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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Select column to sort.

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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
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(607): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGAGAATAGAGGAGGAGA AAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGGAGGGAGA AAGGAGGAGGGGAGGAGAGGAAAAGGTGAAAGGAGGAGGGAGAGGAGGGA CAAAAGAGGAGAAGAGGAGGAGGGGAGAAAGGGGAGGTGGGAGGAGGAAG TGAAGGGGAGGAGGGTGAAGTGGGAGAAAAGAAGAGAAAGGAGGGAGGGA GGAGGTGGGAGAAGGGAAGGGGAGGAGGTGGGGAAAGGAGGGGAGGAGGA GGGAGAAGGTGGGGAGGAGGAGTGTTGAGGGGTGAGGAGGAGGAGTGGGG GGAGGAGTGAGGAGGAGGGGAGGTGGTGAGTGGTGGTGGGGAGGAGGAGT GAGAGGTGGGGTAGGAGGAGGAGAGGAGGAGGGGAGGAGGAGTGAAGAGG GAGGAGGAGAGTTAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGG GAGGAGGATGGCAGAATGGAGGAAGGAGGGGAGGAGGAGAGGGAAAGAGT CGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	386	0.0026	614	c.-46 others(625): Show c.-4676_-4675insTCCCTCCTCCTCCCGACTCTTTCCCTCTCCTCCT CCCCTCCTTCCTCCATTCTGCCATCCTCCTCCCCTCCTCCTTCCTCTCCT CCTCCTCCTCTCTTCCTTAACTCTCCTCCTCCCTCTTCACTCCTCCTCCC CTCCTCCTCTCCTCCTCCTACCCCACCTCTCACTCCTCCTCCCCACCACC ACTCACCACCTCCCCTCCTCCTCACTCCTCCCCCCACTCCTCCTCCTCAC CCCTCAACACTCCTCCTCCCCACCTTCTCCCTCCTCCTCCCCTCCTTTCC CCACCTCCTCCCCTTCCCTTCTCCCACCTCCTCCCTCCCTCCTTTCTCTT CTTTTCTCCCACTTCACCCTCCTCCCCTTCACTTCCTCCTCCCACCTCCC CTTTCTCCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCC TTTCACCTTTTCCTCTCCTCCCCTCCTCCTTTCTCCCTCCCCCCTCCCCT CATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCT CCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTCC TCCTCCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
LINGO3_chr19_2282164_2313154	2308178	C C	CGCCGCCG others(607): Show CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG CCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG CCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG CCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG CCGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCGCCGCCGCCGCCGCCGC CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG CCGCCGCCGCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0190 a0001c0003t0018g0190	1	418	0.0024	614	c.-15 others(623): Show c.-150_-149insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG CGGCGGCGGCGGCGGCGGCGGCGGCGGC	LINGO3	ENSG00000220008.4	transcript	ENST00000698372.1	protein_coding		25		chr19	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(607): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGA TTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGT GTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGT GTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGT GTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTGGTTGATGGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGG AGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGG GGAGTGTGGTTGATG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0240 a0002c0002t0004g0240	1	360	0.0028	614	c.57+ others(631): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGG GGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGG GGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGG GGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGG GGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTGGTTGATG GGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTG ATGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTT GGTGGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(607): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAG GGGAGGGGCAGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGG CGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGT GAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGGGGG AGGTGGAGGGGAGGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGA GGGAAGAGGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGGA GGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAG GGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGG GGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAG GGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	272	0.0037	614	c.250 others(629): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCCTCCCCCTCCACTCC CCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTCTCC CTCCCTTCCCTCCCCCTCCCCCTCCCCCTCTTCCCTCCCCCTCCCCTCCC CCTCCCCCCCTCCCCCTCCCCCCTCCCCTCCACCTCCCCCCTACCCTCCC CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCATCCT CCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTC CCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCT TCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCC TTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCC CCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MPPED1_chr22_43407014_43512848	43432632	A A	AGAGAGAG others(607): Show AGAGAGAGGGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAG AGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAG GGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGA GAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAT AAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGGGAAAGAGGGAGGAGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGA GAGAGAGAGGGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGA GAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAG AGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0036 a0001c0006t0005g0036	1	250	0.0040	614	c.225 others(631): Show c.225-2395_225-2394insGGAGGAGAGAGAGGGAAAGAGAGAGAGA AGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAA GGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAAA GGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGAGAGAGAGGGAAAGAGGGAGGAGAGAGAGAGGGAAAGAGAG AGAGAAGGGGAGGAGAGAGAGAGGGAGGAGAGAGAGGGAAAGAGAGAGAG AAGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAG AGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(607): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0284 a0002c0002t0002g0284	1	364	0.0028	614	c.394 others(629): Show c.394-573_394-572insGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(607): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0128 a0002c0002t0002g0128	1	364	0.0028	614	c.394 others(629): Show c.394-573_394-572insGTTCATGTATATTCATATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(607): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03654.hp1 HG02523.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0089 a0002c0002t0002g0187 a0002c0002t0002g0089 a0002c0002t0002g0187	2	364	0.0055	614	c.394 others(629): Show c.394-573_394-572insGTTCATGTATATTCATATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(607): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0204 a0002c0002t0002g0204	1	364	0.0028	614	c.394 others(629): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(607): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18990.hp2 NA19005.hp2 HG02735.hp1 NA18990.hp2 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0181 a0002c0002t0002g0200 a0002c0002t0002g0203 a0002c0002t0002g0181 a0002c0002t0002g0200 a0002c0002t0002g0203	3	364	0.0082	614	c.394 others(629): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(607): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0207 a0002c0002t0013g0207	1	364	0.0028	614	c.394 others(629): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(607): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0295 a0002c0002t0002g0295	1	364	0.0028	614	c.394 others(629): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
NME4_chr16_392199_405754	397669	T T	TGTGGGGG others(607): Show TGTGGGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGTGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0261 a0005c0008t0001g0261	1	356	0.0028	614	c.91+ others(627): Show c.91+365_91+366insGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGG TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(607): Show TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATATATAGTAACTATATTAATATAGTTAGTATATATTAATATATAGT AACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18906.hp2 HG03516.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0068 a0002c0002t0010g0069 a0002c0002t0010g0068 a0002c0002t0010g0069	2	422	0.0047	614	c.195 others(631): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATT ATTAATATAGTTACTATATATTAATATACTAACTATATTAATATAGTTAC TATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAAT ATATACTAACTATATTAATATAGTTACTATATATTAATATAGTTACTATA TATTAATATACTAACTATATTATTAATATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(607): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGACTAC AGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCC GCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGGG CCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAGAGTTGGGGCCAG GCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGC GGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCGCC TGTAGTCCCAGCTACTCGGAGGCTGAGGCAGGAGAATGGCATGAACCCGG GAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCAGCCTGGG GGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAGAGATGGG GTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0157 a0006c0009t0002g0157	1	378	0.0027	614	c.876 others(629): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTGTT TGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGAGTGCA GTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCCAT TCTCCTGCCTCAGCCTCCGAGTAGCTGGGACTACAGGCGCCCACCACCGC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTA GCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTC CCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACTCTT TTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTGGCTCACAC CTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAG GAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCAGCTACTC GGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGCTGCAG TGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(607): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATGTATTACATATATGTAATACATATAT AACATGTATTACATATATGTAATACATATATAACATGTATTACATATATG TAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0002 a0001c0001t0019g0002	1	400	0.0025	614	c.70 others(625): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATGTATTACATAT ATGTAATACATATATAACATGTATTACATATATGTAATACATATATAACA TGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(607): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTG TGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGG TGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGA GTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGG GGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACT GAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGG GGGGTGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGCAC TGAGTCTGGGGGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGGGAG GGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATG CACTGAGTCTGGGGG	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA20129.hp2 HG02155.hp1 NA20129.hp2	a0015 a0015	a0015c0066 a0015c0130 a0015c0066 a0015c0130	a0015c0066t0001 a0015c0130t0001 a0015c0066t0001 a0015c0130t0001	a0015c0066t0001g0054 a0015c0130t0001g0251 a0015c0066t0001g0054 a0015c0130t0001g0251	2	282	0.0071	614	c.299 others(629): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCC CCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCA GTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACC CCCCCCTCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACT CAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACAC CCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGA CTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCAC ACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCA GACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCC ACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCC CAGACTCAGTGCATCCCCACGCCCCCCCTCCCCCCAGACTCAGTGCATCC CCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCATGCCCCGCCCTCT CCCCAGACTCAGTGCATCCCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(607): Show AGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGGGGGCGTGG GGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTG GGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGTGGGGTGT GGGGATGCACTGAGTCTGGGGGAGGGTGGGGTGTGGGGATGCACTGAGTC TGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGT GTGGGGATGCACTGAGTCTGGGGGAGGGTGGGGTGTGGGGATGCACTGAG TCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGG GTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTG AGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGG GGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCAC TGAGTCTGGGGGGAGGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGG GGGGGGGTGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATG CACTGAGTCTGGGGG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0102 a0001c0102	a0001c0102t0001 a0001c0102t0001	a0001c0102t0001g0248 a0001c0102t0001g0248	1	282	0.0036	614	c.299 others(629): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCC CCCTCCCCAGACTCAGTGCATCCCCACACCCCCCCCCTCCCCCAGACTCA GTGCATCCCCACGCCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACACC CCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGAC TCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACA CCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAG ACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCA CACCCCACCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCC AGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCC CACACCCCACCCTCCCCCAGACTCAGTGCATCCCCACACCCCACCCTCCC CCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATC CCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACGCCCCCCCTCC CCCCAGACTCAGTGCATCCCCACACCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PITPNM3_chr17_6446263_6561555	6561243	C C	CCTTCCTC others(607): Show CCTTCCTCCTTCTCCTCTTCCTTCTCCCCTCCTCCTCCTCTTCCTCCTCC TTCTCCCTTCTTCTGCCTCTTCCTCCTTCTCCTCTTCCTTCTCCCCTCCT CCTCCTCTTCCTCCTCCTTCTCCCTTCTTCTGCCTCTTCCTCCTTCTCTT CTTTCTCCCCTCCTCCTCCTCTTCCTTCTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCTCTTCCTCCTCCTTCTCTTTATTCTCCCCTCCTCCTCTTCCT CCTCCTTCTCCCTTCCTCTTCCTCCTTCTCCTCTTCTTTCTCCCCTCCTC CTCTTCCTCCTTCTCCTCCTCCTCCTCTTCCTCCTTCTCCCCTCCTCCTC CCCTCCTCCTCTTCCTCATCCTCCTCCCCTCCTCTTCCTCCTTCTCATCC TCCTTCCCTCTTCCTCCTTCTCCCCCCTCCTTCCCTCCTCTTCCTCCTTC TCCTCCTCCTCCCCCCTTCCTCCTCTTCCTCCTCCCCTCCCCCTCCTCTT CCTCCTCCCCTCCCCCTCCTCTTCCTCCTCCTCTCCCTTCCTCTTCCCCT TCCTCCTTCTCCTCTTCCTTCTCCCCTCCTCCTCCTCTTCCTCCTCCTTC TCCCTTCTTCTGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	218	0.0046	614	c.-48 others(625): Show c.-4838_-4837insAGGCAGAAGAAGGGAGAAGGAGGAGGAAGAGGAG GAGGAGGGGAGAAGGAAGAGGAGAAGGAGGAAGGGGAAGAGGAAGGGAGA GGAGGAGGAAGAGGAGGGGGAGGGGAGGAGGAAGAGGAGGGGGAGGGGAG GAGGAAGAGGAGGAAGGGGGGAGGAGGAGGAGAAGGAGGAAGAGGAGGGA AGGAGGGGGGAGAAGGAGGAAGAGGGAAGGAGGATGAGAAGGAGGAAGAG GAGGGGAGGAGGATGAGGAAGAGGAGGAGGGGAGGAGGAGGGGAGAAGGA GGAAGAGGAGGAGGAGGAGAAGGAGGAAGAGGAGGAGGGGAGAAAGAAGA GGAGAAGGAGGAAGAGGAAGGGAGAAGGAGGAGGAAGAGGAGGAGGGGAG AATAAAGAGAAGGAGGAGGAAGAGGAGGAGGAGGAAGAGGGGGAGGAGGA GGAGAAGGAAGAGGAGGAGGAGGGGAGAAAGAAGAGAAGGAGGAAGAGGC AGAAGAAGGGAGAAGGAGGAGGAAGAGGAGGAGGAGGGGAGAAGGAAGAG GAGAAGGAGGAAGAGGCAGAAGAAGGGAGAAGGAGGAGGAAGAGGAGGAG GAGGGGAGAAGGAAGAGGAGAAGGAGGAAG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4689		chr17	TogoVar
PNPLA7_chr9_137454952_137555402	137502691	A A	ATGTGGGA others(607): Show ATGTGGGAGATGAGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGG GGGGACGGGGGGGACGGGGGGGACGAGGGGGACGCGGGGGACGGGGGGGA CGAGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGAGG GGGACGCGGGGGACGGGGGGGACGGGGGGACGGGGGGGACGCGGGGGACG CGGGGGGACGCGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGG GGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGA CGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGACGCGGGGGGCACG GGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGGGGGG GACGCGGGGGGCGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGACG CGGGGGGCACGGGGGGCACGGGGGGGACGGGGGGGACGCGGGGGACGGGG GGGACGCGGGGGGACGCGGGGGGCGGGGGGGACGGGGGGGACGCGGGGGA CGCGGGGGACGCGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGGACGC GGGGGGCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0054 a0011c0011t0001g0054	1	188	0.0053	614	c.147 others(631): Show c.1474-965_1474-964insCCCCCCCCGCCCCCCGCGTCCCCCCGCG TCCCCCCCGTCCCCCGCGTCCCCCCGCGTCCCCCGCGTCCCCCGCGTCCC CCCCGTCCCCCCCGCCCCCCGCGTCCCCCCGCGTCCCCCCCGTCCCCCGC GTCCCCCCCGTCCCCCCCGTGCCCCCCGTGCCCCCCGCGTCCCCCCGCGT CCCCCCCGTCCCCCCCGTCCCCCCCGCCCCCCGCGTCCCCCCCGTCCCCC CCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTGCCCCCCGCG TCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCGCGTCC CCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCC GTCCCCCCCGTCCCCCCCGTCCCCCCGCGTCCCCCCGCGTCCCCCGCGTC CCCCCCGTCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCTCGTCCCCCCC GTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCTCGTCCCCCCCGTCCC CCGCGTCCCCCTCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCG TCCCCCCCGTCCCCCGCGTCCCCCTCATCTCCCACA	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
POLG_chr15_89311320_89339824	89325147	T T	TGAGTGAG others(607): Show TGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAG AGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAG AGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAG TGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTG AGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAG TGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTG AGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTG AGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTG AGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAG TGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTG AGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTG AGAGAGTGAGTGAGA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	398	0.0025	614	c.194 others(631): Show c.1949+302_1949+303insTCTCACTCACTCTCTCACTCACTCACTC ACTCTCTCTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTC ACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCAC TCACTCTCTCACTCACTCACTCTCTCACTCTCTCACTCACTCACTCACTC TCTCACTCACTCTCTCACTCACTCACTCACTCTCTCTCACTCTCTCACTC ACTCACTCTCTCACTCACTCACTCACTCACTCACTCTCTCACTCACTCAC TCTCTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTC TCTCACTCACTCACTCTCTCACTCTCTCACTCACTCACTCACTCACTCAC TCTCTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTC TCTCACTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCAC TCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCTCTCTCTCACTC ACTCACTCACTCTCTCTCACTCTCTCACTCACTCACTCTCTCACTCACTC ACTCACTCACTCTCTCACTCACTCTCTCACTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POU6F2_chr7_38972909_39473601	39040063	T T	TTATATAT others(607): Show TTATATATATATATATGTATATAATATATATATGTATTATGTGTGTGTGT GTATATATATGTGTGTATATATATATGTATATATATATACATATATATAC ATATATATATACACACATATATATACACACATATATATACACACATATAT ATACACACACACACACATAATATATATGTATTATATATATGTATATAATA TATATATATATATTATCAGCAGCTGTATTGACAAGATTTTCATTACTTCC TAAATGTCTGCACTGGCTTGCTTTATTTTTCCTTTTAAAGTTTATATATA TATAAATGTATATAATATATATACATATATATAATACATATATATGTATA TAATATATATATGTATTATGTGTGTGTGTGTGTATATATATGTGTATATA TATATGTATATATATATACATATATATACATATATATATACACACATATA TATACACACATATATATACACACATATATATACACACACACACACATAAT ACATATATATATTATATACATATATATGTATTATATATATGTATATATAT TATATACATATATATGTATTATATATATGTATATATATTATATACATATA TATGTATTATATATG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0001 a0004c0016t0001	a0004c0016t0001g0092 a0004c0016t0001g0092	1	170	0.0059	614	c.106 others(633): Show c.106-45788_106-45787insATATATGTATATAATATATATATGTA TTATGTGTGTGTGTGTATATATATGTGTGTATATATATATGTATATATAT ATACATATATATACATATATATATACACACATATATATACACACATATAT ATACACACATATATATACACACACACACACATAATATATATGTATTATAT ATATGTATATAATATATATATATATATTATCAGCAGCTGTATTGACAAGA TTTTCATTACTTCCTAAATGTCTGCACTGGCTTGCTTTATTTTTCCTTTT AAAGTTTATATATATATAAATGTATATAATATATATACATATATATAATA CATATATATGTATATAATATATATATGTATTATGTGTGTGTGTGTGTATA TATATGTGTATATATATATGTATATATATATACATATATATACATATATA TATACACACATATATATACACACATATATATACACACATATATATACACA CACACACACATAATACATATATATATTATATACATATATATGTATTATAT ATATGTATATATATTATATACATATATATGTATTATATATATGTATATAT ATTATATACATATATATGTATTATATATGTATATATAT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(607): Show GTCTCTCCCCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCT TCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCT CTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCAT CCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCC CCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCTTCTCTCTCTTCTG CTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCC TCTCTCATCCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTC TCTCCTCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTGTCCCGTC CCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCT CCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTC CCTCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00438.hp2 others(6): Show HG00140.hp2 HG00280.hp1 HG00438.hp2 HG00735.hp1 HG02886.hp1 NA19005.hp2 NA19074.hp1 NA19079.hp1 NA19091.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0012 others(2): Show a0001c0001 a0001c0002 a0001c0012 a0002c0003 a0004c0010	a0001c0001t0001 a0001c0001t0046 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0046 a0001c0002t0002 a0001c0002t0015 a0001c0002t0018 a0001c0012t0009 a0002c0003t0001 a0004c0010t0060	a0001c0001t0001g0119 a0001c0001t0001g0175 a0001c0001t0046g0042 others(6): Show a0001c0001t0001g0119 a0001c0001t0001g0175 a0001c0001t0046g0042 a0001c0002t0002g0135 a0001c0002t0015g0118 a0001c0002t0018g0085 a0001c0012t0009g0113 a0002c0003t0001g0018 a0004c0010t0060g0087	9	210	0.0429	614	c.439 others(633): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCTCCCTCTCTC CCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCC TCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCCTC CTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTC CCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTG TCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTC CCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCT CCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTC CCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTC TCTTCCCCTCCCTCCCTCTCTCCTCCTCCCTCTGTCCCGTCCCTCTCTCC CCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCT CCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCC CTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCCTCTCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB11FIP3_chr16_420649_528011	492387	G G	GGGCCCTC others(607): Show GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGAC CCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCT CCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGG AGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGG CCCTTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAG GCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCA GAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAG ACCCGAGGCCGCCCA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0219 a0001c0001t0049g0219	1	295	0.0034	614	c.126 others(633): Show c.1265+3387_1265+3388insGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGA GACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGTCCAGAG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCC GGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCC AGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACC CGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAG GCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(607): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGAT CGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATA AAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAG CCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGT CTCAAAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCC CAGGCTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCC AGGACTCGAGCCATC	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18940.hp2 HG02572.hp1 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0128 a0001c0001t0001g0064 a0001c0001t0001g0128	2	366	0.0055	614	c.433 others(629): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCT GTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCGCTGCAACCCCC GCCTCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTATACTTTTAATAGA GACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGT GATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCA CCGCGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAAGCCGGG CGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGC AGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACC CCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCT ATAGTCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(607): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGT AATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGA TCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTAT AAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGA GCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTG TCTCAAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCC CAGGCTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCC AGGACTCGAGCCATC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0259 a0002c0002t0001g0259	1	366	0.0027	614	c.433 others(629): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTG TTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCGCTGCAACCCCCG CCTCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTATACTTTTAATAGAG ACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTG ATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCAC CGCGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAAAGCCGGG CGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGC AGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACC CCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCT ATAGTCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RC3H2_chr9_122839556_122910359	122867055	A A	ACCCCCGT others(607): Show ACCCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCAGCCGCCCCGTCTGAG AAGGGAGGAGACCCTCCGCCCGGCAACCGCCCCGTCTGAGAAGTGAGGAG CCCCTCCGCCCGGCAGCCGGCCCATCTGAGAAGTGAGGAGCGTCTCCGCC CGGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCACCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCTCCGTCCGGGAGG GAGGTTGGGGGGTCAGCACCCCGCCCGGCCAGCCACCCCGTCCAGGAGGG AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCGGGGATGT GAGGGGCGCCTCTGCCCGGCCGCCTATCGTCTGGGACGTGAGGAGCCCCT CTGCCTGGCTGCCCAGTCTGGAAAGTGAGAAGCGTCTGCCCGGCCGCCAT CCCATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCACCCATTGTCTGAGA TGTGGGGAGCGCCTTTGCCCCACCGCCCCGTCTGGGATGTGAGGAGCGCC TCTGCCTGGCCGCGA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0066 a0001c0002t0002g0066	1	320	0.0031	614	c.132 others(633): Show c.1326-1399_1326-1398insTCGCGGCCAGGCAGAGGCGCTCCTCA CATCCCAGACGGGGCGGTGGGGCAAAGGCGCTCCCCACATCTCAGACAAT GGGTGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGGGATGGCGGCCGG GCAGACGCTTCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTC ACGTCCCAGACGATAGGCGGCCGGGCAGAGGCGCCCCTCACATCCCCGAC AGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCTGGAC GGGGTGGCTGGCCGGGCGGGGTGCTGACCCCCCAACCTCCCTCCCGGACG GAGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCTG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGC TCCTCACTTCTCAGATGGGCCGGCTGCCGGGCGGAGGGGCTCCTCACTTC TCAGACGGGGCGGTTGCCGGGCGGAGGGTCTCCTCCCTTCTCAGACGGGG CGGCTGGGCAGAGACGCTCCTCACCTCCCAGACGGGGG	RC3H2	ENSG00000056586.16	transcript	ENST00000357244.7	protein_coding	9/20			chr9	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(607): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGA TGGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGG AAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGTGA ATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGGAAAG GGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGA TGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19240.hp2 HG03195.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0281 a0001c0004t0001g0282 a0001c0004t0001g0281 a0001c0004t0001g0282	2	308	0.0065	614	c.-8- others(631): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC ACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCATCCAC ATTTCATCCCACCCTATCCACATCCCATCCCATCCCATCCCATCCCATCC CATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCAT CCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCA TCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTC CATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCAT CCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCT CATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCAT CCCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RIN3_chr14_92508781_92693994	92640527	C C	CGTTTGCT others(607): Show CGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGACTG TGTGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGAC TGTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCGTCAGGGGCTGCCTG ACTGCGTTTGCTGGGAGATGCCTGACTGTGTGCTCGTCAGGGGCTGCCTG ACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGCTCGTCAGGGGCTGCC TGACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGCTCGTCAGAGGCTG CCTGACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGCTCGTCAGAGGC TGCCTGACTGTGCGTTCGTCGGGGGCTGCCTGACTGTGCGTTTGCTGGGA GATGCCTGACTGTGTGTTCGTCGGGGGCTGCCTGACTGTGCGTTTGCTGG GAGATGCCTGACTGTGTGTTCGTCGAGGGCTGCCTGACTGTGTGTTCGTC GGGGGCTGCCTGACTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCGTC GAGGGCTGCCTGACTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATC GGGGGCTGCCTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18522.hp1 NA18906.hp2 others(1): Show HG02109.hp1 NA18522.hp1 NA18906.hp2 NA19043.hp2	a0013 a0014 a0013 a0014	a0013c0014 a0013c0039 a0014c0015 a0013c0014 a0013c0039 a0014c0015	a0013c0014t0001 a0013c0039t0001 a0014c0015t0001 a0013c0014t0001 a0013c0039t0001 a0014c0015t0001	a0013c0014t0001g0004 a0013c0014t0001g0190 a0013c0039t0001g0005 others(1): Show a0013c0014t0001g0004 a0013c0014t0001g0190 a0013c0039t0001g0005 a0014c0015t0001g0281	4	334	0.0120	614	c.441 others(629): Show c.441-660_441-659insTGTTTGCTGGGAGATGCCTGACTGTGTGTT CATCGGGGGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTG TTCGTCAGGGGCTGCCTGACTGCGTTTGCTGGGAGATGCCTGACTGTGTG CTCGTCAGGGGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGACTGTG TGCTCGTCAGGGGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGACTG TGTGCTCGTCAGAGGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGAC TGTGTGCTCGTCAGAGGCTGCCTGACTGTGCGTTCGTCGGGGGCTGCCTG ACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCGTCGGGGGCTGCC TGACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCGTCGAGGGCTG CCTGACTGTGTGTTCGTCGGGGGCTGCCTGACTGCGTTTGCTGGGAGATG CCTGACTGTGTGTTCGTCGAGGGCTGCCTGACTGCGTTTGCTGGGAGATG CCTGACTGTGTGTTCATCGGGGGCTGCCTGTGTGTTTGCTGGGAGATGCC TGACTGTGTGTTCATCGGGGGCTGCCTGACTGTG	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPH3AL_chr17_207389_357807	304998	A A	AGGGGGAC others(607): Show AGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGG GACAGGGCGAGAGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACA GGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGG CGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCG AGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGA GGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGG GGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGAC AGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGG GCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGC GAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAG AGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGG GGGACAGGGCGGGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp1 HG01243.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0031 a0001c0001t0022 a0001c0001t0031	a0001c0001t0022g0071 a0001c0001t0031g0067 a0001c0001t0022g0071 a0001c0001t0031g0067	2	133	0.0150	614	c.351 others(633): Show c.351+14421_351+14422insCTCCCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTC CCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCC CTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCT CCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCCCG CCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCC TGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGT CCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCC CCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCT CTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCC CGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCC CTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCT GTCCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SATL1_chrX_85087284_85248779	85088071	C C	CGTATTAA others(607): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACATACATATTTATACATATATGTATACATACATATTTATACATATATA TGTATAAATACATACATATTTATACATATATATGTATAAATACGTACATA TTTATACATATATATGTATAAATACGTACATATTTATACATATATATGTA TAAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTA TACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAA TACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACA TATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACG TACATATTTATACATATATGTATAAATACATATACATATTTATACATATA TGTATAAATACATATACATATTTATACATATATGTATAAATACATATACA TATTTATACATATATGTATAAATACATATACATATTTATACATATATGTA TAAATACATATACATATATGTATAAATACATATACATATTTATACATATA TGTATAAATACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0098 a0002c0002t0001g0098	1	232	0.0043	614	c.43 others(625): Show c.4319_*4320insATATGTATTTATACATATATGTATAAATATGTAT ATGTATTTATACATATATGTATATGTATTTATACATATATGTATAAATAT GTATATGTATTTATACATATATGTATAAATATGTATATGTATTTATACAT ATATGTATAAATATGTATATGTATTTATACATATATGTATAAATATGTAT ATGTATTTATACATATATGTATAAATATGTACGTATTTATACATATATAT GTATAAATATGTACGTATTTATACATATATATGTATAAATATGTACGTAT TTATACATATATATGTATAAATATGTACGTATTTATACATATATATGTAT AAATATGTACGTATTTATACATATATATGTATAAATATGTACGTATTTAT ACATATATATGTATAAATATGTACGTATTTATACATATATATGTATAAAT ATGTACGTATTTATACATATATATGTATAAATATGTACGTATTTATACAT ATATATGTATAAATATGTATGTATTTATACATATATATGTATAAATATGT ATGTATACATATATGTATAAATATGTATGTATTTATACATATATGTATTA ATACGTATTTATACATATATGTATTAATAC	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4212		chrX	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(607): Show GGGGGGTTGGGTGGGGGGTTGGGGGGGTTGGGTGAGGGGTTGGGGGGGTT GGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGT TTGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGG GGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGT TGGGTGAGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGG GGGTGGGGTCGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGG GGTTGGGTGAGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGA GGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGTTGGGTGAGGGGGGT GGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGAGTGAG GGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGG GGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGT TGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGT GGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	290	0.0035	614	c.464 others(627): Show c.464+91_464+92insTGGGGGGTTGGGGGGGTTGGGTGAGGGGTTGG GGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTG GGGGGGTTTGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGG TGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGT GGGGGGTTGGGTGAGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTG GGTGGGGGGTTGGGTGAGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGT TGAGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGTTGGGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTT GAGTGAGGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGT GAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGG GTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(607): Show TTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGT TGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAG GGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTGGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTG GGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGG TTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGT TGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGG GGTGGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGG GTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGG GTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	290	0.0035	614	c.464 others(627): Show c.464+91_464+92insTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGG GGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTT GGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTG GGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGG TGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGG GTTGGGTGAGGGGGGTGGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGT GAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTG AGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGG GGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGG TGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAG GGGTTGGGGTTGGGTGAGGGGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(607): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCT CCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCC CTTCCCCCTCCCCACCCCTTCCCCCCCTCCCCCCTCCCCTCCCCCCTCCC CTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCACCCCTTCCCCCTC CCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTCCCC TCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCC CCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCTC CCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCACCCCCTTCCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCCCCACCTGTTCCCCCTCCCCCTCCCCTCCC CTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	150	0.0067	614	c.77- others(631): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCTCCCCCCCA CCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCACCCCTTCCCCCTCCCCACCCCTTCCCCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCACCCCTTC CCCCTCCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCC TCCCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCC CCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCCTTCCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCCCCCACCTGTTCCCCCTCCCCCTCC CCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(607): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCTCCCCT CCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCT CCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0044 a0002c0002t0044	a0002c0002t0044g0037 a0002c0002t0044g0037	1	150	0.0067	614	c.77- others(631): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCC TCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCC TCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(607): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCTCCCCT CCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCT CCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp2 HG02572.hp2 HG02717.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0052 a0002c0002t0041 a0001c0001t0052 a0002c0002t0041	a0001c0001t0052g0013 a0002c0002t0041g0041 a0001c0001t0052g0013 a0002c0002t0041g0041	2	150	0.0133	614	c.77- others(631): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCCACCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCC TCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCC TCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(607): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTCCCC CTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCC CCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCT CCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCCCCACCCGTTCCCCCTCCCCCTCCCCTCCC CTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	150	0.0067	614	c.77- others(631): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCC CTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCC CCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTC CCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCCCCCACCCGTTCCCCCTCCCCCTCC CCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(607): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCT CCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCC CTTCCCCCTCCCCACCCCTTCCCCCCCTCCCCCCTCCCCTCCCCCCTCCC CTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCACCCCTTCCCCCTC CCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTCCCC TCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCC CCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCTC CCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCACCCCCTTCCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCCCCACCTGTTCCCCCTCCCCCTCCCCTCCC CTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	158	0.0063	614	c.22+ others(631): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCTCCCCCCCA CCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCACCCCTTCCCCCTCCCCACCCCTTCCCCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCACCCCTTC CCCCTCCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCC TCCCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCC CCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCCTTCCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCCCCCACCTGTTCCCCCTCCCCCTCC CCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(607): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCTCCCCT CCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCT CCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0065 a0002c0002t0022g0065	1	158	0.0063	614	c.22+ others(631): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCC TCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCC TCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(607): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCTCCCCT CCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCT CCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp2 HG02572.hp2 HG02717.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0038 a0002c0002t0012 a0001c0001t0038 a0002c0002t0012	a0001c0001t0038g0106 a0002c0002t0012g0140 a0001c0001t0038g0106 a0002c0002t0012g0140	2	158	0.0127	614	c.22+ others(631): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCCACCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCC TCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCC TCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(607): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTCCCC CTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCC CCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCT CCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCCCCACCCGTTCCCCCTCCCCCTCCCCTCCC CTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	158	0.0063	614	c.22+ others(631): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCC CTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCC CCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTC CCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCCCCCACCCGTTCCCCCTCCCCCTCC CCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(607): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATAATATATAA TATAAATATATTATATATAATATATAATATAAATATATTATATATAATAT ATATAATATATATATTATATATAATATATATAATATATATATTATATATA TTATATATATTATATATAATATAAATATATTATATATAATATATATAATA TAAATATATTATATATAATATATATAATATAAATATATTATATATATTAT ATATAATATAAATATATTATATATATTATATATAATATAAATATATTATA TATATTATATATAATATAAATATATTATATATATTATATATAATATAAAT ATATTATATATATTATATATAATATAAATATATTATATATATTATATATA ATATAAATATATTATATATATTATATATAATATAAATATATTATATATAT TATATATAATATAAATATATTATATATATTATATATAATATAAATATATT ATATATATTATATAT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0204 a0001c0001t0004g0204	1	346	0.0029	614	c.-70 others(631): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATATTATATATAATATATTTATATTATATATATT ATATATAATATATTTATATTATATATAATATATATAATATATATAATATA TATATTATATATATTATATATAATATATATATTATATATATTATATATAA TATATTTATATTATATATTATATATAATATATTTATATTATATATTATAT ATAATATATTTATATTTATATATAATATATATAATATATTTATATTTATG TATAATATATATAATATATTTATATTTATGTATAATATATATAATATATT TATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC45A1_chr1_8313114_8349165	8322296	A A	ATGGGCGG others(607): Show ATGGGCGGGTGGGTGGATGGATGAGTGGGTGAGTGGATGGATGCATGGAT GGATGGGTGGGTGGGTGGATGGATGAGTGGGTGGATGGATGGGTGGATGG ATGGGTGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGCGTGGGTGGGT GGATGGATGGATGGATGAGTGGGTGAGTGGATGGATGCATGGATGGATGG GTGGGTGGGTGAATGGATGGATGAGTGGGTGGATGGATGGGTGGATGAAT GGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGATGGGTGGATGGATGC ATGGGTGGGTGGATGTATGGGTGGATGGATGCGTGGGTGGGTGGATGGAT GGGTGGATGGGTGGATGGATGGATGGATAGATGGGTGTGTGGATGGATGG ATGAGTGGGTGGATGGATGGGTGGATGATGGGTAGGTGGGTGGATGGATG GGTGGATGAGTGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGAG TGGGTGGAGGGATGGGTGGATGATGGATGGGTGGGTGGATGGATGGGTGG GTGGGTGGATGGGTGGGTGGATGGATGGGTGGGTGGGTGGATGGGTGGAT GGATGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0222	1	388	0.0026	614	c.-24 others(631): Show c.-24-2007_-24-2006insGCGGGTGGGTGGATGGATGAGTGGGTGA GTGGATGGATGCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGT GGATGGATGGGTGGATGGATGGGTGGGTGGGTGGGTGGATGGATGGGTGG GTGGGTGCGTGGGTGGGTGGATGGATGGATGGATGAGTGGGTGAGTGGAT GGATGCATGGATGGATGGGTGGGTGGGTGAATGGATGGATGAGTGGGTGG ATGGATGGGTGGATGAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGAT GGATGGGTGGATGGATGCATGGGTGGGTGGATGTATGGGTGGATGGATGC GTGGGTGGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATAGAT GGGTGTGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGATGGG TAGGTGGGTGGATGGATGGGTGGATGAGTGGATGGATGGATAGATGGGTG GGTGGATGGATGGATGAGTGGGTGGAGGGATGGGTGGATGATGGATGGGT GGGTGGATGGATGGGTGGGTGGGTGGATGGGTGGGTGGATGGATGGGTGG GTGGGTGGATGGGTGGATGGATGGGTGGGTGGGTGG	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(607): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGG GGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGG AGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGG AGGGGAAGGGAGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAG GAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGG GAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAGGGGG AGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGA GGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGG AGGGAGGGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGA GGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGG AGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGGA GGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGG GGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	614	c.12 others(625): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCC CTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCC CCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCC TTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCC TCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTC CCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTC CCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCC CCTTCCCCTCCCCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCT CCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCC TCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
STKLD1_chr9_133371366_133411096	133383293	T T	TGATGATG others(607): Show TGATGATGATGGTGGAGATGGTGATGATGATGATGGTAATGATGGTGATG ATGGCGGTGATGGTGATGGTGATGATGGTGGTAATGATGGTAATGATGGT GATGATAGTGGTGATGGTGACAGTGGTGATGGGTGTGATGGTGGTAATGG TAGTGGTGGTGTGATGATGGTAATGATGGTGATGATGGTGATGGTGACGG TGGTGGTGATAGTGTGATGGTGGTAATGGTGATGGTGTGATGATGGTAAT GATGGTGATAATAGTGGTGATGGTGATGGTGGTGGTGATGGAGTGATGGT GGTAATGGTAGTGATGGTGGTGTGATGATGGTGATGGTGGTGATGGTGAT GGCAGTGATGATGGTGGTAATGTTGATGGTAATGATGGTGATGATAGTGG TGATGGTGACGGTGGAGGTCATGGAGTGATGGTGGTAACAGTGGTGGTGT GATGATGGTGATGATGGTGGTGATGGTGGTGGTGATGATGGTAATGATGG TGACGACAGTGGTGATGGTGATGATGGTAATGATGGTGATGATGGCAGTG ATGATGAAGGTGGTAATGATGGTGTTAATGATGGTGATGATAGTGGTGAT GGTGGTGGTGATGGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp2 HG02615.hp1 HG02615.hp2	a0002 a0007 a0002 a0007	a0002c0005 a0007c0033 a0002c0005 a0007c0033	a0002c0005t0001 a0007c0033t0002 a0002c0005t0001 a0007c0033t0002	a0002c0005t0001g0307 a0007c0033t0002g0262 a0002c0005t0001g0307 a0007c0033t0002g0262	2	356	0.0056	614	c.175 others(629): Show c.175-562_175-561insATGATGATGGTGGAGATGGTGATGATGATG ATGGTAATGATGGTGATGATGGCGGTGATGGTGATGGTGATGATGGTGGT AATGATGGTAATGATGGTGATGATAGTGGTGATGGTGACAGTGGTGATGG GTGTGATGGTGGTAATGGTAGTGGTGGTGTGATGATGGTAATGATGGTGA TGATGGTGATGGTGACGGTGGTGGTGATAGTGTGATGGTGGTAATGGTGA TGGTGTGATGATGGTAATGATGGTGATAATAGTGGTGATGGTGATGGTGG TGGTGATGGAGTGATGGTGGTAATGGTAGTGATGGTGGTGTGATGATGGT GATGGTGGTGATGGTGATGGCAGTGATGATGGTGGTAATGTTGATGGTAA TGATGGTGATGATAGTGGTGATGGTGACGGTGGAGGTCATGGAGTGATGG TGGTAACAGTGGTGGTGTGATGATGGTGATGATGGTGGTGATGGTGGTGG TGATGATGGTAATGATGGTGACGACAGTGGTGATGGTGATGATGGTAATG ATGGTGATGATGGCAGTGATGATGAAGGTGGTAATGATGGTGTTAATGAT GGTGATGATAGTGGTGATGGTGGTGGTGATGGAG	STKLD1	ENSG00000198870.8	transcript	ENST00000371957.4	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(607): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGAGAACGGGGTG GGGGTGGGAGCGGGGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGG GGTGGGAGAACGGGGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGG TGGGAGAACGGGGTGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCG AGGTGGGAGAACGGGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAG AGCGGGGTGGGAGAACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAG CGGGGTGGGGGAACGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCG GGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGG GTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGT GGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGG GGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGA GCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp2 HG02735.hp1 HG02735.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0001 a0001c0001t0003 a0002c0003t0001	a0001c0001t0003g0359 a0002c0003t0001g0061 a0001c0001t0003g0359 a0002c0003t0001g0061	2	364	0.0055	614	c.157 others(633): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCAC CCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCC CGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCCG TTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCCAC CCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACCC CGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACC CTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCCA CCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCT CCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCC CGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(607): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGG TGGGAGAACGGGGTGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCG AGGTGGGAGAACGGGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAG AGCGGGGTGGGAGAACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAG CGGGGTGGGGGAACGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCG GGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGG GTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGT GGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGG GGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGA GCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0308 a0001c0002t0003g0308	1	364	0.0028	614	c.157 others(633): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCAC CCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCC CGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCCG TTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCCAC CCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACCC CGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACC CTGCTCTCCCACCCCGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCA CCCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACC CCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCC CGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TCF3_chr19_1604292_1657615	1629112	A A	AGGCGGGA others(607): Show AGGCGGGAAGGGGACAGTAGAGCTCACAGGGGGTGAGGCGGGAAGGGGAC AGCAGAGCTCACAGGGGGTGGGGCGGGAAGGGGACAGTAGAGCTCACAGG GGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAG GGGACAGCAGAACTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CGGGGATGGGGCGGGAAGGGGACAGAAGAGCTCACGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACAGGGGGTGGAGCGTGAAGGGGACAGCAGAGCT CATGGGGATGGGGCGGGAAGGGGACAGAAGAGCTCACGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACAGGGGGTGGAGCGTGAAGGGGACAGCAGAG CTCATGGGGATGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCATGGGGATGGG GCGGGAAGGGGACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGC AGAGCTCACGGGTGG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0017 a0003c0006t0017	a0003c0006t0017g0298 a0003c0006t0017g0298	1	352	0.0028	614	c.299 others(631): Show c.299-1687_299-1686insCCACCCGTGAGCTCTGCTGTCCCCTTCC CGCCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCATCCCCATGA GCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTT CCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGT GAGCTCTGCTGTCCCCTTCCCGCCCCATCCCCATGAGCTCTGCTGTCCCC TTCACGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGCTCTTCTGTCCCCTTCCCGCCCCATCCCCATGAGCTCTGCTGTCC CCTTCACGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACC CCGTGAGCTCTTCTGTCCCCTTCCCGCCCCATCCCCGTGAGCTCTGCTGT CCCCTTCCCGCCTCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTA CTGTCCCCTTCCCGCCCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCCTGTGAGCTCTACTGTCCCCTTCCCGCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
THEG_chr19_356747_381026	377340	C C	CCCCGTGC others(607): Show CCCCGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCC TCTCCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTACCCC CACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCTCCCCCCGTG CCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCT GTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTACCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	370	0.0027	614	c.-13 others(625): Show c.-1371_-1370insAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGTACAGAGGGG GAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGG GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGGAGAGGCTGGGTGGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGAGAGAGGCTG GGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAG GCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGG AGAGGCTGGGTGGGGGCACAGAGGGGGGAGAGGCTGGGTGGGGGCACGGG GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGGCACGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1315		chr19	TogoVar
TMEM120B_chr12_121707752_121787068	121747445	C C	CGGGAGGC others(607): Show CGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCG GGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGC ACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0158 a0001c0001t0049g0158	1	314	0.0032	614	c.189 others(629): Show c.189-862_189-861insTGGGAGGCACTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCG GGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGC ACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar

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