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
HELZ2_chr20_63553086_63579239	63571398	C C	CGGTGGGC others(605): Show CGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCT GTGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCC TACGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGC CTGTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTG CCTACAGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCT GCCTACGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTC TGCCTGTGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAACCTCTGGCT CTGCCTGTGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAACCTCTGGC TCTGCCTGTGGTGGGCTCCTGCCCCACTCCAAGCTCCTGGGAACCTCTGG CTCTGCCTACGGTGGGCTCCTGCCCTACTCCAAGCTCCTGGGAACCTCTG GCTCTGCCTGTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCT GGCTCTGCCTACGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAGCCTC TGGCTCTGCCTGT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0105 a0001c0061t0105	a0001c0061t0105g0177 a0001c0061t0105g0177	1	390	0.0026	612	c.279 others(627): Show c.279-531_279-530insACAGGCAGAGCCAGAGGCTCCCAGGAGCTT GGAGCAGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTCCCAGGAGCT TGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAGGAGC TTGGAGTAGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTCCCAGGAG CTTGGAGTGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAGGA GCTTGGAGCAGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAGG AGCTTGGAGCAGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGCTCCCAG GAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTCCCA GGAGCTTGGAGCGGGGCAGGAGCCCACTGTAGGCAGAGCCAGAGGCTCCC AGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGCTCC CAGGAGCTTGGAGCAGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTC CCAGGAGCTTGGAGCAGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGCT CCCAGGAGCTTGGAGCAGGGCAGGAGCCCACC	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571726	A A	AAGCTCCT others(605): Show AAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCTC CAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCT CCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCAC TCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCTA CTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCC GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCC TGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGC CCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCT GCCCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTC CTGCCCCGCTCCC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0022 a0022	a0022c0024 a0022c0024	a0022c0024t0004 a0022c0024t0004	a0022c0024t0004g0232 a0022c0024t0004g0232	1	390	0.0026	612	c.278 others(627): Show c.278+381_278+382insGGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCA GAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACCGTAG GCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACCGT AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCA CAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACC GTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCAC CACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCA CCACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGCCC ACCACAGGCAGAGCCAGAGGCTCCCAGGAGCT	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571874	G G	GCTCCAAG others(605): Show GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCC CGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGC CCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCT GCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTC CTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCT CCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGC TCCTGCCCCGCTCCCAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGG CTCCTGCCCCGCTCCCAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGG GCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTG GGCTCCTGCCCTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0073 a0073	a0073c0067 a0073c0067	a0073c0067t0003 a0073c0067t0003	a0073c0067t0003g0083 a0073c0067t0003g0083	1	390	0.0026	612	c.278 others(627): Show c.278+233_278+234insTAGGGCAGGAGCCCACCGTAGGCAGAGCCA GAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCC AGAGGTTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAGC CAGAGGCTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAG CCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCAGA GCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCA GAGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACAG GCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCAC AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571874	G G	GCTCCAAG others(605): Show GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCC CGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGC CCTACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCT GCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTC CTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCT CCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGC TCCTGCCCCGCTCCCAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGG CTCCTGCCCCGCTCCCAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGG GCTCCTGCCCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTG GGCTCCTGCCCTA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02723.hp2 HG02809.hp1 others(2): Show HG02559.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG03453.hp1	a0015 a0036 a0081 a0015 a0036 a0081	a0015c0113 a0015c0115 a0015c0133 others(2): Show a0015c0113 a0015c0115 a0015c0133 a0036c0042 a0081c0112	a0015c0113t0078 a0015c0115t0103 a0015c0133t0104 others(2): Show a0015c0113t0078 a0015c0115t0103 a0015c0133t0104 a0036c0042t0002 a0081c0112t0036	a0015c0113t0078g0156 a0015c0115t0103g0157 a0015c0133t0104g0158 others(2): Show a0015c0113t0078g0156 a0015c0115t0103g0157 a0015c0133t0104g0158 a0036c0042t0002g0155 a0081c0112t0036g0154	5	390	0.0128	612	c.278 others(627): Show c.278+233_278+234insTAGGGCAGGAGCCCACCGTAGGCAGAGCCA GAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACAGGCAGAGCC AGAGGTTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAGC CAGAGGCTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAG CCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCAGA GCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCA GAGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACCACAG GCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCAC AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571874	G G	GCTCCAAG others(605): Show GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCC CGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGC CCTACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCT GCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTC CTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCT CCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGC TCCTGCCCCGCTCCCAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGG CTCCTGCCCCGCTCCCAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGG GCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTG GGCTCCTGCCCTA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0061 a0061	a0061c0078 a0061c0078	a0061c0078t0081 a0061c0078t0081	a0061c0078t0081g0150 a0061c0078t0081g0150	1	390	0.0026	612	c.278 others(627): Show c.278+233_278+234insTAGGGCAGGAGCCCACCGTAGGCAGAGCCA GAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCC AGAGGTTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAGC CAGAGGCTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAG CCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCAGA GCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCA GAGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACCACAG GCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCAC AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571874	G G	GCTCCAAG others(605): Show GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCC CGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGC CCTACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCT GCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTC CTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCT CCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGC TCCTGCCCCGCTCCCAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGG CTCCTGCCCCGCTCCCAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGG GCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTG GGCTCCTGCCCTA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01243.hp1 HG01433.hp2 others(57): Show HG01175.hp2 HG01243.hp1 HG01433.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp2 HG02300.hp1 HG02602.hp1 HG02683.hp2 HG03017.hp2 HG03239.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18954.hp1 NA18959.hp1 NA18960.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18990.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19009.hp2 NA19012.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp2 NA19067.hp1 NA19070.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp2	a0001 a0003 a0006 others(11): Show a0001 a0003 a0006 a0038 a0050 a0052 a0058 a0063 a0064 a0066 a0070 a0074 a0075 a0093	a0001c0001 a0001c0022 a0001c0063 others(17): Show a0001c0001 a0001c0022 a0001c0063 a0001c0083 a0001c0110 a0003c0013 a0006c0009 a0006c0050 a0006c0051 a0038c0111 a0050c0080 a0052c0069 a0058c0131 a0063c0065 a0064c0052 a0066c0057 a0070c0058 a0074c0053 a0075c0066 a0093c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0083 a0001c0001t0085 a0001c0001t0089 a0001c0001t0102 a0001c0001t0109 a0001c0022t0038 a0001c0022t0095 a0001c0063t0009 a0001c0083t0093 a0001c0110t0009 a0003c0013t0019 a0006c0009t0001 a0006c0009t0002 a0006c0009t0003 a0006c0050t0004 a0006c0051t0002 a0038c0111t0008 a0050c0080t0012 a0052c0069t0010 a0058c0131t0038 a0063c0065t0072 a0064c0052t0080 a0066c0057t0002 a0070c0058t0002 a0074c0053t0002 a0075c0066t0003 a0093c0041t0004	a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0002g0128 others(48): Show a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0002g0128 a0001c0001t0002g0135 a0001c0001t0002g0143 a0001c0001t0003g0014 a0001c0001t0003g0045 a0001c0001t0003g0146 a0001c0001t0004g0002 a0001c0001t0004g0012 a0001c0001t0008g0013 a0001c0001t0008g0115 a0001c0001t0008g0129 a0001c0001t0009g0003 a0001c0001t0009g0119 a0001c0001t0009g0131 a0001c0001t0010g0047 a0001c0001t0012g0127 a0001c0001t0012g0148 a0001c0001t0014g0126 a0001c0001t0014g0145 a0001c0001t0014g0147 a0001c0001t0083g0144 a0001c0001t0085g0133 a0001c0001t0089g0134 a0001c0001t0102g0130 a0001c0001t0109g0261 a0001c0022t0038g0046 a0001c0022t0095g0136 a0001c0063t0009g0137 a0001c0083t0093g0142 a0001c0110t0009g0140 a0003c0013t0019g0011 a0003c0013t0019g0039 a0006c0009t0001g0048 a0006c0009t0002g0015 a0006c0009t0002g0149 a0006c0009t0003g0049 a0006c0050t0004g0120 a0006c0051t0002g0121 a0038c0111t0008g0141 a0050c0080t0012g0139 a0052c0069t0010g0050 a0058c0131t0038g0117 a0063c0065t0072g0138 a0064c0052t0080g0044 a0066c0057t0002g0123 a0070c0058t0002g0124 a0074c0053t0002g0122 a0075c0066t0003g0116 a0093c0041t0004g0118	60	390	0.1539	612	c.278 others(627): Show c.278+233_278+234insTAGGGCAGGAGCCCACCGTAGGCAGAGCCA GAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCC AGAGGTTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAGC CAGAGGCTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAG CCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCAGA GCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCA GAGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACCACAG GCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCAC AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571874	G G	GCTCCAAG others(605): Show GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCC CGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGC CCTACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTACGGTGGGCTCCT GCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTC CTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCT CCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGC TCCTGCCCCGCTCCCAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGG CTCCTGCCCCGCTCCCAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGG GCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTG GGCTCCTGCCCTA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0051	1	390	0.0026	612	c.278 others(627): Show c.278+233_278+234insTAGGGCAGGAGCCCACCGTAGGCAGAGCCA GAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCC AGAGGTTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAGC CAGAGGCTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAG CCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCAGA GCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCAG AGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCA GAGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGC AGAGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACCACAG GCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCAC AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571874	G G	GCTCCAAG others(605): Show GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCC CGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGC CCTACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCT GCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTC CTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCT CCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGC TCCTGCCCCGCTCCCAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGG CTCCTGCCCCGCTCCCAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGG GCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTG GGCTCCTGCCCTA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	390	0.0026	612	c.278 others(627): Show c.278+233_278+234insTAGGGCAGGAGCCCACCGTAGGCAGAGCCA GAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCC AGAGGTTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAGC CAGAGGCTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAG CCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCAGA GCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCA GAGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACCACAG GCAGAGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCAC AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HS3ST6_chr16_1906475_1923415	1920291	C C	CAATCTCA others(605): Show CAATCTCAGCTGTCCCCACGGTCTCAGGAGTCCCCACAGTCTCAGCTATC CCCATGGTCTCAGCCATCCCCGTGGTCTCAGCAGTCCCCACGGTCTCAGC CGTCCCCACGGTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACGGTCT CAGGAGTCCCCACGGACTCAGCCGTCCCCAGGGTCTCAGCCATCCCCAGG GTCTCAGCCGTCCCCACGGTCCCAGCCGTCCCCACCGTCTCAGCAGTCCC CACGGTCTCAGCCGTCCCCATGGTCTCAGCAGTCCCCACGGTCTCAGGAG TCCCCACGGTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACCGTCTCA GGAGTCCCCACCATCTCAGCCGTCCCCACGGTCTCAGGAGTCCCCATGGT CTCAACCGTCTCCACGGTCTCAGGAGTCCCCACGGTCTCAGGAGCCCCCA CGGTCTCAGGAGCCCCCACGGTCTCAGTCATCCCCACGGTCCCAGCCGTC CCCACGGTCCAAGCCGTCCCCACGGTCCCAGCCGTCCCCACGGTCTCAGC CGTCCCCACGGTCTCCGCAGTCCCCACGGTCTCAGCCATCCCCACGGTCT CAGGAGTCCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	433	0.0023	612	c.-19 others(623): Show c.-1969_-1968insATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTTGGACCGTGGGGACGGCTGGGACCGTGGGGAT GACTGAGACCGTGGGGGCTCCTGAGACCGTGGGGGCTCCTGAGACCGTGG GGACTCCTGAGACCGTGGAGACGGTTGAGACCATGGGGACTCCTGAGACC GTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACGGTGGGGACGGCTGA GACCGTGGGGACTGCTGAGACCGTGGGGACTCCTGAGACCGTGGGGACTG CTGAGACCATGGGGACGGCTGAGACCGTGGGGACTGCTGAGACGGTGGGG ACGGCTGGGACCGTGGGGACGGCTGAGACCCTGGGGATGGCTGAGACCCT GGGGACGGCTGAGTCCGTGGGGACTCCTGAGACCGTGGGGACGGCTGAGA CCGTGGGGACTGCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTGCT GAGACCACGGGGATGGCTGAGACCATGGGGATAGCTGAGACTGTGGGGAC TCCTGAGACCGTGGGGACAGCTGAGATT	HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding		1877		chr16	TogoVar
HS3ST6_chr16_1906475_1923415	1920291	C C	CAATCTCA others(605): Show CAATCTCAGCTGTCCCCACGGTCTCAGGAGTCCCCACAGTCTCAGCTATC CCCATGGTCTCAGCCATCCCCGTGGTCTCAGCAGTCCCCATGGTCTCAGG AGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGCAGTCCCCACGGTCT CAGCCGTCCCCACGGTCTCAGGAGTCCCCACGGACTCAGCCGTCCCCAGG GTCTCAGCCATCCCCAGGGTCTCAGCCGTCCCCACGGTCCCAGCCGTCCC CACCGTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCATGGTCTCAGCAG TCCCCACGGTCTCAGGAGTCCCCACGGTCTCAGCAGTCCCCACGGTCTCA GCCGTCCCCACCGTCTCAGGAGTCCCCACCATCTCAGCCGTCCCCACGGT CTCAGGAGTCCCCATGGTCTCAACCGTCTCCACGGTCTCAGGAGTCCCCA CGGTCTCAGTCATCCCCACGGTCCCAGCCGTCCCCACGGTCCAAGCCGTC CCCACGGTCCAAGCCGTCCCCACGGTCCCAGCCGTCCCCACGGTCTCAGC CGTCCCCACGGTCTCCGCAGTCCCCACGGTCTCAGCCATCCCCACGGTCT CAGGAGTCCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0048 a0008c0011t0001g0048	1	433	0.0023	612	c.-19 others(623): Show c.-1969_-1968insATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTTGGACCGTGGGGACGGCTTGGACCGTGGGGAC GGCTGGGACCGTGGGGATGACTGAGACCGTGGGGACTCCTGAGACCGTGG AGACGGTTGAGACCATGGGGACTCCTGAGACCGTGGGGACGGCTGAGATG GTGGGGACTCCTGAGACGGTGGGGACGGCTGAGACCGTGGGGACTGCTGA GACCGTGGGGACTCCTGAGACCGTGGGGACTGCTGAGACCATGGGGACGG CTGAGACCGTGGGGACTGCTGAGACGGTGGGGACGGCTGGGACCGTGGGG ACGGCTGAGACCCTGGGGATGGCTGAGACCCTGGGGACGGCTGAGTCCGT GGGGACTCCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTGCTGAGA CCGTGGGGACGGCTGAGACCGTGGGGACTCCTGAGACCATGGGGACTGCT GAGACCACGGGGATGGCTGAGACCATGGGGATAGCTGAGACTGTGGGGAC TCCTGAGACCGTGGGGACAGCTGAGATT	HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding		1877		chr16	TogoVar
IL17REL_chr22_49986811_50017765	50009894	T T	TGGCGGCA others(605): Show TGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGT GACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGG TGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGG CAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCT CAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGA ATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCA GTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCT GGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGC GGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACC CTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTG GAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGT CAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGT CTGGTGTGGAATC	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA19030.hp1 HG04184.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0002c0002t0003 a0001c0001t0010 a0002c0002t0003	a0001c0001t0010g0313 a0002c0002t0003g0117 a0001c0001t0010g0313 a0002c0002t0003g0117	2	440	0.0046	612	c.103 others(629): Show c.103-1231_103-1230insGATTCCACACCAGACTGAGGGTCACTGA CTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCC ACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGG GTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCG CCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCA GACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACT GACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATT CCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGA GGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGC CGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACAC CAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCA CTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGA TTCCACACCAGACTGAGGGTCACTGACTGCCGCC	IL17REL	ENSG00000188263.11	transcript	ENST00000695950.1	protein_coding	1/14			chr22	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406062	T T	TCTTCCTC others(605): Show TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTG ACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCC TCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCG TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0155 a0001c0001t0155	a0001c0001t0155g0117 a0001c0001t0155g0117	1	276	0.0036	612	c.77 others(621): Show c.771_*772insCCTAGATGTCACAGAGGTCCACTCAGTGACAAACAC ACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGAC AAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTC AGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGT CCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCAC AGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGA TGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAG ACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTG AGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAA GGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACAC ACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACAC ACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGAC AAACACACACTGAAGGCCTGAGGAAG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	771		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406062	T T	TCTTCCTC others(605): Show TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAG TGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCC TCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAG GCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0056 a0001c0001t0056g0056	1	276	0.0036	612	c.77 others(621): Show c.771_*772insCCTAGATGTCACAGAGGTCCACTCAGTGACAAACAC ACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGAC AAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGTCCACTC AGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGT CCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCAC AGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGA TGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAG ACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTG AGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACACACACTGAAGGCC TGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTG AAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACAC ACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGAC AAACACACACTGAAGGCCTGAGGAAG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	771		chr2	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(605): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTC ACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 NA18962.hp2 NA18977.hp2 HG01361.hp2 NA18962.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0059 a0001c0001t0003g0002 a0001c0001t0003g0059	3	370	0.0081	612	c.-27 others(623): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(605): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTC ACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02135.hp2 NA18962.hp1 others(9): Show HG02040.hp1 HG02135.hp2 NA18962.hp1 NA18968.hp2 NA18973.hp1 NA18975.hp2 NA18984.hp1 NA18986.hp1 NA18998.hp2 NA19058.hp1 NA19066.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0002 a0001c0001t0005g0005 a0001c0001t0005g0047 a0001c0001t0003g0002 a0001c0001t0005g0005 a0001c0001t0005g0047	12	370	0.0324	612	c.-27 others(623): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(605): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTC ACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18953.hp2 NA19004.hp2 others(1): Show NA18948.hp2 NA18953.hp2 NA19004.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	4	370	0.0108	612	c.-27 others(623): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(605): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCTCCTCTCCCTCTCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCCCTCCTCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTC ACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0052 a0001c0001t0016g0052	1	370	0.0027	612	c.-27 others(623): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGAGAGGGAGAGGAGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGGTG others(605): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGT GGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGT GTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCA CGGGACGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCG GGATGGGTGTGCA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0096 a0002c0017t0001g0096	1	294	0.0034	612	c.153 others(631): Show c.1530-3001_1530-3000insTGCACACCCATCCCGAGACACCACTG CACACCCATCCCGAGACACCACTGCACACCCGTCCCGTGACACCACGCAC ACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACGCACACCC GTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACGCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCC GAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGA CACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCAC TCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACA CCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACC CGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTC CCGTGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGGTG others(605): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTG TCTCGGGATGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCG GGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCACGGG ATGGGTGTGCAGTGATGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCA GTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0102 a0001c0003t0001g0102	1	294	0.0034	612	c.153 others(631): Show c.1530-3001_1530-3000insTCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACAC CCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCG TCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCC CGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGA GACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTGCACACCCATCCCGAGACATCACTGCACACCCATCCCGTGACACCAC TGCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTG CACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCA CACCCGTCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACC CATCCCGTGACACCACTCACACCCATCCCGTGACACCACTCACACCCGTC CCGAGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	953985	A A	ACACCCAC others(605): Show ACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCA CACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCT ACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTTCACAC AGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCC CAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTC CTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCAC ACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCAC CCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCC TCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCC ACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCC ACCCCAAACCAGCCTCCTACACGTCCACACAGACACACACCCCACACCAG CCTCCTACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACACGT CCACACAGACACC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	294	0.0034	612	c.503 others(627): Show c.503+371_503+372insGGTGTCTGTGTGGACGTGTAGGAAGCTGGT GTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGTGTG TCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACG TGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTG GTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGG TGTCTGTGTGGACATGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGA CGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGC TGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTG GGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTG GACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGAACGTGTAGGAG GCTGGTTTGGGGTGGGTGTCTGTGTGGACATGTAGGAGGCTGGTTTGGGG TGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTG TGGACGTGTAGGAGGCTGGTTTGGGGTGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRP8_chr1_53237364_53333070	53284196	T T	TACTTACC others(605): Show TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCC GGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	296	0.0034	612	c.368 others(629): Show c.368-3482_368-3481insGGCCCGGGTATGTAGTAGGTAAGTAAGC GGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAA GTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGT AGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTA TGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCC CGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAA GCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGT AAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTA GTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGG TATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGG CCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGT AAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAG GTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGT	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364368	T T	TACACCCA others(605): Show TACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACA CTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCA CACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACC CTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCA CCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACC CACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACA CCCACCTTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCA CACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACT TACACCCACCCTTACATCTACCTCCACACCCACACTCACACTCACCCTTA CATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCT TACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACC CTTACATCTACCTCCACACCCACACTCACACCCACGCTTACATCTACCTC CACACCCACACTC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0254 a0001c0002t0004g0254	1	290	0.0035	612	c.129 others(631): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC ACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACCTTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAC TCACACTCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC GCTTACATCTACCTCCACACCCACACTCACACCCAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MEGF6_chr1_3482951_3616508	3583360	G G	GCAGCCAC others(605): Show GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGA CAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCACAGCC ACCAGACAACCCA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02109.hp1 HG00738.hp2 HG02109.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0192 a0003c0003t0001g0208 a0001c0001t0001g0192 a0003c0003t0001g0208	2	292	0.0069	612	c.377 others(629): Show c.377-3432_377-3431insTGGGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583684	G G	GCAGCCAC others(605): Show GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCC ACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCACAG CCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCC ACCAGACAACGCA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0054 a0006c0006t0001g0054	1	292	0.0034	612	c.377 others(629): Show c.377-3756_377-3755insTGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGCGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MERTK_chr2_111893607_112034561	111944498	A A	AATTCCTT others(605): Show AATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG02486.hp2 others(16): Show HG01243.hp2 HG02145.hp1 HG02486.hp2 HG02717.hp1 HG02896.hp1 HG03139.hp2 HG03540.hp1 NA18906.hp2 NA18942.hp2 NA18951.hp2 NA18984.hp2 NA18995.hp1 NA18997.hp1 NA19009.hp2 NA19066.hp1 NA19066.hp2 NA19081.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0010 a0001c0001 a0002c0002 a0005c0010	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0005c0010t0001	a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0101 others(16): Show a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0201 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0284 a0002c0002t0001g0269 a0002c0002t0001g0281 a0002c0002t0002g0231 a0002c0002t0002g0249 a0002c0002t0002g0265 a0002c0002t0002g0278 a0002c0002t0002g0283 a0005c0010t0001g0286	19	288	0.0660	612	c.483 others(627): Show c.483-427_483-426insTTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATT CCTTAAAATAATTCCTCTGTTTTAAGGAATTA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
MEX3D_chr19_1549672_1573325	1550015	C C	CCTGTTCA others(605): Show CCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CACCAACCCTCCCATCCATCCACCCATCCATCCACCTGTCCACCCATCCA CCCATTCATCCACCCACCCACCCATCCATCCATCCATCCACCCATCCATT CACTCACCTGCCCATCCACCCATCCATTCACTCACCTGCCCATCCACCCA TCCATGCACTCACCTGCCTATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAATCATCCACCCACCCATCCATCCATCCATCCA ACCATCCACCCACTCATCTATCCATCCATCCATCCATCCATCCATCCATT TACCCACCCTCTCATCCATCCACCCACCCATCCACTTGTCCACCCATCCA CCTGTTCACCCATCCACCCATCCATCCATCCATCCAACCATCCACCCATC TATCCATCCATCCATCCAACCACTCATCCGTCCATCCATCCATCCATCCA TCCATTTACCCACTCTCCCATCCACCCACCCATCGACTTGTCCACCCATA CACCTGTTCACCCATCCACCCATCCATCCATCCATCCATCCAACCATCCA CCCATCCATCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02647.hp1 HG02257.hp1 HG02258.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0183 a0001c0001t0003g0023 a0001c0001t0003g0183	3	372	0.0081	612	c.55 others(623): Show c.5547_*5548insATGGATGGATGGGTGGATGGTTGGATGGATGGAT GGATGGATGGGTGGATGGGTGAACAGGTGTATGGGTGGACAAGTCGATGG GTGGGTGGATGGGAGAGTGGGTAAATGGATGGATGGATGGATGGATGGAC GGATGAGTGGTTGGATGGATGGATGGATAGATGGGTGGATGGTTGGATGG ATGGATGGATGGGTGGATGGGTGAACAGGTGGATGGGTGGACAAGTGGAT GGGTGGGTGGATGGATGAGAGGGTGGGTAAATGGATGGATGGATGGATGG ATGGATGGATAGATGAGTGGGTGGATGGTTGGATGGATGGATGGATGGGT GGGTGGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATAGGCAGGTGAGTGCATGGATGGGTGGATGGGCAGGTGAGT GAATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGATGG ATGGATGGGTGGGTGGGTGGATGAATGGGTGGATGGGTGGACAGGTGGAT GGATGGGTGGATGGATGGGAGGGTTGGTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGAACAG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4656		chr19	TogoVar
MICAL3_chr22_17782649_18029561	17876784	G G	GGGAGGTT others(605): Show GGGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAG ATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAG GGAGGTTAAGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGG TTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATG GCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGT TAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAGCTTATGG AGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTT AGGGAGGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGA GGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTA GGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAG ATTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGG TGAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0151 a0004c0007t0003g0151	1	274	0.0037	612	c.224 others(631): Show c.2242-4762_2242-4761insATAACCTCCCTCACCTCCCTAACCTC CATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCATAACTTCCCTAACCTCCATAATCTCCCTAACCTCC ATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAAC CTCCATAAGCTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCC TAACCTCCATAACTGCCATAACCTCCATAACCTCCCTAACCTCCCTAACC TCCATAACTTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCT AACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAACCT CCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCATA ACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCTTAACCTC CCTAACCTCCATAAGCTCCCTAACCTCCTTAACCTCCCTAACCTCCATAA GCTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCC ATAACTGCCATAACCTCCATAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876901	G G	GGGAGGTT others(605): Show GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGAGAA GTTATGGAGGTTAGGGAGGTTATGAAGGTTAGGGAGGTTACGGAGGTTAT GGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGG TTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATG GAGGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGT TATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGG AGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTG AGGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGA GGTTAGGGAGGTTATGGAGGTTAGAGAAGTTATGGAGGTTAGGGAGGTTA TGAAGGTTAGGGAGGTTACGGAGGTTATGGAGGTTAGGGAAGTTATGGAG GTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAT GGCAGTTATGGAGGTTAGGGAGATTATGGAGGTTATGGAGGTTATGGAGG TGAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0017 a0010c0018t0001g0017	1	274	0.0037	612	c.224 others(631): Show c.2242-4879_2242-4878insATAACCTCCCTCACCTCCATAACCTC CATAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCATAA CTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCATAACTTCC CTAACCTCCATAACCTCCGTAACCTCCCTAACCTTCATAACCTCCCTAAC CTCCATAACTTCTCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCA TAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACC TCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCT CCATAACCTCCCTCACCTCCATAACCTCCATAACCTCCATAATCTCCCTA ACCTCCATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCTAACCTC CCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCGTAA CCTCCCTAACCTTCATAACCTCCCTAACCTCCATAACTTCTCTAACCTCC ATAACCTCCCTAACCTCCCTAACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877045	T T	TGGAGGTT others(605): Show TGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAG GTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTATGGAAGTTAGGGAGGTTAGGGAGGTGAGG GAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGT TAGGGAGGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGG AGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTG AGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGA GGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTA GGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTGAGGGAG GTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAG GGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGG TTATGGAGGTGAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0069 a0002c0003t0002g0069	1	274	0.0037	612	c.224 others(631): Show c.2242-5023_2242-5022insCTCACCTCCATAACCTCCCTAACCTC CATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAA CCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACCTCCCTCACCTCC ATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAAC CTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCA TAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACC TCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACCTCCCTCACCTCCATAACCTCCATAACCTCCCTAACCTCCATAACCT CCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTA ACCTCCCTAACTTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTC CATAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAA CCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCC CTAACCTCCATAACCTCCCTAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877099	G G	GGGAAGTT others(605): Show GGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAAGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGT TAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGG AAGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGA GGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGA GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAG GTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAG GGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAAGTTAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0034 a0034	a0034c0064 a0034c0064	a0034c0064t0001 a0034c0064t0001	a0034c0064t0001g0052 a0034c0064t0001g0052	1	274	0.0037	612	c.224 others(631): Show c.2242-5077_2242-5076insATAACTTCCCTAACCTCCATAACCTC CCTAACCTCCATAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTCACCTCC CTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAAC CTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCA TAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACC TCCCTAACCTCCATAACCTCCCTCACCTCCATAACTTCCCTAACCTCCAT AACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCATAACCT CCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATA ACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTC CCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAA CCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCC CTAACCTCCATAATCTCCCTAACCTCCATAACTTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877191	G G	GAGGTTAG others(605): Show GAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGCTTATGGAGGTTAGGG AGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTT ATGGAGGTTAGAGAAGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGA GGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGCTTA TGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGCTTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAG GGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAG TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGG GAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGT TAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGG AGGTTAGGGAGGTTAGGGAGCTTATGGAGGTTAGAGAAGTTATGGAGGTT AGGGAGGTTATGA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0178	1	274	0.0037	612	c.224 others(631): Show c.2242-5169_2242-5168insTCATAACCTCCCTAACCTCCATAACT TCTCTAACCTCCATAAGCTCCCTAACCTCCCTAACCTCCATAACTTCCCT AACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCT CCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATA ACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTC CCTAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAGCTCC CTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAGCTCCCTAAC CTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCC TAACCTCCCTAACCTCCATAACTTCTCTAACCTCCATAACCTCCCTAACC TCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTCCCTAACCTCCAT AAGCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCT CCATAACCTCCCTAACCTCCCTAACCTCCCTAACCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MRPS9_chr2_105033069_105104960	105055529	C C	CGCATTTT others(605): Show CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGACCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTA AATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGACCC CTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGC CCCTTTTGGTATT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18967.hp2 NA18747.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0213 a0001c0001t0001g0182 a0001c0001t0001g0213	2	394	0.0051	612	c.315 others(629): Show c.315+6214_315+6215insCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGACCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGACCCCTTTTGGTATCGCATTTTATTA AATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCC CTTTTGGTATCGCATTTTATTAAATATAGCGGACCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGC CCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTG CATTTTATTAAATATAGCGGGCCCCTTTTGGTAT	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(605): Show TGGGAGGTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC GGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTC GGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC GGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTC GGCCCTCCTGCCCTGCCAGCCGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCAGGATGGAGGTGGGGGGGGGGTCAGTCCCCCCGCCCGGCC AGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCCGCCTGGCC AGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCACGTCC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	256	0.0039	612	c.241 others(631): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGG GACTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GACTGACCCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCGGCTGGCAGGGCAGGAGGGCCGACCCCCCCACAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCT CCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(605): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATTCATATATAT ATTCATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0271 a0002c0002t0002g0271	1	364	0.0028	612	c.394 others(627): Show c.394-573_394-572insGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATGTTCATATATATATTCATATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(605): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATGTATATATTCATATATATGTTCATGTATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATGT TCATATATATATT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0185 a0002c0002t0002g0185	1	364	0.0028	612	c.394 others(627): Show c.394-573_394-572insGTTCATGTATATTCATATATATATGTTCAT GTATATATTCATATATATGTTCATGTATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATATTCATATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MYDGF_chr19_4652545_4675342	4663565	C C	CCCTCATT others(605): Show CCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCAT TCTACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAG CCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACACAGCCTCC AATCTACCCTCCCCACCCACCCCATCCTCATTCTACACAGCCTCCAATCT ACCCTCCCCACCCACCCCATCCTCATTCTACACAGCCTCCAATCTACCCT CCCCACCCCATCCTCATTCTACAGCCTCCAACCTGTGCACTCTCCACCCA CCCCATCCTCATTCTACACAGCCTCCAATCTATCCTCCCCACCCACCCCA CCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCAT TCTACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAG CCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAA TCTACCCTCCCCACCCACCCCATCCTCATTCTACACAGCCTCCAATCTAC CCTCCCCACCCACCCCATCCTCATTCTACACAGCCTCCAATCTACCCTCC CCACCCACCCCAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	410	0.0024	612	c.287 others(629): Show c.287+1310_287+1311insATGGGGTGGGTGGGGAGGGTAGATTGGA GGCTGTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTG TGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAA TGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGAT GGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGGTGG GTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGGTGGGGTGGGTGGGGA GGATAGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGTGGAGAGTGCA CAGGTTGGAGGCTGTAGAATGAGGATGGGGTGGGGAGGGTAGATTGGAGG CTGTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTG TAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAA TGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGAT GGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGGTGG GTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(605): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATGTAT GTATACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACA GTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGT ATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACTGTGTATGCAGTATGTATACAG TATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTAT GTATACTGTATATATACACTATACAGTATGTATACTGTATATATACACTA TACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATATA CACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATA TACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATA TATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	362	0.0028	612	c.-75 others(631): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATA CAGTATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAG TATGTATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACT GCATACACAGTATACATACTGTGTATATATACGGTATACATACTGTGTAT ATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACATACAGTATACATACATACAGTATACATACATACAGTAT ACATGCTGTACACAGTATACATGCTGTACACAGTATACATGCTGTACACA GTATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NPDC1_chr9_137034463_137051177	137050042	G G	GCCGCCAC others(605): Show GCCGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGTTCCCAGCCACCCGC CTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAG CCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCC CTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAA GTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCC GCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCC ACGACAAAGTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	402	0.0025	612	c.-40 others(623): Show c.-4054_-4053insGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAA CTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA GGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTG GCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGT CGCGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACA GGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCGGGTGGCTGGG AACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGG TAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGG TGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAACTTT GTCGTGAGTAGGGGCAGGCGGGTGGCGG	NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding		3866		chr9	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(605): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATA GTTTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATA GTTTAAAACTATATAGTTTATATAGTTTAAACTATATAGTTTATATAGTT TTAAACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATATA GTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTTT TAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTA TGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAG TTTTAAACTACGTAGTTTTAAACTATATAGTTTTAAACTACGTAGTTTTA AACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTA CGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTTAAA ACTATATAGTTTATGTAGTTTTAAACTAGTTTATATTTTTTTATATAGTT TAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0237 a0001c0005t0001g0237	1	244	0.0041	612	c.342 others(631): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACGTAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACGTAG TTTAAAACTATATAGTTTAAAACTACGTAGTTTAAAACTATATAGTTTAA AACTACATAGTTTAAAACTATATAGTTTAAAACTACATAAACTATATAGT TTAAAACTACATAAACTATATAGTTTAAACTAGTTTAAAACTATATATAA ACTAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTAAA CTATATAGTTTAAAACTATATAAACTATATAGTTTAAAACTATATAAACT ATATAGTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTATA TAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATATATAAACTA TATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATATATAAAC TATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TTCCTCTC others(605): Show TTCCTCTCCCTCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCTCTCC TCTCCTCTCCTCTCCTCTCCCTCTCCTCTCCTCTCCTCTCCTCCTCCCTC TCCTCTCCTCTCATCTCCTCCTCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCTCTCCTTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCATCCTCTCCTCT CCTCATCCTCTCCTCTCCTCTCCTCTCCTCCTCCTCCTCTCCTATCCTCT CCTCTCCTCCTCTCCTCCTCCTCTCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCCTCCCTCTCCCCTCCCTCTCCTCCCCTCCCCTCCCACC CTCCCCCCCTCCCCTTCCCCTCCCTCCCCTCCCTCCCCTCCCCCTTCCCC TCCCCTCCCCTCCCCCTTCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCT CCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCC CTCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCC TCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCCTTCCCCTTCCCTCT CCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0149 a0001c0001t0034g0149	1	326	0.0031	612	c.433 others(629): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAGAGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGAGGGGGAGGGGAGGGGA AGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGG GAAGGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAAGGGGGAGGG GAGGGAGGGGAGGGAGGGGAAGGGGAGGGGGGGAGGGTGGGAGGGGAGGG GAGGAGAGGGAGGGGAGAGGGAGGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGAGAGGAGGAGGAGAGGAGGAGAGGAGAGGATAGGAGAGG AGGAGGAGGAGAGGAGAGGAGAGGAGAGGATGAGGAGAGGAGAGGATGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAAGGAGAGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGAGGAGGAGATGAGAGGAGAGGAGAGGGAGGAGGAGAG GAGAGGAGAGGAGAGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGAGGGAGAGGA	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	841603	C C	CGACCACG others(605): Show CGACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGC ATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACCCA CAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCA CCCTGACCACAGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACA GCGCATCTCACGCCGGCGAGCAGGTCCACCCTGACCATGGCACATCTCAC GCCGGTGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGGGCAG GTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACC ACGGCGCATCTCACACAGGCGAGCAGGTCCCCCCGACCACGGCGCATCTC ACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGC AGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGA CCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCATC TCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGA GCAGGTCCTCCCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	242	0.0041	612	c.361 others(631): Show c.361-15526_361-15525insAGGGAGGACCTGCTCGCCCGTGTGAG ATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGT CGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTG CTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTG AGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTG GTCGGGGGGACCTGCTCGCCTGTGTGAGATGCGCCGTGGTCGGGGGGACC TGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTG TGAGATGCGCCGTGGTCGGGGGGACCTGCTCACCGGCGTGAGATGTGCCA TGGTCAGGGTGGACCTGCTCGCCGGCGTGAGATGCGCTGTGGTCAGGGTG GACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTCGC CCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATG CGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTCGG GGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(605): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGT CGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGA GGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCTCCCGGAGGTGGGG GGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAG CCGCCCCGCCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAG CCGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0034	1	155	0.0065	612	c.155 others(631): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCAGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCGGG AGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGC GACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCCCCC CGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(605): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGT CGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGA GGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCTCCCGGAGGTGGGG GGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAG CCGCCCCGCCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAG CCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	155	0.0065	612	c.155 others(631): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCAGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCGGG AGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGC GACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCCCCC CGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(605): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGT CGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGA GGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCTCCCGGAGGTGGGG GGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAG CCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGC CGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0150 a0001c0001t0021g0150	1	155	0.0065	612	c.155 others(631): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCAGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCGGG AGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGC GACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCCCCC CGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(605): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTACTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTACTGTGTCCC TCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0034 a0034	a0034c0031 a0034c0031	a0034c0031t0001 a0034c0031t0001	a0034c0031t0001g0035 a0034c0031t0001g0035	1	268	0.0037	612	c.292 others(627): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCTCCCACCTGTACTGTGTCCCTCACCTGTACTGTGTC CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGT ACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC TCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(605): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCTCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTAC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCT GTACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0026 a0026	a0026c0017 a0026c0017	a0026c0017t0001 a0026c0017t0001	a0026c0017t0001g0175 a0026c0017t0001g0175	1	268	0.0037	612	c.292 others(627): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCTC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC CCTCACCTGTACTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
P2RX5_chr17_3668227_3701155	3686319	G G	GAGAACAG others(605): Show GAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAAC GCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCA GCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACG TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCC CCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGA GAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCG CCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCC AACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGG GCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAAC AGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0154 a0002c0002t0001g0154	1	362	0.0028	612	c.981 others(629): Show c.981+1692_981+1693insGAGGCTGGGCGGGGGGCGGGGGACGTTG GGAGGGTCCCTGGGGGCCCAGCTGTGTGTTCTCCTGTTCTGAGGCTGGGC GGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCAGCTGTGCGTTCT CCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGG GGCCCAGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGAC GTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTCTGAGGCT GGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCG TTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCC TGGGGGCCCAGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGG GGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTCTGA GGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCAGCTG TGTGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGG TCCCTGGGGGCCCAGCTGTGTGTTCTCCTGTTCT	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PAK2_chr3_196734857_196837647	196811197	T T	TCCTCCCT others(605): Show TCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCCTC CCTTCCTTCCCTTCCCTACCCTCCCTTCCCTTCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTCCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCT CCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTC CCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCCCTTC CTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTC CTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTC CCTCCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0027 a0001c0001t0049g0027	1	178	0.0056	612	c.773 others(627): Show c.773+554_773+555insCTCCCTTCCTTCCCTTCCCTACCCTCCCTT CCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTC CCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTTCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCC CTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT TCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTC CCTCCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTC CCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCT CCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTC CCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCCCTTC CTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196811297	C C	CTTCCTTC others(605): Show CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTTCCTT CCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCT TCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTT CCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCCTTCCCTCCCTTCC TTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTC CCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCC CTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCT TTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0124 a0001c0001t0004g0124	1	178	0.0056	612	c.773 others(627): Show c.773+645_773+646insTCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCTTCCCTCCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCC TCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCT CCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCC TTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTC CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTC CCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCC CTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCT TCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(605): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	436	0.0023	612	c.-26 others(623): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGATAGA TACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA GATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)