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
ZMAT4_chr8_40525590_40902826	40792643	G G	GGAGGGGA others(203): Show GGAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGAGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGAAGGAGAGGGTAGAGGAGG AGAGGGTAGAGGAGGAGAGGGTAGAGGAGGAGAGGGGAGGGGAGGAGAGG GGAGGGGAGGGGAGGGGAGAGGAGGAGAGGGGAGGGGAGGGGAGGGGAGG GGAGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02965.hp1 HG03209.hp1 others(2): Show HG02615.hp1 HG02965.hp1 HG03209.hp1 HG03209.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0003 a0002c0002t0008	a0001c0001t0001g0051 a0001c0001t0002g0096 a0001c0001t0004g0005 others(2): Show a0001c0001t0001g0051 a0001c0001t0002g0096 a0001c0001t0004g0005 a0002c0002t0003g0111 a0002c0002t0008g0002	5	228	0.0219	210	c.103 others(229): Show c.103-24914_103-24913insTCCTCCTCTCCCCTCCCCTCCCCTCC CCTCCCCTCTCCTCCTCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCC CCTCTCCTCCTCTACCCTCTCCTCCTCTACCCTCTCCTCCTCTACCCTCT CCTTCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCTCTCC CCTCTCCTCCCCTCTCCTCCCCTCCCCTCCCCTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	2/6			chr8	TogoVar
ZMAT4_chr8_40525590_40902826	40792643	G G	GGAGGGGA others(203): Show GGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGAGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGG GGAGGAGAGGGGAGGGGAGGGGAGGGAAGGAGAGGGTAGAGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGGAGG GGAGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03516.hp2 HG03579.hp2 HG02559.hp1 HG03516.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0088 a0001c0001t0001g0171 a0001c0001t0002g0211 a0001c0001t0001g0088 a0001c0001t0001g0171 a0001c0001t0002g0211	3	228	0.0132	210	c.103 others(229): Show c.103-24914_103-24913insTCCTCCTCTCCCCTCCCCTCCCCTCC CCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCTCTAC CCTCTCCTTCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCC CCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCTCTCC CCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	2/6			chr8	TogoVar
ZNF512B_chr20_63951704_63974930	63951766	C C	CGCCCAGG others(203): Show CGCCCAGGGCTCAGCAGGGCACAGGGGACACAGCCACCTCCCCGCCCAGG GCTCAGCAGGGCACAGGGGACACAGCCACCTCCCTGCCCAGGGCTCAGCA GGGCACAGGGGACACAGCCACCTCCCCGCCCAGGGCTCAGCAGGGCACAG GGGACACAGCCACCTCCCCGCCCAGGGCTCAGCAGGGCACAGGGGACACA GCCACCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18950.hp2 NA18943.hp2 NA18950.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0044 a0002c0004t0002g0044	2	356	0.0056	210	c.81 others(221): Show c.8121_*8122insAGGGAGGTGGCTGTGTCCCCTGTGCCCTGCTGAG CCCTGGGCGGGGAGGTGGCTGTGTCCCCTGTGCCCTGCTGAGCCCTGGGC GGGGAGGTGGCTGTGTCCCCTGTGCCCTGCTGAGCCCTGGGCAGGGAGGT GGCTGTGTCCCCTGTGCCCTGCTGAGCCCTGGGCGGGGAGGTGGCTGTGT CCCCTGTGCCCTGCTGAGCCCTGGGC	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding		4937		chr20	TogoVar
ZNF517_chr8_144793913_144815084	144811369	C C	CCTGAGAC others(203): Show CCTGAGACAGGGTGGGAGAGACACCGACAGTAAAGCTCAGCCAGGTGCAG ACTGCAGCCTGGAAGCAAAGGCTGAGACAAGGTGGGAGAGACACGGACAG TAAAGCTCAGCCAGGTGCAGACTGCAGCCTGGAAGCAAAGGCTGAGACAG GGTGGGAGAGACACCGACAGTAAAGCTCAGCCAGGTGCAGACTGCAGCCT GGAAGCAAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0048 a0001c0003t0032g0048	1	408	0.0025	210	c.29 others(221): Show c.2974_*2975insCTGAGACAGGGTGGGAGAGACACCGACAGTAAAG CTCAGCCAGGTGCAGACTGCAGCCTGGAAGCAAAGGCTGAGACAAGGTGG GAGAGACACGGACAGTAAAGCTCAGCCAGGTGCAGACTGCAGCCTGGAAG CAAAGGCTGAGACAGGGTGGGAGAGACACCGACAGTAAAGCTCAGCCAGG TGCAGACTGCAGCCTGGAAGCAAAGG	ZNF517	ENSG00000197363.11	transcript	ENST00000359971.4	protein_coding		1286		chr8	TogoVar
ZNF543_chr19_57315472_57335770	57319459	C C	CATATATA others(203): Show CATATATACATATATACACATATACATACATATATACATATATACACATA TACATACATATATACATATATATACATATACATACATATATATACATATA TATACATATACATACATATATACATATATACATATACATACATATATATA CATATATACATATACATACATATATATACATATATATACATATACATACA TATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02559.hp1 HG02809.hp1 HG01891.hp2 HG02559.hp1 HG02809.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0037 a0001c0001t0001 a0003c0003t0037	a0001c0001t0001g0003 a0003c0003t0037g0089 a0001c0001t0001g0003 a0003c0003t0037g0089	3	460	0.0065	210	c.-13 others(221): Show c.-1395_-1394insATATATACATATATACACATATACATACATATAT ACATATATACACATATACATACATATATACATATATATACATATACATAC ATATATATACATATATATACATATACATACATATATACATATATACATAT ACATACATATATATACATATATACATATACATACATATATATACATATAT ATACATATACATACATATATATACAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1012		chr19	TogoVar
ZNF546_chr19_39992060_40026038	39999737	A A	AGCTAATT others(203): Show AGCTAATTTTTTGTATTTTTGTTTGTTTTTTGTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGA CTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC CACCGCGCCCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03516.hp2 HG02257.hp2 HG03516.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0025 a0006c0006t0048 a0006c0006t0025 a0006c0006t0048	a0006c0006t0025g0044 a0006c0006t0048g0045 a0006c0006t0025g0044 a0006c0006t0048g0045	2	244	0.0082	210	c.84+ others(225): Show c.84+1346_84+1347insGTTTGTTTTTTGTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGA CTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC CACCGCGCCCGGCTAATTTTTTGTATTTTT	ZNF546	ENSG00000187187.14	transcript	ENST00000347077.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF644_chr1_90910304_91027035	90950277	A A	AAGGGGAG others(203): Show AAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02965.hp2 HG02080.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0232 a0001c0001t0009g0238 a0001c0001t0002g0232 a0001c0001t0009g0238	2	314	0.0064	210	c.45- others(225): Show c.45-8969_45-8968insCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	ZNF644	ENSG00000122482.22	transcript	ENST00000337393.10	protein_coding	2/5			chr1	TogoVar
ZNF644_chr1_90910304_91027035	90950307	G G	GAGGGGAG others(203): Show GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAAAGAA AAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	314	0.0032	210	c.45- others(225): Show c.45-8999_45-8998insTTTCTTTTCTTTTCTTTTCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	ZNF644	ENSG00000122482.22	transcript	ENST00000337393.10	protein_coding	2/5			chr1	TogoVar
ZNF644_chr1_90910304_91027035	90950307	G G	GAGGGGAG others(203): Show GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02004.hp2 HG00738.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0301 a0001c0001t0002g0252 a0001c0001t0002g0301	2	314	0.0064	210	c.45- others(225): Show c.45-8999_45-8998insTTTCTTTTCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	ZNF644	ENSG00000122482.22	transcript	ENST00000337393.10	protein_coding	2/5			chr1	TogoVar
ZNF681_chr19_23734195_23763891	23761922	T T	TCCTTCCT others(203): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	394	0.0025	210	c.-31 others(221): Show c.-3174_-3173insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGG	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3032		chr19	TogoVar
ZNF7_chr8_144822560_144848772	144838976	T T	TCTTACTT others(203): Show TCTTACTTCCATTCATACCCGCCTAGGGGCTGTGATCTTACTTCCATTCA TATGCGCCTAGGGGCTGTGACCTTACTTCCATTCATATGCGCCTAGGGGC TGTGACCTTACTTCCATTCATATGCCCCTAGGGGCTGTGACCTTACTTCC ATTCATATGCGCCTAGGGGCTGTGACCTTACTTCCATTCATATGCGCCTA GGGGCTGTGAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03540.hp2 HG03486.hp1 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0031 a0001c0004t0061 a0001c0004t0031 a0001c0004t0061	a0001c0004t0031g0038 a0001c0004t0061g0038 a0001c0004t0031g0038 a0001c0004t0061g0038	2	438	0.0046	210	c.247 others(227): Show c.247+1485_247+1486insCCCGCCTAGGGGCTGTGATCTTACTTCC ATTCATATGCGCCTAGGGGCTGTGACCTTACTTCCATTCATATGCGCCTA GGGGCTGTGACCTTACTTCCATTCATATGCCCCTAGGGGCTGTGACCTTA CTTCCATTCATATGCGCCTAGGGGCTGTGACCTTACTTCCATTCATATGC GCCTAGGGGCTGTGACCTTACTTCCATTCATA	ZNF7	ENSG00000147789.16	transcript	ENST00000532777.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZSCAN5A_chr19_56216303_56319839	56237982	C C	CACACGGA others(203): Show CACACGGACACATGGACACACACATGAACACATGGACACACACATAAACA CATGGACACACACGAACACACACCTACACACACGTGGACACACACGGACA CATGGACACACACGAACACATGGACACACACACGGGGACACACACGGACA CACACAGAGACACACACGGACACATGGAAACACACGAACACACACCCACA CACACACACGG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02145.hp2 HG02559.hp2 others(2): Show HG01346.hp1 HG02145.hp2 HG02559.hp2 HG02922.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0153 a0001c0001t0001g0230 a0001c0001t0001g0231 others(2): Show a0001c0001t0001g0153 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0251 a0001c0001t0009g0190	5	362	0.0138	210	c.-12 others(231): Show c.-127-12810_-127-12809insCCGTGTGTGTGTGTGGGTGTGTGT TCGTGTGTTTCCATGTGTCCGTGTGTGTCTCTGTGTGTGTCCGTGTGTGT CCCCGTGTGTGTGTCCATGTGTTCGTGTGTGTCCATGTGTCCGTGTGTGT CCACGTGTGTGTAGGTGTGTGTTCGTGTGTGTCCATGTGTTTATGTGTGT GTCCATGTGTTCATGTGTGTGTCCATGTGTCCGTGT	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ACTRT3_chr3_169761921_169774561	169771201	C C	CATAAATA others(204): Show CATAAATATAAAAATTTATGTTTATATATCATAAATATAAAAATTTATGT TTATATATCATAAATATAAAAATTTATGTTTATATATAATAAATATATAA AAATTTATGTTTATATATAATAAATATATAAAAATTTATGTTTATATATA ATAAATATATAAAAATTTATGTTTATATATAATAAATATATAAAAATTTA TGTTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	418	0.0024	211	c.-16 others(222): Show c.-1682_-1681insTATATATAAACATAAATTTTTATATATTTATTAT ATATAAACATAAATTTTTATATATTTATTATATATAAACATAAATTTTTA TATATTTATTATATATAAACATAAATTTTTATATATTTATTATATATAAA CATAAATTTTTATATTTATGATATATAAACATAAATTTTTATATTTATGA TATATAAACATAAATTTTTATATTTAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1641		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771201	C C	CATAAATA others(204): Show CATAAATATAAAAATTTATGTTTATATATCATAAATATAAAAATTTATGT TTATATATCATAAATATAAAAATTTATGTTTATATATCATAAATATATAA AAATTTATGTTTATATATAATAAATATATAAAAATTTATGTTTATATATA ATAAATATATAAAAATTTATGTTTATATATAATAAATATATAAAAATTTA TGTTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA19011.hp1 NA18963.hp2 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	2	418	0.0048	211	c.-16 others(222): Show c.-1682_-1681insTATATATAAACATAAATTTTTATATATTTATTAT ATATAAACATAAATTTTTATATATTTATTATATATAAACATAAATTTTTA TATATTTATTATATATAAACATAAATTTTTATATATTTATGATATATAAA CATAAATTTTTATATTTATGATATATAAACATAAATTTTTATATTTATGA TATATAAACATAAATTTTTATATTTAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1641		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771232	C C	CATAAATA others(204): Show CATAAATATAAAAATTTATGTTTATATATCATAAATATAAAAATTTATGT TTATATATCATAAATATAAAAATTTATGTTTATATATAATAAATATATAA AAATTTATGTTTATATATAATAAATATATAAAAATTTATGTTTATATATA ATAAATATATAAAAATTTATGTTTATATATAATAAATATATAAAAATTTA TGTTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	418	0.0024	211	c.-17 others(222): Show c.-1713_-1712insTATATATAAACATAAATTTTTATATATTTATTAT ATATAAACATAAATTTTTATATATTTATTATATATAAACATAAATTTTTA TATATTTATTATATATAAACATAAATTTTTATATATTTATTATATATAAA CATAAATTTTTATATTTATGATATATAAACATAAATTTTTATATTTATGA TATATAAACATAAATTTTTATATTTAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1672		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771232	C C	CATAAATA others(204): Show CATAAATATAAAAATTTATGTTTATATATCATAAATATAAAAATTTATGT TTATATATCATAAATATAAAAATTTATGTTTATATATCATAAATATATAA AAATTTATGTTTATATATAATAAATATATAAAAATTTATGTTTATATATA ATAAATATATAAAAATTTATGTTTATATATAATAAATATATAAAAATTTA TGTTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	418	0.0024	211	c.-17 others(222): Show c.-1713_-1712insTATATATAAACATAAATTTTTATATATTTATTAT ATATAAACATAAATTTTTATATATTTATTATATATAAACATAAATTTTTA TATATTTATTATATATAAACATAAATTTTTATATATTTATGATATATAAA CATAAATTTTTATATTTATGATATATAAACATAAATTTTTATATTTATGA TATATAAACATAAATTTTTATATTTAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1672		chr3	TogoVar
ADGRA1_chr10_133082924_133136675	133111305	A A	ACACCTCC others(204): Show ACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGACACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACGGACACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAG ACCACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACAGAC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	368	0.0027	211	c.401 others(228): Show c.401+8463_401+8464insCACCTCCCTCCTAATCCCACCAGACCAC CTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCAC CACGGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACA CCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGACACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACAGAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111675	C C	CACCACAG others(204): Show CACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAG ACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAG ACCACCTGCCCA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0307 a0001c0002t0007g0307	1	368	0.0027	211	c.401 others(228): Show c.401+8833_401+8834insACCACAGACACCTCCCTCCTAATCCCAC CAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCAC CTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCAC CACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCA CCTCCCTCCTAATCCCACCAGACCACCTGCCCA	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111675	C C	CACCACGG others(204): Show CACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGG GCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0024 a0001c0002t0008g0024	1	368	0.0027	211	c.401 others(228): Show c.401+8833_401+8834insACCACGGGCACCTCCCTCCTAATCCCAC CAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCAC CTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCAC CACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACA CCTCCCTCCTAATCCCTCCAGACCACCTGCCCA	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRL3_chr4_61195326_62083335	61847611	T T	TATAATAT others(204): Show TATAATATAAAATATATTATATATAATATAAAATATATATATAATATAAA ATATATTATATATATAATATAAAATATATTATATATATAATACAAAATAT ATTATATATAATACAAAATATATTATATATATAATACAAAATATATTATA TATATATAATATAAAATATATTATATATATAATATAAAATATATTATATA TATAATATAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0041 a0001c0002t0014g0041	1	58	0.0172	211	c.148 others(232): Show c.1480+33722_1480+33723insATAATATAAAATATATTATATATA ATATAAAATATATATATAATATAAAATATATTATATATATAATATAAAAT ATATTATATATATAATACAAAATATATTATATATAATACAAAATATATTA TATATATAATACAAAATATATTATATATATATAATATAAAATATATTATA TATATAATATAAAATATATTATATATATAATATAAAA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26			chr4	TogoVar
ADPRHL1_chr13_113394611_113458488	113413064	G G	GCTCGGTT others(204): Show GCTCGGTTCACCCACCGCCAACAGCGCCCCGCGGAGGCTCGGTTCACCCA CCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCC CGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTC ACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAG CGCCCCGCAGAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0024 a0004c0005t0024	a0004c0005t0024g0062 a0004c0005t0024g0062	1	262	0.0038	211	c.106 others(230): Show c.1062-4845_1062-4844insTTCTGCGGGGCGCTGTTGGCGGTGGG TGAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGC GGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCG GTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGC CTCCGCGGGGCGCTGTTGGCGGTGGGTGAACCGAG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113413099	G G	GCTCGGTT others(204): Show GCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCAC CGCCAACAGCGCCCCGCAGAACTCGGTTCACCCACCGCCAACAGCGCCCC GCGGAGGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTC ACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAG CGCCCCGCAGAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03130.hp1 HG02572.hp2 HG03130.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0097 a0004c0019t0098 a0004c0019t0097 a0004c0019t0098	a0004c0019t0097g0055 a0004c0019t0098g0112 a0004c0019t0097g0055 a0004c0019t0098g0112	2	262	0.0076	211	c.106 others(230): Show c.1062-4880_1062-4879insTTCTGCGGGGCGCTGTTGGCGGTGGG TGAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGC GGGGCGCTGTTGGCGGTGGGTGAACCGAGCCTCCGCGGGGCGCTGTTGGC GGTGGGTGAACCGAGTTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAG CTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AFDN_chr6_167821911_167977023	167976408	G G	GTGTGTTG others(204): Show GTGTGTTGGGAGGAGAAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGGGG GGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGCGGGGAGGAGG AGGCAGTGGGGGTCATTCCCCCTGCAGTGTTGGGGGAGGAGAAGGCAGTG GGGGTCATTCCCCCTGCAGTGTGTGGGGAAGGAGGAGGCAGTGGGGGTCA TTCCCCCAGCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0038 a0001c0032t0001g0038	1	326	0.0031	211	c.64 others(222): Show c.6473_*6474insTGTGTTGGGAGGAGAAGGCAGTGGGGGTCATTCC CCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAG TGTGCGGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTTGGGG GAGGAGAAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAAGGAGG AGGCAGTGGGGGTCATTCCCCCAGCAC	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4386		chr6	TogoVar
AHCYL2_chr7_129220030_129435211	129331679	T T	TAAAAATA others(204): Show TAAAAATACAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18970.hp2 NA18989.hp1 HG00423.hp2 NA18970.hp2 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0210 a0001c0002t0003g0224 a0001c0002t0004g0236 a0001c0002t0003g0210 a0001c0002t0003g0224 a0001c0002t0004g0236	3	292	0.0103	211	c.364 others(230): Show c.364-47946_364-47945insAAATTAGCCGGGCGTAGTGGCGGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAATACAAAAA	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHRR_chr5_316714_443285	318050	C C	CCTCCCCC others(204): Show CCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCTC TCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCC ACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTACACCTCCCCCCATCTTTTACCTCCCT CCCACCCTGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02886.hp1 HG03130.hp2 others(2): Show HG01891.hp1 HG02886.hp1 HG03130.hp2 HG03139.hp1 HG03486.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0001c0001t0013 a0001c0001t0027 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0027 a0004c0003t0010	a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0013g0154 others(2): Show a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0013g0154 a0001c0001t0027g0153 a0004c0003t0010g0157	5	268	0.0187	211	c.-37 others(222): Show c.-3780_-3779insCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCA CCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCC CTCACCTCCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTACACCTCCCCCC ATCTTTTACCTCCCTCCCACCCTGCAT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3663		chr5	TogoVar
AMER2_chr13_25156679_25177288	25159121	A A	ATAATATA others(204): Show ATAATATATTATATATGCTCATATATAATATATTATATATGCTCATATAT AATATATTATATATGCTCATATATAATATATTATATATGCTCATATATAA TATATTATATATGCTCATATATAATATATTATATATGCTCATATATAATA TATTATATATGCTCATATATAATATATTATATATGCGCATATATAATATA TTATATATGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0000 a0001c0001t0069g0000	1	416	0.0024	211	c.10 others(224): Show c.10482_*10483insGAGCATATATAATATATTATATATGCGCATAT ATAATATATTATATATGAGCATATATAATATATTATATATGAGCATATAT AATATATTATATATGAGCATATATAATATATTATATATGAGCATATATAA TATATTATATATGAGCATATATAATATATTATATATGAGCATATATAATA TATTATATATGAGCATATATAATATATTA	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2557		chr13	TogoVar
AMER2_chr13_25156679_25177288	25159121	A A	ATAATATA others(204): Show ATAATATATTATATATGCTCATATATAATATATTATATATGCTCATATAT AATATATTATATATGCTCATATATAATATATTATATATGCTCATATATAA TATATTATATATGCTCATATATAATATATTATATATGCTCATATATAATA TATTATATATGCTCATATATAATATATTATATATGCTCATATATAATATA TTATATATGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	416	0.0024	211	c.10 others(224): Show c.10482_*10483insGAGCATATATAATATATTATATATGAGCATAT ATAATATATTATATATGAGCATATATAATATATTATATATGAGCATATAT AATATATTATATATGAGCATATATAATATATTATATATGAGCATATATAA TATATTATATATGAGCATATATAATATATTATATATGAGCATATATAATA TATTATATATGAGCATATATAATATATTA	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2557		chr13	TogoVar
ANO7_chr2_241183677_241230976	241218129	C C	CGGGGGGG others(204): Show CGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGCAGCGGGGGCGC GTAGGGGCGGGGCGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGG GCAGCGGGGGGCGCGCAGGGGCGGAGCGGGGGCGCGCAGGGGCGGAGCGG GGGCAGCGGGGGGCGCGCAGGGGCGGAGCGGGGGGCGCGCAGGGGCGGAG CGGGGGGCAGCG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0024 a0012c0015t0024	a0012c0015t0024g0354 a0012c0015t0024g0354	1	396	0.0025	211	c.217 others(228): Show c.2179-105_2179-104insGGCAGCGGGGGCGCGCAGGGGCGGGGCG GGGGCAGCGGGGGCGCGTAGGGGCGGGGCGGGGGGGCAGCGGGGGCGCGC AGGGGCGGGGCGGGGGGCAGCGGGGGGCGCGCAGGGGCGGAGCGGGGGCG CGCAGGGGCGGAGCGGGGGCAGCGGGGGGCGCGCAGGGGCGGAGCGGGGG GCGCGCAGGGGCGGAGCGGGGGGCAGCGGGGGG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
APOL3_chr22_36135329_36165755	36165240	T T	TAAAAATT others(204): Show TAAAAATTACTCAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0066 a0001c0003t0001g0066	1	366	0.0027	211	c.-46 others(222): Show c.-4660_-4659insTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTGAGTAATTTTT	APOL3	ENSG00000128284.20	transcript	ENST00000424878.4	protein_coding		4486		chr22	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(204): Show GGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCA CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGAC CACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	246	0.0041	211	c.-18 others(222): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAG TGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTG TGTGGTCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(204): Show GGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCA CCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACA TTTACAGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGAC CACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	246	0.0041	211	c.-18 others(222): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAG TGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTG TGTGGTCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(204): Show GGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCA CCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCAC TTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGAC CACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0125 a0001c0002t0019g0125	1	246	0.0041	211	c.-18 others(222): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGT CACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAG TGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTG TGTGGTCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687652	C C	CCCCCGTG others(204): Show CCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACAC ATTTACAGTGAACACTTCCCACCCCGTGACCACACACTGGCGGTGAGCAC TTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGA CCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACATTTACAGT GAACACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG03486.hp1 HG02622.hp2 HG02647.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0018t0001 a0001c0001t0001 a0001c0018t0001	a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0018t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0018t0001g0230	3	246	0.0122	211	c.-20 others(222): Show c.-2049_-2048insTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGT CACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGGGTGGGAAGT GCTCACTGCTAGTGTGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1807		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687652	C C	CCCCGTGA others(204): Show CCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACA TTTACAGTGAACACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACT TCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGA CCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACATTTACAGT GAACACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	246	0.0041	211	c.-20 others(222): Show c.-2049_-2048insTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGG TCACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGGGTGGGAAG TGCTCACTGCTAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1807		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687758	C C	CCCCGTGA others(204): Show CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGAC CACACATTTACAGTGAGCACTTCCCACCCCTGTGACCACACACTGGCGGT GAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	246	0.0041	211	c.-21 others(222): Show c.-2155_-2154insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGG GGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAG TGCTCACCGCTAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1913		chr8	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(204): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCT CCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	264	0.0038	211	c.102 others(228): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCC CTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ASMTL_chrX_1398139_1457909	1449666	G G	GTAACTAT others(204): Show GTAACTATGCCCCATCATCAAACCCAGTAACTACCCCCCATCACCAGTAA CTATCCACCATCACCAGTAACTATCCCCCATCACCAGTAACTATGCCCCA TCATCACCAGTAACTATCCCCCCATCACCAGTAACTATCTCCCATCAACA GTAACTATCCTCCCATCACCAGTAACTATCCCCACATCACCAGTAACTAC CCCCATCACCAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG01081.hp1 others(6): Show HG00544.hp1 HG00597.hp1 HG01081.hp1 HG01978.hp2 HG01993.hp1 HG02083.hp2 NA18966.hp1 NA18974.hp1 NA18994.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0002 a0004c0010 a0001c0001 a0003c0002 a0004c0010	a0001c0001t0001 a0003c0002t0001 a0004c0010t0001 a0001c0001t0001 a0003c0002t0001 a0004c0010t0001	a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0115 others(6): Show a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0003c0002t0001g0079 a0003c0002t0001g0080 a0004c0010t0001g0082	9	185	0.0487	211	c.93+ others(226): Show c.93+2871_93+3081dupTTGGTGATGGGGGTAGTTACTGGTGATGTG GGGATAGTTACTGGTGATGGGAGGATAGTTACTGTTGATGGGAGATAGTT ACTGGTGATGGGGGGATAGTTACTGGTGATGATGGGGCATAGTTACTGGT GATGGGGGATAGTTACTGGTGATGGTGGATAGTTACTGGTGATGGGGGGT AGTTACTGGGTTTGATGATGGGGCATAGTTA	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	1/12			chrX	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(204): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATGTATCATATATTATATATGATATATATATCA TATATGATATATATGAATATATATATCATATATGATATATATGAATATAT ATATCATATATG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0164 a0002c0001t0006g0164	1	356	0.0028	211	c.924 others(228): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATATTCATATATATCATATATGATATATATATCATA TATAATATATGATACATATATTCATATATATCATATATGATATATATATT CATATATATCATATATGATATATATATTCATATATATCATATATGATATA TATATTCATATATATCATATATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATOSA_chr15_52576321_52684388	52674205	T T	TAAGACCA others(204): Show TAAGACCACATTTTACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGA CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03453.hp1 HG02559.hp2 HG03453.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0195 a0004c0005t0001g0196 a0004c0005t0001g0195 a0004c0005t0001g0196	2	362	0.0055	211	c.16+ others(226): Show c.16+3800_16+3801insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC GCCCGGCTAATTTTTTGTAAAATGTGGTCTT	ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding	2/12			chr15	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GAGGGGGG others(204): Show GAGGGGGGAGGGGGAGGGAGGGGGGAGGGGGAGGGGGAAGGAGAGGGGGG ATGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGG GGAGGGGAGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGAGAG GGGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGG ATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG06807.hp2 HG03516.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0128 a0001c0002t0002g0129	2	298	0.0067	211	c.51+ others(224): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCCTCCCCCATCCCCATCCCCCCTCTCCTTCCCCCTC CCCCTCCCCCCTCCCTCCCCCTCCCCCCT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BCAS3_chr17_60672851_61397831	61045953	A A	AATATATA others(204): Show AATATATATATTATATATATAATATATATATTTATATATATATAATATAT ATATAATATATATATTATATATATATAATATATATATTTATATATATAAT ATATATATTTATATATATATAATATATATATTTATATATATATAATATAT ATATTTATATATATATAATATATATATTTATATATATATAATATATATAT TTATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0014 a0002c0005t0001g0014	1	74	0.0135	211	c.202 others(230): Show c.2029+5062_2029+5063insTATATATATTATATATATAATATATA TATTTATATATATATAATATATATATAATATATATATTATATATATATAA TATATATATTTATATATATAATATATATATTTATATATATATAATATATA TATTTATATATATATAATATATATATTTATATATATATAATATATATATT TATATATATATAATATATATATTTATATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
C1orf159_chr1_1076823_1121089	1077845	A A	AGGCTGAG others(204): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG TGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	326	0.0031	211	c.50 others(222): Show c.5047_*5048insACCCCCCCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGC CTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3977		chr1	TogoVar
CACNA1H_chr16_1148106_1226768	1204783	T T	TGGGGCCC others(204): Show TGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCC CAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAG TGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGG AGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18979.hp1 NA18944.hp2 NA18979.hp1	a0001 a0036 a0001 a0036	a0001c0001 a0036c0103 a0001c0001 a0036c0103	a0001c0001t0002 a0036c0103t0001 a0001c0001t0002 a0036c0103t0001	a0001c0001t0002g0102 a0036c0103t0001g0139 a0001c0001t0002g0102 a0036c0103t0001g0139	2	338	0.0059	211	c.245 others(228): Show c.2452-243_2452-242insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204783	T T	TGGGGCCC others(204): Show TGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCC CAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAG TGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGG AGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03471.hp2 NA18747.hp1 others(5): Show HG02886.hp2 HG03471.hp2 NA18747.hp1 NA18955.hp2 NA18983.hp2 NA18998.hp2 NA19007.hp1 NA20129.hp1	a0001 a0004 a0031 others(2): Show a0001 a0004 a0031 a0046 a0077	a0001c0001 a0004c0019 a0031c0113 others(2): Show a0001c0001 a0004c0019 a0031c0113 a0046c0096 a0077c0048	a0001c0001t0002 a0004c0019t0001 a0031c0113t0018 others(2): Show a0001c0001t0002 a0004c0019t0001 a0031c0113t0018 a0046c0096t0001 a0077c0048t0016	a0001c0001t0002g0055 a0001c0001t0002g0066 a0001c0001t0002g0068 others(5): Show a0001c0001t0002g0055 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0121 a0004c0019t0001g0148 a0031c0113t0018g0214 a0046c0096t0001g0105 a0077c0048t0016g0032	8	338	0.0237	211	c.245 others(228): Show c.2452-243_2452-242insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204821	C C	CGGGTGGG others(204): Show CGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCGA TCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCC GGGGAGGGGTGGGAGCCACGGGTGGGGGCCCCAGATCAGTGCCGGGGAGG GGTGGGAGCCGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0026 a0026	a0026c0128 a0026c0128	a0026c0128t0040 a0026c0128t0040	a0026c0128t0040g0014 a0026c0128t0040g0014	1	338	0.0030	211	c.245 others(228): Show c.2452-243_2452-242insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGGCCCCGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCACGGGTGGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGTGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204875	C C	CAGATCAG others(204): Show CAGATCAGTGCCGGGGAGGGGTGGGAGCCACGGGTGGGGGCCCAGATCAG TGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGG GAGGGGTGGGAGCCGTGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTG GGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGT GGGTGGGGCCCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0203 a0002c0011t0002g0203	1	338	0.0030	211	c.245 others(228): Show c.2452-211_2452-210insACGGGTGGGGGCCCAGATCAGTGCCGGG GAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGTGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCG CGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGTGGGTGGG GCCCTAGATCAGTGCCGGGGAGGGGTGGGAGCC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204875	C C	CAGATCAG others(204): Show CAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAG TGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGG GAGGGGTGGGAGCCGTGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTG GGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGT GGGTGGGGCCCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02809.hp2 HG02965.hp1 others(8): Show HG01884.hp2 HG02809.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03195.hp1 HG03579.hp1 HG06807.hp2 NA19240.hp2 NA20300.hp1	a0002 a0003 a0028 others(1): Show a0002 a0003 a0028 a0063	a0002c0011 a0002c0025 a0002c0043 others(4): Show a0002c0011 a0002c0025 a0002c0043 a0003c0132 a0003c0133 a0028c0049 a0063c0044	a0002c0011t0001 a0002c0011t0002 a0002c0011t0005 others(6): Show a0002c0011t0001 a0002c0011t0002 a0002c0011t0005 a0002c0025t0001 a0002c0043t0001 a0003c0132t0030 a0003c0133t0004 a0028c0049t0004 a0063c0044t0006	a0002c0011t0001g0225 a0002c0011t0001g0289 a0002c0011t0002g0201 others(8): Show a0002c0011t0001g0225 a0002c0011t0001g0289 a0002c0011t0002g0201 a0002c0011t0005g0273 a0002c0025t0001g0223 a0002c0025t0001g0226 a0002c0043t0001g0204 a0003c0132t0030g0278 a0003c0133t0004g0046 a0028c0049t0004g0321 a0063c0044t0006g0126	11	338	0.0325	211	c.245 others(228): Show c.2452-201_2452-200insGCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGTG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGTGGGTGGGGCCCTAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204960	C C	CAGATCAG others(204): Show CAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAG TGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGG AGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0040 a0040	a0040c0100 a0040c0100	a0040c0100t0007 a0040c0100t0007	a0040c0100t0007g0111 a0040c0100t0007g0111	1	338	0.0030	211	c.245 others(228): Show c.2452-154_2452-153insAGATCAGTGCCGGGGAGGGGTGGGAGCC GCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGG GGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAG ATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGC CGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34			chr16	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGTGGG others(204): Show GAAGTGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGAAGCGGGAGG AAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGAGGAAGGGGGGAAGC GGGAGGAAGGGGGGGGAAGTGGGAGGAAGTGGGAGGAAGGGGGAGGAAGG GGGAGGAAGGGGGGAAGCGGGAGGAAGGGGAAGGAAGGGGGAGGAAGGGG GTAAGGGGGGGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG02015.hp2 others(1): Show HG00609.hp1 HG00621.hp1 HG02015.hp2 NA18940.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0153 others(1): Show a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0153 a0005c0008t0001g0116	4	234	0.0171	211	c.207 others(228): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC TCCCACTTCCTCCCACTTCCCCCCCCTTCCTCCCGCTTCCCCCCTTCCTC CCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCCCC CTTCCTCCCATTTCCTCCCCCTTCCTCCCACTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CAMK1D_chr10_12344547_12840545	12694197	T T	TATTATGC others(204): Show TATTATGCATAATATATATTATATATTATATAAAATATATATTATGCATA ATATATATTATATATTATATAAAATATATATTATGCATAATATATATTAT ATAAAATATATATTATGCATAATATATATTATATATTATATAATGTATAA TATATAATATGCATAATATATAATATATATTATATATAATATAAAATATA TATTATGTATAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02055.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0113 a0001c0002t0008g0205 a0001c0002t0008g0113 a0001c0002t0008g0205	2	214	0.0094	211	c.299 others(230): Show c.299+27387_299+27388insATTATGCATAATATATATTATATATT ATATAAAATATATATTATGCATAATATATATTATATATTATATAAAATAT ATATTATGCATAATATATATTATATAAAATATATATTATGCATAATATAT ATTATATATTATATAATGTATAATATATAATATGCATAATATATAATATA TATTATATATAATATAAAATATATATTATGTATAA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10			chr10	TogoVar

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Search Results (Total: 10000 hits)