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
CD209_chr19_7734993_7752534	7739125	A A	ACAAAAAA others(309): Show ACAAAAAAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG03491.hp1 HG00609.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0046 a0001c0001t0001 a0001c0001t0046	a0001c0001t0001g0001 a0001c0001t0046g0052 a0001c0001t0001g0001 a0001c0001t0046g0052	2	454	0.0044	316	c.39 others(327): Show c.3913_*3914insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAATTTTTTTG	CD209	ENSG00000090659.18	transcript	ENST00000315599.12	protein_coding		867		chr19	TogoVar
CD209_chr19_7734993_7752534	7739125	A A	ACAAAAAA others(309): Show ACAAAAAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCCCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	454	0.0022	316	c.39 others(327): Show c.3913_*3914insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGGGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAATTTTTTG	CD209	ENSG00000090659.18	transcript	ENST00000315599.12	protein_coding		867		chr19	TogoVar
CD209_chr19_7734993_7752534	7739125	A A	ACAAAAAA others(309): Show ACAAAAAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(111): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG01074.hp1 HG01123.hp2 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01993.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02523.hp2 HG02602.hp2 HG02622.hp1 HG02717.hp2 HG02735.hp2 HG03139.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18747.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18990.hp1 NA18992.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19075.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0008 a0016 others(1): Show a0001 a0008 a0016 a0017	a0001c0001 a0008c0017 a0016c0009 others(1): Show a0001c0001 a0008c0017 a0016c0009 a0017c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(16): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0020 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0032 a0001c0001t0034 a0001c0001t0045 a0001c0001t0048 a0001c0001t0052 a0001c0001t0062 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0008c0017t0001 a0016c0009t0001 a0017c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0039 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0004g0004 a0001c0001t0009g0010 a0001c0001t0020g0019 a0001c0001t0022g0020 a0001c0001t0025g0026 a0001c0001t0026g0035 a0001c0001t0032g0047 a0001c0001t0034g0048 a0001c0001t0045g0051 a0001c0001t0048g0054 a0001c0001t0052g0056 a0001c0001t0062g0062 a0001c0001t0071g0080 a0001c0001t0073g0068 a0001c0001t0074g0069 a0008c0017t0001g0074 a0016c0009t0001g0042 a0017c0007t0001g0041	114	454	0.2511	316	c.39 others(327): Show c.3913_*3914insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAATTTTTTG	CD209	ENSG00000090659.18	transcript	ENST00000315599.12	protein_coding		867		chr19	TogoVar
CD209_chr19_7734993_7752534	7739125	A A	ACAAAAAA others(309): Show ACAAAAAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACTGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	454	0.0022	316	c.39 others(327): Show c.3913_*3914insGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAATTTTTTG	CD209	ENSG00000090659.18	transcript	ENST00000315599.12	protein_coding		867		chr19	TogoVar
CD209_chr19_7734993_7752534	7739125	A A	ACAAAAAA others(309): Show ACAAAAAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGTGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	454	0.0022	316	c.39 others(327): Show c.3913_*3914insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCACGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAATTTTTTG	CD209	ENSG00000090659.18	transcript	ENST00000315599.12	protein_coding		867		chr19	TogoVar
CD44_chr11_35134171_35237402	35234841	T T	TAAAACAA others(309): Show TAAAACAATCAATGTTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGAGC GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAAGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGC CTGGGCTACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0362 a0001c0008t0005g0362	1	378	0.0027	316	c.55 others(327): Show c.5508_*5509insAAAACAATCAATGTTGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTAGCGAGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCTACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CD44	ENSG00000026508.21	transcript	ENST00000428726.8	protein_coding		2440		chr11	TogoVar
CDC123_chr10_12191188_12255589	12237433	T T	TTATTATT others(309): Show TTATTATTATTATTATTATTATTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTGTCGCCCACGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGCC TCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0152 a0001c0001t0004g0152	1	392	0.0026	316	c.688 others(331): Show c.688+180_688+181insATTATTATTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTGTCGCCCACGCTGGAGTGCAGTGGCGCAATCTCGGCTCACT GCAGCCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTATTATTATTATT	CDC123	ENSG00000151465.14	transcript	ENST00000281141.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH4_chr20_61247261_61945617	61528359	A A	AGAGCGAG others(309): Show AGAGCGAGACTCCCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0044 a0001c0007t0010g0044	1	106	0.0094	316	c.170 others(337): Show c.170-215187_170-215186insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTT AGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCGAGACTCCCTTTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDHR1_chr10_84189537_84223694	84223487	G G	GTTAATTG others(309): Show GTTAATTGGGTATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02148.hp1 NA18967.hp1 others(2): Show HG01175.hp1 HG02148.hp1 NA18967.hp1 NA18987.hp2 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0015 a0001c0002t0002g0040 others(2): Show a0001c0002t0002g0009 a0001c0002t0002g0015 a0001c0002t0002g0040 a0001c0002t0002g0068 a0001c0002t0002g0119	5	388	0.0129	316	c.88 others(327): Show c.8866_*8867insTTAATTGGGTATTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCC	CDHR1	ENSG00000148600.15	transcript	ENST00000623527.4	protein_coding		4794		chr10	TogoVar
CDKAL1_chr6_20529457_21237404	20887675	T T	TAGGATTA others(309): Show TAGGATTACTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGTAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03579.hp2 NA18983.hp2 HG00544.hp2 HG03579.hp2 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0010 a0002c0007 a0001c0002 a0001c0010 a0002c0007	a0001c0002t0003 a0001c0010t0007 a0002c0007t0029 a0001c0002t0003 a0001c0010t0007 a0002c0007t0029	a0001c0002t0003g0073 a0001c0010t0007g0044 a0002c0007t0029g0014 a0001c0002t0003g0073 a0001c0010t0007g0044 a0002c0007t0029g0014	3	196	0.0153	316	c.742 others(335): Show c.742+41510_742+41511insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGTAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCAGGATTACTTTCT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL2_chr16_80592907_80809598	80663084	T T	TAAAAAAA others(309): Show TAAAAAAATTGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02735.hp1 HG00323.hp2 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0022 a0001c0002t0002 a0001c0002t0022	a0001c0002t0002g0102 a0001c0002t0022g0105 a0001c0002t0002g0102 a0001c0002t0022g0105	2	258	0.0078	316	c.616 others(335): Show c.616+21453_616+21454insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCACAATTTTTTT	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	2/6			chr16	TogoVar
CECR2_chr22_17364460_17563151	17432004	T T	TGACATTT others(309): Show TGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGG ATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACT TTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATC ACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCC TGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCAC TCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTA TGGATTTGCCCACTCTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03540.hp1 HG03195.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0159 a0001c0001t0019g0285 a0001c0001t0019g0159 a0001c0001t0019g0285	2	324	0.0062	316	c.127 others(335): Show c.127-45531_127-45530insTGCCCACTCTGGACATTTCCTGTAAG TGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGA CATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATT TGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGT GCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACAC AGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTA AGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CENPJ_chr13_24877279_24927861	24881964	A A	ATATAGAT others(309): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0025 a0001c0002t0007g0025	1	440	0.0023	316	c.12 others(327): Show c.1212_*1213insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTA TCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATC TATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTA TATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATA TATAGATGTATCTATATATAGATGTATCTATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		314		chr13	TogoVar
CENPP_chr9_92320953_92625529	92520052	A A	AGGGAAGA others(309): Show AGGGAAGATTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0075 a0001c0001t0010g0075	1	260	0.0039	316	c.565 others(335): Show c.565-91249_565-91248insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCGGGAAGATTTCTT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP46_chr10_132803392_132947570	132826381	A A	AGAGCCAC others(309): Show AGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGAACCAGAGCCACAGAG ACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCATGGAGCCAGGCAGGAGC CAGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCACGGA GACCAGCCACGGAGCCAGGGAGGAGCCGGAGCCACAGAGACCAGCCACGG AGCCAGGCAGGGGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGCAGGA GCCGGAGCCGCAGAGACCCACCACAGAGCCAGGCAGGAGTCGGAGCCACG GAGCCAGGCAGGAACTG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02630.hp1 HG01257.hp2 HG02630.hp1	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0002 a0012c0025t0002	a0012c0025t0002g0007 a0012c0025t0002g0014 a0012c0025t0002g0007 a0012c0025t0002g0014	2	246	0.0081	316	c.711 others(335): Show c.7117+6976_7117+6977insCAGTTCCTGCCTGGCTCCGTGGCTCC GACTCCTGCCTGGCTCTGTGGTGGGTCTCTGCGGCTCCGGCTCCTGCCTG GCTCCGTGGCTGGTCTCCGTGGCTCCGGCCCCTGCCTGGCTCCGTGGCTG GTCTCTGTGGCTCCGGCTCCTCCCTGGCTCCGTGGCTGGTCTCCGTGGCT CCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCTGGCTCCTGCC TGGCTCCATGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGC TCTGGTTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFD_chr19_854664_868641	861199	T T	TCTGCACC others(309): Show TCTGCACCCTCACCCCGGGTCCAGCCTCGAACTCTCCTGCTGCATGGGGA CCCCGCCCCACAACCCCCACACCCTCACCCCGGGTCTAGCCTCGACCTCT CTTGCTGCGCTCGGAGCCCCCCCACCCCCTGCACCCTCACCCCGGGTCCA GCCTCGACCTCTCCTGCTGCATGGGGACCCCGCCCCACAACCCCCACACC CTCACCCCGGGTCTAGCCTCGACCTCTCTTGCTGCGCTCGGAGCCCCCCC ACCCCCTGCACCCTCACCCCGGGTCTAGCCTCGACCTCTCTTGCTGCGCT CGGAGCCCCCCCACCCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02897.hp2 HG06807.hp2 HG02258.hp2 HG02897.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	3	287	0.0105	316	c.358 others(331): Show c.358-316_358-315insCACAACCCCCACACCCTCACCCCGGGTCTA GCCTCGACCTCTCTTGCTGCGCTCGGAGCCCCCCCACCCCCTGCACCCTC ACCCCGGGTCTAGCCTCGACCTCTCTTGCTGCGCTCGGAGCCCCCCCACC CCCTGCACCCTCACCCCGGGTCCAGCCTCGAACTCTCCTGCTGCATGGGG ACCCCGCCCCACAACCCCCACACCCTCACCCCGGGTCTAGCCTCGACCTC TCTTGCTGCGCTCGGAGCCCCCCCACCCCCTGCACCCTCACCCCGGGTCC AGCCTCGACCTCTCCTGCTGCATGGGGACCCCGCCC	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHCHD6_chr3_126699240_126965420	126783743	T T	TCAGAGGC others(309): Show TCAGAGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAATC TCCGCCACCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCT GGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCTCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02257.hp2 others(1): Show HG02055.hp2 HG02109.hp2 HG02257.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 others(1): Show a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0215	4	216	0.0185	316	c.411 others(335): Show c.411+50534_411+50535insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACT CACTGCAATCTCCGCCACCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGTGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTG TATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCTCGTCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCCAGAGGCCTTTTT	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	259090	T T	TGCATGTC others(309): Show TGCATGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAG CTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTACC TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACAGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03453.hp2 HG03041.hp2 HG03453.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0019c0022 a0001c0001 a0019c0022	a0001c0001t0013 a0019c0022t0032 a0001c0001t0013 a0019c0022t0032	a0001c0001t0013g0241 a0019c0022t0032g0240 a0001c0001t0013g0241 a0019c0022t0032g0240	2	290	0.0069	316	c.-95 others(335): Show c.-95+14413_-95+14414insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTC ACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTACCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACAGCGCCCGGCCGCATGTCTTTTTTTT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHMP7_chr8_23238637_23266999	23241727	A A	ATTTTTTT others(309): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02818.hp2 HG03225.hp1 others(1): Show HG02809.hp2 HG02818.hp2 HG03225.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0013 a0001c0003t0001g0013	4	438	0.0091	316	c.-25 others(327): Show c.-2558_-2557insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTGAAT	CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding		1909		chr8	TogoVar
CLCN3_chr4_169615578_169728673	169667680	T T	TAAAAATA others(309): Show TAAAAATACAGGATTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(18): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00733.hp2 HG01109.hp2 HG01255.hp1 HG02040.hp2 HG02257.hp2 HG02559.hp2 HG02602.hp1 HG02683.hp1 HG02735.hp2 HG02738.hp2 HG03490.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp1 NA19058.hp2 NA19068.hp1 NA19084.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 others(7): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0001t0027 a0001c0001t0028 a0001c0001t0047 a0001c0001t0048	a0001c0001t0007g0103 a0001c0001t0007g0212 a0001c0001t0007g0213 others(18): Show a0001c0001t0007g0103 a0001c0001t0007g0212 a0001c0001t0007g0213 a0001c0001t0007g0214 a0001c0001t0007g0215 a0001c0001t0007g0217 a0001c0001t0007g0227 a0001c0001t0007g0235 a0001c0001t0010g0209 a0001c0001t0010g0216 a0001c0001t0010g0224 a0001c0001t0013g0008 a0001c0001t0014g0234 a0001c0001t0016g0211 a0001c0001t0016g0219 a0001c0001t0021g0008 a0001c0001t0021g0228 a0001c0001t0027g0223 a0001c0001t0028g0221 a0001c0001t0047g0210 a0001c0001t0048g0225	21	288	0.0729	316	c.161 others(335): Show c.161-12352_161-12351insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAATACAGGATTTTTG	CLCN3	ENSG00000109572.16	transcript	ENST00000513761.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CLCN3_chr4_169615578_169728673	169667680	T T	TAAAAATA others(309): Show TAAAAATACAGGATTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01168.hp2 HG01243.hp1 others(5): Show HG00738.hp1 HG01168.hp2 HG01243.hp1 HG01433.hp2 HG01517.hp2 HG02698.hp2 HG03491.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 others(1): Show a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0044	a0001c0001t0010g0236 a0001c0001t0010g0238 a0001c0001t0013g0233 others(5): Show a0001c0001t0010g0236 a0001c0001t0010g0238 a0001c0001t0013g0233 a0001c0001t0013g0237 a0001c0001t0013g0261 a0001c0001t0014g0230 a0001c0001t0014g0231 a0001c0001t0044g0232	8	288	0.0278	316	c.161 others(335): Show c.161-12352_161-12351insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAATACAGGATTTTTG	CLCN3	ENSG00000109572.16	transcript	ENST00000513761.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CLDN17_chr21_30160565_30171805	30164704	T T	TAAATACA others(309): Show TAAATACATTTTTATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAGCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA ATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0005 a0007c0009t0005	a0007c0009t0005g0000 a0007c0009t0005g0000	1	436	0.0023	316	c.12 others(327): Show c.1238_*1239insTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGCTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCAATAAAAATGTATTT	CLDN17	ENSG00000156282.5	transcript	ENST00000286808.5	protein_coding		860		chr21	TogoVar
CLEC16A_chr16_10939564_11187186	10992535	T T	TAAAAAAT others(309): Show TAAAAAATAAAAAAGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAATA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	274	0.0037	316	c.107 others(335): Show c.1071+9560_1071+9561insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGCGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAATAAAAAAATAAAAAAGAA	CLEC16A	ENSG00000038532.17	transcript	ENST00000409790.6	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLIC2_chrX_155271211_155339614	155282327	T T	TAGCAGGA others(309): Show TAGCAGGACAGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	258	0.0039	316	c.294 others(333): Show c.294-2260_294-2259insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGA GCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAACTGTCCTGCT	CLIC2	ENSG00000155962.13	transcript	ENST00000369449.7	protein_coding	3/5			chrX	TogoVar
CLTCL1_chr22_19174473_19296719	19251180	T T	TTGCACTT others(309): Show TTGCACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0139 a0011c0015t0001g0139	1	346	0.0029	316	c.519 others(333): Show c.519+2778_519+2779insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGCCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTGCA	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	3/32			chr22	TogoVar
CLUAP1_chr16_3496004_3544048	3532586	T T	TAAAAAAA others(309): Show TAAAAAAATTTCTGTAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA ATTAGCCGGGCGTAGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02602.hp1 HG02622.hp2 others(8): Show HG02486.hp1 HG02602.hp1 HG02622.hp2 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0005c0006 a0001c0004 a0005c0006	a0001c0004t0007 a0005c0006t0007 a0005c0006t0013 a0001c0004t0007 a0005c0006t0007 a0005c0006t0013	a0001c0004t0007g0007 a0001c0004t0007g0011 a0005c0006t0007g0051 others(5): Show a0001c0004t0007g0007 a0001c0004t0007g0011 a0005c0006t0007g0051 a0005c0006t0007g0052 a0005c0006t0007g0053 a0005c0006t0013g0048 a0005c0006t0013g0049 a0005c0006t0013g0050	11	382	0.0288	316	c.103 others(333): Show c.1037-183_1037-182insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAATTTCTGTAGA	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMSS1_chr3_99812862_100186732	99936540	T T	TAATTTTT others(309): Show TAATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	232	0.0043	316	c.64+ others(335): Show c.64+118512_64+118513insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAATTTTTGTATTTTT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99936540	T T	TAATTTTT others(309): Show TAATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	232	0.0043	316	c.64+ others(335): Show c.64+118512_64+118513insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAATTTTTGTATTTTT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT8_chr5_154853627_154881792	154880915	T T	TAGAAACA others(309): Show TAGAAACAAAACCTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAA AAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	342	0.0029	316	c.54 others(327): Show c.5476_*5477insAGAAACAAAACCTTTGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAAGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGC AAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	CNOT8	ENSG00000155508.14	transcript	ENST00000285896.11	protein_coding		4124		chr5	TogoVar
CNTLN_chr9_17130040_17508923	17392869	T T	TACATCTT others(309): Show TACATCTTCACTATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0002 a0011c0015t0002	a0011c0015t0002g0213 a0011c0015t0002g0214 a0011c0015t0002g0215 a0011c0015t0002g0213 a0011c0015t0002g0214 a0011c0015t0002g0215	3	218	0.0138	316	c.208 others(335): Show c.2080-1651_2080-1650insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCACATCTTCACTATT	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	14/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL21A1_chr6_56051590_56252580	56098422	A A	AATATATA others(309): Show AATATATATAAATATATATATAAATATATATAAATATATAAATATATATA AATATATATATAAATATATATAAATATATAAATATATATGTAAATATATA AATATATATAAATATATATATAAATATATATATAAATATATATAAATATA TAAATATATATAAATACATATGTAAATATATAAATATATATAAATATATA AATATATATAGATATATATAAATATATACAAATATATATAGATATATATA TAAATATATATAAATATATATAGATATATATATAAATATATATAAATATA TATAGATATATATAAAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0195 a0001c0002t0002g0196	2	264	0.0076	316	c.181 others(335): Show c.1812+3049_1812+3050insATTTATATATATCTATATATATTTAT ATATATTTATATATATATCTATATATATTTATATATATTTATATATATAT CTATATATATTTGTATATATTTATATATATCTATATATATTTATATATTT ATATATATTTATATATTTACATATGTATTTATATATATTTATATATTTAT ATATATTTATATATATATTTATATATATATTTATATATATTTATATATTT ACATATATATTTATATATTTATATATATTTATATATATATTTATATATAT TTATATATTTATATATATTTATATATATATTTATATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098440	A A	AATATATA others(309): Show AATATATAAATATATATATAAATATATATAAATATATAAATATATATATA AATATATATAAATATATAAATATATATATAAATATATATAAATATATAAA TATATATGTAAATATATAAATATATAAATATATATGTAAATATATAAATA TATATAAATATATATATAAATATATATAAATATATAAATATATATAAATA CATATGTAAATATATAAATATATATAAATATATAAATATATATAGATATA TATGTAAATATATATAAATATATAAATATATAGATATATATGTAAATATA TATAAATATATATAGAT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18979.hp1 NA18975.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0216 a0001c0001t0001g0192 a0001c0001t0001g0216	2	264	0.0076	316	c.181 others(335): Show c.1812+3031_1812+3032insATCTATATATATTTATATATATTTAC ATATATATCTATATATTTATATATTTATATATATTTACATATATATCTAT ATATATTTATATATTTATATATATTTATATATTTACATATGTATTTATAT ATATTTATATATTTATATATATTTATATATATATTTATATATATTTATAT ATTTACATATATATTTATATATTTATATATTTACATATATATTTATATAT TTATATATATTTATATATATATTTATATATTTATATATATTTATATATAT ATTTATATATTTATATATATTTATATATATATTTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL3A1_chr2_188969373_189017746	188989142	T T	TATTCCTA others(309): Show TATTCCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGC TAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	376	0.0027	316	c.637 others(331): Show c.637-247_637-246insGGCCGGGCGCGGTGGCTCACGCCTGTAATC TCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTCCTA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	7/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203319	A A	ACACATAT others(309): Show ACACATATATGTGTGTATATGTGTATATACACATACACATATATGTGTGT ATATGTGTATATACACATACACATATATGTGTGTATATGTGTATATACAC ATACACATATATGTGTGTATATGTGTATATACACATACACATATATGTGT GTATATGTGTATATACACATACACATATATGTGTGTATATGTGTATATAC ACATACACATATATGTGTGTATATGTGTATATACACATACACATATATGT GTGTATATGTGTATATACACATACACATATATGTGTATGTGTATATACAC ATACACATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0006 a0006c0010t0006	a0006c0010t0006g0072 a0006c0010t0006g0072	1	344	0.0029	316	c.88- others(333): Show c.88-34649_88-34648insCACATATATGTGTGTATATGTGTATATA CACATACACATATATGTGTGTATATGTGTATATACACATACACATATATG TGTGTATATGTGTATATACACATACACATATATGTGTGTATATGTGTATA TACACATACACATATATGTGTGTATATGTGTATATACACATACACATATA TGTGTGTATATGTGTATATACACATACACATATATGTGTGTATATGTGTA TATACACATACACATATATGTGTGTATATGTGTATATACACATACACATA TATGTGTATGTGTATATACACATACACATATATGTGTG	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9970419	G G	GCTGTGGG others(309): Show GCTGTGGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGGCTGTGGGGTAAGC GGGGTCTGTGGGGTGAGTGGGGGCTGTAAGGTGAGTGGGGTCTGTGGGTG AGTGGGGTCTGTGGTTGACTGGGTGCTGTGGGGTGAGTGGGGTCTGTAGG TGAGTGGGGTCTGTGGGTGAGTGTGTTCTGTGGCTGAGTGGGGTCTGTGG GGTAAGCGGGGGCTGTGGGGTGAGTGGGGTCTGTGGGTGAGTGGGGTCTG TGGTTGACTGGGGTCTGTGGGGTGAGTGGAATCTGTGGGTGAGTGGGGTC TGTGGGGTAAGCGGGGA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA19056.hp1 NA19084.hp1 others(1): Show NA18978.hp1 NA19056.hp1 NA19084.hp1 NA19091.hp1	a0003 a0012 a0036 a0003 a0012 a0036	a0003c0009 a0012c0025 a0036c0102 a0003c0009 a0012c0025 a0036c0102	a0003c0009t0003 a0012c0025t0001 a0036c0102t0003 a0003c0009t0003 a0012c0025t0001 a0036c0102t0003	a0003c0009t0003g0307 a0003c0009t0003g0349 a0012c0025t0001g0347 others(1): Show a0003c0009t0003g0307 a0003c0009t0003g0349 a0012c0025t0001g0347 a0036c0102t0003g0226	4	412	0.0097	316	c.393 others(333): Show c.3936+202_3936+203insTCCCCGCTTACCCCACAGACCCCACTCA CCCACAGATTCCACTCACCCCACAGACCCCAGTCAACCACAGACCCCACT CACCCACAGACCCCACTCACCCCACAGCCCCCGCTTACCCCACAGACCCC ACTCAGCCACAGAACACACTCACCCACAGACCCCACTCACCTACAGACCC CACTCACCCCACAGCACCCAGTCAACCACAGACCCCACTCACCCACAGAC CCCACTCACCTTACAGCCCCCACTCACCCCACAGACCCCGCTTACCCCAC AGCCCCCACTCACCCCACAGACCCCACTCACCCCACAG	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
CPB2_chr13_46048186_46110033	46073597	T T	TCAATGTA others(309): Show TCAATGTACTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCTCACTGCAAG CTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGGCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp1 HG00673.hp2 others(39): Show HG00609.hp2 HG00639.hp1 HG00673.hp2 HG01109.hp1 HG01257.hp1 HG01496.hp2 HG01934.hp1 HG01952.hp1 HG01993.hp2 HG02015.hp2 HG02055.hp1 HG02080.hp2 HG02129.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02559.hp1 HG02615.hp2 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG03098.hp2 HG03471.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp2 NA18906.hp2 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18957.hp2 NA18972.hp2 NA18982.hp1 NA18992.hp1 NA19005.hp2 NA19012.hp2 NA19043.hp1 NA19056.hp2 NA19074.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0019 a0002c0002t0001g0040 a0002c0002t0001g0047 others(31): Show a0002c0002t0001g0019 a0002c0002t0001g0040 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0090 a0002c0002t0001g0108 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0258 a0002c0002t0002g0002 a0002c0002t0002g0018 a0002c0002t0002g0022 a0002c0002t0002g0092 a0002c0002t0002g0098 a0002c0002t0002g0107 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0119 a0002c0002t0002g0128 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0187 a0002c0002t0002g0223 a0002c0002t0002g0256 a0002c0002t0002g0259 a0002c0002t0002g0261	42	330	0.1273	316	c.591 others(331): Show c.591+275_591+276insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAGAAATAGTACATTG	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding	6/10			chr13	TogoVar
CPPED1_chr16_12654799_12808887	12666129	T T	TAAAAATA others(309): Show TAAAAATAATGTTTATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02257.hp2 HG01884.hp1 HG01891.hp1 HG02257.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0013 a0004c0004t0013	a0004c0004t0013g0063 a0004c0004t0013g0085 a0004c0004t0013g0091 a0004c0004t0013g0063 a0004c0004t0013g0085 a0004c0004t0013g0091	3	290	0.0103	316	c.716 others(333): Show c.716-1015_716-1014insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCCATAAACATTATTTTT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	3/3			chr16	TogoVar
CRTC3_chr15_90524923_90650345	90643637	T T	TAAAATAG others(309): Show TAAAATAGATGGGCCAGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0021 a0008c0012t0021	a0008c0012t0021g0029 a0008c0012t0021g0029	1	276	0.0036	316	c.15 others(327): Show c.1513_*1514insGCCGGGCGCGGTGGCTCACGCTTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAATAGATGGGCCAG	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding	15/15	1514	INFO_REALIGN_3_PRIME	chr15	TogoVar
CSF2RA_chrX_1263814_1314935	1307601	T T	TTTCGACT others(309): Show TTTCGACTGATTAGATGAGGCCCACCCTCCCCTTTATACCTTCGACTGAT TAGATGAGGCCCACCCTCCCCTTTATACCTTCGACTGATTAGATGAGGCC CACCCTCCCCTTTATACCTTCGACTGATTAGATGAGGCCCACCCTCCCCT TTATACCTTCGACTGATTAGATGAAGCCCACCATTCTCCTTTATACCTTC GACTGATTAGATGAAGCCCACGCTTCTCCTTTGGACCTTCAACTGATTAG ATGAGGCCCACCTTTCCCCCTTCAGCCTTTCGACTGATTAGATGAGGCCC ACCCTCCCCTTTATACC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01192.hp2 HG01952.hp2 others(3): Show HG01081.hp1 HG01192.hp2 HG01952.hp2 HG01993.hp1 HG02717.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0018 others(2): Show a0001c0001 a0001c0002 a0001c0018 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0018t0003 a0002c0003t0005 a0002c0004t0003	a0001c0001t0001g0115 a0001c0001t0003g0041 a0001c0002t0002g0112 others(3): Show a0001c0001t0001g0115 a0001c0001t0003g0041 a0001c0002t0002g0112 a0001c0018t0003g0107 a0002c0003t0005g0146 a0002c0004t0003g0109	6	159	0.0377	316	c.112 others(335): Show c.1126-1662_1126-1661insACCCTCCCCTTTATACCTTCGACTGA TTAGATGAAGCCCACCATTCTCCTTTATACCTTCGACTGATTAGATGAAG CCCACGCTTCTCCTTTGGACCTTCAACTGATTAGATGAGGCCCACCTTTC CCCCTTCAGCCTTTCGACTGATTAGATGAGGCCCACCCTCCCCTTTATAC CTTCGACTGATTAGATGAGGCCCACCCTCCCCTTTATACCTTCGACTGAT TAGATGAGGCCCACCCTCCCCTTTATACCTTCGACTGATTAGATGAGGCC CACCCTCCCCTTTATACCTTCGACTGATTAGATGAGGCCC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1307601	T T	TTTCGACT others(309): Show TTTCGACTGATTAGATGAGGCCCACCCTCCCCTTTATACCTTCGACTGAT TAGATGAGGCCCACCCTCCCCTTTATACCTTCGACTGATTAGATGAGGCC CACCCTCCCCTTTATACCTTCGACTGATTAGATGAGGCCCACCCTCCCCT TTATACCTTCGACTGATTAGATGAGGCCCACCATTCTCCTTTATACCTTC GACTGATTAGATGAAGCCCACGCTTCTCCTTTGGACCTTCAACTGATTAG ATGAGGCCCACCTTTCCCCCTTCAGCCTTTCGACTGATTAGATGAGGCCC ACCCTCCCCTTTATACC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG02976.hp2 others(2): Show HG02145.hp1 HG02559.hp1 HG02976.hp2 HG03098.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0006 a0001c0005 a0002c0006	a0001c0005t0005 a0001c0005t0011 a0002c0006t0003 others(1): Show a0001c0005t0005 a0001c0005t0011 a0002c0006t0003 a0002c0006t0005	a0001c0005t0005g0009 a0001c0005t0005g0136 a0001c0005t0011g0091 others(2): Show a0001c0005t0005g0009 a0001c0005t0005g0136 a0001c0005t0011g0091 a0002c0006t0003g0156 a0002c0006t0005g0028	5	159	0.0315	316	c.112 others(335): Show c.1126-1662_1126-1661insACCCTCCCCTTTATACCTTCGACTGA TTAGATGAGGCCCACCATTCTCCTTTATACCTTCGACTGATTAGATGAAG CCCACGCTTCTCCTTTGGACCTTCAACTGATTAGATGAGGCCCACCTTTC CCCCTTCAGCCTTTCGACTGATTAGATGAGGCCCACCCTCCCCTTTATAC CTTCGACTGATTAGATGAGGCCCACCCTCCCCTTTATACCTTCGACTGAT TAGATGAGGCCCACCCTCCCCTTTATACCTTCGACTGATTAGATGAGGCC CACCCTCCCCTTTATACCTTCGACTGATTAGATGAGGCCC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112449372	G G	GCCAGACA others(309): Show GCCAGACACGTTATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00609.hp1 others(76): Show HG00438.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01081.hp1 HG01123.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01978.hp1 HG02015.hp2 HG02080.hp1 HG02132.hp1 HG02148.hp1 HG02273.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG03017.hp2 HG03490.hp2 HG03491.hp2 HG03710.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18945.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18980.hp2 NA18983.hp1 NA18988.hp2 NA18993.hp1 NA18994.hp2 NA18999.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19055.hp1 NA19058.hp2 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0014 a0001c0002 a0006c0014	a0001c0002t0002 a0001c0002t0021 a0001c0002t0022 others(3): Show a0001c0002t0002 a0001c0002t0021 a0001c0002t0022 a0001c0002t0024 a0001c0002t0025 a0006c0014t0002	a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0004 others(72): Show a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0010 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0079 a0001c0002t0002g0081 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0104 a0001c0002t0002g0106 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0157 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0021g0003 a0001c0002t0022g0078 a0001c0002t0024g0109 a0001c0002t0025g0067 a0006c0014t0002g0103	79	324	0.2438	316	c.330 others(331): Show c.330+215_330+216insTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCCAGACACGTTATTT	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112449372	G G	GCCAGACA others(309): Show GCCAGACACGTTATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0107 a0001c0002t0002g0107	1	324	0.0031	316	c.330 others(331): Show c.330+215_330+216insTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCCAGACACGTTATTT	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112449372	G G	GCCAGACA others(309): Show GCCAGACACGTTATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0297 a0001c0005t0008g0297	1	324	0.0031	316	c.330 others(331): Show c.330+215_330+216insTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCCAGACACGTTATTT	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112449372	G G	GCCAGACA others(309): Show GCCAGACACGTTATTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0122 a0001c0002t0002g0122	1	324	0.0031	316	c.330 others(331): Show c.330+215_330+216insTTTTTTTTTTTTTTTTTTTTTGAGGCGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCCAGACACGTTATTT	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CUL4A_chr13_113204613_113272108	113232186	G G	GTCACCAC others(309): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	396	0.0025	316	c.513 others(331): Show c.513-991_513-990insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CXorf51A_chrX_146809106_146819744	146816232	C C	CCTATATA others(309): Show CCTATATAATTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	264	0.0038	316	c.-15 others(327): Show c.-1510_-1509insTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAATAAAATTATATAG	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1489		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146808267	T T	TAATAAAA others(309): Show TAATAAAATTATATAGTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	316	c.-15 others(327): Show c.-1525_-1524insAATAAAATTATATAGTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1503		chrX	TogoVar
CYLC1_chrX_83856146_83891698	83878350	A A	AATATATA others(309): Show AATATATATATAAATATATATAAATATATATAAATATATAAATATATATA TAAATATATATAAATATATATAAATATATAAATATATATATAAATATATA TAAATATATATAAATATATATAAATATATATAAATATATATAAATATATA TATAAATATATATATAAATATATATATAAATATATAAATATATATAAATA TATAAATATATATAAATATATAAATATATATATATAAATATATAAATATA TATAAATATATAAATATATATATATAAATATATAAATATATATAAATATA TATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	208	0.0048	316	c.192 others(335): Show c.1923+3728_1923+3729insTAAATATATATAAATATATATAAATA TATAAATATATATATAAATATATATAAATATATATAAATATATAAATATA TATATAAATATATATAAATATATATAAATATATATAAATATATATAAATA TATATAAATATATATATAAATATATATATAAATATATATATAAATATATA AATATATATAAATATATAAATATATATAAATATATAAATATATATATATA AATATATAAATATATATAAATATATAAATATATATATATAAATATATAAA TATATATAAATATATATAAATATATATAAATATATATATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYP2W1_chr7_978181_994640	990285	C C	CAGTGGCG others(309): Show CAGTGGCGCGTGTGCTGGGGGCGGTGTGGTCGGCAGTGTGAGTGGCGCGT GTGCTGGGGGCGGTGTGGTCGGCAGTGTGAGGGGCGCGTGTGCTGGGGGC GGTGTGGTCGGCAGTGTGAGTGGCGCGTGTGCTGGGGGCGGTGTGGTCGG CAGTGTGACAGTGGTGCGTGTGCTGGGGGCGGTGTGGTCGGCAGTGTGAC AGTGGCGCGTGTGCTGGGGGCGGTGTGGTCGGCAGTGTGAGTGGCGCGTG TGCTGGGGGCGGTGTGGTCGGCAGTGTGAGGGGCGCGTGTGCTGGGGGCG GTGTGGTCGGCAGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02280.hp2 HG02717.hp1 others(5): Show HG02015.hp2 HG02280.hp2 HG02717.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0007 a0001c0002t0001 a0001c0002t0007	a0001c0002t0001g0007 a0001c0002t0001g0047 a0001c0002t0007g0007 a0001c0002t0001g0007 a0001c0002t0001g0047 a0001c0002t0007g0007	8	408	0.0196	316	c.14 others(327): Show c.1463_*1464insAGTGGCGCGTGTGCTGGGGGCGGTGTGGTCGGCA GTGTGAGTGGCGCGTGTGCTGGGGGCGGTGTGGTCGGCAGTGTGAGGGGC GCGTGTGCTGGGGGCGGTGTGGTCGGCAGTGTGAGTGGCGCGTGTGCTGG GGGCGGTGTGGTCGGCAGTGTGACAGTGGTGCGTGTGCTGGGGGCGGTGT GGTCGGCAGTGTGACAGTGGCGCGTGTGCTGGGGGCGGTGTGGTCGGCAG TGTGAGTGGCGCGTGTGCTGGGGGCGGTGTGGTCGGCAGTGTGAGGGGCG CGTGTGCTGGGGGCGGTGTGGTCGGCAGTGTG	CYP2W1	ENSG00000073067.14	transcript	ENST00000308919.12	protein_coding		646		chr7	TogoVar
CYP4F11_chr19_15907377_15939529	15933771	A A	AGTGAGTG others(309): Show AGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAG CGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGG AGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAG CGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGG AGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAG CGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGG AGTGAGTGAGCGGGGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02976.hp1 HG01891.hp1 HG02976.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0105 a0001c0005t0007 a0001c0005t0105	a0001c0005t0007g0068 a0001c0005t0105g0067 a0001c0005t0007g0068 a0001c0005t0105g0067	2	386	0.0052	316	c.198 others(331): Show c.198+439_198+440insCTCCCCGCTCACTCACTCCTCTCCCCGCTC ACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCT CTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTC ACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCT CTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTC ACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCT CTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCAC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar

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