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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
EXD3_chr9_137301896_137428162	137328723	T T	TACACGGG others(13): Show TACACGGGACTACACAGGGTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0046 a0012c0012t0001g0046	1	82	0.0122	20	c.199 others(39): Show c.1999-4581_1999-4580insGACCCTGTGTAGTCCCGTGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329299	G G	GCTACACG others(13): Show GCTACACGGGACTACACGGGA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	82	0.0122	20	c.199 others(39): Show c.1999-5157_1999-5156insTCCCGTGTAGTCCCGTGTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329576	G G	GCTACACG others(13): Show GCTACACGGGGTCACACGGGA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18999.hp1 HG02129.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0057 a0001c0001t0001g0060	2	82	0.0244	20	c.199 others(39): Show c.1999-5434_1999-5433insTCCCGTGTGACCCCGTGTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329576	G G	GTCACACG others(13): Show GTCACACGGGACTACACGGGA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0022 a0022	a0022c0015 a0022c0015	a0022c0015t0001 a0022c0015t0001	a0022c0015t0001g0072 a0022c0015t0001g0072	1	82	0.0122	20	c.199 others(39): Show c.1999-5434_1999-5433insTCCCGTGTAGTCCCGTGTGA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329628	T T	TACACGGG others(13): Show TACACGGGACTACACGGGGTC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	82	0.0122	20	c.199 others(39): Show c.1999-5486_1999-5485insGACCCCGTGTAGTCCCGTGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329656	G G	GCTACACG others(13): Show GCTACACGGGGTCACACGGGA	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA19007.hp2 HG03017.hp1 NA19007.hp2	a0001 a0020 a0001 a0020	a0001c0001 a0020c0014 a0001c0001 a0020c0014	a0001c0001t0001 a0020c0014t0001 a0001c0001t0001 a0020c0014t0001	a0001c0001t0001g0070 a0020c0014t0001g0074 a0001c0001t0001g0070 a0020c0014t0001g0074	2	82	0.0244	20	c.199 others(39): Show c.1999-5514_1999-5513insTCCCGTGTGACCCCGTGTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329738	C C	CACACGGG others(13): Show CACACGGGACTACACGGGAGT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0014 a0004c0009t0001g0014	1	82	0.0122	20	c.199 others(39): Show c.1999-5596_1999-5595insACTCCCGTGTAGTCCCGTGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329763	G G	GGGACTAC others(13): Show GGGACTACACGGGACTACACA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03098.hp1 HG02257.hp1 HG03098.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0018 a0005c0005t0001g0066 a0005c0005t0001g0018 a0005c0005t0001g0066	2	82	0.0244	20	c.199 others(39): Show c.1999-5621_1999-5620insTGTGTAGTCCCGTGTAGTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329978	G G	GGGACTAC others(13): Show GGGACTACACAGGACTACACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01069.hp2 others(8): Show HG00280.hp1 HG00323.hp2 HG01069.hp2 HG01256.hp2 HG02257.hp1 HG02280.hp2 HG02683.hp1 HG02896.hp1 HG03098.hp1 NA18522.hp2 NA19043.hp1	a0005 a0007 a0008 others(5): Show a0005 a0007 a0008 a0009 a0014 a0015 a0025 a0028	a0005c0005 a0007c0010 a0008c0020 others(5): Show a0005c0005 a0007c0010 a0008c0020 a0009c0008 a0014c0029 a0015c0028 a0025c0024 a0028c0034	a0005c0005t0001 a0007c0010t0001 a0008c0020t0001 others(5): Show a0005c0005t0001 a0007c0010t0001 a0008c0020t0001 a0009c0008t0001 a0014c0029t0001 a0015c0028t0001 a0025c0024t0001 a0028c0034t0001	a0005c0005t0001g0018 a0005c0005t0001g0066 a0007c0010t0001g0021 others(8): Show a0005c0005t0001g0018 a0005c0005t0001g0066 a0007c0010t0001g0021 a0007c0010t0001g0079 a0008c0020t0001g0005 a0009c0008t0001g0012 a0009c0008t0001g0013 a0014c0029t0001g0024 a0015c0028t0001g0080 a0025c0024t0001g0049 a0028c0034t0001g0067	11	82	0.1342	20	c.199 others(39): Show c.1999-5855_1999-5836dupTGTGTAGTCCTGTGTAGTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137346238	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0027 a0027	a0027c0035 a0027c0035	a0027c0035t0001 a0027c0035t0001	a0027c0035t0001g0040 a0027c0035t0001g0040	1	82	0.0122	20	c.199 others(39): Show c.1998+1813_1998+1832dupTTTTTTTTTTTTTTTTTTTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137381098	T T	TCTCTCAC others(13): Show TCTCTCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0021 a0007c0010t0001g0021	1	82	0.0122	20	c.120 others(37): Show c.120+2214_120+2215insTGTGTGTGTGTGTGTGAGAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	3/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137382093	G G	GCGCGGAG others(13): Show GCGCGGAGGAGGTGAGGGCGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01256.hp2 others(6): Show HG00280.hp1 HG00323.hp2 HG01256.hp2 HG02165.hp2 HG02257.hp1 HG02896.hp1 HG02976.hp2 HG03209.hp2 NA18999.hp2	a0005 a0007 a0008 others(5): Show a0005 a0007 a0008 a0010 a0013 a0015 a0016 a0021	a0005c0005 a0007c0010 a0008c0020 others(5): Show a0005c0005 a0007c0010 a0008c0020 a0010c0006 a0013c0027 a0015c0028 a0016c0026 a0021c0023	a0005c0005t0001 a0007c0010t0001 a0008c0020t0001 others(5): Show a0005c0005t0001 a0007c0010t0001 a0008c0020t0001 a0010c0006t0001 a0013c0027t0001 a0015c0028t0001 a0016c0026t0001 a0021c0023t0001	a0005c0005t0001g0066 a0007c0010t0001g0021 a0007c0010t0001g0079 others(6): Show a0005c0005t0001g0066 a0007c0010t0001g0021 a0007c0010t0001g0079 a0008c0020t0001g0005 a0010c0006t0001g0047 a0013c0027t0001g0064 a0015c0028t0001g0080 a0016c0026t0001g0033 a0021c0023t0001g0004	9	82	0.1098	20	c.120 others(37): Show c.120+1219_120+1220insGCGCCCTCACCTCCTCCGCG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	3/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137408546	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01256.hp2 HG01884.hp1 others(4): Show HG00741.hp1 HG01256.hp2 HG01884.hp1 HG01975.hp2 HG02004.hp1 HG03098.hp1 HG03669.hp2	a0003 a0005 a0007 others(4): Show a0003 a0005 a0007 a0011 a0018 a0023 a0031	a0003c0003 a0005c0005 a0007c0010 others(4): Show a0003c0003 a0005c0005 a0007c0010 a0011c0011 a0018c0022 a0023c0016 a0031c0033	a0003c0003t0001 a0005c0005t0001 a0007c0010t0001 others(4): Show a0003c0003t0001 a0005c0005t0001 a0007c0010t0001 a0011c0011t0001 a0018c0022t0001 a0023c0016t0001 a0031c0033t0001	a0003c0003t0001g0037 a0005c0005t0001g0018 a0007c0010t0001g0021 others(4): Show a0003c0003t0001g0037 a0005c0005t0001g0018 a0007c0010t0001g0021 a0011c0011t0001g0020 a0018c0022t0001g0038 a0023c0016t0001g0019 a0031c0033t0001g0017	7	82	0.0854	20	c.-47 others(39): Show c.-47-13143_-47-13142insTTTTTTTTTTTTTTTTTTTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	1/21			chr9	TogoVar
EXOC3L2_chr19_45207370_45250407	45229856	T T	TATATGTA others(13): Show TATATGTACATTAATGTACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00642.hp2 others(69): Show HG00323.hp1 HG00558.hp1 HG00642.hp2 HG00738.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02523.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG04199.hp1 HG04228.hp1 NA18747.hp1 NA18906.hp1 NA18947.hp1 NA18955.hp1 NA18956.hp2 NA18960.hp1 NA18962.hp2 NA18974.hp1 NA18977.hp2 NA18982.hp2 NA18995.hp1 NA18998.hp2 NA19009.hp1 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19059.hp2 NA19060.hp2 NA19066.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0012 a0013	a0001c0001 a0001c0002 a0001c0007 others(19): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0001c0012 a0001c0016 a0001c0017 a0001c0024 a0001c0029 a0001c0033 a0002c0003 a0002c0008 a0002c0013 a0003c0015 a0004c0020 a0005c0011 a0006c0014 a0006c0032 a0007c0030 a0008c0018 a0012c0022 a0013c0023	a0001c0001t0002 a0001c0001t0004 a0001c0002t0004 others(29): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0004 a0001c0002t0005 a0001c0007t0004 a0001c0009t0001 a0001c0012t0001 a0001c0012t0002 a0001c0016t0002 a0001c0017t0004 a0001c0024t0002 a0001c0029t0001 a0001c0033t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0008t0001 a0002c0008t0002 a0002c0013t0001 a0003c0015t0001 a0004c0020t0004 a0005c0011t0004 a0005c0011t0005 a0006c0014t0001 a0006c0014t0005 a0006c0032t0001 a0007c0030t0001 a0008c0018t0001 a0012c0022t0004 a0013c0023t0009	a0001c0001t0002g0296 a0001c0001t0004g0333 a0001c0002t0004g0094 others(69): Show a0001c0001t0002g0296 a0001c0001t0004g0333 a0001c0002t0004g0094 a0001c0002t0005g0082 a0001c0007t0004g0069 a0001c0009t0001g0190 a0001c0009t0001g0191 a0001c0012t0001g0014 a0001c0012t0001g0015 a0001c0012t0001g0016 a0001c0012t0002g0017 a0001c0016t0002g0067 a0001c0016t0002g0068 a0001c0017t0004g0312 a0001c0024t0002g0018 a0001c0029t0001g0066 a0001c0033t0001g0311 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0032 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0071 a0002c0003t0001g0072 a0002c0003t0001g0097 a0002c0003t0001g0118 a0002c0003t0001g0124 a0002c0003t0001g0131 a0002c0003t0001g0135 a0002c0003t0001g0230 a0002c0003t0001g0232 a0002c0003t0001g0233 a0002c0003t0001g0349 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0075 a0002c0003t0002g0076 a0002c0003t0002g0134 a0002c0003t0002g0192 a0002c0003t0002g0218 a0002c0003t0002g0234 a0002c0003t0002g0242 a0002c0003t0002g0245 a0002c0003t0003g0222 a0002c0003t0004g0244 a0002c0003t0004g0246 a0002c0003t0005g0101 a0002c0003t0005g0272 a0002c0008t0001g0140 a0002c0008t0001g0203 a0002c0008t0002g0059 a0002c0008t0002g0139 a0002c0008t0002g0309 a0002c0008t0002g0310 a0002c0013t0001g0243 a0002c0013t0001g0247 a0002c0013t0001g0279 a0002c0013t0001g0289 a0003c0015t0001g0328 a0004c0020t0004g0305 a0005c0011t0004g0028 a0005c0011t0005g0027 a0005c0011t0005g0049 a0006c0014t0001g0306 a0006c0014t0001g0308 a0006c0014t0005g0307 a0006c0032t0001g0315 a0007c0030t0001g0341 a0008c0018t0001g0313 a0012c0022t0004g0137 a0013c0023t0009g0348	72	356	0.2023	20	c.127 others(39): Show c.1270-1591_1270-1590insGTGTACATTAATGTACATAT	EXOC3L2	ENSG00000283632.4	transcript	ENST00000413988.3	protein_coding	4/11			chr19	TogoVar
EXOC3L2_chr19_45207370_45250407	45245739	C C	CGGGGGGG others(13): Show CGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG04199.hp2 HG01934.hp2 HG04199.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0006 a0003c0004t0001 a0003c0004t0006	a0003c0004t0001g0347 a0003c0004t0006g0324 a0003c0004t0001g0347 a0003c0004t0006g0324	2	356	0.0056	20	c.-41 others(29): Show c.-416_-415insCCCCCCCCCCCCCCCCCCCC	EXOC3L2	ENSG00000283632.4	transcript	ENST00000413988.3	protein_coding		333		chr19	TogoVar
EXOC3L4_chr14_103089725_103115559	103113390	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0001	a0004c0002t0001g0087 a0004c0002t0001g0087	1	404	0.0025	20	c.31 others(31): Show c.3167_*3168insTGTGTGTGTGTGTATGTGTG	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding		2832		chr14	TogoVar
EXOC3_chr5_438176_472290	441497	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG02109.hp1 HG02145.hp2 others(2): Show HG01261.hp1 HG02109.hp1 HG02145.hp2 HG03041.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0020 a0001c0001t0001g0181 a0001c0001t0001g0182	5	418	0.0120	20	c.-18 others(31): Show c.-1850_-1849insTTTTTTTTTTTTTTTTTTTT	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		1678		chr5	TogoVar
EXOC4_chr7_133248078_134070761	133516758	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01255.hp2 others(9): Show HG00140.hp2 HG00738.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01884.hp1 HG01943.hp2 HG02572.hp2 HG03139.hp1 NA18983.hp2 NA19009.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 a0001c0003t0004 a0001c0004t0001	a0001c0001t0001g0033 a0001c0001t0001g0052 a0001c0001t0001g0066 others(9): Show a0001c0001t0001g0033 a0001c0001t0001g0052 a0001c0001t0001g0066 a0001c0001t0003g0032 a0001c0002t0001g0007 a0001c0002t0003g0017 a0001c0003t0002g0005 a0001c0003t0002g0011 a0001c0003t0002g0039 a0001c0003t0004g0097 a0001c0004t0001g0016 a0001c0004t0001g0088	12	102	0.1177	20	c.141 others(41): Show c.1417+36634_1417+36635insTTTTTTTTTTTTTTTTTTTT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133558201	C C	CTTTTCTT others(13): Show CTTTTCTTTTCTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01884.hp1 NA18945.hp1 others(2): Show HG01346.hp1 HG01884.hp1 NA18945.hp1 NA19009.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0005 a0001c0002t0003 a0001c0003t0002 a0001c0001t0005 a0001c0002t0003 a0001c0003t0002	a0001c0001t0005g0051 a0001c0002t0003g0017 a0001c0003t0002g0015 others(2): Show a0001c0001t0005g0051 a0001c0002t0003g0017 a0001c0003t0002g0015 a0001c0003t0002g0036 a0001c0003t0002g0039	5	102	0.0490	20	c.141 others(41): Show c.1418-71825_1418-71824insTTTTTCTTTTCTTTTCTTTT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133679538	G G	GTCCATCC others(13): Show GTCCATCCATCCATCCATCCA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	102	0.0098	20	c.151 others(41): Show c.1514+49400_1514+49401insATCCATCCATCCATCCATCC	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133751982	C C	CAAATAAA others(13): Show CAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	102	0.0098	20	c.151 others(41): Show c.1515-65330_1515-65311dupAAATAAATAAATAAATAAAT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133840494	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp2 HG02622.hp1 others(3): Show HG02559.hp2 HG02572.hp2 HG02622.hp1 HG06807.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0003t0004 a0001c0008t0015	a0001c0001t0003g0055 a0001c0002t0001g0102 a0001c0002t0002g0071 others(3): Show a0001c0001t0003g0055 a0001c0002t0001g0102 a0001c0002t0002g0071 a0001c0002t0002g0079 a0001c0003t0004g0097 a0001c0008t0015g0078	6	102	0.0588	20	c.173 others(41): Show c.1734+22958_1734+22977dupATTTATTTATTTATTTATTT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133855042	T T	TATATATC others(13): Show TATATATCTAAATATATCTAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01261.hp2 HG01496.hp1 others(7): Show HG00140.hp1 HG01261.hp2 HG01496.hp1 HG01884.hp2 HG01943.hp2 HG02080.hp2 HG03540.hp2 NA18948.hp2 NA19010.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0004t0001 a0001c0004t0004 a0001c0004t0008 a0001c0005t0013	a0001c0001t0001g0033 a0001c0001t0001g0068 a0001c0001t0002g0003 others(7): Show a0001c0001t0001g0033 a0001c0001t0001g0068 a0001c0001t0002g0003 a0001c0001t0003g0070 a0001c0001t0003g0074 a0001c0001t0009g0046 a0001c0004t0001g0087 a0001c0004t0004g0044 a0001c0004t0008g0028 a0001c0005t0013g0045	10	102	0.0980	20	c.173 others(41): Show c.1734+37525_1734+37544dupCTAAATATATCTAAATATAT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133855079	C C	CTAAATAT others(13): Show CTAAATATATATAAATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0049 a0001c0003t0014g0049	1	102	0.0098	20	c.173 others(41): Show c.1734+37538_1734+37557dupAATATATATAAATATATATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857325	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0030 a0001c0004t0002g0030	1	102	0.0098	20	c.173 others(41): Show c.1735-38252_1735-38233dupATATATATATATATATATAT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133941821	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02109.hp2 HG02572.hp2 others(2): Show HG02080.hp1 HG02109.hp2 HG02572.hp2 HG02717.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0006 a0001c0003t0001 others(1): Show a0001c0002t0001 a0001c0002t0006 a0001c0003t0001 a0001c0003t0004	a0001c0002t0001g0063 a0001c0002t0001g0101 a0001c0002t0006g0096 others(2): Show a0001c0002t0001g0063 a0001c0002t0001g0101 a0001c0002t0006g0096 a0001c0003t0001g0023 a0001c0003t0004g0097	5	102	0.0490	20	c.220 others(39): Show c.2206+3763_2206+3782dupTCTCTCTCTCTCTCTCTCTC	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133971334	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	102	0.0098	20	c.220 others(41): Show c.2207-26149_2207-26130dupTATATATATATATATATATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72194569	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0020 a0001c0006t0020	a0001c0006t0020g0069 a0001c0006t0020g0069	1	104	0.0096	20	c.219 others(41): Show c.2197-10402_2197-10383dupGAGAGAGAGAGAGAGAGAGA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	20/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72307161	G G	GTTTTTGT others(13): Show GTTTTTGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG01256.hp2 others(14): Show HG00323.hp1 HG00642.hp2 HG01256.hp2 HG01981.hp2 HG02257.hp1 HG02572.hp1 HG02622.hp2 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03516.hp2 HG03927.hp1 NA18906.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0018 a0001c0001t0025	a0001c0001t0002g0027 a0001c0001t0002g0034 a0001c0001t0002g0048 others(14): Show a0001c0001t0002g0027 a0001c0001t0002g0034 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0061 a0001c0001t0003g0041 a0001c0001t0003g0047 a0001c0001t0003g0053 a0001c0001t0003g0058 a0001c0001t0006g0055 a0001c0001t0007g0042 a0001c0001t0007g0044 a0001c0001t0007g0060 a0001c0001t0012g0039 a0001c0001t0012g0052 a0001c0001t0018g0063 a0001c0001t0025g0059	17	104	0.1635	20	c.219 others(41): Show c.2196+27785_2196+27786insAAAAAAAAAAAAAACAAAAA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	20/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72307161	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0078 a0001c0005t0006g0078	1	104	0.0096	20	c.219 others(41): Show c.2196+27785_2196+27786insAAAAAAAAAAAAAAAAAAAA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	20/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72431495	A A	ATCTATCT others(13): Show ATCTATCTATCTATCTATCTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03540.hp2 HG02976.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0101 a0001c0002t0005g0102 a0001c0002t0005g0101 a0001c0002t0005g0102	2	104	0.0192	20	c.198 others(41): Show c.1980+33664_1980+33665insGAGATAGATAGATAGATAGA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72508184	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0081 a0001c0002t0010g0081	1	104	0.0096	20	c.116 others(39): Show c.1167+4947_1167+4948insGTTTTTTTTTTTTTTTTTTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	11/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72636331	G G	GGGAAGGA others(13): Show GGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02922.hp1 HG02280.hp2 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0009 a0001c0002t0005 a0001c0002t0009	a0001c0002t0005g0072 a0001c0002t0009g0023 a0001c0002t0005g0072 a0001c0002t0009g0023	2	104	0.0192	20	c.670 others(39): Show c.670-60683_670-60664dupTTCCTTCCTTCCTTCCTTCC	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72636377	G G	GAAGGAAG others(13): Show GAAGGAAGGAAGGAAGGAAGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0005 a0002c0004t0013g0005	1	104	0.0096	20	c.670 others(39): Show c.670-60710_670-60709insGCTTCCTTCCTTCCTTCCTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72767808	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03225.hp2 NA18522.hp1 others(1): Show HG01109.hp2 HG03225.hp2 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0019 a0001c0002t0003 a0001c0003t0010 others(1): Show a0001c0001t0019 a0001c0002t0003 a0001c0003t0010 a0001c0009t0005	a0001c0001t0019g0043 a0001c0002t0003g0071 a0001c0003t0010g0074 others(1): Show a0001c0001t0019g0043 a0001c0002t0003g0071 a0001c0003t0010g0074 a0001c0009t0005g0021	4	104	0.0385	20	c.114 others(39): Show c.114-26359_114-26340dupTTTTTTTTTTTTTTTTTTTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	1/21			chr2	TogoVar
EXOC6_chr10_92843520_93064490	92858021	T T	TCCCCCCC others(13): Show TCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	288	0.0035	20	c.101 others(37): Show c.101+9387_101+9388insCCCCCCCCCCCCCCCCCCCC	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	1/21			chr10	TogoVar
EXOC7_chr17_76076016_76108787	76077966	C C	CGGGGGGG others(13): Show CGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0072 a0001c0003t0002g0072	1	366	0.0027	20	c.56 others(31): Show c.5681_*5682insCCCCCCCCCCCCCCCCCCCC	EXOC7	ENSG00000182473.22	transcript	ENST00000589210.6	protein_coding		3049		chr17	TogoVar
EXOG_chr3_38491340_38531303	38492731	T T	TACACACA others(13): Show TACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	412	0.0024	20	c.-36 others(31): Show c.-3637_-3636insACACACACACACACACACAC	EXOG	ENSG00000157036.13	transcript	ENST00000287675.10	protein_coding		3608		chr3	TogoVar
EXOG_chr3_38491340_38531303	38520391	T T	TTAATAGC others(13): Show TTAATAGCAGCAAGGGTTTCC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	412	0.0024	20	c.646 others(37): Show c.646-3508_646-3489dupAATAGCAGCAAGGGTTTCCT	EXOG	ENSG00000157036.13	transcript	ENST00000287675.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
EXOSC10_chr1_11061618_11104869	11078264	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02135.hp1 HG01978.hp2 HG02135.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0239 a0001c0003t0002g0221 a0001c0003t0001g0239 a0001c0003t0002g0221	2	284	0.0070	20	c.175 others(37): Show c.1750-614_1750-613insAAAAAAAAAAAAAAAAAAAA	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	14/24			chr1	TogoVar
EXOSC10_chr1_11061618_11104869	11083562	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02004.hp1 HG02145.hp2 others(1): Show HG01175.hp1 HG02004.hp1 HG02145.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0002 a0001c0007t0001 a0001c0003t0002 a0001c0007t0001	a0001c0003t0002g0258 a0001c0003t0002g0259 a0001c0007t0001g0213 others(1): Show a0001c0003t0002g0258 a0001c0003t0002g0259 a0001c0007t0001g0213 a0001c0007t0001g0217	4	284	0.0141	20	c.109 others(37): Show c.1090-704_1090-685dupTTTTTTTTTTTTTTTTTTTT	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	9/24			chr1	TogoVar
EXOSC1_chr10_97430909_97451006	97449861	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00639.hp2 HG02615.hp1 others(7): Show HG00438.hp1 HG00639.hp2 HG02615.hp1 HG02886.hp1 HG02897.hp2 HG02965.hp2 HG03209.hp1 NA18964.hp1 NA19058.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0038 a0001c0001t0001g0040 others(6): Show a0001c0001t0001g0010 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0002t0001g0021 a0001c0002t0001g0024	10	430	0.0233	20	c.-38 others(31): Show c.-3896_-3877dupAAAAAAAAAAAAAAAAAAAA	EXOSC1	ENSG00000171311.13	transcript	ENST00000370902.8	protein_coding		3856		chr10	TogoVar
EXPH5_chr11_108500435_108598768	108532339	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03139.hp1 HG01071.hp1 HG03139.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0009 a0003c0003 a0008c0009	a0003c0003t0001 a0008c0009t0001 a0003c0003t0001 a0008c0009t0001	a0003c0003t0001g0276 a0008c0009t0001g0019 a0003c0003t0001g0276 a0008c0009t0001g0019	2	314	0.0064	20	c.444 others(37): Show c.444-4175_444-4156dupATATATATATATATATATAT	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	3/5			chr11	TogoVar
EXPH5_chr11_108500435_108598768	108532366	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0018 a0008c0009t0001g0018	1	314	0.0032	20	c.444 others(37): Show c.444-4183_444-4182insAATATATATATATATATATA	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	3/5			chr11	TogoVar
EXPH5_chr11_108500435_108598768	108573198	A A	AAGAAAGA others(13): Show AAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0238 a0006c0006t0001g0238	1	314	0.0032	20	c.119 others(39): Show c.119+20219_119+20220insCTCTTTCTTTCTTTCTTTCT	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
EXPH5_chr11_108500435_108598768	108586470	T T	TCCCCTTT others(13): Show TCCCCTTTCCTCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0004 a0007c0007t0004	a0007c0007t0004g0202 a0007c0007t0004g0202	1	314	0.0032	20	c.119 others(37): Show c.119+6947_119+6948insGTGGGGAGGGAGGAAAGGGG	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
EXPH5_chr11_108500435_108598768	108586568	C C	CCCCCATC others(13): Show CCCCCATCCCCTTTCCTCCCT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01106.hp2 HG01346.hp1 others(3): Show HG00733.hp1 HG01106.hp2 HG01346.hp1 HG01517.hp2 HG01975.hp1 HG03704.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0033 a0002c0002 others(1): Show a0001c0001 a0001c0033 a0002c0002 a0004c0004	a0001c0001t0002 a0001c0033t0011 a0002c0002t0009 others(2): Show a0001c0001t0002 a0001c0033t0011 a0002c0002t0009 a0004c0004t0001 a0004c0004t0053	a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0033t0011g0159 others(3): Show a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0033t0011g0159 a0002c0002t0009g0181 a0004c0004t0001g0160 a0004c0004t0053g0158	6	314	0.0191	20	c.119 others(37): Show c.119+6849_119+6850insAGGGAGGAAAGGGGATGGGG	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
EXT1_chr8_117789490_118116826	117809209	G G	GTATAAAT others(13): Show GTATAAATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02129.hp1 NA18966.hp1 HG00609.hp1 HG02129.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0007 a0001c0002t0036 a0001c0005t0002 a0001c0002t0007 a0001c0002t0036 a0001c0005t0002	a0001c0002t0007g0147 a0001c0002t0036g0018 a0001c0005t0002g0115 a0001c0002t0007g0147 a0001c0002t0036g0018 a0001c0005t0002g0115	3	190	0.0158	20	c.172 others(39): Show c.1723-1833_1723-1832insTATATATATATATATTTATA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	8/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117851616	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0143	1	190	0.0053	20	c.963 others(39): Show c.963-14435_963-14416dupGTGTGTGTGTGTGTGTGTGT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117858766	A A	AAGGCAGG others(13): Show AAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp2 HG03239.hp2 others(2): Show HG00323.hp1 HG01074.hp2 HG03239.hp2 HG04115.hp1 NA19060.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007	a0001c0003t0001g0047 a0001c0003t0002g0130 a0001c0003t0002g0153 others(2): Show a0001c0003t0001g0047 a0001c0003t0002g0130 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0007g0133	5	190	0.0263	20	c.963 others(39): Show c.963-21585_963-21566dupGCCTGCCTGCCTGCCTGCCT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)