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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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
IFFO2_chr1_18899280_18961676	18925816	A A	ATGGATGG others(817): Show ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGA TGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0068 a0001c0001t0004g0068	1	376	0.0027	824	c.666 others(841): Show c.666-4696_666-4695insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCAT CCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCATC CATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925816	A A	ATGGATGG others(817): Show ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGT TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0073 a0001c0001t0006g0073	1	376	0.0027	824	c.666 others(841): Show c.666-4696_666-4695insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCAT CCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA TCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925816	A A	ATGGATGG others(817): Show ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0071 a0001c0001t0012g0071	1	376	0.0027	824	c.666 others(841): Show c.666-4696_666-4695insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAACCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCAT CCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCATC CATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(817): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGAT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGG ATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGA TGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	376	0.0027	824	c.666 others(841): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAACCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCC ATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCATCCA TCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCATC CATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAAC CATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400231	C C	CCCTCCCC others(817): Show CCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCT GCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGCCC CCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTC CCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCT CCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTT CCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCC CCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCC TGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCCTC CCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCC CTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTG CCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCC CCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCACCTTCCCTC CTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTG CCCCCCTCCCCTCCTGTACCCCTCCCCCCCTCCCCTCCTGTACCCCTCCC CCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTCCT ACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCCC CCTCCCCTCCTGCCCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0179 a0001c0001t0052g0179	1	276	0.0036	824	c.66 others(835): Show c.6602_*6603insAGGGGAGGGGGGGCAGGAGGGGAGGGGGCAGGAG GGCATGAGGGGAGGAGGGGAGGGGGCAGGAGGGGAGGGGGTAGGAAGGGA GGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGGAGGGGAGGGGGGAGGGGT ACAGGAGGGGAGGGGGGGAGGGGTACAGGAGGGGAGGGGGGCAGGAGGGC AGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGAAGG TGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAAGGGGCAGGAGG GGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGG AGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGA GGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGGC AGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAG GGGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAG GGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCA GGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGG GGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCA GGAGGGGAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAG GGGAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGA GGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3243		chr2	TogoVar
JAKMIP3_chr10_132060946_132189858	132173147	C C	CCTCTCTC others(817): Show CCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCACCCCCTCCCCTCC TTCCCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCC CTCCTTCCCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCC CTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCT CTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCCTCTCTCTC CCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCGCT CCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCC CTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCCCCCCTCTC CCCTCCCCCTCTCTCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCTC CCCCTCTCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCTC TCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTCTCTCCCCCTCCCCC CTCCCCCTCCCCCATCCCCCTCCCCCTCCCCTATCCCCCTCCCCCCTCCC CCTCCCCCTCCCCCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCT CCTTCCCTCTCTCCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTC TCTCTCTCCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCT CTCTCTCTCTCCCCCCCCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCC TGTCTCTCTCTCCCCCTCCTTCCCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0015 a0001c0019t0015	a0001c0019t0015g0085 a0001c0019t0015g0085	1	158	0.0063	824	c.11 others(845): Show c.1103+4125_*1103+4126insCCCCTCCCCCTCCTTCCCTCTCTC ACCCCCTCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCT CTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCTTCCCTCTCTCT CTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCC CTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTT CCCTCCTCTCTCTCCCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCC CTCCCCCTCTCGCTCCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTC TCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCC CCTCCCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCTCCCCTCCCCCTCTC TCCCCCTCCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCCTCCCCCCTC CCCTCCCCCCTCTCTCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTC TCTCCCCCTCCCCCCTCCCCCTCCCCCATCCCCCTCCCCCTCCCCTATCC CCCTCCCCCCTCCCCCTCCCCCTCCCCCATCCCCCTCCCCCTCCTTCCCT CTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCCTCCTTCCCTCTCTCCCC CCTCCTTCCCTCTCTCTCTCTCCCCCCCCTCCTTCCCTCTCTCTCTCTCC CCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCCCTTCCCTCTCTCTCTCTC CCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(817): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTC CCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGC CGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCA CAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCC CCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCAC CCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCC GCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0038 a0002c0002t0002g0038	1	312	0.0032	824	c.-41 others(839): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCT CCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACC CCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCA CCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(817): Show GGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGAAGGG AGGAAAGGAGGAAGAGAGGGATGAAGGGAGGAAGGAAGGAAGGGGAAGGA AGGAGGAAGGGAGGGAGGGAAGGAGGGAAGAAGGGAGGAAGGGAAGGAGG GAAGGTGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGAGGGAAGCA GGAAGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGGAGGGGAGG GAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAG GGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGA AGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGG AAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAG GGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGA GGGAGGAAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGG AGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAG GAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAA GGAAGAAAGAAAGGAGGGAGGGAGGGAGGGAGGAAGGAACAAAGGAAGGA AGAAAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGG GAGGGAGGGAGGAAGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAG GGAGGGAAGAAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03041.hp1 HG03130.hp1 others(2): Show HG02818.hp1 HG03041.hp1 HG03130.hp1 HG06807.hp1 NA20129.hp1	a0002 a0003 a0022 others(1): Show a0002 a0003 a0022 a0031	a0002c0004 a0003c0020 a0022c0019 others(1): Show a0002c0004 a0003c0020 a0022c0019 a0031c0037	a0002c0004t0001 a0002c0004t0007 a0003c0020t0008 others(2): Show a0002c0004t0001 a0002c0004t0007 a0003c0020t0008 a0022c0019t0002 a0031c0037t0001	a0002c0004t0001g0033 a0002c0004t0007g0024 a0003c0020t0008g0027 others(2): Show a0002c0004t0001g0033 a0002c0004t0007g0024 a0003c0020t0008g0027 a0022c0019t0002g0012 a0031c0037t0001g0063	5	88	0.0568	824	c.507 others(843): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGAAGGAGGGTAA GGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAGGGATGAAGGG AGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGA AGAAGGGAGGAAGGGAAGGAGGGAAGGTGGAAGGAAGGAAGGAAAAGAAG GAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAACAG AAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGA AAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAG GAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGA GGAAGGAAGGAACGAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGG AGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAG AAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAACAAAGGAA GGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGG AGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGG GAGGGAGGAAGGAAGGAACGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAG GGAGGAAGGAACAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGGAGGGA GGAAGGAGGAAAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGG GCAGAAGGAAGGAAGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGAG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(817): Show TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATCCATATATATATATATCCATATATATATATATC CATATATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATATCCATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATATCCATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATCCATATATATATCCA TATATATATCCATATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATCCATATATATATATATCCATATATATATATATC CATATATATATATATCCATATATATATCCATATATATATATATCCATATA TATATCCATATATATATATATCCATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0247 a0002c0002t0002g0247	1	284	0.0035	824	c.126 others(841): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATGGATATATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATGGATATATATATATATGGATATATAT ATGGATATATATATATATGGATATATATATGGATATATATATATATGGAT ATATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATGG ATATATATATGGATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATATGGATATATATATATGGATATATATATATAT GGATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATGGATATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATATGGATATATATATATATGGAT ATATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
MED16_chr19_862963_898187	871890	G G	GGGGCGGG others(817): Show GGGGCGGGGAGGGGCGGGGGGGAGCGGGGAGGGGCGGGGGGAGCGGACAC ACTCTATCAGATTGGGGAGGGGCGGGGGGAGCGGGGAGGGGCGGGGGGAG CGGGGAGGGGCGGGGGGAGCGGGGAGGGGCGGGGGGAGCGGGGAGGGGCG GGGAGGGGCAGGGGGGGGCGGGGGGGGGGCGGGGGGGAGCGGGGAGGGGC GGGGGGGAGCGGGGAGGGGCGGGGAGGGGCGGGGGGGAGCGGGGAGGGGC GGGGGGGAGCGGGGAGGGGCGGGGGGAGCGGGGAGGGGCGGGGGGAGCGG GGAGGGGCGGGGGGAGCGGGGAGGGGCGGGGGGGAGCGGGGAGGGGCGGG GGGGAGCGGGGAGGGGCGGGGGGGAGCGGGGAGGGGCGGGGGGGAGCGGG GAGGGGCGGGGGGGAGCGGGGAGGGGCGGGGGGGAGCGGGGAGGGGCGGG GGGGAGCGGGGAGGGGCGGGGGGGGGCGGGGAGGGGCGGGGGGGGCCGGG GGGGGCGGGGGGGGGCGGGGAGGGGCGGGGAGGGGCGGGGGGGGCCGGGG GGGGCGGGGAGGGGCGGGGGGGGCGGGGAGGGGCGGGGGGGGCGGGGAGG GGCGGGGGGGGCGGGGAGGGGCGGGGGGGGCGGGGAGGGGCGGGGGGGGC GGGGGGGGCGGGGAGGGGCGGGGGGGGGCGGGGAGGGGCGGGGGGGGCGG GGAGGGGCGGGGGGAGCGGGGGGGGCGGGGGGGAGCGGGGGGGGCGGGGG GGAGCGGGGAGGGGCGGGGGGGGCGGGGAGGGGCGGGGGGGGGCGGGGGG AGCGGGGGGGAGCGGGGAGGGGCGA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0011 a0002c0007t0001g0011	1	56	0.0179	824	c.209 others(839): Show c.2098+35_2098+36insTCGCCCCTCCCCGCTCCCCCCCGCTCCCCC CGCCCCCCCCCGCCCCTCCCCGCCCCCCCCGCCCCTCCCCGCTCCCCCCC GCCCCCCCCGCTCCCCCCCGCCCCCCCCGCTCCCCCCGCCCCTCCCCGCC CCCCCCGCCCCTCCCCGCCCCCCCCCGCCCCTCCCCGCCCCCCCCGCCCC CCCCGCCCCTCCCCGCCCCCCCCGCCCCTCCCCGCCCCCCCCGCCCCTCC CCGCCCCCCCCGCCCCTCCCCGCCCCCCCCGCCCCTCCCCGCCCCCCCCG GCCCCCCCCGCCCCTCCCCGCCCCTCCCCGCCCCCCCCCGCCCCCCCCGG CCCCCCCCGCCCCTCCCCGCCCCCCCCCGCCCCTCCCCGCTCCCCCCCGC CCCTCCCCGCTCCCCCCCGCCCCTCCCCGCTCCCCCCCGCCCCTCCCCGC TCCCCCCCGCCCCTCCCCGCTCCCCCCCGCCCCTCCCCGCTCCCCCCCGC CCCTCCCCGCTCCCCCCCGCCCCTCCCCGCTCCCCCCGCCCCTCCCCGCT CCCCCCGCCCCTCCCCGCTCCCCCCGCCCCTCCCCGCTCCCCCCCGCCCC TCCCCGCTCCCCCCCGCCCCTCCCCGCCCCTCCCCGCTCCCCCCCGCCCC TCCCCGCTCCCCCCCGCCCCCCCCCCGCCCCCCCCTGCCCCTCCCCGCCC CTCCCCGCTCCCCCCGCCCCTCCCCGCTCCCCCCGCCCCTCCCCGCTCCC CCCGCCCCTCCCCGCTCCCCCCGCCCCTCCCCAATCTGATAGAGTGTGTC CGCTCCCCCCGCCCCTCCCCGCTCCCCCCCGCCCCTCCCCGCCC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	12/15			chr19	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(817): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGCACCTCCTCACGTGGGCTCCTGGCGAGT GTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCACGCCTCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCT CCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTG TGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGC GCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCACAT GGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGC GAGTGTGCCCCCCACGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCC CACGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCTCCCTGCCTCCTCACATGGGCTCCTGGC GAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCC GCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACATG GGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGA GTGTGCCCCCCGCCTCCTCACATAGGCTCCTGGCGAGTGTGCCCCCCGCG CCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGCCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0035 a0035	a0035c0077 a0035c0077	a0035c0077t0005 a0035c0077t0005	a0035c0077t0005g0086 a0035c0077t0005g0086	1	292	0.0034	824	c.218 others(839): Show c.2189-97_2189-96insAGGCGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGG GGGGCACACTCGCCAGGAGCCTATGTGAGGAGGCGGGGGGCACACTCGCC AGGAGCCCATGTGAGGAGGCGCGGGGGGCACACTCGCCAGGAGCCCATGT GAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGG GGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAG GAGCCCATGTGAGGAGGCAGGGAGCACACTCGCCAGGAGCCCATGTGAGG AGGCGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGTGGGGGG CACACTCGCCAGGAGCCCATGTGAGGAGGCGTGGGGGGCACACTCGCCAG GAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTG AGGAGGCGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGG GGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGGGGCACACTC GCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGG CGTGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCG CCAGGAGCCCACGTGAGGAGGTGCGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGAGGTGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MNAT1_chr14_60729761_60974965	60884044	T T	TGGATGTC others(817): Show TGGATGTCCTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTATTATTATTATTATTTTTTTTTTTTTTTTTATTATACTC TAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATA CATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAG GTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTC CCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAA TTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGA TAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGG ATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATG TGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTT CCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATG TGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAAT GGGATGGCTGGTAAAAACCCTCAAAAACCTGGGTATAAAAGGAATTTACC TCAACATAATGAAAGCCATATATAACAGACCTGCAGCTAGTATACTGAAT GGGGGAAAACTGAAAGTCTTTCTTCTAAGATCTGGAATACAGCAAGAATG CCCACTATCACCACTGCTATTCAACACAGAACTGGCAGTCCTAGCTAGAG CAATCAGACAGGAGAAAGAAATAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	272	0.0037	824	c.809 others(841): Show c.809+4228_809+4229insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTATTATTATTATTATTTTTTTTTTTTTTTTTATTATAC TCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTA TACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATT AGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAG TCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTC AATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGC GATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAA GGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATA TGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGG TTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCA TGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTA ATGGGATGGCTGGTAAAAACCCTCAAAAACCTGGGTATAAAAGGAATTTA CCTCAACATAATGAAAGCCATATATAACAGACCTGCAGCTAGTATACTGA ATGGGGGAAAACTGAAAGTCTTTCTTCTAAGATCTGGAATACAGCAAGAA TGCCCACTATCACCACTGCTATTCAACACAGAACTGGCAGTCCTAGCTAG AGCAATCAGACAGGAGAAAGAAATAAAGGATGTCCTTTATTTCTTT	MNAT1	ENSG00000020426.11	transcript	ENST00000261245.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(817): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCC TCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC CCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCC CCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTC CTCCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	140	0.0071	824	c.114 others(843): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTC TCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCT CCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(817): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCC TCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC CCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCC CCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTC CTCCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA19009.hp1 HG02083.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0024 a0001c0002 a0001c0024	a0001c0002t0001 a0001c0024t0001 a0001c0002t0001 a0001c0024t0001	a0001c0002t0001g0100 a0001c0024t0001g0105 a0001c0002t0001g0100 a0001c0024t0001g0105	2	140	0.0143	824	c.114 others(843): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTC TCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCT CCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
NMRK2_chr19_3928069_3947416	3937595	A A	ATCCCCCG others(817): Show ATCCCCCGGGGTCCGCCCTCCTGCAATGCCCGCTCCCCCTCCACTATTCC CCCGGGGTCCGCCCTCCTGCAATGCCCGCTCCCCCTCCACTATCCCCCGG GGTCCGCCCTCCTGCAATACCTGCTCCCCGTCCACTGTCCCCCCGGGGTC CGCCCTCCTGCAATACCCGCTCCCCGTCCACTGTCCCCCCGGGGTCCGCC CTCCTGCAATGCCCGCTCCCCGTCCACTGTTCCCCCGGGGTCCACCCTCC TGCAATGCCCGCTCCCCGTCCACTGTTCCCCCGGGGTCCACCCTCCTGCA ATACCCGCTCCCCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATGC CCGCTCCCCCTCCACTGTCCCCCCGGGGTCTGCCCTCCTGCAATACCTGC TCCCCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATACCTGCTCCC CGTCCACTGTTCCCCTGGGGTCCGCCCTCCTGCAATACCTGCTCCCCGTC CACTGTCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCTACCCGTCCACT GTTCCCCCAGGGTCCGCCCTCCTGCAATACCTGCTCCCCGTCCACTGTCC CCCCGGGGTCCACCCTCCTGCAATACCCGCTCCCCCTCCACTATACCCCG GGGTCCGCCCTCCTGCAATGCCCGCTCCCCGTCCACTGTTCCCCCGGGGT CCACCCTCCTGCAATACCTGCTCCCCGTCCACTATCCCCCAGGGTCCGCC CTCCTGCAATGCCCGCTCCCCGTCCACTGTTCCCCCGGGGTCCACCCTCC TGCAATACCTGCTCCCCGTCCACTG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	404	0.0025	824	c.166 others(839): Show c.166+308_166+309insCCCCCGGGGTCCGCCCTCCTGCAATGCCCG CTCCCCCTCCACTATTCCCCCGGGGTCCGCCCTCCTGCAATGCCCGCTCC CCCTCCACTATCCCCCGGGGTCCGCCCTCCTGCAATACCTGCTCCCCGTC CACTGTCCCCCCGGGGTCCGCCCTCCTGCAATACCCGCTCCCCGTCCACT GTCCCCCCGGGGTCCGCCCTCCTGCAATGCCCGCTCCCCGTCCACTGTTC CCCCGGGGTCCACCCTCCTGCAATGCCCGCTCCCCGTCCACTGTTCCCCC GGGGTCCACCCTCCTGCAATACCCGCTCCCCGTCCACTGTCCCCCCGGGG TCCACCCTCCTGCAATGCCCGCTCCCCCTCCACTGTCCCCCCGGGGTCTG CCCTCCTGCAATACCTGCTCCCCGTCCACTGTCCCCCCGGGGTCCACCCT CCTGCAATACCTGCTCCCCGTCCACTGTTCCCCTGGGGTCCGCCCTCCTG CAATACCTGCTCCCCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAAT GCCCGCTACCCGTCCACTGTTCCCCCAGGGTCCGCCCTCCTGCAATACCT GCTCCCCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATACCCGCTC CCCCTCCACTATACCCCGGGGTCCGCCCTCCTGCAATGCCCGCTCCCCGT CCACTGTTCCCCCGGGGTCCACCCTCCTGCAATACCTGCTCCCCGTCCAC TATCCCCCAGGGTCCGCCCTCCTGCAATGCCCGCTCCCCGTCCACTGTTC CCCCGGGGTCCACCCTCCTGCAATACCTGCTCCCCGTCCACTGT	NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(817): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGG GAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGA GGGGAAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGGA GGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGG AAGGGGAGGGAGGAGGGGAGGAGGGGGAGGGAGGAGGGGAGGGGAGGAGG GGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGAGGGGAGGGGAGGAGGGGG AGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGA GGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGG GGAGGGGGGGAGGGGAGGGGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGA GGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAAAGGAAG GGAGGGAAGGGGAGGGGAGGAGTGGAGAGGAGGATGAGGGGAGGGGAGGG GAGGAGTGGAGAGGAGGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGTGGA GAGGAGGGGAAGGGAGGGGAGGGGTGCGGGAGGGGAGGGGTGCGGGAGGG GAGGGTAAGGGAAGGGAGGGGAGGGTGGGGGAGGGGAGGGAAGAGGAGTG GAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02976.hp1 HG03209.hp2 HG02280.hp1 HG02976.hp1 HG03209.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0163 a0001c0005t0001g0164 a0001c0005t0001g0165 a0001c0005t0001g0163 a0001c0005t0001g0164 a0001c0005t0001g0165	3	208	0.0144	824	c.279 others(839): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCC TTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCCCCTCCCCTCCCCCCCTCCCCTCC CCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTC CCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCTCCCTCCCCTTCCTCC CCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCC CTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCT TCCCCTCCCCTCCCCTTCCCCTCCCCTTCCCACCCCTCCCTTCTCCTTCC CCCTCCCCTTCCCTCCCTTCCCTTCTCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(817): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGGAGGGG AAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAA GGGGGAGGGGAAGGGGAGGGGGAGAGGGAGGGGAGGGGGAGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGG GAGGAGGGGGAGGGGAGGAGGGGGAGGAAGGGGAGGGAGGAGGGGAGGAG GGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGG AGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAG GGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGAGGGGGAGG GGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGGGGAGAGGGGAGGGGAG GGGGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGAGGGGAGGGGA GGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAAAGGAAG GGAGGGAAGGGGAGGGGAGGAGTGGAGAGGAGGATGAGGGGAGGGGAGGG GAGGAGTGGAGAGGAGGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGTGGA GAGGAGGGGAAGGGAGGGGAGGGGTGCGGGAGGGGAGGGGTGCGGGAGGG GAGGGTAAGGGAAGGGAGGGGAGGGTGGGGGAGGGGAGGGAAGAGGAGTG GAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0193 a0001c0003t0001g0193	1	208	0.0048	824	c.279 others(839): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCC TTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCTCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCC CCCTCCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCT CCCCTCCTCCCTCCCCTTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTC CCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCTCTCCCCCTCCCCTTCCCCTCCCCCTTCCC CTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCT CCCCCTTCCCCTCCCCTCCCCTCCCCTTCCCACCCCTCCCTTCTCCTTCC CCCTCCCCTTCCCTCCCTTCCCTTCTCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(817): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0159 a0001c0001t0007g0159	1	304	0.0033	824	c.66+ others(839): Show c.66+3401_66+3402insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RPH3AL_chr17_207389_357807	288807	G G	GCACCCTC others(817): Show GCACCCTCTCTCCACCGTCAGACCTCGCACGCTCTCTCCACCGTCAGACC TCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGA CCTCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGT CAGACCTCACTCCCTCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCA CCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTC TCCACCGTCAGACCTCACACCCTCTCTCTCCACCGTCAGACCTCACACCC TCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCTCCACCGTCAGACC TCACACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCA GACCTCACTCCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGT CAGACCTCACACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCTCCA CCGTCAGACCTCGCTCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTC CACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCGCACCCTCTC TCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCACTCCCTC TCTCCACCGTCAGAACTCACTCCCTCTCTCCACCGTCAGACCTCACACCC TCTCTCCACCGTCAGACCTCACTCCCTCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCCACCGTCAGACCTCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0071 a0001c0001t0022g0071	1	133	0.0075	824	c.352 others(841): Show c.352-6954_352-6953insGGAGGTCTGACGGTGGAGAGAGGGTGCG AGGTCTGACGGTGGAGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAGGG TGTGAGGTCTGACGGTGGAGAGAGGGAGTGAGTTCTGACGGTGGAGAGAG GGAGTGAGGTCTGACGGTGGAGAGAGGGAGTGAGGTCTGACGGTGGAGAG AGGGTGCGAGGTCTGACGGTGGAGAGAGGGAGTGAGGTCTGACGGTGGAG AGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGAGCGAGGTCTGACGGTGG AGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAGGGTGTGAGGTCTGACG GTGGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAGGGAGTGAGGTCTGA CGGTGGAGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGTGAGGT CTGACGGTGGAGAGAGAGGGTGTGAGGTCTGACGGTGGAGAGAGGGTGCG AGGTCTGACGGTGGAGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGGG TGTGAGGTCTGACGGTGGAGAGAGAGGGTGTGAGGTCTGACGGTGGAGAG AGGGTGCGAGGTCTGACGGTGGAGAGAGAGGGTGCGAGGTCTGACGGTGG AGAGAGGGTGTGAGGTCTGACGGTGGAGAGAGAGGGAGTGAGGTCTGACG GTGGAGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCT GACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGT CTGACGGTGGAGAGAGCGTGCGAGGTCTGACGGTGGAGAGAGGGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGTGTTG others(817): Show GGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGAGTGAGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGG GGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGG TTGGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGG TGGGGGGGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGG GTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGGTGAG GGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTGGGGGGGTTGAGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGTTG GGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGGTTGAGTGAGGGGGGTG GGGGGGTTGGGTGAGGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGG GTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGG TGAGGGGGGTGGGGTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGG TGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGAGT GAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAG TGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGAGTGAGGGGGGTGGGGTG TTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGG GGGGTGGGGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	290	0.0035	824	c.464 others(837): Show c.464+83_464+84insTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGGTGAGGGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGG GGTTGAGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGTTGGGGGGGTTGGGT GAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTG AGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGG TTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGGGGGGT TGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGGT TGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGTTGGGGGGGGTTGAGT GAGGGGGGTGGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGG GGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGGTTGAGTGAGGGG GGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGG GTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG TTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGAGT GAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGG GGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(817): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATATTCCATATATATATATATTCCATATATATATATATATTCCATATA TATATATATTCCATATATATATATATATTCCATATATATATATTCCATAT ATATATATATTCCATATATATATATTCCATATATATATATATTCCATATA TATATATTCCATATATATATATATTCCATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATTCCATATATATATATATTCCATATATATATATTCCATATATATATAT ATTCCATATATATATATTCCATATATATATATATTCCATATATATATATT CCATATATATATATTCCATATATATATATTCCATATATATATATTCCATA TATATATATTCCATATATATATATATTCCATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATTCCATATATATATATTCC	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	324	0.0031	824	c.115 others(841): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATGGAATATATATATATATGGAATATATATATAT GGAATATATATATATGGAATATATATATATGGAATATATATATATGGAAT ATATATATATGGAATATATATATATATGGAATATATATATATGGAATATA TATATATATGGAATATATATATATGGAATATATATATATATGGAATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATGGAATATATATATATATGGAATATATATAT ATGGAATATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATGGAATATATATATATATATGGAATATATATATAT ATGGAATATATATATATATATGGAATATATATATATATGGAATATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SUFU_chr10_102498972_102638535	102637512	A A	ATATTATA others(817): Show ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATTATATATTATATAACTATAT ATTATATATAATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATTATATATTATATAACTATATATTATATATAATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTTTATATTATATAACTATATATAATATATAAT ATATATATTTTATATTATATAACTATATATTATATATAATATATAACTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	268	0.0037	824	c.73 others(835): Show c.7357_*7358insTATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATTATAT ATTATATAACTATATATTATATATAATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATTATATATTATATAACTATATATTATATATAATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTTTATATTATATAACTA TATATAATATATAATATATATATTTTATATTATATAACTATATATTATAT ATAATATATAACTATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATATTATATATAATATATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3978		chr10	TogoVar
TECPR1_chr7_98209624_98257232	98242993	C C	CCCACCCA others(817): Show CCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGCA CACCCACCCATCTGTCCATCTGCACACACCTTCCATCCATCCACACATAT ACCCACCTATCCATCTACCCATGCACTCACCCACCCACTCACTCACCCAT CCACACACCCACCCACACACCCATCCATCCACACACCCACCCACCCATCC ATCCACACATCCACCCACACATCCATCCATCCACCCATCCATACATCCAT CTGCACAACCACCCATCTGTCCATCTGCACATACCTTCCATTCATCCACA CATACACCCACCCACCCACTCACCCACCCATCCACACACCCATCCACCCA TCCACACACCCACCCACCCATCCATCCACACATCCACCCACACACCCATC CATCCATCCATCCGCACACCCACCCATCTGTCCATCTGCACACACCTTCC ATCCATCCACACATATACCCACCTATCCATCTACCCATGCACCCACCCAC CCACCCACTCACCCATCCACACACCCACCCACACACCCATCCATCCACAC AAACACCCACCCATCCATCCATCCACCCATCCATCCATCCATCTGCCCAC ACACCCACCCATCCACCCATCCATCCACACACCCACCTATCCATCCTTCT GCCCACACACCACCCATCCACCCATCCATCCACACACCCACCTATCCATC CTTCTGCCCACACACCACCCATCCACCCATCCATCCACACACCCACCTAT CCATCCTTCTGCCCACACACCCACCCATCCACCCATCCATCCACACACCC ACCTATCCATCCTTCTGCCCACACA	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18977.hp2 NA19084.hp2 others(1): Show HG02027.hp2 NA18977.hp2 NA19084.hp2 NA19088.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0038 a0001c0004t0108 a0001c0004t0001 a0001c0004t0038 a0001c0004t0108	a0001c0004t0001g0284 a0001c0004t0001g0285 a0001c0004t0038g0283 others(1): Show a0001c0004t0001g0284 a0001c0004t0001g0285 a0001c0004t0038g0283 a0001c0004t0108g0286	4	346	0.0116	824	c.657 others(839): Show c.657+473_657+474insTGTGTGGGCAGAAGGATGGATAGGTGGGTG TGTGGATGGATGGGTGGATGGGTGGGTGTGTGGGCAGAAGGATGGATAGG TGGGTGTGTGGATGGATGGGTGGATGGGTGGTGTGTGGGCAGAAGGATGG ATAGGTGGGTGTGTGGATGGATGGGTGGATGGGTGGTGTGTGGGCAGAAG GATGGATAGGTGGGTGTGTGGATGGATGGGTGGATGGGTGGGTGTGTGGG CAGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGGTGTTTGTGTG GATGGATGGGTGTGTGGGTGGGTGTGTGGATGGGTGAGTGGGTGGGTGGG TGGGTGCATGGGTAGATGGATAGGTGGGTATATGTGTGGATGGATGGAAG GTGTGTGCAGATGGACAGATGGGTGGGTGTGCGGATGGATGGATGGATGG GTGTGTGGGTGGATGTGTGGATGGATGGGTGGGTGGGTGTGTGGATGGGT GGATGGGTGTGTGGATGGGTGGGTGAGTGGGTGGGTGGGTGTATGTGTGG ATGAATGGAAGGTATGTGCAGATGGACAGATGGGTGGTTGTGCAGATGGA TGTATGGATGGGTGGATGGATGGATGTGTGGGTGGATGTGTGGATGGATG GGTGGGTGGGTGTGTGGATGGATGGGTGTGTGGGTGGGTGTGTGGATGGG TGAGTGAGTGGGTGGGTGAGTGCATGGGTAGATGGATAGGTGGGTATATG TGTGGATGGATGGAAGGTGTGTGCAGATGGACAGATGGGTGGGTGTGCGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGGTGG	TECPR1	ENSG00000205356.10	transcript	ENST00000447648.7	protein_coding	6/25			chr7	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGATCAC others(817): Show CCGATCACCATCCACAGTCACCACACATCAGACCCCCACAACCGCCATCC ACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACA TCAGACCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACGACCG CCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCAC CACACATCAGACCCCACGACTGCCATCCACAGTCACCACACATCAGACCC TACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCC ACAGTCACCACACATCAGACCCTACGACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGAC CGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTC ACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCA CGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCTGTGACCGATCGCCATCCACAGTCACCAC ATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGA CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	392	0.0026	824	c.228 others(843): Show c.2287-1509_2287-1508insTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGGTGACTGTGGATGGCGATCGGTCACAGGGGTCTGATGTGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTAG GGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTTGTGGGGGTCTGATGTGTGGTGACTGTGGATGGTGATCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMEM120B_chr12_121707752_121787068	121747847	C C	CGGGAGGC others(817): Show CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGATAGAAGGTGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGG GTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG TCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGTG GGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGATAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0088 a0002c0002t0088	a0002c0002t0088g0160 a0002c0002t0088g0160	1	314	0.0032	824	c.189 others(839): Show c.189-460_189-459insCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGATAGAAGGTGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGG GTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG TCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGTG GGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGATAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS9_chr19_2355265_2431261	2377604	T T	TCTCCCCC others(817): Show TCTCCCCCTCCCCTCTCCCCCCCTCCTCTCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTC CTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCC TCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTC CCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTC CCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCT CCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTC CCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCCTCCCCT ACCCCTACCCCCCCTGCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCT CCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTTC CCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTC CCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTC CCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCACC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0036 a0001c0004t0002g0036	1	114	0.0088	824	c.-25 others(843): Show c.-25-12157_-25-12156insCTCCCCCTCCCCTCTCCCCCCCTCCT CTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCC CTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTC TCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCT CCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCC TCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCC TCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCT CCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTC CCCCTCCCCCTTCCCCCTCCCCTACCCCTACCCCCCCTGCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCT CCTACCCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTAT CCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCC TCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCC CCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCACC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18			chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377604	T T	TCTCCCCT others(817): Show TCTCCCCTCCCCTCTCCCCCCCTCCTCTCTCCCCTCCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTC CTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCC TCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTC CCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTC CCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCT CCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTC CCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCCTCCCCT ACCCCTACCCCCCCTGCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCT CCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTTC CCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTC CCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTC CCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCACC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	114	0.0088	824	c.-25 others(843): Show c.-25-12157_-25-12156insCTCCCCTCCCCTCTCCCCCCCTCCTC TCTCCCCTCCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCC CTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTC TCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCT CCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCC TCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCC TCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCT CCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTC CCCCTCCCCCTTCCCCCTCCCCTACCCCTACCCCCCCTGCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCT CCTACCCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTAT CCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCC TCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCC CCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCACC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18			chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377604	T T	TCTCCCCT others(817): Show TCTCCCCTCCCCTCTCCCCCCCTCCTCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCC TCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCT CTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCC CCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCC CCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTC CCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCC CCTCTCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCCTCCCCT ACCCCTACCCCCCCCTGCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCC TCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTTC CCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTC CCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTC CCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCACC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	114	0.0088	824	c.-25 others(843): Show c.-25-12157_-25-12156insCTCCCCTCCCCTCTCCCCCCCTCCTC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCT CCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTC CCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCT CTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCT CTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTC CCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCCTCCCCTCCCCTC CCCCTCCCCCTTCCCCCTCCCCTACCCCTACCCCCCCCTGCCCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCC CTCCCCTCTCCCCTCCCCTTCCCTCCCTCTCCCCTCCCCCTTCCCCCTCT CCTACCCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTAT CCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCC TCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCC CCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCACC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18			chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377604	T T	TCTCCCCT others(817): Show TCTCCCCTCCCCTCTCCCCCCCTCCTCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCC TCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCT CTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCC CCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCC CCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTC CCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCC CCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCCCTCCCCT ACCCCTACCCCCCCTGCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCT CCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTTC CCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTC CCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTC CCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCACC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	114	0.0088	824	c.-25 others(843): Show c.-25-12157_-25-12156insCTCCCCTCCCCTCTCCCCCCCTCCTC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCT CCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTC CCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCT CTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCT CTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTC CCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCC CCCTCCCCCTTCCCCCCTCCCCTACCCCTACCCCCCCTGCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCT CCTACCCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTAT CCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCC TCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCC CCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCACC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18			chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377604	T T	TCTCCCCT others(817): Show TCTCCCCTCCCCTCTCCCCCCCTCCTCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCC TCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCT CTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCC CCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCC CCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTC CCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCC CCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCCTCCCCTA CCCCTACCCCCCCTGCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTC CCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTTCC CCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCC CCTCCCCTCCCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTC CCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCACC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0039 a0001c0004t0002g0039	1	114	0.0088	824	c.-25 others(843): Show c.-25-12157_-25-12156insCTCCCCTCCCCTCTCCCCCCCTCCTC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCT CCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTC CCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCT CTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCT CTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTC CCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCC CCCTCCCCCTTCCCCCTCCCCTACCCCTACCCCCCCTGCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTC CTACCCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATC CCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCCTCCCCTATCCCC TCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCC CCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCACC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18			chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2418721	T T	TCCTTCCC others(817): Show TCCTTCCCTCCCTCCCTTTCCTTCCCTGCCTTCCCTTCCTCCCTTTCCTT CCCTTCCTTCCCTCCCTCCCTCCCCTTCCCTCCCTACCTTTCCTTCCCTT CTCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCATTCCCTCCCTC CCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTT TCCTTCCCTCCATCCCTTTCCTTCCCTTCCCTTCCCTCCCTCCCTTTCCT TTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTTCCTTCCCTCCCTCTTTC CTTCCCTGCCTTCCCTCCCTACCTCCCCTGCCTTCCCTCCCTACCTCCCC TTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCT CTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCC TTTCCTTCCCTCCCTACGTCTCCTTTCCTTCCCTCCCTCCCTCTCCTTCC CTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTC CCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTT CCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCCCCT TCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCCTTCCCTTCCC TCCCTCCCTCCCTTTCCTTCCCCCATCCCTTTCCTTCCCTCCCTCCCTTT CCTTCCCTCCCTCCCTCTCCTTCCCTCCCTCCCTCTCCTTCCTTCCCTCC CTCCCTTTCCTTCCTTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	114	0.0088	824	c.215 others(841): Show c.2154+587_2154+588insCCCTCCCTCCCTTTCCTTCCCTGCCTTC CCTTCCTCCCTTTCCTTCCCTTCCTTCCCTCCCTCCCTCCCCTTCCCTCC CTACCTTTCCTTCCCTTCTCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCC CTTTCATTCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTCC CCTTCCCTCCCTCCCTTTCCTTCCCTCCATCCCTTTCCTTCCCTTCCCTT CCCTCCCTCCCTTTCCTTTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTT CCTTCCCTCCCTCTTTCCTTCCCTGCCTTCCCTCCCTACCTCCCCTGCCT TCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTC CCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCT TCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACGTCTCCTTTCCTTCCC TCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCC CACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCC CCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTC CCCACCCTCCCTCCCCTTCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTC CCTCTCCTTCCCTTCCCTCCCTCCCTCCCTTTCCTTCCCCCATCCCTTTC CTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTCCCTCCC TCTCCTTCCTTCCCTCCCTCCCTTTCCTTCCTTCCCTCCCTCCCTT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(817): Show ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAT ACACACCACACCCCACACACACCACACACCCCACACACACCACACAAACC ACACACCCTACACACCCCACACACACCACACACACACATCACATACCACA CACAAACCACACACCACACACACACCACACACCCCACACACACATCACAT ACCACACACAAACCACACACCCAACACACACATCACACACCACACACCCC ACACACACATCACATACCACACACAAACCACACACCCTACACACACCACA CACCCCACACACACATCACACACCACACACACCACACACACCCCACACAC ACCACACACACACATCACATACCACACACCCGACACACGCCACACACACA CCACACACCCCACGCACACATCACATACCACACACAAACCACACACCCTA CACACACCACACACCCCACACACACCACACACACACACCACACACACATC ACATACCACACACAAACCACACACCCCCACACACCCCACACACCCCACAC ACACCACACACCCCACACACACACCACACACCCCACACACACATCACATA CCACACACAAACCACACACCCCACACACCCCACACACCACACACACACCA CACACCCCACACACACATCACATACCACACACAAACCACACACCCTACAC ACACCACACACCCCACACACACCACACACCCGACACACGCCACACACACA CCACACACCCCACGCACACATCACATACCACACACAAACCACACACCCTA CACACCCCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	338	0.0030	824	c.35 others(843): Show c.35+22426_*35+22427insCCCACACACACCACACCCCACACACA CCACACCCCATACACACCACACCCCACACACACCACACACCCCACACACA CCACACAAACCACACACCCTACACACCCCACACACACCACACACACACAT CACATACCACACACAAACCACACACCACACACACACCACACACCCCACAC ACACATCACATACCACACACAAACCACACACCCAACACACACATCACACA CCACACACCCCACACACACATCACATACCACACACAAACCACACACCCTA CACACACCACACACCCCACACACACATCACACACCACACACACCACACAC ACCCCACACACACCACACACACACATCACATACCACACACCCGACACACG CCACACACACACCACACACCCCACGCACACATCACATACCACACACAAAC CACACACCCTACACACACCACACACCCCACACACACCACACACACACACC ACACACACATCACATACCACACACAAACCACACACCCCCACACACCCCAC ACACCCCACACACACCACACACCCCACACACACACCACACACCCCACACA CACATCACATACCACACACAAACCACACACCCCACACACCCCACACACCA CACACACACCACACACCCCACACACACATCACATACCACACACAAACCAC ACACCCTACACACACCACACACCCCACACACACCACACACCCGACACACG CCACACACACACCACACACCCCACGCACACATCACATACCACACACAAAC CACACACCCTACACACCCCACACACCCCACACACACCACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(817): Show TATAATAATATAATATATATTATTATATGTTATTATATATAATAATATAA TATATATTATTATATGTTATTATATATAATAATATAATATATATTATTAT ATGTTATTATATATAATAATATATATTATTATATGTTATTATATATAATA ATATATATTATTATATGTTATTATATATAATAATATAATATATATTATTA TATGTTATTATATATAATAACATATTATATATTATGTTATTATATATAAT AACATAATATATATTATATGTTATTATATATAATAACATAATATATATTA TATGTTATTATATATAATAACATAATATATATTATTATATGTTATTATAT ATAATAACATAATATATATTATTATATGTTATTATATATAATAACATAAT ATATATTATTATATGTTATTATATATAATAACATAATATATATTATTATA TGTTATTATATATAATAACATAATATATATTATTATATGTTATTATATAT AATAATATAATATATATTATTATATGTTATTATATATAATAATATATATT ATATTATTATATGTTATTATATATAATAATATAATATATATTATTATATG TTATTATATATAATATATATTATATTATATATAATAATATAATATATATT ATATTATTATATATAATAATATAATATATATTATTATATATTATATATTA TTATATATAATATATATATAATTATATTATTATATATTATTATATATAAT ATATATAATTATATATATATTATATATATTATATATAATAATAATATATA TAATTATATATATTATATATAATAA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0215 a0002c0003t0002g0215	1	238	0.0042	824	c.392 others(841): Show c.392+6154_392+6155insTTATTATATATAATATATATAATTATAT ATATTATTATTATATATAATATATATAATATATATATAATTATATATATT ATATATAATAATATATAATAATATAATTATATATATATTATATATAATAA TATATAATATATAATAATATATATTATATTATTATATATAATAATATAAT ATATATTATATTATTATATATAATATAATATATATTATATATAATAACAT ATAATAATATATATTATATTATTATATATAATAACATATAATAATATAAT ATATATTATTATATATAATAACATATAATAATATATATTATATTATTATA TATAATAACATATAATAATATATATTATGTTATTATATATAATAACATAT AATAATATATATTATGTTATTATATATAATAACATATAATAATATATATT ATGTTATTATATATAATAACATATAATAATATATATTATGTTATTATATA TAATAACATATAATAATATATATTATGTTATTATATATAATAACATATAA TATATATTATGTTATTATATATAATAACATATAATATATATTATGTTATT ATATATAATAACATAATATATAATATGTTATTATATATAATAACATATAA TAATATATATTATATTATTATATATAATAACATATAATAATATATATTAT TATATATAATAACATATAATAATATATATTATTATATATAATAACATATA ATAATATATATTATATTATTATATATAATAACATATAATAATATATATTA TATTATTATATATAATAACATATAATAATATATATTATATTATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
VCX2_chrX_8164944_8176267	8169101	C C	CCTCCCTC others(817): Show CCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACAC CTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCT CCCTCCCTCCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACAC ACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCC CACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCC CTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTT CCTCCCTCCCTCCTCACACACCACCGCTTCCTCCCTCCCTCCCTCCCTCC CCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTC CTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCCCCTCCCTCCCT CCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCACACACCACCTCTT CCTCCCTCCCTCCCTCCCCACACCACCTCTTCCTCCCTCCCTCCCTCCCC ACACACCTCCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCC TCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCT CTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCAC ACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCC CTCCCTCCCTCCCCACACACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0001 a0010c0020t0001	a0010c0020t0001g0036 a0010c0020t0001g0036	1	115	0.0087	824	c.93 others(833): Show c.930_*931insAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGGAGGAAGCGGTGGTGTGTGAGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGG AGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGGAGGGAGGGAGGAAGAGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		842		chrX	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(817): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGTGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGAGAAGTGAGGGGAGGGAGGGAGGGAAGGGAGGGAGGGGAGGGGAGGGA GGGAGAGAAGTGAGGGGAGGGAGGGAGGGAAGGGAGGGAGGGGAGGGGAG GGAGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAG GGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGT GAGGGGAGCGAGGGAGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGGAGGG AGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGG GAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGG AAGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAA GGGAGGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGG GAAGGGAAGGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGG AAATGGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0144 a0002c0003t0003g0144	1	290	0.0035	824	c.205 others(843): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTC CCTCCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTCGCTCCCCTCA CTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCC TTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCC TCCCCTCCCCTCCCTCCCTTCCCTCCCTCCCTCCCCTCACTTCTCTCCCT CCCTCCCCTCCCCTCCCTCCCTTCCCTCCCTCCCTCCCCTCACTTCTCTC CCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCC TCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCC CCTCCCTCCCCTTCCCTCCACTCCCTCCCCTTCCCTCCCTCCCCTCCCTC CCCTCCCTCCCTCCCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCC CTTCCCTCACTCCCTCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTT CCTCTCACTTCCCTTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ABCC4_chr13_95014835_95306451	95025446	A A	ACAGACCC others(818): Show ACAGACCCATACACACACACACCAGACCCCCACACCCCCACACCCATACA CACACACCCACCCACCCACACCCACACCCACCACACACACCCACACCCCC ACACACACCCTCCCACCCCCACACACACACATACCCCCACCACACACCCA CACACCCCCTCACACACCCACACCCACCACACACCCCCACCACACACCCA CATACACCCACACCCCCACCACACACCCATACACACACCCCCACATACTA ATACACACACACTCCCACACCCTCCCACCCCCCCACACCCCCACCACACA CCAATACACACCCACACACCCCCTCACACACACACCCACACACCCATACA CACACCCACCACACACCCATACAAACCCCCACACCCCCTCACACCCTCCC CCCACTCACCCATACACAACCCCCACCACACCCCCACACCCATACACACA CACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACACACCCTC CCCCCACTCACCCATACACAACCCCCACCACACCCCCACACCCATACACA CACACACCCCCACCACACCCATACACACACCCTTGCACCCCCTCACACAC CCTCCCCCCCACACACCCATACACACACCCCCACACCCCCACCACACCCA TACACACACACCCGTACCCCCTCACACCCTCCCCCCACACACCCATCCCC ACCACACACCCATACACACACACCCACACACACACCACACCCATACACAC ACATACCCCCACACCCCCACACACACCCTCCCTCACACACACCCCCACCA CACACCCATACACACCCCAACCCCCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG01891.hp1 HG02055.hp1	a0001 a0002 a0001 a0002	a0001c0022 a0002c0015 a0001c0022 a0002c0015	a0001c0022t0011 a0002c0015t0011 a0001c0022t0011 a0002c0015t0011	a0001c0022t0011g0039 a0002c0015t0011g0018 a0001c0022t0011g0039 a0002c0015t0011g0018	2	248	0.0081	825	c.387 others(844): Show c.3871-3765_3871-3764insGGGGGGTTGGGGTGTGTATGGGTGTG TGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGTGGGGGTATGT GTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATGGGTGTGTGGT GGGGATGGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGGTGTGTGTGTA TGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTGTGGGGGGGAGG GTGTGTGAGGGGGTGCAAGGGTGTGTGTATGGGTGTGGTGGGGGTGTGTG TGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGGTGAGTGGGGG GAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGGGGTG TGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGGTGAGTGGG GGGAGGGTGTGAGGGGGTGTGGGGGTTTGTATGGGTGTGTGGTGGGTGTG TGTATGGGTGTGTGGGTGTGTGTGTGAGGGGGTGTGTGGGTGTGTATTGG TGTGTGGTGGGGGTGTGGGGGGGTGGGAGGGTGTGGGAGTGTGTGTGTAT TAGTATGTGGGGGTGTGTGTATGGGTGTGTGGTGGGGGTGTGGGTGTATG TGGGTGTGTGGTGGGGGTGTGTGGTGGGTGTGGGTGTGTGAGGGGGTGTG TGGGTGTGTGGTGGGGGTATGTGTGTGTGTGGGGGTGGGAGGGTGTGTGT GGGGGTGTGGGTGTGTGTGGTGGGTGTGGGTGTGGGTGGGTGGGTGTGTG TGTATGGGTGTGGGGGTGTGGGGGTCTGGTGTGTGTGTGTATGGGTCTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113418971	C C	CTCTTTTC others(818): Show CTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTTCCTTCC TTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTTCTTCCCCTTCCCC TCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCTTCCCTTCCTTCT TTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCGT CCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTT CCTTCCTTTCTTCCCCTTCCCCTCCCTTCCCTTCCTTCTTTTCCTTCCCT CCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCGTCCCCTCCCCTT CCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCT TCCCCTTCCCCTCCCTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCC TCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCTTCCCTTCCT TCTTTTCCTTCCTTCACTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TTCTTCCCCTTCCCCTCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCTTCCCTTCCT TCTTTTCCTTCCTTCACTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCT TCCCCTTCCCCTCCCCTTCCCTTCCT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0199 a0002c0002t0003g0199	1	262	0.0038	825	c.106 others(844): Show c.1061+3854_1061+3855insAGGAAGGGAAGGGGAGGGGAAGGGGA AGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGAAGGAAAAGA AGGAAGGGAAGGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGGAGGGA GGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGAGGGGAAGGGGAAGAA AGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGAAGGAAAAGA AGGAAGGGAAGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGA GGGAGGGAGTGAAGGAAGGAAAAGAAGGAAGGGAAGGGAGGGGAAGGGGA AGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGG AAGGGGAGGGGACGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGG AGGGAAGGAAAAGAAGGAAGGGAAGGGAGGGGAAGGGGAAGAAAGGAAGG AAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGG ACGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAA AGAAGGAAGGGAAGGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGA GGGGAAGGGGAAGAAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAA GGAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGC others(818): Show TGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGGGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGG GTACGTGGGGGGCGGGCGAGTAGACGGCGTGCATAGGGCCGGGGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCG GGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGG GCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCATAGGGCCGGGGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGG GGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGC CGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAG GGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCA TAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGT AGGGGCCGGAGGCGGGGTGTGTACAGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCATGTGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCAT AGGGGCCGGAGGCGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	338	0.0030	825	c.300 others(842): Show c.300-9389_300-9388insCGAGTAGACGGTCGGCATGCATAGGGCC GGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGG GCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCAT AGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCGTGCATA GGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCGTGC ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGT GCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGG CATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGT CGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGAC GGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTA GACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGA GTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACAGGGCGGGTGA GTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAG ACGGCATGTGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAG ACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAG ACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(818): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGG GTACGTGGGGGGCGGGTGAGTAGACGGCGTGCATAGGGCCGGGGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCG GGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGG GCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCG GGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCATAGGGCCGG GGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGC CGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAG GGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCA TAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCATGTGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCAT AGGGGCCGGAGGCGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0096 a0004c0006t0002g0096	1	338	0.0030	825	c.300 others(842): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCGTGCATAGGGCC GGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGG GCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCATAGGG CCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATA GGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGC ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGT GCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGG CATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGT CGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGAC GGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTA GACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACG GCATGTGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACG GCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACG GTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDC27_chr17_47112703_47194295	47131877	C C	CCCAGGCT others(818): Show CCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCA TCCCAAAGTGTTGGGATTACAAGTATGAGCCACCGTACCCGGCCAAAGTA CAATTTGTTACCAGATACATTTAAAATATATAAATATAAAAATGATTGTG CATATTGACTTATAAGAATTTTAATTCATTATGACATACCTATGTTACTC AGAGGCTTAAACACAGGGAACCATTTGCCTTAAAATACTACCTACTTAAG GCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAG GCAGGCGGATCATGAGGTCAGGAGATCCAGACTATCCTGGCTAACACGGT GAAACACAGTCTCTACTAAAAATACAAAAAATCAGCCAGGTGTGGTGGTG GGCACCTGTAGTCCCAGCTACTCGGGATGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGGGCCACTGCACTCC AGCCTGGGTGACAGGTCTCAAAACAAACAAACAAACAAACAAACAAAAAA CAAAAAAAAAACCTACTTAACTTAGGAGCTAAATATTAACCCATGGAAAA TGCTTTCAAAAATAGGAAGTATCTTTTTTTTTTTTTTGAGACAGAGTCTT GCTCTGTCGCCCAGGCTGTAGTGCAGTGGTGCGATCTCGGCTCACAGCAA CCTCCTCCTTCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAG CTGGAATTACAGGCGTGTGCCACCACGCCTAGCTAGTTTTTGTATTTTTA GTAAAAATGGGGTTTCACCATGTTTG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0284	1	358	0.0028	825	c.203 others(842): Show c.2031+379_2031+380insCAAACATGGTGAAACCCCATTTTTACTA AAAATACAAAAACTAGCTAGGCGTGGTGGCACACGCCTGTAATTCCAGCT ACTCGGGAAGCTGAGGCAGGAGAATTGCTTGAACCCAGAAGGAGGAGGTT GCTGTGAGCCGAGATCGCACCACTGCACTACAGCCTGGGCGACAGAGCAA GACTCTGTCTCAAAAAAAAAAAAAAGATACTTCCTATTTTTGAAAGCATT TTCCATGGGTTAATATTTAGCTCCTAAGTTAAGTAGGTTTTTTTTTTGTT TTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACCTGTCACCCAGGCTGG AGTGCAGTGGCCCGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGTGCCCA CCACCACACCTGGCTGATTTTTTGTATTTTTAGTAGAGACTGTGTTTCAC CGTGTTAGCCAGGATAGTCTGGATCTCCTGACCTCATGATCCGCCTGCCT TGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCT TAAGTAGGTAGTATTTTAAGGCAAATGGTTCCCTGTGTTTAAGCCTCTGA GTAACATAGGTATGTCATAATGAATTAAAATTCTTATAAGTCAATATGCA CAATCATTTTTATATTTATATATTTTAAATGTATCTGGTAACAAATTGTA CTTTGGCCGGGTACGGTGGCTCATACTTGTAATCCCAACACTTTGGGATG CCAAGGCAGGAGGATTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGG	CDC27	ENSG00000004897.12	transcript	ENST00000066544.8	protein_coding	15/18			chr17	TogoVar
CDC27_chr17_47112703_47194295	47131877	C C	CCCAGGCT others(818): Show CCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCA TCCCAAAGTGTTGGGATTACAAGTATGAGCCACCGTACCCGGCCAAAGTA CAATTTGTTACCAGATACATTTAAAATATATAAATATAAAAATGATTGTG CATATTGACTTATAAGAATTTTAATTCATTATGACATACCTATGTTACTC AGAGGCTTAAACACAGGGAACCATTTGCCTTAAAATACTACCTACTTAAG GCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAG GCAGGCGGATCATGAGGTCAGGAGATCCAGACTATCCTGGCTAACACGGT GAAACACAGTCTCTACTAAAAATACAAAAAATCAGCCAGGTGTGGTGGTG GGCACCTGTAGTCCCAGCTACTCGGGATGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCAGGGCTTGCAGTGAGCCGAGATCGGGCCACTGCACTCC AGCCTGGGTGACAGGTCTCAAAACAAACAAACAAACAAACAAACAAAAAA CAAAAAAAAAAACCTACTTAACTTAGGAGCTAAATATTAACCCATGGAAA ATGCTTTCAAAAATAGGAAGTATCTTTTTTTTTTTTTGAGACAGAGTCTT GCTCTGTCGCCCAGGCTGTAGTGCAGTGGTGCGATCTCGGCTCACAGCAA CCTCCTCCTTCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAG CTGGAATTACAGGCGTGTGCCACCACGCCTAGCTAGTTTTTGTATTTTTA GTAAAAATGGGGTTTCACCATGTTTG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	358	0.0028	825	c.203 others(842): Show c.2031+379_2031+380insCAAACATGGTGAAACCCCATTTTTACTA AAAATACAAAAACTAGCTAGGCGTGGTGGCACACGCCTGTAATTCCAGCT ACTCGGGAAGCTGAGGCAGGAGAATTGCTTGAACCCAGAAGGAGGAGGTT GCTGTGAGCCGAGATCGCACCACTGCACTACAGCCTGGGCGACAGAGCAA GACTCTGTCTCAAAAAAAAAAAAAGATACTTCCTATTTTTGAAAGCATTT TCCATGGGTTAATATTTAGCTCCTAAGTTAAGTAGGTTTTTTTTTTTGTT TTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACCTGTCACCCAGGCTGG AGTGCAGTGGCCCGATCTCGGCTCACTGCAAGCCCTGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGTGCCCA CCACCACACCTGGCTGATTTTTTGTATTTTTAGTAGAGACTGTGTTTCAC CGTGTTAGCCAGGATAGTCTGGATCTCCTGACCTCATGATCCGCCTGCCT TGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCT TAAGTAGGTAGTATTTTAAGGCAAATGGTTCCCTGTGTTTAAGCCTCTGA GTAACATAGGTATGTCATAATGAATTAAAATTCTTATAAGTCAATATGCA CAATCATTTTTATATTTATATATTTTAAATGTATCTGGTAACAAATTGTA CTTTGGCCGGGTACGGTGGCTCATACTTGTAATCCCAACACTTTGGGATG CCAAGGCAGGAGGATTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGG	CDC27	ENSG00000004897.12	transcript	ENST00000066544.8	protein_coding	15/18			chr17	TogoVar
CDC27_chr17_47112703_47194295	47131877	C C	CCCAGGCT others(818): Show CCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCA TCCCAAAGTGTTGGGATTACAAGTATGAGCCACCGTACCCGGCCAAAGTA CAATTTGTTACCAGATACATTTAAAATATATAAATATAAAAATGATTGTG CATATTGACTTATAAGAATTTTAATTCATTATGACATACCTATGTTACTC AGAGGCTTAAACACAGGGAACCATTTGCCTTAAAATACTACCTACTTAAG GCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAG GCAGGCGGATCATGAGGTCAGGAGATCCAGACTATCCTGGCTAACACGGT GAAACACAGTCTCTACTAAAAATACAAAAAATCAGCCAGGTGTGGTGGTG GGCACCTGTAGTCCCAGCTACTCGGGATGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCAGGGCTTGCAGTGAGCCGAGATCGGGCCACTGCACTCC AGCCTGGGTGACAGGTCTCAAAACAAACAAACAAACAAACAAACAAAAAA CAAAAAAAAAACCTACTTAACTTAGGAGCTAAATATTAACCCATGGAAAA TGCTTTCAAAAATAGGAAGTATCTTTTTTTTTTTTTTGAGACAGAGTCTT GCTCTGTCGCCCAGGCTGTAGTGCAGTGGTGCGATCTCGGCTCACAGCAA CCTCCTCCTTCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAG CTGGAATTACAGGCGTGTGCCACCACGCCTAGCTAGTTTTTGTATTTTTA GTAAAAATGGGGTTTCACCATGTTTG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	358	0.0028	825	c.203 others(842): Show c.2031+379_2031+380insCAAACATGGTGAAACCCCATTTTTACTA AAAATACAAAAACTAGCTAGGCGTGGTGGCACACGCCTGTAATTCCAGCT ACTCGGGAAGCTGAGGCAGGAGAATTGCTTGAACCCAGAAGGAGGAGGTT GCTGTGAGCCGAGATCGCACCACTGCACTACAGCCTGGGCGACAGAGCAA GACTCTGTCTCAAAAAAAAAAAAAAGATACTTCCTATTTTTGAAAGCATT TTCCATGGGTTAATATTTAGCTCCTAAGTTAAGTAGGTTTTTTTTTTGTT TTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACCTGTCACCCAGGCTGG AGTGCAGTGGCCCGATCTCGGCTCACTGCAAGCCCTGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGTGCCCA CCACCACACCTGGCTGATTTTTTGTATTTTTAGTAGAGACTGTGTTTCAC CGTGTTAGCCAGGATAGTCTGGATCTCCTGACCTCATGATCCGCCTGCCT TGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCT TAAGTAGGTAGTATTTTAAGGCAAATGGTTCCCTGTGTTTAAGCCTCTGA GTAACATAGGTATGTCATAATGAATTAAAATTCTTATAAGTCAATATGCA CAATCATTTTTATATTTATATATTTTAAATGTATCTGGTAACAAATTGTA CTTTGGCCGGGTACGGTGGCTCATACTTGTAATCCCAACACTTTGGGATG CCAAGGCAGGAGGATTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGG	CDC27	ENSG00000004897.12	transcript	ENST00000066544.8	protein_coding	15/18			chr17	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(818): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGA AGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTG AAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAAC ACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGT AGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTG CAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTT TGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATCCTAG AGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAA GTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTT TCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTA TACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATATGTA TGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATAAATT TAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCAT ACTACATATATATATATATATATATATATATATATATATATATATATTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGA AGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18955.hp1 NA18967.hp2 others(3): Show NA18950.hp1 NA18955.hp1 NA18967.hp2 NA18970.hp2 NA18984.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0207 a0001c0001t0002g0219 a0001c0001t0002g0220 others(3): Show a0001c0001t0002g0207 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0247 a0001c0001t0004g0210	6	336	0.0179	825	c.248 others(842): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAA GGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAG ATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGA CAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAAT GGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGA GGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCC TTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACT TGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGAT GGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAAT TAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCAT AGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATT TTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGG GCAATACATCCATACTACATATATATATATATATATATATATATATATAT ATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTG TTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(818): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGA AGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0212 a0001c0001t0004g0212	1	336	0.0030	825	c.248 others(842): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTG TTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(818): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGA AGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0300 a0001c0001t0009g0300	1	336	0.0030	825	c.248 others(842): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTG TTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(818): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGA AGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	336	0.0030	825	c.248 others(842): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTG TTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
COL18A1_chr21_45400165_45518720	45500533	A A	AGGGTGTG others(818): Show AGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGT GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGTTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG GGGTGTGTTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTTGGGTGTGTAGTGTGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18944.hp1 NA18949.hp1 others(9): Show HG00621.hp1 NA18944.hp1 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18959.hp1 NA18961.hp1 NA18983.hp2 NA19007.hp1 NA19065.hp1 NA19070.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0061 others(2): Show a0001c0001 a0001c0002 a0001c0061 a0001c0081 a0003c0010	a0001c0001t0001 a0001c0002t0002 a0001c0061t0001 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0061t0001 a0001c0081t0003 a0003c0010t0002	a0001c0001t0001g0093 a0001c0001t0001g0124 a0001c0001t0001g0187 others(9): Show a0001c0001t0001g0093 a0001c0001t0001g0124 a0001c0001t0001g0187 a0001c0001t0001g0228 a0001c0001t0001g0246 a0001c0001t0001g0258 a0001c0002t0002g0104 a0001c0002t0002g0269 a0001c0002t0002g0283 a0001c0061t0001g0257 a0001c0081t0003g0154 a0003c0010t0002g0151	12	292	0.0411	825	c.268 others(844): Show c.2683+3073_2683+3074insGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG TGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGTTTTGGTGTGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGTTTTGGTGTGTGTGTGTTGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
CPNE4_chr3_131528569_132040014	131978292	T T	TTTATATA others(818): Show TTTATATATATTTATATATATATTTATATATATTTATATTTATATATATA TTTATATATATTTATATTTATATATATATTTTTATATATATTTATATATA TTTATATTTATATATATATTTTTATATATATTTATATATATTTATATTTA TATTTTTATATATATTTATATATATTTATATTTATATATATTTATATATA TATTTATATATATATTTATATATATATATTTATATATATATTTATATATT TATATATATATTTATATATTTATATATATATATTTTTATATATTTTTATA TATATATTTATATATATATATTTATATATATATATTTATATATTTATATA TTTATATATATTTATATATATATTTATATATATTTATATATATATTTATA TATATTTATATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATTTATATATATATTTATATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATATA TTTATATATATTTATATATATATTTATATATATATATTTATATATATATA TTTATATATATATATTTATATATATATTTATATATTTATATATATTTATA TATTTATATATATTTATATATATATTTATATATTTATATATATATTTATA TATTTATATATATTTATATATATATTTATATATTTATATATATTTATATA TATTTATATATATATTTATATATTTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	94	0.0106	825	c.-2+ others(842): Show c.-2+56274_-2+56275insTAAATATATAAATATATATATAAATATA TATAAATATATATAAATATATAAATATATATATAAATATATATAAATATA TAAATATATATATAAATATATAAATATATATATAAATATATATAAATATA TAAATATATATAAATATATAAATATATATATAAATATATATATATAAATA TATATATATAAATATATATATATAAATATATATATAAATATATATAAATA TATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TATAAATATATATATAAATATATATATAAATATATATAAATATATATATA AATATATATATAAATATATATAAATATATATATAAATATATATATAAATA TATATAAATATATATATAAATATATATATAAATATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATATAAATATATATAAATA TATAAATATATAAATATATATATATAAATATATATATATAAATATATATA TAAAAATATATAAAAATATATATATATAAATATATAAATATATATATAAA TATATAAATATATATATAAATATATATATATAAATATATATATAAATATA TATATAAATATATATAAATATAAATATATATAAATATATATAAAAATATA AATATAAATATATATAAATATATATAAAAATATATATATAAATATAAATA TATATAAATATATATAAAAATATATATATAAATATAAATATATATAAATA TATATATAAATATAAATATATATAAATATATATATAAATATATATAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(818): Show GCTATAACCATCACCACTACCACTACTACCACTACTACAACCATTACCAC CATCACTGCTATAACCACCACCACCACCACCATTATCACCATCACCATCA CACACCACAACTACCACCACCACCACCATCACCACTATAACCACTAGCAC CACCACCACTACTATAACCATCACCACCGCTATAACCACCATCACCACCA CCACTACCACTACTACAACCATTACCACCATCACTGCTATAACCACCACC ACCACCACTATAACCATCACCACCATCACCACTATAACCACCACTACCAC CACCACCACTATAACCACCACCACCACCACTATAACCACCATCATCATCA CCACCACTACCACTACTACAACCATTACCACCATCACTGCTATAACCACC ACCACCATTATAACCATCACCACCACCACTATAACCACCATCATCATCAC CACCACTACCACTACTATAACCATTACCACCATTACTACTATAACCACCA CCACCACCACCACCACCACTATAATCATTACCACTATAACCACCACTACC ACCACTACCACTATGATAACCATCACCAACACCACTATAACCACCAATGC CAAGAAGTGTTCATAGCAGGAGTCATAAACACAGGACCAACCAGGGATAG GACCAACCAGGACCAACCAGGACCAACACCACCACCACTACTACCACTAC TATAACCATCACCACCATCACTGCTATAATCACCACCACCACCACCATCA CTATAATCATCACCATCATCACCACTATAACCACCACCACCACCACCACC ACCAGTTATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19240.hp1 HG03209.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0022 a0001c0001t0014 a0001c0001t0022	a0001c0001t0014g0084 a0001c0001t0022g0076 a0001c0001t0014g0084 a0001c0001t0022g0076	2	230	0.0087	825	c.724 others(844): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TGGTGGTTATAGTAGTAATGGTGGTAATGGTTATAGTAGTGGTAGTGGTG GTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGT GGTGGTTATAGCAGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTGGTGG TGATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTG GTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGT GGTGGTGGTTATAGCAGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTGG TGGTGGTGATGGTGGTTATAGCGGTGGTGATGGTTATAGTAGTGGTGGTG GTGCTAGTGGTTATAGTGGTGATGGTGGTGGTGGTGGTAGTTGTGGTGTG TGATGGTGATGGTGATAATGGTGGTGGTGGTGGTGGTTATAGCAGTGATG GTGGTAATGGTTGTAGTAGTGGTAGTAGTGGTAGTGGTGATGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DIP2C_chr10_269201_694668	478071	A A	AGAGAGGG others(818): Show AGAGAGGGGAAGGGAGGGGAAGAGAGGGGAAGGGAGGGGGAAAAGAAGAG AGGGGAAGGGAAGGGAGGGGAAAAGAAGAGGGGAAGGGAGGGGAGGGGAA AAGAAGAGAGGGGAAGGGAGGGGAGGGGAGGGGAAAAGAAGAGAGGGGAA GGGAGGGGAGAGGAGGGGAGGGGAAGGGAAAAGAAGAGGGGAAGGGAGAG GAGGGGAGGGGAAAGAAGAGAGGAAGGGAGGGGAGGGGAGGGGAGGGGAG GAGAGAAGAAGGGAGGGGAAGGGAGAGGGAAGAGAGAAGAAGGAAGAGAG AAGAAGGGAGAGAGAAGAAAGGAGGGGAAGGGAGAGGGAAGAGAGAAGAA GGGAGGGAAAGGGAGGGGAAGGGAGGAGAAGGGAAGGGAGGAGAGAAGAA GGGAGGGGAAGGGAGGGGAAGGGAGGGGAAGGAAGGGGAAGGGAGGGGAA GGGAAGGGAGGAGAGAAGAAGGGAGGGGAAGGGAGGGGAAGGGAGGGGAG GAGAGAAGAAGAGAGGGGAAGGGAGGGGAGAGAGAAGGAGGGAGGAAAGG AGGGAGGAGAGGAGGGGAGGAGGGAGGAGAGGAGGGGGAGGAGGGAGGGG AGGGGAGGGGAGGGGGAGGGGAGGAGGGAGGGGAGGGGAGGGGAGGAGGG AGGGGAGGAGGGAGGGGGAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG AGGGAGGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGGGAGGGGAGGAGGG AGGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGA GGAGGGGAGGGGAGGGGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	88	0.0114	825	c.158 others(842): Show c.158-5523_158-5522insCCTCCCTCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCCTCCTCCCCTCCCCTCCCTCCTCCCCTCCCCTCCCCTCC CTCCTCCCCTCCCCCCTCCCCTCCCTCCTCCCCTCCCCTCCCCTCCCTCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCTCCCCCTCCCTCCTCCCCTCC CTCCTCCCCTCCCCTCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCTCCTCCCCCTCCTCTCCTCCCTCCTCCCCTCCTCTCCTCCCTCC TTTCCTCCCTCCTTCTCTCTCCCCTCCCTTCCCCTCTCTTCTTCTCTCCT CCCCTCCCTTCCCCTCCCTTCCCCTCCCTTCTTCTCTCCTCCCTTCCCTT CCCCTCCCTTCCCCTTCCTTCCCCTCCCTTCCCCTCCCTTCCCCTCCCTT CTTCTCTCCTCCCTTCCCTTCTCCTCCCTTCCCCTCCCTTTCCCTCCCTT CTTCTCTCTTCCCTCTCCCTTCCCCTCCTTTCTTCTCTCTCCCTTCTTCT CTCTTCCTTCTTCTCTCTTCCCTCTCCCTTCCCCTCCCTTCTTCTCTCCT CCCCTCCCCTCCCCTCCCCTCCCTTCCTCTCTTCTTTCCCCTCCCCTCCT CTCCCTTCCCCTCTTCTTTTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTT CCCCTCTCTTCTTTTCCCCTCCCCTCCCCTCCCTTCCCCTCTCTTCTTTT CCCCTCCCCTCCCTTCCCCTCTTCTTTTCCCCTCCCTTCCCTTCCCCTCT CTTCTTTTCCCCCTCCCTTCCCCTCTCTTCCCCTCCCTTCCCCTCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar

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Search Results (Total: 7053 hits)