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
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCC others(201): Show CCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCC TCCCCCCCTCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCC CCTCCTCCT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0216 a0002c0002t0001g0216	1	274	0.0037	208	c.200 others(225): Show c.2004+710_2004+711insTCCTCCTCCCCCCCCTCCTCCTCCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCTCCCCCCCTCCTCCTCCCC CCTCCTCCTCCCCCCCTCCTCCTCCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCT others(201): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCC CCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTC CTCCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCC CCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0242 a0004c0003t0001g0242	1	274	0.0037	208	c.200 others(225): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCT CCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VWC2_chr7_49768638_49926950	49901870	G G	GAACACTG others(201): Show GAACACTGTTTGCTAACACTGTTAGCTAACACTGTTTGCTAACACTGTTA GCTAACACTGTTTGCTAACACTGTTAGCTAACACTGTTTGCTAACACTGT TAGCTAACACTGTTTGCTAACACTGTTAGCTAACACTGTTTGCTAACACT GTTAGCTAACACTGTTTGCTAACACTGTTAGCTAACACTGTTTGCTAACA CTGTTAGCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03486.hp2 HG03516.hp2 others(1): Show HG02922.hp2 HG03486.hp2 HG03516.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0008 a0003c0003t0035 a0001c0001t0008 a0003c0003t0035	a0001c0001t0008g0195 a0001c0001t0008g0197 a0001c0001t0008g0198 others(1): Show a0001c0001t0008g0195 a0001c0001t0008g0197 a0001c0001t0008g0198 a0003c0003t0035g0245	4	256	0.0156	208	c.827 others(227): Show c.827-10121_827-10120insCTGTTAGCTAACACTGTTTGCTAACA CTGTTAGCTAACACTGTTTGCTAACACTGTTAGCTAACACTGTTTGCTAA CACTGTTAGCTAACACTGTTTGCTAACACTGTTAGCTAACACTGTTTGCT AACACTGTTAGCTAACACTGTTTGCTAACACTGTTAGCTAACACTGTTTG CTAACACTGTTAGCTAACACTGTTTGCTAACA	VWC2	ENSG00000188730.5	transcript	ENST00000340652.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
WDR64_chr1_241647281_241807777	241674897	T T	TCCTTCTT others(201): Show TCCTTCTTTCCTCCCTTTCTCCCTCCCTCTCTTCCTTCCTTTCTTCTTCC TTCCCTCCCTCCTTCCTTCTTTCCTTCCTTTTCTCCCTCCCTCCTTCCTG CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCTTCCTTC CTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01081.hp2 HG01168.hp2 others(13): Show HG00438.hp1 HG01081.hp2 HG01168.hp2 HG01934.hp1 HG02071.hp2 HG02132.hp2 HG02135.hp2 HG03669.hp1 HG03704.hp2 NA18941.hp1 NA18943.hp1 NA18950.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19088.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0002 a0004c0005 others(1): Show a0001c0001 a0001c0002 a0004c0005 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0004c0005t0002 a0008c0007t0002	a0001c0001t0001g0036 a0001c0001t0001g0247 a0001c0001t0001g0262 others(13): Show a0001c0001t0001g0036 a0001c0001t0001g0247 a0001c0001t0001g0262 a0001c0001t0001g0307 a0001c0001t0002g0173 a0001c0001t0002g0298 a0001c0001t0004g0092 a0001c0002t0001g0061 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0146 a0001c0002t0002g0261 a0001c0002t0008g0263 a0004c0005t0002g0219 a0008c0007t0002g0091 a0008c0007t0002g0294	16	326	0.0491	208	c.483 others(223): Show c.483+150_483+151insCCTTCTTTCCTCCCTTTCTCCCTCCCTCTC TTCCTTCCTTTCTTCTTCCTTCCCTCCCTCCTTCCTTCTTTCCTTCCTTT TCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTTTCCTTC CTTCCTCCCTCCTTCCTTCCTCCCTCCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
WDR88_chr19_33127114_33180799	33150289	T T	TAAAAATA others(201): Show TAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0228 a0002c0005t0001g0228	1	358	0.0028	208	c.680 others(223): Show c.680-879_680-878insATTAGCCGGGCGTGGTAGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCA ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAATACAAAAA	WDR88	ENSG00000166359.11	transcript	ENST00000355868.4	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF236_chr18_76817557_76977901	76975154	C C	CCTTTTCT others(201): Show CCTTTTCTTTTCTTTTCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	346	0.0029	208	c.68 others(219): Show c.6815_*6816insCTTTTCTTTTCTTTTCTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTT	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding		2254		chr18	TogoVar
ZNF543_chr19_57315472_57335770	57319177	T T	TACATATA others(201): Show TACATATACATACATATACATACATATACATACATATACATACATATACA TACATATACATACATATACATACATATACATACATATACATACATATACA TACATATATACATATACATACATATACATACATATACATACATATACATA CATATACATACATATACATACATATACATACATATATATACATATATACA TATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	460	0.0022	208	c.-16 others(219): Show c.-1677_-1676insACATATACATACATATACATACATATACATACAT ATACATACATATACATACATATACATACATATACATACATATACATACAT ATACATACATATACATACATATATACATATACATACATATACATACATAT ACATACATATACATACATATACATACATATACATACATATACATACATAT ATATACATATATACATATACATAC	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1294		chr19	TogoVar
ABCA7_chr19_1035107_1070572	1049467	G G	GGCCCCCC others(202): Show GGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTG AACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTG AGCCCCCCGACCGCTCCCTCCCTTTGAGCCCCCCCGGACCACTCCCTCCC TGTGAGTTCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCC CTGTGAGCCC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0002 a0008c0006t0002	a0008c0006t0002g0006 a0008c0006t0002g0006	1	30	0.0333	209	c.255 others(224): Show c.2552+30_2552+31insGCCCCCCACCACTCCCTCCCCGTGAACCCC CCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCC CCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCTTTGAGCCC CCCCGGACCACTCCCTCCCTGTGAGTTCCCCACCACTCCCTCCCTGTGAG CCCCCCCACCACTCCCTCCCTGTGAGCCC	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46			chr19	TogoVar
ABCA7_chr19_1035107_1070572	1049667	A A	AGCCCCCC others(202): Show AGCCCCCCGACCGCTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTG TGAGCCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTC CCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTC CCCGTGAAACCCCCCACCACTCCCTCCCCTGTGAACCCCCCACCACTCCC TCCCCGTGAG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0024 a0012c0016t0001g0024	1	30	0.0333	209	c.255 others(226): Show c.2552+230_2552+231insGCCCCCCGACCGCTCCCTCCCCGTGAGG CCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCCGT GAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCG TGAGCCCCCCACCACTCCCTCCCCGTGAAACCCCCCACCACTCCCTCCCC TGTGAACCCCCCACCACTCCCTCCCCGTGAG	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46			chr19	TogoVar
ABR_chr17_998519_1184981	1064407	A A	ACTGTTAT others(202): Show ACTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACGCTGCTGTTA TGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTATGTGAACTGA GGGCTATGCATGTTCCTCCAGACACTGTTGTTATGTGAACTGAGGGCTAT GCATGTTCCTCTAGACGCTGCTGTTATGTGAACTGAGGGCTATGCATGTT CCTCTAGACG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	337	0.0030	209	c.118 others(228): Show c.1182+2669_1182+2670insCGTCTAGAGGAACATGCATAGCCCTC AGTTCACATAACAGCAGCGTCTAGAGGAACATGCATAGCCCTCAGTTCAC ATAACAACAGTGTCTGGAGGAACATGCATAGCCCTCAGTTCACATAACAG TGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAGCAGCGTCTAG AGGAACATGCATAGCCCTCAGTTCACATAACAG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289847	G G	GTCTCTGC others(202): Show GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	295	0.0034	209	c.37 others(220): Show c.3716_*3717insGCAGGGACACGGGACGGAGCAGAGACACGGGACG GAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGG GACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAG ACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGA GCAGAGACACGGGACGGAGCAGAGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2543		chr1	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(202): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAGGGAGGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0084 a0004c0003t0001g0084	1	228	0.0044	209	c.259 others(230): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCC CTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADGRA1_chr10_133082924_133136675	133111178	A A	AACCACCC others(202): Show AACCACCCCTCCTAATCCCACCAGACAACCTGCCCGCCACAGACACCTCC CTCCTAATCCCCCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCACCAGACAACCTGCCCGCCACAGACACCTCCCTCCTAATCCCCCCAG ACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0262 a0001c0001t0022g0262	1	368	0.0027	209	c.401 others(226): Show c.401+8336_401+8337insACCACCCCTCCTAATCCCACCAGACAAC CTGCCCGCCACAGACACCTCCCTCCTAATCCCCCCAGACAACCTGCCCAC CACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCGCCACAGACA CCTCCCTCCTAATCCCCCCAGACAACCTGCCCACCACGGGCACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACAG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111178	A A	AACCACCC others(202): Show AACCACCCCTCCTAATCCCACCAGACAACCTGCCCGCCACAGACACCTCC CTCCTAATCCCCCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAG ACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCCCCAGACAACCTG CCCACCACGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0030 a0001c0001t0028g0030	1	368	0.0027	209	c.401 others(226): Show c.401+8336_401+8337insACCACCCCTCCTAATCCCACCAGACAAC CTGCCCGCCACAGACACCTCCCTCCTAATCCCCCCAGACAACCTGCCCAC CACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCA CCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTC CTAATCCCCCCAGACAACCTGCCCACCACGG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111178	A A	AACCACCC others(202): Show AACCACCCCTCCTAATCCCACCAGACAACCTGCCCGCCATGAGCACCTCC CTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCACCACGGGCACCTCCCTCCTAATGCCTCCAGACCACCTG CCCACCACGG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0064 a0001c0003t0015g0064	1	368	0.0027	209	c.401 others(226): Show c.401+8336_401+8337insACCACCCCTCCTAATCCCACCAGACAAC CTGCCCGCCATGAGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCAC CACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCA CCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTC CTAATGCCTCCAGACCACCTGCCCACCACGG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111307	C C	CCTCCCTC others(202): Show CCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCC ACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACC ACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCC ACCACAGGCA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	368	0.0027	209	c.401 others(226): Show c.401+8466_401+8467insTCCCTCCTAATCCCACCAGACCACCTGC CCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACA GGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTC CCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAA TCCCACCAGACCACCTGCCCACCACAGGCAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
AHNAK2_chr14_104932253_104983374	104933704	G G	GGACGGGA others(202): Show GGACGGGAGGGGCCTGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCG GGAGGGGAGCGGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCGGGGC TGAGTGAGGGGAGGGCGGGAGGGGACCCGCGTCTGAGGGGACCGGGGAGG GCGGGAGGCGACCCGGGGCTGAGTGAGGGGAGGGTGGGAGGGGAGCGGGG CTGAGGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0163 a0006c0006t0002g0163	1	356	0.0028	209	c.43 others(220): Show c.4358_*4359insGTCCCCTCAGCCCCGCTCCCCTCCCACCCTCCCC TCACTCAGCCCCGGGTCGCCTCCCGCCCTCCCCGGTCCCCTCAGACGCGG GTCCCCTCCCGCCCTCCCCTCACTCAGCCCCGGTCCCCTCCCGCCCTCCC CGTCCCCTCAGCCCCCGCTCCCCTCCCGCCCTCCCCGTCCCCTCAGCCCC GCTCCCCTCCCAGGCCCCTCCCGTC	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding		3548		chr14	TogoVar
AHRR_chr5_316714_443285	318050	C C	CCTCCCCC others(202): Show CCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCTC TCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCC TTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCAC CTCCCCCCTCACCTCCCCCCTACACCTCCCCCCATCTTTTACCTCCCTCC CACCCTGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0155 a0001c0001t0050g0155	1	268	0.0037	209	c.-37 others(220): Show c.-3780_-3779insCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCA CCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCC CTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTC CTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTACACCTCCCCCCAT CTTTTACCTCCCTCCCACCCTGCAT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3663		chr5	TogoVar
AJAP1_chr1_4649609_4797534	4740369	T T	TGGGGAGT others(202): Show TGGGGAGTGAGTGTTGATGGGGACAGAGTGGGGGAGGGGGAGGGGGAGTG AGTGTTTGATGGGGACAGTGTGGGGGAGGGGGAGGGGGAGTGAGTGTTTG ATGGGGACAGTGTGGGGGAGGGGGAGGGGGAGTGAGTGAGTGATGGGGAC AGAGTGGGGGAGGGGGAGGGGGAGTGAGTGAGTGATGGGGACAGAGTGGG GGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03209.hp2 HG02809.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0091 a0001c0002t0161 a0001c0002t0091 a0001c0002t0161	a0001c0002t0091g0022 a0001c0002t0161g0326 a0001c0002t0091g0022 a0001c0002t0161g0326	2	334	0.0060	209	c.829 others(228): Show c.829+27698_829+27699insGGGGGAGGGGGAGGGGGAGTGAGTGT TTGATGGGGACAGTGTGGGGGAGGGGGAGGGGGAGTGAGTGTTTGATGGG GACAGTGTGGGGGAGGGGGAGGGGGAGTGAGTGAGTGATGGGGACAGAGT GGGGGAGGGGGAGGGGGAGTGAGTGAGTGATGGGGACAGAGTGGGGGAGG GGGAGGGGGAGTGAGTGTTGATGGGGACAGAGT	AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(202): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGGG GGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGG GAGGGGGGGAGAGGGGGAAGGGGGGAGGGGAGGGGGGAGAGGGGGGAGGA GAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGAGAGAAGGGAGGGGG GGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0328 a0001c0002t0012g0328	1	356	0.0028	209	c.667 others(224): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCCTCCCCCCTCTCCCCCCT CCCCTCCCCCCTTCCCCCTCTCCCCCCCTCCCCTCCCCCTTCCCCCTCTC CCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCCTCCCCCCTCTCCCCCTC TCCCCTCTCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(202): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGGG GGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGG GGAGGGGGGAGAGGGGGAAGGGGGGAGGGGAGGGGGGAGAGGGGGGAGGA GAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGAGAGAAGGGAGGGGG GGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0323 a0001c0002t0012g0323	1	356	0.0028	209	c.667 others(224): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCCTCCCCCCTCTCCCCCCT CCCCTCCCCCCTTCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCTCC CCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCCCTCCCCCCTCTCCCCCTC TCCCCTCTCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGGAG others(202): Show GGGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGG GGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGG GGAGGGGGGAGAGGGGGAAGGGGGGAGGGGAGGGGGGAGAGGGGGGAGGA GAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGAGAGAAGGGAGGGGG GGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0326 a0001c0002t0012g0326	1	356	0.0028	209	c.667 others(224): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCCTCCCCCCTCTCCCCCCT CCCCTCCCCCCTTCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCTCC CCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCCTCCCCCCTCTCCCCCTCT CCCCTCTCCCCCCTCTCCCCCTCTCCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANO1_chr11_70073317_70194530	70122187	C C	CTCTCTGT others(202): Show CTCTCTGTCTCTCCATCTGCCTCTGTCTCTGTCTCTCTCTCCATCTCCCC CACCTCTCTGTCTGTCTCTATCTCTGTCTCTCCATCTGCCTCTGTCTCTG TCTCTCTCTCCATCTCCCCCGCCTCTCTCTGTCTCTCTGTCTCTGTCTCT CCATCTGCCTCTGTCTCTCTCTCTCTCCGTCTCCCCCACCTCTCTCTGTC TGTCTCTCTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG01069.hp2 others(5): Show HG00099.hp2 HG00323.hp1 HG01069.hp2 HG01071.hp2 HG04115.hp1 HG04184.hp2 NA18986.hp2 NA19067.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0015 a0001c0001 a0001c0003 a0005c0015	a0001c0001t0013 a0001c0003t0001 a0001c0003t0006 others(1): Show a0001c0001t0013 a0001c0003t0001 a0001c0003t0006 a0005c0015t0001	a0001c0001t0013g0239 a0001c0003t0001g0254 a0001c0003t0001g0267 others(5): Show a0001c0001t0013g0239 a0001c0003t0001g0254 a0001c0003t0001g0267 a0001c0003t0001g0268 a0001c0003t0001g0273 a0001c0003t0006g0281 a0005c0015t0001g0269 a0005c0015t0001g0270	8	302	0.0265	209	c.898 others(226): Show c.898-2162_898-2161insCTCTGTCTCTCCATCTGCCTCTGTCTCT GTCTCTCTCTCCATCTCCCCCACCTCTCTGTCTGTCTCTATCTCTGTCTC TCCATCTGCCTCTGTCTCTGTCTCTCTCTCCATCTCCCCCGCCTCTCTCT GTCTCTCTGTCTCTGTCTCTCCATCTGCCTCTGTCTCTCTCTCTCTCCGT CTCCCCCACCTCTCTCTGTCTGTCTCTCTAT	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO9_chr11_412938_447011	436905	A A	AGTGGGTG others(202): Show AGTGGGTGAGCGGGAGGTGAGCGGGGAGTGAGCTGGAGATGAGCGGGGGG TGAGCGGGGGGTGAGCGGGGAGTGAGCTGGAGATGAGCGGGGGGTGAGCA GGGGGTGAGCAGGGGGTAAGCAGGGGGTGAGCAGGGGGTGAGCAGGGGGT GAGCAGTGGGTGAGCGGGAGGTGAGCGGGGAGTGAGCTGGAGATGAGCGG GGGGTGAGCG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02683.hp2 HG01168.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0109 a0001c0001t0001g0121	2	286	0.0070	209	c.7-2 others(222): Show c.7-2808_7-2807insCGCTCACCCCCCGCTCATCTCCAGCTCACTCC CCGCTCACCTCCCGCTCACCCACTGCTCACCCCCTGCTCACCCCCTGCTC ACCCCCTGCTTACCCCCTGCTCACCCCCTGCTCACCCCCCGCTCATCTCC AGCTCACTCCCCGCTCACCCCCCGCTCACCCCCCGCTCATCTCCAGCTCA CTCCCCGCTCACCTCCCGCTCACCCAC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	1/22			chr11	TogoVar
APOB_chr2_20996429_21049073	21001219	T T	TTTAATTA others(202): Show TTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAA TTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATA AATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATA TTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAA TTATAAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01261.hp2 others(7): Show HG00738.hp2 HG01167.hp1 HG01261.hp2 HG02300.hp1 HG03669.hp2 NA18945.hp1 NA18950.hp2 NA18955.hp1 NA19085.hp1 NA20752.hp2	a0006 a0022 a0056 a0006 a0022 a0056	a0006c0006 a0006c0095 a0022c0032 others(1): Show a0006c0006 a0006c0095 a0022c0032 a0056c0096	a0006c0006t0001 a0006c0095t0001 a0022c0032t0001 others(1): Show a0006c0006t0001 a0006c0095t0001 a0022c0032t0001 a0056c0096t0001	a0006c0006t0001g0037 a0006c0006t0001g0111 a0006c0006t0001g0132 others(6): Show a0006c0006t0001g0037 a0006c0006t0001g0111 a0006c0006t0001g0132 a0006c0006t0001g0140 a0006c0006t0001g0163 a0006c0006t0001g0181 a0006c0095t0001g0200 a0022c0032t0001g0028 a0056c0096t0001g0173	10	350	0.0286	209	c.51 others(218): Show c.510_*511insTATTTTATAATTAAAATATTTATAATTAAATATTTT ATAATTAAAATATTTATAATTAAATATTTTATAATTAAAATATTTATAAT TAAATATTTTATAATTAAAATATTTATAATTAAATATTTTATAATTAAAA TATTTATAATTAAATATTTTATAATTAAAATATTTATAATTAAATATTTT ATAATTAAAATATTTATAATTAA	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		209		chr2	TogoVar
APOL3_chr22_36135329_36165755	36165240	T T	TAAAAATT others(202): Show TAAAAATTACTCAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	366	0.0027	209	c.-46 others(220): Show c.-4660_-4659insTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTGAGTAATTTTT	APOL3	ENSG00000128284.20	transcript	ENST00000424878.4	protein_coding		4486		chr22	TogoVar
ARFRP1_chr20_63693647_63712976	63693684	A A	ACCTCCAC others(202): Show ACCTCCACCTCCACCTCCACCACCACCACCTCCACCACCTCCACCACCAC CACCTCCACCTCCACCACGTCCACCACCTCCACCACCACCTCCACCACCA CCTCCACCACCTCCACCACCACCACCTCCACCTCCACCTCCACCTCCACC TCCACCACCACCACCACCCCCCACCACCACCACCACCACCCACCTCCACC TCCACCACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	296	0.0034	209	c.67 others(220): Show c.6758_*6759insACGTGGTGGAGGTGGAGGTGGGTGGTGGTGGTGG TGGTGGGGGGTGGTGGTGGTGGTGGAGGTGGAGGTGGAGGTGGAGGTGGA GGTGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAGG TGGTGGACGTGGTGGAGGTGGAGGTGGTGGTGGTGGAGGTGGTGGAGGTG GTGGTGGTGGAGGTGGAGGTGGAGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4962		chr20	TogoVar
ARHGAP19_chr10_97217179_97297637	97251587	G G	GGAAAGAA others(202): Show GGAAAGAAAGGGAGAGGGAGGGGGCAGGGAAGGGAAGGGGAAGGGAAGGG GAATGGAAGAGGAAGGAAGGGGAAGGAAGGGGAATGGAAAGGAAGGGGAA GGGGAAGGGAAGGGAAAGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGG AAAGGAAGGGGAAGGGAAAGGAAGGGGGAGGGAAAGGAAAGGGGAATGGA AGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01123.hp1 HG01192.hp2 others(3): Show HG01071.hp1 HG01123.hp1 HG01192.hp2 HG01358.hp1 HG01358.hp2 HG02300.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0005c0007t0006	a0001c0001t0002g0011 a0001c0001t0006g0008 a0001c0001t0006g0009 others(3): Show a0001c0001t0002g0011 a0001c0001t0006g0008 a0001c0001t0006g0009 a0001c0001t0006g0010 a0001c0001t0014g0013 a0005c0007t0006g0007	6	242	0.0248	209	c.927 others(226): Show c.927+4730_927+4731insTCCCTTCCCTTCCATTCCCCTTTCCTTT CCCTCCCCCTTCCTTTCCCTTCCCCTTCCTTTCCCCTTCCCCTCCCCCTT CCCCTCCCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCCTTCCTTTCCATT CCCCTTCCTTCCCCTTCCTTCCTCTTCCATTCCCCTTCCCTTCCCCTTCC CTTCCCTGCCCCCTCCCTCTCCCTTTCTTTC	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGDIG_chr16_275591_288010	285931	C C	CCCCAACC others(202): Show CCCCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCC AACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACC CCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCA ACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACC CCGCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	442	0.0023	209	c.31 others(220): Show c.3117_*3118insCCCAACCCCAACACCAACCCCGCGGTTCTCCCAA CCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCC GCGGTTCTCCCAACCCCAACCCCAACACCAACCCCGCGGTTCTCCCAACC CCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGTT CTCCCAACCCCAACCCCGCGGTTCT	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2922		chr16	TogoVar
ARHGDIG_chr16_275591_288010	285983	T T	TCCCAACC others(202): Show TCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGT TCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGG TTCTCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0007 a0001c0001t0014g0007	1	442	0.0023	209	c.31 others(220): Show c.3169_*3170insCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAA CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCC AACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCA ACCCCAACCCCGCGGTTCTCCCAAC	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2974		chr16	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(202): Show CCTCCCCCTCCCCCTCCCCCCCCTCCCCTCTCCCTTCCCCCTCCCTCCCC TCCCTCCCCCCTCCCCTCCCCCTCCCTCCCCCTTCCCCCTCCCCCTCCCC CTCCCCCTACCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	264	0.0038	209	c.102 others(226): Show c.1024+318_1024+319insTCCCCCCCCTCCCCTCTCCCTTCCCCCT CCCTCCCCTCCCTCCCCCCTCCCCTCCCCCTCCCTCCCCCTTCCCCCTCC CCCTCCCCCTCCCCCTACCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCC CCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(202): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCCTCCCCCTCTCC CCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	264	0.0038	209	c.102 others(226): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCT CCCCCCTCCCCCTCCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCTCCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASAP1_chr8_130047104_130448674	130049773	A A	AGGGGAAC others(202): Show AGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAAC ACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGG GCAGAGGGGAATACATGGGGGGCAGAGGGGAATACATGGGGGCAGAGGGG GAACACATGGGGGGCAGAGGGGAATACATGGAGGGCAGAGGGGAACACAT GGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0032 a0002c0003t0001g0032	1	308	0.0033	209	c.49 others(220): Show c.4957_*4958insCTCTGCCCCCATGTGTTCCCCTCTGCCCTCCATG TATTCCCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTATTCCCC TCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCC CATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTT CTCCTCTGCCCCCCATGTGTTCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2330		chr8	TogoVar
ATP11A_chr13_112685038_112892168	112804200	C C	CCCTCCTT others(202): Show CCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCC TTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCT CCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCC CTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCAT CCCCTCTCTG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0057 a0001c0002t0057	a0001c0002t0057g0126 a0001c0002t0057g0126	1	254	0.0039	209	c.163 others(224): Show c.163-755_163-754insTCCTTCACCTCCCTCCCCCCATCCCCTCTC TGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCC CATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCAC CTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTT CACCTCCCTCCCCCCATCCCCTCTCTGCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
AXIN1_chr16_282440_357723	285931	C C	CCCCAACC others(202): Show CCCCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCC AACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACC CCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCA ACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACC CCGCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0105 a0001c0005t0003g0105	1	378	0.0027	209	c.21 others(220): Show c.2190_*2191insAGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGG GTTGGGGTTGGGGTTGGGGTTGGGGTTGGGGTTGGGGTTGGGGTTGGGAG AACCGCGGGGTTGGTGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGG GTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGAGAA CCGCGGGGTTGGTGTTGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1508		chr16	TogoVar
AXIN1_chr16_282440_357723	285983	T T	TCCCAACC others(202): Show TCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGT TCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGG TTCTCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0037 a0003c0008t0037	a0003c0008t0037g0273 a0003c0008t0037g0273	1	378	0.0027	209	c.21 others(220): Show c.2138_*2139insGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGG GGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGAGAACCGC GGGGTTGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGG AGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTG GGAGAACCGCGGGGTTGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1456		chr16	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(202): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTG CAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTC CTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0073 a0001c0003t0001g0073	1	391	0.0026	209	c.36 others(220): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCC GACGCGTGCAGCCTCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
B4GALNT4_chr11_364499_387117	374933	G G	GAGGGAGG others(202): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAGGAAGGGAGGGAGGGGGAAGGGA GGGAGGGGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	184	0.0054	209	c.784 others(224): Show c.784-521_784-520insAGGAAGGGAGGGAGGAGGAGGAAGGGAGGG AGGGGGAAGGGAGGGAGGGGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAG3_chr10_119646380_119682819	119675871	C C	CCTTCCCC others(202): Show CCTTCCCCCTTCCCTCCTTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCC CTTCCCCCTTGCCCCTTCCCCCTTCCCTCCTTCCTTCCTTCCTGCCCCCT TCCCCCTTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCC CCTTCCCCCTTTCCCCCCTTCCCCCCTTCCCCTTTTCCCCCCTTCCCCCC TTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0312 a0001c0001t0006g0312	1	420	0.0024	209	c.910 others(224): Show c.910-592_910-591insTTCCCCCTTCCCTCCTTCCTTCCTTCCTGC CCCCTTCCCCCTTGCCCCCTTCCCCCTTGCCCCTTCCCCCTTCCCTCCTT CCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCCCCCTTGCCCCCTTC TCCCCTTCCTTCCTTCCCCCTTCCCCCTTTCCCCCCTTCCCCCCTTCCCC TTTTCCCCCCTTCCCCCCTTCCTTCCTTC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(202): Show GGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGAGGGAGAGGGGGGAGGGG GGAGGGGGAGGGGGAGGGAGAGGGGGGATGGGGATGGGGGGAGGGGAGGG AGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGAGGGGGGAGGGGAGGG GGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGTGGAT GGACTGGGGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0236 a0001c0004t0018g0236	1	298	0.0034	209	c.51+ others(222): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCTCCCCCCATCCCCA TCCCCCCTCTCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCTCCTC CCCCTCCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(202): Show GGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGAGGG GGGAGGGGGAGGGGGAGGGAGAGGGGGGATGGGGATGGGGGAGGGGAGGG AGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGG GGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGTGGAT GGACTGGGGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0238 a0001c0004t0003g0238	1	298	0.0034	209	c.51+ others(222): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCTCCCCTCCCCCATCCCCAT CCCCCCTCTCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCTCCCTC CCCCTCCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(202): Show GGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGAGGG GGGAGGGGGAGGGGGAGGGAGAGGGGGGATGGGGATGGGGGAGGGGAGGG AGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGG GGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGTGGAT GGACTGGGGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0249 a0001c0004t0003g0249	1	298	0.0034	209	c.51+ others(222): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCTCCCCCCCTCCCCCTCCCTCCCCTCCCCCATCCCCAT CCCCCCTCTCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCTCCCTC CCCCTCCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(202): Show GGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGGAGG GGGGAGGGGGAGGGGGAGGGAGAGGGGGGATGGGGATGGGGGAGGGGAGG GAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGG GGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGTGGAT GGACTGGGGA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0258 a0001c0004t0003g0258	1	298	0.0034	209	c.51+ others(222): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCTCCCCCATCCCCATC CCCCCTCTCCCTCCCCCTCCCCCTCCCCCCTCCCCCCCTCTCCCTCCCTC CCCCTCCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(202): Show GGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGGAGGGAGAGGGGGGAGG GGGGAGGGGGAGGGGGAGGGAGAGGGGGGATGGGGATGGGGGAGGGGAGG GAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGG GGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGTGGAT GGACTGGGGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0259 a0001c0003t0003g0259	1	298	0.0034	209	c.51+ others(222): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCTCCCCCATCCCCATC CCCCCTCTCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCTCCCCTC CCCCTCCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BDH1_chr3_197504783_197560968	197517527	C C	CTTCCTGC others(202): Show CTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCGACCCCCCCATCAGT CACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCGACCCCCCCAATC AGTCACTTCCTGCTCTATGGTCTCCATCCCCCTTCAGGCCGACCCCCCCA TCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCAACCCCCT CATCAGTCAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0200 a0001c0001t0200	a0001c0001t0200g0059 a0001c0001t0200g0059	1	319	0.0031	209	c.410 others(226): Show c.410-3112_410-3111insATGACTGATGAGGGGGTTGGCCTGAGGG GGGATGGAGACCATAGAGCAGGAAGTGACTGATGGGGGGGTCGGCCTGAA GGGGGATGGAGACCATAGAGCAGGAAGTGACTGATTGGGGGGGTCGGCCT GAGGGGGGATGGAGACCATAGAGCAGGAAGTGACTGATGGGGGGGTCGGC CTGAGGGGGGATGGAGACCATAGAGCAGGAA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BTNL9_chr5_181035266_181066521	181046000	C C	CCCCAGCC others(202): Show CCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCT CCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCC AACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTC CCCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCT CCACCATCTG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	390	0.0026	209	c.109 others(224): Show c.109+610_109+611insGCCCAGCCCCCAACACCTCCTCCACCATCT CCCCAGCCTGTAGTGTTCCTCCACCATCTCCCCAGCCCCCAACACCTCCT CCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCC AACACCTCCTCCACCATCTCCCCAGCCTCCAACACCTCCTCCACCATCTC CCCAGCCCCCAACACCTCCTCCACCATCT	BTNL9	ENSG00000165810.17	transcript	ENST00000327705.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
C20orf96_chr20_265863_295750	278941	C C	CGGGACGG others(202): Show CGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAG GGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGG ACGGAGGGAGGGCGGGACGGAGGGCGGGGAGGGCGGGACGGAGGGAGGGA GGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGG GCGGGACGGA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0169 a0002c0002t0001g0169	1	410	0.0024	209	c.465 others(224): Show c.465+230_465+231insTCCGTCCCGCCCTCCCTCCCTCCGTCCCGC CCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCC TCCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCG CCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCGCCCTCCCTCCCTCCGTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2CD4C_chr19_400445_414147	400459	G G	GCAGGGGT others(202): Show GCAGGGGTCCCCAGGCCCACCCTCACTCTTCCAGGGTTCCCAGGCCCACC CTCACTCTTCCAGGGGTCCCCAGGCCCACCCTCACTCTTCCAGGGGTCCC CAGGCCCACCCTCACTCTTGCAGGGGTCCCCAGGCCCACCCTCACTCTTG CAGGGGTTCCCAGGCCCACCCTCACTCTTGCAGGGGTCCCCAGGCCCACC CTCACTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0004 a0001c0004t0004g0004	1	322	0.0031	209	c.66 others(220): Show c.6636_*6637insGAAGAGTGAGGGTGGGCCTGGGGACCCCTGCAAG AGTGAGGGTGGGCCTGGGAACCCCTGCAAGAGTGAGGGTGGGCCTGGGGA CCCCTGCAAGAGTGAGGGTGGGCCTGGGGACCCCTGGAAGAGTGAGGGTG GGCCTGGGGACCCCTGGAAGAGTGAGGGTGGGCCTGGGAACCCTGGAAGA GTGAGGGTGGGCCTGGGGACCCCTG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		4985		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1205036	G G	GGGGCCCC others(202): Show GGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCC AGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGT GCCGGGGAGGGGTGGGAGCCGCGGGTGGGGACCCAGATCAGTGCCGGGGA GGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0237 a0002c0007t0002g0237	1	338	0.0030	209	c.245 others(224): Show c.2452-75_2452-74insCCCCAGATCAGTGCCGGGGAGGGGTGGGAG CCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGT GGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGACCC AGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGT GCCGGGGAGGGGTGGGAGCCGCGGGTGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN11_chr6_44153820_44189401	44182285	C C	CCACACAC others(202): Show CCACACACACACACACATACACACTCACATACAGACACAACCACACCACA CACACACATACACACTCACATACAGACACAACCACACCACACACACACAC ACATACACACTCACATACAGACACAACCACACCACACACACACACACACA GACACAACCACACCACACACACACACACATACACACTCACATACAGATAC AACCACACCA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp2 NA19091.hp1 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0263 a0002c0002t0001g0344 a0002c0002t0001g0263 a0002c0002t0001g0344	2	460	0.0044	209	c.193 others(226): Show c.1939-640_1939-639insTACACACTCACATACAGACACAACCACA CCACACACACACATACACACTCACATACAGACACAACCACACCACACACA CACACACATACACACTCACATACAGACACAACCACACCACACACACACAC ACACAGACACAACCACACCACACACACACACACATACACACTCACATACA GATACAACCACACCACACACACACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar

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Search Results (Total: 10000 hits)