Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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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
EXD3_chr9_137301896_137428162	137350298	G G	GCTAGATA others(723): Show GCTAGATAGAGAGGGGTGGGGATCACGGGGAGGGTTCTAGATAGAGAGGG GTGGGGATCACGGGGAGGGTTCTAGATAGAGAGGGGTGGGGATCACGGGG AAGGTTCTAGATAGAGAGGGGTGGGGATCACGGGAAGGGGGAGAGATAGA GAGGGGTGGGGATCACGGGGAGGGGGAGAGATAGGGGTGGGGATCACGGG GAGGGGGCGAGATAGAGAGGGGTGGGGATCACGGGGAAGGTTCTAGATAG AGAGGGATGGGGAACACGGGGAAGGTGCTAGATAGAGAGGGGTGGGGATT ACGGGGAGAGAGCTAGATAGAGAGGGGTGGGGATCACGGGGAGGGTTCTA GATAGAGAGGGGTGGGGATCACGGGGAGGGTTCTAGATAGAGAGGGGTGG GGATCACGGGGAAGGTTCTAGATAGAGAGGGATGGGGATCACGGGGAAGG TGCTAGATAGAGAGGGGTGGGGATTACGGGGAAGGTTCTAGATAGAGAGG GGTGGGGATCACGGGGAGGGTTCTAGATAGAGAGGGGTGGGGATCACGGG GAAGGTTCTAGATAGAGAGGGATGGGGATCACGGGGAAGGTGCTAGATAG AGAGGGGTGGGGATTATGGGGAGGGGTTAGATAGAGAGGGGTGGGGATCA TGGGGAGGGTTCTAGATAGAGAGGGGTGGGGATCACGGGGAGGGTTCTAG ATAGAGAGGGGTGGGGATCACGGGGAGGGTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0029 a0029	a0029c0036 a0029c0036	a0029c0036t0001 a0029c0036t0001	a0029c0036t0001g0003 a0029c0036t0001g0003	1	82	0.0122	730	c.149 others(747): Show c.1494+739_1494+740insAACCCTCCCCGTGATCCCCACCCCTCTC TATCTAGAACCCTCCCCGTGATCCCCACCCCTCTCTATCTAGAACCCTCC CCATGATCCCCACCCCTCTCTATCTAACCCCTCCCCATAATCCCCACCCC TCTCTATCTAGCACCTTCCCCGTGATCCCCATCCCTCTCTATCTAGAACC TTCCCCGTGATCCCCACCCCTCTCTATCTAGAACCCTCCCCGTGATCCCC ACCCCTCTCTATCTAGAACCTTCCCCGTAATCCCCACCCCTCTCTATCTA GCACCTTCCCCGTGATCCCCATCCCTCTCTATCTAGAACCTTCCCCGTGA TCCCCACCCCTCTCTATCTAGAACCCTCCCCGTGATCCCCACCCCTCTCT ATCTAGAACCCTCCCCGTGATCCCCACCCCTCTCTATCTAGCTCTCTCCC CGTAATCCCCACCCCTCTCTATCTAGCACCTTCCCCGTGTTCCCCATCCC TCTCTATCTAGAACCTTCCCCGTGATCCCCACCCCTCTCTATCTCGCCCC CTCCCCGTGATCCCCACCCCTATCTCTCCCCCTCCCCGTGATCCCCACCC CTCTCTATCTCTCCCCCTTCCCGTGATCCCCACCCCTCTCTATCTAGAAC CTTCCCCGTGATCCCCACCCCTCTCTATCTAGAACCCTCCCCGTGATCCC CACCCCTCTCTATCTAGAACCCTCCCCGTGATCCCCACCCCTCTCTATCT AG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	14/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137355561	A A	ATGGAGGA others(723): Show ATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGA AGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGAGAAAGGGAGGAAGGAGAA GAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAG GAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGAAAGGAGGAAGGGAGGAA GGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGAAG AGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGG AGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGAAGAGGAAGGAGGAAGGAG GAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAG AAAGGGAGGAAGGAGAAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGA GGAAGGAGGAAGGAGAAAGGGAGGAAGGAGAAAGGAGGAAGGGAGGATGG AGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGA GAAAGGGAGGAAGGAGAAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGG AGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGA GGAAGGAGAAAGGGAGGAAGGAGAAAGGAGGAAGGGAGGAAGGAGGAAGG AGGAAGGAGGAAGGAGGAAGGAGGATGGAGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0023 a0004c0007t0001g0023	1	82	0.0122	730	c.757 others(745): Show c.757+706_757+707insCCTCCATCCTCCTTCCTCCTTCCTCCTTCC TCCTTCCTCCTTCCTCCCTTCCTCCTTTCTCCTTCCTCCCTTTCTCCTTC CTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCC TCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTTCTCCTTCCTCCCTTT CTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCC TCCATCCTCCCTTCCTCCTTTCTCCTTCCTCCCTTTCTCCTTCCTCCTTC CTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTTCTCCTTCCTCCCTT TCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTT CCTCCTTCCTCCTTCCTCTTCTCCTTCCTCCCTTTCTCCTTCCTCCTTCC TCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCC TCTTCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTC CTTCCTCCCTTCCTCCTTTCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCT CCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCT CTTCTCCTTCCTCCCTTTCTCCTTTCTCCTTCCTCCTTCCTCCTTCCTCC TTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FOXK2_chr17_82514732_82609602	82586551	A A	AGGGGAAA others(723): Show AGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGAGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGGGGGG GAAAGGAGGAGAGGGGGGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGG AAAGGAGGAGAGGGGGGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGAAAGGAG GAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGAGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGGGGGGGAAAGGAGGAG AGGGGGGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGA GGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAG GGGGGACCACAGGGAGGTCAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTCAAAGGTAGGCGGGG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	308	0.0033	730	c.157 others(747): Show c.1576+368_1576+369insGGAGACCACAGGGAGGTCAAAGGTGGGC GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCG GAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGG GGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTCAAAGGTGGGCCGGG GGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTCAAAGGTGGGCGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGAGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGGGGGGGAAAGGA GGAGAGGGGGGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAG GAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGG AGAGGGGGGACCACAGGGAGGTCAAAGGTGGGCGGAGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGGGGGGGAAAGGAGGAGA GG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(723): Show TCCCCTTTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCT CTCTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCT CCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCCTTC CCCCCTCTCCCTCCCTACCCTCTCCCCCCTCTCCCTCCCTCCCCTCACCC CCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCCTCTCCCT CCCCCTCCCTCCCTCTCCCTCTCTCCCCCCTCCCCCTCTCCCTCTTTCTC CTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTTTCTCC TTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCTC TCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTCC CCCCCCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCC TGCCCTCTCCCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTC TCCCCCTCCTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCCC TTTCCCTCCCTCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCCTCCCC CCTCTCCCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTC TCCCACTCTCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01070.hp1 HG01071.hp2 HG00323.hp1 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0005 a0001c0002t0002g0061 a0001c0002t0001g0005 a0001c0002t0002g0061	3	230	0.0130	730	c.126 others(747): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGAGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAGGG AAAGGGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGG GGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGAGAGG GCAGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGGG GGGGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGG AGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGG GAAGGAGAAAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGG AAGGAGAAAGAGGGAGAGGGGGAGGGGGGAGAGAGGGAGAGGGAGGGAGG GGGAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGA GGGGGGTGAGGGGAGGGAGGGAGAGGGGGGAGAGGGTAGGGAGGGAGAGG GGGGAAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGG GGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGA GAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGAAAGG GG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(723): Show TCCCCTTTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCT CTCTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCT CCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCCTTC CCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCCCTCAC CCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCCTCTCC CTCCCCCTCCCTCCCTCTCCCTCTCCCCCCTCCCCCTCTCCCTCTTTCTC CTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTTTCTCC TTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCTC TCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTCC CCCCCCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCC TGCCCTCTCCCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTC TCCCCCTCCTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCCC TTTCCCTCCCTCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCCTCCCC CCTCTCCCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTC TCCCACTCTCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	230	0.0044	730	c.126 others(747): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGAGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAGGG AAAGGGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGG GGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGAGAGG GCAGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGGG GGGGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGG AGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGG GAAGGAGAAAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGG AAGGAGAAAGAGGGAGAGGGGGAGGGGGGAGAGGGAGAGGGAGGGAGGGG GAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGG GGGGTGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGG GGGGAAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGG GGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGA GAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGAAAGG GG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(723): Show TCCCCTTTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCT CTCTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCT CCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCCTTC CCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCCCTCAC CCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCCTCTCC CTCCCCCTCCCTCCCTCTCCCTCTCTCCCCCCTCCCCCTCTCCCTCTTTC TCCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTTTCT CCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCC TCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCT CCCCCCCCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCC CCTGCCCTCTCCCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTC TCTCCCCCTCCTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCC CTTCCCTCCCTCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCCTCCCC CCTCTCCCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTC TCCCACTCTCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01496.hp2 HG01975.hp2 others(1): Show HG01433.hp2 HG01496.hp2 HG01975.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0058 a0001c0001t0004g0006 a0001c0002t0001g0154 a0001c0001t0001g0058 a0001c0001t0004g0006 a0001c0002t0001g0154	4	230	0.0174	730	c.126 others(747): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGAGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAGGG AAGGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGGG AGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGAGAGGGC AGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGGGGG GGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAG AGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGA AGGAGAAAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGGAA GGAGAAAGAGGGAGAGGGGGAGGGGGGAGAGAGGGAGAGGGAGGGAGGGG GAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGG GGGGTGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGG GGGGAAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGG GGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGA GAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGAAAGG GG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(723): Show TCCCCTTTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCT CTCTCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTC CCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCCTTCC CCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCCCTCACC CCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCCTCTCCC TCCCCCTCCCTCCCTCTCCCTCTCTCCCCCCTCCCCTCTCCCTCTTTCTC CTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTTTCTCC TTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCTC TCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTCC CCCCCCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCC TGCCCTCTCCCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTC TCCCCCTCCTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCCC TTTCCCTCCCTCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCCTCCCC CCTCTCCCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTC TCCCACTCTCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	230	0.0044	730	c.126 others(747): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGAGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAGGG AAAGGGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGG GGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGAGAGG GCAGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGGG GGGGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGG AGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGG GAAGGAGAAAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGG AAGGAGAAAGAGGGAGAGGGGAGGGGGGAGAGAGGGAGAGGGAGGGAGGG GGAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAG GGGGGTGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAG GGGGGAAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGG GGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGA GAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGAAAGG GG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(723): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCC CTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCC CTTCCCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCCC TCACCCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCCCTCCCTCT CCCTCCCCCTCCCTCCCTCTCCCTCTCTCCCCCTCTCCCCCTCTCCCTCT TTCTCCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTT TCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCT CTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCC CCTCCCTCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGTCTCC CCCTCTCCCCCCCCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCCTCCCTC TCTCCCCCTGCCCTCTCTCCCCCCTCCCTCTCTCCCCCCTCCCCCTCTTC CCCTCCCTCTCTCCCCCTCCTTCTCCCTCTCTCCCCACCTCCTTCTCCCT CTCTCCCCCCCCTTTCCCTCCCTCTCCCTCTCTCCCTCTCCCCCCTCCCC CCTCTCCCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTC TCCCACCCTCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0217 a0001c0003t0005g0217	1	230	0.0044	730	c.126 others(747): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGAGGGAGAGGGAGGGAAAGGGGGGGGA GAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGA GGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGGAGAGAGGGCAGGGGG AGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGGGGGGGGAGA GGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAGAGAGGG AGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGA AAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGG AGAAAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGGAAGGA GAAAGAGGGAGAGGGGGAGAGGGGGAGAGAGGGAGAGGGAGGGAGGGGGA GGGAGAGGGAGGGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGGGGGG TGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGGGGG AAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGA AAGGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGG GG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GAK_chr4_844277_937316	904431	A A	AACCGAGC others(723): Show AACCGAGCGGGACCCGCACACAGAGGCCTCAGCAGCCGCTACCTTGAGGT CCCTGTGGATGATGGGCGGCTCCTAACCGAGCGGGACCCGCACACAGAGG CCTCAGCAGCCGCTACCTTGAGGTCCCTGTGGATGATGGGCGGCTCCTAA CCGAGCGGGACCCGCACACAGAGGCCTCAGCAGCCGCTACCTTGAGGTCC CTGTGGATGATGGGCGGCTCCTAACCGAGTGGGACCCGCACACAGAGGCC TTGGCAGCCGCGTGTGGAGGGAGCCACTACCTTGAGGTCCCTGTGGATGA TGGGCGGCTCCTGACCGAGCGGGACCCGCACACAGAGGCCTCAGCAGCCG CTACCTTGAGGTCCCTGTGGATGATGGGCGGCTCCTAACCGAGCGGGACC CGCACACAGAGGCCTCAGCAGCCGCTACCTTGAGGTCCCTGTGGATGATG GGCGGCTCCTAACCGAGTGGGACCCGCACACAGAGGCCTTGGCAGCTGCG TGTGGAGGGAGCCACTACCTTGTGGTCCCTGTGGATGATGGGCGGCTCCT AACCGAGTGGGACCCGCACACAGAGGCCTTGGCAGCTGCGTGTGGAGGGA GCCACTACCTTGTGGTCCCTGTGGATGATGGGCGGCTCCTAACCGAGCGG GACCCGCACACAGAGGCCTTGGCAGCCGCGTGTGGAGGGAGCCACTACCT TGAGGTCCCTGTGGATGATGGGCGGCTCCTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG02071.hp1 others(11): Show HG00099.hp1 HG00408.hp1 HG02071.hp1 HG02132.hp2 HG02155.hp2 HG03239.hp2 HG03486.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 NA18940.hp1 NA18994.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(11): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0088 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0322	14	390	0.0359	730	c.525 others(745): Show c.525+205_525+206insCAGGAGCCGCCCATCATCCACAGGGACCTC AAGGTAGTGGCTCCCTCCACACGCGGCTGCCAAGGCCTCTGTGTGCGGGT CCCGCTCGGTTAGGAGCCGCCCATCATCCACAGGGACCACAAGGTAGTGG CTCCCTCCACACGCAGCTGCCAAGGCCTCTGTGTGCGGGTCCCACTCGGT TAGGAGCCGCCCATCATCCACAGGGACCACAAGGTAGTGGCTCCCTCCAC ACGCAGCTGCCAAGGCCTCTGTGTGCGGGTCCCACTCGGTTAGGAGCCGC CCATCATCCACAGGGACCTCAAGGTAGCGGCTGCTGAGGCCTCTGTGTGC GGGTCCCGCTCGGTTAGGAGCCGCCCATCATCCACAGGGACCTCAAGGTA GCGGCTGCTGAGGCCTCTGTGTGCGGGTCCCGCTCGGTCAGGAGCCGCCC ATCATCCACAGGGACCTCAAGGTAGTGGCTCCCTCCACACGCGGCTGCCA AGGCCTCTGTGTGCGGGTCCCACTCGGTTAGGAGCCGCCCATCATCCACA GGGACCTCAAGGTAGCGGCTGCTGAGGCCTCTGTGTGCGGGTCCCGCTCG GTTAGGAGCCGCCCATCATCCACAGGGACCTCAAGGTAGCGGCTGCTGAG GCCTCTGTGTGCGGGTCCCGCTCGGTTAGGAGCCGCCCATCATCCACAGG GACCTCAAGGTAGCGGCTGCTGAGGCCTCTGTGTGCGGGTCCCGCTCGGT	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	5/27			chr4	TogoVar
GAS6_chr13_113815549_113869076	113824128	C C	CCCGCGGT others(723): Show CCCGCGGTCTGAGTTCTGAGCTGTCAGGAGCACCTGCGGTCTGGGATCTG AGCTGTCAGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCAGGAGCACCCG CGGTCTGAGTTCTGAGCTGTCAGGAGCACCCGCGGTCTGAGTTCTGAGCT GTCAGGAGCACCTACGGTCTGGGATCTGAGCTGTCAGGAGCACCTGCGGT CTGGGATCTGAGCTGTCAGGAGCACTTGCGGTCTGGGGTCTGAGCTGTCA GGAGCATGCGCGGTCTGGGGTCTGAGCTGTCAGGAGCACCCGCGGTCTGG GGTCTGTCAGGAGCACACGCGGTCTGGGGTCTGAGCTGTCAGGAGCACCT GCGGTCTGAGTTCTGAGCTGTCAGGAGCACGCACGGTCTGGGGTCTGAGC TGTCAGGAGCACGCGCGGTCTGGGATCTGAGCTGTCAGGAGCACGCGCGG TCTGGGATCTGAGCTGTCAGGAGCACTGTGGTCTGGGGTCTGAACTGTCA GGAGCATGCGCGGTCTGGGGTCTGAACTGTCAGGAGCATGCGCGGTCTGG GGTCTGAGCTGTCAGGAGCACCTGCGGTCTGGGGTCTGAGCTGTCAGGAG CACCTGCGGTCTGGGGTCTGAGCTGTCAGGAGCACCTGCGGTCTGGGGTC TGAGCTGTCAGGAGCACTATGGTCTGGGATCTGAGCTGTCAGGAGCACGC GCGGTCTGGGGTCTGAGCTGTCAGGAGCACG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	143	0.0070	730	c.147 others(747): Show c.1478-579_1478-578insCGTGCTCCTGACAGCTCAGACCCCAGAC CGCGCGTGCTCCTGACAGCTCAGATCCCAGACCATAGTGCTCCTGACAGC TCAGACCCCAGACCGCAGGTGCTCCTGACAGCTCAGACCCCAGACCGCAG GTGCTCCTGACAGCTCAGACCCCAGACCGCAGGTGCTCCTGACAGCTCAG ACCCCAGACCGCGCATGCTCCTGACAGTTCAGACCCCAGACCGCGCATGC TCCTGACAGTTCAGACCCCAGACCACAGTGCTCCTGACAGCTCAGATCCC AGACCGCGCGTGCTCCTGACAGCTCAGATCCCAGACCGCGCGTGCTCCTG ACAGCTCAGACCCCAGACCGTGCGTGCTCCTGACAGCTCAGAACTCAGAC CGCAGGTGCTCCTGACAGCTCAGACCCCAGACCGCGTGTGCTCCTGACAG ACCCCAGACCGCGGGTGCTCCTGACAGCTCAGACCCCAGACCGCGCATGC TCCTGACAGCTCAGACCCCAGACCGCAAGTGCTCCTGACAGCTCAGATCC CAGACCGCAGGTGCTCCTGACAGCTCAGATCCCAGACCGTAGGTGCTCCT GACAGCTCAGAACTCAGACCGCGGGTGCTCCTGACAGCTCAGAACTCAGA CCGCGGGTGCTCCTGACAGCTCAGACCCCAGACCGCGGGTGCTCCTGACA GCTCAGATCCCAGACCGCAGGTGCTCCTGACAGCTCAGAACTCAGACCGC GG	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(723): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATATATATAAATATATATATTTATATTTATTTATATATA TAAATATATATATTAATATATATTTATATATATAAATATATATATTTATA TATAAATATATATTTATGTATATTTATATATAAATATATATATTTATATA TATAAATATATATATTTATATATAAATATATATATTTATATATAAATATA TATATAAATATATATATTTATATATAAATATATATATTTATATATAAATA TATATATTTATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATAAATATATA TATATTTATATTTACAAATATATATATTTATATATATATTTATATTTATA TATATTTATATTTATATATATATATATAAATATATATTTATGTATATTTA TATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	208	0.0048	730	c.-97 others(747): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATATATATAAATATATATATTTATATTTATTT ATATATATAAATATATATATTAATATATATTTATATATATAAATATATAT ATTTATATATAAATATATATTTATGTATATTTATATATAAATATATATAT TTATATATATAAATATATATATTTATATATAAATATATATATTTATATAT AAATATATATATAAATATATATATTTATATATAAATATATATATTTATAT ATAAATATATATATTTATATATATATTTATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATAAATATATATATTTATATATATAA ATATATATATATTTATATTTACAAATATATATATTTATATATATATTTAT ATTTATATATATTTATATTTATATATATATATATAAATATATATTTATGT ATATTTATATATAAATATAAATATATATTTATATATAAATATAAATATAT AT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(723): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATAAATATATATTTATGTATATTTATATA TAAATATATATATTTATATATATAAATATATATATTTATATATAAATATA TATATTTATATATAAATATATATATAAATATATATATTTATATATAAATA TATATATTTATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATAAATATATA TATATTTATATTTACAAATATATATATTTATATATATATTTATATTTATA TATATTTATATTTATATATATATATATAAATATATATTTATGTATATTTA TATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0107 a0001c0001t0004g0107	1	208	0.0048	730	c.-97 others(747): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATAAATATATATTTATGTATAT TTATATATAAATATATATATTTATATATATAAATATATATATTTATATAT AAATATATATATTTATATATAAATATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATATATTTATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATAAATATATATATTTATATATATAA ATATATATATATTTATATTTACAAATATATATATTTATATATATATTTAT ATTTATATATATTTATATTTATATATATATATATAAATATATATTTATGT ATATTTATATATAAATATAAATATATATTTATATATAAATATAAATATAT AT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(723): Show TAGTAACTATATTAATAATATAGTATATTAATATATAGTAACTATATTAA TATATAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0200 a0003c0003t0002g0200	1	268	0.0037	730	c.-28 others(741): Show c.-2852_-2851insAGTAACTATATTAATAATATAGTATATTAATATA TAGTAACTATATTAATATATAGTAACTATATTAATATAGTTAGTATATAT TAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGT AACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA TAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTA GTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATA TATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTA TATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATA TAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATA TTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAG TAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTA ATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTT AGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
GRM4_chr6_34013643_34151087	34073265	C C	CCCCACAC others(723): Show CCCCACACACAGACTCACACATCACCACACAGATACACAACACACACACA TATCACACAGATACAGACCACACACACACACAATCACCACATACACACCA CACACACACACACATCACCACATAGATACACACCACACACACATCACCAT ACAGATACACACCACACACACATCTCCACACATTACCATACAAATATACG CCATCCACACACACCCACACATCACCACACAGATACACACCACAGACACA TAATCACCACACACCACACAGACACACACATCACCACACAGATACACACC ACACACACCCCCATACATCACCACACAGATACACACCACGCACCACACAG ATACACACCACACACACCCACACATCACCACACAGATACATACCACACAC ACACACAATCACCACACACCACCACACAGGTACAAACCCACAAATCACCA CACAGATACACACCCCACACAGACACATGCACATACATCACACACACACC ACACACACACATCGCCACACAGACACACACCCACATCACCACACAGCTAC ATACCACACACACACACCACCACACATCACCACACAGATGCACAACACAC ACCCACACATCACCACACAGACACACACACACACATCATCAGATACACAC CACATGCACGTCACCACACAGATACCACACACACGTCATCGGATACACAC CACGCACACGTCACCACACAGATACCACACA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02647.hp1 HG01106.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0006t0034 a0001c0001t0003 a0001c0006t0034	a0001c0001t0003g0093 a0001c0006t0034g0031 a0001c0001t0003g0093 a0001c0006t0034g0031	2	282	0.0071	730	c.737 others(749): Show c.737-11238_737-11237insTGTGTGGTATCTGTGTGGTGACGTGT GCGTGGTGTGTATCCGATGACGTGTGTGTGGTATCTGTGTGGTGACGTGC ATGTGGTGTGTATCTGATGATGTGTGTGTGTGTGTCTGTGTGGTGATGTG TGGGTGTGTGTTGTGCATCTGTGTGGTGATGTGTGGTGGTGTGTGTGTGT GGTATGTAGCTGTGTGGTGATGTGGGTGTGTGTCTGTGTGGCGATGTGTG TGTGTGGTGTGTGTGTGATGTATGTGCATGTGTCTGTGTGGGGTGTGTAT CTGTGTGGTGATTTGTGGGTTTGTACCTGTGTGGTGGTGTGTGGTGATTG TGTGTGTGTGTGGTATGTATCTGTGTGGTGATGTGTGGGTGTGTGTGGTG TGTATCTGTGTGGTGCGTGGTGTGTATCTGTGTGGTGATGTATGGGGGTG TGTGTGGTGTGTATCTGTGTGGTGATGTGTGTGTCTGTGTGGTGTGTGGT GATTATGTGTCTGTGGTGTGTATCTGTGTGGTGATGTGTGGGTGTGTGTG GATGGCGTATATTTGTATGGTAATGTGTGGAGATGTGTGTGTGGTGTGTA TCTGTATGGTGATGTGTGTGTGGTGTGTATCTATGTGGTGATGTGTGTGT GTGTGTGGTGTGTATGTGGTGATTGTGTGTGTGTGTGGTCTGTATCTGTG TGATATGTGTGTGTGTTGTGTATCTGTGTGGTGATGTGTGAGTCTGTGTG TGGG	GRM4	ENSG00000124493.14	transcript	ENST00000538487.7	protein_coding	3/10			chr6	TogoVar
GRM4_chr6_34013643_34151087	34073265	C C	CCCCACAC others(723): Show CCCCACACACAGACTCACACATCACCACACAGATACACAACACACACACA TATCACACAGATACAGACCACACACACACACAATCACCACATAGATACAC ACCACACACACACACACATCACCACATAGATACACACCACACACACATCA CCATACAGATACACACCACACACACATCTCCACACATTACCATACAAATA TACGCCATCCACACACACCCACACATCACCACACAGATACACACCACAGA CACATAATCACCACACACCACACAGACACACACATCACCACACAGATACA CACCACACACACCCCCATACATCACCACACAGATACACACCACGCACCAC ACAGATACACACCACACACACCCACACATCACCACACAGATACATACCAC ACACACACACAATCACCACACACCACCACACAGGTACAAACCCACAAATC ACCACACAGATACACACCCCACACAGACACATGCACATACATCACACACA CACCACACACACACATCGCCACACAGACACACACCCACATCACCACACAG CTACATACCACACACACCACCACACATCACCACACAGATGCACAACACAC ACCCACACATCACCACACAGACACACACACACACATCATCAGATACACAC CACATGCACGTCACCACACAGATACCACACACACGTCATCGGATACACAC CACGCACACGTCACCACACAGATACCACACA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	282	0.0036	730	c.737 others(749): Show c.737-11238_737-11237insTGTGTGGTATCTGTGTGGTGACGTGT GCGTGGTGTGTATCCGATGACGTGTGTGTGGTATCTGTGTGGTGACGTGC ATGTGGTGTGTATCTGATGATGTGTGTGTGTGTGTCTGTGTGGTGATGTG TGGGTGTGTGTTGTGCATCTGTGTGGTGATGTGTGGTGGTGTGTGTGGTA TGTAGCTGTGTGGTGATGTGGGTGTGTGTCTGTGTGGCGATGTGTGTGTG TGGTGTGTGTGTGATGTATGTGCATGTGTCTGTGTGGGGTGTGTATCTGT GTGGTGATTTGTGGGTTTGTACCTGTGTGGTGGTGTGTGGTGATTGTGTG TGTGTGTGGTATGTATCTGTGTGGTGATGTGTGGGTGTGTGTGGTGTGTA TCTGTGTGGTGCGTGGTGTGTATCTGTGTGGTGATGTATGGGGGTGTGTG TGGTGTGTATCTGTGTGGTGATGTGTGTGTCTGTGTGGTGTGTGGTGATT ATGTGTCTGTGGTGTGTATCTGTGTGGTGATGTGTGGGTGTGTGTGGATG GCGTATATTTGTATGGTAATGTGTGGAGATGTGTGTGTGGTGTGTATCTG TATGGTGATGTGTGTGTGGTGTGTATCTATGTGGTGATGTGTGTGTGTGT GTGGTGTGTATCTATGTGGTGATTGTGTGTGTGTGTGGTCTGTATCTGTG TGATATGTGTGTGTGTTGTGTATCTGTGTGGTGATGTGTGAGTCTGTGTG TGGG	GRM4	ENSG00000124493.14	transcript	ENST00000538487.7	protein_coding	3/10			chr6	TogoVar
IFT140_chr16_1505427_1617072	1599478	C C	CAGCCCCC others(723): Show CAGCCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCAC CCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC TGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGCCGCCCC GTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGT CGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC GGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGGG CCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0008 a0002c0003t0003g0008	1	334	0.0030	730	c.369 others(747): Show c.369+2891_369+2892insCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGC TGGCCCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCA GACGGGGCGGCTGGCCGGACGGAGGGCTGACCCCCCCACCTCCCTCCCGG ACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCATCTCCCTCCCGGA CGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGAC GGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGG CT	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IQSEC3_chr12_61767_183455	163282	A A	ACAGAACC others(723): Show ACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCC CCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTC CCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACC GGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCT CCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGG ACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCCTC CTCAGAACCGGACCCCTCCCCTCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0058 a0001c0004t0058	a0001c0004t0058g0185 a0001c0004t0058g0185	1	282	0.0036	730	c.258 others(747): Show c.2584-202_2584-201insGCCCTCCCCTCCCCTCCCTCCACAGAAC CGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCC TCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCC TCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCC TCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCC CTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGA ACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCC CCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCG GAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTC CCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACC CCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTC CACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTC CCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCG GA	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163282	A A	ACAGAACC others(723): Show ACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCC CCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTC CCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACC GGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCT CCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCTCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGG ACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCCTC CTCAGAACCGGACCCCTCCCCTCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0020 a0003c0010t0020	a0003c0010t0020g0078 a0003c0010t0020g0078	1	282	0.0036	730	c.258 others(747): Show c.2584-202_2584-201insGCCCTCCCCTCCCCTCCCTCCACAGAAC CGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCC TCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCC TCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCC TCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCC CTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGA ACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCC CCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCG GAGCTCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTC CCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACC CCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTC CACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTC CCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCG GA	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(723): Show CCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTC CTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGG ACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCC CTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCC CCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAG AACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCC TCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGA CCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCC TCCACAGAACTGGACCCCTCCCCTGTCCCCT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0039 a0001c0003t0039	a0001c0003t0039g0116 a0001c0003t0039g0116	1	282	0.0036	730	c.258 others(747): Show c.2584-107_2584-106insACCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCC CTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCC ACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCC CCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTC TCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCT CCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCC TCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCA CAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCC CTCTCCTCCCTCCACAGAACTGGACCCCTCCCCTGTCCCCTCACAGAACC GG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(723): Show CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCC TCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCC CTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCC CCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAG AACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCC TCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGA CCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCC TCCACAGAACTGGACCCCTCCCCTGTCCCCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0027 a0002c0001t0004g0027	1	282	0.0036	730	c.258 others(747): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGG ACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCC CTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCC CCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTC TCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCT CCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCC TCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCA CAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCC CTCTCCTCCCTCCACAGAACTGGACCCCTCCCCTGTCCCCTCACAGAACC GG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400231	C C	CTCCTCCC others(723): Show CTCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCT CCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTG CCCTCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCCTCC CCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCTCCTGCCCCCTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCTGCCTCCTGCCCCCTCCCCT CCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTC CCCTCCTGCCCCCTCCCCTCCCTGCCCCTCCTCCCCTCCTGCCCTCCTGC CCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCCCTCCTGCCCCTT CCCCTGCCCTCCTGCCCCCTCCCCTCCCTGCCCCCCTCCCCTCCTGCCCT GCCCCCTCCCCCCTCCTGCCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTC CCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCC TCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCC TCCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTT CCTACCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTCCCCTCATGCCCTCC TGCCCCCTCCCCTCCTGCCCCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0171 a0001c0001t0171	a0001c0001t0171g0018 a0001c0001t0171g0018	1	276	0.0036	730	c.66 others(741): Show c.6602_*6603insAGGGGAGGGGGGGGCAGGAGGGGAGGGGGCAGGA GGGCATGAGGGGAGGAGGGGAGGGGGGCAGGAGGGGAGGGGGGTAGGAAG GGAGGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGGAGGGGAGGGGGAGGG GTACAGGAGGGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGCAGGAGGG CAGGAGGGGAAGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAG GGGGCAGGAGGGCAGGAGGGGAGGAGGGGCAGGAGGGGGGAGGGGGCAGG GCAGGAGGGGAGGGGGGCAGGGAGGGGAGGGGGCAGGAGGGCAGGGGAAG GGGCAGGAGGGGAGGGCAGGAGGGGAGGGGGGCAGGAGGGGAGGGGGGCA GGAGGGCAGGAGGGGAGGAGGGGCAGGGAGGGGAGGGGGCAGGAGGGGAG GGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGG GGAGGGGGCAGGAGGCAGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGG AGGGGAGGGGGCAGGAGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGA GGGGGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGAGGGCAG GAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAAGGGGGCAGGAGG GGAGGGGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3243		chr2	TogoVar
JAKMIP3_chr10_132060946_132189858	132172977	T T	TTCCCTCT others(723): Show TTCCCTCTCTCTCCTTCCCTCTCTCTCTCCCTCTCCTTCCCTCTCCCTCC CTCTCTCTCTCCTCTCCTTCCCTCTCTCTCCCCCTCTCCTTCCCTCTCTC TCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTACCTCTCTCTCT CTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCT CTCCCTCTCCTTCCCTCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCTCC CCCTCTCCTTCCTCTCTCTCTCTCTCCCCTCTCCTTCCCTCTCTCTCTCC CCCTCTCCTTCCCTCTCTCTCTCCCCCCCTCTCCTTCCCTCTCTCTCTCT CCCCCTCTCCTTCCCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCT CTCCCCCTCTCCTTCCCTCTCTCCCTCCCCCTCTCCTTCCCTCTCATCCT TCCCCCTCTCCTTCCCCCTCTCCTTCCCCCTCTCCCTCCCCCTCTCCTTC CCTCTCTCCTCCCCATCTCCTTCCCTCTCTCCTCTCCCCCCTCTCCTTCC CTCTCTCTCCCTCTCCCCCTCTCCTTCCCTCTCTCTCCCTCCCTCCCTCT CTCTCCCTCTCCTTCCCTCTCTCTCTCCCCTTCCCTCTCTCTCTCCCCTT CCCTCTCTCTCCCCCTCTCCCTCCCTCTCTCTCCCTCTCCCTCCCTCTCT CTCCCTCTCCCTCCCTCTCCCTCCCTCTCCC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0152 a0001c0019t0001g0152	1	158	0.0063	730	c.11 others(751): Show c.1103+3956_*1103+3957insCTTCCCTCTCTCTCTCCCTCTCCT TCCCTCTCCCTCCCTCTCTCTCTCCTCTCCTTCCCTCTCTCTCCCCCTCT CCTTCCCTCTCTCTCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCT TACCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTC CTTCCCTCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCCCTCTCCTTCCC TCTCTCTCTCTCCCCCTCTCCTTCCTCTCTCTCTCTCTCCCCTCTCCTTC CCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCCCCTCTCCTTC CCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCCTCTCCTTC CCTCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCCCTCCCCCTCTCCT TCCCTCTCATCCTTCCCCCTCTCCTTCCCCCTCTCCTTCCCCCTCTCCCT CCCCCTCTCCTTCCCTCTCTCCTCCCCATCTCCTTCCCTCTCTCCTCTCC CCCCTCTCCTTCCCTCTCTCTCCCTCTCCCCCTCTCCTTCCCTCTCTCTC CCTCCCTCCCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCCCCTTCCCTC TCTCTCTCCCCTTCCCTCTCTCTCCCCCTCTCCCTCCCTCTCTCTCCCTC TCCCTCCCTCTCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTC TCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAM3_chr11_134064072_134157001	134137929	A A	ATAGTCCC others(723): Show ATAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCGAAGTCGTGGTGCTCAT ACTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGCGT CTCGTCAAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAATAG TCCCTTAGAGCCAGTGGTGGTGTCTCGTCTAAGTCATGGTGCTCCTACTG AGAGAAATGTTTATGGCCAGTAGTCCCTTAGAGCCAGTGGTGGCGTCTCG TCGAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAATAGTCCC TTAGAGCCAGTGGTGGCGTCTCGTCGAAGTCGTGGTGCTCATACTGGAAG AAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGCGTCTGGTCGA AGTCGTGGTGCTCATGCTGAGAGAAATGTTTATGGCCACTAGTCCCTTAG AGCCAGTGGTGGTGTCTCGTCGAAGTCGTGGTGCTCATACTGGAAGAAAT GTTTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGTGTCTCGTCGAAGTC GTGGTGCTCATGCTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCC AGTGGTGGCGTCTCGTCAAAGTCGTGGTGCTCATACTGAGAGAAATGTTT ATGGCCAATAGTCCCTTAGAGCCAGTGGTGGTGTCTCGTCTAAGTCATGG TGCTCCTACTGAGAGAAATGTTTATGGCCAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01361.hp2 HG02602.hp2 HG00099.hp1 HG01361.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016	a0001c0001t0002g0128 a0001c0001t0003g0123 a0001c0001t0016g0126 a0001c0001t0002g0128 a0001c0001t0003g0123 a0001c0001t0016g0126	3	390	0.0077	730	c.77- others(745): Show c.77-1835_77-1834insCAGTGGTGGCGTCTCGTCAAAGTCGTGGTG CTCATACTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTGGT GGTGTCTCGTCTAAGTCATGGTGCTCCTACTGAGAGAAATGTTTATGGCC AGTAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCGAAGTCGTGGTGCTCA TACTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGCG TCTCGTCGAAGTCGTGGTGCTCATACTGGAAGAAATGTTTATGGCCAATA GTCCCTTAGAGCCAGTGGTGGCGTCTGGTCGAAGTCGTGGTGCTCATGCT GAGAGAAATGTTTATGGCCACTAGTCCCTTAGAGCCAGTGGTGGTGTCTC GTCGAAGTCGTGGTGCTCATACTGGAAGAAATGTTTATGGCCAATAGTCC CTTAGAGCCAGTGGTGGTGTCTCGTCGAAGTCGTGGTGCTCATGCTGAGA GAAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCA AAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAATAGTCCCTTA GAGCCAGTGGTGGTGTCTCGTCTAAGTCATGGTGCTCCTACTGAGAGAAA TGTTTATGGCCAGTAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCGAAGT CGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGC	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(723): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTGTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCC CTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCC TCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	370	0.0027	730	c.-27 others(741): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGG AGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(723): Show CCACTTACTTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTAC CTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTT ACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGG CCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0064 a0002c0003t0003g0064	1	296	0.0034	730	c.368 others(747): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGT AGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGG GTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCG GCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAAGTAAG TG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(723): Show AAGGGGGGAAGGGGGGAAGGAGGGGAAGGAGGGGGAAGGAGGGGGAAGGA GGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGG GAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGG AAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGG AAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGG GGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGG AGGGGAGGGGGGAGGGGGAGGGTAGGGGGGAGGGGGAGGGGAGGGGGGAG GGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGA GGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGA GGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAG GGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGA GGGGGAGGGAGGGGAGGGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0208 a0002c0002t0004g0208	1	272	0.0037	730	c.250 others(745): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCTCCCCCCTCCCCTCCCCCTCCCCCCTACCCTCCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCT TCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTT TCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCT CCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCC CTCCTTCCCCCTCCTTCCCCCTCCTTCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(723): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTC CCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCAT CCCCTCCTCCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01070.hp1 HG02523.hp2 HG00408.hp1 HG01070.hp1 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0120 a0001c0002t0001g0126 a0001c0002t0001g0049 a0001c0002t0001g0120 a0001c0002t0001g0126	3	140	0.0214	730	c.114 others(749): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTC CTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCT CCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTC CCCT	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(723): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTC CCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCAT CCCCTCCTCCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00642.hp1 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0124 a0001c0002t0001g0135 a0001c0001t0001g0124 a0001c0002t0001g0135	2	140	0.0143	730	c.114 others(749): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTC CTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCT CCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTC CCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(723): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAAAATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATACATATTTCAA TATAAGTATGTATATAAATATACATATTTCAATATAAGTATATAAAAATA TATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAG TATATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAA TATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAA TATATATATTTCAATATAAGTATGTATAAAAATATATATATTTAAATATA AGTATGTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATA TATATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATATAAAAATATATATATTTAAATATAAGTATATATATAAAAATATA TATATTTAAATATAAGTATATATATAAAAAT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0084 a0003c0003t0002g0084	1	326	0.0031	730	c.358 others(747): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAAAATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATACATATTTCAATATAAGTATGTATATAAATATACATATTTCAATATAA GTATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATAT ATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATGT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAAT ATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAA GTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATAT ATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTAT GTATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATATAAAAATATATATATTTAAATATAAGTATAT ATATAAAAATATATATATTTAAATATAAGTATATATATAAAAATATATAT AT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NME4_chr16_392199_405754	397703	G G	GGGGGGTG others(723): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTG AGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGTGGGGGGGTGAGGGAGTCGGGGGGT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	356	0.0028	730	c.91+ others(743): Show c.91+393_91+394insGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(723): Show TAGTAACTATATTAATAATATAGTATATTAATATATAGTAACTATATTAA TATATAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0277 a0002c0002t0001g0277	1	422	0.0024	730	c.195 others(747): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATT ATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGT TACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAA TATAGTTACTATATATTAATATATACTAACTATATTAATATAGTTACTAT ATATTAATATAGTTACTATATATTAATATACTATATTATTAATATAGTTA CT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NXN_chr17_794310_984776	841591	A A	AGCAGGTC others(723): Show AGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCC CGACCACGGCGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCG CATCTCACACCCACAGGCAGGTCCCCCCGACCACAGAGCATCTCACACGG GCAAGCAGGTCCACCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTC CCCCCGACCACAGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCAC GGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCAC ACCCACAGGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCGAGCAG GTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGAC CATGGAGCATCTCACACCCGCGAGCAGGTCCCCCCGACCACGGCGCATCT CACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGA GCAGGTCCACCCTGACCACGGCGCATCTCATGCCGGCGAGCAGGTCCCCC CGACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGC ATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGG GCGAGCAGGTCCACCCTGACCACGGCGCATCTCATGCCGGCGAGCAGGTC CCCCCGACCACGGCGCATCTCACACCCACGG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0043 a0001c0002t0004g0043	1	242	0.0041	730	c.361 others(749): Show c.361-15514_361-15513insCCGTGGGTGTGAGATGCGCCGTGGTC GGGGGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTG CTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGT GAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGT GGTCGGGGGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGA CCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCC GTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCGGGTGTGAGATGCT CCATGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGG TGGACCTGCTCGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCCTG TGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGAT GCTCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCTGTGGTC GGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGTGGACCTG CTTGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCCTGTGGGTGTG AGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCGCCGT GGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGAC CTGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841591	A A	AGCAGGTC others(723): Show AGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCC CCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACAGAG CATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACG GGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACGCCGGCGAGCAGGTC CCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCAC GGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACAGAGCATCTCAC ACGGGCAAGCAGGTCCACCCTGACCACGGAGCATCTCACACGGGCGAGCA GGTCCCCCCGACCACAGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGA CCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATC TCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGA GCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCC CGACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGC ATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGG GCGAGCAGGTCCACCCTGACCACGGCGCATCTCATGCCGGCGAGCAGGTC CCCCCGACCACGGCGCATCTCACACCCACGG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0048 a0001c0001t0005g0048	1	242	0.0041	730	c.361 others(749): Show c.361-15514_361-15513insCCGTGGGTGTGAGATGCGCCGTGGTC GGGGGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTG CTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGT GAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGT GGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGA CCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGG TGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTC CGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCTGTGGTCGGGG GGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGTGGACCTGCTTG CCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGAT GCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCA GGGGGGACCTGCTCGCCGGCGTGAGATGCTCTGTGGTCGGGGGGACCTGC TCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTG AGATGCTCTGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTG GTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGAC CTGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841603	C C	CGACCACG others(723): Show CGACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGC ATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGG CGAGCAGGTCCACCCTGACCACAGCGCATCTCACACGGGCGAGCAGGTCC ACCCTGACCACGGCGCATCTCATGCCGGCGAGCAGGTCCACCCTGACCAC AGCGCATCTCACGCCGGCGAGCAGGTCCACCCTGACCATGGCACATCTCA CGCCGGTGAGCAGGTCCCCCCTGACCACAGCGCATCTCACACGGGCGAGC AGGTCCACCCTGACCACGGCGCATCTCATGCCGGCGAGCAGGTCCACCCT GACCATGGCACATCTCACGCCGGCGAGCAGGTCCCCCCGACCACGGCGCA TCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACCCAC AGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCC CCGACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCG CATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGG GCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGGGCAGGTCC CCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGG CGCATCTCACACGGGCGAGCAGGTCCTCCCT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0158 a0001c0002t0004g0158	1	242	0.0041	730	c.361 others(749): Show c.361-15526_361-15525insAGGGAGGACCTGCTCGCCCGTGTGAG ATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGT CGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTG CTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTG AGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTG GTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACC TGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTG TGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCGTGAGATGTGCCA TGGTCAGGGTGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTG GACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGGGGACCTGCTCAC CGGCGTGAGATGTGCCATGGTCAGGGTGGACCTGCTCGCCGGCGTGAGAT GCGCTGTGGTCAGGGTGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTC AGGGTGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGTGGACCT GCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGT GAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGT GGTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OSBPL5_chr11_3082107_3170310	3097061	A A	AAGGGGGA others(723): Show AAGGGGGAAGATGGGAAGGGGAGGAGAGGAAGGAGGGGGAAGATGGGAGG AGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGGAA GACGGGAGGAGGAGTGGAAAGAGGGGGAAGATGGGAGAAGGAGAGGAAAG AGGGGGAAGATGGGAGAAGGAGAGGAAAGAGGGGAAAGATGGGAGGAGGA GGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGGAGAGGAAAGAGGGGGA AGGTGGGAGGAGGAGAAGAGGAAAGGGGGAAGACGGGAGGAGGAGAAGAG GAAAGAGGGGGAAGGTGGGAGGAGGAGAGGAGGAAAGAGGGGGAAGACGG GAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGGAGAGGAAA GGGGGGAAGACGGGAGGAGGAGAGGAAAGAGGGGGAAGACGGGAGAAGGA GAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGA TGGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGAAAAGAA GGGGAAGATGGGAGGGGGAGGAGAGGAAAGAGGGGGAAGACGGGAAGAGG AGAGGAAAGAGGGGGAAGATGGGAGGAGAAGAGGAAAGAGGGGGAAGATG GGAGGGGGAGGAGAGGAAAGAGGGGGAAGACGGGAAGAGGAGAGGAAAGA GGGGGAAGACGGGAGGAGGAGGAGAGGAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0002 a0001c0026t0002	a0001c0026t0002g0092 a0001c0026t0002g0092	1	326	0.0031	730	c.162 others(749): Show c.1622-2728_1622-2727insCTTTCCTCTCCTCCTCCTCCCGTCTT CCCCCTCTTTCCTCTCCTCTTCCCGTCTTCCCCCTCTTTCCTCTCCTCCC CCTCCCATCTTCCCCCTCTTTCCTCTTCTCCTCCCATCTTCCCCCTCTTT CCTCTCCTCTTCCCGTCTTCCCCCTCTTTCCTCTCCTCCCCCTCCCATCT TCCCCTTCTTTTCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCC TCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTT TCCTCTCCTTCTCCCGTCTTCCCCCTCTTTCCTCTCCTCCTCCCGTCTTC CCCCCTTTCCTCTCCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCC TCCTCCCGTCTTCCCCCTCTTTCCTCCTCTCCTCCTCCCACCTTCCCCCT CTTTCCTCTTCTCCTCCTCCCGTCTTCCCCCTTTCCTCTTCTCCTCCTCC CACCTTCCCCCTCTTTCCTCTCCTCCTCCTCCCATCTTCCCCCTCTTTCC TCTCCTCCTCCTCCCATCTTTCCCCTCTTTCCTCTCCTTCTCCCATCTTC CCCCTCTTTCCTCTCCTTCTCCCATCTTCCCCCTCTTTCCACTCCTCCTC CCGTCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTCCCCCCTTTCCTCTT CTCCTCCTCCCATCTTCCCCCTCCTTCCTCTCCTCCCCTTCCCATCTTCC CCCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	14/21			chr11	TogoVar
PLCL2_chr3_16879955_17095604	16980138	G G	GGGGGGCT others(723): Show GGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCA CTTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC ATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTTCCCAGTAG GGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGCAGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGG GTGGGGGGCTGACCCCCCCACCTCCCTCCAAGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGC GGGAGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGACTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCAC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	250	0.0040	730	c.328 others(749): Show c.328-29531_328-29530insCTGACCCCCCCACCTCCCTCCCAGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCACCACTTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGTGGCTCCTCACTTCCCAGCAGGGGCGGCC GGGCAGAGGCGCCCCTCACTTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCATCCCAGACGGGGCGGCTGGCCGGGTGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGG CTCCTCACTTCCCAGTAGGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCC GGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCAAG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGA CGGGGCGGCTGGCCGGGCGGGAGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCG GGGG	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(723): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	276	0.0036	730	c.132 others(747): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
SHC2_chr19_411589_466033	432986	T T	TAGATGGC others(723): Show TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGC GGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATA GAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGATAGAGGAGGCGGGGCAGATACATGGCGCTTCATCGTGAGTGAGA TCGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGT GAGATCGTGAGTGAGAGATAGAGGAGGCGGGGCAGATAGATGGCGCTTCA TCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATG GCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCA GATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAG GCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGA TAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGAGATAGA GGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGA GAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCATGAGTGAGATC GTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGA GTGAGATCGTGAGTGAGAGAGGAGGCCGGGC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	212	0.0047	730	c.111 others(749): Show c.1110+1722_1110+1723insGCCCGGCCTCCTCTCTCACTCACGAT CTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCTCA CTCACGATCTCACTCATGATGAAGCGCCATCTATCTGCCCGGCCTCCTCT ATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGG CCTCCTCTATCTCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTC CTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGC CCCGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCAT CTATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGA AGCGCCATCTATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACT CACGATGAAGCGCCATCTATCTGCCCCGCCTCCTCTATCTCTCACTCACG ATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTAACTCT CACGATCTCACTCACGATGAAGCGCCATGTATCTGCCCCGCCTCCTCTAT CTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCC TCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCT GCCCCGCCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCC ATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SLC12A7_chr5_1045384_1117063	1098446	C C	CTCTGCTC others(723): Show CTCTGCTCACCAAGCCCCCTTCTAACCCTCTGCACACCCAGCCCCCCTCT AACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGGCCCC CTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGG CCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACAC CCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGC ATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCTCTAACCCT CTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAA CCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCT CTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCC CCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCA GGCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACA CCCAGCCCCCTTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTG CACACCCAGCCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCC TCTGCACACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGCCCCCCTCTA ACCCTCTGCTCACCCAGCCCCCCTCTAACCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0004 a0002c0026t0004	a0002c0026t0004g0086 a0002c0026t0004g0086	1	118	0.0085	730	c.125 others(747): Show c.125-4199_125-4198insAGGTTAGAGGGGGGCTGGGTGAGCAGAG GGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGTGC AGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGT GTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAAGGGGGCT GGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGG GCCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGA GGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGT TAGAGGGGGCCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGA GGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTG CAGAGGGTTAGAGGGGGCCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGG CATGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGC TGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGG GGGCCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTA GAGGGGGCCTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGG GTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAAGGGGGCTTGGTGAGCA GA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SYNDIG1_chr20_24464629_24671616	24530039	A A	AATACCCC others(723): Show AATACCCCTGGTGATGGTTTCAGTGGTGGAGATGATGACAGTGATGGTGG TGGTGATGGTAGTACTCCCGGTGGTGGTGTCAGTGGTGGGGATGGTGATG GTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGT GTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGATGGTAGTATTCC CAGTGATGGTGTCATGGTGGAGATGGTGATGGTGGTGGTGATGGTAGTAC TCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTA GTACTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGAC GGTAGTACTCCTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGG TGATGGTAGTATTCCCAGTGATGGTGTCAGTGGTGGGGATGGTGATGGTG GTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTATTCCCAGTGAT AGTGTCAGTGGTGGGGATGGTGATGGTGGTGGCGATGGTGGTATTCCTGG TGATGGTGTCAGTGGTGGGGAGAGTGGTGGTGATGATGGTAGTACCCCTG GTGGTGGTGATTATGAAAATGGCTATGTCAGTGATGCTGATTGTGATGGT GACTGAAGTTCTGGAGGTGATGGGGTAATGAAGGTAGTGATGGCTATGGT GGTGATGGTGGAGATAATGGAGATGGTGGTC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	270	0.0037	730	c.-78 others(749): Show c.-78-12979_-78-12978insACCCCTGGTGATGGTTTCAGTGGTGG AGATGATGACAGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGGTGGTG TCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGG TGATGGTGATGGTAGTATTCCCAGTGATGGTGTCATGGTGGAGATGGTGA TGGTGGTGGTGATGGTAGTACTCCCGGTGATGGTGTCAGTGGTGGGGATG GTGATGGTGGTGGTGATGGTAGTACTCCCGGTGATGGTGTCAGTGGTGGG GATGGTGATGGTGGTGGTGACGGTAGTACTCCTGGTGATGGTGTCAGTGG TGGGGATGGTGATGGTGGTGGTGATGGTAGTATTCCCAGTGATGGTGTCA GTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGATGGT GATGGTGGTATTCCCAGTGATAGTGTCAGTGGTGGGGATGGTGATGGTGG TGGCGATGGTGGTATTCCTGGTGATGGTGTCAGTGGTGGGGAGAGTGGTG GTGATGATGGTAGTACCCCTGGTGGTGGTGATTATGAAAATGGCTATGTC AGTGATGCTGATTGTGATGGTGACTGAAGTTCTGGAGGTGATGGGGTAAT GAAGGTAGTGATGGCTATGGTGGTGATGGTGGAGATAATGGAGATGGTGG TCAT	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
TAFA5_chr22_48484553_48756932	48735945	T T	TAGAGTCC others(723): Show TAGAGTCCATCCCCCCAGGAGGAATGAGAATCGCACTCCTAGAGTCCATC CCCCCAGGAGGAATGAGAATCACACTCCTAGAGTCCAGAGTCCATCCCCC CAGGAGGAATGAGAATCGCACTCCTAGAGTCCATCCCCCGCAGGAGGAAT GAGAATCACACTCCTAGAGTCCAGAGTCCATCCCCCCAGGAGGAATGAGA ATCGCACTCCTAGAGTCCATCCCCCGCAGGAGGAATGAGAATCACACTCC TAGAGTCCAGAGTCCATCCCCCCAGGAGGAATGAGAATCGCACTCCCAGA GTCCAGAGCCCATCCCCCCAGGAGGAATGAGAATCGCACTCCTAGAGTCC ATCCCCCCAGGAGGAATGAGAATCGCACTCCTAGAGTCCATCCCCCCAGG AGGAATGAGAATCACACTCCTAGAGTCCAGAGTCCATCCCCCCAGGAGGA ATGAGAATCGCACTCCCAGAGTCCAGAGCCCATCCCCCCAGGAGGAATGA GAATCACACTCCTAGAGTCCATCCCCCCCAGGAGGAATGAGAATCACGCT CCCAGAGTCCAGAGTCCATCCCCCCAGGAGGAATGAGAATCGCACTCCCA GAGTCTAGAGCCCATCCCCCCAGGAGGAATGAGAATCACACTCCTAGAGT CCATCCCCCCCAGGAGGAATGAGAATCACGCTCCCAGAGTCCAGAGTCCA TCCCCCCAGGAGGAATGAGAATCGCACTCCC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03225.hp2 NA18522.hp1 others(1): Show HG02897.hp2 HG03225.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0017 a0001c0001t0002 a0001c0001t0007 a0001c0001t0017	a0001c0001t0002g0035 a0001c0001t0002g0195 a0001c0001t0007g0148 others(1): Show a0001c0001t0002g0035 a0001c0001t0002g0195 a0001c0001t0007g0148 a0001c0001t0017g0029	4	258	0.0155	730	c.391 others(749): Show c.391-13886_391-13885insTCCCCCCAGGAGGAATGAGAATCGCA CTCCTAGAGTCCATCCCCCCAGGAGGAATGAGAATCACACTCCTAGAGTC CAGAGTCCATCCCCCCAGGAGGAATGAGAATCGCACTCCTAGAGTCCATC CCCCGCAGGAGGAATGAGAATCACACTCCTAGAGTCCAGAGTCCATCCCC CCAGGAGGAATGAGAATCGCACTCCTAGAGTCCATCCCCCGCAGGAGGAA TGAGAATCACACTCCTAGAGTCCAGAGTCCATCCCCCCAGGAGGAATGAG AATCGCACTCCCAGAGTCCAGAGCCCATCCCCCCAGGAGGAATGAGAATC GCACTCCTAGAGTCCATCCCCCCAGGAGGAATGAGAATCGCACTCCTAGA GTCCATCCCCCCAGGAGGAATGAGAATCACACTCCTAGAGTCCAGAGTCC ATCCCCCCAGGAGGAATGAGAATCGCACTCCCAGAGTCCAGAGCCCATCC CCCCAGGAGGAATGAGAATCACACTCCTAGAGTCCATCCCCCCCAGGAGG AATGAGAATCACGCTCCCAGAGTCCAGAGTCCATCCCCCCAGGAGGAATG AGAATCGCACTCCCAGAGTCTAGAGCCCATCCCCCCAGGAGGAATGAGAA TCACACTCCTAGAGTCCATCCCCCCCAGGAGGAATGAGAATCACGCTCCC AGAGTCCAGAGTCCATCCCCCCAGGAGGAATGAGAATCGCACTCCCAGAG TCCA	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(723): Show CTATTATATATATAATATACCTATTATATATAATATACCTATTATATATA AAATATACCTATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATATAATATACCTATTATATGCATTATATAT AATATACCTATTATATGCATTATATAATATATTATATATAATATGCATAT TATATGTATTATATATTATATATTATATATATAATATACATATTATATGT ATTATATATTATATATTATATATAATATACATATTATATGTATTATATAT TATATATAATATACATATATATTATATATTATATACATATTATATATTAT ATACATATTATATATTATATACATATTATATATTATATACATATTATATA TTATATATTATATACATATTATACATTATATATATCTAAAATATATAATA CACATTATATATTATATAATACACATTATATATTATATATAATACACATT ATATATTATATATAATACACATTATATATTATATATAATACACATTATAT ATTATATAATACACATTATATATTATATATAATACACATTATATATTATA TATAATACACATTATATATTATATATAATATACATTATATATTATATAAT ACACATTATATATTATATATAATACACATTATATATATAATACACATTAT ATATTATATATAATACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 NA18978.hp1 HG02056.hp1 NA18978.hp1	a0001 a0013 a0001 a0013	a0001c0002 a0013c0020 a0001c0002 a0013c0020	a0001c0002t0002 a0013c0020t0002 a0001c0002t0002 a0013c0020t0002	a0001c0002t0002g0267 a0013c0020t0002g0064 a0001c0002t0002g0267 a0013c0020t0002g0064	2	360	0.0056	730	c.62 others(741): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTATATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATAATATATAATGTGTATTATATAATATATAATGTGTAT TATATATTTTAGATATATATAATGTATAATATGTATATAATATATAATAT ATAATATGTATATAATATATAATATGTATATAATATATAATATGTATATA ATATATAATATGTATATAATATATAATATATATGTATATTATATATAATA TATAATACATATAATATGTATATTATATATAATATATAATATATAATACA TATAATATGTATATTATATATATAATATATAATATATAATACATATAATA TGCATATTATATATAATATATTATATAATGCATATAATAGGTATATTATA TATAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATAT TATATATAATGCATATAATAGGTATATTATATATAATAGGTATATTTTAT ATATAATAGGTATATTATATATAATAGGTATATTATATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TMEM120B_chr12_121707752_121787068	121747289	G G	GCTGGGGT others(723): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAA AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAG GCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG CGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03041.hp1 HG02723.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0005g0059 a0001c0001t0005g0060	2	314	0.0064	730	c.189 others(747): Show c.189-1024_189-1023insTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG TCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGTCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747959	A A	ACTGGGGT others(723): Show ACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC ACTGGGATAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0200 a0002c0002t0007g0200	1	314	0.0032	730	c.189 others(745): Show c.189-354_189-353insCGGGAGTCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCACTGGGATAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS9_chr19_2355265_2431261	2418721	T T	TCCTTCCC others(723): Show TCCTTCCCTCCCTCCCTTTCCTTCCCTGCCTTCCCTTCCTCCCTTTCCTT CCCTTCCTTCCCTCCCTCCCTCCCCTTCCCTCCCTACCTTTCCTTCCCTT CTCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCATTCCCTCCCTC CCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTT TCCTTCCCTCCATCCCTTTCCTTCCCTTCCCTTCCCTCCCTCCCTTTCCT TTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTTCCTTCCCTCCCTCTTTC CTTCCCTGCCTTCCCTCCCTACCTCCCCTGCCTTCCCTCCCTACCTCCCC TTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCT CTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCC TTTCCTTCCCTCCCTACGTCTCCTTTCCTTCCCTCCCTCCCTCTCCTTCC CTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTC CCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTT CCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCCCCT TCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCTCTCCTTCCCT TCCCTCCCTCCCTCCCTTTCCTTCCCCCATC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0060 a0004c0006t0001g0060	1	114	0.0088	730	c.215 others(747): Show c.2154+587_2154+588insCCCTCCCTCCCTTTCCTTCCCTGCCTTC CCTTCCTCCCTTTCCTTCCCTTCCTTCCCTCCCTCCCTCCCCTTCCCTCC CTACCTTTCCTTCCCTTCTCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCC CTTTCATTCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTCC CCTTCCCTCCCTCCCTTTCCTTCCCTCCATCCCTTTCCTTCCCTTCCCTT CCCTCCCTCCCTTTCCTTTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTT CCTTCCCTCCCTCTTTCCTTCCCTGCCTTCCCTCCCTACCTCCCCTGCCT TCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTC CCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCT TCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACGTCTCCTTTCCTTCCC TCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCC CACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCC CCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTC CCCACCCTCCCTCCCCTTCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTC CCTCTCTCTCCTTCCCTTCCCTCCCTCCCTCCCTTTCCTTCCCCCATCCC TT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(723): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTC TCTTCCTCCTTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTT CCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCCCCTTCCTTCT TCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCTTCCTCCCTCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCT CCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTT CCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCT CTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0112	1	334	0.0030	730	c.657 others(745): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCCCTTCCCCCTTCC CCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTT CCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCTT CCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTC TCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTT CCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTC CTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(723): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTC CCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCC CCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCC TCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCC TCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCC TCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCCCCTT ACTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCCCCTTCCTCCCTCCTCC TTTCCTTTCTCCCTCCTCCCTTCCTCCCTCCTCCCCTTCCCCCTCCTCCT TTCCTTTCTCCCTCCTCCCTTCCGCCCTCCTCCCCTTCCCCCTCCTCCTT TCCTTTCTCCCTCCTCCCTTCCGCCCTCCTCCCCTTCCCCCTCCTCCTTT CCTTTCTCCCTCCTCCCTTCCACCCTCCTCCCCTTCCCCCCTTCCCCCTT ACTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCT CTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0096 a0007c0007t0001g0096	1	334	0.0030	730	c.657 others(745): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCT CCCTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCC CCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCC CCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTC CCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCT TCCCCCTTCCCCCTTACTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCCC CTTCCTCCCTCCTCCTTTCCTTTCTCCCTCCTCCCTTCCTCCCTCCTCCC CTTCCCCCTCCTCCTTTCCTTTCTCCCTCCTCCCTTCCGCCCTCCTCCCC TTCCCCCTCCTCCTTTCCTTTCTCCCTCCTCCCTTCCGCCCTCCTCCCCT TCCCCCTCCTCCTTTCCTTTCTCCCTCCTCCCTTCCACCCTCCTCCCCTT CCCCCCTTCCCCCTTACTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTC CTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBE2J2_chr1_1248912_1278854	1248971	G G	GCGAGGGA others(723): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACAACGGGCAGCCCTGGGAGGCTGGAC CGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAG CCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAG GCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTC CCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCG AGGGAGGCTGGGCCTCCCACTTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACAACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTC CCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCG AGGGAGGCTGGGCCTCCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	324	0.0031	730	c.62 others(741): Show c.6231_*6232insGTCTAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGGAGGCCCAGCCTCCCTCGG TCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAG GCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAAGTGGGAGGCCCAGCCTCCCTCGG TCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAG GCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTG TAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTG CCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTC CAGCCTCCCAGGGCTGCCCGTTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGCTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCG	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4940		chr1	TogoVar
ZNF365_chr10_62369369_62407450	62370953	G G	GTGATATA others(723): Show GTGATATATATCATATGTGATATATATCATATATATCACATATGTGATAT ATATCATATGTGATATATATCATATATATATCACATATGTGATATATATC ATATGTGATATATATCATATATATATCACATATGTGATATATCATATGTG ATGTATATCATATATATATCACATATGATATATATCATATGTGATATATA TCATATATATCACATATGATATATATCATATGTGATATATATCATATATA TCACATATGATATATATCATATGTGATCATATGTGATATATATCATATAT ATCACATATGATATATATCATATGTGATATATATCATATATATCACATAT GATATATATCATATGTGATATATATATATCATATATATCACATATGATAT ATATCATATGTGATATATATAGCATATATATCATATGTGATATATATCGC ATATATATCACATATGATATATATCATATATATCATATGTGATATATAGC ATATATATCATATGTGATATATAGCATATATATCATATGTGATATATAGC ATATATATCATATATCATATATATCATATATATCATATATCATATATATC ATATATATCATATATCATATATCATATATATCATATATATCATATATGTC ATATGTGATATATATGATATATATGATATATATCATATATATGATATATA TGATATATATCATATATATGTGATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0116 a0001c0001t0005g0116	1	350	0.0029	730	c.-35 others(741): Show c.-3519_-3518insTGATATATATCATATGTGATATATATCATATATA TCACATATGTGATATATATCATATGTGATATATATCATATATATATCACA TATGTGATATATATCATATGTGATATATATCATATATATATCACATATGT GATATATCATATGTGATGTATATCATATATATATCACATATGATATATAT CATATGTGATATATATCATATATATCACATATGATATATATCATATGTGA TATATATCATATATATCACATATGATATATATCATATGTGATCATATGTG ATATATATCATATATATCACATATGATATATATCATATGTGATATATATC ATATATATCACATATGATATATATCATATGTGATATATATATATCATATA TATCACATATGATATATATCATATGTGATATATATAGCATATATATCATA TGTGATATATATCGCATATATATCACATATGATATATATCATATATATCA TATGTGATATATAGCATATATATCATATGTGATATATAGCATATATATCA TATGTGATATATAGCATATATATCATATATCATATATATCATATATATCA TATATCATATATATCATATATATCATATATCATATATCATATATATCATA TATATCATATATGTCATATGTGATATATATGATATATATGATATATATCA TATATATGATATATATGATATATATCATATATATGTGATATATATC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3415		chr10	TogoVar
ADAMTS16_chr5_5135330_5325304	5305337	A A	ACACACAC others(724): Show ACACACACACATCCCACACCACACACACACTTCCCACACCACACACACAC ACACTTCCCACACCACACACACACAAATCCCACACCAGACACACACACAT CCCACACCACACACACACACCACACACACCACACCACAGACACACACATC CCACACCACACACCCCCCACACACACACATCCCACACCACACACAGACAT CCCACACCACACACACATCCCACACCACACACACACACATCCCGCACCAC ACACTCACACATCCCACACCACACATACACATCCCACACCACACACACAT ACCACACCACACACACACACATCCCACACCACACACACACACATCCCACA CCACACACATCCACACCACACACACACACATCCCACACCAGACACACACA TCCCACACACACACACATCCCACATCACACACACAATCACAAACACACAT CCCACACCACACACACATCCCACACCACACACACACATCCCACACACACA CACACCCACCACACACACACACACACCCCACACCACACACACAATCCCAC ACCACACACACACACAATCCCACACCACACACACACATCCCATACCACAC ACACATCCCACGCCACACACACACACACCCCCCACACCACACACACATCC CACACCACACACATCCACACCACACACACACATCCCACACCACACATACA CACACACATCCCATACCACACACATCCCACAC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02109.hp2 HG02572.hp2 others(1): Show HG01952.hp1 HG02109.hp2 HG02572.hp2 HG02717.hp2	a0001 a0025 a0031 a0001 a0025 a0031	a0001c0032 a0025c0066 a0031c0040 a0001c0032 a0025c0066 a0031c0040	a0001c0032t0001 a0001c0032t0038 a0025c0066t0002 others(1): Show a0001c0032t0001 a0001c0032t0038 a0025c0066t0002 a0031c0040t0014	a0001c0032t0001g0065 a0001c0032t0038g0235 a0025c0066t0002g0264 others(1): Show a0001c0032t0001g0065 a0001c0032t0038g0235 a0025c0066t0002g0264 a0031c0040t0014g0191	4	332	0.0121	731	c.318 others(750): Show c.3187-1139_3187-1138insCTTCCCACACCACACACACACACACT TCCCACACCACACACACACAAATCCCACACCAGACACACACACATCCCAC ACCACACACACACACCACACACACCACACCACAGACACACACATCCCACA CCACACACCCCCCACACACACACATCCCACACCACACACAGACATCCCAC ACCACACACACATCCCACACCACACACACACACATCCCGCACCACACACT CACACATCCCACACCACACATACACATCCCACACCACACACACATACCAC ACCACACACACACACATCCCACACCACACACACACACATCCCACACCACA CACATCCACACCACACACACACACATCCCACACCAGACACACACATCCCA CACACACACACATCCCACATCACACACACAATCACAAACACACATCCCAC ACCACACACACATCCCACACCACACACACACATCCCACACACACACACAC CCACCACACACACACACACACCCCACACCACACACACAATCCCACACCAC ACACACACACAATCCCACACCACACACACACATCCCATACCACACACACA TCCCACGCCACACACACACACACCCCCCACACCACACACACATCCCACAC CACACACATCCACACCACACACACACATCCCACACCACACATACACACAC ACATCCCATACCACACACATCCCACACCACACACACATCCCACACCACAC ACACA	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar

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Search Results (Total: 8931 hits)