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
ADCY4_chr14_24313359_24340071	24325222	G G	GCTTTGGG others(299): Show GCTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATA AGGGCCA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0272 a0001c0001t0004g0272	1	438	0.0023	306	c.182 others(323): Show c.1823+154_1823+155insTGGCCCTTATCTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGTGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAG	ADCY4	ENSG00000129467.14	transcript	ENST00000418030.7	protein_coding	14/24			chr14	TogoVar
AFF2_chrX_148495617_149005663	148581082	T T	TACACATA others(299): Show TACACATATGTGTATATGTATATATACACATATATACACATATGTGTATA TGTATATATACACATATATACACATATGTGTATATGTATATGTACACATA TATACACATATGTGTATATGTATATGTACACATATACACATATGTGTATA TGTATATGTACACATATATACACATATGTGTATATGTATATGTACACATA TATACACATATGTGTATATGTATATGTACACATATATACACATATGTGTA TATGTATATGTACACACATATACACATATGTGTATATGTATATGTACACA CATATAC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0097 a0001c0001t0058g0097	1	169	0.0059	306	c.48- others(323): Show c.48-70914_48-70913insCATATGTGTATATGTATATATACACATA TATACACATATGTGTATATGTATATATACACATATATACACATATGTGTA TATGTATATGTACACATATATACACATATGTGTATATGTATATGTACACA TATACACATATGTGTATATGTATATGTACACATATATACACATATGTGTA TATGTATATGTACACATATATACACATATGTGTATATGTATATGTACACA TATATACACATATGTGTATATGTATATGTACACACATATACACATATGTG TATATGTATATGTACACACATATACACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581337	T T	TACGTGTA others(299): Show TACGTGTACACACATATACACGTATACGTGTACACACATATACACGTATA CGTGTACACACATATACACGTATACGTGTACACACATATACACGTATACG TGTACACACATATACACGTATACGTGTACACACATATACACGTATACGTG TACACACATATACACGTATACGTGTACACACATATACACGTATACGTGTA CACACATATACACGTATACGTGTACACACATATACACGTATACGTGTACA CACATATACACGTATACGTGTACACACATATACACGTATACGTGTACACA CATATAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0049 a0001c0001t0104g0049	1	169	0.0059	306	c.48- others(323): Show c.48-70658_48-70657insGTACACACATATACACGTATACGTGTAC ACACATATACACGTATACGTGTACACACATATACACGTATACGTGTACAC ACATATACACGTATACGTGTACACACATATACACGTATACGTGTACACAC ATATACACGTATACGTGTACACACATATACACGTATACGTGTACACACAT ATACACGTATACGTGTACACACATATACACGTATACGTGTACACACATAT ACACGTATACGTGTACACACATATACACGTATACGTGTACACACATATAC ACGTATACGTGTACACACATATACACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581421	T T	TATATACG others(299): Show TATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACA CACACACGTATATATACGTATACGTGTACACACACACGTATATATACGTA TACGTGTACACACACACGTATATATACGTATACGTGTACACACACGTATA TATACGTATACGTGTACACACACACACGTATATACGTATACGTGTACACA CACATACACGTATATACGTATACGTGTACACACATATACGTATACGTGTA CACACATATACGTATACGTGTACACACATATACACGTATACGTGTACACA CATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0094 a0001c0002t0094	a0001c0002t0094g0106 a0001c0002t0094g0106	1	169	0.0059	306	c.48- others(323): Show c.48-70577_48-70576insTATACGTATACGTGTACACACACACGTA TATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACA CACACACGTATATATACGTATACGTGTACACACACACGTATATATACGTA TACGTGTACACACACGTATATATACGTATACGTGTACACACACACACGTA TATACGTATACGTGTACACACACATACACGTATATACGTATACGTGTACA CACATATACGTATACGTGTACACACATATACGTATACGTGTACACACATA TACACGTATACGTGTACACACATATACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGAP1_chr2_235489043_236136793	235597749	C C	CGTGTTTC others(299): Show CGTGTTTCCTGTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTGTGTGT GGAGCGTGCACGCGCTCCCGTGTTTCCTGTGTGTGGAGCGTGCACGCGCT CCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGT GTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAACGTGCACGCG TTCCCGTGTTTCCTTTGTGTGGAACGTGCACGCGCTCCCGTGTTTCCTTT GTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACG CGCTCCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0015 a0001c0009t0015	a0001c0009t0015g0038 a0001c0009t0015g0038	1	98	0.0102	306	c.163 others(327): Show c.163+102909_163+102910insGTGTGTGGAGCGTGCACGCGCTCC CGTGTTTCCTGTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTGTGTGT GGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCT CCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGT GTGGAACGTGCACGCGTTCCCGTGTTTCCTTTGTGTGGAACGTGCACGCG CTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTT GTGTGGAGCGTGCACGCGCTCCTGTGTTTCCT	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235597864	T T	TGTGGAGC others(299): Show TGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGC GCTCCCGTGTTTCCTTTGTGTGGAACGTGCACGCGTTCCCGTGTTTCCTT TGTGTGGAACGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCAC GCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCC TTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGC ACGCGCTCCCTTGTTTCCTTTGGGTGGAGCGTGCACGCGCTCCCGTGTTT CCTTTGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG03195.hp2 others(2): Show HG01884.hp2 HG02145.hp1 HG03195.hp2 NA18522.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0015 a0001c0001 a0001c0008 a0003c0015	a0001c0001t0009 a0001c0001t0027 a0001c0008t0001 others(2): Show a0001c0001t0009 a0001c0001t0027 a0001c0008t0001 a0001c0008t0028 a0003c0015t0002	a0001c0001t0009g0074 a0001c0001t0027g0062 a0001c0008t0001g0061 others(2): Show a0001c0001t0009g0074 a0001c0001t0027g0062 a0001c0008t0001g0061 a0001c0008t0028g0029 a0003c0015t0002g0075	5	98	0.0510	306	c.163 others(327): Show c.163+103079_163+103080insTTGTGTGGAACGTGCACGCGTTCC CGTGTTTCCTTTGTGTGGAACGTGCACGCGCTCCCGTGTTTCCTTTGTGT GGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCT CCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGT GTGGAGCGTGCACGCGCTCCCTTGTTTCCTTTGGGTGGAGCGTGCACGCG CTCCCGTGTTTCCTTTGGGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTT GTGTGGAGCGTGCACGCGCTCCCGTGTTTCCT	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235597864	T T	TGTGGAGC others(299): Show TGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGC GCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGTTCCCGTGTTTCCTT TGTGTGGAACGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCAC GCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCC TTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGC ACGCGCTCCCTTGTTTCCTTTGGGTGGAGCGTGCACGCGCTCCCGTGTTT CCTTTGG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19030.hp2 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0040 a0001c0002t0001 a0001c0005t0040	a0001c0002t0001g0004 a0001c0005t0040g0006 a0001c0002t0001g0004 a0001c0005t0040g0006	2	98	0.0204	306	c.163 others(327): Show c.163+103079_163+103080insTTGTGTGGAGCGTGCACGCGTTCC CGTGTTTCCTTTGTGTGGAACGTGCACGCGCTCCCGTGTTTCCTTTGTGT GGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCT CCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGT GTGGAGCGTGCACGCGCTCCCTTGTTTCCTTTGGGTGGAGCGTGCACGCG CTCCCGTGTTTCCTTTGGGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTT GTGTGGAGCGTGCACGCGCTCCCGTGTTTCCT	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGBL4_chr1_48527854_50028954	49680370	T T	TCCTTTCC others(299): Show TCCTTTCCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCT CTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0054 a0001c0001t0012g0054	1	104	0.0096	306	c.282 others(325): Show c.282+16942_282+16943insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAGGAAAGG	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	3/13			chr1	TogoVar
AHNAK2_chr14_104932253_104983374	104933730	G G	GCTGAGGG others(299): Show GCTGAGGGGACAGGGAGGGCGGGAGGGGACCCGCGGCTGAGTGAGGGGAG GGCGGGAGGGGACCCGCGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCG GGGCTGAGGGGACCGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGG GAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGGAGGGCGGGAGGGGACC CGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGACCCGGGGCTGAGTGAGG GGAGGGTGGGAGGGGAGCGGGGCTGAGGGGACCGGGAGGGCGGGAGGGGA CCTGCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0022 a0022	a0022c0215 a0022c0215	a0022c0215t0002 a0022c0215t0002	a0022c0215t0002g0224 a0022c0215t0002g0224	1	356	0.0028	306	c.43 others(317): Show c.4332_*4333insTCGCAGGTCCCCTCCCGCCCTCCCGGTCCCCTCA GCCCCGCTCCCCTCCCACCCTCCCCTCACTCAGCCCCGGGTCGCCTCCCG CCCTCCCGGTCCCCTCAGACGCGGGTCCCCTCCCGCCCTCCCCTCACTCA GCCCCGGGTCCCCTCCCGCCCTCCCCGTCCCCTCAGCCCCGCTCCCCTCC CGCCCTCCCGGTCCCCTCAGCCCCGCTCCCCTCCCGCCCTCCCCGTCCCC TCAGCCGCGGGTCCCCTCCCGCCCTCCCCTCACTCAGCCGCGGGTCCCCT CCCGCCCTCCCTGTCCCCTCAG	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding		3522		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104933730	G G	GCTGAGGG others(299): Show GCTGAGGGGACAGGGAGGGCGGGAGGGGACCCGCGGCTGAGTGAGGGGAG GGTGGGAGGGGACCCGCGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCG GGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGG GAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGGAGGGCGGGAGGGGACC CGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGACCCGGGGCTGAGTGAGG GGAGGGTGGGAGGGGAGCGGGGCTGAGGGGACCGGGAGGGCGGGAGGGGA CCTGCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG02109.hp1 HG00733.hp1 HG02109.hp1	a0055 a0205 a0055 a0205	a0055c0205 a0205c0245 a0055c0205 a0205c0245	a0055c0205t0002 a0205c0245t0002 a0055c0205t0002 a0205c0245t0002	a0055c0205t0002g0069 a0205c0245t0002g0067 a0055c0205t0002g0069 a0205c0245t0002g0067	2	356	0.0056	306	c.43 others(317): Show c.4332_*4333insTCGCAGGTCCCCTCCCGCCCTCCCGGTCCCCTCA GCCCCGCTCCCCTCCCACCCTCCCCTCACTCAGCCCCGGGTCGCCTCCCG CCCTCCCGGTCCCCTCAGACGCGGGTCCCCTCCCGCCCTCCCCTCACTCA GCCCCGGGTCCCCTCCCGCCCTCCCCGTCCCCTCAGCCCCGCTCCCCTCC CGCCCTCCCCGTCCCCTCAGCCCCGCTCCCCTCCCGCCCTCCCCGTCCCC TCAGCCGCGGGTCCCCTCCCACCCTCCCCTCACTCAGCCGCGGGTCCCCT CCCGCCCTCCCTGTCCCCTCAG	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding		3522		chr14	TogoVar
AHRR_chr5_316714_443285	318218	C C	CCCCACCC others(299): Show CCCCACCCTCCATCTCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTC CCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCA CCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATC CTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAA TCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCC CCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTTTA CCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0113 a0001c0001t0016g0113	1	268	0.0037	306	c.-36 others(317): Show c.-3612_-3611insCCCACCCTCCATCTCCCCCAACCCTGCACCTCCC CCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCT CCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCT GCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACC CTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTC ACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACC TCTCCCCATCTTTTACCTCCCT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3495		chr5	TogoVar
AHRR_chr5_316714_443285	415307	G G	GCGGGAGG others(299): Show GCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGG CCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTC TGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAGG GGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGG TCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTA GGGGCCGAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCT GGTCTGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0030 a0001c0001t0009g0030	1	268	0.0037	306	c.441 others(323): Show c.441+1874_441+1875insCGGGAGGCCTAGGGGCCGAGTCTCCCTG GTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCT AGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCC TGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGC CTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTC CCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGCGGGAG GCCTAGGGGCCGAGTCTGCCTGGTCTGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10			chr5	TogoVar
AHRR_chr5_316714_443285	415410	T T	TGGGAGGC others(299): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGC CGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCG GGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGG GCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGT CGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAG GGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTG GTGGGGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0146	1	268	0.0037	306	c.441 others(323): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGCTGGGA GGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAAT CTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGG GAGGCCTAGGGGCCGAATCTGCCTGGTC	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(299): Show TGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGC CGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCG GGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGG GCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGT CGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAG GGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTG GTGGGGC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	268	0.0037	306	c.441 others(323): Show c.441+1995_441+1996insGTCTGCCTGGTCGGGTGGGAGGCCTAGG GGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGG TCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTA GGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCT GGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCC TAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGC CTGGTGGGGCGGGAGGCCTAGGGGCCGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415648	C C	CGGGAGGC others(299): Show CGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGC CGAGTCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGG GGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGG GCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGT CTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAG GGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTG GTGGGGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0255 a0002c0002t0001g0255	1	268	0.0037	306	c.441 others(323): Show c.441+2264_441+2265insCGAGTCTGCCTGGTCTGCTGGGAGGCCT AGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTCCC TGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGC CTAGGGGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTG CCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAG GCCTAGGGGCCGAATCTGCCTGGTGGGGTGGGAGGCCTAGGGGCCGAATC TGCCTGGTCGGGCGGGAGGCCTAGGGGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANK3_chr10_60021298_60394875	60365093	T T	TAGATGCT others(299): Show TAGATGCTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCA GGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTG CAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCAACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0044 a0004c0044	a0004c0044t0001 a0004c0044t0001	a0004c0044t0001g0083 a0004c0044t0001g0083	1	192	0.0052	306	c.114 others(325): Show c.114+24331_114+24332insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGAGCATCT	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	1/43			chr10	TogoVar
ANKLE2_chr12_132720503_132766832	132759023	T T	TGGATCGC others(299): Show TGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATC GCTGCGGAGTGGCATCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCG GAGTGGCACCCCAGGGCACCCACATGGCAGAGTGGATTGCGCAGTGTGGC ACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCTG GGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCACCCCGGGGCAC CCACGTGGCAGAGTGGATCACGCAGAGTGGCACCCCGGGGCACCCACGTG GCAGAGA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0304 a0002c0002t0001g0304	1	350	0.0029	306	c.181 others(323): Show c.181+2594_181+2595insTCTCTGCCACGTGGGTGCCCCGGGGTGC CACTCTGCGTGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCCG CAGCGATCCACTCTGCCACGTGGGTGCCCCAGGGTGCCACTCCGCAGCGA TCCTCTCTGCCACGTGGGTGCCCCGGGGTGCCACACTGCGCAATCCACTC TGCCATGTGGGTGCCCTGGGGTGCCACTCCGCAGCGATCCACTCTGCCAC GTGGGTGCCCCGGGATGCCACTCCGCAGCGATCCACTCTGCCACGTGGGT GCCCCGGGGTGCCACTCCGCAGCGATCC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759046	C C	CGGGGCAC others(299): Show CGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCATCCCGGGGC ACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCACCCCAGGGCACCCAC ATGGCAGAGTGGATTGCGCAGTGTGGCACCCCGGGGCACCCACGTGGCAG AGAGGATCGCTGCGGAGTGGCACCCTGGGGCACCCACGTGGCAGAGTGGA TCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCACGC AGAGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTG GCACCCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01106.hp2 others(18): Show HG00642.hp1 HG00735.hp1 HG01106.hp2 HG01884.hp2 HG02040.hp1 HG02109.hp2 HG02258.hp1 HG02293.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp2 HG03017.hp1 HG03491.hp1 HG03654.hp2 HG03688.hp2 HG03834.hp1 HG03942.hp1 HG04204.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0004 a0002c0002t0001 a0005c0005t0020 a0001c0001t0004 a0002c0002t0001 a0005c0005t0020	a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0115 others(18): Show a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0115 a0001c0001t0004g0116 a0002c0002t0001g0118 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0313 a0005c0005t0020g0312	21	350	0.0600	306	c.181 others(323): Show c.181+2571_181+2572insAGGGTGCCACTCCGCAGCGATCCTCTCT GCCACGTGGGTGCCCCGGGGTGCCACTCTGCGTGATCCACTCTGCCACGT GGGTGCCCCGGGGTGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGC CCCAGGGTGCCACTCCGCAGCGATCCTCTCTGCCACGTGGGTGCCCCGGG GTGCCACACTGCGCAATCCACTCTGCCATGTGGGTGCCCTGGGGTGCCAC TCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGATGCCACTCCGCA GCGATCCACTCTGCCACGTGGGTGCCCC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759265	G G	GGGGCACC others(299): Show GGGGCACCCACGTGGCAGAGTGGATCACGCAGAGTGGCACCCCGGGGCAC CCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGT GGCAGAGTGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGA GAGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGAT CGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCACGCA GAGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTGG CACCCCA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02895.hp1 HG02897.hp2 others(2): Show HG01891.hp2 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0135 a0001c0001t0001g0143 others(2): Show a0001c0001t0001g0065 a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0331 a0001c0001t0001g0332	5	350	0.0143	306	c.181 others(323): Show c.181+2352_181+2353insTGGGGTGCCACTCCGCAGCGATCCTCTC TGCCACGTGGGTGCCCCGGGGTGCCACTCTGCGTGATCCACTCTGCCACG TGGGTGCCCCGGGGTGCCACTCCGCAGCGATCCTCTCTGCCACGTGGGTG CCCCGGGGTGCCACTCCGCAGCGATCCTCTCTGCCACGTGGGTGCCCCGG GGTGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCC ACTCCGCAGCGATCCTCTCTGCCACGTGGGTGCCCCGGGGTGCCACTCTG CGTGATCCACTCTGCCACGTGGGTGCCC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANP32E_chr1_150213417_150241112	150227793	T T	TCAAATTT others(299): Show TCAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACCG CAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CGCGCCCGGCTAATTTTTTATATTTTTAGTAGAGACGGGGTTTCACCTTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGC CTCCCAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp1 HG01884.hp1 HG00741.hp1 HG01175.hp1 HG01884.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0002 a0002c0001t0020 a0002c0001t0001 a0002c0001t0002 a0002c0001t0020	a0002c0001t0001g0051 a0002c0001t0002g0187 a0002c0001t0020g0302 a0002c0001t0001g0051 a0002c0001t0002g0187 a0002c0001t0020g0302	3	370	0.0081	306	c.494 others(321): Show c.494-999_494-998insTTGGGAGGCCGAGGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATATAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCGGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGAAATTTG	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	4/6			chr1	TogoVar
ANXA2_chr15_60342151_60402986	60350047	G G	GAGGGGAA others(299): Show GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGAGAGGGAGGGGAAGGCAAGGA GGCAGGAGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGAGAAGGCA GGGAGGC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	334	0.0030	306	c.838 others(321): Show c.838-851_838-850insGCCTCCCTGCCTTCTCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCTCCTGCCTCCTTGCCTTCCCCTCCCTCTCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350065	C C	CAGGGGAA others(299): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGAGAGGGA GGGGAAGGCAAGGAGGCAGGAGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAGGAGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	334	0.0030	306	c.838 others(321): Show c.838-869_838-868insCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCTCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCTCCTGCCTCCTTGCCTTCCCCTCCCTCTCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350101	G G	GAGGGGAA others(299): Show GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	334	0.0030	306	c.838 others(321): Show c.838-905_838-904insGCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350119	G G	GAGGGGAA others(299): Show GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0036 a0003c0004t0001g0036	1	334	0.0030	306	c.838 others(321): Show c.838-923_838-922insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350155	C C	CAGGGGAA others(299): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0290 a0001c0001t0001g0291	2	334	0.0060	306	c.838 others(321): Show c.838-959_838-958insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
APOC4_chr19_44937237_44950496	44938496	G G	GTTTTTTT others(299): Show GTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCGCACTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGACCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	398	0.0025	306	c.-37 others(317): Show c.-3782_-3781insTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCG CACTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGACCGGCTAATTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTGTT	APOC4	ENSG00000267467.4	transcript	ENST00000592954.2	protein_coding		3740		chr19	TogoVar
ARHGAP18_chr6_129571132_129715177	129573951	C C	CAAAAATT others(299): Show CAAAAATTAACTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01099.hp2 HG00735.hp1 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0062 a0001c0009t0001g0122 a0001c0001t0001g0062 a0001c0009t0001g0122	2	238	0.0084	306	c.45 others(317): Show c.4561_*4562insTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTT GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCGAGTTAATTTTT	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding		2180		chr6	TogoVar
ARHGAP26_chr5_142765377_143234007	142975430	T T	TCTGTCTG others(299): Show TCTGTCTGTCTATTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02622.hp1 others(12): Show HG01069.hp2 HG01071.hp2 HG02622.hp1 HG02723.hp1 HG02809.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 others(8): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0027 a0001c0001t0031 a0001c0001t0033 a0001c0001t0053	a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0006g0084 others(12): Show a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0006g0084 a0001c0001t0006g0095 a0001c0001t0006g0096 a0001c0001t0012g0114 a0001c0001t0013g0065 a0001c0001t0015g0037 a0001c0001t0016g0024 a0001c0001t0019g0010 a0001c0001t0019g0011 a0001c0001t0027g0097 a0001c0001t0031g0003 a0001c0001t0033g0053 a0001c0001t0053g0082	15	198	0.0758	306	c.110 others(327): Show c.1108-38634_1108-38633insTTTTTTTTTGAGACGGAGTCTCGC TCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCCTGTCTGTCTATTTTT	ARHGAP26	ENSG00000145819.18	transcript	ENST00000645722.2	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGAP42_chr11_100682288_100998941	100984371	A A	AGATTGTT others(299): Show AGATTGTTGTGATTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0060 a0002c0004t0007g0060	1	286	0.0035	306	c.245 others(325): Show c.2457-3126_2457-3125insTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCGATTGTTGTGATTTTT	ARHGAP42	ENSG00000165895.19	transcript	ENST00000298815.13	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF10_chr8_1818926_1963641	1825146	C C	CTCCGCAC others(299): Show CTCCGCACCCCACCTGTCCCTCCGCACCCCACCTGTTCACCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTG CACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCC CCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCAC CTGTTCA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0078 a0002c0078	a0002c0078t0002 a0002c0078t0002	a0002c0078t0002g0036 a0002c0078t0002g0036	1	363	0.0028	306	c.-48 others(323): Show c.-48+1033_-48+1034insTCCGCACCCCACCTGTCCCTCCGCACCC CACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCC CGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCC AGCTGTCCCCCCACACCCCACCTGTTCA	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825174	C C	CCACCTGT others(299): Show CCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTT ACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCC ACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCC TGCACCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0073 a0001c0006t0001g0073	1	363	0.0028	306	c.-48 others(323): Show c.-48+1068_-48+1069insTCACCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTC ACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCG CACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTG TTCACCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACC CCACCTGTCCCCCCTGCACCTCACCTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1849893	T T	TGTGGACA others(299): Show TGTGGACACAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACA CAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGG GCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAAT GCTGAGGAGGGCATGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAG GAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGC GTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGC CGGCTGC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02293.hp1 HG01943.hp1 HG02293.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0215 a0001c0019t0001g0217 a0001c0019t0001g0215 a0001c0019t0001g0217	2	363	0.0055	306	c.37+ others(321): Show c.37+6467_37+6468insGGCAAATGCTGAGGAGGGCGTGGGCCGGCT GCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGG ACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAG AGGGCAAATGCTGAGGAGGGCATGGGCCGGCTGCGTGGACACAGAGGGCA AATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCT GAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAG GGCGTGGGCCGGCTGCGTGGACACAG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF7_chr13_111110310_111310732	111221368	T T	TAGATATA others(299): Show TAGATATATATGTCTATATATATCTATATAGATATATATGTCTATATATA TCTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTA TATATATCTATATAGATATATATGTCTATATATATCTATATAGATATATA TGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGA TATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTA TATAGATATATATAGACATATATATCTCTATATATATCTATATAGATATA TATAGAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	274	0.0037	306	c.670 others(323): Show c.670+3489_670+3490insGATATATATGTCTATATATATCTATATA GATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATC TATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATA TATATCTATATAGATATATATGTCTATATATATCTATATAGATATATATG TCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGATA TATATGTCTATATATATCTATATAGATATATATAGACATATATATCTCTA TATATATCTATATAGATATATATAGACA	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARMH3_chr10_101840599_102061173	101886349	A A	AAAAAAAC others(299): Show AAAAAAACAAAAATCCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01168.hp1 HG01106.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0006g0109 a0001c0001t0006g0110	2	262	0.0076	306	c.186 others(325): Show c.1860+3062_1860+3063insGTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGGATTTTTGTTTTTT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	24/25			chr10	TogoVar
ARNT2_chr15_80399382_80602933	80522844	T T	TAAAAATT others(299): Show TAAAAATTTTTTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19043.hp2 HG02630.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0031 a0001c0001t0006 a0001c0001t0031	a0001c0001t0006g0135 a0001c0001t0031g0099 a0001c0001t0006g0135 a0001c0001t0031g0099	2	268	0.0075	306	c.877 others(323): Show c.877+8444_877+8445insTTTTTTTCGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCC TGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAA	ARNT2	ENSG00000172379.22	transcript	ENST00000303329.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ASPG_chr14_104080700_104120582	104085483	A A	ACCCCGCC others(299): Show ACCCCGCCAGGCCCCGCCCCGCACCCCGCCAGGCCCCGCCCCCACCCCGC CAGGCCCCGCCCCCACCCCGCCAGGCCCCGCCTCTCTCTCCGACCCTGGA CAGTCCCCGGGACCCACCCCGCCCCCAGGTCCTGCCCCCGCCCGCCTCCG CGGGGCCTCCCACCCTCCCGGGCAGACTCCACTCCCGCCCCCTCCCCGTG GGTGCCCCCGCCAGGCCCCGCCCCCACCCCGCCAGGCCCCGCCCCACCCC GCCATAACCCGCCCCGCCCCCCGCCAGGGCCCGCCCCGCCCCCCGCCAGG CCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01884.hp1 HG02602.hp2 others(1): Show HG00639.hp1 HG01884.hp1 HG02602.hp2 HG03516.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0004 a0004c0008t0004 a0001c0001t0004 a0004c0008t0004	a0001c0001t0004g0242 a0004c0008t0004g0021 a0001c0001t0004g0242 a0004c0008t0004g0021	4	368	0.0109	306	c.-28 others(315): Show c.-288_-287insCCCCGCCAGGCCCCGCCCCGCACCCCGCCAGGCCCC GCCCCCACCCCGCCAGGCCCCGCCCCCACCCCGCCAGGCCCCGCCTCTCT CTCCGACCCTGGACAGTCCCCGGGACCCACCCCGCCCCCAGGTCCTGCCC CCGCCCGCCTCCGCGGGGCCTCCCACCCTCCCGGGCAGACTCCACTCCCG CCCCCTCCCCGTGGGTGCCCCCGCCAGGCCCCGCCCCCACCCCGCCAGGC CCCGCCCCACCCCGCCATAACCCGCCCCGCCCCCCGCCAGGGCCCGCCCC GCCCCCCGCCAGGCCCCGCC	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding		216		chr14	TogoVar
ATG5_chr6_106179476_106330760	106251644	A A	AGGGAGGG others(299): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGAGAGA GGGAGGGAGGGAGGGGGAGGGGGAGAGAGGGAGGGAGGGGGAGAGGGAGA GAGGGAGGGGGAGAGGGAGGGAGGGAGAGAGGGAGAGGGAGAGGGAGGGG GGAGAGAGGGAGGGAGGGTAAGAGAGGGAGAGAGGGAGGGGGAGAGAGGG AGGGAGGGAGAGAGAGGGAGAGAGGGAGGGGGGGAGAAAGGAGGGGGAGG GGGGAGAGAGGGAGGGTGGGGGAGGGAGGGAGGGAGGGGGAGGGAGGGAG GGAGGGG	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	358	0.0028	306	c.479 others(323): Show c.479-3401_479-3400insCCCCTCCCTCCCTCCCTCCCCCTCCCTC CCTCCCTCCCCCACCCTCCCTCTCTCCCCCCTCCCCCTCCTTTCTCCCCC CCTCCCTCTCTCCCTCTCTCTCCCTCCCTCCCTCTCTCCCCCTCCCTCTC TCCCTCTCTTACCCTCCCTCCCTCTCTCCCCCCTCCCTCTCCCTCTCCCT CTCTCCCTCCCTCCCTCTCCCCCTCCCTCTCTCCCTCTCCCCCTCCCTCC CTCTCTCCCCCTCCCCCTCCCTCCCTCCCTCTCTCCCTTCTCCCTCTCTC CGCCTCCCTCCCTCCCTCCCTCCCTCCC	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7			chr6	TogoVar
ATG5_chr6_106179476_106330760	106251644	A A	AGGGAGGG others(299): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGA GAGAGGGAGGGAGGGAGGGGGAGGGGGAGAGAGGGAGGGAGGGGGAGAGG GAGAGAGGGAGGGGGAGAGGGAGGGAGGGAGAGAGGGAGAGGGAGAGGGA GGGGGAGAGAGGGAGGGAGGGTAAGAGAGGGAGAGAGGGAGGGGGAGAGA GGGAGGGAGGGAGAGAGAGGGAGAGAGGGAGGGGGGAGAAAGGAGGGGGA GGGGGGAGAGAGGGAGGGTGGGGGGAGGGAGGGAGGGGGAGGGGGGGGAG GGAGGGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	358	0.0028	306	c.479 others(323): Show c.479-3401_479-3400insCCCCTCCCTCCCCCCCCTCCCCCTCCCT CCCTCCCCCCACCCTCCCTCTCTCCCCCCTCCCCCTCCTTTCTCCCCCCT CCCTCTCTCCCTCTCTCTCCCTCCCTCCCTCTCTCCCCCTCCCTCTCTCC CTCTCTTACCCTCCCTCCCTCTCTCCCCCTCCCTCTCCCTCTCCCTCTCT CCCTCCCTCCCTCTCCCCCTCCCTCTCTCCCTCTCCCCCTCCCTCCCTCT CTCCCCCTCCCCCTCCCTCCCTCCCTCTCTCCCTTCTCCCTCTCTCCGCC TCCCTCCCTCCCTCCCTCCCTCCCTCCC	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7			chr6	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(299): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTG GGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCT GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0165 a0001c0002t0010g0165	1	292	0.0034	306	c.207 others(327): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC GGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCC GGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(299): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCA CCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCC ACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACC CCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCCACCTCCCC CCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCC CCCACCC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	254	0.0039	306	c.39+ others(323): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCC ACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACC TCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCAC CCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCCA CCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCC ACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(299): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCTCCCCCCACCCC CCACCCCCCACCTCCCCCCACCCCCACCCCCCACCCCCACCCCCCACCCC CCACCCCCCACCTCCCCCCACCCCCCCACCCCCACCCCCCACCCCCCCAC CCCCCACCTCCCCCCACCCCCACCTCCCCCCACCCCCCACCTCCCCCCAC CCCCACCCCCTACCCCCCACCCCCCCACCTCCCCCCACCCCCCCACCTCC CCCCACC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0036 a0001c0006t0004g0036	1	254	0.0039	306	c.39+ others(323): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCTCCCC CCACCCCCCACCCCCCACCTCCCCCCACCCCCACCCCCCACCCCCACCCC CCACCCCCCACCCCCCACCTCCCCCCACCCCCCCACCCCCACCCCCCACC CCCCCACCCCCCACCTCCCCCCACCCCCACCTCCCCCCACCCCCCACCTC CCCCCACCCCCACCCCCTACCCCCCACCCCCCCACCTCCCCCCACCCCCC CACCTCCCCCCACCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57642305	T T	TAAGGTGG others(299): Show TAAGGTGGCGCGTGTGGAGTTGTTCATTCCTTCCGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCC GTGAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGT CTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAG CCGTTAAGGTGGCGCGTCTGCAGTTGTTCGTTCCTTCCGGTGGGTTCGTG GTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTAC AGCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0005 a0001c0001t0032g0005	1	314	0.0032	306	c.61 others(317): Show c.6182_*6183insCACGGCTGTAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAACAA CTGCAGACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTGAA GCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAAC AACTCCACACGCGCCACCTTCACGGCTGTAACACTCACCGTGAAGGTCTG AAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAATGA ACAACTCCACACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		4120		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642305	T T	TAAGGTGG others(299): Show TAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACAGTGAGTGTTACAGCC GTTAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGT CTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAG CCGTGAAGGTGGCGCGTCTGCAGTTGTTCGTTCCTTCCGGTGGGTTCGTG GTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTAC AGCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0294 a0001c0001t0013g0294	1	314	0.0032	306	c.61 others(317): Show c.6182_*6183insCACGGCTGTAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAACAA CTGCAGACGCGCCACCTTCACGGCTGTAACACTCACCGTGAAGGTCTGAA GCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAAC AACTCCACACGCGCCACCTTAACGGCTGTAACACTCACTGTGAAGGTCTG AAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGA ACAACTCCACACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		4120		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642305	T T	TAAGGTGG others(299): Show TAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACAGTGAGTGTTACAGCC GTTAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGT CTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAG CCGTTAAGGTGGCGCGTCTGCAGTTGTTCGTTCCTTCCGGTGGGTTCGTG GTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTAC AGCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01106.hp2 HG01123.hp2 others(15): Show HG00741.hp1 HG01106.hp2 HG01123.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01952.hp1 HG01993.hp1 HG02004.hp1 HG02683.hp1 HG03490.hp1 HG03491.hp2 NA20805.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0010 a0001c0001 a0010c0010	a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 others(2): Show a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0027 a0010c0010t0006	a0001c0001t0006g0045 a0001c0001t0006g0057 a0001c0001t0006g0069 others(15): Show a0001c0001t0006g0045 a0001c0001t0006g0057 a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0006g0082 a0001c0001t0006g0095 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0013g0223 a0001c0001t0013g0231 a0001c0001t0013g0268 a0001c0001t0015g0166 a0001c0001t0015g0177 a0001c0001t0015g0187 a0001c0001t0027g0307 a0001c0001t0027g0310 a0010c0010t0006g0028	18	314	0.0573	306	c.61 others(317): Show c.6182_*6183insCACGGCTGTAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAACAA CTGCAGACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTGAA GCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAAC AACTCCACACGCGCCACCTTAACGGCTGTAACACTCACTGTGAAGGTCTG AAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGA ACAACTCCACACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		4120		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642305	T T	TAAGGTGG others(299): Show TAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCC GTTAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGT CTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAG CCGTGAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTG GTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTAC AGCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0031 a0001c0019t0031	a0001c0019t0031g0062 a0001c0019t0031g0062	1	314	0.0032	306	c.61 others(317): Show c.6182_*6183insCACGGCTGTAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAACAA CTCCACACGCGCCACCTTCACGGCTGTAACACTCACCGTGAAGGTCTGAA GCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAAC AACTCCACACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTG AAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGA ACAACTCCACACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		4120		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642305	T T	TAAGGTGG others(299): Show TAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCC GTTAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGT CTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAG CCGTTAAGGTGGCGCGTCTGCAGTTGTTCGTTCCTTCCGGTGGGTTCGTG GTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTAC AGCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0074 a0001c0001t0006g0074	1	314	0.0032	306	c.61 others(317): Show c.6182_*6183insCACGGCTGTAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAACAA CTGCAGACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTGAA GCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAAC AACTCCACACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTG AAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGA ACAACTCCACACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		4120		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642305	T T	TAAGGTGG others(299): Show TAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCC GTTAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGT CTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAG CCGTTAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTG GTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTAC AGCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG01168.hp2 others(9): Show HG00280.hp1 HG00323.hp1 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG02132.hp1 HG02280.hp2 HG02300.hp1 HG02738.hp1 HG02886.hp1 HG03239.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015	a0001c0001t0006g0023 a0001c0001t0006g0030 a0001c0001t0006g0054 others(9): Show a0001c0001t0006g0023 a0001c0001t0006g0030 a0001c0001t0006g0054 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0093 a0001c0001t0006g0106 a0001c0001t0013g0216 a0001c0001t0013g0271 a0001c0001t0013g0272 a0001c0001t0015g0156 a0001c0001t0015g0163	12	314	0.0382	306	c.61 others(317): Show c.6182_*6183insCACGGCTGTAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAACAA CTCCACACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTGAA GCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAAC AACTCCACACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTG AAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGA ACAACTCCACACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		4120		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642441	G G	GGTGGGTT others(299): Show GGTGGGTTCGTGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCAC GGTGAGTGTTACAGCCGTGAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTT CCGGTGGGTTCGTGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTC ACGGTGAGTGTTACAGCCGTGAAGGTGGCGCGTGTGGAGTTGTTCGTTCC TTCCGGTGGGTTCGTGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCT TCACGGTGAGTGTTACAGCCGTGAAGGTGGCGCGTGTGGAGTTGTTCGTT CCTTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0045 a0001c0016t0045	a0001c0016t0045g0278 a0001c0016t0045g0278	1	314	0.0032	306	c.60 others(317): Show c.6046_*6047insGGGAAGGAACGAACAACTCCACACGCGCCACCTT CACGGCTGTAACACTCACCGTGAAGGTCTGAAGCTTCACTCCTGAAGCTA GCGAGACCACGAACCCACCGGAAGGAACGAACAACTCCACACGCGCCACC TTCACGGCTGTAACACTCACCGTGAAGGTCTGAAGCTTCACTCCTGAAGC TAGCGAGACCACGAACCCACCGGAAGGAACGAACAACTCCACACGCGCCA CCTTCACGGCTGTAACACTCACCGTGAAGGTCTGAAGCTTCACTCCTGAA GCTAGCGAGACCACGAACCCAC	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		3984		chr18	TogoVar
ATPAF1_chr1_46627737_46673364	46627824	T T	TTTTTTTT others(299): Show TTTTTTTTTTTTGAGACCGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAGT TCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCCCCTGTCACCA TGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTG GCCAGGATGGTCTTGATCGCCTGACCTTGTGATTTGCCCACCTTGGCCTC CCAAAGTGCTGGGATTACAGCTGTGAGCCACTGCTCTCGGCCGCCCACCC CCCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	412	0.0024	306	c.79 others(317): Show c.7951_*7952insGGGTGGGGGGTGGGCGGCCGAGAGCAGTGGCTCA CAGCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAAATCACAAGGT CAGGCGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTA AAAATACAAAAATTAGCCAGGCATGGTGACAGGGGCCTGTAATCCCAGCT ACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGCAGAGGTT GCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGA GACTCGGTCTCAAAAAAAAAAA	ATPAF1	ENSG00000123472.13	transcript	ENST00000574428.6	protein_coding		4912		chr1	TogoVar
AUTS2_chr7_69593475_70798506	70004170	A A	AATATATA others(299): Show AATATATATGAATGTGTTATATGTGAATATATATAATATATATGAATGTG TTATATGTGAATATATATAATATATATGAATGTGTTATATGTGAATATAT ATATTATATATGAATGTGTTATATGTGAATATATATAATATATATGAATG TGTTATATGTGAATATATATAATATATATGAATGTGTTATATGTGAATAT ATATAATATATATGAATGTGTTATATGTGAATATATATATTATATATGAA TGTGTTATATGTGAATATATATAATATGAATGTGTTATATGTGAATATAT ATATTAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	76	0.0132	306	c.522 others(327): Show c.522+104676_522+104677insATATGAATGTGTTATATGTGAATA TATATAATATATATGAATGTGTTATATGTGAATATATATAATATATATGA ATGTGTTATATGTGAATATATATATTATATATGAATGTGTTATATGTGAA TATATATAATATATATGAATGTGTTATATGTGAATATATATAATATATAT GAATGTGTTATATGTGAATATATATAATATATATGAATGTGTTATATGTG AATATATATATTATATATGAATGTGTTATATGTGAATATATATAATATGA ATGTGTTATATGTGAATATATATATTATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar

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Search Results (Total: 10000 hits)