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
ABAT_chr16_8669617_8789570	8737989	G G	GAAGAAAG others(93): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0351 a0002c0002t0006g0351	1	362	0.0028	100	c.70+ others(115): Show c.70+2181_70+2182insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGAAAG others(93): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0168 a0002c0002t0008g0168	1	362	0.0028	100	c.70+ others(115): Show c.70+2181_70+2182insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69177973	A A	ATATATAT others(93): Show ATATATATATATATATATGTTATATATATATATATATATATGTTATATAT ATATATATATATGTTATATATATATATATATGTTATATATATATATATAT G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0016 a0003c0003t0016	a0003c0003t0016g0308 a0003c0003t0016g0308	1	348	0.0029	100	c.277 others(119): Show c.2770-2461_2770-2460insCATATATATATATATATAACATATAT ATATATATATAACATATATATATATATATATAACATATATATATATATAT ATATAACATATATATATATATATA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/38			chr17	TogoVar
ABCA1_chr9_104776006_104933155	104862689	C C	CCCCACCC others(93): Show CCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCC CCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCC A	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0022 a0010c0030t0022	a0010c0030t0022g0191 a0010c0030t0022g0191	1	318	0.0031	100	c.422 others(115): Show c.422-890_422-889insTGGGGGTGGGGGTGGGGGTGGGGGTGGGGG TGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTG GGGGTGGGGGTGGGGGTGGG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(93): Show TATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAA TATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATA G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	306	0.0033	100	c.130 others(119): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCC4_chr13_95014835_95306451	95126732	T T	TATATATA others(93): Show TATATATATATTCCAAAATATATATATATATATATATATTCCAAAATATA TATATATATATATATATTCCAAAATATATATATATATATATATATTCCAA A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0077 a0001c0003t0005g0077	1	248	0.0040	100	c.245 others(121): Show c.2456-10732_2456-10731insTTTGGAATATATATATATATATAT ATATTTTGGAATATATATATATATATATATATTTTGGAATATATATATAT ATATATATATTTTGGAATATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244640	A A	AGAAGGAA others(93): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAACGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA G	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	248	0.0040	100	c.306 others(117): Show c.306+2334_306+2335insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCGTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244644	A A	AGAAGGAA others(93): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAACGAAGGAAGGAAGGAA G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0128 a0001c0009t0001g0128	1	248	0.0040	100	c.306 others(117): Show c.306+2330_306+2331insCTTCCTTCCTTCCTTCGTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244652	A A	AGAAGGAA others(93): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAACG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0007 a0007	a0007c0043 a0007c0043	a0007c0043t0009 a0007c0043t0009	a0007c0043t0009g0097 a0007c0043t0009g0097	1	248	0.0040	100	c.306 others(117): Show c.306+2322_306+2323insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCGTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABHD13_chr13_108213392_108239243	108215427	C C	CCTCCCAA others(93): Show CCTCCCAACCCCCCACCCCCCCGCCCCCACCTCCCAACCCCCCACCCCCC CGCCCCCACCTCCCAACCCCCCACCCCCCCCGCCCCCACCTCCCAACCCC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01168.hp1 HG00639.hp2 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0021 a0001c0001t0006 a0001c0001t0021	a0001c0001t0006g0008 a0001c0001t0021g0025 a0001c0001t0006g0008 a0001c0001t0021g0025	2	390	0.0051	100	c.-32 others(111): Show c.-3253_-3252insCTCCCAACCCCCCACCCCCCCGCCCCCACCTCCC AACCCCCCACCCCCCCGCCCCCACCTCCCAACCCCCCACCCCCCCCGCCC CCACCTCCCAACCCCT	ABHD13	ENSG00000139826.6	transcript	ENST00000375898.4	protein_coding		2964		chr13	TogoVar
ABHD13_chr13_108213392_108239243	108215427	C C	CCTCCCAA others(93): Show CCTCCCAACCCCCCCACCCCCCCGCCCCCACCTCCCAACCCCCCACCCCC CCGCCCCCACCTCCCAACCCCCCACCCCCCCGCCCCCACCTCCCAACCCC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	390	0.0026	100	c.-32 others(111): Show c.-3253_-3252insCTCCCAACCCCCCCACCCCCCCGCCCCCACCTCC CAACCCCCCACCCCCCCGCCCCCACCTCCCAACCCCCCACCCCCCCGCCC CCACCTCCCAACCCCT	ABHD13	ENSG00000139826.6	transcript	ENST00000375898.4	protein_coding		2964		chr13	TogoVar
ABHD5_chr3_43685938_43727725	43700732	C C	CCCAGCTA others(93): Show CCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01255.hp2 HG01952.hp1 others(3): Show HG01081.hp1 HG01255.hp2 HG01952.hp1 HG01978.hp1 NA18942.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0152 a0001c0002t0005g0154 a0001c0002t0005g0155 others(3): Show a0001c0002t0005g0152 a0001c0002t0005g0154 a0001c0002t0005g0155 a0001c0002t0005g0156 a0001c0002t0005g0157 a0001c0002t0005g0162	6	286	0.0210	100	c.133 others(117): Show c.133+1384_133+1385insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGGGACCAGCTAATTTTT	ABHD5	ENSG00000011198.10	transcript	ENST00000644371.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABLIM2_chr4_7960327_8163813	8091544	A A	ATAATATA others(93): Show ATAATATATACATATATATTATATACATACATAATATATATTATATACAT AATATATAATATACATATACATATATATTATAATATACATATATATTACA T	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	322	0.0031	100	c.339 others(117): Show c.339-3261_339-3260insATGTAATATATATGTATATTATAATATA TATGTATATGTATATTATATATTATGTATATAATATATATTATGTATGTA TATAATATATATGTATATATTA	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	3/20			chr4	TogoVar
ACACB_chr12_109111587_109273226	109210235	A A	ATATATAC others(93): Show ATATATACACACACGTGTGTATATGTATATATACACACACGTGTGTATAT GTATATATACACACACGTGTGTATATGTATATATACACACATATCTGTGT G	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA20752.hp1 HG01515.hp2 NA20752.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0100 a0001c0023t0001g0122 a0001c0023t0001g0100 a0001c0023t0001g0122	2	308	0.0065	100	c.324 others(117): Show c.3249+887_3249+888insACACACACGTGTGTATATGTATATATAC ACACACGTGTGTATATGTATATATACACACACGTGTGTATATGTATATAT ACACACATATCTGTGTGTATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1288309	T T	TCCCCCGT others(93): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCCCGAGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTC C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	295	0.0034	100	c.52 others(111): Show c.5254_*5255insGGACGGGGCAGAGACACGGGGGACGGGGCAGAGA CTCGGGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGG AGCAGAGACACGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4081		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288719	T T	TCCCCCGT others(93): Show TCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	295	0.0034	100	c.48 others(111): Show c.4844_*4845insGGACGGAGCAGGGACACGGGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGG AGCAGGGACACGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3671		chr1	TogoVar
ACOX1_chr17_75936507_75984166	75967726	A A	ATATACAC others(93): Show ATATACACGTGTATATATATACGTATATATATATACACGTATATATATAT ATATACGTATATATATATACGTATATATATATATACGTGTATATATATAT G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0311 a0002c0002t0001g0311	1	344	0.0029	100	c.270 others(117): Show c.270-7352_270-7351insCATATATATATACACGTATATATATATA TACGTATATATATATACGTATATATATATATATACGTGTATATATATATA CGTATATATATACACGTGTATA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACR_chr22_50733204_50750339	50748886	A A	ATCCGAGG others(93): Show ATCCGAGGAGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCAACTAGAC AATCTGAGGGGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	464	0.0022	100	c.36 others(111): Show c.3679_*3680insTCCGAGGAGTGTGCCCACCTAGACATCCGAGGGG TGTGCCCAACTAGACAATCTGAGGGGTGTGCCCACCTAGACATCCGAGGG GTGTGCCCACCTAGAC	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3548		chr22	TogoVar
ACR_chr22_50733204_50750339	50748886	A A	ATCCGAGG others(93): Show ATCCGAGGGGTGTGCCCACCTAGACAATCTGAGGGGTGTGCCCACCTAGA CATCCGAGGGGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	464	0.0022	100	c.36 others(111): Show c.3679_*3680insTCCGAGGGGTGTGCCCACCTAGACAATCTGAGGG GTGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGACATCCGAGGG GTGTGCCCACCTAGAC	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3548		chr22	TogoVar
ACTN4_chr19_38642649_38736589	38735878	G G	GGGGCGGG others(93): Show GGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGTGGTTCTG CGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGTGGTTCTG C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0221 a0001c0001t0004g0221	1	314	0.0032	100	c.64 others(111): Show c.6446_*6447insGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGC GGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGC GGGGCGGTGGTTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4290		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735917	C C	CGGGGCGG others(93): Show CGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGG CGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGCGGGGCGGGGGTTCT G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 NA20129.hp2 HG03516.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0269 a0001c0001t0020g0277 a0001c0001t0020g0269 a0001c0001t0020g0277	2	314	0.0064	100	c.64 others(111): Show c.6485_*6486insGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGTG GTTCTGCGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGG CGGGGCGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4329		chr19	TogoVar
ACYP2_chr2_53966113_54310300	54304217	T T	TTGGTCAA others(93): Show TTGGTCAAGAATTATGGTGGCGGGGGGGTCGAGGGGGGGATGGTGTAGTT GGTGTAGAGATGGAAGGGCTCGGGGGTCGGAGGGTGGGTAGTGGGGTGGT G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	272	0.0037	100	c.405 others(115): Show c.405-471_405-470insTGGTCAAGAATTATGGTGGCGGGGGGGTCG AGGGGGGGATGGTGTAGTTGGTGTAGAGATGGAAGGGCTCGGGGGTCGGA GGGTGGGTAGTGGGGTGGTG	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6			chr2	TogoVar
ADAM9_chr8_38991973_39110261	39045384	A A	ACGTGTGT others(93): Show ACGTGTGTGTACACACACCTATAGGTGTGTGTACACACACCTATATGTGC GTGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGT G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0189 a0002c0002t0002g0189	1	332	0.0030	100	c.130 others(119): Show c.1302+3267_1302+3268insCGTGTGTGTACACACACCTATAGGTG TGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCG TGTGTGTACACACACCTATATGTG	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21			chr8	TogoVar
ADAM9_chr8_38991973_39110261	39045385	G G	GGTGTGTC others(93): Show GGTGTGTCTACACACACCTATATGTACGTGTGTACACACACCTATATGTG CGTGTGTGTACACACCTATATGTGCGTGTGTGTACACACACCTATATGTG C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp2 HG01070.hp2 others(13): Show HG00280.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG02109.hp2 HG02132.hp1 HG02559.hp2 HG02922.hp1 HG02970.hp1 HG03710.hp2 NA18963.hp1 NA18988.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0209 others(13): Show a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0209 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0259 a0001c0001t0001g0303 a0001c0001t0001g0305	16	332	0.0482	100	c.130 others(119): Show c.1302+3274_1302+3275insCTACACACACCTATATGTACGTGTGT ACACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTGTGT ACACACACCTATATGTGCGTGTGT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM9_chr8_38991973_39110261	39045473	C C	CACACACC others(93): Show CACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGTGTG TACACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTGTG T	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18960.hp2 NA19063.hp1 HG03927.hp1 NA18960.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0060 a0001c0001t0001g0092 a0001c0001t0001g0040 a0001c0001t0001g0060 a0001c0001t0001g0092	3	332	0.0090	100	c.130 others(119): Show c.1302+3378_1302+3379insGTACACACACCTATATGTGCGTGTGT GTACACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTGT GTACACACCTATATGTGCGTGTGT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS12_chr5_33518535_33896990	33848958	C C	CTATATAT others(93): Show CTATATATATGTATTGCATAGCAATATATATATATGTATTGCATAGCAAT ATATATATATGTATTGCATAGCAATATATATATATGTATTGCATAGCAAT A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03017.hp2 NA18999.hp2 others(1): Show HG01257.hp2 HG03017.hp2 NA18999.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0040 a0001c0001 a0002c0004 a0002c0040	a0001c0001t0001 a0002c0004t0002 a0002c0040t0003 a0001c0001t0001 a0002c0004t0002 a0002c0040t0003	a0001c0001t0001g0135 a0001c0001t0001g0138 a0002c0004t0002g0150 others(1): Show a0001c0001t0001g0135 a0001c0001t0001g0138 a0002c0004t0002g0150 a0002c0040t0003g0137	4	224	0.0179	100	c.489 others(119): Show c.489+32061_489+32160dupTATTGCTATGCAATACATATATATAT ATTGCTATGCAATACATATATATATATTGCTATGCAATACATATATATAT ATTGCTATGCAATACATATATATA	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS15_chr11_130443645_130481645	130470128	A A	ATATATAT others(93): Show ATATATATATATATATATACACACATGTATATATATATATATATACACAC ATGTATATATATATATATACACACATGTATATATATATATATACACACGT G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0356 a0001c0001t0005g0356	1	398	0.0025	100	c.172 others(117): Show c.1720+693_1720+694insTATATATATATATACACACATGTATATA TATATATATATACACACATGTATATATATATATATACACACATGTATATA TATATATATACACACGTGTATA	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130470145	T T	TACACACA others(93): Show TACACACATGTATATATATATATATATACACACATGTATATATATATATA TACACACATGTATATATATATATATACACACATGTATATATATATATATA C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0016 a0001c0031t0016	a0001c0031t0016g0214 a0001c0031t0016g0214	1	398	0.0025	100	c.172 others(117): Show c.1720+707_1720+708insCACACATGTATATATATATATATATACA CACATGTATATATATATATATACACACATGTATATATATATATATACACA CATGTATATATATATATATACA	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
ADAMTS2_chr5_179105853_179350461	179331396	T T	TGGAGGGA others(93): Show TGGAGGGAGAGGAGGGGGAAGGGAGGGAGAGGAGGGGGAAGGGAGGGAGA GGAGGGGGAAGGGAGGGAGAGGAGGGGGAAGGGAAGGAGAGGAGGGGGAA G	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	276	0.0036	100	c.534 others(119): Show c.534+12370_534+12371insCTTCCCCCTCCTCTCCTTCCCTTCCC CCTCCTCTCCCTCCCTTCCCCCTCCTCTCCCTCCCTTCCCCCTCCTCTCC CTCCCTTCCCCCTCCTCTCCCTCC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72455988	C C	CAGTATAT others(93): Show CAGTATATATACTATATATATTTTACATATAGTATATATACTATATATAT TTTACATATAGTATATATACTATATATATTTTACATATAGTATATATACT A	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	182	0.0055	100	c.505 others(119): Show c.505-41018_505-41017insTAGTATATATACTATATGTAAAATAT ATATAGTATATATACTATATGTAAAATATATATAGTATATATACTATATG TAAAATATATATAGTATATATACT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72529978	A A	ATATATAA others(93): Show ATATATAATATATTATATTTATATATATATAATATATTATATTTATATAT AATATATAATATATTATATTTATATATATATAATATATTATATTTATATA T	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0145 a0001c0001t0028g0145	1	182	0.0055	100	c.504 others(119): Show c.504+18499_504+18500insATATATAAATATAATATATTATATAT ATATAAATATAATATATTATATATTATATATAAATATAATATATTATATA TATATAAATATAATATATTATATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72530056	A A	AATATATA others(93): Show AATATATAATATATTATATTTATATATATATATAATATATTATATTTATA TATAATATATAATATATTATATTTATATATAATATATAATATATTATATT T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp2 HG02976.hp1 others(2): Show HG02280.hp2 HG02572.hp2 HG02976.hp1 HG03130.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 others(2): Show a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0006t0001g0154 a0001c0006t0001g0157	5	182	0.0275	100	c.504 others(119): Show c.504+18421_504+18422insAAATATAATATATTATATATTATATA TAAATATAATATATTATATATTATATATAAATATAATATATTATATATAT ATATAAATATAATATATTATATAT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS6_chr5_65143738_65486920	65230302	A A	ATGAAATA others(93): Show ATGAAATATATATAATACATTATATATATGAAATATATATAATACATTAT ATATATGAAATATATATAATACATTATATATATGAAATATATATAATACA T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01516.hp1 HG01993.hp1 others(6): Show HG01106.hp1 HG01516.hp1 HG01993.hp1 HG02132.hp1 HG02165.hp2 HG02809.hp2 HG04204.hp1 NA18953.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0013t0001	a0001c0001t0001g0044 a0001c0001t0001g0092 a0001c0001t0001g0132 others(6): Show a0001c0001t0001g0044 a0001c0001t0001g0092 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0004g0187 a0001c0001t0006g0134 a0001c0013t0001g0069	9	204	0.0441	100	c.193 others(119): Show c.1934-4084_1934-4083insATGTATTATATATATTTCATATATAT AATGTATTATATATATTTCATATATATAATGTATTATATATATTTCATAT ATATAATGTATTATATATATTTCA	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24			chr5	TogoVar
ADAP1_chr7_892900_959680	919785	T T	TGGGGGGG others(93): Show TGGGGGGGAAGGGGGGAGAGGGAGGGAGATGGGGGAGGGAGGGAGGGAGA TGGGGGAGGGAGGGAGGGAGATGGGGGAGGGAGGGAGGGAGATGGGAGAT G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03654.hp1 HG01993.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0005 a0001c0001t0001g0008	2	14	0.1429	100	c.388 others(115): Show c.388+182_388+183insCATCTCCCATCTCCCTCCCTCCCTCCCCCA TCTCCCTCCCTCCCTCCCCCATCTCCCTCCCTCCCTCCCCCATCTCCCTC CCTCTCCCCCCTTCCCCCCC	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
ADARB2_chr10_1172313_1742525	1238067	C C	CCCTCTCC others(93): Show CCCTCTCCCTCCCGGTGTTTACTCCCCTCTGTCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCC T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0052 a0001c0003t0001g0052	1	106	0.0094	100	c.136 others(119): Show c.1361+4063_1361+4064insAGGGGGAGTAAACACCGGGAGGCAGG GGGGAGTAAACACCGGGAGGCAGAGGGGAGTAAACACCGGGAGACAGAGG GGAGTAAACACCGGGAGGGAGAGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADGB_chr6_146593972_146820462	146691449	T T	TATAAATA others(93): Show TATAAATATATATATAAATATATATATAAATATATATATATATATAAATA TATATATAAATATATATATAAATATATATATATATATAAATATATATATA A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0012 a0012	a0012c0031 a0012c0031	a0012c0031t0003 a0012c0031t0003	a0012c0031t0003g0056 a0012c0031t0003g0056	1	276	0.0036	100	c.148 others(117): Show c.1486+162_1486+163insAATATATATATAAATATATATATAAATA TATATATATATATAAATATATATATAAATATATATATAAATATATATATA TATATAAATATATATATAAATA	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	11/35		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRA1_chr10_133082924_133136675	133129673	A A	ATCACACC others(93): Show ATCACACCCCTGCCCCTTCCTTGTGTTCACACCCCTGCCCCTTCCTTGTG ATCACACCCCTGCCCCTTCCTTGTGATCACACCCCTGCCCCTTCCTTGTG T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp2 HG02717.hp2 HG00735.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0079 a0001c0001t0055 a0001c0001t0079	a0001c0001t0055g0288 a0001c0001t0079g0117 a0001c0001t0055g0288 a0001c0001t0079g0117	2	368	0.0054	100	c.18 others(109): Show c.186_*187insTTCACACCCCTGCCCCTTCCTTGTGATCACACCCCT GCCCCTTCCTTGTGATCACACCCCTGCCCCTTCCTTGTGTTCACACCCCT GCCCCTTCCTTGTG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	187	INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA3_chr4_22382376_22521066	22457760	A A	AATCTAAA others(93): Show AATCTAAAACATACTGAAGAAACTGCTTTTTATTAACAATAGGTTTTCTT CAAACTATATCTCAGCATAGAGATAAAATCAGCATTAAGATAGTCTGCAG T	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18522.hp1 HG03540.hp1 NA18522.hp1	a0013 a0019 a0013 a0019	a0013c0032 a0019c0039 a0013c0032 a0019c0039	a0013c0032t0001 a0019c0039t0009 a0013c0032t0001 a0019c0039t0009	a0013c0032t0001g0116 a0019c0039t0009g0288 a0013c0032t0001g0116 a0019c0039t0009g0288	2	290	0.0069	100	c.402 others(117): Show c.402-2824_402-2823insACTGCAGACTATCTTAATGCTGATTTTA TCTCTATGCTGAGATATAGTTTGAAGAAAACCTATTGTTAATAAAAAGCA GTTTCTTCAGTATGTTTTAGAT	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	3/18			chr4	TogoVar
ADGRB3_chr6_68630282_69394506	69031550	T T	TTTCTTTC others(93): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTTCTTTCTTTCTTTCTTTCTTT C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	120	0.0083	100	c.210 others(121): Show c.2107+13053_2107+13054insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTTCTTTCTTTCTTTCTTTCTTTCTT	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	13/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(93): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0010 a0002c0005t0010	a0002c0005t0010g0094 a0002c0005t0010g0094	1	218	0.0046	100	c.32- others(113): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
ADGRF4_chr6_47693580_47727014	47709077	C C	CAAGGTTT others(93): Show CAAGGTTTGATGCCAATTTTGCAAACACTGTTTGATGCAAATTTTGCAAA CAAGGTTTGATGCCAATTTTGCAAACACTGTTTGATGCAAATTTTGCAAA G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03098.hp2 HG01255.hp2 HG03098.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0006 a0005c0008t0006	a0005c0008t0006g0026 a0005c0008t0006g0026	2	394	0.0051	100	c.148 others(115): Show c.148+807_148+808insATGCCAATTTTGCAAACACTGTTTGATGCA AATTTTGCAAACAAGGTTTGATGCCAATTTTGCAAACACTGTTTGATGCA AATTTTGCAAAGAAGGTTTG	ADGRF4	ENSG00000153294.12	transcript	ENST00000283303.3	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
AGMO_chr7_15195317_15567015	15530098	G G	GATATTCT others(93): Show GATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCA TATAGATATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCA T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	236	0.0042	100	c.409 others(119): Show c.409+14673_409+14674insATGGAAATACGTATATAGAATATATG GAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTA TATGGAAATACGTATATAGAATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AK3_chr9_4704556_4746202	4735254	T T	TATACATA others(93): Show TATACATATATAAATATATATACACATATATAAATATATATACATATATA AATATATATATACATATATAAATATATATACATATATAAATATATATATA C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0222	1	462	0.0022	100	c.151 others(117): Show c.151+5682_151+5683insGTATATATATATTTATATATGTATATAT ATTTATATATGTATATATATATTTATATATGTATATATATTTATATATGT GTATATATATTTATATATGTAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735254	T T	TATACATA others(93): Show TATACATATATAAATATATATATACATATATAAATATATATACATATATA AATATATATATACATATATAAATATATATACATATATAAATATATATATA C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03486.hp1 HG02922.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0028 a0001c0001t0004 a0001c0001t0028	a0001c0001t0004g0114 a0001c0001t0028g0108 a0001c0001t0004g0114 a0001c0001t0028g0108	2	462	0.0043	100	c.151 others(117): Show c.151+5682_151+5683insGTATATATATATTTATATATGTATATAT ATTTATATATGTATATATATATTTATATATGTATATATATTTATATATGT ATATATATATTTATATATGTAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
ALG6_chr1_63362627_63443553	63422238	T T	TATCTATA others(93): Show TATCTATATGAATATAAATATATATTTATATAGATATAAATATATATCTA TATGAATATAAATATATATTTATATAGATATAAATATATATATTTATATA G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02818.hp2 HG02109.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0067 a0001c0001t0002g0020 a0001c0001t0002g0067	2	388	0.0052	100	c.105 others(119): Show c.1058+2800_1058+2801insCTATATGAATATAAATATATATTTAT ATAGATATAAATATATATCTATATGAATATAAATATATATTTATATAGAT ATAAATATATATATTTATATAGAT	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALLC_chr2_3653200_3707671	3690353	T T	TCCCCCCT others(93): Show TCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC C	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0199 a0002c0002t0002g0199	1	274	0.0037	100	c.512 others(117): Show c.512-5360_512-5359insCCTCCCCTCCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764845	T T	TATATACA others(93): Show TATATACACATATATATATACACGTATATATATACGTATATATATATACG TGTATATATATGTGTATATATATATACGTATATATATACGTATATATATA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG02148.hp2 NA18964.hp1 others(1): Show HG00544.hp1 HG02148.hp2 NA18964.hp1 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0191 a0001c0002t0002g0194 a0001c0002t0002g0227 others(1): Show a0001c0002t0002g0191 a0001c0002t0002g0194 a0001c0002t0002g0227 a0001c0002t0002g0239	4	370	0.0108	100	c.44 others(111): Show c.4445_*4446insGTATATATATACGTATATATATACGTATATATAT ATACACATATATATACACGTATATATATATACGTATATATATACGTGTAT ATATATATGTGTATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2794		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764847	T T	TATACACA others(93): Show TATACACATATATATATACACGTATATATATACGTATATATATATACGTG TATATATATATGTGTATATATATATACGTATATATATACGTATATATATA C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0221 a0001c0002t0002g0221	1	370	0.0027	100	c.44 others(111): Show c.4443_*4444insGTATATATATACGTATATATATACGTATATATAT ATACACATATATATATACACGTATATATATATACGTATATATATACGTGT ATATATATATGTGTAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2792		chr2	TogoVar
ANGPT1_chr8_107244482_107502918	107368450	G G	GTATTCCT others(93): Show GTATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT ATATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03098.hp2 HG03486.hp2 others(1): Show HG00642.hp2 HG03098.hp2 HG03486.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0006g0071 others(1): Show a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0006g0071 a0001c0001t0006g0108	4	292	0.0137	100	c.298 others(119): Show c.298-21453_298-21354dupTACTTATAAATAAGTATAAGGAATAT ACTTATAAATAAGTATAAGGAATATACTTATAAATAAGTATAAGGAATAT ACTTATAAATAAGTATAAGGAATA	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANKFY1_chr17_4158821_4268979	4265413	G G	GTTTTTTT others(93): Show GTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTCGTTT T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0294	1	300	0.0033	100	c.-14 others(111): Show c.-1473_-1472insAAAACGAAAAAAAAAATAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA AAAAAAAAAAAAAAAA	ANKFY1	ENSG00000185722.18	transcript	ENST00000341657.9	protein_coding		1435		chr17	TogoVar

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