.160 others(113): Show c.160+3714_160+3809delCGTATATATATATATACATATATATATA TACGTATATATATATATATATACATATATATATATATATGTATATATATA TATATATATATATATACG	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8			chr13	TogoVar
GRID2_chr4_92298966_93779566	93517930	TATGTATG others(89): Show TATGTATGTATATACATACATGTATATGTATGTATATACATACATGTACA TGTATGTATATACATACATGTATATGTATGTATATACATACATGTAC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01496.hp1 HG01978.hp1 others(5): Show HG01192.hp1 HG01496.hp1 HG01978.hp1 HG02055.hp1 HG02615.hp1 HG02698.hp1 HG03225.hp2 NA18950.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0017 others(5): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0002t0001g0004 a0002c0003t0001g0012	8	34	0.2353	-96	c.219 others(115): Show c.2193+2533_2193+2628delCATACATGTATATGTATGTATATACA TACATGTACATGTATGTATATACATACATGTATATGTATGTATATACATA CATGTACATGTATGTATATA	GRID2	ENSG00000152208.13	transcript	ENST00000282020.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
GSG1L_chr16_27782528_28068714	27805235	GGGGTGGG others(89): Show GGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGGGGGTGGGGGGAGGGCT GTGGGCACTGGGATTGGGGTGGGGGGAGGGCTGTGGGCACTGGGATT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp1 HG02630.hp1 others(7): Show HG02451.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02818.hp2 HG02965.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0004 a0001c0001t0010 a0001c0002t0004 others(4): Show a0001c0001t0004 a0001c0001t0010 a0001c0002t0004 a0001c0002t0034 a0001c0002t0046 a0001c0002t0047 a0001c0006t0009	a0001c0001t0004g0067 a0001c0001t0004g0166 a0001c0001t0010g0006 others(7): Show a0001c0001t0004g0067 a0001c0001t0004g0166 a0001c0001t0010g0006 a0001c0002t0004g0017 a0001c0002t0004g0168 a0001c0002t0004g0226 a0001c0002t0034g0235 a0001c0002t0046g0105 a0001c0002t0047g0160 a0001c0006t0009g0022	10	240	0.0417	-96	c.898 others(113): Show c.898+2156_898+2251delAATCCCAGTGCCCACAGCCCTCCCCCCA CCCCAATCCCAGTGCCCACAGCCCTCCCCCCACCCCCAATCCCAGTGCCC ACAGCCCTCCCCCCACCC	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	6/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27805531	GGGGGGAG others(89): Show GGGGGGAGGGCTGTGGGCACTGGGATTGGGGTGGGGGGAGGGCTGTGGGC ACTGGGATTGGGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGGGGT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	240	0.0042	-96	c.898 others(113): Show c.898+1860_898+1955delACCCCAATCCCAGTGCCCACAGCCCTCC CCCCACCCCCAATCCCAGTGCCCACAGCCCTCCCCCCACCCCAATCCCAG TGCCCACAGCCCTCCCCC	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	6/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27805558	GGGGTGGG others(89): Show GGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGGGGGTGGGGGGAGGGCT GTGGGCACTGGGATTGGGGTGGGGGGAGGGCTGTGGGCACTGGGATT	G G	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0219 a0001c0001t0008g0219	1	240	0.0042	-96	c.898 others(113): Show c.898+1833_898+1928delAATCCCAGTGCCCACAGCCCTCCCCCCA CCCCAATCCCAGTGCCCACAGCCCTCCCCCCACCCCCAATCCCAGTGCCC ACAGCCCTCCCCCCACCC	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	6/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27805596	GGGGGGAG others(89): Show GGGGGGAGGGCTGTGGGCACTGGGATTGGGGTGGGGGGAGGGCTGTGGGC ACTGGGATTGGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGGGGGT	G G	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0236 a0002c0003t0003g0236	1	240	0.0042	-96	c.898 others(113): Show c.898+1795_898+1890delACCCCCAATCCCAGTGCCCACAGCCCTC CCCCCACCCCAATCCCAGTGCCCACAGCCCTCCCCCCACCCCAATCCCAG TGCCCACAGCCCTCCCCC	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	6/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27805628	GGGGGGAG others(89): Show GGGGGGAGGGCTGTGGGCACTGGGATTGGGGTGGGGGGAGGGCTGTGGGC ACTGGGATTGGGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGGGGT	G G	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0177 a0001c0002t0005g0177	1	240	0.0042	-96	c.898 others(113): Show c.898+1763_898+1858delACCCCAATCCCAGTGCCCACAGCCCTCC CCCCACCCCCAATCCCAGTGCCCACAGCCCTCCCCCCACCCCAATCCCAG TGCCCACAGCCCTCCCCC	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	6/6			chr16	TogoVar
GSTM4_chr1_109651099_109666700	109654120	AGAAAGAA others(89): Show AGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	364	0.0028	-96	c.-22 others(107): Show c.-2269_-2174delGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAAG AAAGAAAGAAAG	GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding		1978		chr1	TogoVar
GTPBP6_chrX_299759_323796	317312	AACCCGGG others(89): Show AACCCGGGAGCTGCGGGTGCTCAGGGGATTACTGAGGAACCACCGGCAGG TTTGGGGAGTAGAGAGGCAAGAGGTCTGCGCGCTGTTCTGAGCAGTT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0025 a0025	a0025c0020 a0025c0020	a0025c0020t0002 a0025c0020t0002	a0025c0020t0002g0026 a0025c0020t0002g0026	1	155	0.0065	-96	c.350 others(111): Show c.350-357_350-262delAACTGCTCAGAACAGCGCGCAGACCTCTTG CCTCTCTACTCCCCAAACCTGCCGGTGGTTCCTCAGTAATCCCCTGAGCA CCCGCAGCTCCCGGGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	1/9			chrX	TogoVar
H3-4_chr1_228419845_228430360	228426977	TCCTTCCT others(89): Show TCCTTCCTTTCTCCCTCCCTCCCTTCCTTTCTCCTTCCCTCCCTTCCTCA CTCCCTCCCTTCCTTTCTCCTTCCCTCCCTTCCTTTCTCCTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02280.hp2 others(6): Show HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02818.hp1 HG02922.hp1 HG03130.hp1 HG03453.hp1 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	9	414	0.0217	-96	c.-17 others(107): Show c.-1748_-1653delGAGGGAAGGAGAAAGGAAGGGAGGGAAGGAGAAA GGAAGGGAGGGAGTGAGGAAGGGAGGGAAGGAGAAAGGAAGGGAGGGAGG GAGAAAGGAAGG	H3-4	ENSG00000168148.4	transcript	ENST00000366696.2	protein_coding		1618		chr1	TogoVar
H3-4_chr1_228419845_228430360	228426991	CTCCCTCC others(89): Show CTCCCTCCCTTCCTTTCTCCTTCCCTCCCTTCCTCACTCCCTCCCTTCCT TTCTCCTTCCCTCCCTTCCTTTCTCCTTCCCTCCCTTCCTTTCTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0000 a0001c0006t0001g0000	1	414	0.0024	-96	c.-17 others(107): Show c.-1762_-1667delAGGAGAAAGGAAGGGAGGGAAGGAGAAAGGAAGG GAGGGAAGGAGAAAGGAAGGGAGGGAGTGAGGAAGGGAGGGAAGGAGAAA GGAAGGGAGGGA	H3-4	ENSG00000168148.4	transcript	ENST00000366696.2	protein_coding		1632		chr1	TogoVar
HACL1_chr3_15555699_15606569	15606019	GGTGACAG others(89): Show GGTGACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGA TGTGAAATCATCTTTGCACTTTGAGTAGTCCTTGACACAATGCCTCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	428	0.0023	-96	c.-46 others(107): Show c.-4652_-4557delGGAGGCATTGTGTCAAGGACTACTCAAAGTGCAA AGATGATTTCACATCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTC TCGCTCTGTCAC	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding		4451		chr3	TogoVar
HCN1_chr5_45249948_45701380	45375654	TATAAGAT others(89): Show TATAAGATCATATTTTATGATACATATTATATATAAGATCATATTTTATG ATACATATTATATATAATATCATATTTTATGATATATCTTATATATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0080 a0001c0001t0022g0080	1	226	0.0044	-96	c.123 others(117): Show c.1230+20742_1230+20837delTATATATAAGATATATCATAAAAT ATGATATTATATATAATATGTATCATAAAATATGATCTTATATATAATAT GTATCATAAAATATGATCTTAT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HDAC9_chr7_18490749_19007416	18733087	ATATACAT others(89): Show ATATACATGTGTATATATACATATATATGTGTATACATGTATATATATAC ACATGTATACACATATATACACGTGTATACACATGTATATATGTGTC	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03579.hp1 HG03516.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0042 a0001c0002t0006 a0001c0002t0042	a0001c0002t0006g0138 a0001c0002t0042g0019 a0001c0002t0006g0138 a0001c0002t0042g0019	2	156	0.0128	-96	c.190 others(115): Show c.1909+5338_1909+5433delGTGTATATATACATATATATGTGTAT ACATGTATATATATACACATGTATACACATATATACACGTGTATACACAT GTATATATGTGTCTATACAT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HEXD_chr17_82413347_82447645	82443764	GGCCACGG others(89): Show GGCCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCGGGAATGTG CCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCGGGAATGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02895.hp2 HG02896.hp2 HG02622.hp1 HG02895.hp2 HG02896.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0020 a0001c0007t0001g0192 a0001c0007t0001g0020 a0001c0007t0001g0192	3	400	0.0075	-96	c.13 others(107): Show c.1381_*1476delGCCACGGGTCCTGTGGGCGGTGCACGGGCTCAGG CACACCGGGAATGTGCCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCA CACCGGGAATGT	HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding		1120		chr17	TogoVar

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