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
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(511): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCGTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTTACCTACCCATT AATTCACCCACCCTTCCACCACCCACCCACCCATCCATATACCCACCCAC CCATTCACCCATCCATTCATCCATCCACCCACCCACCCATTCACCCACCC ACCCAGCCATCTCACCCATTCACCCATCCACTCATCCATTCACCTATCCA CCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0075 a0002c0002t0075	a0002c0002t0075g0154 a0002c0002t0075g0154	1	262	0.0038	518	c.775 others(533): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGGATGGATGAATGGATGGGTGGATGGAT GAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGGTGGGTGGATGGATGAGTGGACGGGTGAATTGAT GGGTGGGTGGGTATATGGATGGGTGGGTGGGTGGGTGGTGGAACGGTGGG TGAATGGATGGGTTGATAAATGGGTGGGCGAATGGATGGGTGGATGGATG AGTGGATGGTGAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(511): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CGTATACGTATACACACATATACGTATACGTATACACACATATACACGTA TACGTATACACACATATACACGTATACGTATACACACATATACACGTATA CGTATACGTGTACACACATATACACGTATATACGTATACGTGTACACACA TATACACGTATATACGTATACGTGTACACACATATACACGTATATACGTA TACGTGTACACACATATATATACACGTATATATACGTATACGTGTACACA CACACACGTATATATACGTATACGTGTACACACACACGTATATATACGTA TACGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTA TATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACA CACACACGTATATATACGTATACGTGTACACACACACGTATATACGTATA CGTGTACACACACACACGT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18986.hp1 NA18961.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0073 a0001c0001t0004 a0001c0001t0073	a0001c0001t0004g0045 a0001c0001t0073g0074 a0001c0001t0004g0045 a0001c0001t0073g0074	2	169	0.0118	518	c.48- others(535): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACGTATACGTATACACACATATACGTATACGTATACACACATAT ACACGTATACGTATACACACATATACACGTATACGTATACACACATATAC ACGTATACGTATACGTGTACACACATATACACGTATATACGTATACGTGT ACACACATATACACGTATATACGTATACGTGTACACACATATACACGTAT ATACGTATACGTGTACACACATATATATACACGTATATATACGTATACGT GTACACACACACACGTATATATACGTATACGTGTACACACACACGTATAT ATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACAC ACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATAC GTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATAT ACGTATACGTGTACACACACACACGTATATACGTATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(511): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATACTATATATATTCTATATACAGAATATATATACTATATATA TTCTATATACAGAATATATATAGTATATATATTCTATATACAGAATATAT ATACTATATATATTCTATATACAGAATATATATACTATATATATTCTATA TACAGAATATATATACTATATATTCTATATACTATATATTCTATATATAC TATAGATATACTATATATAGTATATCTATATATAGATATATAGATATACT ATATTCTATATACTATATATATTCTGTATATAGAATATATATACTATATA TATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGAATAT ATATACTATATATATTCTG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	236	0.0042	518	c.409 others(537): Show c.409+15133_409+15134insCAGAATATATATAGTATATATATTCT ATATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAG TATATATATTCTATATACAGAATATATATAGTATATAGAATATAGTATAT CTATATATCTATATATAGATATACTATATATAGTATATCTATAGTATATA TAGAATATATAGTATATAGAATATATAGTATATATATTCTGTATATAGAA TATATATAGTATATATATTCTGTATATAGAATATATATAGTATATATATT CTGTATATAGAATATATATACTATATATATTCTGTATATAGAATATATAT AGTATATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATA TAGAATATATATACTATATATATTCTGTATATAGAATATATATACTATAT ATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGAATA TATATACTATATATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AHRR_chr5_316714_443285	344423	A A	ATGTGTGA others(511): Show ATGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTG TGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTG TGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGG GGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGT GTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTG TGTGGGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGT GTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGT GAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTG CGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGG GCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCT GTGTGTGTGTGGGTGTGTG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	268	0.0037	518	c.62+ others(531): Show c.62+724_62+725insAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGT GTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGT GTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTG TGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGG GGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAG CTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGG GGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTG GGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGT GAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGT GAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTG CGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	344714	G G	GGTGTGTG others(511): Show GGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTG GGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGA GGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGA GGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCG CGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGC TGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGCGCGCGGGGGGAGCTGT GTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTG TGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTG TGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGG CTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGGGTGTGTGTGTGTGAGGCT GTGGGGGGCTGTGTGTGGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0008 a0005c0005t0008	a0005c0005t0008g0108 a0005c0005t0008g0108	1	268	0.0037	518	c.62+ others(531): Show c.62+761_62+762insTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTG TGTGTGGGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGT GTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGT GTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTG TGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTG GGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGCGCGCGGGGGG AGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGT GGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTG TGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGT GTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGGGTGTGTGTGTGT GAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	344764	T T	TGTGTGTG others(511): Show TGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGA GGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGA GGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGAGGCTGTGTGTGCGCG GGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGTGAGGCTG TGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGT GTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTG TGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTG TGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCT GTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCT GTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGTGCTGG GGGAGCTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0259 a0001c0001t0003g0259	1	268	0.0037	518	c.62+ others(531): Show c.62+809_62+810insTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGT GTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGT GTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGAGGCTGTG TGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTG TGAGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGG AGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGT GGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTG TGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGT GTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGT GTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTG TGTGCTGGGGGAGCTGTGTGTGTGTGGGTGTGTGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	398159	G G	GTTAGCCC others(511): Show GTTAGCCCCTGACCATCCACGTAGCCCCTGACCATCCACGTAGCTCCTGA CCATCCACGTAGCTCCTGACCATCCATGTTAGCCCCTGACCATCCACGTA GCCCCTGACCATCCACGTAGCCCCTGACCATCCACGTAGCCCCTGACCAT CCACGTAGCTCCTGACCATCCATGTTAGCCCCTGACCATCCACGTAGCTC CTGACCATCCACGTAGCCCCTGACCGTCCACGTAGCTCCTGACCATCCAT GTTAGCCCCTGACCATCCACGTAGCTCCTGACCATCCACGTAGCCCCTGA CCATCCACGTAGCCCCTGACCATCCACGTAGCCCCTGACCATCCACGTAG CTCCTGACCATCCACGTAGCCCCTGACCATCCACGTAGCCCCTGACCATC CACGTAGCTCCTGACCATCCACGTAGCCCCTGACCATCCACGTAGCTCCT GACCATCCACGTAGCTCCTGACCATCCACGTAGCCCCTGACCATCCACGT AGCTCCTGACCATCCATGT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02965.hp1 HG03139.hp2 others(2): Show HG01261.hp1 HG02965.hp1 HG03139.hp2 HG03195.hp1 NA20129.hp1	a0001 a0004 a0012 a0001 a0004 a0012	a0001c0001 a0004c0003 a0012c0018 a0001c0001 a0004c0003 a0012c0018	a0001c0001t0001 a0001c0001t0017 a0004c0003t0009 others(1): Show a0001c0001t0001 a0001c0001t0017 a0004c0003t0009 a0012c0018t0017	a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0017g0264 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0017g0264 a0004c0003t0009g0224 a0012c0018t0017g0265	5	268	0.0187	518	c.352 others(537): Show c.352-15184_352-15183insTAGCCCCTGACCATCCACGTAGCCCC TGACCATCCACGTAGCTCCTGACCATCCACGTAGCTCCTGACCATCCATG TTAGCCCCTGACCATCCACGTAGCCCCTGACCATCCACGTAGCCCCTGAC CATCCACGTAGCCCCTGACCATCCACGTAGCTCCTGACCATCCATGTTAG CCCCTGACCATCCACGTAGCTCCTGACCATCCACGTAGCCCCTGACCGTC CACGTAGCTCCTGACCATCCATGTTAGCCCCTGACCATCCACGTAGCTCC TGACCATCCACGTAGCCCCTGACCATCCACGTAGCCCCTGACCATCCACG TAGCCCCTGACCATCCACGTAGCTCCTGACCATCCACGTAGCCCCTGACC ATCCACGTAGCCCCTGACCATCCACGTAGCTCCTGACCATCCACGTAGCC CCTGACCATCCACGTAGCTCCTGACCATCCACGTAGCTCCTGACCATCCA CGTAGCCCCTGACCATCCACGTAGCTCCTGACCATCCATGTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGAP19_chr10_97217179_97297637	97251429	G G	GGGGGAAG others(511): Show GGGGGAAGGGGAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGAGAAGAGAA GGGGGGAAGGGGAAGGGGAAGGGAAGGGGAAAGGAAGGAAGGGGGAGGGG AAGGGAAGGGGAAGGAAGGGAGAAGAGGAAGGGGAAGGGGAAGGGAAGGG AAAGGGAAGGAGAAAGGAAGGGAAGGGAAGGGAAGGGGAAGAGGAAGGGG AAGGGAAAGGAAGGAGAGAGGAGGGAAGGGGGAAGGGAAGGGGAAGGAAA GGGAAAGGAGAGAGGGGAGGGAAGGGAAGGGAAGGGAAAGAGGAAGAAGG GGAAGGAAGGGAATGGAAAGAAGGGGAAGGGGAAGGGAGAGAGGGAAGGG GGAGGGAAGGGGGGAGGGGAAGGGGAGGGGAAGGGGGAGGGGAAAGGGGA GGGAGGGAAGGGGGAGGGGGGGAGGGGAGGGGGAGGGGGAGGGGGGAAGG GGAAAGGAAGGGGAAGGGGGAGGGAAAGGAAAGGGGAATGGAAGGGAAGG GAAAGGAAGGGGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0037 a0001c0002t0002g0037	1	242	0.0041	518	c.927 others(535): Show c.927+4888_927+4889insTTCCTTCCCCCTTCCTTTCCCTTCCCTT CCATTCCCCTTTCCTTTCCCTCCCCCTTCCCCTTCCTTTCCCCTTCCCCC CTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCCTTCCCTCCCTCCCCTTTC CCCTCCCCCTTCCCCTCCCCTTCCCCTCCCCCCTTCCCTCCCCCTTCCCT CTCTCCCTTCCCCTTCCCCTTCTTTCCATTCCCTTCCTTCCCCTTCTTCC TCTTTCCCTTCCCTTCCCTTCCCTCCCCTCTCTCCTTTCCCTTTCCTTCC CCTTCCCTTCCCCCTTCCCTCCTCTCTCCTTCCTTTCCCTTCCCCTTCCT CTTCCCCTTCCCTTCCCTTCCCTTCCTTTCTCCTTCCCTTTCCCTTCCCT TCCCCTTCCCCTTCCTCTTCTCCCTTCCTTCCCCTTCCCTTCCCCTCCCC CTTCCTTCCTTTCCCCTTCCCTTCCCCTTCCCCTTCCCCCCTTCTCTTCT CCTTCCCTTTCCCTTCCCCTTCCCTTCCCTCCCCTTCCCC	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ASB5_chr4_176208673_176274222	176218253	T T	TATATATA others(511): Show TATATATATTTGTATGATATATATATTTGTATGATATATAAATATATATA TTTGTATGATATATAAATATACATGTATGATATATAAATATATATTTGTA TGATATATAAATATATATATATTTGTATGATATATAAATATATATATATT TGTATGATATATATATTTGTATGATATATAAATATATATTTGTATGACAT ATAAATATATATTTGTATGACATATAAATATATATATTTGTATGACATAT AAATATATATATTTGTATGACATATAAATATATATGTATGATATATAAAT ATATATTTGTATGATATATAAATATATATATTTGTATGATATATAAATAT ATATATTTGTATGATATATAAATATATATATTTGTATGATATATAAATAT ATATATTTGTATGATATATAAATATATATATTTGTATGATATATAAATAT ATATATGTATGATATATAAATATATATATTTGTATGATATATAAATATAT ATATTTGTATGATATATAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0034 a0003c0007t0001g0034	1	410	0.0024	518	c.671 others(535): Show c.671-1245_671-1244insTTATATATCATACAAATATATATATTTA TATATCATACAAATATATATATTTATATATCATACATATATATATTTATA TATCATACAAATATATATATTTATATATCATACAAATATATATATTTATA TATCATACAAATATATATATTTATATATCATACAAATATATATATTTATA TATCATACAAATATATATATTTATATATCATACAAATATATATTTATATA TCATACATATATATTTATATGTCATACAAATATATATATTTATATGTCAT ACAAATATATATATTTATATGTCATACAAATATATATTTATATGTCATAC AAATATATATTTATATATCATACAAATATATATATCATACAAATATATAT ATATTTATATATCATACAAATATATATATATTTATATATCATACAAATAT ATATTTATATATCATACATGTATATTTATATATCATACAAATATATATAT TTATATATCATACAAATATATATATCATACAAATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
BFSP2_chr3_133395056_133480208	133425959	G G	GGGGGGAG others(511): Show GGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGATGG GAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGA GGGGAGGGGATGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGATGGGGAGGGGAGGGGAGG GGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGAGAGGGAGGGGATGGGGAG GGGAGGGGGAGGGGGGAGGGGAAGGGGGAGGGGAGGGGAGGGGGAGGGGG AGGGGGAGGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	276	0.0036	518	c.490 others(537): Show c.490-21354_490-21353insGAGGGGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGG GGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG ATGGGGAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGG AGAGGGAGGGGATGGGGAGGGGAGGGGGAGGGGGGAGGGGAAGGGGGAGG GGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGAGGGG	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
C2CD4C_chr19_400445_414147	410786	C C	CCTGCTGG others(511): Show CCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCG GATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTC TGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGCCCC TGCTGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGA TCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTG TCCACCGTCTCTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGTCACTG CTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATC CTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTC CACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCT GGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCT GGGGGTCTGTCCACCGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0004 a0001c0004t0004g0004	1	322	0.0031	518	c.-18 others(529): Show c.-1822_-1821insAGACGGTGGACAGACCCCCAGGATCCGTGCCCAG CAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGA CAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGA TCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCA GGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACA GATCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATC CGGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGG GGCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGA TCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCG GGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGA CGGTGGACAGACCCCCAGGATCCGGGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1640		chr19	TogoVar
C2CD4C_chr19_400445_414147	410797	C C	CGGATCCT others(511): Show CGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGG TCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCC CCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCG GATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTC TGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCC TGCTGGGAACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGA TCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTG TCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTG CTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGATC CTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTC CACCGCCCCTGCTGGGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0026 a0001c0002t0019g0026	1	322	0.0031	518	c.-18 others(529): Show c.-1833_-1832insAGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGA TCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCA GTGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACA GACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATC CGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGG GGCGGTGGACAGACCCCCAGGATCCGTTCCCAGCAGGGGCGGTGGACAGA CCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCG GGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGA CGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACC CCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGG CCCAGCAGAGACGGTGGACAGACCCCCAGGATCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1651		chr19	TogoVar
C2CD4C_chr19_400445_414147	411092	A A	ACGGATCC others(511): Show ACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGG GTCTGTCCACTGCCCCTGCTGGGAACGGATCCTGGGGGTCTGTCCACCGC CCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCC GGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGT CTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCT CTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGTCTCTGCTGGGCCCGG ATCCTTGGGGTCTGTCCACCACCCCTGCTGGGCACGGATCCTGGGGGTCT GTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCT GCTGGGCCCGGATCCTTGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGAT CCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGT CCACCGTCTCTGCTGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0004 a0001c0004t0004g0004	1	322	0.0031	518	c.-21 others(529): Show c.-2128_-2127insGGCCCAGCAGAGACGGTGGACAGACCCCCAGGAT CCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAG AGACGGTGGACAGACCCCAAGGATCCGGGCCCAGCAGAGACGGTGGACAG ACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCC GTGCCCAGCAGGGGTGGTGGACAGACCCCAAGGATCCGGGCCCAGCAGAG ACGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGAC CCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGG GCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGC GGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCC CCAGGATCCGTTCCCAGCAGGGGCAGTGGACAGACCCCCAGGATCCGTGC CCAGCAGGGGCGGTGGACAGACCCCCAGGATCCG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1946		chr19	TogoVar
CACNA1B_chr9_137872782_138129619	138017897	T T	TCAGGTGC others(511): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGATGGAAGTGGC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0019 a0002c0004t0001g0019	1	248	0.0040	518	c.226 others(537): Show c.2267+4735_2267+4736insTCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGA AGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CAPN11_chr6_44153820_44189401	44182049	A A	ACACACAC others(511): Show ACACACACACATACAGACACAACCACACCACACACACACACACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACACACTCACAT ACAGACACAACCACACCACACTCACACACACACACACACACACTCACATA CAGACACAACCACACCACACTCACACACACACACACACTCACATACAGAC ACAACCACACCACACTCACACACACACACTCACATACAGACACAACCACA CCACACTCACACACACACACACTCACATACAGACACAACCACACCACACT CACACACACACATACACACTCACATACAGACACAACCACACCACACACAC ACATACACACTCACATACAGACACAACCACACCACACACACACACACACT CACATACAGACACAACCACACCACACTCACACACACACACTCACATACAG ACACAACCACACCACACTCACACACACACACTCACATACAGACACAACCA CACCACACACACACACACT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0225 a0005c0006t0002g0225	1	460	0.0022	518	c.193 others(535): Show c.1938+733_1938+734insCACACATACAGACACAACCACACCACAC ACACACACACACATACACACTCACATACAGACACAACCACACCACACTCA CACACACACACTCACATACAGACACAACCACACCACACTCACACACACAC ACACACACACTCACATACAGACACAACCACACCACACTCACACACACACA CACACTCACATACAGACACAACCACACCACACTCACACACACACACTCAC ATACAGACACAACCACACCACACTCACACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACATACACACTCACATACAGACAC AACCACACCACACACACACATACACACTCACATACAGACACAACCACACC ACACACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACACTC ACATACAGACACAACCACACCACACACACACACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(511): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC GTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGC CGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCC ACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCC CCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCA CGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCG TCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC GTCTCCCCCACGTCGCCGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0113 a0001c0006t0001g0113	1	410	0.0024	518	c.-22 others(535): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTC CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(511): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCT TATCCCTCCTCCCTTCCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCC CTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCC TCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0002 a0002c0001t0002g0002	1	354	0.0028	518	c.69 others(529): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCT TCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCCTTCCTCCCTTCCCC CTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCC TCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP61_chr20_20047532_20365698	20357793	G G	GTGAGGGG others(511): Show GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTG TGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGT GAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGT GGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTG AGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACATT GAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTG TGAGGGGAGGTGGTCACAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03239.hp2 HG03834.hp2 others(3): Show HG02080.hp2 HG03239.hp2 HG03834.hp2 NA18906.hp1 NA18970.hp1 NA19064.hp2	a0001 a0003 a0025 a0001 a0003 a0025	a0001c0001 a0003c0005 a0025c0028 a0001c0001 a0003c0005 a0025c0028	a0001c0001t0001 a0001c0001t0004 a0003c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0003c0005t0001 a0025c0028t0001	a0001c0001t0001g0040 a0001c0001t0001g0177 a0001c0001t0001g0228 others(3): Show a0001c0001t0001g0040 a0001c0001t0001g0177 a0001c0001t0001g0228 a0001c0001t0004g0003 a0003c0005t0001g0080 a0025c0028t0001g0100	6	236	0.0254	518	c.351 others(537): Show c.3514-2415_3514-2414insAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGAGAGG TGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACT GAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGT GGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTG AGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACT GTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC TGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHODL_chr21_18239833_18272370	18251516	A A	AAAATAAA others(511): Show AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTAATATATAAAATAAATATTTATTTTAATATTAA AATAAATATTTATTTTATATATAAAATAAATATTTATTTAATATATAAAA TAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAA TATTTATTTTAATATATTAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATTAAAATAAATATTTATTTTATTTATTTATTTTA ATATATAAAATATTTTATTTATTTATTTTAATATATAAAATATTTATTTT ATTTATTATTTTAATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	402	0.0025	518	c.80- others(533): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATATTAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTT ATTTATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATAT AAAATATTTATTTTATTTATTATTTTAATATATAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(511): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTT CCTCCTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTCC TCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTC CTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0049 a0001c0005t0049	a0001c0005t0049g0183 a0001c0005t0049g0183	1	270	0.0037	518	c.162 others(539): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCT TCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCCCC TTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCT CCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(511): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTT CCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCC TCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTC CTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18989.hp2 HG01952.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0074 a0001c0001t0014 a0001c0001t0074	a0001c0001t0014g0045 a0001c0001t0074g0034 a0001c0001t0014g0045 a0001c0001t0074g0034	2	270	0.0074	518	c.162 others(539): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCT TCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCC TTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCT CCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(511): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCCTCTTCCTCCTCCTCCCCCTCCTCTTCCTCCTCCTCCCCCTCCTCTT CCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCC TCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTC CTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	270	0.0037	518	c.162 others(539): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCCCCCTCCTCT TCCTCCTCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCC TTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCT CCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNOT3_chr19_54132762_54160681	54133769	C C	CTCCCTCC others(511): Show CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCA CCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCC TCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCC TCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCT CCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCAC CTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCT CCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTC TCCACCTCCCCTCTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	223	0.0045	518	c.-42 others(529): Show c.-4275_-4274insTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCT CTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGT CCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTC CCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCC TCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTC CCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCC CCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCT CTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCT CTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3992		chr19	TogoVar
COL17A1_chr10_104026286_104090880	104036113	T T	TATATGTG others(511): Show TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATG GGTGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGT ATGACTGTGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGA GTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGT ATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAG TGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTG TGTGTATGGGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTG AGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAG TGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTG TGTGTGTATGGGAGTGTGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03704.hp1 HG03831.hp2 others(2): Show HG01167.hp1 HG03704.hp1 HG03831.hp2 HG04204.hp2 HG04228.hp1	a0003 a0003	a0003c0003 a0003c0058 a0003c0003 a0003c0058	a0003c0003t0001 a0003c0058t0001 a0003c0003t0001 a0003c0058t0001	a0003c0003t0001g0049 a0003c0003t0001g0050 a0003c0003t0001g0118 others(2): Show a0003c0003t0001g0049 a0003c0003t0001g0050 a0003c0003t0001g0118 a0003c0003t0001g0124 a0003c0058t0001g0126	5	336	0.0149	518	c.341 others(535): Show c.3418+378_3418+379insTCACACTCCCATACACACACACACTCAC TCCCATACACACACACCCATACTCACACTCCCATACACACACTCACTCCC ATACACACACACCCATACTCACACTCCCATACACACACACTCACTCCCAT ACACACACACCCATACTCACACTCCCATACTCCCATACACACACCCATAC TCACACTCCCATACACACACACCCATACACTCCCATACACACTCCCATAC ACAACCCATACTCACACTCACTCCCATACACACACACCCATACACTCCCA TACACACACTCACTCCCATACACCCATACACACATCCATACTCACACTCC CATACACACACTCCCATACACACACACCCATACACAGTCATACACACACC CCATACACTCCCATACACACACACTCTCCCATACACACACCCATACTCAC ACTCCCATACACACACCCATACGCACACTCCCACTCACACTCACTCCCAT ACACTCCCATAGACACACACACTCCCATACACACACATAT	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL17A1_chr10_104026286_104090880	104036113	T T	TATATGTG others(511): Show TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATG GGTGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGT ATGACTGTGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGA GTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGT ATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAG TGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTG TGTGTATGGGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTG AGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTG AGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGTGAGTGTG TGTGTGTATGGGAGTGTGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0191 a0007c0011t0001g0191	1	336	0.0030	518	c.341 others(535): Show c.3418+378_3418+379insTCACACTCCCATACACACACACACTCAC TCCCATACACACACCCATACTCACACTCCCATACACACACTCACTCCCAT ACACACACACACCCATACTCACACTCCCATACACACACACTCACTCCCAT ACACACACACCCATACTCACACTCCCATACTCCCATACACACACCCATAC TCACACTCCCATACACACACACCCATACACTCCCATACACACTCCCATAC ACAACCCATACTCACACTCACTCCCATACACACACACCCATACACTCCCA TACACACACTCACTCCCATACACCCATACACACATCCATACTCACACTCC CATACACACACTCCCATACACACACACCCATACACAGTCATACACACACC CCATACACTCCCATACACACACACTCTCCCATACACACACCCATACTCAC ACTCCCATACACACACCCATACGCACACTCCCACTCACACTCACTCCCAT ACACTCCCATAGACACACACACTCCCATACACACACATAT	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL17A1_chr10_104026286_104090880	104036113	T T	TATATGTG others(511): Show TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATG GGTGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGT ATGACTGTGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGA GTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGT ATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAG TGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTG TGTGTATGGGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTG AGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTG AGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTG TGTGTGTATGGGAGTGTGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00423.hp1 others(112): Show HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01952.hp1 HG02015.hp2 HG02040.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02717.hp1 HG02735.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG03017.hp1 HG03453.hp2 HG03490.hp2 HG03688.hp2 HG03942.hp1 HG03942.hp2 HG06807.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18985.hp1 NA18989.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19076.hp2 NA19077.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0016 a0018 a0022 a0023 a0026	a0001c0001 a0001c0014 a0001c0049 others(15): Show a0001c0001 a0001c0014 a0001c0049 a0001c0050 a0001c0052 a0001c0060 a0002c0007 a0002c0018 a0003c0003 a0004c0009 a0005c0005 a0007c0011 a0009c0012 a0016c0059 a0018c0055 a0022c0048 a0023c0047 a0026c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0014t0001 a0001c0049t0001 a0001c0050t0001 a0001c0052t0001 a0001c0060t0001 a0002c0007t0001 a0002c0007t0003 a0002c0018t0001 a0003c0003t0001 a0003c0003t0002 a0004c0009t0001 a0005c0005t0001 a0007c0011t0001 a0009c0012t0001 a0016c0059t0001 a0018c0055t0001 a0022c0048t0001 a0023c0047t0001 a0026c0041t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(99): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0244 a0001c0001t0002g0031 a0001c0001t0003g0038 a0001c0001t0010g0133 a0001c0014t0001g0065 a0001c0014t0001g0090 a0001c0014t0001g0109 a0001c0014t0001g0134 a0001c0014t0001g0135 a0001c0014t0001g0136 a0001c0049t0001g0061 a0001c0050t0001g0098 a0001c0052t0001g0033 a0001c0060t0001g0142 a0002c0007t0001g0025 a0002c0007t0001g0026 a0002c0007t0001g0180 a0002c0007t0001g0181 a0002c0007t0001g0259 a0002c0007t0001g0260 a0002c0007t0001g0276 a0002c0007t0003g0177 a0002c0018t0001g0167 a0002c0018t0001g0172 a0002c0018t0001g0186 a0003c0003t0001g0115 a0003c0003t0002g0079 a0004c0009t0001g0022 a0004c0009t0001g0217 a0004c0009t0001g0221 a0004c0009t0001g0233 a0004c0009t0001g0243 a0004c0009t0001g0246 a0005c0005t0001g0194 a0005c0005t0001g0199 a0005c0005t0001g0202 a0005c0005t0001g0203 a0005c0005t0001g0206 a0005c0005t0001g0240 a0007c0011t0001g0200 a0009c0012t0001g0004 a0009c0012t0001g0032 a0009c0012t0001g0146 a0009c0012t0001g0148 a0009c0012t0001g0288 a0016c0059t0001g0114 a0018c0055t0001g0195 a0022c0048t0001g0053 a0023c0047t0001g0156 a0026c0041t0001g0301	115	336	0.3423	518	c.341 others(535): Show c.3418+378_3418+379insTCACACTCCCATACACACACACTCACTC CCATACACACACACCCATACTCACACTCCCATACACACACTCACTCCCAT ACACACACACACCCATACTCACACTCCCATACACACACACTCACTCCCAT ACACACACACCCATACTCACACTCCCATACTCCCATACACACACCCATAC TCACACTCCCATACACACACACCCATACACTCCCATACACACTCCCATAC ACAACCCATACTCACACTCACTCCCATACACACACACCCATACACTCCCA TACACACACTCACTCCCATACACCCATACACACATCCATACTCACACTCC CATACACACACTCCCATACACACACACCCATACACAGTCATACACACACC CCATACACTCCCATACACACACACTCTCCCATACACACACCCATACTCAC ACTCCCATACACACACCCATACGCACACTCCCACTCACACTCACTCCCAT ACACTCCCATAGACACACACACTCCCATACACACACATAT	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL17A1_chr10_104026286_104090880	104036113	T T	TATGTGTG others(511): Show TATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAG TGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATGGG TGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGTAT GACTGTGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGT ATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTAT GGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTG TGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTG TGTATGGGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAG TGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAG TGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTG TGTGTGTATGGGAGTGTGA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0120 a0003c0003t0001g0120	1	336	0.0030	518	c.341 others(535): Show c.3418+378_3418+379insTCACACTCCCATACACACACACACTCAC TCCCATACACACACACCCATACTCACACTCCCATACACACACTCACTCCC ATACACACACACACCCATACTCACACTCCCATACACACACACTCACTCCC ATACACACACACCCATACTCACACTCCCATACTCCCATACACACACCCAT ACTCACACTCCCATACACACACACCCATACACTCCCATACACACTCCCAT ACACAACCCATACTCACACTCACTCCCATACACACACACCCATACACTCC CATACACACACTCACTCCCATACACCCATACACACATCCATACTCACACT CCCATACACACACTCCCATACACACACACCCATACACAGTCATACACACA CCCCATACACTCCCATACACACACACTCTCCCATACACACACCCATACTC ACACTCCCATACACACACCCATACGCACACTCCCACTCACACTCACTCCC ATACACTCCCATAGACACACACACTCCCATACACACACAT	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL4A1_chr13_110143963_110312157	110255806	A A	AGGGGGAA others(511): Show AGGGGGAAGGCAGGAAGGGAGGAGGAAGGCAGGAAGGGAGGGGGAAGGCA GGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAA GGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGA AGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCA GGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA20752.hp2 HG04204.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0010 a0004c0068 a0001c0010 a0004c0068	a0001c0010t0001 a0004c0068t0001 a0001c0010t0001 a0004c0068t0001	a0001c0010t0001g0150 a0004c0068t0001g0136 a0001c0010t0001g0150 a0004c0068t0001g0136	2	344	0.0058	518	c.85- others(535): Show c.85-13073_85-13072insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT GCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTTCCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(511): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGA GGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGAGGAGGGG GAGGGGAGGGGGAGGGGGAGAGGACGGGGAGGGGAGGGGGAGGGGGAGAG GACGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGGGGAGGG GGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGTAGGGGGAGG GGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0060 a0001c0006t0060	a0001c0006t0060g0103 a0001c0006t0060g0103	1	126	0.0079	518	c.416 others(539): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCCTACCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTC CCCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCGTCCTCTC CCCCTCCCCCTCCCCTCCCCGTCCTCTCCCCCTCCCCCTCCCCTCCCCCT CCTCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCTCTCC CTCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CTCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCACATCCCCCTCACATCCCCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CXorf51A_chrX_146809106_146819744	146812300	C C	CATATATG others(511): Show CATATATGTGTGTATATACGTATATACACATGTGTATATACGTATATACA CATGTGTATATACGTATATACACATATATGTATATATACACACATATACA CACATATATGTACACATATATATGTGTATATACATATATACACATATATA TGTGTATATACATATGTACACATATATATGTGTATATACATATATACACA TATATGTACACATATATATGTGTATATACATATATACACATATATGTACA CATATATATGTGTATATACATATATACACATATATGTACACATATATATG TGTATATACATATATACACATATATGTACACATATATATGTGTATATACA TATATACACATATATGTACACATATATATGTGTATATACATATATACACA TATATGTACACATATATATGTGTATATATGTGTGTATATACATATATGTG TATATATGTGTGTATATACATATATGTGTATATACGTATATACACATGTG TATATACGTATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	264	0.0038	518	c.19 others(529): Show c.1906_*1907insATGTGTATATACGTATATACACATGTGTATATAC GTATATACACATATATGTATATACACACATATATACACATATATGTATAT ACACACATATATACACATATATATGTGTACATATATGTGTATATATGTAT ATACACATATATATGTGTACATATATGTGTATATATGTATATACACATAT ATATGTGTACATATATGTGTATATATGTATATACACATATATATGTGTAC ATATATGTGTATATATGTATATACACATATATATGTGTACATATATGTGT ATATATGTATATACACATATATATGTGTACATATATGTGTATATATGTAT ATACACATATATATGTGTACATATGTATATACACATATATATGTGTATAT ATGTATATACACATATATATGTGTACATATATGTGTGTATATGTGTGTAT ATATACATATATGTGTATATACGTATATACACATGTGTATATACGTATAT ACACATGTGTATATACGTATATACACACATATAT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1805		chrX	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(511): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGG GAGGGGGAGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGG AGGGGAAGGGGGAGGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGG GGAGGGGGAAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAA GGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0099 a0002c0002t0022g0099	1	216	0.0046	518	c.923 others(537): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCCTCCCCTCCCC CTCCCCCTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCC ACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCC CCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DHRSX_chrX_2214506_2505976	2227761	A A	AAGGGAGG others(511): Show AAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGGAGGGGAGGGA GGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAGGGAAGGGAGGGA GGGAGGGAGGGAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAAG GGAGGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAG GGAAGGGAGGGAGGGAGGGAGGGAGGGGGGAAGGGAGGGAGGGAGGGAGG GGGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGAGGGGAAGGGA GGGAGGGAAGGAGGGAGGAAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAG GGAGGGAGGGAGGAAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAGGGGGG AAGGGAGGGAGGGAGGGGGGAAGGGGGAAGGCAGGGAGGGAAGGGAGGGA GGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0002 a0003c0016t0002	a0003c0016t0002g0040 a0003c0016t0002g0040	1	50	0.0200	518	c.805 others(535): Show c.805-6533_805-6532insCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCCTCCCTGCCTTCCCCCTTCCCCCCTCCCTCCCTCCCTTCCCCCCTCC CTCCCTCCCTCCCTCCCTTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCC TCCCTTCCCTCCCTCCCTCCCTTCCTCCCTCCTTCCCTCCCTCCCTTCCC CTCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCCCCCTCCCTCC CTCCCTCCCTTCCCCCCTCCCTCCCTCCCTCCCTCCCTTCCCTCCCTCCC TCCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCCTCCCTTCCCTCC CTTCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCCTCCCTCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCCCTCCCC TCCCTCCCTCCCTCCCTCCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(511): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCCACCCCCACCCG CACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCCACCCGC ACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCC GCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCAC CCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCC CCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTC ACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCAC CCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCC TCACCCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0211 a0002c0002t0001g0211	1	320	0.0031	518	c.39 others(529): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGG GGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGGTGGGGGGTGG GGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DPP6_chr7_154047398_154899285	154062984	T T	TTACGATC others(511): Show TTACGATCCGACGGGTCCGAACGCAGCTCGGGAACAGAAAGAAAGCAGGT TATTTGCAATCTACCGGAGCTTAAGGGCAGAAGGCAGGTGAGAGAATTCT TAGGAGCTGTGGGGTTTTGTAGACTGTGGATCCCAAACTGCAGTATTAGC CAAGCCTTTGTATGAGGTCACAAAGGGGGCGGGGACCCGGAACTTTTGAA ATGGGGATCCCAACAACAGCAAGTTTTTCATGAGTTACAAGAAAATCTTC TGGCAGCCCCAGCCCTGGGGCTACCCGATCTGACAAAGCCTTTTCCATTG TATGCGTCAGAGAGAGAAGAGACGGCAGCTGAAATTTTAACCCAAACTGT GGGGCCCTGGCTGAGGCCGGCAGCCTACGTCTCTAAACAACTAGACAGGG TTGCTAAAGGATGGCCCCCCTGTTAGAGGGCCTTGGCAGCAACTGCCCTG CTAGTACAAGAAGCAAATAAGCTGATTCTTGGGCAAAACCTGAACATAAA GGGCCCCCATTTTGTGATG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0028 a0002c0004t0006g0028	1	38	0.0263	518	c.243 others(535): Show c.243+9921_243+9922insTACGATCCGACGGGTCCGAACGCAGCTC GGGAACAGAAAGAAAGCAGGTTATTTGCAATCTACCGGAGCTTAAGGGCA GAAGGCAGGTGAGAGAATTCTTAGGAGCTGTGGGGTTTTGTAGACTGTGG ATCCCAAACTGCAGTATTAGCCAAGCCTTTGTATGAGGTCACAAAGGGGG CGGGGACCCGGAACTTTTGAAATGGGGATCCCAACAACAGCAAGTTTTTC ATGAGTTACAAGAAAATCTTCTGGCAGCCCCAGCCCTGGGGCTACCCGAT CTGACAAAGCCTTTTCCATTGTATGCGTCAGAGAGAGAAGAGACGGCAGC TGAAATTTTAACCCAAACTGTGGGGCCCTGGCTGAGGCCGGCAGCCTACG TCTCTAAACAACTAGACAGGGTTGCTAAAGGATGGCCCCCCTGTTAGAGG GCCTTGGCAGCAACTGCCCTGCTAGTACAAGAAGCAAATAAGCTGATTCT TGGGCAAAACCTGAACATAAAGGGCCCCCATTTTGTGATG	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25			chr7	TogoVar
EIPR1_chr2_3183970_3382818	3315905	C C	CCACACCC others(511): Show CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCA TCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACAG CCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCAC CATCACCACCATCCCCATA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	250	0.0040	518	c.259 others(537): Show c.259+22111_259+22112insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATG GTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGG GTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315905	C C	CCACACCC others(511): Show CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCTATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCA TCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACAG CCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCAC CATCACCACCATCCCCATA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	250	0.0040	518	c.259 others(537): Show c.259+22111_259+22112insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATAGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATG GTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGG GTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315905	C C	CCACACCC others(511): Show CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCTATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCTATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCA TCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACAG CCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCAC CATCACCACCATCCCCATA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	250	0.0040	518	c.259 others(537): Show c.259+22111_259+22112insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATA GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATAGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATG GTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGG GTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EXD3_chr9_137301896_137428162	137355485	A A	AGGAGAAA others(511): Show AGGAGAAAGGGAGGAAGGAGAAAGGAGGAAGGAGGACGGAGGAAGGAGGA TGGAGGAAAGGAGGAAGGAGGACGGAGGAAGGAGGATGGAGGAAGGAGGA AGGAGGAAGGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGACGGAGGA AGGAGGATGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGATGGAGGAA GGAGGATGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGATGGAGGAA GGAGGAAGGAGGACGGAGGAAGGAGGATGGAGAAGGAGGATGGAGGAAGG AGGAAGGAGGACGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGA GGAAGGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGACGGAGGAAGGA GGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGA GGATGGAGGAAGGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGA GGAAGGAGGATGGAGGAAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0048	1	82	0.0122	518	c.758 others(533): Show c.758-713_758-712insCTTCCTCCATCCTCCTTCCTCCTTCCTCCT TCCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCATCCTCCCTTCCTCC TTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCG TCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCCTTCCTCCTTCCTCCT TCCTCCTTCCTCCTTCCTCCTTCCTCCGTCCTCCTTCCTCCTTCCTCCAT CCTCCTTCTCCATCCTCCTTCCTCCGTCCTCCTTCCTCCTTCCTCCATCC TCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCATCC TCCTTCCTCCATCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCGTCCT CCTTCCTCCTTCCTCCATCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCT CCATCCTCCTTCCTCCGTCCTCCTTCCTCCTTTCCTCCATCCTCCTTCCT CCGTCCTCCTTCCTCCTTTCTCCTTCCTCCCTTTCTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
F13A1_chr6_6139084_6325662	6261580	G G	GCCCTCCA others(511): Show GCCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGA TTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTC CAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGAC CCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATT CTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCA AGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCC TCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCT GATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAG CGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTC CAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGA TGTGCTCCAAGCGTGCTGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18522.hp1 HG02976.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0004 a0001c0001t0004 a0002c0002t0004	a0001c0001t0004g0082 a0002c0002t0004g0081 a0001c0001t0004g0082 a0002c0002t0004g0081	2	292	0.0069	518	c.571 others(535): Show c.571+4977_571+4978insTCAGCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCA CATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACC TGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCA CGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACA TCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTG GAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCACG CTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATC AGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGGA GGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261580	G G	GCCCTCCA others(511): Show GCCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGA TTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTC CAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGAC CCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATT CTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCA AGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCC TCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCT GATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAG CGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTC CAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGA TGTGCTCCAAGCGTGGTGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0182 a0001c0009t0001g0182	1	292	0.0034	518	c.571 others(535): Show c.571+4977_571+4978insTCACCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCA CATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACC TGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCA CGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACA TCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTG GAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACG CTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATC AGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGA GGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261984	G G	GTGACCCT others(511): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACC CTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTC TGATGTGCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0164 a0002c0002t0001g0164	1	292	0.0034	518	c.571 others(535): Show c.571+4573_571+4574insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGA ATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
FBN2_chr5_128252909_128543245	128540066	T T	TTATATAT others(511): Show TTATATATCATATATATCATATATATCATATATATTATATATCATATATA TCATATATATCATATATCATATATATCATATATCATATATATCATATATA TCATATATATCATATATATCATATATATCATATATATCATATATATCATA TATATCATATCTATCATATATATCATATCTATCATATATCATATATATCA TATATCATATATATCATATATATCATATATCATATATCATATATATCATA TATCATATATCATATATATCATATATCATATATCATATATATCATATATC ATATATCATATATATCATATATATCATATATCATATATATCATATATATC ATATATCATATATATCATATATATCATATATCATATATATCATATATATC ATATATCATATATATCATATATATCATATATCATATATATCATATATATC ATATATCATATATATCATATATATCATATATCATATATATCAATCATATA TATTATATATCATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02922.hp1 HG01069.hp1 HG01071.hp1 HG02922.hp1	a0003 a0008 a0003 a0008	a0003c0007 a0008c0042 a0003c0007 a0008c0042	a0003c0007t0006 a0008c0042t0012 a0003c0007t0006 a0008c0042t0012	a0003c0007t0006g0055 a0003c0007t0006g0056 a0008c0042t0012g0054 a0003c0007t0006g0055 a0003c0007t0006g0056 a0008c0042t0012g0054	3	236	0.0127	518	c.-24 others(529): Show c.-2464_-2463insTGATATATGATATATAATATATATGATTGATATA TATGATATATGATATATATGATATATATGATATATGATATATATGATATA TATGATATATGATATATATGATATATATGATATATGATATATATGATATA TATGATATATGATATATATGATATATATGATATATGATATATATGATATA TATGATATATGATATATATGATATATATGATATATGATATATGATATATA TGATATATGATATATGATATATATGATATATGATATATGATATATATGAT ATATGATATATGATATATATGATATATATGATATATGATATATATGATAT ATGATAGATATGATATATATGATAGATATGATATATATGATATATATGAT ATATATGATATATATGATATATATGATATATATGATATATATGATATATA TGATATATGATATATATGATATATGATATATATGATATATATGATATATA ATATATATGATATATATGATATATATGATATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1822		chr5	TogoVar
FTCD_chr21_46131779_46160579	46145735	T T	TGCCCTCC others(511): Show TGCCCTCCCAACAGCGCCCTTCCCCCTCCCCGCCCTCCCCCCCAACAGCG CCCTCCCCCCAACAACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCC CAACAGCGCCCTCCCCCCAACAACTGCGCCCTCCCCTTCCCCCTCCCCGC CCTCCCCCCAACAGCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACT GCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCC CAACAACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGC CCTCCCCCCAACAGCGCCCTCCCCCCAACTGTGCCCTCCCCTTCCCCCTC CCCGCCCTCCCCCCAACAGCGCCTTCCCCCCACCCCGCGCTCCCCCCAAC AGCGCCCTCCCCCCAACAGCACCCTCCCCCCAACAGCGCCCTCCCCCCAA CAGCGCCCTCCCCCAACAGTGCCCTTCCCCCTCCCCGCCCTCCCCCAACA GCGCCCTCCCCCCAACAGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	230	0.0044	518	c.109 others(533): Show c.1098+82_1098+83insGCTGTTGGGGGGAGGGCGCTGTTGGGGGAG GGCGGGGAGGGGGAAGGGCACTGTTGGGGGAGGGCGCTGTTGGGGGGAGG GCGCTGTTGGGGGGAGGGTGCTGTTGGGGGGAGGGCGCTGTTGGGGGGAG CGCGGGGTGGGGGGAAGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGG GGAGGGCACAGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGCTGTTGGG GGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCG CTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGG GGAGGGCGCTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGG GAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCG GGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGG GGGAGGGCGGGGAGGGGGAAGGGCGCTGTTGGGAGGGC	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13			chr21	TogoVar
GET4_chr7_871554_901436	889979	G G	GGGGCCTG others(511): Show GGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAG CGCGAGCGGGTGTTAGGAC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	384	0.0026	518	c.467 others(533): Show c.467-946_467-945insCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGT CTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	889979	G G	GGGGCCTG others(511): Show GGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAG CGCGAGCGGGTGTTAGGAC	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	384	0.0026	518	c.467 others(533): Show c.467-946_467-945insCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGT CTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	889979	G G	GGGGTCTG others(511): Show GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAG CGCGAGCGGGTGTTAGGAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	384	0.0026	518	c.467 others(533): Show c.467-916_467-915insCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTT AGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	890019	G G	GGGGCCTG others(511): Show GGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAG CGCGAGCGGGTGTTAGGAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp1 HG00639.hp2 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	2	384	0.0052	518	c.467 others(533): Show c.467-906_467-905insCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGT CTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GPR173_chrX_53043789_53085615	53074114	T T	TTATATAT others(511): Show TTATATATAAATATATAAATATACATTTATATATAAATATATAAATATAC ATTTATATATAAATATATATAAATATACATTTATATATAAATATATATAA ATATACATTTATATATAAATATATATAAATATACATTTATATATAAATAT ATATAAATATACATGTATATTTATTCATATATAAATATATATAAATATAC ATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTAT TCATATATAAATATATATAAATATACATGTATATTTATTCATATATAAAT ATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATAT ACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTT ATTCACATATAAATATATATAAATATACATGTATATTTATTCACATATAA ATATATATAAATATACATGTATATTTATTCACATATAAATATATATAAAT ATACATGTATATTTATTCA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0196 a0001c0002t0002g0196	1	208	0.0048	518	c.-97 others(535): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATAAATATACATTTATATATAAATATATATAAATATACATTTATA TATAAATATATATAAATATACATTTATATATAAATATATATAAATATACA TTTATATATAAATATATATAAATATACATGTATATTTATTCATATATAAA TATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCACATATAAATATATATAAATATACATGTATA TTTATTCACATATAAATATATATAAATATACATGTATATTTATTCACATA TAAATATATATAAATATACATGTATATTTATTCATATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074114	T T	TTATATAT others(511): Show TTATATATAAATATATAAATATACATTTATATATATATATATAAATATAC ATTTATATATAAATATATATAAATATACATTTATATATAAATATATATAA ATATACATTTATATATAAATATATATAAATATACATTTATATATAAATAT ATATAAATATACATGTATATTTATTCATATATAAATATATATAAATATAC ATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTAT TCATATATAAATATATATAAATATACATGTATATTTATTCATATATAAAT ATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATAT ACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTT ATTCACATATAAATATATATAAATATACATGTATATTTATTCACATATAA ATATATATAAATATACATGTATATTTATTCACATATAAATATATATAAAT ATACATGTATATTTATTCA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0168 a0001c0002t0002g0168	1	208	0.0048	518	c.-97 others(535): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA TATATATAAATATACATTTATATATAAATATATATAAATATACATTTATA TATAAATATATATAAATATACATTTATATATAAATATATATAAATATACA TTTATATATAAATATATATAAATATACATGTATATTTATTCATATATAAA TATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCACATATAAATATATATAAATATACATGTATA TTTATTCACATATAAATATATATAAATATACATGTATATTTATTCACATA TAAATATATATAAATATACATGTATATTTATTCATATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(511): Show TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCT CTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACG CCCCACTCCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0121 a0004c0121	a0004c0121t0004 a0004c0121t0004	a0004c0121t0004g0236 a0004c0121t0004g0236	1	408	0.0025	518	c.633 others(535): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTC TCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar

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