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 per page.

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
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(846): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0071 a0002c0003t0002g0071	1	296	0.0034	853	c.368 others(870): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGT AGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGG GTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCC GGGTATGTAGTAAGTAAGTAAGTGGCCCGGTATGTAGTAAGTACGTGGCC CGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGG CCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGT GGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(846): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCGCTTACTTACTACATACCCGGGCCGCTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0188 a0001c0004t0006g0188	1	296	0.0034	853	c.368 others(870): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGT AGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGG GTATGTAGTAAGTAAGCGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCC GGGTATGTAGTAAGTAAGTAAGTGGCCCGGTATGTAGTAAGTACGTGGCC CGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGG CCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGT GGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCCCCC others(846): Show CCTCCCCCTCTCCCTCTCCCATCACCCCCTCTCCATCACCCTCCCTTCTC TCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCC CCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTC CCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTC CCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCT CACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCCCCCTC TTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCG CTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTT TCCCTCTTCCCCCTCCCCTTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCA TCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCCATCCCC TCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCC CCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCC CCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTT CCCCTCCCCCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTCCCCA TCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTGCCT CCCCATCTCCCCCTCCTCCCCCACCCCTCCCCACTCTCCCTCCCCCTCTC CCCCTCTCCTCCCTTCTCCCCCACCCCTCCCCCTCCCCCTCTCCCCTTCC CCCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	276	0.0036	853	c.100 others(872): Show c.1005+3279_1005+3280insTCCCTCTCCCATCACCCCCTCTCCAT CACCCTCCCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCC CTCTTCCCCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCA TCCCCCTCCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTT CCCCTTCCCCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTC TCTCCCACTTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCC TTCCCCTCCCCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCC CCTCCCCATCCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCC TCCCCTTCCCCCTTTCCCTCTTCCCCCTCCCCTTCTTCCCTCTCTCTCCT TCCCCCTCTCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCC ATCCCCCCATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCC TTCTCCCCCATTCCCCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTC TCTCCCCCTCTTCCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCC CCCTCTCCCCCCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCCTCCCCA TCTCCCCCTCCCCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCC TCCCCACTCTGCCTCCCCATCTCCCCCTCCTCCCCCACCCCTCCCCACTC TCCCTCCCCCTCTCCCCCTCTCCTCCCTTCTCCCCCACCCCTCCCCCTCC CCCTCTCCCCTTCCCCCTCTCCCCCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MEGF6_chr1_3482951_3616508	3502045	C C	CCCCCACA others(846): Show CCCCCACACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTC ACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGC GAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCG CGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGCTCC TGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACG CCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACA TGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGG CGAGTGTGCCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGC CCCCCACGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCC TCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGG GCTCCTGGCGAGTGTGCCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGC GAGTGTGCCCCCCCGGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCC CCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCCGCGCC TCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCT CCTGGCGAGTGTGCCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAG TGTG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	292	0.0034	853	c.218 others(870): Show c.2189-125_2189-124insCACACTCGCCAGGAGCCCATGTGAGGAG GCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGC ACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGGCACACTCGCC AGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCCATG TGAGGAGGCGCCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCG CGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGC ACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGGGGCACACTCGCCA GGAGCCCATGTGAGGAGGCGTGGGGGGCACACTCGCCAGGAGCCCATGTG AGGAGGCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGC GGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGGGGCAC ACTCGCCAGGAGCCCATGTGAGGAGGCGTGGGGGGCACACTCGCCAGGAG CCCATGTGAGGAGGCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGA GGAGGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGG GGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACAC TCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGCACACTCGCCAGGAGCC CATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGG GGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCA GGAGCCCATGTGAGGAGGTGTGGGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(846): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCCTCCCCTCCCTCTCTCTCCTCCC CTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCC CTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCC CTCCCCTCCTCTCTCCCTCCCTCCCCTCCCTCTCCTCCTCCCCTCCTCCT CTCCTCCCCTCCCTCCCCTCCTCTCCTCCCCTCCCTCCCCTCTCCTCCCT CCCTCCTCTCCCTCCTCTCCCTCTCCTCCCTCCTCCCCTCCCTTCCCCTC TCCTCCCCTCTCCTCTCCTCTCCCTCCCTCCCCTCTCCCTCCCCTCCCCT CCCCTCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCCCTCCCC TCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCC TCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCC TCCTCTCTCCTCCCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCC TCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTGC TCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCC TCTCCTCCGCTCCCCTCCCCTCTCCTCCACTCCTCTCCCCTCTCCTCCAC TCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCTC TCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCCCTCCCCTCCCCTCCTT TCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCCTTGCCG TCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0128 a0002c0007t0003g0128	1	318	0.0031	853	c.-49 others(864): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGG GAGGGGAGGAGAGAGAGGGGAGGGGAGGGGAGGGAGAGGGGAGGGAGGGA GAGGAGAGGAGAGGGGAGGAGAGGGGAAGGGAGGGGAGGAGGGAGGAGAG GGAGAGGAGGGAGAGGAGGGAGGGAGGAGAGGGGAGGGAGGGGAGGAGAG GAGGGGAGGGAGGGGAGGAGAGGAGGAGGGGAGGAGGAGAGGGAGGGGAG GGAGGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAG GAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGAGGGAGGGGAGGGGGAGG ACAGAGGAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(846): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAG AGGAGGGGGGAGGAGGGAGAGAAGGGAGGAGGGGGAAAAAGGGGGAGGAG GCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGT GAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGA GAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAG GAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAG AGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAGCAGTA GGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGAGGAGG AGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGGAGAGT GGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGAGGGTG AGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGAGAGGAGGG TAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGGAGGGGG AGGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	280	0.0036	853	c.641 others(868): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCTCTTTCTCTTCCT TCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTGT CCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCCC CTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATCC TTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTTC CCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCC GCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCC CTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTT TTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTTC ACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCC CTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTC CTCCCCCCTCCTCTCCCTCCTCCCCCTCCTCTCCCTCCTCCCCCCTCCTC TCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCC TTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTC TTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTC CCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(846): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGA AAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGT GGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGGG AAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAA GGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGG GAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAG GGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGA GGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAG GGAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAAGAGAGGGA GGGGGAGAGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGA GTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGA GGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAAGGGAGGGGGAGG GGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGG GTGG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0027	1	272	0.0037	853	c.250 others(868): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCATCCC TCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCT CCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCC TCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCC CTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCC CCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCTTCCCCCCACCC CTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCC TTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTC TCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCC CCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(846): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCG GCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCC CCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCA CTCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp2 HG02970.hp2 HG00639.hp2 HG01884.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	3	394	0.0076	853	c.-8+ others(866): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGG TAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGG GGTAGGGGGTGAGAGCCGGGGCCGGGGTAGGGGGTGAGAGCCGAGGCCGG GGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGC CGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGG GGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCG GGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGC CGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGT GAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(846): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATA TATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTT ATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATTTTATATATATATAAAATAAGATTTTATATATATATATAA AATAAGATTTTATATATATTTTATATATATAAAATAAGATTTTATATATA TATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATATA TAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTAT ATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATCTTAT TTTATATATATTTTATATATATATAAAATCTTATTTTATATATATATAAA ATCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	330	0.0030	853	c.-5+ others(868): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATAAGATTTT ATATATATATAAAATATATATAAAATAAGATTTTATATATATTTTATATA TATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATTTT ATATATATATAAAATCTTATTTTATATATATATAAAATCTTATTTTATAT ATATATAAAATCTTATTTTATATATATATATAAAATCTTATTTTATATAT ATAAAATATATATAAAATCTTATTTTATATATATATATAAAATCTTATTT TATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAAT ATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTAT TTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAA ATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATAAG ATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATA AAATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATA AGATTTTATATATATAAAATAAGATTTTATATATATAAAATATATATAAA GTAAGATTTTATATATATATAAAATATATATAAAGTAAGATTTCATATAT ATAAAATATAAAGTAAGATTTTATATATATATAAAATATATATAAAATAT ATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTT TATATATATATAAAATATATAAAAAATATATATCAAATATATATAAAATA AGATTTTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NOTCH1_chr9_136489433_136551048	136528393	G G	GGGGGGTG others(846): Show GGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACGGTGCGGGGG GGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGGG ATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGGC AGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGAC AGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGG GTGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGATGGGCAGGG ACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTG GGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGCGA TGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCA AGGACAGTGGGGCGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAG TGCGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTG AGGGGGGGATGGGCAGGGACGGTGAGGGGGATGGGCAGGGACAGTGGGGG GTGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCA GGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACA GTGGGGGGTGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGG GGGATGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGAT GGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGAC AGTA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0253 a0001c0001t0003g0253	1	324	0.0031	853	c.141 others(870): Show c.141-4415_141-4414insTACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCAT CCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCATCGCC CCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTG TCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCT GCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCC CTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCT CACCGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCCCATCCCCCCCACT GTCCCTGCCCATCGCCCCACTGTCCTTGCCCATCCCCCTCACTGTCCCTG CCCATCCCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCAC CCCCCACTGTCCTTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCA CTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCACTGTCCCT GCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCC CACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCTCACTGT CCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGC CCATCCCCCTCACTGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCAT CCCCCCCTCACCGTCCCTGCCCATCCCCCCCGCACCGTCCCTGCCCATCC CCCCCCACTGTCCCTGCCCACCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NXN_chr17_794310_984776	841603	C C	CTGACCAC others(846): Show CTGACCACGGAGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGAG CATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACG GGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACCCGCGAGCAGGT CCTCCCGACCATGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCA CGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTC ACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAG CAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCC GACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGC ATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGG GCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACCCGCGAGCAGGTC CTCCCGACCATGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCAC GGAGCATCTCACGCCGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCA CACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGC AGGTCCCCCCTGACCACGGAGCATCTCACACCCGCGAGCAGGTCCTCCCG ACCATGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGAGCA TCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGG CGAGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCC CCCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	242	0.0041	853	c.361 others(872): Show c.361-15526_361-15525insAGGGGGGACCTGCTCGCCCGTGTGAG ATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGT CAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGTGGACC TGCTCGCCCGTGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTG TGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCC GTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGT GGACCTGCTCGCCGGCGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCG CCCGTGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGAT GCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTC AGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCT GCTCGCCCGTGTGAGATGCTCCGTGGTCGGGGGGACCTGCTCGCCCGTGT GAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCG TGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGG GACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGC CCGTGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATG CTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCA GGGTGGACCTGCTCGCCCGTGTGAGATGCTCCATGGTCGGGAGGACCTGC TCGCGGGTGTGAGATGCTCCGTGGTCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(846): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCG GCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCC CCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCA CTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01884.hp2 HG02970.hp1 HG00639.hp2 HG01884.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	3	376	0.0080	853	c.15 others(864): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTA GGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGG TAGGGGGTGAGAGCCGGGGCCGGGGTAGGGGGTGAGAGCCGAGGCCGGGG TAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGG GGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCG GGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGG GGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCG GGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGC CGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGA GAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(846): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTG TGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGG TGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGA GTCTGGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGAGGGGGG GGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCAC TGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGG GGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGC ACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAG GGGGGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGAT GCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGG GAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGA TGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGG GAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGCGTGG GGATGCACTGAGTCTGGGGAGGGGGGGGGTGTGGGGATGCACTGAGTCTG GGGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	282	0.0036	853	c.299 others(868): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCC CCCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCCAGACTC AGTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACAC CCCCCCCTCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCAGACT CAGTGCATCCCCACGCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACAC CCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGA CTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCAC ACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCA GACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCC ACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCC CAGACTCAGTGCATCCCCACACCCCCCCCCTCCCCAGACTCAGTGCATCC CCACACCCCGCCCATCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTC CCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCA TCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCGCCC ATCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTG CATCCCCACGCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCGC CCATCCCCAGACTCAGTGCATCCCCATGCCCCGCCCTCTCCCCAGACTCA GTGCATCCCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PPP6R2_chr22_50338327_50450090	50397569	C C	CTGTCATC others(846): Show CTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGC AGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCAT CTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGT TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGG GGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTC TGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGT CCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCGGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCA GCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	340	0.0029	853	c.227 others(870): Show c.227+3441_227+3442insCCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGA GTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTC TGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCC TGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGG GGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCT CTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTG TCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTG GGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACC AGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCCTGTC ATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGG GCCTGTCCTCACCAGCCTTGTCATC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PTDSS2_chr11_445279_496399	475247	G G	GTACGGAC others(846): Show GTACGGACATATTCACGCGTTTGTGATATGGACATATTCACGCGTTTGTG TGATACGGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTG TGTGATACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTT TGTGTGATATGGACACATTCACGTGTTTGTGTGTAGGACACATTCACGTG TTTGTGTGTAGGACATATTCACGCGTTTGTGTGATACGGACATATTCACG CGTTTGTGATACGGACATATTCACACGTTTGTGTGATGCGGACATATTCA CGCGTTTGTGTGATACGGACATATTCACGCGTGTGTGATACGGCCATATT CACGCGTTTGTGATACGGACATATTCACGCGTTTGTGTGATATGGCCATA TTCACGTGTTTGTGATACGGACATATTCACACGTTTGTGTGATACGGCCA TATTCACGCGTTTGTGATACGGACATATTCACACGTTTGTGTGATGCGGA CATATTCATGCGTTTGTGATACGGACATATTCACGCGTTTGTGTGATACG GCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTGTAG GACATATTCACGTGTTTGTGTGTATGGACATATTCACGCGTTTGTGATAC AGACATTCACGCGTTTGTGTGTACAGACATATTCACGCATTTGTGTGATA CAGATATATTCACGCATTTGTGATACGGCCATATTCACACGTTTGTGATA CGGACATATTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGA TACGGACATATTCACACGTTTGTGTGATGCGGACATATTCACGCGTTTGT GTGA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	346	0.0029	853	c.367 others(870): Show c.367+1297_367+1298insTGGACATATTCACGCGTTTGTGTGATAC GGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTGTGTGAT ACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTG ATATGGACACATTCACGTGTTTGTGTGTAGGACACATTCACGTGTTTGTG TGTAGGACATATTCACGCGTTTGTGTGATACGGACATATTCACGCGTTTG TGATACGGACATATTCACACGTTTGTGTGATGCGGACATATTCACGCGTT TGTGTGATACGGACATATTCACGCGTGTGTGATACGGCCATATTCACGCG TTTGTGATACGGACATATTCACGCGTTTGTGTGATATGGCCATATTCACG TGTTTGTGATACGGACATATTCACACGTTTGTGTGATACGGCCATATTCA CGCGTTTGTGATACGGACATATTCACACGTTTGTGTGATGCGGACATATT CATGCGTTTGTGATACGGACATATTCACGCGTTTGTGTGATACGGCCATA TTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTGTAGGACATA TTCACGTGTTTGTGTGTATGGACATATTCACGCGTTTGTGATACAGACAT TCACGCGTTTGTGTGTACAGACATATTCACGCATTTGTGTGATACAGATA TATTCACGCATTTGTGATACGGCCATATTCACACGTTTGTGATACGGACA TATTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGA CATATTCACACGTTTGTGTGATGCGGACATATTCACGCGTTTGTGTGATA CGGACATATTCACGCGTTTGTGATA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	475247	G G	GTACGGAC others(846): Show GTACGGACATATTCACGCGTTTGTGATATGGACATATTCACGCGTTTGTG TGATACGGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTG TGTGATACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTT TGTGTGATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGCG TTTGTGTGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACA CGTTTGTGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATT CACGCGTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATT CACGCGTTTGTGTGATATGGCCATATTCACGTGTTTGTGATACGGACATA TTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACA TATTCACACGTTTGTGATACGGACATATTCACACGTTTGTGTGATGCGGA CATATTCATGCGTTTGTGATACGGACATATTCACGCGTTTGTGTGATACG GCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTGTAG GACATATTCACGTGTTTGTGTGTATGGACATATTCACGCGTTTGTGATAC AGACATTCACGCGTTTGTGTGTACAGACATATTCACGCATTTGTGTGATA CAGATATATTCACGCATTTGTGATACGGCCATATTCACACGTTTGTGATA CGGACATATTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGA TACGGACATATTCACACGTTTGTGTGATGCGGACATATTCACGCGTTTGT GTGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00642.hp1 others(22): Show HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG02602.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03492.hp2 NA18522.hp1 NA18747.hp2 NA18939.hp2 NA18945.hp1 NA18967.hp1 NA19002.hp1 NA19004.hp1 NA19064.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0037 others(20): Show a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0060 a0001c0001t0002g0068 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0118 a0001c0001t0002g0305 a0001c0001t0016g0104	25	346	0.0723	853	c.367 others(870): Show c.367+1297_367+1298insTGGACATATTCACGCGTTTGTGTGATAC GGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTGTGTGAT ACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTG ATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGCGTTTGTG TGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACACGTTTG TGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATTCACGCG TGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCACGCG TTTGTGTGATATGGCCATATTCACGTGTTTGTGATACGGACATATTCACA CGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCA CACGTTTGTGATACGGACATATTCACACGTTTGTGTGATGCGGACATATT CATGCGTTTGTGATACGGACATATTCACGCGTTTGTGTGATACGGCCATA TTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTGTAGGACATA TTCACGTGTTTGTGTGTATGGACATATTCACGCGTTTGTGATACAGACAT TCACGCGTTTGTGTGTACAGACATATTCACGCATTTGTGTGATACAGATA TATTCACGCATTTGTGATACGGCCATATTCACACGTTTGTGATACGGACA TATTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGA CATATTCACACGTTTGTGTGATGCGGACATATTCACGCGTTTGTGTGATA CGGACATATTCACGCGTTTGTGATA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	475247	G G	GTACGGAC others(846): Show GTACGGACATATTCACGCGTTTGTGATATGGACATATTCACGCGTTTGTG TGATACGGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTG TGTGATACGGCCATATTCACGCGTTTGTGTGATATGGACATTCACGCGTT TGTGTGATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGCG TTTGTGTGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACA CGTTTGTGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATT CACGCGTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATT CACGCGTTTGTGTGATATGGCCATATTCACGTGTTTGTGATACGGACATA TTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACA TATTCACACGTTTGTGATACGGACATATTCACACGTTTGTGTGATGCGGA CATATTCATGCGTTTGTGATACGGACATATTCACGCGTTTGTGTGATACG GCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTGTAG GACATATTCACGTGTTTGTGTGTATGGACATATTCACACGTTTGTGATAC AGACATTCACGCGTTTGTGTGTACAGACATATTCACGCATTTGTGTGATA CAGATATATTCACGCATTTGTGATACGGCCATATTCACACGTTTGTGATA CGGACATATTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGA TACGGACATATTCACACGTTTGTGTGATGCGGACATATTCACGCGTTTGT GTGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	346	0.0029	853	c.367 others(870): Show c.367+1297_367+1298insTGGACATATTCACGCGTTTGTGTGATAC GGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTGTGTGAT ACGGCCATATTCACGCGTTTGTGTGATATGGACATTCACGCGTTTGTGTG ATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGCGTTTGTG TGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACACGTTTG TGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATTCACGCG TGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCACGCG TTTGTGTGATATGGCCATATTCACGTGTTTGTGATACGGACATATTCACA CGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCA CACGTTTGTGATACGGACATATTCACACGTTTGTGTGATGCGGACATATT CATGCGTTTGTGATACGGACATATTCACGCGTTTGTGTGATACGGCCATA TTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTGTAGGACATA TTCACGTGTTTGTGTGTATGGACATATTCACACGTTTGTGATACAGACAT TCACGCGTTTGTGTGTACAGACATATTCACGCATTTGTGTGATACAGATA TATTCACGCATTTGTGATACGGCCATATTCACACGTTTGTGATACGGACA TATTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGA CATATTCACACGTTTGTGTGATGCGGACATATTCACGCGTTTGTGTGATA CGGACATATTCACGCGTTTGTGATA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
RGS17_chr6_152999459_153136282	153108701	T T	TAGAAAAT others(846): Show TAGAAAATTCCCCTACATTCCGAAAGAAGTAGACATGGGAGACTTTTCAT TTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTG TGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTC AGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATG CTTGAAGGCAGCATGCTCGTAAGAGTCATCACCAATCCCTAATCTCAAGT AATCAGGGACACAAACACTGCGGAAGGCCGCGGGGTCCTCTGCCTAGGAA AACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTAT TGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTA TCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAGAATGG ACTTTCCCAGGCCAGCTGTGGTGGCTCACGACTGTAATCCCAGCACTGTG GCAGGCCAAGGTGGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCT GACCAACACGGAGAAACCCCGTCTCTACTAAAAATAAAAAAAATTAGCTG GGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTTGTGAGCTGAGATTGCA CCATTGCACTCCAGCCTGGGCAACAAGAGGGAAACTCCATCAAAAAAAAA AAAAAAAAAAGGACTTTCTCAAAGAAAATGTATTTAAATGTCTGCACCAA TAATTCCAGCATGTGTATGAATAAATATGATATGTCCTTTACAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG01070.hp2 others(12): Show HG00280.hp1 HG00639.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01167.hp2 HG01192.hp1 HG01258.hp1 HG01433.hp2 HG02698.hp1 HG03669.hp2 HG03704.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0002t0001	a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0168 others(12): Show a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0004g0095 a0001c0001t0005g0091 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0009g0089 a0001c0001t0009g0090 a0001c0001t0009g0092 a0001c0001t0009g0093 a0001c0001t0009g0103 a0001c0002t0001g0097	15	338	0.0444	853	c.-26 others(872): Show c.-26+22422_-26+22423insTTTTTTTTTTTTGTAAAGGACATATC ATATTTATTCATACACATGCTGGAATTATTGGTGCAGACATTTAAATACA TTTTCTTTGAGAAAGTCCTTTTTTTTTTTTTTTTTTTGATGGAGTTTCCC TCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACAACAAC CTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTTTTTATTTTTA GTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTTGAACTCCTGAT CTCAGGTGATCTGCCCACCTTGGCCTGCCACAGTGCTGGGATTACAGTCG TGAGCCACCACAGCTGGCCTGGGAAAGTCCATTCTTTTTTTTTTTTTTTT TTTTTTTTTAAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACA GAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAG ATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCCGCG GCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGA TGACTCTTACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATC TTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTC AGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGC AGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTAC TTCTTTCGGAATGTAGGGGAATTTTCT	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RUFY4_chr2_218064253_218095584	218082955	C C	CTGTGTGT others(846): Show CTGTGTGTTGTGTATATGTTGTGTTGCGTTTTGTGTTGTATTGCATGTGT GTTGTGTATGTGTTGTGTGTGTATTGTGAGTGCATGTTATGCATGTGCAT TGTGTTGTGTGATTGTGATTGTGTGTGGTGTGTACGATGTGTTGTTATGT GTGCGTTATGAATGTAGGTAGTGTTGCGCTGTCTCTGTGTATGTTGTGTT GTATGTGTTGTACTGTGTGTTTTGTGTTGTGCACATATGTTGTGTTTTTG TGTTGTGTTATGTGTATGGGTTACATGTGTGTTGTGTATATATTGAGTTG TGTGTATGTGTTATGCTGTGTGTTGTGTATGTGTTGCGTTGTCTATATGT GTTGTGTGTGTGCCGTGTGTTGTATTGTGTGCGTTATAATATGTAGGGGG TGTTGTGTGCTGTGTGTTCTATTGTGTGTGTTATAATACGTAGGGGTTTT TGTGTTGTGTGTATTGTCTTGTGTGTATATGTTGTATGTGTTGTGTATAT GTGTTCTGCTGGGTGTTGTATCTGTTGTTATGTGTTGTATTGTGTGAGTG CATTGTGTGTGTTGTATTGTGTTTTGTGTTGTGTGTATGTGTTGTGTTTT GTGTGAATGTTGTTATGTGTATGGGTTACATTTGTGTTGTGTTGTGTATA TGTTGAGTTGTGTATGTGTTATATTGTGTGTGGTGTATGTGTTGTGTTGT ATGTGTTGTGTGTAGTATTGTGTGTGTTACAATGTGTGGGGAGTTGTGTG TGTTGTGTGTATTGTATATATATGTTCTGTTGGGTGTTATGTCTGTTGTG TTATATTGTATTATGTGTATGCATTTTGTGTGTGGTGTGGTGTGTGTTGT AGTG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04199.hp1 HG04115.hp2 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	2	394	0.0051	853	c.135 others(870): Show c.1356-148_1356-147insTGTGTATATGTTGTGTTGCGTTTTGTGT TGTATTGCATGTGTGTTGTGTATGTGTTGTGTGTGTATTGTGAGTGCATG TTATGCATGTGCATTGTGTTGTGTGATTGTGATTGTGTGTGGTGTGTACG ATGTGTTGTTATGTGTGCGTTATGAATGTAGGTAGTGTTGCGCTGTCTCT GTGTATGTTGTGTTGTATGTGTTGTACTGTGTGTTTTGTGTTGTGCACAT ATGTTGTGTTTTTGTGTTGTGTTATGTGTATGGGTTACATGTGTGTTGTG TATATATTGAGTTGTGTGTATGTGTTATGCTGTGTGTTGTGTATGTGTTG CGTTGTCTATATGTGTTGTGTGTGTGCCGTGTGTTGTATTGTGTGCGTTA TAATATGTAGGGGGTGTTGTGTGCTGTGTGTTCTATTGTGTGTGTTATAA TACGTAGGGGTTTTTGTGTTGTGTGTATTGTCTTGTGTGTATATGTTGTA TGTGTTGTGTATATGTGTTCTGCTGGGTGTTGTATCTGTTGTTATGTGTT GTATTGTGTGAGTGCATTGTGTGTGTTGTATTGTGTTTTGTGTTGTGTGT ATGTGTTGTGTTTTGTGTGAATGTTGTTATGTGTATGGGTTACATTTGTG TTGTGTTGTGTATATGTTGAGTTGTGTATGTGTTATATTGTGTGTGGTGT ATGTGTTGTGTTGTATGTGTTGTGTGTAGTATTGTGTGTGTTACAATGTG TGGGGAGTTGTGTGTGTTGTGTGTATTGTATATATATGTTCTGTTGGGTG TTATGTCTGTTGTGTTATATTGTATTATGTGTATGCATTTTGTGTGTGGT GTGGTGTGTGTTGTAGTGTGTGTGT	RUFY4	ENSG00000188282.13	transcript	ENST00000697321.1	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(846): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAAC AGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAG GAGGAACAGGAGGAGGAGGAGGAACAGGTGCTAGGACACTGTGGGGACGT CCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGA GAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGG AGGAACAGGAGGAGGAGGAGGAGGAACAGGTGCTAAGACACTGTGGGGAC GTCCCAGATGCCAGGGGCAGTGGAGACAGCAGGAGGAGGAGGAAGAGGAG GAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGA GGAGGAATAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGA GGCACAGGAGGAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAAGCACAGG AGGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0001 a0008c0019t0001	a0008c0019t0001g0034 a0008c0019t0001g0034	1	203	0.0049	853	c.-12 others(872): Show c.-127+9348_-127+9349insTCCTCCTGTGCTTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTC CTCCTCCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTGC TGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACC TGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTC CTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCT CCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCA CCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTC CTCCTCCTCCTCCTGTTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTT CCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCC TCGTCCTCCTGTTCTTCCTCTTCCTCCTCCTCCTCCTGTTCTTCCTCCTC CTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTCTCC ACTGCCCCGGCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTTCTC CTCCTCCTCCTCCTCCTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(846): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAACAGGTGCTAGGACACTGTGGGGACGTCCCAGATGCCAGGGG CAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGG AGGAGGAGGAGGAGGAACAGGTGCTAAGACACTGTGGGGACGTCCCAGAT GCCAGGGGCAGTGGAGACAGCAGGAGGAGGAGGAAGAGGAGGAGAAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAATA GGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAGGAAC AGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGC ACAGGAGGAGGAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAGGCACAGG AGGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0112 a0001c0011t0001g0112	1	203	0.0049	853	c.-12 others(872): Show c.-127+9348_-127+9349insTCCTCCTGTGCCTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTGCTGTTCCT CCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTC CTCCTGTTCCTCCTCCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTT CCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCC TCCTCCTGCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGT CTTAGCACCTGTTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTC CTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCT CTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCC CACAGTGTCCTAGCACCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCC TCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTC CTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTT CCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCC TCGTCCTCCTGTTCTTCCTCTTCCTCCTCCTCCTCCTGTTCTTCCTCCTC CTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTCTCC ACTGCCCCGGCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTTCTC CTCCTCCTCCTCCTCCTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(846): Show GAGGGAGGCAGGGAGAGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGA GGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGA GAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGA GGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGG GAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGG GAGAGGGAGGGTGGGAGGGAGAGGGAGGCAGGGAGAGGGAGGCAGGGAGA CAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGG GAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGG GAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGA GGGAGGGAGGGGGAGGGAGGCAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGA GAGGGAGGGAGAGGGAGGCAGGGAGAGAGGGAGGGAGAGGGAGGCAGGGA GGGAGAGGGACGCAGGGGGAGAGGTAGGGAGGGAGAGAGGGAGGGAGGGA GAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03209.hp1 HG01109.hp2 HG03209.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0091 a0001c0013t0001g0094 a0001c0013t0001g0091 a0001c0013t0001g0094	2	132	0.0152	853	c.227 others(872): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCC TCTCCCTGCCTCCCTCCCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCC TCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTC CCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTGCCTCCCTGTCTCCCTGCC TCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTG CCTCCCTCTCCCTCCCACCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCC TCTCCCTCCCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCCCTCCC TCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTC CCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCC TCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTC CCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTC TCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCC TCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTC CCTCTCCCTCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCC TCCCTCTCCCTCTCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(846): Show ATATCATATTTTATATTATAATATATAACATATATTATATTATAATATAT AACATATATTATATATTATAATATATAACATATATTATATATTATAATAT ATAACATATATTATATATTATAATATATAACATATATTATATATTATAAT ATATAACATATATTATATATTATAATATATAATATATATTATATTTTATA ATATATAATATATATTATATTTTATAATATATAATATATTATATTTTATA ATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAAT ATATAATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT TATATATTATATTTTATAATATATAATATATTTTATAATATATAATATAT TTTATAATATATATTATATTTTATAATATATATTATATTTTATAATATAT ATTATATTTTATAATATATATTATATTTTATAATATATATTATATTTTAT AATATATATTATATTTTATAATATATATTATATTTTATAATATATATTAT ATTTTATAATATATATTATATTTTATAATATATATTATATTTTATAATAT ATATTATATTTTATAATATATATTATATTTTATAATATATATTATATTTT ATAATATATATTATATTTTATAATATATATTATATTTTATAATATATATT ATATTTTATAATATATATTATATTTTATAATATATATTATATTTTATAAT ATATATTATATATTATAATATATAATATATCTTATATTTTATAATATATA ATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0153 a0001c0001t0004g0153	1	340	0.0029	853	c.17 others(872): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAAGAT ATATTATATATTATAATATATAATATATATTATAAAATATAATATATATT ATAAAATATAATATATATTATAAAATATAATATATATTATAAAATATAAT ATATATTATAAAATATAATATATATTATAAAATATAATATATATTATAAA ATATAATATATATTATAAAATATAATATATATTATAAAATATAATATATA TTATAAAATATAATATATATTATAAAATATAATATATATTATAAAATATA ATATATATTATAAAATATAATATATATTATAAAATATAATATATATTATA AAATATAATATATATTATAAAATATAATATATATTATAAAATATAATATA TATTATAAAATATAATATATATTATAAAATATATTATATATTATAAAATA TATTATATATTATAAAATATAATATATAATATATTATAAAATATAATATA TTATATATTATAAAATATAATATATTATATATTATAAAATATAATATATT ATATATTATAAAATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT ATTATAAAATATAATATATATTATATATTATAAAATATAATATATATTAT ATATTATAATATATAATATATGTTATATATTATAATATATAATATATGTT ATATATTATAATATATAATATATGTTATATATTATAATATATAATATATG TTATATATTATAATATATAATATATGTTATATATTATAATATAATATATG TTATATATTATAATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMYD3_chr1_245744347_246512279	246071781	C C	CTGTAGTT others(846): Show CTGTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCGC TGCATCGTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCA CTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACT GTGCTCACCGTGGATGCATCGTGTAGTTCTGGGGAGGGATTCGTGTGCTT TCCGCTGTGCTCACTGTGGATGCATCGTGTTAGTTCTGGGGAGGGATTCG TGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAG GGATTCGTGTGCTTTCCACTGTGCTCACTGTCGCTGCATCGTGTTAGTTC TGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTCACTGTGGATGCTTCCTG TTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATG CTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACT GTCGCTGCATCGTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGT GCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTT CCACTGTGCTCACTGTCGCTGCATCGTGTTAGTTCTGGGGAGGGATTCGT GTGCTTTCCGCTGTGCTCACTGTGGATGCATCCTGTTAGTTCTGGGGAGG GATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCT GGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGT TAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCGCTGC ATCG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0119 a0002c0004t0001g0119	1	150	0.0067	853	c.532 others(874): Show c.532-141845_532-141844insCGATGCAGCGACAGTGAGCACAGT GGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGA GCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCC ACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGA TGCATCCACAGTGAGCACAGCGGAAAGCACACGAATCCCTCCCCAGAACT AACACGATGCAGCGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCC CAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAAT CCCTCCCCAGAACTAACACGATGCAGCGACAGTGAGCACAGTGGAAAGCA CACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTG GAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAG CACAGCGGAAAGCACACGAATCCCTCCCCAGAACTAACACGATGCAGCGA CAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAA GCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTA ACACGATGCATCCACAGTGAGCACAGCGGAAAGCACACGAATCCCTCCCC AGAACTACACGATGCATCCACGGTGAGCACAGTGGAAAGCACACGAATCC CTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACA CGAATCCCTCCCCAGAACTAACACGATGCAGCGACAGTGAGCACAGTGGA AAGCACACGAATCCCTCCCCAGAACTACA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(846): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCC AGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCC CAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTG CCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGG CCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTG CCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG06807.hp2 HG03540.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0137 a0001c0001t0001g0140	2	422	0.0047	853	c.64 others(864): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAA CTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCC CCGCTGGGCCCCCCCCCAGGCAACTCCACCCCTGCTGGGCCCCCCCCCAC AGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCG CTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGG CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCC CAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGC TGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCA ACCCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGG CCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(846): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAG GAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGA GGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGA GGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGG GGGA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	322	0.0031	853	c.597 others(870): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCC TCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTC CTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCC TCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTTC CTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCT CCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTTCC TCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTC CTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
THEG_chr19_356747_381026	376746	G G	GCCCCCAC others(846): Show GCCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCT GTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCCCCGTGCCTCCACCCAGCCTCTCCCCCTGTGTGCCCCCACCCAGCC TCTCCCCCTGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCGTGTGCCC CACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTGTGTGCC CCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGT GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCGTG TGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTG TGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0001 a0003c0004t0004g0001	1	370	0.0027	853	c.-77 others(862): Show c.-777_-776insGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGG GAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGG GAGAGGCTGGGTGGGGCACACGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG GGGGGAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGGGCACA GGGGGGAGAGGCTGGGTGGGGCACACGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGC ACACGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGT GGGGCACACAGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTG GGTGGAGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAG GCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGAGGCACGGGGGGG GAGAGGCTGGGTGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		721		chr19	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(846): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAAATATATATCA TATATATTTATATATTGTATAAAAATATATATATCATATATATTTATATA TTATATAAAAATATATATATCATATATATTTATATATTATATAAAAATAT ATATATCATATATATTTATATATTATATAAAAATATATATATCATATATA TTTATATATTATATATTATATATTTATATTTTATTTTTATATTTATATTA TATATATATTTTTATATTTATATTTATATATTATTATATTATATTTATAT ATTATATAAAAATATATATCATATATATTTATATATTATATAAAAATATA TATCATATATATTTATATATTATATAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0012 a0002c0005t0012	a0002c0005t0012g0008 a0002c0005t0012g0008	1	128	0.0078	853	c.143 others(874): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTTATATATTGTATAAAAATATATATATCATATATATTTATATATTATAT AAAAATATATATATCATATATATTTATATATTATATAAAAATATATATAT CATATATATTTATATATTATATAAAAATATATATATCATATATATTTATA TATTATATATTATATATTTATATTTTATTTTTATATTTATATTATATATA TATTTTTATATTTATATTTATATATTATTATATTATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCAT ATATATTTATATATTATATAAAAATATATATCATATATATTTATATATTA AAAATATATATCATATATATTTATATATTAAAAATATATATCATATATAT TTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATA TCATATATATTTATATATTAAAAATATATATCATATATATTTATATATTA AAAATATATATCATATATATTTATATATTAAAAATATATATCATATATAT TTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATA TCATATATATTTATATATTAAAAATATATATCATATATATTTATATATTA AAAATATATATCATATATATTTATATATTAAAAATATATATCATATATAT TTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATA TCATATATATTTATATATTAAAAATATATATCATATATATTTATATATTA AAAATATATATCATATATATTTATATATT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TRIML1_chr4_188134441_188152743	188152718	G G	GGGTGAGA others(846): Show GGGTGAGAGGGAGTGAGAGTGGGGGTGAGGGGAGTGAGAGTGGGGGTGAG AAGGGGAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGGGGGTGAGA AGGGGAGTGAGAGTGGGGTGAGAGGGGGTGTGAGTGGGGGTGAGAAGGGG TGGTGTGGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGATGT GAGAGTGGGGGGTGAGAAGGGAGTGTGAGTGGGGGTGAGAAGGGGTGTGT GTGTGGGGGGGTGTGAAGGGGAGTGTGAGAGGGGGTGTGAGGGATGTGAG AGTGGGGGTGAGGGGGTGTGAGAGGGGGTGAGTTGGGGAGTGTGAGGGGG GTTGAGATGGGGTGTGAGAGTGGGGGGTGGAAGGGGGTGAGAGTGGGGGT GAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGTG AGAGGGGGTGTGAGTGTGGGGGTGAGGGGTGTGTGTGGGGGGTGTGAAGG GGGTGAGAGAGAGGGTGGAGGGAGTGAGAGTGGGGGTGAGAAGGGGTGTG AGAGTGGGGTGAGAAGGGGGTGTGGGTGGGGTGAGAGGGGTGTGAGGTGG GGGTGAGAAGGGGAGTGAGAGTGGGGTGTGGGAGGGGAGTGAGGTGGGGT GAGAGGGGGTGAGTGGGGTGAGGGGGGGTGTGGGGGTGAGAAGGGGAGTG AGAGTGGGGGTGAGGAAGGGAAGTGAGAGTGGGGTTGAGAAGGGGAGTGG AGTGGGGGTGAGAAGGGGAGTGAGTGTGGGGTGAGAAGGGGAGTGAGAGT GGGGGGTGAGAAGGGGAAGTGAGAGTGGGGGGTTGAGAAGGGGAGTGAGA GAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0018 a0003c0005t0002g0018	1	228	0.0044	853	c.53 others(864): Show c.5346_*5347insGGTGAGAGGGAGTGAGAGTGGGGGTGAGGGGAGT GAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGGGAGTG AGAGAGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAGGGGGTGTGAGT GGGGGTGAGAAGGGGTGGTGTGGGGGGTGAGAAGGGGAGTGAGAGTGGGG GTGAGAAGGGGATGTGAGAGTGGGGGGTGAGAAGGGAGTGTGAGTGGGGG TGAGAAGGGGTGTGTGTGTGGGGGGGTGTGAAGGGGAGTGTGAGAGGGGG TGTGAGGGATGTGAGAGTGGGGGTGAGGGGGTGTGAGAGGGGGTGAGTTG GGGAGTGTGAGGGGGGTTGAGATGGGGTGTGAGAGTGGGGGGTGGAAGGG GGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAG TGAGAGTGGGGTGTGAGAGGGGGTGTGAGTGTGGGGGTGAGGGGTGTGTG TGGGGGGTGTGAAGGGGGTGAGAGAGAGGGTGGAGGGAGTGAGAGTGGGG GTGAGAAGGGGTGTGAGAGTGGGGTGAGAAGGGGGTGTGGGTGGGGTGAG AGGGGTGTGAGGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGTGGGAGG GGAGTGAGGTGGGGTGAGAGGGGGTGAGTGGGGTGAGGGGGGGTGTGGGG GTGAGAAGGGGAGTGAGAGTGGGGGTGAGGAAGGGAAGTGAGAGTGGGGT TGAGAAGGGGAGTGGAGTGGGGGTGAGAAGGGGAGTGAGTGTGGGGTGAG AAGGGGAGTGAGAGTGGGGGGTGAGAAGGGGAAGTGAGAGTGGGGGGTTG AGAAGGGGAGTGAGAGAGA	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4976		chr4	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(846): Show TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATAATTATATATAATAATATAATATATATTATTATAT ATAATTATATATAATAATATAATATATATTATTATATATAATTATATATA ATAATATATATTATATTATTATATATAATTATATATAATAATATATATTA TATTATTATATATAATTATATATAATAATATAATATATATTATTATATAT TATTATATATAATAATATAATATATATTATTATATATAATTATATATAAT AATATAATATATATTATTATATATAATTATATATAATAATATAATATATA TTATTATATATAATTATATATAATAATATAATATATATTATTATATATAA TAATAATATATATATATTATTATATATAATTATATATAATAATATAATAT ATATTATTATATATAATTATATATAATAATATAAATATATTATTATATAT TATTATATATAATAATATAATATATATTATATATTATTATATATAATAAT ATAATATATATTATATATTATTATATATAATAATATAATATATATTATTA TATATTATTATATATAATAATATAATATATATTATTATATATAATAATAT AATATATATTATTATATATTATTATATATAATAATATAATATATATTATT ATATATAATAATATAATATATATTATTATATATTATTATATATAATAATA TAATATATATTATTATATATAATAATATAATATATATTATTATATATTAT TATATATAATAATATAATATATATTATTATATATTATTATATATAATAAT ATAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03831.hp2 HG03491.hp1 HG03492.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0002 a0001c0001t0001g0030	3	238	0.0126	853	c.392 others(870): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATATTATATTATTATATATAATAATATATA ATAATATATATTATATTATTATATATAATAATATATATTATATTATTATA TATAATAATATATAATAATATATATTATATTATTATATATAATAATATAT ATTATATTATTATATATAATAATATATAATAATATATATTATATTATTAT ATATAATAATATATAATATATATTATATTATTATATATAATAATATATAA TATATATTATATTATTATATATAATAATATATAATAATATATTTATATTA TTATATATAATTATATATAATAATATATATTATATTATTATATATAATTA TATATAATAATATATATATATTATTATTATATATAATAATATATATTATA TTATTATATATAATTATATATAATAATATATATTATATTATTATATATAA TTATATATAATAATATATATTATATTATTATATATAATTATATATAATAA TATATATTATATTATTATATATAATAATATATAATAATATATATTATATT ATTATATATAATTATATATAATAATATAATATATATTATTATATATAATT ATATATAATAATATAATATATATTATTATATATAATTATATATAATAATA TATATTATATTATTATATATAATTATATATAATAATATATATTATATTAT TATATATAATTATATATAATAATATATATTATATTATTATATATAATAAT ATATAATAATATATATTATATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(846): Show TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATAATTATATATAATAATATAATATATATTATTATAT ATTATTATATATAATAATATAATATATATTATTATATATTATTATATATA ATAATATATATTATATTATTATATATAATTATATATAATAATATATATTA TATTATTATATATAATTATATATAATAATATATATTATATTATTATATAT AATTATATATAATAATATAATATATATTATTATATATTATTATATATAAT AATATAATATATATTATTATATATAATTATATATAATAATATAATATATA TTATTATATATAATTATATATAATAATATAATATATATTATTATATATAA TAATAATATATATATATTATTATATATAATTATATATAATAATATAATAT ATATTATTATATATAATTATATATAATAATATAAATATATTATTATATAT TATTATATATAATAATATAATATATATTATATATTATTATATATAATAAT ATAATATATATTATATATTATTATATATAATAATATAATATATATTATTA TATATTATTATATATAATAATATAATATATATTATTATATATAATAATAT AATATATATTATTATATATTATTATATATAATAATATAATATATATTATT ATATATAATAATATAATATATATTATTATATATTATTATATATAATAATA TAATATATATTATTATATATAATAATATAATATATATTATTATATATTAT TATATATAATAATATAATATATATTATTATATATTATTATATATAATAAT ATAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	238	0.0042	853	c.392 others(870): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATATTATATTATTATATATAATAATATATA ATAATATATATTATATTATTATATATAATAATATATATTATATTATTATA TATAATAATATATAATAATATATATTATATTATTATATATAATAATATAT ATTATATTATTATATATAATAATATATAATAATATATATTATATTATTAT ATATAATAATATATAATATATATTATATTATTATATATAATAATATATAA TATATATTATATTATTATATATAATAATATATAATAATATATTTATATTA TTATATATAATTATATATAATAATATATATTATATTATTATATATAATTA TATATAATAATATATATATATTATTATTATATATAATAATATATATTATA TTATTATATATAATTATATATAATAATATATATTATATTATTATATATAA TTATATATAATAATATATATTATATTATTATATATAATAATATATAATAA TATATATTATATTATTATATATAATTATATATAATAATATAATATATATT ATTATATATAATTATATATAATAATATAATATATATTATTATATATAATT ATATATAATAATATAATATATATTATTATATATAATAATATATAATAATA TATATTATATTATTATATATAATAATATATAATAATATATATTATATTAT TATATATAATTATATATAATAATATATATTATATTATTATATATAATAAT ATATAATAATATATATTATATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
ZNF236_chr18_76817557_76977901	76967266	T T	TATTTGGT others(846): Show TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATG TGATTCGTGAGATGTGTTATTGGGTTGTTGGAGGTGATGTGATTCGTGAG ATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTT GTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTGGTTGTTGGAGGTGG TGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTGTGA GATTTCTGATTTGGTTGTTGGAGGTGGTGTGATCTGTAAGATTTCTGATT TGGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGACTTGGTTGTTGGAAG TGGTGTGATCTGTGACATTTGTGATTTGGTTGTTGGAGGTGGTGTGATCT GTGAGATTTGTGATTTAGTTGTTGGAGGTGATGTGATCTGTGAGGTTTGT GATTTGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGATTTTGTTGTTGG AGGTGGTGTGCTCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGT GATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGA GATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGA TTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTT GGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGT GGTGTGCTCTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTG TGAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19030.hp1 NA19030.hp2 HG03098.hp1 NA19030.hp1 NA19030.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0001c0039 a0009c0026 a0001c0002 a0001c0039 a0009c0026	a0001c0002t0018 a0001c0039t0029 a0009c0026t0018 a0001c0002t0018 a0001c0039t0029 a0009c0026t0018	a0001c0002t0018g0136 a0001c0039t0029g0320 a0009c0026t0018g0156 a0001c0002t0018g0136 a0001c0039t0029g0320 a0009c0026t0018g0156	3	346	0.0087	853	c.542 others(870): Show c.5420-944_5420-943insGTTGTTGGAGGTGATGTGATTCGTGAGA TGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTG GTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTGGGTTGTTGGAGG TGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCT GTGACATTTGTGATTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATT TGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAG GTGGTGTGATCTGTGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGATC TGTAAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTG ACTTGGTTGTTGGAAGTGGTGTGATCTGTGACATTTGTGATTTGGTTGTT GGAGGTGGTGTGATCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGATGT GATCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGTTAT GTGATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTGGTG TTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTG GTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGA TCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGA TTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATT TGGTGTTGGAGGTGGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTGGAG GTGGTGGTGTGATCTGTGAGATTTG	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	30/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF236_chr18_76817557_76977901	76967266	T T	TATTTGGT others(846): Show TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATG TGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAG ATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTT GTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTGGTTGTTGGAGG TGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTG TGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGATCTGTAAGATTTCTG ATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGACTTGGTTGTTGG AAGTGGTGTGATCTGTGACATTTGTGATTTGGTTGTTGGAGGTGGTGTGA TCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGATGTGATCTGTGAGGTT TGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGATTTTGTTGT TGGAGGTGTGCTCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGT GATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGA GATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGA TTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTT GGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGT GGTGTGCTCTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTG TGAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0006 a0001c0016t0006	a0001c0016t0006g0162 a0001c0016t0006g0162	1	346	0.0029	853	c.542 others(870): Show c.5420-944_5420-943insGTTGTTGGAGGTGATGTGATTCGTGAGA TGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTG GTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGG TGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCT GTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTG ATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTTGTTGTTG GAGGTGGTGTGATCTGTGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTG ATCTGTAAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTAT GTGACTTGGTTGTTGGAAGTGGTGTGATCTGTGACATTTGTGATTTGGTT GTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGA TGTGATCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGT TATGTGATTTTGTTGTTGGAGGTGTGCTCTGTGAGATTTGTGATTTGGTG TTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTG GTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGA TCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGA TTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATT TGGTGTTGGAGGTGGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTGGAG GTGGTGGTGTGATCTGTGAGATTTG	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	30/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ABCB11_chr2_168915781_169036324	168975298	T T	TAGATAAA others(847): Show TAGATAAATATATAAATATTTATATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATATATAAATATATAAATATTTATATATTTATAGATAAATATA TATATATAAATATTTATATATTTATAGATAAATATATAAATATATAAATA TTTATATATTTATAGATAAATATATAAATATATAAATATTTATAGATAAA TATATAAATATATAAATATTTATATATTTATAGATAAATATATAAATATT TATATATTTATCGATAAATATATAAATATTTATATATTTATAGATAAATA TATAA	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0210 a0001c0002t0002g0210	1	306	0.0033	854	c.130 others(873): Show c.1308+1278_1308+1279insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATCGATAAATATATAAATATTTATATATTTATCTAT AAATATATAAATATTTATATATTTATATATTTATCTATAAATATTTATAT ATTTATATATTTATCTATAAATATATAAATATTTATATATTTATATATTT ATCTATAAATATATAAATATTTATATATATATATTTATCTATAAATATAT AAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATATATTTATCTAT AAATATATAAATATTTATATATTTATCT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975298	T T	TAGATAAA others(847): Show TAGATAAATATATAAATATTTATATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATATATAAATATATAAATATTTATATATTTATAGATAAATATA TATATATAAATATTTATATATTTATAGATAAATATATAAATATATAAATA TTTATATATTTATAGATAAATATATAAATATATAAATATTTATAGATAAA TATATAAATATATAAATATTTATATATTTATAGATAAATATATAAATATT TATATATTTATCTATAAATATATAAATATTTATATATTTATAGATAAATA TATAA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	306	0.0033	854	c.130 others(873): Show c.1308+1278_1308+1279insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATAGATAAATATATAAATATTTATATATTTATCTAT AAATATATAAATATTTATATATTTATATATTTATCTATAAATATTTATAT ATTTATATATTTATCTATAAATATATAAATATTTATATATTTATATATTT ATCTATAAATATATAAATATTTATATATATATATTTATCTATAAATATAT AAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATATAAATATTTATATATTTATCT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975298	T T	TAGATAAA others(847): Show TAGATAAATATATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATATATAAATATATAAATATTTATATATTTATAGATAAATATA TATATATAAATATTTATATATTTATAGATAAATATATAAATATATAAATA TTTATATATTTATAGATAAATATATAAATATATAAATATTTATAGATAAA TATATAAATATATAAATATTTATATATTTATAGATAAATATATAAATATT TATATATTTATCTATAAATATATAAATATTTATATATTTATAGATAAATA TATAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA19070.hp1 NA18994.hp2 NA19070.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0040 a0001c0001 a0013c0040	a0001c0001t0001 a0013c0040t0001 a0001c0001t0001 a0013c0040t0001	a0001c0001t0001g0241 a0013c0040t0001g0259 a0001c0001t0001g0241 a0013c0040t0001g0259	2	306	0.0065	854	c.130 others(873): Show c.1308+1278_1308+1279insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATAGATAAATATATAAATATTTATATATTTATCTAT AAATATATAAATATTTATATATTTATATATTTATCTATAAATATTTATAT ATTTATATATTTATCTATAAATATATAAATATTTATATATTTATATATTT ATCTATAAATATATAAATATTTATATATATATATTTATCTATAAATATAT AAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATATATTTATCT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975298	T T	TAGATAAA others(847): Show TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATATATAAATATATAAATATTTATATATTTATAGATAAATATA TATATATAAATATTTATATATTTATAGATAAATATATAAATATATAAATA TTTATATATTTATAGATAAATATATAAATATATAAATATTTATAGATAAA TATATAAATATATAAATATTTATATATTTATAGATAAATATATAAATATT TATATATTTATCTATAAATATATAAATATTTATATATTTATAGATAAATA TATAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0122 a0001c0001t0013g0122	1	306	0.0033	854	c.130 others(873): Show c.1308+1278_1308+1279insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATAGATAAATATATAAATATTTATATATTTATCTAT AAATATATAAATATTTATATATTTATATATTTATCTATAAATATTTATAT ATTTATATATTTATCTATAAATATATAAATATTTATATATTTATATATTT ATCTATAAATATATAAATATTTATATATATATATTTATCTATAAATATAT AAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ANKRD11_chr16_89262630_89495561	89398192	A A	ACTGTGAA others(847): Show ACTGTGAAACAGGTGAAGATTACCTGTGACCTCAGCACTCTGGGAGGCTG ACATGAGGGACGCTGTGAAACAGATGAAGATTACCTGTGATCTCAGTGCT CTGGGAGGCTGACATGAGGGACGCTGTGAAACAGGTGAAGATTACCTGTG ACCTCAGCACTCTGGGAGGCTGACATGAGGGACACTGTGAAACAGGTGAA GATTACCTGTGACCTCAGCACTCTGGGAGGCTGACATGAGGGACGCTGTG AAACAGATGAAGATTACCTGTGATCTCAGTGCTCTGGGAGGCTGACATGA GGGACACTGTGAAACAGCTGAAGATTACCTGTGACCTCAGCACTCTGGGA GGCTGACATGAGGGACACTGTGAAACAGGTGAAGATTACCTGTGACCTCA GCACTCTGGGAGGCTGACATGAGGGACGCTGTGAAACAGATGAAGATTAC CTGTGACCTCAGCACTCTGGGAGGCTGACATGAGGGACACTGTGAAACAG GTGAAGATTACCTGTGACCTCAGCACTCTGGGAGGCTGACATGAGGGACA CTGTGAAACAGGTGAAGATTACCTGTAACCTCAGCGCTCTGGGAGGCTGA CATGAGGGACGCTGTGAAACAGATGAAGATTACCTGTGATCTCAGCACTC TGGGAGGCTGACATGAGGGACACTGTGAAACAGGTGAAGATTACCTGTGA CCTCAGCACTCTGGGAGGCTGACATGAGGGACGCTGTGAAACAGGTGAAG ATTACCTGTGACCTCAGCACTCTGGGAGGCTGACATGAGGGACGCTGTGA AACAGATGAAGATTACCTGTGACCTCAGCACTCTGGGAGGCTGACATGAG GGACG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0225 a0001c0006t0001g0225	1	310	0.0032	854	c.-60 others(873): Show c.-60+20091_-60+20092insCGTCCCTCATGTCAGCCTCCCAGAGT GCTGAGGTCACAGGTAATCTTCATCTGTTTCACAGCGTCCCTCATGTCAG CCTCCCAGAGTGCTGAGGTCACAGGTAATCTTCACCTGTTTCACAGCGTC CCTCATGTCAGCCTCCCAGAGTGCTGAGGTCACAGGTAATCTTCACCTGT TTCACAGTGTCCCTCATGTCAGCCTCCCAGAGTGCTGAGATCACAGGTAA TCTTCATCTGTTTCACAGCGTCCCTCATGTCAGCCTCCCAGAGCGCTGAG GTTACAGGTAATCTTCACCTGTTTCACAGTGTCCCTCATGTCAGCCTCCC AGAGTGCTGAGGTCACAGGTAATCTTCACCTGTTTCACAGTGTCCCTCAT GTCAGCCTCCCAGAGTGCTGAGGTCACAGGTAATCTTCATCTGTTTCACA GCGTCCCTCATGTCAGCCTCCCAGAGTGCTGAGGTCACAGGTAATCTTCA CCTGTTTCACAGTGTCCCTCATGTCAGCCTCCCAGAGTGCTGAGGTCACA GGTAATCTTCAGCTGTTTCACAGTGTCCCTCATGTCAGCCTCCCAGAGCA CTGAGATCACAGGTAATCTTCATCTGTTTCACAGCGTCCCTCATGTCAGC CTCCCAGAGTGCTGAGGTCACAGGTAATCTTCACCTGTTTCACAGTGTCC CTCATGTCAGCCTCCCAGAGTGCTGAGGTCACAGGTAATCTTCACCTGTT TCACAGCGTCCCTCATGTCAGCCTCCCAGAGCACTGAGATCACAGGTAAT CTTCATCTGTTTCACAGCGTCCCTCATGTCAGCCTCCCAGAGTGCTGAGG TCACAGGTAATCTTCACCTGTTTCACAG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(847): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGAAAGAGGGGGGAGGGGG AAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGAAGG GGAGGAGGAAGGGGAGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGAGGA AGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAA GGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAG GAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGG GGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGG GAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAA GGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGG GGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGAAGACGGAG AGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGA AGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAA GGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGG GGAAGGGGCAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGG AAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGG GGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	300	0.0033	854	c.-70 others(863): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGAAAG AGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAG GGGGAGGGGAAGGGGAGGAGGAAGGGGAGAAGGAGGAGGAGGAAGTGGGG AAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGG AGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGG GGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAG GGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGG GGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGA AGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAA GGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAG GAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGA AGGGAAGACGGAGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGA AGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAA GGAGGAGGAGGAAGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGA GGAGGAGGAAGGGGGAAGGGGCAGTGGGAGGAGGAAGGGGAAGAAGGAGG AGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGG GAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
C2CD4C_chr19_400445_414147	404604	A A	AGGGGGGG others(847): Show AGGGGGGGGACGGGGCCCTGTCCTGAGGGGTCTGAGGGGGGGACGGGGCC CTGTCCTGAGGGGTGTGAGGGGGAGACGGGTCCTGCCCCGAGGGGTGTGA GGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGCCCTGT CCTGAGGGGTGTGAGGGGGGGGGACGGGGCCCTGTCCTGAGGGGTCTGAG GGGGGGACGGGGCCCTGTCCTGAGGGGTGTGAGGGGGGGACGGGTCCTGC CCCGAGGGGTGTGAGGGGGGGGACGGGGCCCTGTCCTGAGGGGTCTGAGG GGGGGACGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGTCCTGCC CCGAGGGGTGTGAGGGGGGGGGACGGGGCCCTGTCCTGAGGGGTCTGAGG GGGGGACGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGTCCTGCC CCGAGGGGTGTGAGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGG GGGGGACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGGGACGGGTCCTGCC CCGAGGGGTGTGGGGGGGGGACGGGGTCCTGTCCCGAGGGGTGTGGGGGG GGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCC TGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGA ACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGACGGGGTCCTGCCCTGA GGGGTGTGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGAACGG GGTCCTGCCCTGAGGGGTGTGGGGGGGGACGGGGTCCTGCCCCGAGGGGT GTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0127 a0001c0001t0127	a0001c0001t0127g0101 a0001c0001t0127g0101	1	322	0.0031	854	c.24 others(865): Show c.2491_*2492insCTCACACCCCTCGGGGCAGGACCCCGTCCCCCCC CACACCCCTCAGGGCAGGACCCCGTTCCCCCCACACCCCTCAGGGCAGGA CCCCGTTCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCTCCACA CCCCTCAGGGCAGGACCCCGTTCCCCCCTCACACCCCTCAGGGCAGGACC CCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCCCACACCC CTCAGGGCAGGACCCCGTCCCCCCCCCACACCCCTCGGGACAGGACCCCG TCCCCCCCCCACACCCCTCGGGGCAGGACCCGTCCCCCCCTCAGACCCCT CAGGGCAGGACCCCGTCCCCCCCCTCACACCCCTCAGGGCAGGACCCCGT CCCCCCCCTCACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCACACCCC TCGGGGCAGGACCCGTCCCCCCCTCAGACCCCTCAGGACAGGGCCCCGTC CCCCCCCCTCACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCACACCCC TCGGGGCAGGACCCGTCCCCCCCTCAGACCCCTCAGGACAGGGCCCCGTC CCCCCCCTCACACCCCTCGGGGCAGGACCCGTCCCCCCCTCACACCCCTC AGGACAGGGCCCCGTCCCCCCCTCAGACCCCTCAGGACAGGGCCCCGTCC CCCCCCCTCACACCCCTCAGGACAGGGCCCCGTCCCCCCCACACCCCTCA GGGCAGGACCCCGTCCCCCCCTCACACCCCTCGGGGCAGGACCCGTCTCC CCCTCACACCCCTCAGGACAGGGCCCCGTCCCCCCCTCAGACCCCTCAGG ACAGGGCCCCGTCCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		840		chr19	TogoVar
CAPN11_chr6_44153820_44189401	44182041	C C	CCACACTC others(847): Show CCACACTCACACACACATACACACTCACATACAGACACAACCACACCACA CTCACACACACATACACACTCACATACAGACACAACCACACCACACTCAC ACACACATACACACTCACATACAGACACAACCACACCACACTCACACACA CACACACTCACATACAGACACAACCACACCACACACACACACACATACAG ACACAACCACACCACACACACACATACACACTCACATACAGACACAACCA CACCACACACACACACATACACACTCACATACAGACACAACCACACCACA CTCACACACACCCATACACACTCACATACAGACACAACCACACCACACAC ACACACACACATACAGACACAACCACACCACACACACACACACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACACACTCACAT ACAGACACAACCACACCACACTCACACACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACACACTCACATACAGACACAA CCACACCACACTCACACACACACTCACATACAGACACAACCACACCACAC TCACACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACATACACACTCACATACAGACACAACCACACCACACACACACATAC ACACTCACATACAGACACAACCACACCACACACACACACACACTCACATA CAGACACAACCACACCACACTCACACACACACACTCACATACAGACACAA CCACACCACACTCACACACACACACTCACATACAGACACAACCACACCAC ACACA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0374 a0008c0008t0002g0374	1	460	0.0022	854	c.193 others(871): Show c.1938+726_1938+727insTCACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACATACACACTCACATACAGACACA ACCACACCACACTCACACACACATACACACTCACATACAGACACAACCAC ACCACACTCACACACACACACACTCACATACAGACACAACCACACCACAC ACACACACACATACAGACACAACCACACCACACACACACATACACACTCA CATACAGACACAACCACACCACACACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACCCATACACACTCACATACAGACA CAACCACACCACACACACACACACACATACAGACACAACCACACCACACA CACACACACACATACACACTCACATACAGACACAACCACACCACACTCAC ACACACACACTCACATACAGACACAACCACACCACACTCACACACACACA CACACTCACATACAGACACAACCACACCACACTCACACACACACACACAC TCACATACAGACACAACCACACCACACTCACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACACTCACATACAGACACAACC ACACCACACTCACACACACACATACACACTCACATACAGACACAACCACA CCACACACACACATACACACTCACATACAGACACAACCACACCACACACA CACACACACTCACATACAGACACAACCACACCACACTCACACACACACAC TCACATACAGACACAACCACACCACACTCACACACACACACTCACATACA GACACAACCACACCACACACACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDH4_chr20_61247261_61945617	61331582	C C	CCCCAGGC others(847): Show CCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCTCAGATCTACCTCCTGC CCCGGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGCCCCAGA CCCACCTCCTGACCCGACCACCTCCCCCAGGCTCACCTCCTGCCCCGGCC ACCTGCCCTAGAGCCACCTCCTGCCCCGGCCACCTGCCTCAGGCCCACCT CCTGCCCCGGCCACCTGCCCCAGATCTACCTCCTGACCCGACCACCTCCC CCAGGCTCACCTCCTGCCCTGGCCACCTGCCCCAGACCCACCTCCTGCCC CGGCCACCTGCCCCAGAGCCACCTCCTGACCCGACCACCTCCCCCAGGCT CACCTCCTGCCCCGACCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCAC CTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCC TGCCCCAGACCCACCTCCTGCCTCAGCCACCTGCCCCAGACTCACCTCCT GCCCCGGCCACCTGCCCCAGAGCCACCTCCTGCCCCGGCCACCTACCCCA GACCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGG CCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCAC CTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTG CCCCAGGCCCACCTCCTGCCCCCGCCAACTGCCCCAGGTCTACCTCCTGC CCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGTCACCTGTCCCAGC CCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCA CCTGT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18952.hp2 NA18960.hp1 NA18960.hp2	a0002 a0005 a0002 a0005	a0002c0008 a0002c0015 a0005c0025 a0002c0008 a0002c0015 a0005c0025	a0002c0008t0025 a0002c0015t0007 a0005c0025t0011 a0002c0008t0025 a0002c0015t0007 a0005c0025t0011	a0002c0008t0025g0024 a0002c0015t0007g0025 a0005c0025t0011g0099 a0002c0008t0025g0024 a0002c0015t0007g0025 a0005c0025t0011g0099	3	106	0.0283	854	c.169 others(873): Show c.169+76677_169+76678insTCAGATCTACCTCCTGCCCCGGCCAC CTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGCCCCAGACCCACCTCC TGACCCGACCACCTCCCCCAGGCTCACCTCCTGCCCCGGCCACCTGCCCT AGAGCCACCTCCTGCCCCGGCCACCTGCCTCAGGCCCACCTCCTGCCCCG GCCACCTGCCCCAGATCTACCTCCTGACCCGACCACCTCCCCCAGGCTCA CCTCCTGCCCTGGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCT GCCCCAGAGCCACCTCCTGACCCGACCACCTCCCCCAGGCTCACCTCCTG CCCCGACCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAG GCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCAGA CCCACCTCCTGCCTCAGCCACCTGCCCCAGACTCACCTCCTGCCCCGGCC ACCTGCCCCAGAGCCACCTCCTGCCCCGGCCACCTACCCCAGACCCACCT CCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCC CCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCC CGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCC CACCTCCTGCCCCCGCCAACTGCCCCAGGTCTACCTCCTGCCCCGGCCAC CTGCCCCAGGCCCACCTCCTGCCCCGGTCACCTGTCCCAGCCCACCTCCT GCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGTCCCA GGCCCACCTCCTGCCCCGGCCACCTGCC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGTGG others(847): Show GGGAGTGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGG AGGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGAGCTGGGGAGG GGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGA GGAGGGGGAGCTGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAG GGGAGCAGGGGAGGGGGGAGGAGGGGAGCTGGGAGGGGGGAGAGGGGAGC TGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGAGCAGG GAGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGG GGGGAGGAGGGGGAGCAGGGGAGGGGAGGAGGGGGAGCAGGGGAGGGGGG AGGAGGGGAGCTGGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGAGGA GGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGGGGGGAGGAGGGGGAGCAG GGGAGGGGGGAGGAGGGGGAGCTGGGGAGGAGGAGGAGGGGAGCAGGGGA GGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGG GGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGG AGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGA GGGGGAGCTGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCA GGGGAGGGGGGAGGGAGGGGGAGCAGGGGAGGGGGGAGAAGAGGAGGGGG GAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0105 a0001c0001t0013g0105	1	168	0.0060	854	c.-26 others(863): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTGCTCC CCCTCCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCC CCTCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCC CTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCT CCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCC CTGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCTCCTCCTCCTCCCCAGCT CCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCCTCCTC CCCCCTCCCCTGCTCCCCCTCCTCCCCTCCCCTGCTCCCCCTCCTCCCCC CTCCCCCAGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCTCC CCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCC TGCTCCCCTCCTCCCCCTCCCTGCTCCCCTCCTCCCCCCTCCCCAGCTCC CCCTCCTCCCCCCTCCCCAGCTCCCCTCTCCCCCCTCCCAGCTCCCCTCC TCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCC CCCTCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCC TCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTC CCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCTCCTCCCCCCTCCCCA GCTCCCCTCCTCCCCCCCTCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCT CCCCCTCCTCCCCACTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
COL18A1_chr21_45400165_45518720	45500731	G G	GGTGTGTG others(847): Show GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGG GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTCGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGATT GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTTTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02922.hp2 HG00733.hp2 HG02922.hp2	a0003 a0026 a0003 a0026	a0003c0046 a0026c0044 a0003c0046 a0026c0044	a0003c0046t0001 a0026c0044t0001 a0003c0046t0001 a0026c0044t0001	a0003c0046t0001g0002 a0026c0044t0001g0037 a0003c0046t0001g0002 a0026c0044t0001g0037	2	292	0.0069	854	c.268 others(873): Show c.2683+3076_2683+3077insGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTCGTTTGGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGGGTGTGGTTTGGTGTGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG GTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGATTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT GTTTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL21A1_chr6_56051590_56252580	56098108	T T	TATATAAA others(847): Show TATATAAATATATATAAATATATATAAATATATAAATATATATAAATATA TATAAATATAAAAATATATATAAATATATAAATATATATAAATATATATG TAAATATATAAATATATATAAATATATATGTAAATATATAAATATATATA AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTATAAATATATATGTAAATATATATAAATATAAATATATTTATAAATA TATAAATATAAATATATTTATAAATATATAAATATATATAAAAATATATA TAAATATATAAAAAAATATAAATATATATAAATATATAAATATATGTAAA TATATATAAATATATATATAAATATATATAAATATATATAAATATATATA AATATATAACTATACAAATAAATATATATAAATATATAAATATATAAAAA TATATATAAATATATATGTAAATATATAAATATATATATAAATATATATA AATATATATAAGTATATAAATATATATAAATATATATAAGTATATAAATA TATATATAAATATATATAAGTATATAAATATATATATAAATATATATAAG TATATAAATATATATAAATATATATAAGTATATAAATATATATATAAATA TATATAAGTATATATAAATATATATAAATATATATAAGTATATATAAATA TATATAAATATATATAAGTATATATAAATATATATAAATATATATAAGTA TATATAAATATATATAAATATATATAAGTATATATAAATATATATAAATA TATATAAATATATGCAAATATATATAAATATATATATAAATAGATATATA AATAG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0053 a0001c0002t0004g0053	1	264	0.0038	854	c.181 others(873): Show c.1812+3363_1812+3364insCTATTTATATATCTATTTATATATAT ATTTATATATATTTGCATATATTTATATATATTTATATATATTTATATAT ACTTATATATATTTATATATATTTATATATACTTATATATATTTATATAT ATTTATATATACTTATATATATTTATATATATTTATATATACTTATATAT ATTTATATATATTTATATATACTTATATATATTTATATATATATTTATAT ACTTATATATATTTATATATATTTATATACTTATATATATTTATATATAT ATTTATATACTTATATATATTTATATATATATTTATATACTTATATATAT TTATATATATTTATATACTTATATATATTTATATATATTTATATATATAT TTATATATTTACATATATATTTATATATATTTTTATATATTTATATATTT ATATATATTTATTTGTATAGTTATATATTTATATATATTTATATATATTT ATATATATTTATATATATATTTATATATATTTACATATATTTATATATTT ATATATATTTATATTTTTTTATATATTTATATATATTTTTATATATATTT ATATATTTATAAATATATTTATATTTATATATTTATAAATATATTTATAT TTATATATATTTACATATATATTTATAATTACATATTTATATATATATTT ATATTTATATATATTTATATATATTTATTTATATATATTTATATATTTAC ATATATATTTATATATATTTATATATTTACATATATATTTATATATATTT ATATATTTATATATATTTTTATATTTATATATATTTATATATATTTATAT ATTTATATATATTTATATATATTTATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(847): Show CAGTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGAT ATGGGGGTGGGGACAGGGTGCAGTTTATAGATGATATGGGGGTGGGGACA GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATA GATAATATGGGGGTGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCG GGGCGGGGGTGCAGTTGATAGATGATATGGGGGTGGGGACAGGGTGCAGT TTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGG TGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATA ATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGG GCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCTT ATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATATGGAG GCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGGGCGGGGGTGT AGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGATAA TATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGGGGGCGGG GTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGAGGGTGCAAT TTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATATGG GGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGTAGGG GGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp1 HG02896.hp1 HG02622.hp1 HG02886.hp1 HG02896.hp1	a0001 a0001	a0001c0006 a0001c0018 a0001c0049 a0001c0006 a0001c0018 a0001c0049	a0001c0006t0004 a0001c0018t0008 a0001c0049t0003 a0001c0006t0004 a0001c0018t0008 a0001c0049t0003	a0001c0006t0004g0184 a0001c0018t0008g0182 a0001c0049t0003g0183 a0001c0006t0004g0184 a0001c0018t0008g0182 a0001c0049t0003g0183	3	272	0.0110	854	c.109 others(873): Show c.109+14824_109+14825insGATATGGGGGTGGGGAAGGGATGCAG TTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATGATATG GGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGG GTGCAGTTTATAGATAATATGGGGGTGGGGCGGGGGTGCAGTTTATAGAT AATATGGGGGCGGGGCGGGGGTGCAGTTGATAGATGATATGGGGGTGGGG ACAGGGTGCAGTTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTA TAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGG GCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCG GGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATA GATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCG GGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCA GTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAAT ATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGC AGAGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTG TAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGG GGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(847): Show CAGTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGAT ATGGGGGTGGGGACAGGGTGCAGTTTATAGATGATATGGGGGTGGGGACA GGGTGCAGTTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAG ATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCG GGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGT TGATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATGATATGG GGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGG TGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATA ATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGG GCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCTT ATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATATGGAG GCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGGGCGGGGGTGT AGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGATAA TATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGGGGGCGGG GTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGAGGGTGCAAT TTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATATGG GGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGTAGGG GGTGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0002 a0001c0007t0006g0002	1	272	0.0037	854	c.109 others(873): Show c.109+14824_109+14825insGATATGGGGGTGGGGAAGGGATGCAG TTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATGATATG GGGGTGGGGACAGGGTGCAGTTTATAGATGATATGGGGGTGGGGACAGGG TGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGAT AATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGG CGGGGGTGCAGTTGATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTA TAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGG GCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCG GGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATA GATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCG GGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCA GTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAAT ATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGC AGAGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTG TAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGG GGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(847): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCACCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCAT CCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCACCAT CCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCCATGC ATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCTGTCC ATCCATCCGTCCATCCATCCACCATCCATTCACCCATCCATCCATTCATC CATCCATCCACCATCCATCCATTAATTCATCCATCCATCCATCCATTCAT CCACCATCCATCCACCATCCATCCATCCATCCATCCACCATCCATCCATC CACCATCCATCCATTCATCCATCCATCTGTCCATCCATCCATCCATCCGT CCATCCACCATCCATTCACCCATCCATCCATTCATCCATCCATCCACCAT CCATCCATTAATTCATCCATCCATCCATCCATCCATTCATCCATCCACCA TCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATACA TCCATCATCCTCCCATTCATCCATCCATCCACCATCCATCCATTCATTCA TCCATCCATCCATCCATCCACCCACCATCCATCCACCCATCCATCCACCA TCCATCCATCCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCC ATCCGTCCATCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACC ATCCATCCATGCATCCATTCATCCATCCACCATCCATCCACCATCCATCC ACCAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03927.hp2 HG03688.hp1 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0003 a0001c0002t0001 a0001c0008t0003	a0001c0002t0001g0018 a0001c0008t0003g0017 a0001c0002t0001g0018 a0001c0008t0003g0017	2	272	0.0074	854	c.110 others(871): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCA TTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCC ATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATC CATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATC CATCTGTCCATCCATCCGTCCATCCATCCACCATCCATTCACCCATCCAT CCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCA TCCATTCATCCACCATCCATCCACCATCCATCCATCCATCCATCCACCAT CCATCCATCCACCATCCATCCATTCATCCATCCATCTGTCCATCCATCCA TCCATCCGTCCATCCACCATCCATTCACCCATCCATCCATTCATCCATCC ATCCACCATCCATCCATTAATTCATCCATCCATCCATCCATCCATTCATC CATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCC ATTCATACATCCATCATCCTCCCATTCATCCATCCATCCACCATCCATCC ATTCATTCATCCATCCATCCATCCATCCACCCACCATCCATCCACCCATC CATCCACCATCCATCCATCCAGCATCCATCCATCCATCTATTCATCCATC CATCCATCCATCCGTCCATCCATCCATCCATCCTCCATCCATCCATCCAT CCATCAACCATCCATCCATGCATCCATTCATCCATCCACCATCCATCCAC CATCCATCCACCATCATCCATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(847): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCACCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCAT CCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCACCAT CCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCCATGC ATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCTGTCC ATCCATCCGTCCATCCATCCACCATCCATTCACCCATCCATCCATTCATC CATCCATCCACCATCCATCCATTAATTCATCCATCCATCCATCCATTCAT CCACCATCCATCCACCATCCATCCATCCATCCATCCACCATCCATCCATC CACCATCCATCCATTCATCCATCCATCTGTCCATCCATCCATCCATCCGT CCATCCACCATCCATTCACCCATCCATCCATTCATCCATCCATCCACCAT CCATCCATTAATTCATCCATCCATCCATCCATCCATTCATCCATCCACCA TCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATACA TCCATCATCCTCCCATTCATCCATCCATCCACCATCCATCCATTCATTCA TCCATCCATCCATCCATCCACCCACCATCCATCCACCCATCCATCCACCA TCCATCCATCCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCC ATCCGTCCATCCATCCATCCATCCTCCATCCATCCATCCATCCGTCAACC ATCCATCCATGCATCCATTCATCCATCCACCATCCATCCACCATCCATCC ACCAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0052 a0001c0015t0052	a0001c0015t0052g0016 a0001c0015t0052g0016	1	272	0.0037	854	c.110 others(871): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCA TTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCC ATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATC CATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATC CATCTGTCCATCCATCCGTCCATCCATCCACCATCCATTCACCCATCCAT CCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCA TCCATTCATCCACCATCCATCCACCATCCATCCATCCATCCATCCACCAT CCATCCATCCACCATCCATCCATTCATCCATCCATCTGTCCATCCATCCA TCCATCCGTCCATCCACCATCCATTCACCCATCCATCCATTCATCCATCC ATCCACCATCCATCCATTAATTCATCCATCCATCCATCCATCCATTCATC CATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCC ATTCATACATCCATCATCCTCCCATTCATCCATCCATCCACCATCCATCC ATTCATTCATCCATCCATCCATCCATCCACCCACCATCCATCCACCCATC CATCCACCATCCATCCATCCAGCATCCATCCATCCATCTATTCATCCATC CATCCATCCATCCGTCCATCCATCCATCCATCCTCCATCCATCCATCCAT CCGTCAACCATCCATCCATGCATCCATTCATCCATCCACCATCCATCCAC CATCCATCCACCATCATCCATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(847): Show GCTATAACCACCACCACCACCACTATAACCATCACCACCATCACCACTAT AACCACCACTACCACCACCACCATTATAACCATCACCACCACCACTATAA CCACCATCATCATCACCACCACTACCACTACTTTAACCATTACCACCATT ACTACTATAACCACCACCACCACCACCACCACCACTATAATCATTACCAC TATAACCACCACTACCACCACCACCACCATTATAACCATCACCACCACCA CTATAACCACCATCATCATCACCACCACTACCACTACTATAACCATTACC ACCATCACTACTATAACCACCACCACCACCACCACCACCACTATAATCAT TACCACTATAACCACCACTACCACCACTACCACTACTATAACCATCACCA CCATCACTGCTATAATCACCACCACCACCACCACCACCACTATAATCATT ACCACTATAACCACCACTACCACCACCACCACTATGATAACCATCACCAA CACCACTATAACCACCAATGCCAAGAAGTGTTCATAGCAGGAGTCATAAA CACAGGACCAACCAGGGATAGGACCAACCAGGACCAACCAGGACCAACAC CACCACCACTACTACCACTACTATAACCATCACCACCATCACTGCTATAA TCACCACCACCACCACCATCACTATAATCATCACCACCATCACCACTATA ACCACCACCACCACCACCACCACCAGTTATAACCATCACCACCACCACTA TAACCACCATCATCATCACCACCACTACCACTACTATAACCATTACCACC ATTACTACTATAACCACCACCACCACCACCACTGTTATAACCATCACCAC CACTA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0204 a0001c0003t0008g0204	1	230	0.0044	854	c.724 others(873): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACAGTG GTGGTGGTGGTGGTGGTTATAGTAGTAATGGTGGTAATGGTTATAGTAGT GGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTA TAACTGGTGGTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGGTGGTGAT GATTATAGTGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGA TGGTTATAGTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCT GGTTGGTCCTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAAC ACTTCTTGGCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTG GTGGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGT GGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATAGTAGTGG TAGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTG GTGGTGGTGGTGGTTATAGTAGTGATGGTGGTAATGGTTATAGTAGTGGT AGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAA TGGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTG GTGGTGGTGGTGGTGGTGGTTATAGTAGTAATGGTGGTAATGGTTAAAGT AGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGG TTATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATG GTTATAGTGGTGGTGGTGGTGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar

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