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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MEX3D_chr19_1549672_1573325	1550007	C C	CCCATCCA others(597): Show CCCATCCACCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCACCAACCCTCCCATCCATCCACCCATCCATCCACCTGTCCA CCCATCCACCCATTCATCCACCCACCCACCCATCCATCCATCCATCCACC CATCCATTCACTCACCTGCCCATCCACCCATCCATTCACTCACCTGCCCA TCCACCCATCCATGCACTCACCTGCCTATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCAATCATCCACCCACCCATCCA TCCATCCATCCAACCATCCACCCACTCATCTATCCATCCATCCATCCATC CATCCATCCATTTACCCACCCTCTCATCCATCCACCCACCCATCCACTTG TCCACCCATCCACCTGTTCACCCATCCACCCATCCATCCATCCATCCAAC CATCCACCCATCTATCCATCCATCCATCCAACCACTCATCCGTCCATCCA TCCATCCATCCATCCATTTACCCACTCTCCCATCCACCCACCCATCGACT TGTCCACCCATACACCTGTTCACCCATCCACCCATCCATCCATCCATCCA TCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	372	0.0027	604	c.55 others(615): Show c.5555_*5556insTTGGATGGATGGATGGATGGATGGGTGGATGGGT GAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGGATGGGAGAGTGG GTAAATGGATGGATGGATGGATGGATGGACGGATGAGTGGTTGGATGGAT GGATGGATAGATGGGTGGATGGTTGGATGGATGGATGGATGGGTGGATGG GTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGTGGATGGATGAGA GGGTGGGTAAATGGATGGATGGATGGATGGATGGATGGATAGATGAGTGG GTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGATGATTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGGCAG GTGAGTGCATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGAT GGGCAGGTGAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGGGTGG GTGGATGAATGGGTGGATGGGTGGACAGGTGGATGGATGGGTGGATGGAT GGGAGGGTTGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGAACAGGTGGATGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4664		chr19	TogoVar
MEX3D_chr19_1549672_1573325	1550007	C C	CCCATCCA others(597): Show CCCATCCACCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCACCAACCCTCCCATCCATCCACCCATCCATCCACCTG TCCACCCATCCACCCATTCATCCACCCACCCACCCATCCATCCATCCATC CACCCATCCATTCACTCACCTGCCCATCCACCCATCCATTCACTCACCTG CCCATCCACCCATCCATGCACTCACCTGCCTATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCAATCATCCACCCACCCATCCA TCCATCCATCCAACCATCCACCCACTCATCTATCCATCCATCCATCCATC CATCCATCCATTTACCCACCCTCTCATCCATCCACCCACCCATCCACTTG TCCACCCATCCACCTGTTCACCCATCCACCCATCCATCCATCCATCCAAC CATCCACCCATCTATCCATCCATCCATCCAACCACTCATCCGTCCATCCA TCCATCCATCCATCCATTTACCCACTCTCCCATCCACCCACCCATCGACT TGTCCACCCATACACCTGTTCACCCATCCACCCATCCATCCATCCATCCA TCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG02258.hp1 NA18943.hp1 others(4): Show HG00140.hp1 HG02258.hp1 NA18943.hp1 NA18947.hp2 NA18990.hp1 NA19009.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0001t0002 a0001c0002t0004	a0001c0001t0002g0006 a0001c0001t0002g0209 a0001c0002t0004g0003 others(4): Show a0001c0001t0002g0006 a0001c0001t0002g0209 a0001c0002t0004g0003 a0001c0002t0004g0013 a0001c0002t0004g0024 a0001c0002t0004g0056 a0001c0002t0004g0208	7	372	0.0188	604	c.55 others(615): Show c.5555_*5556insTTGGATGGATGGATGGATGGATGGGTGGATGGGT GAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGGATGGGAGAGTGG GTAAATGGATGGATGGATGGATGGATGGACGGATGAGTGGTTGGATGGAT GGATGGATAGATGGGTGGATGGTTGGATGGATGGATGGATGGGTGGATGG GTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGTGGATGGATGAGA GGGTGGGTAAATGGATGGATGGATGGATGGATGGATGGATAGATGAGTGG GTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGATGATTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGGCAGGTGA GTGCATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGGC AGGTGAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGGGTGGGTGG ATGAATGGGTGGATGGGTGGACAGGTGGATGGATGGGTGGATGGATGGGA GGGTTGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGAACAGGTGGATGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4664		chr19	TogoVar
MEX3D_chr19_1549672_1573325	1550007	C C	CCCATCCA others(597): Show CCCATCCACCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCACCAACCCTCCCATCCATCCACCCATCCATCCA CCTGTCCACCCATCCACCCATTCATCCACCCACCCACCCATCCATCCATC CATCCACCCATCCATTCACTCACCTGCCCATCCACCCATCCATTCACTCA CCTGCCCATCCACCCATCCATGCACTCACCTGCCTATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCAATCATCCACCCACCCATCCA TCCATCCATCCAACCATCCACCCACTCATCTATCCATCCATCCATCCATC CATCCATCCATTTACCCACCCTCTCATCCATCCACCCACCCATCCACTTG TCCACCCATCCACCTGTTCACCCATCCACCCATCCATCCATCCATCCAAC CATCCACCCATCTATCCATCCATCCATCCAACCACTCATCCGTCCATCCA TCCATCCATCCATCCATTTACCCACTCTCCCATCCACCCACCCATCGACT TGTCCACCCATACACCTGTTCACCCATCCACCCATCCATCCATCCATCCA TCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18942.hp1 NA18986.hp1 NA18940.hp2 NA18942.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0025 a0001c0001 a0001c0012 a0001c0025	a0001c0001t0004 a0001c0012t0004 a0001c0025t0022 a0001c0001t0004 a0001c0012t0004 a0001c0025t0022	a0001c0001t0004g0118 a0001c0012t0004g0114 a0001c0025t0022g0049 a0001c0001t0004g0118 a0001c0012t0004g0114 a0001c0025t0022g0049	3	372	0.0081	604	c.55 others(615): Show c.5555_*5556insTTGGATGGATGGATGGATGGATGGGTGGATGGGT GAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGGATGGGAGAGTGG GTAAATGGATGGATGGATGGATGGATGGACGGATGAGTGGTTGGATGGAT GGATGGATAGATGGGTGGATGGTTGGATGGATGGATGGATGGGTGGATGG GTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGTGGATGGATGAGA GGGTGGGTAAATGGATGGATGGATGGATGGATGGATGGATAGATGAGTGG GTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGATGATTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGGCAGGTGAGTGC ATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGGCAGGT GAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGGGTGGGTGGATGA ATGGGTGGATGGGTGGACAGGTGGATGGATGGGTGGATGGATGGGAGGGT TGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGAACAGGTGGATGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4664		chr19	TogoVar
MEX3D_chr19_1549672_1573325	1550015	C C	CCTGTTCA others(597): Show CCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACC AACCCTCCCATCCATCCACCCATCCATCCACCTGTCCACCCATCCACCCA TTCATCCACCCACCCACCCATCCATCCATCCATCCACCCATCCATTCACT CACCTGCCCATCCACCCATCCATTCACTCACCTGCCCATCCACCCATCCA TGCACTCACCTGCCTATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAATCATCCACCCACCCATCCATCCATCCATCCAACCATCCA CCCACTCATCTATCCATCCATCCATCCATCCATCCATCCATTTACCCACC CTCTCATCCATCCACCCACCCATCCACTTGTCCACCCATCCACCTGTTCA CCCATCCACCCATCCATCCATCCATCCAACCATCCACCCATCTATCCATC CATCCATCCAACCACTCATCCGTCCATCCATCCATCCATCCATCCATTTA CCCACTCTCCCATCCACCCACCCATCGACTTGTCCACCCATACACCTGTT CACCCATCCACCCATCCATCCATCCATCCATCCAACCATCCACCCATCCA TCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0224 a0001c0001t0012g0224	1	372	0.0027	604	c.55 others(615): Show c.5547_*5548insATGGATGGATGGGTGGATGGTTGGATGGATGGAT GGATGGATGGGTGGATGGGTGAACAGGTGTATGGGTGGACAAGTCGATGG GTGGGTGGATGGGAGAGTGGGTAAATGGATGGATGGATGGATGGATGGAC GGATGAGTGGTTGGATGGATGGATGGATAGATGGGTGGATGGTTGGATGG ATGGATGGATGGGTGGATGGGTGAACAGGTGGATGGGTGGACAAGTGGAT GGGTGGGTGGATGGATGAGAGGGTGGGTAAATGGATGGATGGATGGATGG ATGGATGGATAGATGAGTGGGTGGATGGTTGGATGGATGGATGGATGGGT GGGTGGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGGCAGGTGAGTGCATGGATGGGTGGATGGGCAGGTGAGTGAAT GGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGATGGATGG ATGGGTGGGTGGGTGGATGAATGGGTGGATGGGTGGACAGGTGGATGGAT GGGTGGATGGATGGGAGGGTTGGTGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGAACAG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4656		chr19	TogoVar
MEX3D_chr19_1549672_1573325	1550015	C C	CCTGTTCA others(597): Show CCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CACCAACCCTCCCATCCATCCACCCATCCATCCACCTGTCCACCCATCCA CCCATTCATCCACCCACCCACCCATCCATCCATCCATCCACCCATCCATT CACTCACCTGCCCATCCACCCATCCATTCACTCACCTGCCCATCCACCCA TCCATGCACTCACCTGCCTATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAATCATCCACCCACCCATCCATCCATCCATCCAACCATCCA CCCACTCATCTATCCATCCATCCATCCATCCATCCATCCATTTACCCACC CTCTCATCCATCCACCCACCCATCCACTTGTCCACCCATCCACCTGTTCA CCCATCCACCCATCCATCCATCCATCCAACCATCCACCCATCTATCCATC CATCCATCCAACCACTCATCCGTCCATCCATCCATCCATCCATCCATTTA CCCACTCTCCCATCCACCCACCCATCGACTTGTCCACCCATACACCTGTT CACCCATCCACCCATCCATCCATCCATCCATCCAACCATCCACCCATCCA TCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	372	0.0027	604	c.55 others(615): Show c.5547_*5548insATGGATGGATGGGTGGATGGTTGGATGGATGGAT GGATGGATGGGTGGATGGGTGAACAGGTGTATGGGTGGACAAGTCGATGG GTGGGTGGATGGGAGAGTGGGTAAATGGATGGATGGATGGATGGATGGAC GGATGAGTGGTTGGATGGATGGATGGATAGATGGGTGGATGGTTGGATGG ATGGATGGATGGGTGGATGGGTGAACAGGTGGATGGGTGGACAAGTGGAT GGGTGGGTGGATGGATGAGAGGGTGGGTAAATGGATGGATGGATGGATGG ATGGATGGATAGATGAGTGGGTGGATGGTTGGATGGATGGATGGATGGGT GGGTGGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATAGGCAGGTGAGTGCATGGATGGGTGGATGGGCAGGTGAGTGAATGGAT GGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGATGGATGGATGG GTGGGTGGGTGGATGAATGGGTGGATGGGTGGACAGGTGGATGGATGGGT GGATGGATGGGAGGGTTGGTGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGAACAG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4656		chr19	TogoVar
MEX3D_chr19_1549672_1573325	1550015	C C	CCTGTTCA others(597): Show CCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CACCAACCCTCCCATCCATCCACCCATCCATCCACCTGTCCACCCATCCA CCCATTCATCCACCCACCCACCCATCCATCCATCCATCCACCCATCCATT CACTCACCTGCCCATCCACCCATCCATTCACTCACCTGCCCATCCACCCA TCCATGCACTCACCTGCCTATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAATCATCCACCCACCCATCCATCCATCCATCCAACCA TCCACCCACTCATCTATCCATCCATCCATCCATCCATCCATCCATTTACC CACCCTCTCATCCATCCACCCACCCATCCACTTGTCCACCCATCCACCTG TTCACCCATCCACCCATCCATCCATCCATCCAACCATCCACCCATCTATC CATCCATCCATCCAACCACTCATCCGTCCATCCATCCATCCATCCATCCA TTTACCCACTCTCCCATCCACCCACCCATCGACTTGTCCACCCATACACC TGTTCACCCATCCACCCATCCATCCATCCATCCATCCAACCATCCACCCA TCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01069.hp2 HG01071.hp1 others(22): Show HG00408.hp2 HG01069.hp2 HG01071.hp1 HG01123.hp1 HG01175.hp2 HG01255.hp2 HG01346.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02148.hp2 HG02602.hp1 HG02735.hp2 HG04204.hp1 HG04204.hp2 NA18944.hp2 NA18956.hp1 NA19091.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0003t0002 a0002c0005t0013	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0170 others(14): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0006g0067 a0001c0001t0008g0014 a0001c0001t0008g0040 a0001c0001t0008g0205 a0001c0001t0008g0223 a0001c0001t0014g0033 a0001c0001t0014g0218 a0001c0003t0002g0030 a0002c0005t0013g0131	25	372	0.0672	604	c.55 others(615): Show c.5547_*5548insATGGATGGGTGGATGGTTGGATGGATGGATGGAT GGATGGGTGGATGGGTGAACAGGTGTATGGGTGGACAAGTCGATGGGTGG GTGGATGGGAGAGTGGGTAAATGGATGGATGGATGGATGGATGGACGGAT GAGTGGTTGGATGGATGGATGGATAGATGGGTGGATGGTTGGATGGATGG ATGGATGGGTGGATGGGTGAACAGGTGGATGGGTGGACAAGTGGATGGGT GGGTGGATGGATGAGAGGGTGGGTAAATGGATGGATGGATGGATGGATGG ATGGATAGATGAGTGGGTGGATGGTTGGATGGATGGATGGATGGGTGGGT GGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATAGGCAGGTGAGTGCATGGATGGGTGGATGGGCAGGTGAGTGAATGGAT GGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGATGGATGGATGG GTGGGTGGGTGGATGAATGGGTGGATGGGTGGACAGGTGGATGGATGGGT GGATGGATGGGAGGGTTGGTGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGAACAG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4656		chr19	TogoVar
MEX3D_chr19_1549672_1573325	1550015	C C	CCTGTTCA others(597): Show CCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CACCAACCCTCCCATCCATCCACCCATCCATCCACCTGTCCACCCATCCA CCCATTCATCCACCCACCCACCCATCCATCCATCCATCCACCCATCCATT CACTCACCTGCCCATCCACCCATCCATTCACTCACCTGCCCATCCACCCA TCCATGCACTCACCTGCCTATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAATCATCCACCCACCCATCCATCCATCCATCCA ACCATCCACCCACTCATCTATCCATCCATCCATCCATCCATCCATCCATT TACCCACCCTCTCATCCATCCACCCACCCATCCACTTGTCCACCCATCCA CCTGTTCACCCATCCACCCATCCATCCATCCATCCAACCATCCACCCATC TATCCATCCATCCATCCAACCACTCATCCGTCCATCCATCCATCCATCCA TCCATTTACCCACTCTCCCATCCACCCACCCATCGACTTGTCCACCCATA CACCTGTTCACCCATCCACCCATCCATCCATCCATCCATCCAACCATCCA CCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0003 a0001c0002t0004g0003	1	372	0.0027	604	c.55 others(615): Show c.5547_*5548insATGGGTGGATGGTTGGATGGATGGATGGATGGAT GGGTGGATGGGTGAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGG ATGGGAGAGTGGGTAAATGGATGGATGGATGGATGGATGGACGGATGAGT GGTTGGATGGATGGATGGATAGATGGGTGGATGGTTGGATGGATGGATGG ATGGGTGGATGGGTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGT GGATGGATGAGAGGGTGGGTAAATGGATGGATGGATGGATGGATGGATGG ATAGATGAGTGGGTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGAT GATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATAGGCAGGTGAGTGCATGGATGGGTGGATGGGCAGGTGAGTGAATGGAT GGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGATGGATGGATGG GTGGGTGGGTGGATGAATGGGTGGATGGGTGGACAGGTGGATGGATGGGT GGATGGATGGGAGGGTTGGTGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGAACAG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4656		chr19	TogoVar
MEX3D_chr19_1549672_1573325	1550015	C C	CCTGTTCA others(597): Show CCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCACCAACCCTCCCATCCATCCACCCATCCATCCACCTGTCCACCCA TCCACCCATTCATCCACCCACCCACCCATCCATCCATCCATCCACCCATC CATTCACTCACCTGCCCATCCACCCATCCATTCACTCACCTGCCCATCCA CCCATCCATGCACTCACCTGCCTATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAATCATCCACCCACCCATCCATCCATCCATCCA ACCATCCACCCACTCATCTATCCATCCATCCATCCATCCATCCATCCATT TACCCACCCTCTCATCCATCCACCCACCCATCCACTTGTCCACCCATCCA CCTGTTCACCCATCCACCCATCCATCCATCCATCCAACCATCCACCCATC TATCCATCCATCCATCCAACCACTCATCCGTCCATCCATCCATCCATCCA TCCATTTACCCACTCTCCCATCCACCCACCCATCGACTTGTCCACCCATA CACCTGTTCACCCATCCACCCATCCATCCATCCATCCATCCAACCATCCA CCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0029 a0001c0002t0004g0029	1	372	0.0027	604	c.55 others(615): Show c.5547_*5548insATGGGTGGATGGTTGGATGGATGGATGGATGGAT GGGTGGATGGGTGAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGG ATGGGAGAGTGGGTAAATGGATGGATGGATGGATGGATGGACGGATGAGT GGTTGGATGGATGGATGGATAGATGGGTGGATGGTTGGATGGATGGATGG ATGGGTGGATGGGTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGT GGATGGATGAGAGGGTGGGTAAATGGATGGATGGATGGATGGATGGATGG ATAGATGAGTGGGTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGAT GATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG GCAGGTGAGTGCATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGT GGATGGGCAGGTGAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGG GTGGGTGGATGAATGGGTGGATGGGTGGACAGGTGGATGGATGGGTGGAT GGATGGGAGGGTTGGTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGAACAG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4656		chr19	TogoVar
MEX3D_chr19_1549672_1573325	1550069	C C	AACCCTCC others(597): Show AACCCTCCCATCCATCCACCCATCCATCCACCTGTCCACCCATCCACCCA TTCATCCACCCACCCACCCATCCATCCATCCATCCACCCATCCATTCACT CACCTGCCCATCCACCCATCCATTCACTCACCTGCCCATCCACCCATCCA TGCACTCACCTGCCCATCCACCCATCCATGCACTCACCTGCCTATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCAATCATCCACCCA CCCATCCATCCATCCATCCAACCATCCACCCACTCATCTATCCATCCATC CATCCATCCATCCATCCATTTACCCACCCTCTCATCCATCCACCCACCCA TCCACTTGTCCACCCATCCACCTGTTCACCCATCCACCCATCCATCCATC CATCCAACCATCCACCCATCTATCCATCCATCCATCCAACCACTCATCCG TCCATCCATCCATCCATCCATCCATTTACCCACTCTCCCATCCACCCACC CATCGACTTGTCCACCCATACACCTGTTCACCCATCCACCCATCCATCCA TCCATCCATCCACCCATCCATCCATCCAACCATCCATCCATCCATCCATC CACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 NA21309.hp2 HG01106.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0032 a0001c0001t0001 a0001c0008t0032	a0001c0001t0001g0001 a0001c0008t0032g0238 a0001c0001t0001g0001 a0001c0008t0032g0238	2	372	0.0054	604	c.54 others(615): Show c.5494_*5495insGGTGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGGTGGATGGATGGATGGATGGATGGGTGGATGGGTGAACAGGTG TATGGGTGGACAAGTCGATGGGTGGGTGGATGGGAGAGTGGGTAAATGGA TGGATGGATGGATGGATGGACGGATGAGTGGTTGGATGGATGGATGGATA GATGGGTGGATGGTTGGATGGATGGATGGATGGGTGGATGGGTGAACAGG TGGATGGGTGGACAAGTGGATGGGTGGGTGGATGGATGAGAGGGTGGGTA AATGGATGGATGGATGGATGGATGGATGGATAGATGAGTGGGTGGATGGT TGGATGGATGGATGGATGGGTGGGTGGATGATTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATAGGCAGGTGAGTGCATGGATGGG TGGATGGGCAGGTGAGTGCATGGATGGGTGGATGGGCAGGTGAGTGAATG GATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGATGGATGGA TGGGTGGGTGGGTGGATGAATGGGTGGATGGGTGGACAGGTGGATGGATG GGTGGATGGATGGGAGGGTT	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4603		chr19	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(597): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCA GGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAG GGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGG GGGGAAGGGGGAAAGGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGGGGGAGGTGGAGG GGAGGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGG GGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGGAGGGAAGGGA GGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGA GGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAG GGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAG GGTGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0188 a0001c0001t0003g0188	1	272	0.0037	604	c.250 others(619): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTCTCCC TCCCTTCCCTCCCCCTCCCCCTCCCCCTCTTCCCTCCCCCTCCCCTCCCC CTCCCCCCCTCCCCCTCCCCCCTCCCCTCCACCTCCCCCCTACCCTCCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCATCCTC CCCTCACCCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTC CCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCT TCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCC TTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCC CCTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(597): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCA GGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAG GGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGG GGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGGGAGGGGAGGGGGGAGGGGGGAGGGTAGGGGGGAGGTGGAGG GGAGGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGG GGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGGAGGGAAGGGA GGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGA GGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAG GGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAG GGTGG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	272	0.0037	604	c.250 others(619): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTCTCCC TCCCTTCCCTCCCCCTCCCCCTCCCCCTCTTCCCTCCCCCTCCCCTCCCC CTCCCCCCCTCCCCCTCCCCCCTCCCCTCCACCTCCCCCCTACCCTCCCC CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCATCCT CCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTC CCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCT TCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCC TTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCC CCTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(597): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCA GGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAA GGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAG GGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGGGGGAGGTGGAGG GGAGGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGG GGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGGAGGGAAGGGA GGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGA GGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAG GGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAG GGTGG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0170	1	272	0.0037	604	c.250 others(619): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTCTCCC TCCCTTCCCTCCCCCTCCCCCTCCCCCTCTTCCCTCCCCCTCCCCTCCCC CTCCCCCCCTCCCCCTCCCCCCTCCCCTCCACCTCCCCCCTACCCTCCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCATCCTC CCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCC CCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTT CCCCGCCCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCC TTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCC CCTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(597): Show AAGGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGA AGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGC AGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAA GGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAG GGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGGGGGAGGTGGAGG GGAGGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGG GGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGGAGGGAAGGGA GGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGA GGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAG GGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAG GGTGG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0190 a0001c0001t0003g0190	1	272	0.0037	604	c.250 others(619): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTCTCCC TCCCTTCCCTCCCCCTCCCCCTCCCCCTCTTCCCTCCCCCTCCCCTCCCC CTCCCCCCCTCCCCCTCCCCCCTCCCCTCCACCTCCCCCCTACCCTCCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCATCCTC CCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCC CCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTT CCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCT TTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCC CTCCTTCCCCCTCCTTCCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MRTFA_chr22_40405289_40641719	40537524	C C	CCCGTCCG others(597): Show CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCGGGCCAGCCGCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGG TCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCA GCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAG CCGTG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18951.hp1 NA18943.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0170 a0001c0003t0001g0198 a0001c0001t0001g0170 a0001c0003t0001g0198	2	256	0.0078	604	c.241 others(623): Show c.241+14581_241+14582insCACGGCTGGCCAGGCGGGGGACTGAC CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCCGGCGGAGG GCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGG	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(597): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGGC CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCAGGATGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGC CCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGTG CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCA CGTCC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0138 a0001c0006t0001g0138	1	256	0.0039	604	c.241 others(623): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTTA others(597): Show ATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAA ATCTTATTTTATATATATTTATATATATTTTTATATATATAAAATCTTAT TTTATATATTATATATATATAAAATCTTATTTTATATATTTTATATATAT AAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATA TATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATT TTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTT ATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTAT ATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTT TATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATAT ATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATA TATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAA AATCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	330	0.0030	604	c.-5+ others(619): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTT TATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATAT ATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATA TATATAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAA AATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATA TAAAATATATATAAAATAAGATTTTATATATATAAAATATATAAAATAAG ATTTTATATATATATAATATATAAAATAAGATTTTATATATATAAAAATA TATATAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAA ATAAGATTTTATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ATATATAT others(597): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATAGTCATATATAT ATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATAT ATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATAT ATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCAT ATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGT TCATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	364	0.0028	604	c.394 others(619): Show c.394-662_394-661insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATGTTCA TATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCA TATATATAGTCATATATATATGTTCATATATATGTTCATATATATATGTT CATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATG TTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATA TGTTCATATATATGTTCATATATATATGTTCATATATATATGTTCATATA TATGTTCATATATATATGTTCATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ATATATAT others(597): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATGTTCATATAT ATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATAT ATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCAT ATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGT TCATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATT	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA20300.hp2 HG02622.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0305 a0001c0001t0001g0094 a0001c0001t0001g0305	2	364	0.0055	604	c.394 others(619): Show c.394-662_394-661insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATGTTCA TATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATATGTT CATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATG TTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATA TGTTCATATATATGTTCATATATATATGTTCATATATATATGTTCATATA TATGTTCATATATATATGTTCATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ATATATAT others(597): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATGTTCATATAT ATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATAT ATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCAT ATATATATGTTCATATATATGTTCATATATATATGTTCATATATATATGT TCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0097 a0001c0001t0001g0099	2	364	0.0055	604	c.394 others(619): Show c.394-662_394-661insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATGTTCA TATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATATGTT CATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATG TTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATA TGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATA TATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MUSK_chr9_110663791_110811558	110690419	T T	TATATATA others(597): Show TATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATA AGTATGTATATAAATATATATATTTCAATATAAGTATGTATAAAAATATA TATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTA TGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATA TTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTA TAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTC AATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAA AATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATA TAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATA TATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAG TATGTATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATA TATAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19030.hp1 HG03041.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0009 a0001c0001t0009g0008 a0001c0001t0003g0009 a0001c0001t0009g0008	2	326	0.0061	604	c.358 others(621): Show c.358+3154_358+3155insTATATTTCAATATAAGTATGTATATAAA TATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATA AGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATA TATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTA TGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATA TTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTA TAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTC AATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAA AATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATA TAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATA TATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAG TATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTCAATATAAGTATATATAAATA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYRIP_chr3_39804609_40265321	40084517	G G	GTAGATAA others(597): Show GTAGATAATACACATCTATGTATTATCTATCGGTAGATAATACACATCTA TGTATTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAG ATAATACACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTA TTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAGATAA TACACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTATTAT CTATCGGTAGATAATACACATCTATGTATTATCTATCGATAGATAATACA CATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTAT CGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACATC TATGTATTATCTATCGATAATACACATCTATGTATTATCTATCGATAGAT AATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATT ATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATA CACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCT ATCGA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0072 a0003c0003t0002g0072	1	170	0.0059	604	c.332 others(623): Show c.332+40271_332+40272insCTATCGGTAGATAATACACATCTATG TATTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAGAT AATACACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTATT ATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAGATAATA CACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTATTATCT ATCGGTAGATAATACACATCTATGTATTATCTATCGATAGATAATACACA TCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCG ATAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCTA TGTATTATCTATCGATAATACACATCTATGTATTATCTATCGATAGATAA TACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTAT CTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACA CATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTAT CGATAGATAATACACATCTATGTATTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084607	C C	CTATCGAT others(597): Show CTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACA CATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTAT CGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACATC TATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGAT AGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATG TATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGAT AATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATT ATATATCGATAGATAATACACATCTATGTATTATATATCGATAATACACA TCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCG ATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTA TGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAG ATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTA TTATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0168 a0002c0005t0004g0168	1	170	0.0059	604	c.332 others(623): Show c.332+40367_332+40368insCTATCGATAGATAATACACATCTATG TATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGAT AATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATT ATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATA CACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCT ATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACA TCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATATATCG ATAGATAATACACATCTATGTATTATATATCGATAATACACATCTATGTA TTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAA TACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTAT CTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACA CATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATAT CGATAGATAATACACATCTATGTATTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(597): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACTGTG TATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATACTGTAT ACATACTGCATGCAGTATGTATACTGTATATATACACTATACAGTATGTA TACTGTATATATACACTATACAGTATGTATACTGTATATATACACACAGT ATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACACA GTATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACA CAGTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA19079.hp2 HG00558.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0271 a0001c0002t0003g0262 a0001c0001t0002g0271 a0001c0002t0003g0262	2	362	0.0055	604	c.-75 others(623): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATAT ATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATG CAGTATGTATACTGTATACATACTGCATACACAGTATACATACTGTGTAT ATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTA TACATACATACAGTATACATACATACAGTATACATACATACAGTATACAT GCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(597): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	356	0.0028	604	c.91+ others(617): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGCTGAGGGA GTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOL4L_chr20_32438059_32590333	32563187	G G	GGGAGGGT others(597): Show GGGAGGGTAGAAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGG CAGGGAGGGTGGAGGGAGGGAGGGTGGGGAGGGAGGATGGAGGACAGGGA GGGTGGGGAGGGAGGGTGGAGGGAGAGTGGGGAGGGCAGGGAGGATGGAG GGAGGGAGAGTGGGGAAGGTGGAGGGGAGGGAGGGAGGAAGGCAGGGGGG GAGGGAGGGAGAGTGGGGAGGGTGGAGGGGAGGGAGGGTGGAGGGAGGGA GAGTGGGGAGGGTGGAGGGCAGGGAGGAGGGAGGAGGGGAGGGAGGGAGA GTGGGGAGGGTGGAGGGCAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGA GGGAGAGTGGGGAGGGTGGAGGGCAGGGAGTGGGGAGGGAGGGACAGTGG GGAGGTTGGAGGGGAGGGTGGAGGGCAGGGAGGGTGGAGAGCAGGGAGGG TGGGGAGGGAGGGTGGAGGGAAGGAGAGTGGGGAGGGAGGGAGAGTGGAG AGGGAGGGTGGAGGGGAAGGAGGGTGGAGGGAGGGAGAGTGGGGAAGGTG GAGGGGAGGGAGGGTGGAGGGCAGGGATGGTGGAGGGAGGGAGAGTGGGG AGGGA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0190 a0001c0004t0012g0190	1	196	0.0051	604	c.321 others(623): Show c.321+21382_321+21383insTCCCTCCCCACTCTCCCTCCCTCCAC CATCCCTGCCCTCCACCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCC CTCCACCCTCCTTCCCCTCCACCCTCCCTCTCCACTCTCCCTCCCTCCCC ACTCTCCTTCCCTCCACCCTCCCTCCCCACCCTCCCTGCTCTCCACCCTC CCTGCCCTCCACCCTCCCCTCCAACCTCCCCACTGTCCCTCCCTCCCCAC TCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCATCCTCCCTGCCCT CCACCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCTCCTCC CTCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCACCCTCCCTC CCCTCCACCCTCCCCACTCTCCCTCCCTCCCCCCCTGCCTTCCTCCCTCC CTCCCCTCCACCTTCCCCACTCTCCCTCCCTCCATCCTCCCTGCCCTCCC CACTCTCCCTCCACCCTCCCTCCCCACCCTCCCTGTCCTCCATCCTCCCT CCCCACCCTCCCTCCCTCCACCCTCCCTGCCTTCCACTCTCCCTCCCTCC CCTCCACCCTCCTTACCTTCTACCCTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOS3_chr7_150986017_151019588	150995593	C C	CCCCCATC others(597): Show CCCCCATCCCACCCCTGCACCCCTCCCATCCCACCTCTAAACCCCTCCTC CCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCCCCTCTAAAC CCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCCC CTCTAAACCCCTCCTCCCTCTCCCCATCCCACCCCTGCACCCTTCCTCCC TCTCCCCATCCCACCCCTGCACCCCTTTCCCCCCTCCCACCCCTGCACCC TTCCTCCCTCTCCCCCATCCCACCCCTGCACCCCTCCCATCCCACCTCTA AACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTC CCCCTCTAAACCCCTCCTCCCTCTCCCCATCCCACCCCTGCACCCTTCCT CCCTCTGCCCCCGTCCCACGCCTGTACTCCTCCTCCCTCTCCCCCGTCAC ACCCCTGCACCCCTCCTCCCTCTCCCCATCCCACCCCTGCACCCCTCCTC CCTCTGCCCATCCCATCCCTGCACCCCTCCTCCCTCTGCCCCCGTCCCAC CCCTAAACCCCTCCTCCCTCTGCCCCACCCCACCCTTGCACCCCTCCTCC CTCTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0065 a0002c0003t0001g0065	1	382	0.0026	604	c.270 others(619): Show c.270+283_270+284insATCCCACCCCTGCACCCCTCCCATCCCACC TCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCC TGTCCCCCTCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCC CACCTCCCTGTCCCCCTCTAAACCCCTCCTCCCTCTCCCCATCCCACCCC TGCACCCTTCCTCCCTCTCCCCATCCCACCCCTGCACCCCTTTCCCCCCT CCCACCCCTGCACCCTTCCTCCCTCTCCCCCATCCCACCCCTGCACCCCT CCCATCCCACCTCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAA CCCCACCTCCCTGTCCCCCTCTAAACCCCTCCTCCCTCTCCCCATCCCAC CCCTGCACCCTTCCTCCCTCTGCCCCCGTCCCACGCCTGTACTCCTCCTC CCTCTCCCCCGTCACACCCCTGCACCCCTCCTCCCTCTCCCCATCCCACC CCTGCACCCCTCCTCCCTCTGCCCATCCCATCCCTGCACCCCTCCTCCCT CTGCCCCCGTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCACCCCACCC TTGCACCCCTCCTCCCTCTTCCCC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(597): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATA GTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGT TTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTT AAACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATATAGT TTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTTTTA AACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATG TAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTTAAAC TATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATAT AGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTT TAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTTAAAACTATATA GTTTATGTAGTTTTAAACTAGTTTATATTTTTTTATATAGTTTAAACTAT ATAGT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0082 a0001c0003t0001g0082	1	244	0.0041	604	c.342 others(623): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAG TTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAA AACTACATAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAA CTACATAAACTATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGT TTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTAAACTATAT AGTTTAAAACTATATAAACTATATAGTTTAAACTATATAAACTATATAGT TTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTATATAGTTT TAAACTATATAAACTATATAGTTTTAAACTATATATAAACTATATAGTTT AAAACTATATATAAACTATATAGTTTAAAACTATATATAAACTATATAGT TTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(597): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATA GTTTTAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGT TTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTT AAACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATATAGT TTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTTTTA AACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATG TAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTTAAAC TATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATAT AGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTT TAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTTAAAACTATATA GTTTATGTAGTTTTAAACTAGTTTATATTTTTTTATATAGTTTAAACTAT ATAGT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02965.hp2 HG01346.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0080 a0001c0002t0003g0242 a0001c0002t0001g0080 a0001c0002t0003g0242	2	244	0.0082	604	c.342 others(623): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAG TTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAA AACTACATAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAA CTACATAAACTATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGT TTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTAAACTATAT AGTTTAAAACTATATAAACTATATAGTTTAAACTATATAAACTATATAGT TTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTATATAGTTT TAAACTATATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTT AAAACTATATATAAACTATATAGTTTAAAACTATATATAAACTATATAGT TTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(597): Show AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGAGGAGGAAGGAGGACGGAGAAGGGGGAGGGAGGAGGATGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGATGGGGGAGGGAGA AGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGATGGGG GAGGGGAGGGGGGAGGGGGATGGGGAGGGGAGGGGGGAGGGAGAGGGGAG GGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGAGAGGGGG AGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGA AGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGG AGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAGGGG AGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAG GGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGG AAGGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0292 a0001c0003t0002g0292	1	344	0.0029	604	c.154 others(621): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCC CCCTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCC TCCCCTCTTCCTCCCCTTCCCCTCCCTTCCCCTCCCCCTTCTCCCTTCCC CCTTTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCCTCCCCCT CCCTTCTCCCTCCCCCATCCCCTCCCCCTCCCCTCTCCCTCCCCCCTCCC CTCCCCATCCCCCTCCCCCCTCCCCTCCCCCATCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCCATCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCT TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCTCCTCCCTCCCCC TTCTCCGTCCTCCTTCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTC CCCTCCTCCCCCCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NXN_chr17_794310_984776	949527	G G	GGCCTCCT others(597): Show GGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC TGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCGCGGCCTCCTACTCTCCCCCCTGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCC TCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCC CCGTGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTC CTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGC CTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCC CCCCT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	242	0.0041	604	c.360 others(623): Show c.360+29791_360+29792insAGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGC AGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCAGGGGGAGAGGAGGAGGCCACGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGG GGAGAGTAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAG GCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGA GGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGG GGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAG GCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGA GGAGGAGGCAGGGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR2AT4_chr11_75076753_75101876	75098814	G G	GGACACTC others(597): Show GGACACTCTGTATCTAGCTACTCTGGTGGGACCTTGGAGAACCTTTATGT CTAGCTCAGGGATTGTAAATACACCAATCAGCACTCTGTATCTAGCTCAA GGTGTGTAAACACACCAACCAGCACCCTGTGTCTAGCTCAGGGTTTGTGA ATGCACCAATTGACACTCTGTATCTAGCTACTCTGGTGGGGCCTTGGAGA ACCTTTGTGTCCATACTCTGTATCTAACTAATCTGGTGGGGACGTTGAGA ACATTTCTGTCTAGCTCAGGGTTTGTGAGTGCACCAGTCGACACTCTGTA GCTGCTCTGGTGGGGCCTTGGAGAATCTTTATGTCTAGCTCAGGGATTGT AAATACACCAATCGGCACTCTGTGTCTAGCTCAAGGTTTGTAAACACACC AATCAGGACCCTGTGTCTAGCTCAGGGTTTGTGAGTGCACCAATCGACAC TCTGTATCTAGCTGCTCTGGTGGGGCCTTGGAGAACCTTTGTGTCTAGCC CAGGGATTGTAAATACACCAATCGGCACTCTGTGTCTAGCTCAAGGTTTG TAAACACACCAATCAGCACCCTGTGTCTAGCTCAGGGTTTGTGAGTGCAC CAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG02572.hp2 others(4): Show HG01884.hp1 HG02280.hp2 HG02572.hp2 HG02886.hp2 HG03209.hp2 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0017 a0001c0003t0021 a0001c0003t0016 a0001c0003t0017 a0001c0003t0021	a0001c0003t0016g0031 a0001c0003t0016g0107 a0001c0003t0017g0021 others(1): Show a0001c0003t0016g0031 a0001c0003t0016g0107 a0001c0003t0017g0021 a0001c0003t0021g0032	7	416	0.0168	604	c.-26 others(615): Show c.-2639_-2638insAATTGGTGCACTCACAAACCCTGAGCTAGACACA GGGTGCTGATTGGTGTGTTTACAAACCTTGAGCTAGACACAGAGTGCCGA TTGGTGTATTTACAATCCCTGGGCTAGACACAAAGGTTCTCCAAGGCCCC ACCAGAGCAGCTAGATACAGAGTGTCGATTGGTGCACTCACAAACCCTGA GCTAGACACAGGGTCCTGATTGGTGTGTTTACAAACCTTGAGCTAGACAC AGAGTGCCGATTGGTGTATTTACAATCCCTGAGCTAGACATAAAGATTCT CCAAGGCCCCACCAGAGCAGCTACAGAGTGTCGACTGGTGCACTCACAAA CCCTGAGCTAGACAGAAATGTTCTCAACGTCCCCACCAGATTAGTTAGAT ACAGAGTATGGACACAAAGGTTCTCCAAGGCCCCACCAGAGTAGCTAGAT ACAGAGTGTCAATTGGTGCATTCACAAACCCTGAGCTAGACACAGGGTGC TGGTTGGTGTGTTTACACACCTTGAGCTAGATACAGAGTGCTGATTGGTG TATTTACAATCCCTGAGCTAGACATAAAGGTTCTCCAAGGTCCCACCAGA GTAGCTAGATACAGAGTGTC	OR2AT4	ENSG00000171561.4	transcript	ENST00000641504.1	protein_coding		1939		chr11	TogoVar
PDXK_chr21_43714129_43767299	43741188	G G	GGGGGGCT others(597): Show GGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGG GGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTGGCGGGGGGC TCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTGGC GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTC GCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTGGCGGG GGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCG GGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTGGCGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTG GCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTGGCGGGGGG CTGGC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0107 a0001c0001t0097g0107	1	358	0.0028	604	c.143 others(619): Show c.143-474_143-473insCTCGCGGGGGGGCTGGCGGGGGGCTGGCGG GGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGG GGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTC GCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTGGC GGGGGGCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTG GCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGG GGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGC GGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTGGCGGGGGGCTGGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PHF2_chr9_93571584_93684587	93618890	T T	TGTGTTTC others(597): Show TGTGTTTCCATGTGTGTGTTTGCATATGTGGTATGTGTGATGTGTGTGTG CATGTGTCTGTTTTGTGTTTGCATGTGTGTTTTGTGTGTGTGCCTGGATG TGTGGTATGTGTGTGTGCCTGGAGGTGTGGTGTGTGTATGTGTACCTGTG TGTCTGTGTGTGTAATGTGTGTGGCTGCGTGTGTGGTGTTTGTGTGTCTG CGTGTGTGTGGTGTGTGTTGTGTGTTTGCCCGTGTGGTGGGGTGTGTCTG TGTCTGCATGTGTGTGGTGTGTGGTGTGTCTGTATGTATGTTGTATATTT CTGTGTGCATGTGTGGTGTGTTTCTGTGTGTGATGTGTGTGTGTCTGTGG GGGTGTATGTGTCTGCGTGTGTATTTGTGTCTGCATATGTGTGGTGTGTT TGCGTGTTTGGGTATGTATGTGTGTCTGTGTGATGTGTATGTGTGTCTGC ATGTGTGGTGTGTGTGCATGTTTGTGTCTGTGTGTAGTGTGTGTATGTAT CTCTGAATGTGTGTTGTGTCTGGTGTGTGTATTGTGTGTTTTGTTGTGTG GCATGTGTCCGCATGTGTGTTGTGTGTGTGTGTGTGGTGTGTCTGCATGT GTGTG	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	350	0.0029	604	c.99- others(621): Show c.99-11076_99-11075insTTCCATGTGTGTGTTTGCATATGTGGTA TGTGTGATGTGTGTGTGCATGTGTCTGTTTTGTGTTTGCATGTGTGTTTT GTGTGTGTGCCTGGATGTGTGGTATGTGTGTGTGCCTGGAGGTGTGGTGT GTGTATGTGTACCTGTGTGTCTGTGTGTGTAATGTGTGTGGCTGCGTGTG TGGTGTTTGTGTGTCTGCGTGTGTGTGGTGTGTGTTGTGTGTTTGCCCGT GTGGTGGGGTGTGTCTGTGTCTGCATGTGTGTGGTGTGTGGTGTGTCTGT ATGTATGTTGTATATTTCTGTGTGCATGTGTGGTGTGTTTCTGTGTGTGA TGTGTGTGTGTCTGTGGGGGTGTATGTGTCTGCGTGTGTATTTGTGTCTG CATATGTGTGGTGTGTTTGCGTGTTTGGGTATGTATGTGTGTCTGTGTGA TGTGTATGTGTGTCTGCATGTGTGGTGTGTGTGCATGTTTGTGTCTGTGT GTAGTGTGTGTATGTATCTCTGAATGTGTGTTGTGTCTGGTGTGTGTATT GTGTGTTTTGTTGTGTGGCATGTGTCCGCATGTGTGTTGTGTGTGTGTGT GTGGTGTGTCTGCATGTGTGTGGTGT	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIAS4_chr19_4002736_4044386	4011956	T T	TGTGTGGG others(597): Show TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAG CTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAAG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTG GAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGT GGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTG TGGAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0305 a0001c0004t0003g0305	1	334	0.0030	604	c.28- others(617): Show c.28-929_28-928insTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTTTGGTGTGGAAGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP6R2_chr22_50338327_50450090	50344838	T T	TCCCCCCC others(597): Show TCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCCCCAGTCAGTGCCC CCTCTAGTCAGTTCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTTCCCCC CAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGT CAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGC CCCCTCCAGTCAGTTCCCCCCAGTCAGTGCCCCCCCAGTCAGTTTCCCCC CAGTCAGTGCCCCCCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCCAGTCA GTGCCCCCTCCAGTCAATTCCCCCCAGTCAGTGCCTCCTCCAGTCAATTC CCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCCCCTC CAGTCAGTTCCCCCCAGTCAGTGCCCCCCCAGTCAGTTTCCCCCCAGTCA GTGCCCCCCAGTCAGTGCCCCCTCCAGTTAATTCCCCCTAGTCAGTGCCC CCTCCAGTCAGTTCCCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCC AGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCCCCTCCAGTC AGTTC	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA19086.hp2 HG03491.hp2 NA19086.hp2	a0001 a0017 a0001 a0017	a0001c0001 a0017c0025 a0001c0001 a0017c0025	a0001c0001t0006 a0017c0025t0006 a0001c0001t0006 a0017c0025t0006	a0001c0001t0006g0046 a0017c0025t0006g0066 a0001c0001t0006g0046 a0017c0025t0006g0066	2	340	0.0059	604	c.-14 others(623): Show c.-148+1381_-148+1382insTCCCCCCAGTCAGTGCCTCCTCCAGT CAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGC CTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCC CAGTCAGTGCCCCCCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCCCAGTC AGTTTCCCCCCAGTCAGTGCCCCCCAGTCAGTGCCCCCTCCAGTCAATTC CCCCCAGTCAGTGCCTCCTCCAGTCAATTCCCCCCAGTCAGTGCCTCCTC CAGTCAGTTTCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCAGTCA GTGCCCCCCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCCAGTCAGTGCCC CCTCCAGTTAATTCCCCCTAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCC AGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTC AGTTTCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCCAGTCAGTG CCCCCTCTAGTCAGTTCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCC CCCCAGTCAGTGCCCCCTCTAGTCAGTT	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(597): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGA TGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGG TGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGGTG GTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGG TGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGATGATGGTGGTG GTGGTGATAATGGTGATGGTGGTGATGGTGGTGGTAATGGTGATGGTGAT GATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGT GGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTGGTGG TGGTGATAATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGT GGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 NA18963.hp2 NA18969.hp2 others(3): Show HG00621.hp1 NA18963.hp2 NA18969.hp2 NA18979.hp1 NA19085.hp2 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0143 a0002c0002t0001g0147 others(2): Show a0002c0002t0001g0001 a0002c0002t0001g0143 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149	6	374	0.0160	604	c.-46 others(615): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGG GGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTGATA ATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGG TAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTG ATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGGTGGT AATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAATGGT GATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGA TGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTGGTA ATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGT GGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RASA3_chr13_113972783_114137623	114119620	G G	GCCCCTCC others(597): Show GCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAGGGCCCCCCCTCCTCTCT CCAGCCAGGCGTCGATCAAGTCCCCCCCTTCTCTCCAGCCAGACGTCGAT CAGGGCCCCCCTCCCCTCTCCAGCCAGACGTCGATCAGGGCCCCCCTCCC CTCTCCAGCCAGACGTCGATCAGGGCCCCCCTCCCCTCTCCAGCCAGGCG TCGATCAGGGCCCCCCCTCCCTCTCTCCAGCCAGACGTCGATCAGGGCCC CCCCTCCCCTCTCCAGCCTGGCGTCGATCAGGGCCCCCCTCCCCTCTCCA GCCAGGCGTCGATCAGGGCCCCCCTCCCTCTCTCCAGCCAGGCGTCGATC AAGTCCCCCCCTTCTCTCCAGCCAGGCGTCGATCAGGGCCCCCCCTCCCT CTCTCCAGCCAGGCGTCGATCAGGGCCCCCCCTCCCTCTCTCCAGCCAGG CGTCGATCAGGGCCCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAAGTCC CCCCCTTCTCTCCAGCCAGGCGTCGATCAGGGCCCCCCCTCCCCTCTCCA GCCTGGCGTCGATCAGGGCCCCCCTCCCCTCTCCAGCCAGGCGTCGATCA GTGCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	67	0.0149	604	c.55+ others(621): Show c.55+12814_55+12815insGGCACTGATCGACGCCTGGCTGGAGAGG GGAGGGGGGCCCTGATCGACGCCAGGCTGGAGAGGGGAGGGGGGGCCCTG ATCGACGCCTGGCTGGAGAGAAGGGGGGGACTTGATCGACGCCTGGCTGG AGAGAGGGAGGGGGGCCCTGATCGACGCCTGGCTGGAGAGAGGGAGGGGG GGCCCTGATCGACGCCTGGCTGGAGAGAGGGAGGGGGGGCCCTGATCGAC GCCTGGCTGGAGAGAAGGGGGGGACTTGATCGACGCCTGGCTGGAGAGAG GGAGGGGGGCCCTGATCGACGCCTGGCTGGAGAGGGGAGGGGGGCCCTGA TCGACGCCAGGCTGGAGAGGGGAGGGGGGGCCCTGATCGACGTCTGGCTG GAGAGAGGGAGGGGGGGCCCTGATCGACGCCTGGCTGGAGAGGGGAGGGG GGCCCTGATCGACGTCTGGCTGGAGAGGGGAGGGGGGCCCTGATCGACGT CTGGCTGGAGAGGGGAGGGGGGCCCTGATCGACGTCTGGCTGGAGAGAAG GGGGGGACTTGATCGACGCCTGGCTGGAGAGAGGAGGGGGGGCCCTGATC GACGCCTGGCTGGAGAGAGGGAGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RORA_chr15_60483284_61234302	60816082	G G	GTATTTAT others(597): Show GTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTAT ATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGT ATATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACA GTATATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAA CAGTATATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTA AACAGTATATGTATTTATATACTGTAAACAGTATATGTATTTATATACTG TAAACAGTATATGTATTTATATACTGTAAACAGTATATGTATTTATATAC TGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGTATTTATAT ACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGTATTTAT ATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGTATTT ATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGTAT TTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGT ATTTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0117 a0001c0001t0022g0117	1	118	0.0085	604	c.167 others(625): Show c.167-137397_167-137396insTAAATACATATACTGTTTACAGTA TATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTTACAG TATATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTTAC AGTATATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTT ACAGTATATAAATACATATACTGTTTACAGTATATAAATACATATACTGT TTACAGTATATAAATACATATACTGTTTACAGTATATAAATACATATACT GTTTACAGTATATAAATACATATACTGTTTACAGTATATAAATACATATA CTGTTTACAGTATATAAATACATATACTGTTTACAGTATATAAATACATA TACTGTTTACAGTATATAAATACATATACTGTTTACAGTATATAAATACA TATACTGTTTACAGTATATAAATACATATACTGTTTACAGTATATAAATA CATATACTGTTTACAGTATATAAATACATATACTGTTTACAGTATATAAA TACATATACTGTTTACAGTATATAAATACATATACTGTTTACAGTATATA AATACATATACTGTTTACAGTATATAAATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPA3_chr7_7631518_7723607	7679065	T T	TATAAATA others(597): Show TATAAATATATATTTATATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACAT ATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAAT ACATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTAT AGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATA TATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAA TATATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATT TATAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0291 a0001c0001t0005g0291	1	308	0.0033	604	c.-75 others(623): Show c.-758+6764_-758+6765insCTATAAATTAAATATATAAATATATT TATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATA TAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTAT AAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATAT GTATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAA ATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAA ATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAA ATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAT GTAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAA ATATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAA CTAAATATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTA TAAACTAAATATATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679153	A A	AAATATAT others(597): Show AAATATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGT TTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATT TAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTATTTAGT TTATAAATATATATTTATTTAGTTTATAAATATATATTTATTTAGTTTAT AAATATATATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAAT ATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAAT ATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATATTT ACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACAT ATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAAT ACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTAT AAATATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGT TTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATT TAGTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0299 a0001c0001t0019g0299	1	308	0.0033	604	c.-75 others(623): Show c.-758+6676_-758+6677insAACTAAATATATAAATATATATTTAT AAACTAAATATATAAATATATATTTATAAACTAAATATATAAATATATAT TTATAAACTAAATATATAAATATATATTTATAAACTAAATATGTAAATAT GTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAT GTAAATATGTATTTATAAACTAAATATGTAAATATTTATAAACTAAATAT GTAAATATTTATAAACTAAATATGTAAATATTTATAAACTAAATAAATAT ATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATAT ATATTTATAAACTAAATAAATATATATTTATAAACTAAATAAATATATAT TTATAAACTAAATAAATATATATTTATAAACTAAATAAATATATATTTAT AAACTAAATAAATATATATTTATAAACTAAATATATAAATATATATTTAT AAACTAAATATATAAATATATATTTATAAACTAAATATATAAATATATAT TTATAAACTAAATATATAAATATATATT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SAMD11_chr1_918923_949574	934064	A A	AGGGGGGG others(597): Show AGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCT CCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCG GCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGG GAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGG GCGGGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGG TGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGG CTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGT GGGCG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0004 a0002c0018t0004	a0002c0018t0004g0226 a0002c0018t0004g0226	1	434	0.0023	604	c.843 others(621): Show c.843-1704_843-1703insGGGCGGCTCCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCGG GGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGT GGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGCGGCTGCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCAGG GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGC GGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCG TTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCG GCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGG GCGGCTGCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(597): Show ACATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCCAC ACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCACCC ACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCC ACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTAT CCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCCATCCAC CCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCACCCACCCACCCACCCATCCATCCATCCATCCACCCACCCAC CCACC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01123.hp2 HG01358.hp2 others(4): Show HG01071.hp2 HG01123.hp2 HG01358.hp2 HG01981.hp2 HG01993.hp1 HG02293.hp1 NA19055.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0054 a0003c0003t0001g0092 a0003c0003t0001g0001 a0003c0003t0001g0054 a0003c0003t0001g0092	7	378	0.0185	604	c.937 others(621): Show c.937-1228_937-1227insCCATCCACTCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCCACACACAC ACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCACCCACCCAT CCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCCATCCACCC ATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTCAT CCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCC ATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCC ACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCCACCCACCCACCCATCCATCCATCCATCCACCCACCCACCCACCC ATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(597): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC GTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCAAC CCATCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTC ATTCATCCATCCATCCATCCATCTACCCATCCACCCACCCACCCACACAC CTATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCATCCACCC ACCCACCCACCCACCCACCCATCCATCCATCCACCCACCCACCCACCCAC CCACC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0314 a0001c0002t0002g0314	1	378	0.0027	604	c.937 others(621): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCAACCCATCC ACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCATTCAT CCATCCATCCATCCATCTACCCATCCACCCACCCACCCACACACCTATCC ATCCATCCATCCATCCATCCATCCATCCATCCACCCATCCACCCACCCAC CCACCCACCCACCCATCCATCCATCCACCCACCCACCCACCCACCCACCC ATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(597): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC GTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCAAC CCATCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTC ATTCATCCATCCATCCATCCATCTACCCATCCACCCACCCACCCACACAC CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCC ACCCACCCACCCACCCACCCATCCATCCATCCACCCACCCACCCACCCAC CCACC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00735.hp2 others(17): Show HG00544.hp1 HG00558.hp1 HG00735.hp2 HG01070.hp1 HG01192.hp1 HG01261.hp2 HG02071.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03704.hp2 HG03927.hp1 HG03942.hp1 NA18939.hp1 NA19003.hp2 NA19066.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0184 others(15): Show a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0184 a0001c0002t0002g0274 a0001c0002t0002g0278 a0001c0002t0002g0282 a0001c0002t0002g0284 a0001c0002t0002g0289 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0296 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0311 a0001c0002t0002g0315	20	378	0.0529	604	c.937 others(621): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCAACCCATCC ACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCATTCAT CCATCCATCCATCCATCTACCCATCCACCCACCCACCCACACACCTATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCAC CCACCCACCCACCCATCCATCCATCCACCCACCCACCCACCCACCCACCC ATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(597): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCAC CCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCC ATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCC GTCCATCCATCCACCCATCCACCCATCCACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCAT CCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCCAT CCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCC ATCCATCCACCCACCCACCCACCCACCCACCCATCCATCCACCCACCCAC CCACC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0124 a0001c0010t0001g0124	1	378	0.0027	604	c.937 others(621): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCC ACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCAC CCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCATCC ACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCCATCCACCC ACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCCACCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCC ATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(597): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCAC CCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCC ATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCC GTCCATCCATCCACCCATCCACCCATCCACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCAT CCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCCATCCAC CCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCACCCACCCAC CCACC	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19085.hp2 HG02257.hp2 NA19085.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0146 a0001c0004t0002g0037 a0001c0004t0001g0146 a0001c0004t0002g0037	2	378	0.0053	604	c.937 others(621): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCC ACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCAC CCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCATCC ACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCC ACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCCACCCACCCACCCACCCATCCATCCATCCACCCACCCACCCACCC ATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(597): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCAC CCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCC ATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCC GTCCATCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCAC ACACCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCC ATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCCATCCAC CCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCACCCACCCACCCACCCATCCATCCATCCATCCACCCACCCAC CCACC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0053 a0001c0009t0001g0053	1	378	0.0027	604	c.937 others(621): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCC ACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCAC CCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCAT CCATCCATCCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCC ACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCCACCCACCCACCCATCCATCCATCCATCCACCCACCCACCCACCC ATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(597): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCAC CCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCC ATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCC GTCCATCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCAC ACACCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCC ATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCCAT CCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCC ATCCATCCACCCACCCACCCACCCATCCATCCATCCATCCACCCACCCAC CCACC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0230 a0002c0011t0001g0230	1	378	0.0027	604	c.937 others(621): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCC ACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCAC CCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCAT CCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCCATCCACCC ACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCCACCCACCCACCCATCCATCCATCCATCCACCCACCCACCCACCC ATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(597): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAT CCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCACCCACCCACCCACCCACCTACCCAC CCACACACCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCAT CCACCCATCAACCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCCAC CCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ACCCACCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCAC CCATC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0176 a0001c0008t0001g0176	1	378	0.0027	604	c.937 others(621): Show c.937-1228_937-1227insCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCC ATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCACCCACCCACCTACCCACCCACAC ACCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCAT CCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCC ATCAACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT TCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCCACCCACAC ACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCAC CCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCACCCATCC ATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(597): Show CCACGCAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCG GGGCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0005 a0023c0035t0005	a0023c0035t0005g0058 a0023c0035t0005g0058	1	116	0.0086	604	c.199 others(623): Show c.1994+2495_1994+2496insCACGCAGAGGATCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTC CAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)