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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⚠️ 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
MYT1L_chr2_1784113_2336275	1952734	T T	TCCCCCTT others(513): Show TCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCC CCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCC TTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCCTTC CTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCCTTCCTC CCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCT CTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTC TCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCC CTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTC CCTCCTTCTCTTCCCTCCCTCCCTCTTCCTCCCTCTCTCCCTCCCTCCTT CTCTTCCCTCCCTCCCTTTCTTTCCTTCCCTCCTTCCTTTCCTTCCCTTC TTTCCCTCCTTCCTTCCTTTC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0024 a0001c0005t0024	a0001c0005t0024g0063 a0001c0005t0024g0063	1	104	0.0096	520	c.153 others(537): Show c.153-9401_153-9400insGAAAGGAAGGAAGGAGGGAAAGAAGGGA AGGAAAGGAAGGAGGGAAGGAAAGAAAGGGAGGGAGGGAAGAGAAGGAGG GAGGGAGAGAGGGAGGAAGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAG AGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGA GGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGG AGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGG AAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAG GGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGG GAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAG GGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGA GGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
NCAPG2_chr7_158626169_158709804	158648682	C C	CCACGCCA others(513): Show CCACGCCAAATGGACTACAACCACGGCAAATGGACTACAACCACGGCAAA TGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAA CCACGGCAAATGGACTACAACCACGGCAAATGGACTACAACCACGGCAAA TGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAA CCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAA TGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAA CCAGGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAA TGGACTACAACCACGGCAAATGGACTACAACCACGCCAAATGGACTACAA CCACGCCAAATGGACTATAACCACGCCAAATGGACTATAACCACGCCAAA TGGACTATAACCACGCCAAATGGACTATAACCACGGCAAATGGACTATAA CCACGCCAAATGGACTACAAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	378	0.0027	520	c.307 others(539): Show c.3076-2120_3076-2119insATTGTAGTCCATTTGGCGTGGTTATA GTCCATTTGCCGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGG CGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGTGGTTGTA GTCCATTTGGCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTGG CGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCCTGGTTGTA GTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGG CGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTA GTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGC CGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTGCCGTGGTTGTA GTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGC CGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTGGCGTG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158648787	C C	CCAAATGG others(513): Show CCAAATGGACTACAACCACGGCAAATGGACTACAACCACGGCAAATGGAC TACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACG CCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGAC TACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCAGG CCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGAC TACAACCACGGCAAATGGACTACAACCACGCCAAATGGACTACAACCACG CCAAATGGACTATAACCACGCCAAATGGACTATAACCACGCCAAATGGAC TATAACCACGCCAAATGGACTATAACCACGGCAAATGGACTATAACCACG CCAAATGGACTACAATCACGCCAAATGGACTACAACCACGCCAAATGGAC TACAACCACGCCAAATGGACTACAACCACGGCAAATGGACTATAACCACG CCAAATGGACTACAACCACGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00642.hp2 others(15): Show HG00099.hp2 HG00323.hp2 HG00642.hp2 HG00738.hp2 HG01433.hp2 HG02148.hp1 HG02293.hp1 HG02602.hp2 HG02698.hp1 HG02738.hp2 HG03017.hp2 HG03942.hp2 NA18957.hp1 NA18990.hp2 NA18998.hp1 NA19002.hp2 NA19009.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0034 a0001c0001t0002g0017 a0001c0001t0002g0043 others(15): Show a0001c0001t0001g0034 a0001c0001t0002g0017 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0132 a0001c0001t0002g0342	18	378	0.0476	520	c.307 others(539): Show c.3075+2044_3075+2045insCCGTGGTTGTAGTCCATTTGGCGTGG TTATAGTCCATTTGCCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCA TTTGGCGTGGTTGTAGTCCATTTGGCGTGATTGTAGTCCATTTGGCGTGG TTATAGTCCATTTGCCGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCA TTTGGCGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGTGG TTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTCCA TTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCCTGG TTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCA TTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGG TTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCA TTTGCCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158648787	C C	CCAAATGG others(513): Show CCAAATGGACTACAACCACGGCAAATGGACTACAACCACGGCAAATGGAC TACAACCACGGCAAATGGACTACAACCACGCCAAATGGACTACAACCACG CCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGAC TACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCAGG CCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGAC TACAACCACGGCAAATGGACTACAACCACGCCAAATGGACTACAACCACG CCAAATGGACTATAACCACGCCAAATGGACTATAACCACGCCAAATGGAC TATAACCACGCCAAATGGACTATAACCACGGCAAATGGACTATAACCACG CCAAATGGACTACAATCACGCCAAATGGACTACAACCACGCCAAATGGAC TACAACCACGCCAAATGGACTACAACCACGGCAAATGGACTATAACCACG CCAAATGGACTACAACCACGG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	378	0.0027	520	c.307 others(539): Show c.3075+2044_3075+2045insCCGTGGTTGTAGTCCATTTGGCGTGG TTATAGTCCATTTGCCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCA TTTGGCGTGGTTGTAGTCCATTTGGCGTGATTGTAGTCCATTTGGCGTGG TTATAGTCCATTTGCCGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCA TTTGGCGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGTGG TTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTCCA TTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCCTGG TTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCA TTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGG TTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTCCA TTTGCCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158648819	C C	CAACCACG others(513): Show CAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCC AAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTA CAACCAGGCCAAATGGACTACAACCAGGCCAAATGGACTACAACCACGCC AAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTA CAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCC AAATGGACTATAACCACGCCAAATGGACTATAACCACGCCAAATGGACTA TAACCACGCCAAATGGACTATAACCACGCCAAATGGACTATAACCACGGC AAATGGACTATAACCACGCCAAATGGACTACAATCACGGCAAATGGACTA CAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCC AAATGGACTATAACCACGCCAAATGGACTACAACCACGGCAAATGGACTA CAACCACGCCAAATGGACTAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18522.hp2 HG02965.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0349 a0001c0001t0001g0347 a0001c0001t0001g0349	2	378	0.0053	520	c.307 others(539): Show c.3075+2012_3075+2013insATAGTCCATTTGGCGTGGTTGTAGTC CATTTGCCGTGGTTGTAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGCCGTGATTGTAGTCCATTTGGCGTGGTTATAGTCCATTTGCCGT GGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGTGGTTATAGTC CATTTGGCGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCCTGGTTGTAGTCCATTTGGCCTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTT	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158648819	C C	CAACCACG others(513): Show CAACCACGGCAAATGGACTACAACCACGGCAAATGGACTACAACCACGCC AAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTA CAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCC AAATGGACTACAACCAGGCCAAATGGACTACAACCACGCCAAATGGACTA CAACCACGCCAAATGGACTACAACCACGGCAAATGGACTACAACCACGCC AAATGGACTACAACCACGCCAAATGGACTATAACCACGCCAAATGGACTA TAACCACGCCAAATGGACTATAACCACGCCAAATGGACTATAACCACGGC AAATGGACTATAACCACGCCAAATGGACTACAATCACGCCAAATGGACTA CAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGGC AAATGGACTATAACCACGCCAAATGGACTACAACCACGGCAAATGGACTA CAACCACGCCAAATGGACTAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	378	0.0027	520	c.307 others(539): Show c.3075+2012_3075+2013insATAGTCCATTTGGCGTGGTTGTAGTC CATTTGCCGTGGTTGTAGTCCATTTGGCGTGGTTATAGTCCATTTGCCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCGTGATTGTAGTCCATTTGGCGTGGTTATAGTCCATTTGCCGT GGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGTGGTTATAGTC CATTTGGCGTGGTTATAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGT GGTTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGGCCTGGTTGTAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGT GGTTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTGCCGTGGTT	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668325	C C	CGCCCTCC others(513): Show CGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTG GGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACC CACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCC TCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTC CCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCGCCTTACCCAC TACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCC TTACCTACCCTCTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCG CCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTCTGG CCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCGACC CTGGGTCCCTCCGCCCCCCCTTACCCACTACTGGGTCCCTCTGCCCTCCC TTACCTACCTTGTGTCCCTAG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	378	0.0027	520	c.147 others(539): Show c.1479+3188_1479+3189insCTAGGGACACAAGGTAGGTAAGGGAG GGCAGAGGGACCCAGTAGTGGGTAAGGGGGGGCGGAGGGACCCAGGGTCG GTAAGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGA GGGTAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAG GGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGGGTAGGTAAGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGG TAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCC AGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCG GAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAA GGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTA GTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGC	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCOR2_chr12_124319415_124572612	124320025	G G	GGATGACA others(513): Show GGATGACATCTTTCTTTGGGGGCAGGTGGGATGACCTCTTTCTTTGGGGG CGGGTGGGATGACCTCTTTCTTTGGGGGGAGGTGGGATGACCTCTTTCTT TGGGGGCGGGTGGGATGACCTCTTTCTTTGGGGGTGGGTGGGATGACATC TTTGGGGGCAGGTGGGATGACCTCTTTCTTTGGGGGCAGGTGGGATGACA TCTTTCTTTGGGGGCAGGTGGGATGACATCTTTCTTTGGGGGCAGGTGGG ATGACATCTTTCTTTGGGGGCAGGTGGGATGACCTCTTTCTTTGGGGGCG GGTGGGATGACCTCTTTCTTTGGGGGGAGGTGGGATGACCTCTTTCTTTG GGGGTGGGTGGGATGACATCTTTGGGGGCAGGTGGGATGACCTCTTTCTT TGGGGGTAGGTGGGATGACATCTTTGGGGGCAGTTGGGATGACCTCTTTC TTTGGGGGCGGGTGGGATGACCTCTTTCTTTGGGGGTAAGTGGGATGACC TCTTTGTTTGCGGGTAGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19081.hp2 NA19012.hp2 NA19081.hp2	a0002 a0005 a0002 a0005	a0002c0152 a0005c0139 a0002c0152 a0005c0139	a0002c0152t0040 a0005c0139t0040 a0002c0152t0040 a0005c0139t0040	a0002c0152t0040g0217 a0005c0139t0040g0212 a0002c0152t0040g0217 a0005c0139t0040g0212	2	234	0.0086	520	c.53 others(531): Show c.5376_*5377insTCACCTACCCGCAAACAAAGAGGTCATCCCACTT ACCCCCAAAGAAAGAGGTCATCCCACCCGCCCCCAAAGAAAGAGGTCATC CCAACTGCCCCCAAAGATGTCATCCCACCTACCCCCAAAGAAAGAGGTCA TCCCACCTGCCCCCAAAGATGTCATCCCACCCACCCCCAAAGAAAGAGGT CATCCCACCTCCCCCCAAAGAAAGAGGTCATCCCACCCGCCCCCAAAGAA AGAGGTCATCCCACCTGCCCCCAAAGAAAGATGTCATCCCACCTGCCCCC AAAGAAAGATGTCATCCCACCTGCCCCCAAAGAAAGATGTCATCCCACCT GCCCCCAAAGAAAGAGGTCATCCCACCTGCCCCCAAAGATGTCATCCCAC CCACCCCCAAAGAAAGAGGTCATCCCACCCGCCCCCAAAGAAAGAGGTCA TCCCACCTCCCCCCAAAGAAAGAGGTCATCCCACCCGCCCCCAAAGAAAG AGGTCATCCCACCTGCCCCCAAAGAAAGATGTCATC	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding		4389		chr12	TogoVar
NEDD4L_chr18_58039226_58406539	58209261	T T	TCCTCCCC others(513): Show TCCTCCCCCTCCTCCTCCACCTCCTCCTCGTCCTCCACCTCCATCTCCTC TCCATCCTCCTCCTCCACCTCCACCTCCTCCTCCCTCTCCTCCTCCTCCC CCTCCTCCTCGTCCTCTACCTCCTCCTCCTCCACCACCTCCATCTGCTCC TCCTCCTCCCCCTCCACCTCCCCCTCCGCCTCCTCCTCCCTCTCCTCCTC CCCCTCCACCTCCACCTCTTCCTCCCCACCTCCTCCCCCACCCCCTCCTT CTCAACCTCCGCCTCCCCTTCCTCCTCATCATCCTCCACCTCCACCTCCC CCTGTTCCTCCTCCTCCTCCTCCACCTCCACCCCCTCCTCCTCATCCTCC ACCCCCTCCTCCTCCTCCACCTCCAACTCCACCTCCTCATCCTGCACCTC CACGTCCTCCTCCCCCTCCACCTCCTCCTCCACCTGCACCTCCTCAACCT CCTCCTCCTCCTCCACCTCCCCCTCCCCCTCCTCCCCCTCCTCCTTAACC TCCACCTCCACCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA21309.hp1 HG03041.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0002c0003t0040 a0001c0001t0005 a0002c0003t0040	a0001c0001t0005g0090 a0002c0003t0040g0117 a0001c0001t0005g0090 a0002c0003t0040g0117	2	118	0.0170	520	c.123 others(539): Show c.123-36166_123-36165insCCTCCCCCTCCTCCTCCACCTCCTCC TCGTCCTCCACCTCCATCTCCTCTCCATCCTCCTCCTCCACCTCCACCTC CTCCTCCCTCTCCTCCTCCTCCCCCTCCTCCTCGTCCTCTACCTCCTCCT CCTCCACCACCTCCATCTGCTCCTCCTCCTCCCCCTCCACCTCCCCCTCC GCCTCCTCCTCCCTCTCCTCCTCCCCCTCCACCTCCACCTCTTCCTCCCC ACCTCCTCCCCCACCCCCTCCTTCTCAACCTCCGCCTCCCCTTCCTCCTC ATCATCCTCCACCTCCACCTCCCCCTGTTCCTCCTCCTCCTCCTCCACCT CCACCCCCTCCTCCTCATCCTCCACCCCCTCCTCCTCCTCCACCTCCAAC TCCACCTCCTCATCCTGCACCTCCACGTCCTCCTCCCCCTCCACCTCCTC CTCCACCTGCACCTCCTCAACCTCCTCCTCCTCCTCCACCTCCCCCTCCC CCTCCTCCCCCTCCTCCTTAACCTCCACCTCCACCTCCTCCTCC	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30			chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532188	T T	TCGGCAGA others(513): Show TCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0032 a0001c0014t0032	a0001c0014t0032g0199 a0001c0014t0032g0199	1	322	0.0031	520	c.46 others(531): Show c.4611_*4612insCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2866		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532188	T T	TCGGCAGA others(513): Show TCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0083 a0001c0005t0005g0083	1	322	0.0031	520	c.46 others(531): Show c.4611_*4612insCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2866		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532257	T T	TCCCCCGC others(513): Show TCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCC CTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCT CCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAG TCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCC CTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAG CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCGCCTGCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG01884.hp1 HG02257.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0019 a0002c0023t0019	a0002c0023t0019g0318 a0002c0023t0019g0319 a0002c0023t0019g0318 a0002c0023t0019g0319	2	322	0.0062	520	c.46 others(531): Show c.4680_*4681insCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGG CAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCC TGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCC TGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2935		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532257	T T	TCCCCCGC others(513): Show TCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCC CTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCT CCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAG TCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCC CTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAG CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCGCCTGCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0019 a0002c0023t0019	a0002c0023t0019g0317 a0002c0023t0019g0317	1	322	0.0031	520	c.46 others(531): Show c.4680_*4681insCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGG CAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCC TGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCC TGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCC TGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2935		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532331	C C	CTGCAGCC others(513): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCG GCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGC CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	322	0.0031	520	c.47 others(531): Show c.4754_*4755insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCA GCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		3009		chr18	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TGTGTGTG others(513): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTC TGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTG TCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTA TGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTG TGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTG CCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTG TGTCTGGCTAGCCTGGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 NA18994.hp1 HG02165.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	424	0.0047	520	c.26 others(531): Show c.2689_*2690insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGC CCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAG CCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCC GTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGT GTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1614		chr16	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCACACCA others(513): Show TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCAC TCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCGGCCGCCTCGCTCACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	294	0.0034	520	c.902 others(535): Show c.902-960_902-959insACACCCCTAATCCCCTCGGTGAGTGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(513): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0012 a0002c0014t0012	a0002c0014t0012g0287 a0002c0014t0012g0287	1	422	0.0024	520	c.195 others(537): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATT ATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGT TACTATATATTAATATATACTAACTATATTAATATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOTCH1_chr9_136489433_136551048	136535607	G G	GGTGCAGG others(513): Show GGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGG GTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAAT GGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATG GGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAAT GGGTGCATGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATG GGTGCAGGGTGGGTGGAGGGGGGATCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCC GGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCC CAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGATCACTCAGGATCCCT CCCAGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCA GGATCCCTCCCGGGGCAATGA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0124 a0001c0002t0006g0124	1	324	0.0031	520	c.140 others(537): Show c.140+8416_140+8417insTCATTGCCCCGGGAGGGATCCTGAGTGC TCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGATCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGG ATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGATCCCCCCTCCACCCACCCTGCACCCATTGCC CCGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCATGCACCCATTGCCC CAGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCC CCGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGC CCCGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(513): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGACAGGGAGAGGGAGA GAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAG GGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAGAGGGAC AGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGG AGAGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGG GAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATG GGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGG AGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAG AGGGAGAGAGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0099 a0001c0001t0006g0099	1	386	0.0026	520	c.92 others(531): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTTTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTC CCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCT CCCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCC TCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCTCTCCCTCTCCCTCCC TCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTC CCCTCCCGCCCCCTCCCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCT CCCCCCTCCCCTCCCTCTCCCTCTCTCCCTCCCTCTCTCTCCCTCTCCCT GTCCCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCT CCCCCCTCCCCCTCCCTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCT CCCTCCCTCCCTGTCCCCCCTCTCCCCCTCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3705		chr12	TogoVar
ORC5_chr7_104121341_104213013	104124116	A A	AGACAGTA others(513): Show AGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGGGACTA CTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTGAGGA TGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGAG ACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTG AGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGT GGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAG TCTGAGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGT AAGTGGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACC ACAGTCTGAGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCAT GGGTAAGTGGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCA GACCACAGTCTGAGGATGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 NA18939.hp1 HG03942.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0310 a0001c0001t0002g0276 a0001c0001t0002g0310	2	366	0.0055	520	c.27 others(531): Show c.2731_*2732insCGTCATCCTCAGACTGTGGTCTGAAAATATTAAA TGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGATACTGCTTT CCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAAATAT TAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGATACTG CTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAA ATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGAT ACTGCTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCT GAAAATATTAAATGGAAAACACCAGAAATACAGTAGTCTCCACTTACCCA TGATACTGCTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTG GTCTGAAAATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTA CCCATGATACTGCTTTCCTTGAGTTCAGTTACTGTC	ORC5	ENSG00000164815.11	transcript	ENST00000297431.9	protein_coding		2224		chr7	TogoVar
ORC5_chr7_104121341_104213013	104124116	A A	AGACAGTA others(513): Show AGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGGGACTA CTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTGAGGA TGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGGG ACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTG AGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGT GGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAG TCTGAGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGT AAGTGGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACC ACAGTCTGAGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCAT GGGTAAGTGGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCA GACCACAGTCTGAGGATGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	366	0.0027	520	c.27 others(531): Show c.2731_*2732insCGTCATCCTCAGACTGTGGTCTGAAAATATTAAA TGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGATACTGCTTT CCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAAATAT TAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGATACTG CTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAA ATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGAT ACTGCTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCT GAAAATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCA TGATACTGCTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTG GTCTGAAAATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTA CCCATGATACTGCTTTCCTTGAGTTCAGTTACTGTC	ORC5	ENSG00000164815.11	transcript	ENST00000297431.9	protein_coding		2224		chr7	TogoVar
OSGIN1_chr16_83948240_83971332	83950683	A A	ACACACGT others(513): Show ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC CGGCACACGTACACACATGCACACATGAACACATGTGCACACGTACACAC ACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACAC GTACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCAC ACGTACACACACGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACTACCGTACACACATGCATACATGAGCACATGTGCACACAT GCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACAC ATGCCCATACACACTGGCACACACGTACACACACATGCACACATGAGCAC ATGTGCACACATGCACATACACACTGGCACACACGTACACACACATGCAC ACATGAGCACATGTGCACACATGCACATACATACCGGCACACGTACACAC ATGCACACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	350	0.0029	520	c.-27 others(531): Show c.-2720_-2719insCACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACCGGCACACGTACACACATGCACACATGAACACATG TGCACACGTACACACACGCACACATGAGCACATGTGCACACATGCACATA CATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCA CATACATACTGGCACACGTACACACACGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACACTACCGTACACACATGCATACATGAG CACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACATG AGCACATGTGCACACATGCCCATACACACTGGCACACACGTACACACACA TGCACACATGAGCACATGTGCACACATGCACATACACACTGGCACACACG TACACACACATGCACACATGAGCACATGTGCACACATGCACATACATACC GGCACACGTACACACATGCACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2556		chr16	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(513): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	436	0.0023	520	c.-26 others(531): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(513): Show TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGAACTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCGGATCTTTTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTTTTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTGTTCAGAATAGATCTATTCGGATCT GTTCAGAATAGATCTATTCGGATCTGTTCAGAATAGATCTATTCAGAATA GATCTATTCGGATCTGTTCAGAATAGATCTATTCAGAATAGATCTATTCG GATCTGTTCAGAATAGATCTATTCAGAATAGATCTATTCGGATCTGTTCA GAATAGATCTATTCGGATCTGTTCAGAATAGATCTATTCGGATCTGTTCA GAATAGATCTATTCGGATCTG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0241 a0001c0002t0002g0241	1	262	0.0038	520	c.129 others(537): Show c.129-5992_129-5991insCAGATCCGAATAGATCTATTCTGAACAG ATCCGAATAGATCTATTCTGAACAGATCCGAATAGATCTATTCTGAACAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAACAGATCCGAATAG ATCTATTCTGAATAGATCTATTCTGAACAGATCCGAATAGATCTATTCTG AATAGATCTATTCTGAACAGATCCGAATAGATCTATTCTGAACAGATCCG AATAGATCTATTCTGAACAGATCCGAATAGATCTATTCTGAATAGATCCG AATAGATCTATTCTGAAAAGATCCGAATAGATCTATTCTGAATAGATCCG AATAGATCTATTCTGAAAAGATCCGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGTTCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(513): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCTGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	262	0.0038	520	c.129 others(537): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCAGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAG ATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCCG AAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PGAP6_chr16_365788_386978	370393	A A	ACCCCGGC others(513): Show ACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCC CTACCCCGGCCCCCGGCTCTCACCCCCTATCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCA CCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCT CACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGG CTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCC CCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGGCTCTCACTCCCTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	376	0.0027	520	c.15 others(531): Show c.1593_*1594insGTAGGGAGTGAGAGCCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGGTAG CGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGT AGGGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCC GGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGATAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		394		chr16	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTGTGTG others(513): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTC TGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTG TCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTA TGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTG TGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTG CCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTG TGTCTGGCTAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18994.hp2 HG02165.hp1 NA18994.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0248 a0002c0001t0001g0319 a0002c0001t0001g0248 a0002c0001t0001g0319	2	408	0.0049	520	c.-10 others(537): Show c.-10+1012_-10+1013insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGT GTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCC TGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGT GGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTG GTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTA GCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCC GTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
PITPNM1_chr11_67486768_67510363	67499572	T T	TCCATCCA others(513): Show TCCATCCATCCATCCACCTACCCACCCGCCCACCCATCCATCCATCCACC CATTCATCCATCTACCCACCCACCCACCCACCCACCCATCCATCCACCCA CCCAACCATTCATCCATCCATCCATCTACCCACCCACCCAACCATCCATC CATCCATCCATCCACCTACCCACCCACCCACCCATCCATCCATCCATCCA ACCATTCATCCATCCATCCATCTAGCCACCCAACCACCCAACCATCAACC CACCCACCCACCCACCCATCCATCCGCCCACCCACCCAACCATTCATCCA TCCATCCATCCATCTACCCACCCACCCACCCACCCATCCACCCACCCATC CAACCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCACCTACCCACCCACCCACCCACCCATCTATCCATCCAACCATCCATC CATCCATCCATCTAGCCACCCATCCATCTACCCACCCACCCACCCACCTA CCCACCCATCCATCCATCCAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	300	0.0033	520	c.117 others(537): Show c.1171+150_1171+151insTTGGATGGATGGATGGGTGGGTAGGTGG GTGGGTGGGTGGGTAGATGGATGGGTGGCTAGATGGATGGATGGATGGAT GGTTGGATGGATAGATGGGTGGGTGGGTGGGTGGGTAGGTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGTTGGATGGGT GGGTGGATGGGTGGGTGGGTGGGTGGGTAGATGGATGGATGGATGGATGA ATGGTTGGGTGGGTGGGCGGATGGATGGGTGGGTGGGTGGGTGGGTTGAT GGTTGGGTGGTTGGGTGGCTAGATGGATGGATGGATGAATGGTTGGATGG ATGGATGGATGGGTGGGTGGGTGGGTAGGTGGATGGATGGATGGATGGAT GGTTGGGTGGGTGGGTAGATGGATGGATGGATGAATGGTTGGGTGGGTGG ATGGATGGGTGGGTGGGTGGGTGGGTGGGTAGATGGATGAATGGGTGGAT GGATGGATGGGTGGGCGGGTGGGTAGGTGGATGGATGGATGG	PITPNM1	ENSG00000110697.13	transcript	ENST00000356404.8	protein_coding	8/23			chr11	TogoVar
PKP3_chr11_389209_409908	398485	T T	TGCGTCAC others(513): Show TGCGTCACCTCCGTACCCCCGCACACACCTCTGTCACCTCCCTACCCCCG CACACACCTGCATCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCA TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCA CACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTA CCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCA CCTCCCTACCCCCGCACACAC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0060 a0001c0006t0001g0060	1	216	0.0046	520	c.106 others(537): Show c.1069-507_1069-506insGCGTCACCTCCGTACCCCCGCACACACC TCTGTCACCTCCCTACCCCCGCACACACCTGCATCACCTCCGTACCCCCG CACACACCTGTGTCACCTCCATACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCA CACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTA CCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12			chr11	TogoVar
PNPLA7_chr9_137454952_137555402	137503801	G G	GGAAGAAG others(513): Show GGAAGAAGGAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCA GAAAGAAGAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAA GGAAGAAGAAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAA AGAAGAAGAAGGAAGAAGAAGAAAGAAGAGGAAGAAGGAAGAAGAAAGAA GAAGGAAGAAGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGA AGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGAAGG AAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAG AAAGAAAGAAGAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGGAAG AGGAAGAAAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAAGAA GGAAGAAGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAA GGAAGAAGAAGGAAGAATGAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	188	0.0053	520	c.147 others(539): Show c.1473+1812_1473+1813insTTCATTCTTCCTTCTTCTTCCTTCTT CCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCCTTCTT CCTTCTTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTTCCTCTTCC TTTTTTCTTCTTCCTTTCTTCTTTCTTCTTCTTTCTTCTTTCTTTCTTCT TCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTC TTTTTCTTCCTTCTTGTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTC TTTCTTCCTTCTTCCTTCTCCTTCCTTCTTCCTTCTTCTTCCTTCTTCTT TCTTCTTCCTTCTTCCTCTTCTTTCTTCTTCTTCCTTCTTCTTCTTTCTT CCTTCTTTTTCTTCCTTCTTTTTCCTTCTTCCTTCTTCTTCTTCCTTCTT CCTTCTTCTTCCTTCTTCCTCCTTCTTCCTTCTTCTTCTTCTTTCTGCTT CTTCTTCCTTCTTCTTCCTTCTTCTTCTTTCTTCTTCCTTCTTC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PTDSS2_chr11_445279_496399	459194	C C	CGGACCTG others(513): Show CGGACCTGGGTTAGACGTGAGGACACACTCTGGTGGATGTAGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGATACACTCCAGTGGATGTCGGACCTGGGTTAGACGTGAGGATACACTC CAGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCTGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGATACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0012 a0004c0007t0012	a0004c0007t0012g0307 a0004c0007t0012g0307	1	346	0.0029	520	c.183 others(535): Show c.183-964_183-963insTGGTGGATGTAGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGATACACTC CAGTGGATGTCGGACCTGGGTTAGACGTGAGGATACACTCCAGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC TGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGATACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTC	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	459234	C C	CGGACCTG others(513): Show CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCTGGTGGATGTAGGACCTGGGTTAGACATGA GGACACACTCTGGTGGATGTCGGACCTGGGTTAGACGTGAGGATACACTC CGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT AGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTAGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTAGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	346	0.0029	520	c.183 others(535): Show c.183-804_183-803insCGGTGGATGTAGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCTGGTGGATGT AGGACCTGGGTTAGACATGAGGACACACTCTGGTGGATGTCGGACCTGGG TTAGACGTGAGGATACACTCCGGTGGATGTAGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT AGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTAGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTC	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(513): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCAGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGG GCTGACCCCCCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	252	0.0040	520	c.139 others(539): Show c.139-18616_139-18615insAGGGGGGCTGACCCCCCCCCACCTCC CTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCAGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCC CCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG TGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTG ACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PXDN_chr2_1626887_1749515	1706769	C C	CGAGAGCA others(513): Show CGAGAGCACGCTTCACTGTTCACCAATCAGCTCTAAGCATCACCTGCCCC ACTAATAATACAATCTGAGAGCACACTTCAGTGTTCACCAATCAGCTCTA AGCATCGCCTGCCCCACTAATAATACAATCTGAGAGCACGCTTCACTGTT CACCAATCAGCTCTAAGCATCACCTGCCCCACTAATAATACAATCCGAGA GCACGCTTCACTGTTCACCAATCAGCTCTAAGCATCACCTGCCCCACTAA TAATACAATCCGAGAGCACGCTTCACTGTTCACCAATCAGCTCTAAGCAT CACCTGCCCCACTAATAATACAATCCGAGAGCACGCTTCACTGTTCACCA ATCAGCTCTAAGCATCACCTGCCCCACTAATAATACAATCCGAGAGCACG CTTCAGTGTTCAGCGATCAGCTCTAAACATCACCTGCCCCACTAATAATA CAATCCGAGAGCACGCTTCACTGTTCACCAATCAGCTCTAAGCATCACCT GCCCCACTAATAATACAATCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01515.hp2 HG01884.hp2 others(6): Show HG01361.hp1 HG01515.hp2 HG01884.hp2 HG02145.hp1 HG02486.hp2 HG02818.hp2 HG03130.hp1 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0001c0013 a0001c0030 a0001c0044	a0001c0001t0015 a0001c0002t0003 a0001c0002t0032 others(5): Show a0001c0001t0015 a0001c0002t0003 a0001c0002t0032 a0001c0004t0004 a0001c0010t0008 a0001c0013t0002 a0001c0030t0001 a0001c0044t0025	a0001c0001t0015g0037 a0001c0002t0003g0051 a0001c0002t0032g0289 others(6): Show a0001c0001t0015g0037 a0001c0002t0003g0051 a0001c0002t0032g0289 a0001c0004t0004g0164 a0001c0004t0004g0306 a0001c0010t0008g0309 a0001c0013t0002g0307 a0001c0030t0001g0308 a0001c0044t0025g0210	9	322	0.0280	520	c.201 others(539): Show c.201-13636_201-13635insAGATTGTATTATTAGTGGGGCAGGTG ATGCTTAGAGCTGATTGGTGAACAGTGAAGCGTGCTCTCGGATTGTATTA TTAGTGGGGCAGGTGATGTTTAGAGCTGATCGCTGAACACTGAAGCGTGC TCTCGGATTGTATTATTAGTGGGGCAGGTGATGCTTAGAGCTGATTGGTG AACAGTGAAGCGTGCTCTCGGATTGTATTATTAGTGGGGCAGGTGATGCT TAGAGCTGATTGGTGAACAGTGAAGCGTGCTCTCGGATTGTATTATTAGT GGGGCAGGTGATGCTTAGAGCTGATTGGTGAACAGTGAAGCGTGCTCTCG GATTGTATTATTAGTGGGGCAGGTGATGCTTAGAGCTGATTGGTGAACAG TGAAGCGTGCTCTCAGATTGTATTATTAGTGGGGCAGGCGATGCTTAGAG CTGATTGGTGAACACTGAAGTGTGCTCTCAGATTGTATTATTAGTGGGGC AGGTGATGCTTAGAGCTGATTGGTGAACAGTGAAGCGTGCTCTC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1706769	C C	CGAGAGCA others(513): Show CGAGAGCACGCTTCACTGTTCACCAATCAGCTCTAAGCATCACCTGCCCC ACTAATAATACAATCTGAGAGCACACTTCAGTGTTCACCAATCAGCTCTA AGCATCGCCTGCCCCACTAATAATACAATCTGAGAGCACGCTTCACTGTT CACCAATCAGCTCTAAGCATCACCTGCCCCACTAATAATACAATCCGAGA GCACGCTTCACTGTTCACCAATCAGCTCTAAGCATCACCTGCCCCACTAA TAATACAATCCGAGAGCACGCTTCACTGTTCACCAATCAGCTCTAAGCAT CACCTGCCCCACTAATAATACAATCCGAGAGCATGCTTCACTGTTCACCA ATCAGCTCTAAGCATCACCTGCCCCACTAATAATACAATCTGAGAGCACG CTTCAGTGTTCAGCGATCAGCTCTAAACATCACCTGCCCCACTAATAATA CAATCCGAGAGCACGCTTCACTGTTCACCAATCAGCTCTAAGCATCACCT GCCCCACTAATAATACAATCT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02027.hp2 HG02080.hp1 others(9): Show HG00621.hp2 HG02027.hp2 HG02080.hp1 HG03491.hp2 HG03710.hp1 NA18941.hp2 NA18967.hp2 NA18980.hp1 NA18984.hp1 NA19074.hp1 NA19088.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0016 a0001c0040	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0002t0003 a0001c0003t0002 a0001c0008t0002 a0001c0016t0005 a0001c0040t0030	a0001c0001t0001g0186 a0001c0001t0002g0200 a0001c0001t0002g0294 others(9): Show a0001c0001t0001g0186 a0001c0001t0002g0200 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0003g0180 a0001c0001t0003g0196 a0001c0001t0009g0181 a0001c0002t0003g0296 a0001c0003t0002g0033 a0001c0008t0002g0298 a0001c0016t0005g0001 a0001c0040t0030g0088	12	322	0.0373	520	c.201 others(539): Show c.201-13636_201-13635insAGATTGTATTATTAGTGGGGCAGGTG ATGCTTAGAGCTGATTGGTGAACAGTGAAGCGTGCTCTCGGATTGTATTA TTAGTGGGGCAGGTGATGTTTAGAGCTGATCGCTGAACACTGAAGCGTGC TCTCAGATTGTATTATTAGTGGGGCAGGTGATGCTTAGAGCTGATTGGTG AACAGTGAAGCATGCTCTCGGATTGTATTATTAGTGGGGCAGGTGATGCT TAGAGCTGATTGGTGAACAGTGAAGCGTGCTCTCGGATTGTATTATTAGT GGGGCAGGTGATGCTTAGAGCTGATTGGTGAACAGTGAAGCGTGCTCTCG GATTGTATTATTAGTGGGGCAGGTGATGCTTAGAGCTGATTGGTGAACAG TGAAGCGTGCTCTCAGATTGTATTATTAGTGGGGCAGGCGATGCTTAGAG CTGATTGGTGAACACTGAAGTGTGCTCTCAGATTGTATTATTAGTGGGGC AGGTGATGCTTAGAGCTGATTGGTGAACAGTGAAGCGTGCTCTC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1707109	G G	GTGTTCAG others(513): Show GTGTTCAGCGATCAGCTCTAAACATCACCTGCCCCACTAATAATACAATC CGAGAGCACGCTTCACTGTTCACCAATCAGCTCTAAGCATCACCTGCCCC ACTAATAATACAATCTGAGAGCACACTTCAGTGTTCACCAATCAGCTCTA AGCATCGCCTGCCCCACTAATAATACAATCCGAGAGCACGCTTCACTGTT CACCAATCAGCTCTAAGCATCACCTGCCCCACTAATAATACAATCCGAGA GCACGCTTCACTGTTCACCAATCAGCTCTAAGCATCACCTGCCCCACTAA TAATACAATCTGAGAGCACACTTCAGTGTTCACCAATCAGCTCTAAGCAT CGCCTGCCCCACTAATAATACAATCCGAGAGCACGCTTCACTGTTCACCA ATCAGCTCTAAGCATCACCTGCCCCACTAATAATACAATCCGAGAGCACG CTTCACTGTTCACCAATCAGCTCTAAGCATCACCTGCCCCACTAATAATA CAATCCGAGAGCATGCTTCAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0005	1	322	0.0031	520	c.201 others(539): Show c.201-13976_201-13975insGTGAAGCATGCTCTCGGATTGTATTA TTAGTGGGGCAGGTGATGCTTAGAGCTGATTGGTGAACAGTGAAGCGTGC TCTCGGATTGTATTATTAGTGGGGCAGGTGATGCTTAGAGCTGATTGGTG AACAGTGAAGCGTGCTCTCGGATTGTATTATTAGTGGGGCAGGCGATGCT TAGAGCTGATTGGTGAACACTGAAGTGTGCTCTCAGATTGTATTATTAGT GGGGCAGGTGATGCTTAGAGCTGATTGGTGAACAGTGAAGCGTGCTCTCG GATTGTATTATTAGTGGGGCAGGTGATGCTTAGAGCTGATTGGTGAACAG TGAAGCGTGCTCTCGGATTGTATTATTAGTGGGGCAGGCGATGCTTAGAG CTGATTGGTGAACACTGAAGTGTGCTCTCAGATTGTATTATTAGTGGGGC AGGTGATGCTTAGAGCTGATTGGTGAACAGTGAAGCGTGCTCTCGGATTG TATTATTAGTGGGGCAGGTGATGTTTAGAGCTGATCGCTGAACA	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAB11FIP3_chr16_420649_528011	492460	G G	GGGAGACC others(513): Show GGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGGAGACCCGAGGCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGT CCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGG CCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGG AGACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCC GAGGCCGTCCAGGGCCCTCCC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	295	0.0034	520	c.126 others(539): Show c.1265+3462_1265+3463insAGACCCGAGGCCGCCCAGGGCCCTCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCC AGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGTCCAGGGCCC TCCCGGGAGACCCGAGGCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCG TCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGGAGACCCGAGGCCGTCCAGGGCCCTCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGGAGACCCGAGGCCGTCCAGGGCCCTCCCGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RFLNA_chr12_124290093_124321024	124320025	G G	GGATGACA others(513): Show GGATGACATCTTTCTTTGGGGGCAGGTGGGATGACCTCTTTCTTTGGGGG CGGGTGGGATGACCTCTTTCTTTGGGGGGAGGTGGGATGACCTCTTTCTT TGGGGGCGGGTGGGATGACCTCTTTCTTTGGGGGTGGGTGGGATGACATC TTTGGGGGCAGGTGGGATGACCTCTTTCTTTGGGGGCAGGTGGGATGACA TCTTTCTTTGGGGGCAGGTGGGATGACATCTTTCTTTGGGGGCAGGTGGG ATGACATCTTTCTTTGGGGGCAGGTGGGATGACCTCTTTCTTTGGGGGCG GGTGGGATGACCTCTTTCTTTGGGGGGAGGTGGGATGACCTCTTTCTTTG GGGGTGGGTGGGATGACATCTTTGGGGGCAGGTGGGATGACCTCTTTCTT TGGGGGTAGGTGGGATGACATCTTTGGGGGCAGTTGGGATGACCTCTTTC TTTGGGGGCGGGTGGGATGACCTCTTTCTTTGGGGGTAAGTGGGATGACC TCTTTGTTTGCGGGTAGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA19012.hp2 NA19079.hp2 others(1): Show NA18959.hp1 NA19012.hp2 NA19079.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0018 a0001c0001t0002g0028 a0001c0001t0002g0033 others(1): Show a0001c0001t0002g0018 a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0001t0004g0311	4	388	0.0103	520	c.55 others(531): Show c.5500_*5501insGATGACATCTTTCTTTGGGGGCAGGTGGGATGAC CTCTTTCTTTGGGGGCGGGTGGGATGACCTCTTTCTTTGGGGGGAGGTGG GATGACCTCTTTCTTTGGGGGCGGGTGGGATGACCTCTTTCTTTGGGGGT GGGTGGGATGACATCTTTGGGGGCAGGTGGGATGACCTCTTTCTTTGGGG GCAGGTGGGATGACATCTTTCTTTGGGGGCAGGTGGGATGACATCTTTCT TTGGGGGCAGGTGGGATGACATCTTTCTTTGGGGGCAGGTGGGATGACCT CTTTCTTTGGGGGCGGGTGGGATGACCTCTTTCTTTGGGGGGAGGTGGGA TGACCTCTTTCTTTGGGGGTGGGTGGGATGACATCTTTGGGGGCAGGTGG GATGACCTCTTTCTTTGGGGGTAGGTGGGATGACATCTTTGGGGGCAGTT GGGATGACCTCTTTCTTTGGGGGCGGGTGGGATGACCTCTTTCTTTGGGG GTAAGTGGGATGACCTCTTTGTTTGCGGGTAGGTGA	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding		4002		chr12	TogoVar
SEPTIN9_chr17_77276499_77505593	77485015	G G	GTGATTGT others(513): Show GTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGCGATGGTGG TGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTG ATGGTGATGGTGGTGATTGTGGTGGTGGTGATGTGGGTGGTGGTGGTGAT GTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGT GATTGTGGTGGTAGTGGTGGTGATGGTGATGATTGTGATGGTGGTGAAGG GGGTGATGGTGGTGATTGTGGTGTGGTAATGGTGATGGTGGTAAAGGGGT GATGGTGGTGATTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGG TGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGGTGATTGTGG TGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0050 a0002c0002t0050	a0002c0002t0050g0147 a0002c0002t0050g0147	1	150	0.0067	520	c.914 others(537): Show c.914-2395_914-2394insAAGGGGGTGATGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCG ATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGCG ATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGAT GGTGGTGATGGTGATGGTGGTGATTGTGGTGGTGGTGATGTGGGTGGTGG TGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGG TGATGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGATTGTGATGGTG GTGAAGGGGGTGATGGTGGTGATTGTGGTGTGGTAATGGTGATGGTGGTA AAGGGGTGATGGTGGTGATTGTGGTGATGTGGGTGGTGGTGGTGATGTGG GTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGGTG ATTGTGGTGGTAGTGGTGGTGATGGTGATGATTGTGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485015	G G	GTGATTGT others(513): Show GTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGCGATGGTGG TGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTG ATGGTGATGGTGGTGATTGTGGTGGTGGTGATGTGGGTGGTGGTGGTGAT GTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGT GATTGTGGTGGTAGTGGTGGTGATGGTGATGATTGTGATGGTGGTGAAGG GGGTGATGGTGGTGATTGTGGTGTGGTAATGGTGATGGTGGTAAAGGGGT GATGGTGGTGATTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGG TGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGGTGATTGTGG TGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0133 a0002c0002t0036g0133	1	158	0.0063	520	c.860 others(537): Show c.860-2395_860-2394insAAGGGGGTGATGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCG ATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGCG ATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGAT GGTGGTGATGGTGATGGTGGTGATTGTGGTGGTGGTGATGTGGGTGGTGG TGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGG TGATGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGATTGTGATGGTG GTGAAGGGGGTGATGGTGGTGATTGTGGTGTGGTAATGGTGATGGTGGTA AAGGGGTGATGGTGGTGATTGTGGTGATGTGGGTGGTGGTGGTGATGTGG GTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGGTG ATTGTGGTGGTAGTGGTGGTGATGGTGATGATTGTGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	T T	TAGCAGGG others(513): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC AGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0053 a0001c0007t0007g0053	1	380	0.0026	520	c.-32 others(537): Show c.-32-1637_-32-1636insGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACTGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44302843	G G	GGTGAGGA others(513): Show GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0240 a0001c0240	a0001c0240t0003 a0001c0240t0003	a0001c0240t0003g0280 a0001c0240t0003g0280	1	380	0.0026	520	c.-32 others(537): Show c.-32-1867_-32-1866insTGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCAC	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SLAIN1_chr13_77692687_77769229	77704317	T T	TATATATA others(513): Show TATATATACATGTTTTATATGTATATATATACATAGAAAATATATATACA TGTTTTATATGTATATATATACATAGAAAATATATGTACATATGTTTTAT ATGTATATATACATAGAAAATATATATACATGTTTTATATGTATATATAC ATAGAAAATATATGTACATATGTTTTATATGTATATATATACATAGAAAA TATATATACATATGTTTTATATGTATATATATACATAGAAAATATATGTA CATATGTTTTATATGTATATATATACATAGAAAATATATGTACATATGTT TTATATGTATATATATACATAGAAAATATATGTACATATGTTTTCTATGT ATATATACATAGAAAATATATGTACATATGTTTTATATGTATATATACAT AGAAAATATATGTACATATGTTTTATATGTATATATACATAGAAAATATA TATACATGTTTTATATGTATATATACATAGAAAATATATGTACATATGTT TTATATGTATATATATAGAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0222 a0001c0001t0005g0222	1	300	0.0033	520	c.626 others(537): Show c.626+5778_626+5779insATATATACATGTTTTATATGTATATATA TACATAGAAAATATATATACATGTTTTATATGTATATATATACATAGAAA ATATATGTACATATGTTTTATATGTATATATACATAGAAAATATATATAC ATGTTTTATATGTATATATACATAGAAAATATATGTACATATGTTTTATA TGTATATATATACATAGAAAATATATATACATATGTTTTATATGTATATA TATACATAGAAAATATATGTACATATGTTTTATATGTATATATATACATA GAAAATATATGTACATATGTTTTATATGTATATATATACATAGAAAATAT ATGTACATATGTTTTCTATGTATATATACATAGAAAATATATGTACATAT GTTTTATATGTATATATACATAGAAAATATATGTACATATGTTTTATATG TATATATACATAGAAAATATATATACATGTTTTATATGTATATATACATA GAAAATATATGTACATATGTTTTATATGTATATATATAGAAA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6			chr13	TogoVar
SLIT3_chr5_168656740_169306139	168755430	T T	TTATCTTT others(513): Show TTATCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TCTTCTTCTTTCTTTTCTTCTTTCTTTCTTTCTTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTTCTCTTCTTCTCTTCTTTCTCT CTCTATCTCTCTCTCTCTCTTCTCTCTCTCTCTCTCTCTCTTCTCTCTCT TTCTCTTCTTTCTTTCTTTCTCTTCTTTCTTTCTTTCTTTCTTTCTTCTC TTTCTCTTTCTCTTTCTTCTTTCTTTCTTTCTTCTTTCTTTCTTTTATCT TTCTTTCTTTTCTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0038 a0002c0002t0022g0038	1	132	0.0076	520	c.168 others(539): Show c.1686-1424_1686-1423insGAAAAGAAAGAAAAGAAAGAAAGATA AAAGAAAGAAAGAAGAAAGAAAGAAAGAAGAAAGAGAAAGAGAAAGAGAA GAAAGAAAGAAAGAAAGAAAGAAGAGAAAGAAAGAAAGAAGAGAAAGAGA GAGAAGAGAGAGAGAGAGAGAGAGAAGAGAGAGAGAGAGATAGAGAGAGA AAGAAGAGAAGAAGAGAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGACGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAAGAAAGAAAGAAAGAAGAAAAGAAAGAAGAAGAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGATA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	16/35			chr5	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(513): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATATTATAATATATAATATATAATATATTATAATATATAATA TATAATATATTATAATATATAATATATTATATATTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAAAATATATTAT ATTTTATAATATATAAAATATATTATATTTTATAATATATAATATATATT ATATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	340	0.0029	520	c.17 others(539): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATTTTATATATTATAAAATATAAT ATATTTTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATAT ATTATATATTATAAAATATAATATATTATATATTATAAAATATAATATAT TATATATTATAATATATAATATATTATATATTATAATATATTATATATTA TATATTATAATATATTATATATTATATATTATAATATATAATATATTATA TATTATAAAATATAATATATTATATATTATAAAATATAATATATTATATA TTATAAAATATAATATATTATATATTATAAAATATAATATATTATATATT ATAAAATATAATATATTATATATTATAAAATATAATATATATTATATATT ATAAAATATAATATATATTATATATTATAATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMOC2_chr6_168436184_168672992	168560832	A A	ATTCTTGG others(513): Show ATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACGTGAGGCTCTCACT GCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGATGTGAGGCT CTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACGTGA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACGT GAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTG AGACGTGAGGCTCTCACTGCG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0040 a0001c0002t0002g0041	2	180	0.0111	520	c.637 others(539): Show c.637+11664_637+11665insGTGAGGCTCTCACTGCGTTCTTGGAG GAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTC GGAGGAGGTGTCATTTTCCTGCCCTGAGATGTGAGGCTCTCACTGCGTTC TTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCAT TCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACGTGAGGCTCTCACTGC ATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACGTGAGGCTCTCACT GCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACGTGAGGCT CTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562293	T T	TGGAGGAG others(513): Show TGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATT CTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTG CATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCAC TGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTC ACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTC TCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGC TCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAG GCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACG AGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACA CGAGGCTCTGACTGCGTTTTC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	180	0.0056	520	c.637 others(539): Show c.637+13108_637+13109insATACCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGA GGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC GAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTGACTGCGTTTTCGGAGGAGGTGTCATTTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1099590	A A	AGTGAGGG others(513): Show AGTGAGGGCAGTGATGGTCAGGTCCTCTGAAGGTGGGTGTGGTGAGGGCA GCGATGGTCAGGTCCTCTAAAGGTGAGTGTGGTGAGGGCAGTGATGGTCA GGTCCTCTAAAGGTGAGTGTGGTGAGGGCAGTGATGGTCAGGTCCTCTGA AGGTGGGTGCGGTGAGGGCAGCGATGGTCAAGTCGTCTGAAGGTGGGTGC AGTGAGGGCAGTGATGGTCAGGTCCTCTAAAGGTGAGTGTGGTGAGGGCA GCGATGGTCAGGTCCTCTAAAGGTGAGTGTGGTGAGGGCAGTGATGGTCA GGTCCTCTGAAGGTGGGTGTGGTGAGGGCAGTGATGGTCAGGTCCTCTGA AGGTGGGTGTGGTGAGGGCAGCGATGGTTCGGTCCTCTGAAGGTGGGTGC CGTGAGGGCAGTGATGGTCAGGTCCTCTAAAGGTGAGTGTGGTGAGGGCA GTGATGGTCAGGTCCTCTGAAGGTGGGTGTGGTGAGGGCAGTGATGGTCA GGTCCTCTGAAGGTGGGTGTG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02717.hp1 HG02886.hp1 others(3): Show HG01169.hp2 HG02717.hp1 HG02886.hp1 HG02970.hp2 HG03540.hp2 HG03579.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0006 a0001c0002 a0005c0006	a0001c0002t0001 a0005c0006t0001 a0001c0002t0001 a0005c0006t0001	a0001c0002t0001g0084 a0005c0006t0001g0081 a0005c0006t0001g0082 others(3): Show a0001c0002t0001g0084 a0005c0006t0001g0081 a0005c0006t0001g0082 a0005c0006t0001g0083 a0005c0006t0001g0085 a0005c0006t0001g0086	6	190	0.0316	520	c.325 others(537): Show c.325+1218_325+1219insTGGTGAGGGCAGCGATGGTCAGGTCCTC TAAAGGTGAGTGTGGTGAGGGCAGTGATGGTCAGGTCCTCTAAAGGTGAG TGTGGTGAGGGCAGTGATGGTCAGGTCCTCTGAAGGTGGGTGCGGTGAGG GCAGCGATGGTCAAGTCGTCTGAAGGTGGGTGCAGTGAGGGCAGTGATGG TCAGGTCCTCTAAAGGTGAGTGTGGTGAGGGCAGCGATGGTCAGGTCCTC TAAAGGTGAGTGTGGTGAGGGCAGTGATGGTCAGGTCCTCTGAAGGTGGG TGTGGTGAGGGCAGTGATGGTCAGGTCCTCTGAAGGTGGGTGTGGTGAGG GCAGCGATGGTTCGGTCCTCTGAAGGTGGGTGCCGTGAGGGCAGTGATGG TCAGGTCCTCTAAAGGTGAGTGTGGTGAGGGCAGTGATGGTCAGGTCCTC TGAAGGTGGGTGTGGTGAGGGCAGTGATGGTCAGGTCCTCTGAAGGTGGG TGTGGTGAGGGCAGTGATGGTCAGGTCCTCTGAAGGTGGGTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX9_chr6_157818246_157950077	157827306	T T	TATATAAT others(513): Show TATATAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTA TATAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTATA TAATATATAAACATATAGTTTATATAATATATACACATATAGTTTATATA ATATATACACATATATTATAGTTTATATAATATATACACATATATTATAG TTTATATAATATATACACATATATTATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTCATATAATATATAAACATATATTATAGTTCATATAATATATAAACA TATATTATAGTTCATATAATATATAAACATATATTATAGTTCATATAATA TATAAACATATATTATAGTTC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	302	0.0033	520	c.12+ others(535): Show c.12+3880_12+3881insGTTTATATAATATATAAACATATAGTTTAT ATAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTATAT AATATATAAACATATAGTTTATATAATATATACACATATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATACACATAT ATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT ACACATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTCATATAATATATAAACATATATTATAGTTCATATAATATATAAACAT ATATTATAGTTCATATAATATATAAACATATATTATAGTTCATATAATAT ATAAACATATATTATAGTTCATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827319	A A	AACATGTA others(513): Show AACATGTATTATAGTTTATATAATATATAAACATGTATTATAGTTTATAT AATATATAAACATGTATTATAGTTTATATAATATATAAACATGTATTATA GTTTATATAATATATAAACATGTATTATAGTTTATATAATATATAAACAT GTATTATAGTTTATATAATATATAAACATGTATTATAGTTTATATAATAT ATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATA TAATATATACACATATATTATAGTTTATATAATATATACACATATATTAT AGTTTATATAATATATACACATATATTATAGTTTATATAATATATACACA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTT ATATAATATATACACATATATTATAGTTTATATAATATATACACATATAT TATAGTTTATATAATATATAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	302	0.0033	520	c.12+ others(535): Show c.12+3877_12+3878insGTATTATAGTTTATATAATATATAAACATG TATTATAGTTTATATAATATATAAACATGTATTATAGTTTATATAATATA TAAACATGTATTATAGTTTATATAATATATAAACATGTATTATAGTTTAT ATAATATATAAACATGTATTATAGTTTATATAATATATAAACATGTATTA TAGTTTATATAATATATAAAATATATTATAGTTTATATAATATATAAAAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACAT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar

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Search Results (Total: 10000 hits)