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
ADARB2_chr10_1172313_1742525	1265694	T T	TCCCGGAA others(197): Show TCCCGGAAGACGGCCTGAGCCAGGTCCACGCTCCCCCGGAAGACGGCCTG AGAGGGGGGCCCAGGGTCCCCCGGAAGACGGCCTGAGCCAGGTCCACGCT CCCCCGGAAGACGGCCTGAGAGGGGGGCCCAGGCTCTCCCGGAAGACGGC CTGAGCCAGGTCCACGCTCCCCCGGAAGACGGCCTGAGAGGGGGGCCCAG GGTCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG02615.hp1 others(2): Show HG01884.hp2 HG02257.hp1 HG02615.hp1 HG02970.hp1 HG03041.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0010c0009	a0001c0001t0001 a0001c0001t0012 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0003t0001 a0002c0002t0046 a0010c0009t0024	a0001c0001t0001g0078 a0001c0001t0012g0009 a0001c0003t0001g0052 others(2): Show a0001c0001t0001g0078 a0001c0001t0012g0009 a0001c0003t0001g0052 a0002c0002t0046g0056 a0010c0009t0024g0016	5	106	0.0472	204	c.119 others(223): Show c.1192+5260_1192+5261insGGACCCTGGGCCCCCCTCTCAGGCCG TCTTCCGGGGGAGCGTGGACCTGGCTCAGGCCGTCTTCCGGGAGAGCCTG GGCCCCCCTCTCAGGCCGTCTTCCGGGGGAGCGTGGACCTGGCTCAGGCC GTCTTCCGGGGGACCCTGGGCCCCCCTCTCAGGCCGTCTTCCGGGGGAGC GTGGACCTGGCTCAGGCCGTCTTCCGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	4/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1265762	T T	TCCCGGAA others(197): Show TCCCGGAAGACGGCCTGAGCCAGGTCCACGCTCCCCCGGAAGACGGCCTG AGAGGGGGGCCCAGGGTCCCCCGGAAGACGGCCTGAGCCAGGTCCACGCT CCCCCGGAAGACGGCCTGAGAGGGGGGCCCAGGCTCTCCCGGAAGACGGC CTGAGCCAGGTCCACGCTCCCCCGGAAGACGGCCTGAGAGGGGGGCCCAG GGTCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp2 HG02622.hp2 others(3): Show HG02109.hp1 HG02615.hp2 HG02622.hp2 HG02886.hp1 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0022 a0001c0001t0029 others(3): Show a0001c0001t0001 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0049 a0001c0007t0066	a0001c0001t0001g0045 a0001c0001t0022g0015 a0001c0001t0029g0031 others(3): Show a0001c0001t0001g0045 a0001c0001t0022g0015 a0001c0001t0029g0031 a0001c0001t0030g0034 a0001c0001t0049g0040 a0001c0007t0066g0105	6	106	0.0566	204	c.119 others(223): Show c.1192+5192_1192+5193insGGACCCTGGGCCCCCCTCTCAGGCCG TCTTCCGGGGGAGCGTGGACCTGGCTCAGGCCGTCTTCCGGGAGAGCCTG GGCCCCCCTCTCAGGCCGTCTTCCGGGGGAGCGTGGACCTGGCTCAGGCC GTCTTCCGGGGGACCCTGGGCCCCCCTCTCAGGCCGTCTTCCGGGGGAGC GTGGACCTGGCTCAGGCCGTCTTCCGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	4/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1265830	C C	CCCCGGAA others(197): Show CCCCGGAAGACGGCCTGAGCCAGGTCCACGCTCCCCCGGAAGACGGCCTG AGAGGGGGGCCCAGGCTCTCCCGGAAGACGGCCTGAGCCAGGTCCACGCT CCCCCGGAAGACGGCCTGAGAGGGGGGCCCAGGGTCCCCCGGAAGACGGC CTGAGCCAGGTCCACGCTCCCCCGGAAGACGGCCTGAGAGGGGGGCCCAG GCTCT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0034 a0007c0011t0034	a0007c0011t0034g0076 a0007c0011t0034g0076	1	106	0.0094	204	c.119 others(223): Show c.1192+5124_1192+5125insAGAGCCTGGGCCCCCCTCTCAGGCCG TCTTCCGGGGGAGCGTGGACCTGGCTCAGGCCGTCTTCCGGGGGACCCTG GGCCCCCCTCTCAGGCCGTCTTCCGGGGGAGCGTGGACCTGGCTCAGGCC GTCTTCCGGGAGAGCCTGGGCCCCCCTCTCAGGCCGTCTTCCGGGGGAGC GTGGACCTGGCTCAGGCCGTCTTCCGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	4/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1460049	A A	AAACCTGC others(197): Show AAACCTGCCTGTGACCTGAGTTTACCTGTGTAACAAACCTGCCTGTGACC TGAGTTTACCTGTGTAACAAACCTGCCTGTGACCTCAGTTTACCTGTGTA ACAAACCTGCCTGTGACCTGAATTTACCTGCGTAACGAACCTGCCTGTGA CCTGAGTTTACCTGTGTAACAAACCTGCCTGTGACCTGAATTTACCTGCG TAACG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0060 a0001c0003t0060	a0001c0003t0060g0104 a0001c0003t0060g0104	1	106	0.0094	204	c.101 others(223): Show c.101-80890_101-80889insCGTTACGCAGGTAAATTCAGGTCACA GGCAGGTTTGTTACACAGGTAAACTCAGGTCACAGGCAGGTTCGTTACGC AGGTAAATTCAGGTCACAGGCAGGTTTGTTACACAGGTAAACTGAGGTCA CAGGCAGGTTTGTTACACAGGTAAACTCAGGTCACAGGCAGGTTTGTTAC ACAGGTAAACTCAGGTCACAGGCAGGTT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1460049	A A	AAACCTGC others(197): Show AAACCTGCCTGTGACCTGAGTTTACCTGTGTAACAAACCTGCCTGTGACC TGAGTTTACCTGTGTAACAAACCTGCCTGTGACCTCAGTTTACCTGTGTA ACAAACCTGCCTGTGACCTGAGTTTACCTGTGTAACAAACCTGCCTGTGA CCTGAGTTTACCTGTGTAGCAAACCTGCCTGTGACCTGAGTTTACCTGCG TAACG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03139.hp1 HG02258.hp2 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0061 a0002c0002t0005 a0001c0001t0061 a0002c0002t0005	a0001c0001t0061g0087 a0002c0002t0005g0028 a0001c0001t0061g0087 a0002c0002t0005g0028	2	106	0.0189	204	c.101 others(223): Show c.101-80890_101-80889insCGTTACGCAGGTAAACTCAGGTCACA GGCAGGTTTGCTACACAGGTAAACTCAGGTCACAGGCAGGTTTGTTACAC AGGTAAACTCAGGTCACAGGCAGGTTTGTTACACAGGTAAACTGAGGTCA CAGGCAGGTTTGTTACACAGGTAAACTCAGGTCACAGGCAGGTTTGTTAC ACAGGTAAACTCAGGTCACAGGCAGGTT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1460281	T T	TGTAGCAA others(197): Show TGTAGCAAACCTGCCTGTGACCTGAGTTTACCTGCGTTACGAACCTGCCT GTGACCTGAGTTTACCTGTGTAACGAACCTGCCTGTGACCTGAGTTTACC TGCGTAACAAACCTGCCTGTGACCTGAGTTTACCTGTGTAACGAACCTGC CTGTGACCTGAGTTTACCTGCGTAACAAACCTGCCTGTGACCTGAATTTA CCTGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG03139.hp1 HG01243.hp2 HG02258.hp2 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0061 a0001c0003t0060 a0002c0002t0005 a0001c0001t0061 a0001c0003t0060 a0002c0002t0005	a0001c0001t0061g0087 a0001c0003t0060g0104 a0002c0002t0005g0028 a0001c0001t0061g0087 a0001c0003t0060g0104 a0002c0002t0005g0028	3	106	0.0283	204	c.101 others(223): Show c.101-81122_101-81121insGCAGGTAAATTCAGGTCACAGGCAGG TTTGTTACGCAGGTAAACTCAGGTCACAGGCAGGTTCGTTACACAGGTAA ACTCAGGTCACAGGCAGGTTTGTTACGCAGGTAAACTCAGGTCACAGGCA GGTTCGTTACACAGGTAAACTCAGGTCACAGGCAGGTTCGTAACGCAGGT AAACTCAGGTCACAGGCAGGTTTGCTAC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
AGAP1_chr2_235489043_236136793	235597725	G G	GTGTGTGG others(197): Show GTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTGTGTGTGGAGCGTGCA CGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTC CTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTG CACGCGTTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTT TCCTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA21309.hp1 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0026 a0001c0001t0024 a0001c0001t0026	a0001c0001t0024g0077 a0001c0001t0026g0095 a0001c0001t0024g0077 a0001c0001t0026g0095	2	98	0.0204	204	c.163 others(225): Show c.163+102909_163+102910insGTGTGTGGAGCGTGCACGCGCTCC CGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGT GGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGTT CCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGT GTGGAGCGTGCACGCGCTCCCGTGTTTCCT	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235597725	G G	GTGTGTGG others(197): Show GTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCA CGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTC CTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTG CACGCGTTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTT TCCTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0055 a0001c0003t0022g0055	1	98	0.0102	204	c.163 others(225): Show c.163+103031_163+103032insTTCCCGTGTTTCCTTTGTGTGGAG CGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCG TGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGG AGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCC CGTGTTTCCTTTGTGTGGAGCGTGCACGCG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235597784	G G	GTGTTTCC others(197): Show GTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTG GAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTC CCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTG TGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGC TCCCT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0050 a0001c0005t0013g0050	1	98	0.0102	204	c.163 others(225): Show c.163+103079_163+103080insTTGTGTGGAGCGTGCACGCGCTCC CGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCTTGTTTCCTTTGTGT GGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCT CCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGT GTGGAGCGTGCACGCGCTCCCGTGTTTCCT	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235597784	G G	GTGTTTCC others(197): Show GTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTG GAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGTTC CCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTG TGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGC TCCCT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0018	1	98	0.0102	204	c.163 others(225): Show c.163+103031_163+103032insTTCCCGTGTTTCCTTTGTGTGGAG CGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCG TGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCTTGTTTCCTTTGTGTGG AGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCC CGTGTTTCCTTTGTGTGGAGCGTGCACGCG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGMO_chr7_15195317_15567015	15530098	G G	GATATTCT others(197): Show GATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCA TATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATT TCCATATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACG TATTTCCATATATTCTATATACGTATTTCCATATATTCTATATACGTATT TCCAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01106.hp1 HG01109.hp2 others(13): Show HG00558.hp1 HG01106.hp1 HG01109.hp2 HG02155.hp1 HG02165.hp1 HG02300.hp2 HG02717.hp2 HG02735.hp1 HG03471.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA19084.hp1 NA19088.hp1 NA20300.hp1 NA20300.hp2	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0012	a0001c0001 a0001c0003 a0003c0006 others(2): Show a0001c0001 a0001c0003 a0003c0006 a0009c0013 a0012c0015	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0003c0006t0004 a0009c0013t0006 a0012c0015t0006	a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0057 others(13): Show a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0156 a0001c0001t0001g0168 a0001c0001t0002g0079 a0001c0003t0001g0068 a0003c0006t0004g0076 a0009c0013t0006g0229 a0012c0015t0006g0230	16	236	0.0678	204	c.409 others(223): Show c.409+14673_409+14674insATGGAAATACGTATATAGAATATATG GAAATACGTATATAGAATATATGGAAATACGTATATAGAATATCTATATG GAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTA TATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATA TCTATATGGAAATACGTATATAGAATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15530136	T T	TACGTATT others(197): Show TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTC TATATACGTATTTCCATATATTCTATATACGTATTTCCATATATTCTATA TACGTATTTCCATATATTCTATATACGTATTTCCATATAGATATTCTATA TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTC TATAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	236	0.0042	204	c.409 others(223): Show c.409+14635_409+14636insGTATAGAATATCTATATGGAAATACG TATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAA TACGTATATAGAATATATGGAAATACGTATATAGAATATATGGAAATACG TATATAGAATATATGGAAATACGTATATAGAATATCTATATGGAAATACG TATATAGAATATCTATATGGAAATACGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15530136	T T	TACGTATT others(197): Show TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATATTCTATA TACGTATTTCCATATATTCTATATACGTATTTCCATATATTCTATATACG TATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTCTATA TACGTATTTCCATATAGATATTCTATACACGTATTTCCATATAGATATTC TATAC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	236	0.0042	204	c.409 others(223): Show c.409+14635_409+14636insGTATAGAATATCTATATGGAAATACG TGTATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAA TACGTATATAGAATATCTATATGGAAATACGTATATAGAATATATGGAAA TACGTATATAGAATATATGGAAATACGTATATAGAATATATGGAAATACG TATATAGAATATCTATATGGAAATACGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15530163	T T	TACGTATT others(197): Show TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATATTCTATA TACGTATTTCCATATATTCTATATACGTATTTCCATATATTCTATATACG TATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTCTATA TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTC TATAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	236	0.0042	204	c.409 others(223): Show c.409+14608_409+14609insGTATAGAATATCTATATGGAAATACG TATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAA TACGTATATAGAATATCTATATGGAAATACGTATATAGAATATATGGAAA TACGTATATAGAATATATGGAAATACGTATATAGAATATATGGAAATACG TATATAGAATATCTATATGGAAATACGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGO4_chr1_35803016_35862890	35818658	A A	AAAGAAAG others(197): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGGAAG AAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAGAA AGGAAGAAAGGAAGAAAGGAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	270	0.0037	204	c.185 others(221): Show c.185+1614_185+1615insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAG AAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAG	AGO4	ENSG00000134698.11	transcript	ENST00000373210.4	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGRN_chr1_1015120_1061116	1049050	T T	TGCAGCTC others(197): Show TGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGG CGGGGAGGGGACGGGGGGGGGAGGGGGGGGCCGGGGCAGCTCAGGTGGGT GGGGTGGGGACGGGGGCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGG CCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGGGGGGGGAGGGGGGGG CCGGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0029 a0029	a0029c0061 a0029c0061	a0029c0061t0004 a0029c0061t0004	a0029c0061t0004g0175 a0029c0061t0004g0175	1	210	0.0048	204	c.429 others(219): Show c.4298+55_4298+56insGGGGGGAGGGGGGGGCCGGGGCAGCTCAGG TGGGTGGGGTGGGGACGGGGGCGGGGCAGCTCAGGTGGGCGGGGAGGGGA CGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGGGGGGGGAGGG GGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGC TCAGGTGGGCGGGGAGGGGACGGG	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	24/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AHRR_chr5_316714_443285	415395	G G	GTCTCCCT others(197): Show GTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGT GGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCC GAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGG GTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGG CCGAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	268	0.0037	204	c.441 others(221): Show c.441+1965_441+1966insCCCTGGTCGGGCGGGAGGCCTAGGGGCC GAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTG CTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGG CCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTC TGCTGGGAGGCCTAGGGGCCGAATCT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415410	T T	TGGGAGGC others(197): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGC CGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCG GGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGG GCCGAGTCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGT GGGGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0020 a0002c0002t0006g0020	1	268	0.0037	204	c.441 others(221): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGA GGCCTAGGGGCCGAATCTGCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415410	T T	TGGGAGGC others(197): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGC CGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGG GGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGG GCCGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGT GGGGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0007 a0004c0003t0007	a0004c0003t0007g0221 a0004c0003t0007g0221	1	268	0.0037	204	c.441 others(221): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGG CCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCT CCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGA GGCCTAGGGGCCGAATCTGCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415429	A A	ATCTGCCT others(197): Show ATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGC GGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCG GAGTCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTG CTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGG CGGAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01169.hp1 HG01081.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0258 a0001c0001t0003g0260 a0001c0001t0003g0258 a0001c0001t0003g0260	2	268	0.0075	204	c.441 others(221): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTGC CTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGG CCTAGGGGCGGAGTCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCT GCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGA GGCCTAGGGGCGGAGTCTGCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415433	G G	GCCTGGTC others(197): Show GCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGA GGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAAT CTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGG GAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGA GTCTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0012 a0003c0004t0012	a0003c0004t0012g0195 a0003c0004t0012g0195	1	268	0.0037	204	c.441 others(221): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGG CCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGA GGCCTAGGGGCCGAGTCTCCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415440	C C	CTGCTGGG others(197): Show CTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAG GGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTG GTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCT AGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCC TGGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(10): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG01070.hp1 HG01106.hp2 HG01123.hp1 HG01261.hp2 HG01928.hp2 HG02004.hp1 HG02004.hp2 HG04204.hp2 NA18970.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0004 a0001c0001 a0001c0008 a0003c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0029 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0029 a0001c0001t0042 a0001c0008t0025 a0003c0004t0004	a0001c0001t0002g0137 a0001c0001t0005g0068 a0001c0001t0005g0069 others(10): Show a0001c0001t0002g0137 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0112 a0001c0001t0005g0181 a0001c0001t0029g0012 a0001c0001t0029g0013 a0001c0001t0042g0203 a0001c0008t0025g0158 a0001c0008t0025g0159 a0003c0004t0004g0185	13	268	0.0485	204	c.441 others(221): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGA GGCCTAGGGGCCGAATCTGCCTGGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10			chr5	TogoVar
AHRR_chr5_316714_443285	415440	C C	CTGCTGGG others(197): Show CTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAG GGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTG GTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCT AGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCGGAGTCTGCC TGGTG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0186 a0001c0001t0061g0186	1	268	0.0037	204	c.441 others(221): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGG CCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCT GCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGA GGCCTAGGGGCGGAGTCTGCCTGGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10			chr5	TogoVar
AHRR_chr5_316714_443285	415478	T T	TGGGAGGC others(197): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGC GGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCG GGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGG GCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGT CGGGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02293.hp2 HG03710.hp2 others(1): Show HG01109.hp2 HG02293.hp2 HG03710.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0070 a0001c0001t0003g0072 others(1): Show a0001c0001t0003g0053 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0073	4	268	0.0149	204	c.441 others(221): Show c.441+2063_441+2064insATCTGCCTGGTCGGGCGGGAGGCCTAGG GGCGGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGG TCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTA GGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCT GGTCGGGCGGGAGGCCTAGGGGCCGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AK8_chr9_132720578_132883284	132813070	G G	GCTCACTG others(197): Show GCTCACTGCCCTGAGCCTACACAGATCACCTCATTCTGTGGCCACCGCAG ACACCCAGGACCAGACCCGCTCACTGCCCTGCACCTACACAGATCACCTC ATTCTGTGGCCACCGCAGACACCCAGGACCAGACCCTCTCACTGCCCTGC ACCTACAGAGATCACCTCATTCTGTGGCCACCGCAGACACCCAGGACCAG ACCTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00558.hp2 others(39): Show HG00323.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02257.hp2 HG02486.hp1 HG02523.hp2 HG02630.hp2 HG02735.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03654.hp2 HG04184.hp2 NA18522.hp2 NA18941.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18952.hp2 NA18964.hp2 NA18965.hp1 NA18971.hp2 NA18979.hp2 NA18983.hp1 NA18988.hp1 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA19005.hp2 NA19068.hp1 NA19079.hp1 NA19088.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(39): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096	42	266	0.1579	204	c.979 others(221): Show c.979+1567_979+1568insGAGGTCTGGTCCTGGGTGTCTGCGGTGG CCACAGAATGAGGTGATCTCTGTAGGTGCAGGGCAGTGAGAGGGTCTGGT CCTGGGTGTCTGCGGTGGCCACAGAATGAGGTGATCTGTGTAGGTGCAGG GCAGTGAGCGGGTCTGGTCCTGGGTGTCTGCGGTGGCCACAGAATGAGGT GATCTGTGTAGGCTCAGGGCAGTGAG	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	10/12			chr9	TogoVar
AKAP6_chr14_32324298_32842684	32629800	C C	CTGTTATT others(197): Show CTGTTATTAGACACAAACTGCTCTGAAGTCTTCTATTAGAATTAGGGCTG GGTGAAAGATTTCTAGGAAATAATTTTAACCTGGACCACTGAAAGGTTTA GGGAAAAAAAGAAAGGAAGGAAGTTCTGTCTTTTGTTTTTGCCTTTATTT TTATTTTTTTTAAGGTGAAAAGGCCTGTTTATATGGCTAGATTTGCATGC ATTTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0031 a0004c0024t0031	a0004c0024t0031g0113 a0004c0024t0031g0113	1	154	0.0065	204	c.273 others(225): Show c.2730+29008_2730+29009insTGTTATTAGACACAAACTGCTCTG AAGTCTTCTATTAGAATTAGGGCTGGGTGAAAGATTTCTAGGAAATAATT TTAACCTGGACCACTGAAAGGTTTAGGGAAAAAAAGAAAGGAAGGAAGTT CTGTCTTTTGTTTTTGCCTTTATTTTTATTTTTTTTAAGGTGAAAAGGCC TGTTTATATGGCTAGATTTGCATGCATTTG	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	7/13			chr14	TogoVar
ANKLE2_chr12_132720503_132766832	132727539	C C	CGCTCCGG others(197): Show CGCTCCGGGCGGAGGAGAGGGCATTGCTGAACCCTGGCACCTGCGGGCAC ATGCGCCCGGACGGAGGAGACGCACTGCTGAACCCTGGCACCGTGGGGCA CACGCGCCCGGGTGGAGGAGAGGCACTGCTGAACCCTGGCACCGCGGGCA CACGCGCCCGGATGGAGGAGATGCACTGCTGAACCCTGGCACCGTGGGCA CACGT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0184 a0008c0015t0001g0184	1	350	0.0029	204	c.261 others(219): Show c.2616-97_2616-96insACGTGTGCCCACGGTGCCAGGGTTCAGCAG TGCATCTCCTCCATCCGGGCGCGTGTGCCCGCGGTGCCAGGGTTCAGCAG TGCCTCTCCTCCACCCGGGCGCGTGTGCCCCACGGTGCCAGGGTTCAGCA GTGCGTCTCCTCCGTCCGGGCGCATGTGCCCGCAGGTGCCAGGGTTCAGC AATGCCCTCTCCTCCGCCCGGAGC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	12/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132727543	C C	CGGGCGGG others(197): Show CGGGCGGGGAGAGAGGCATTGCTGAACCCTGGCACCGCGGGCACATGCGC CCGGACGGAGGAGACGCACTGCTGAACCCTGGCACCGTGGGCACACGCGC CCGGGGCGGAGGAGAGGCACTGCTGAACCCTGGCACCGTGGGCACACGCG CCCGGATGGAGGAGATGCACTGCTGAACCCTGGCAACCGTGGGCACACGT GCCCG	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	350	0.0029	204	c.261 others(221): Show c.2616-101_2616-100insCGGGCACGTGTGCCCACGGTTGCCAGGG TTCAGCAGTGCATCTCCTCCATCCGGGCGCGTGTGCCCACGGTGCCAGGG TTCAGCAGTGCCTCTCCTCCGCCCCGGGCGCGTGTGCCCACGGTGCCAGG GTTCAGCAGTGCGTCTCCTCCGTCCGGGCGCATGTGCCCGCGGTGCCAGG GTTCAGCAATGCCTCTCTCCCCGCCC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	12/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759517	A A	ATATGATA others(197): Show ATATGATATGTGCTATATGATATACACGTATCATATGCCATGATATACGT ATATTATACATCATATATAAAAACATATTTTTATATAAAATATCAGTATT TTATGTATACTATATGTGCTATATGATATACACGTATCATATGCCATGAT ATACGTATATTATACATCATATATAAAAACATTTTTATATAAAATATCAG TATTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0327 a0003c0003t0001g0327	1	350	0.0029	204	c.181 others(221): Show c.181+2100_181+2101insAAATACTGATATTTTATATAAAAATGTT TTTATATATGATGTATAATATACGTATATCATGGCATATGATACGTGTAT ATCATATAGCACATATAGTATACATAAAATACTGATATTTTATATAAAAA TATGTTTTTATATATGATGTATAATATACGTATATCATGGCATATGATAC GTGTATATCATATAGCACATATCATA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759517	A A	ATATGATA others(197): Show ATATGATATGTGCTATATGATATACACGTATCATATGCCATGATATACGT ATATTATACATCATATATAAAAACATATTTTTATATAAAATATCAGTATT TTATGTATATTATATGTGCTATATGATATACACGTATCATATGCCATGAT ATACGTATATTATACATCATATATAAAAACATTTTTATATAAAATATCAG TATTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	350	0.0029	204	c.181 others(221): Show c.181+2100_181+2101insAAATACTGATATTTTATATAAAAATGTT TTTATATATGATGTATAATATACGTATATCATGGCATATGATACGTGTAT ATCATATAGCACATATAATATACATAAAATACTGATATTTTATATAAAAA TATGTTTTTATATATGATGTATAATATACGTATATCATGGCATATGATAC GTGTATATCATATAGCACATATCATA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKRD62_chr18_12088843_12134764	12094523	C C	CTGTGGTG others(197): Show CTGTGGTGGGGGTAGAGTTGGGTGAGGGACTGTGGTGGGGAGTGGAGTGA GGGTGGGTTGGGGGTGGAGGACTGGTGGGGGGGTGGGATGGGGTGGGGGA CTGTGGTGGGGGTAGAGTTGGGTGGGGGACTGTATTAGGAGGTGGAGTTG GGTGGGGTTGGATGGGGTGGAGGACTGGTGGGGGGTGGGATGGGGTGGGG GACTG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0066 a0004c0005t0003g0066	1	392	0.0026	204	c.218 others(219): Show c.218+290_218+291insTGGTGGGGGTAGAGTTGGGTGAGGGACTGT GGTGGGGAGTGGAGTGAGGGTGGGTTGGGGGTGGAGGACTGGTGGGGGGG TGGGATGGGGTGGGGGACTGTGGTGGGGGTAGAGTTGGGTGGGGGACTGT ATTAGGAGGTGGAGTTGGGTGGGGTTGGATGGGGTGGAGGACTGGTGGGG GGTGGGATGGGGTGGGGGACTGTG	ANKRD62	ENSG00000181626.12	transcript	ENST00000587848.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr18	TogoVar
AOC2_chr17_42839580_42855707	42848524	A A	AATATATA others(197): Show AATATATATATACATATATATATATATATGTATATATATATATATACATG TATATATATATATGTATATATATATATATACATGTATATATATATATGTA TATATATATATATACATGTATATATATATATACGTATATATATATATACA TGTATATATATATATATGTATATATATATATATACATGTATATATATATA TACGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	290	0.0035	204	c.158 others(221): Show c.1589-551_1589-550insCATATATATATATATATGTATATATATA TATATACATGTATATATATATATGTATATATATATATATACATGTATATA TATATATGTATATATATATATATACATGTATATATATATATACGTATATA TATATATACATGTATATATATATATATGTATATATATATATATACATGTA TATATATATATACGTATATATATATA	AOC2	ENSG00000131480.9	transcript	ENST00000253799.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
AOC3_chr17_42846199_42863124	42848524	A A	AATATATA others(197): Show AATATATATATACATATATATATATATATGTATATATATATATATACATG TATATATATATATGTATATATATATATATACATGTATATATATATATGTA TATATATATATATACATGTATATATATATATACGTATATATATATATACA TGTATATATATATATATGTATATATATATATATACATGTATATATATATA TACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0008 a0002c0007t0002g0008	1	284	0.0035	204	c.-28 others(215): Show c.-2820_-2819insATATATATATACATATATATATATATATGTATAT ATATATATATACATGTATATATATATATGTATATATATATATATACATGT ATATATATATATGTATATATATATATATACATGTATATATATATATACGT ATATATATATATACATGTATATATATATATATGTATATATATATATATAC ATGTATATATATATATACGT	AOC3	ENSG00000131471.7	transcript	ENST00000308423.7	protein_coding		2674		chr17	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(197): Show AATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATAATTGTATATAATATATAT TATATATAATTGTATATATAATATATATTATATATATAATTGTATATATA ATATATATTATATATATAATTGTATATATAATATATATTATATATATAAT TGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	384	0.0026	204	c.-12 others(215): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATAATT GTATATAATATATATTATATATAATTGTATATATAATATATATTATATAT ATAATTGTATATATAATATATATTATATATATAATTGTATATATAATATA TATTATATATATAATTGTAT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
API5_chr11_43306996_43349529	43310905	T T	TATATAAT others(197): Show TATATAATATATATTATATATAATTGTATATATAATATATATTATATATA ATTGTATATATAATATATATTATATATAATTGTATATATAATATATATTA TATATATAATTGTATATATAATATATATTATATATATAATTGTATATATA ATATATATTATATATATAATTGTATATATAATATATATTATATATATAAT TGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0246 a0001c0001t0007g0246	1	384	0.0026	204	c.-12 others(215): Show c.-1223_-1222insATATAATATATATTATATATAATTGTATATATAA TATATATTATATATAATTGTATATATAATATATATTATATATAATTGTAT ATATAATATATATTATATATATAATTGTATATATAATATATATTATATAT ATAATTGTATATATAATATATATTATATATATAATTGTATATATAATATA TATTATATATATAATTGTAC	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1090		chr11	TogoVar
API5_chr11_43306996_43349529	43310907	T T	TATAATAT others(197): Show TATAATATATATTATATATAATTGTATATATAATATATATTATATATAAT TGTATATATAATATATATTATATATAATTGTATATATAATATATATTATA TATACAATTGTATATATAATATATATTATATATATAATTGTATATATAAT ATATATTATATATATAATTGTATATATAATATATATTATATATATAATTG TATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	384	0.0026	204	c.-12 others(215): Show c.-1221_-1220insATAATATATATTATATATAATTGTATATATAATA TATATTATATATAATTGTATATATAATATATATTATATATAATTGTATAT ATAATATATATTATATATACAATTGTATATATAATATATATTATATATAT AATTGTATATATAATATATATTATATATATAATTGTATATATAATATATA TTATATATATAATTGTATAC	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1088		chr11	TogoVar
APOH_chr17_66207033_66234415	66221417	A A	AAGGAAGG others(197): Show AAGGAAGGGAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGGAGGAAGGA AGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAAGGA AGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAAGGAAGGAA GGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG GAGGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 NA18612.hp1 others(7): Show HG00438.hp2 HG00621.hp2 NA18612.hp1 NA18950.hp1 NA18980.hp1 NA18986.hp1 NA18987.hp1 NA19056.hp1 NA19063.hp2 NA19090.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 others(7): Show a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0039 a0003c0003t0003g0042 a0003c0003t0003g0045 a0003c0003t0003g0046 a0003c0003t0003g0047 a0003c0003t0003g0048	10	386	0.0259	204	c.416 others(219): Show c.416-676_416-675insCCCTCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCC TTCCTCCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTCCCTTCCT TCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTT CCTTTCCTTCCTTCCTCCCTTCCT	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	4/7			chr17	TogoVar
APOH_chr17_66207033_66234415	66221417	A A	AAGGGAGG others(197): Show AAGGGAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGA AGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAAGGA AGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAAGGAAGGAA GGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG GAGGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0032 a0004c0004t0003g0032	1	386	0.0026	204	c.416 others(219): Show c.416-676_416-675insCCCTCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCC TTCCTCCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTCCCTTCCT TCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTT CCTTCCTTTCCTTCCTTCCTCCCT	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	4/7			chr17	TogoVar
ARHGAP39_chr8_144524179_144690846	144625141	C C	CCACTGCA others(197): Show CCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCA CCCACTGCACACTGCGGCAGCCCCTGTCCCCGCGGCCCCGTTCACGGAGC ACTCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAG CACTCACTGCACACTGCGGCAGCCCCTGTCCCCGCGGCCCCGTTCACGGA GCACT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19012.hp2 NA18945.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0032 a0001c0001t0001g0033	2	246	0.0081	204	c.-81 others(223): Show c.-81-19447_-81-19446insAGTGCTCCGTGAACGGGGCCGCGGGG ACAGGGGCTGCCGCAGTGTGCAGTGAGTGCTCCGTGAACCGGGCCGCCGG GACAGGGGCTGCCGCAGTGTGCAGTGAGTGCTCCGTGAACGGGGCCGCGG GGACAGGGGCTGCCGCAGTGTGCAGTGGGTGCTCCGTGAACGGGGCCGCC GGGACAGGGGCTGCCGCAGTGTGCAGTG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144626448	G G	GGCCCGGT others(197): Show GGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGG CGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCG GCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCATCCCCTGTCCC GGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCC CCGCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0018 a0001c0001t0007g0018	1	246	0.0041	204	c.-81 others(223): Show c.-81-20754_-81-20753insTGCGGGGACAGGGGCTGCCGCAGTGT GCAGTGGGTGCTCCGTGAACCGGGCCGCCGGGACAGGGGATGCCGCAGTG TGCAGTGGGTGCTCCGTGAACCGGGCCGCCGGGACAGGGGCTGCCGCAGT GTGCAGTGGGTGCTCCGTGAACGGGGCCGCCGGGACAGGGGCTGCCGCAG TGTGCAGTGGGTGCTCCGTGAACCGGGC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(197): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTC CCCCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	264	0.0038	204	c.102 others(221): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCC TCCCCCTCCCCCTCTCCCCCTCCCCC	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(197): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCCTC CCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTC CCCCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	264	0.0038	204	c.102 others(221): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCT CCCCCTCCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCT CCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASAP1_chr8_130047104_130448674	130050241	G G	GGGGGCAG others(197): Show GGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGA GGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACAC ATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGAGGGC AGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGCAGAGGGGAA CACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	308	0.0033	204	c.44 others(215): Show c.4489_*4490insATGTGTTCCCCTCTGCCCCCATGTGTTCCCCTCT GCCCTCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCTCCA TGTGTTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCTCC TCTGCCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCC CATGTGTTCTCCTCTGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1862		chr8	TogoVar
ASB5_chr4_176208673_176274222	176218715	G G	GATATATA others(197): Show GATATATAAATATATATATTTGTATGATATATAAATATATATGTATGATA TATAAATATATATTTGTATGATATATAAATATATATATTTGTATGATATA TAAATATATATATTTGTATGATATATAAATATATATATTTGTATGATATA TAAATATATATATTTGTATGATATATAAATATATATATTTGTATGATATA TAAAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0254 a0001c0002t0001g0254	1	410	0.0024	204	c.671 others(221): Show c.671-1707_671-1706insATTTATATATCATACAAATATATATATT TATATATCATACAAATATATATATTTATATATCATACAAATATATATATT TATATATCATACAAATATATATATTTATATATCATACAAATATATATATT TATATATCATACAAATATATATTTATATATCATACATATATATTTATATA TCATACAAATATATATATTTATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ATAD3B_chr1_1466765_1502848	1489582	T T	TCGTGTGA others(197): Show TCGTGTGAGGCTCTGCTGGGTCTCCCTTGGAGGGTGTGTGTGCCCTGGGG TGGGAGATGGAGACAAGTTTGCTCCCACGGGAAGTTGGACACCAGCAGGT CCTGTGTGTCGGGGCGGAACCTGGGACCTTGGTCCCCCGCCCGGATGCTG GCCAAGGGTGCACCCTCCAGGCTTGGGGCCCACCCGACTTTGTGTGGCCT CTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02922.hp2 HG03540.hp2 others(1): Show HG02615.hp2 HG02922.hp2 HG03540.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0002 a0001c0008 a0002c0002	a0001c0008t0002 a0002c0002t0002 a0001c0008t0002 a0002c0002t0002	a0001c0008t0002g0086 a0002c0002t0002g0061 a0002c0002t0002g0062 others(1): Show a0001c0008t0002g0086 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0083	4	276	0.0145	204	c.133 others(221): Show c.1337+308_1337+309insCGTGTGAGGCTCTGCTGGGTCTCCCTTG GAGGGTGTGTGTGCCCTGGGGTGGGAGATGGAGACAAGTTTGCTCCCACG GGAAGTTGGACACCAGCAGGTCCTGTGTGTCGGGGCGGAACCTGGGACCT TGGTCCCCCGCCCGGATGCTGGCCAAGGGTGCACCCTCCAGGCTTGGGGC CCACCCGACTTTGTGTGGCCTCTGTG	ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding	13/15			chr1	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCCTT others(197): Show CTTTCCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0202 a0003c0003t0001g0202	1	226	0.0044	204	c.108 others(221): Show c.108+5681_108+5682insTTTCCTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
ATP10A_chr15_25673712_25868327	25758477	A A	ATTCCGAC others(197): Show ATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCAC CCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0006 a0006	a0006c0053 a0006c0053	a0006c0053t0001 a0006c0053t0001	a0006c0053t0001g0021 a0006c0053t0001g0021	1	300	0.0033	204	c.655 others(223): Show c.655-22337_655-22336insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAA	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP8B1_chr18_57641426_57808315	57642305	T T	TAAGGTGG others(197): Show TAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCC GTTAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGT CTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAG CCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG02572.hp1 HG02818.hp2 others(2): Show HG00642.hp1 HG02572.hp1 HG02818.hp2 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0004g0019 others(2): Show a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0004g0019 a0001c0001t0004g0105 a0001c0001t0004g0113	5	314	0.0159	204	c.61 others(215): Show c.6182_*6183insCACGGCTGTAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAACAA CTCCACACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTGAA GCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAAC AACTCCACACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		4120		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642713	G G	GAAGGTGG others(197): Show GAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCC ATTAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGT CTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTATAG CCGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0042 a0003c0003t0042	a0003c0003t0042g0182 a0003c0003t0042g0182	1	314	0.0032	204	c.57 others(215): Show c.5774_*5775insAACGGCTATAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAACAA CTCCACACGCGCCACCTTAATGGCTGTAACACTCACCGTGAAGGTCTGAA GCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAAC AACTCCACACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		3712		chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326400	G G	GGTGTCAT others(197): Show GGTGTCATCTCTATACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATC TCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCCCTGCACAC TCCTTCCCCTCACATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCC TCACATGGTGTTAGTGTGTCATCTCTGCACACTCTCTCCCTGCACATGGT GTTAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0241 a0002c0002t0002g0241	1	298	0.0034	204	c.177 others(223): Show c.1774-2730_1774-2729insATACCCTCCCTCCCCTCACATGGTGT TAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTC ATCCCTGCACACTCCTTCCCCTCACATGGTGTTAGGGTGTCATCTCTATA CCCTCCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACACTCTCTC CCTGCACATGGTGTTAAGTGTCATCTCT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar

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Search Results (Total: 10000 hits)