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
ARHGAP39_chr8_144524179_144690846	144687687	A A	ACCCCCGT others(416): Show ACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACA CATTTACAGTGAACACTTCCCACCCCGTGACCACACACTGGCGGTGAGCA CTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGA CCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGT GAGCACTTCCCACCCCGTGACCACACATTTACAGTGAACACTTCCCACCC CGTGACCACGCACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTG GCGGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCC CACCCCTGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCAC ACACTGGCGGTGAGCACTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0168 a0001c0001t0007g0168	1	246	0.0041	423	c.-20 others(434): Show c.-2084_-2083insGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGG GGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTC ACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGG TCACGGGGTGGGAAGTGCTCACCGCCAGTGCGTGGTCACGGGGTGGGAAG TGTTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTG TGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTG GGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGC CAGTGTGTGGTCACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACG GGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1842		chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825143	T T	TTCACCTG others(416): Show TTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACC CCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCCGCACCCCACCTGTC CCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCC ACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCC CCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCAATCCAC CTGTCCCCCCGCACCCCACCTGTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0007 a0007	a0007c0053 a0007c0053	a0007c0053t0001 a0007c0053t0001	a0007c0053t0001g0016 a0007c0053t0001g0016	1	363	0.0028	423	c.-48 others(440): Show c.-48+1030_-48+1031insTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCTG CACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACC CCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTA CTCTGCACCCCAGCTGTCCCCCCCACACCCCACCTGTTCACCCGCACTCC ACCTGTCCCCCCGCAATCCACCTGTCCCCCCGCACCCCACCTGTC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28			chr8	TogoVar
ASH1L_chr1_155330268_155567803	155444916	C C	CTTGTTTG others(416): Show CTTGTTTGTTTGTTCTTTAAAGGGACGGAGTCTGGCTCTGTTGTCCAAGC TGGAGTGCGACAGCAGAATCACAGCTCACTGCAGCATCCACCTCCTAGGC TCAAGGGATTCTTACATGTCAGCCTCCCACGTAACTGGGACTACAGGCAT GAGACAGGACACTTGGCTAATTTTTCTATTTTTTTTTTTTTTTTTTTTAG AGACAGGGTCTCACTATGCTGCCCAGGCTGGTTTCCAACTCCTGGGCTCA AGTGATTATCCGGCCACATCCTCCCTAAGTGTTTTTTTTCATAGACAGAG TATTGCTTCAATGATCCTCTAGCCTCAGCCTCCCAAAGTGTTGAGCTTAC AGGCATGAGCCACCAAGCGCAAGTCTAGCCTTAAATAACGTTTTTTTGAA AAGCAAAAGTCTTAAAGTTTGATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02109.hp1 others(4): Show HG01109.hp1 HG02055.hp2 HG02109.hp1 HG02723.hp1 HG03195.hp2 NA19030.hp1 NA19240.hp2	a0003 a0005 a0011 a0003 a0005 a0011	a0003c0003 a0005c0005 a0011c0014 a0003c0003 a0005c0005 a0011c0014	a0003c0003t0003 a0005c0005t0002 a0011c0014t0002 a0003c0003t0003 a0005c0005t0002 a0011c0014t0002	a0003c0003t0003g0176 a0003c0003t0003g0177 a0003c0003t0003g0178 others(4): Show a0003c0003t0003g0176 a0003c0003t0003g0177 a0003c0003t0003g0178 a0003c0003t0003g0179 a0005c0005t0002g0174 a0005c0005t0002g0175 a0011c0014t0002g0173	7	182	0.0385	423	c.508 others(442): Show c.5087-5849_5087-5848insTATCAAACTTTAAGACTTTTGCTTTT CAAAAAAACGTTATTTAAGGCTAGACTTGCGCTTGGTGGCTCATGCCTGT AAGCTCAACACTTTGGGAGGCTGAGGCTAGAGGATCATTGAAGCAATACT CTGTCTATGAAAAAAAACACTTAGGGAGGATGTGGCCGGATAATCACTTG AGCCCAGGAGTTGGAAACCAGCCTGGGCAGCATAGTGAGACCCTGTCTCT AAAAAAAAAAAAAAAAAAAATAGAAAAATTAGCCAAGTGTCCTGTCTCAT GCCTGTAGTCCCAGTTACGTGGGAGGCTGACATGTAAGAATCCCTTGAGC CTAGGAGGTGGATGCTGCAGTGAGCTGTGATTCTGCTGTCGCACTCCAGC TTGGACAACAGAGCCAGACTCCGTCCCTTTAAAGAACAAACAAACAA	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	4/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155444916	C C	CTTGTTTG others(416): Show CTTGTTTGTTTGTTCTTTAAAGGGACGGAGTCTGGCTCTGTTGTCCAAGC TGGAGTGTGACAGCAGAATCACAGCTCACTGCAGCATCCACCTCCTAGGC TCAAGGGATTCTTACATGTCAGCCTCCCACGTAACTGGGACTACAGGCAT GAGACAGGACACTTGGCTAATTTTTCTATTTTTTTTTTTTTTTTTTTTAG AGACAGGGTCTCACTATGCTGCCCAGGCTGGTTTCCAACTCCTGGGCTCA AGTGATTATCCGGCCACATCCTCCCTAAGTGTTTTTTTTCATAGACAGAG TATTGCTTCAATGATCCTCTAGCCTCAGCCTCCCAAAGTGTTGAGCTTAC AGGCATGAGCCACCAAGCGCAAGTCTAGCCTTAAATAACGTTTTTTTGAA AAGCAAAAGTCTTAAAGTTTGATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02630.hp1 HG01891.hp1 HG02630.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0005 a0004c0004t0004g0006 a0004c0004t0004g0005 a0004c0004t0004g0006	2	182	0.0110	423	c.508 others(442): Show c.5087-5849_5087-5848insTATCAAACTTTAAGACTTTTGCTTTT CAAAAAAACGTTATTTAAGGCTAGACTTGCGCTTGGTGGCTCATGCCTGT AAGCTCAACACTTTGGGAGGCTGAGGCTAGAGGATCATTGAAGCAATACT CTGTCTATGAAAAAAAACACTTAGGGAGGATGTGGCCGGATAATCACTTG AGCCCAGGAGTTGGAAACCAGCCTGGGCAGCATAGTGAGACCCTGTCTCT AAAAAAAAAAAAAAAAAAAATAGAAAAATTAGCCAAGTGTCCTGTCTCAT GCCTGTAGTCCCAGTTACGTGGGAGGCTGACATGTAAGAATCCCTTGAGC CTAGGAGGTGGATGCTGCAGTGAGCTGTGATTCTGCTGTCACACTCCAGC TTGGACAACAGAGCCAGACTCCGTCCCTTTAAAGAACAAACAAACAA	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	4/27			chr1	TogoVar
ATP13A3_chr3_194397677_194492002	194421126	A A	ATATATAT others(416): Show ATATATATATATATATATATATATATATATAGTTTATATATATATAGTTT ATATATATATAAACTATATATATAGTATATATATAAACTATATATATAGT ATATATATATACTATATATATAGTATATATATATACTATATATATAGTAT ATATATATACTATATATAGTTTATATATATATACTATATATATAGTTTAT ATATATATATACTATATATAGTATATATATATATAAACTATATATATAGT TTATATATATATAAACTATATATATAGTTTATATATATATAAACTATATA TATAGTTTATATATATATAAACTATATATATAGTTTATATATATATAAAC TATATATATAGTTTATATATATATACTATATATAGTTTATATATATATAC TATATATATAGTATATATATATAC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19054.hp2 NA19057.hp1 NA18979.hp2 NA19054.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0006g0275 a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0006g0275	3	304	0.0099	423	c.331 others(442): Show c.3314-1160_3314-1159insGTATATATATATACTATATATATAGT ATATATATATAAACTATATATAGTATATATATATAAACTATATATATAGT TTATATATATATAAACTATATATATAGTTTATATATATATAAACTATATA TATAGTTTATATATATATAAACTATATATATAGTTTATATATATATAAAC TATATATATAGTTTATATATATATATACTATATATAGTATATATATATAT AAACTATATATATAGTATATATATATAAACTATATATAGTATATATATAT ACTATATATATAGTATATATATATACTATATATATAGTATATATATATAC TATATATATAGTTTATATATATACTATATATATAGTTTATATATATATAA ACTATATATATATAAACTATATATATATATATATATATATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
B3GNTL1_chr17_82937149_83056770	83023036	G G	GCCCACCT others(416): Show GCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGCCC CACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGCCCCAC CTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCCCACCTG CACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGCCCCACCTGCAC CAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCCCACCTGCACCAG CGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGT GAACTCACGTTAGCTTAGGACTGTCCCCGGCCCACCTGCACCAGCGTGAA CTCACATGAGCTTAGCACTGTCCCTGGCCCACCTGCACCAGCGTGAACTC ACATTCGCTTAGCACTGTCCCCGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01934.hp1 HG03239.hp2 HG00099.hp1 HG01934.hp1 HG03239.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0009 a0001c0002 a0002c0009	a0001c0002t0002 a0002c0009t0003 a0001c0002t0002 a0002c0009t0003	a0001c0002t0002g0109 a0001c0002t0002g0112 a0002c0009t0003g0078 a0001c0002t0002g0109 a0001c0002t0002g0112 a0002c0009t0003g0078	3	266	0.0113	423	c.298 others(440): Show c.298-8518_298-8517insGCGGGGACAGTGCTAAGCGAATGTGAGT TCACGCTGGTGCAGGTGGGCCAGGGACAGTGCTAAGCTCATGTGAGTTCA CGCTGGTGCAGGTGGGCCGGGGACAGTCCTAAGCTAACGTGAGTTCACGC TGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGG TGCAGGTGGGCCGGGGACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGC AGGTGGGGCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGG TGGGCCGGGGACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAGGTGG GGCGGGGACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAGGTGGGGC GGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83023111	T T	TAGCTTAG others(416): Show TAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACGTTAG CTTAGGACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACGTTAGCTT AGCACTGTCCCTGGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGC ACTGTCCCCGCTCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACT GTCCCCGCCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTC CCCGGCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCC GCCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGC CCACCTGCACCAGCGTGAACTCACGTTAGCTTAGGACTGTCCCCGGCCCA CCTGCACCAGCGTGAACTCACATG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0245 a0001c0001t0004g0245	1	266	0.0038	423	c.298 others(440): Show c.298-8593_298-8592insCATGTGAGTTCACGCTGGTGCAGGTGGG CCGGGGACAGTCCTAAGCTAACGTGAGTTCACGCTGGTGCAGGTGGGCCG GGGACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAGGTGGGGCGGGG ACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACA GTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGGCGGGGACAGTG CTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGAGCGGGGACAGTGCTA AGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCCAGGGACAGTGCTAAGC TAACGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACAGTCCTAAGCTAA CGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACAGTGCTAAGCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BMT2_chr7_112814147_112944875	112865769	A A	ATTTCATA others(416): Show ATTTCATATATACATATATCATATATATTTTTCATATATATACACATATA TTCATATATACTCGTATATATTTTCATATATACATATATTCATATATACT CGTATATATTTTCATGTATACATATATTCATATATATATTTTCATATACA TATATTCATATATATATTTTCATATACATATATTCATATATATTTCATAT ATACATATATGAAATTTTTCACATATACATATACATACATATATATGTAT ATATGTACGTATATACATATGCATACATATATACGTATATATGTATGTAT ATGCATACATATATACGTATATATGTATGTATATACATACATATATTCAT ATATACATATATTCATATATATTTTTTCATATATATATTCATATATATTT TCATATATATTCATTCATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02622.hp1 HG02896.hp2 others(1): Show HG01192.hp2 HG02622.hp1 HG02896.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0002 a0001c0002t0008g0036 a0001c0002t0008g0037 a0001c0002t0008g0002 a0001c0002t0008g0036 a0001c0002t0008g0037	4	206	0.0194	423	c.473 others(442): Show c.473+29799_473+29800insATATATATGAATGAATATATATGAAA ATATATATGAATATATATATGAAAAAATATATATGAATATATGTATATAT GAATATATGTATGTATATACATACATATATACGTATATATGTATGCATAT ACATACATATATACGTATATATGTATGCATATGTATATACGTACATATAT ACATATATATGTATGTATATGTATATGTGAAAAATTTCATATATGTATAT ATGAAATATATATGAATATATGTATATGAAAATATATATATGAATATATG TATATGAAAATATATATATGAATATATGTATACATGAAAATATATACGAG TATATATGAATATATGTATATATGAAAATATATACGAGTATATATGAATA TATGTGTATATATATGAAAAATATATATGATATATGTATATATGAAA	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	3/4			chr7	TogoVar
C17orf67_chr17_56786913_56838920	56792819	G G	GTGATGGT others(416): Show GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGG TGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTG GTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGATGGT GATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGGTGG TGATGGTGGTGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTG GTGGTGGTGATGGTGATGATGGTGGTGATGGTAGTGGTGGTGGTGATGGT GATGATGATGGTGGTGATGGTAGTGGTGATGGTGATGATGGTGGTGATGG TGATGATGGTGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	292	0.0034	423	c.21 others(438): Show c.21-468_*21-467insTCACCACCATCACCACCATCATCACCATCA CCACCATCATCACCATCACCACTACCATCACCACCATCATCATCACCATC ACCACCACCACTACCATCACCACCATCATCACCATCACCACCACCACCAT CACCACCATCATCACCATCACCACCATCATCACCACCACCATCACCACCA TCACCACCACCATCACCACCATCATCACCATCACCACCACCATCACCATC ATCACCATCACCACCACCACCACCATCACCACCATCACCACCACCACCAC CACCATCACCATCACCACCATCATCACCATCACCACCATCATCACCATCA CCACCACCATCACCACCATCACCACCACCATCACCACCATCACCATCACC ACCACCACCATCACCACCATCATCACCATCACCACCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C17orf67_chr17_56786913_56838920	56792825	G G	GTGATGGT others(416): Show GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGG TGATGATGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGATGGTGATGGT GGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGG TGGTGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTG GTGATGGTGATGATGGTGGTGATGGTAGTGGTGGTGGTGATGGTGATGAT GATGGTGGTGATGGTAGTGGTGATGGTGATGATGGTGGTGATGGTGATGA TGGTGGTGATGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0038 a0001c0001t0007g0038	1	292	0.0034	423	c.21 others(438): Show c.21-474_*21-473insTCACCATCACCACCATCACCACCATCATCA CCATCACCACCATCATCACCATCACCACTACCATCACCACCATCATCATC ACCATCACCACCACCACTACCATCACCACCATCATCACCATCACCACCAC CACCATCACCACCATCATCACCATCACCACCATCATCACCACCACCATCA CCACCATCACCACCACCATCACCACCATCATCACCATCACCACCACCATC ACCATCATCACCATCACCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCATCACCATCACCACCACCATCACCACCATCATCACCATCA CCACCACCATCACCACCATCACCACCACCATCACCACCATCACCATCACC ACCACCACCATCACCACCATCATCACCATCACCACCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C17orf67_chr17_56786913_56838920	56792867	G G	GTGGTGGT others(416): Show GTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGATGGTGAT GGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTGATGA TGGTGGTGATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGATGGTGATGGT GGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGG TGGTGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTG GTGATGGTGATGATGGTGGTGATGGTAGTGGTGATGGTGATGATGGTGGT GATGGTGATGATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	292	0.0034	423	c.21 others(438): Show c.21-516_*21-515insTCACCACCACCACCACCATCACCACCACCA CCACCACCATCACCATCACCACCATCACCACCATCATCACCATCACCACC ATCATCACCATCACCACTACCATCACCACCATCATCACCATCACCACCAC CACCATCACCACCATCATCACCATCACCACCATCATCACCACCACCATCA CCACCATCACCACCACCATCACCACCATCATCACCATCACCACCACCATC ACCATCATCACCATCACCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCATCACCATCACCACCATCATCACCATCACCACCATCATCA CCATCACCACCACCATCACCACCATCACCACCACCATCACCACCATCACC ATCACCACCACCACCATCACCACCATCATCACCATCACCACCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
CACNA1H_chr16_1148106_1226768	1185607	G G	GGGCCGGG others(416): Show GGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGC ATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGA CGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCG AGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGG GCGAGTAGACGGTCGGCATGCATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0244 a0002c0002t0001g0244	1	338	0.0030	423	c.300 others(440): Show c.300-9363_300-9362insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACG TGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGG GGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMTA1_chr1_6780454_7774706	6940912	A A	AGGGGGTC others(416): Show AGGGGGTCCTCACAGGGAGGAGGATCCTCAGGGGGAGGGGGATCCTCACA GGGAGGGGATCCTCGGGAAGGTGGATCCTCACGGGGAGGAGGATCCTCAC GGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCACGGGGAGGGGATCCT CAGGGGGAGGGGGATCCTCCTCAGGGGGAGGGGGATCCTCCTCAGGGGGA GGGGGGATCCTCACGGGGAAGGGGGATCCTCACGGGGAAGGGGGATCCTC ACGGGGAGGCGGGTCCTCACGGGGAGTGGGGATCCTCCAAGGGGAGGGGG ATCCTCACGGGGAGGGGGATCCTCAGAGGGAGGGGGATCCTCACGGGGAG GGGGGATCCTTGGGGGGAGGGGGATCCTTGGGGGGAGGGGGATCCTCACA GGGTGGGGGGATCCTCACAGGGAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA20300.hp1 HG02280.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0001 a0001c0001t0012 a0001c0002t0001	a0001c0001t0012g0019 a0001c0002t0001g0020 a0001c0001t0012g0019 a0001c0002t0001g0020	2	58	0.0345	423	c.234 others(444): Show c.234+115706_234+115707insGTCCTCACAGGGAGGAGGATCCTC AGGGGGAGGGGGATCCTCACAGGGAGGGGATCCTCGGGAAGGTGGATCCT CACGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCACGGGGAGGGGGA TCCTCACGGGGAGGGGATCCTCAGGGGGAGGGGGATCCTCCTCAGGGGGA GGGGGATCCTCCTCAGGGGGAGGGGGGATCCTCACGGGGAAGGGGGATCC TCACGGGGAAGGGGGATCCTCACGGGGAGGCGGGTCCTCACGGGGAGTGG GGATCCTCCAAGGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCAGAGG GAGGGGGATCCTCACGGGGAGGGGGGATCCTTGGGGGGAGGGGGATCCTT GGGGGGAGGGGGATCCTCACAGGGTGGGGGGATCCTCACAGGGAGGGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CARD11_chr7_2901142_3048867	2909387	C C	CCCCTCCG others(416): Show CCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCTCATCCCTCC GCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCTCACCCCTGCGCCCCT CACCTTCCGCCCCCACCCTCCGCCTCTCATCCCTCCACCCCTCGCCCCTC CGCCCCCACCCCTCCGCCCCCACCCCTCCGCCCCCCACCCCTCCGCCCCC CACCCCTCCGCCCCTCACCCTCCGCCTCTCATCCCTCCGCCCCTCACCCC TCCGCCCCCCACCCCTCCGCCCCTCACCCTCCGCCTCTCATCCCTCCGCC CCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCCACCCCTCCGCCCCTCA CCCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCCCACCCCTC CGCCCCCCACCCCTCCGCCCCTCA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19088.hp1 NA19056.hp1 NA19088.hp1	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0002 a0003c0022t0002	a0003c0022t0002g0148 a0003c0022t0002g0204 a0003c0022t0002g0148 a0003c0022t0002g0204	2	322	0.0062	423	c.326 others(440): Show c.3260+662_3260+663insTGAGGGGCGGAGGGGTGGGGGGCGGAGG GGTGGGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGCGGAGGGTGAG GGGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGGGGCG GAGGGATGAGAGGCGGAGGGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGG TGAGGGGCGGAGGGATGAGAGGCGGAGGGTGAGGGGCGGAGGGGTGGGGG GCGGAGGGGTGGGGGGCGGAGGGGTGGGGGCGGAGGGGTGGGGGCGGAGG GGCGAGGGGTGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAAGGTGAGGG GCGCAGGGGTGAGGGGCGGAGGGGTGGGGGCGGAGGGGCGAGGGGCGGAG GGATGAGAGGCGGAGGGTGGGGGCGGAGGGGTGGGGGGCGGAGGG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CBFA2T3_chr16_88869858_88982207	88894454	G G	GCACACAT others(416): Show GCACACATGCACACACACATGCATACATATACACATGCACACAATGTACA CACATGCACGCACACATGCACACACACATGCATACATATACACATGCACA CAATGTACACACATGCACGCACACATGCACACACACATGCATACATATAC ACATGCACACAATGTACACACATGCACGCACACATGCACACACACATGCA TACATATACACATGCACACAATGTACACACATGCACGCACACATGCACAC ACATGCATACATATACACATGCACACAATGTACACACATGCACGCACACA TGCACACACACATGCATACATATACACATGCACACAATGTACACACATGC ACGCACACATGCACACACACATGCATACATATACACATGCACACAATGTA CACACATGCACGCACACATGCACA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	284	0.0035	423	c.380 others(440): Show c.380-1970_380-1969insTGTGCATGTGTGCGTGCATGTGTGTACA TTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCAT GTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTG TGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGT GCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCA TGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTAT ATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTG CATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTA CATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(416): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATA TTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATTAAAATAAATATTTATTTTAATATATAAAATAAATATTTA TTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	402	0.0025	423	c.80- others(438): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATTAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATATTTTATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251534	A A	ATAAAATA others(416): Show ATAAAATAAATATTTATTTTAATATTAAAATAAATATTTATTTTATATAT TAAATAAATATTTATTTTATATATTAAAATAAATATTTATTTTATATATA AAATAAATATTTATTTAATATATAAAATAAATATTTATTTTAATATATAA AATAAATATTTATTTTAATATATAAAATATTTATTTTAATATATAAAATA AATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATA AATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATA AATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATA AATATTTATTTTAATATATTAAAATAAATATTTATTTTATTTATTTATTT TAATATATAAAATATTTTATTTAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	402	0.0025	423	c.80- others(438): Show c.80-4974_80-4973insAAAATAAATATTTATTTTAATATTAAAATA AATATTTATTTTATATATTAAATAAATATTTATTTTATATATTAAAATAA ATATTTATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATT TATTTTATTTATTTATTTTAATATATAAAATATTTTATTTATT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CNOT1_chr16_58514951_58634826	58586394	C C	CAGGGGGA others(416): Show CAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGC AGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGG GAGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGG AGGGGAGGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGGA GGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAG GGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAGG GGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGAAGGGAAGGGGAGGGGAGG GGAGGGGAAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	308	0.0033	423	c.637 others(438): Show c.637+150_637+151insTCCCCTCCCCTCCCCTTCCCCTCCCCTCCC CTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCC CTTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCC CTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCT CCAGTCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGTC CCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCCTT CCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCCTC CCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTC CCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCT	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133778	T T	TCTCTCCA others(416): Show TCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTC TCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCT CTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCT TCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTC ACTCCACCTTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCTCTCCCTCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	223	0.0045	423	c.-42 others(434): Show c.-4266_-4265insCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTC TCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTTC CCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTC TCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCT CCCCTCACTCCACCTTCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3983		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CTTCCTCC others(416): Show CTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTC TCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTC CTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT CTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCC CTGTCTCCACCTCCCCTCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0137	1	223	0.0045	423	c.-42 others(434): Show c.-4215_-4214insTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCT CTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCA CCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCC ACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(416): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTG GTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCAC ATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	320	0.0031	423	c.-52 others(440): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGT TTATAACTGGTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGA CAACATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTG GCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTTGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(416): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAG GCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAA GGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGC AGGAAGGGAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02630.hp1 NA19003.hp1 others(1): Show HG02004.hp1 HG02630.hp1 NA19003.hp1 NA19087.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0003c0008 a0003c0009 others(1): Show a0001c0003 a0003c0008 a0003c0009 a0004c0025	a0001c0003t0001 a0003c0008t0002 a0003c0009t0001 others(1): Show a0001c0003t0001 a0003c0008t0002 a0003c0009t0001 a0004c0025t0001	a0001c0003t0001g0092 a0003c0008t0002g0285 a0003c0009t0001g0205 others(1): Show a0001c0003t0001g0092 a0003c0008t0002g0285 a0003c0009t0001g0205 a0004c0025t0001g0018	4	344	0.0116	423	c.85- others(440): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCC CCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCC TGCCTGCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGC CCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTG CCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL5A3_chr19_9954561_10015504	9970441	T T	TGGGGTGA others(416): Show TGGGGTGAGTGGGGGCTGTGGGGTAAGCGGGGGCTGTGGGGTGAGTGGGG TCTGTGGGGTGAGTGGGGGCTGTAAGGTGAGTGGGGTCTGTGGGTGAGTG GGGTCTGTGGTTGACTGGGTGCTGTGGGGTGAGTGGGGTCTGTAGGTGAG TGGGGTCTGTGGGTGAGTGTGTTCTGTGGCTGAGTGGGGTCTGTGGGGTA AGCGGGGGCTGTGGGGTGAGTGGGGTCTGTGGGTGAGTGGGGTCTGTGGT TGACTGGGGTCTGTGGGGTGAGTGGAATCTGTGGGTGAGTGGGGTCTGTG GGGTAAGCGGGGACTGTAAGGTGAGTGGGGTATGTGGGTGAGTGAGGGCT GTGGAGTGAGTGGGGTCTGTGGGGTGAGTGGGGGCTGTGGAGTGAGTGGG GTCTGTGGGTGAGTGGGGTCTGTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0034 a0034	a0034c0078 a0034c0078	a0034c0078t0001 a0034c0078t0001	a0034c0078t0001g0389 a0034c0078t0001g0389	1	412	0.0024	423	c.393 others(440): Show c.3936+180_3936+181insCACAGACCCCACTCACCCACAGACCCCA CTCACTCCACAGCCCCCACTCACCCCACAGACCCCACTCACTCCACAGCC CTCACTCACCCACATACCCCACTCACCTTACAGTCCCCGCTTACCCCACA GACCCCACTCACCCACAGATTCCACTCACCCCACAGACCCCAGTCAACCA CAGACCCCACTCACCCACAGACCCCACTCACCCCACAGCCCCCGCTTACC CCACAGACCCCACTCAGCCACAGAACACACTCACCCACAGACCCCACTCA CCTACAGACCCCACTCACCCCACAGCACCCAGTCAACCACAGACCCCACT CACCCACAGACCCCACTCACCTTACAGCCCCCACTCACCCCACAGACCCC ACTCACCCCACAGCCCCCGCTTACCCCACAGCCCCCACTCACCCC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45988254	C C	CGGCGGGG others(416): Show CGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGT CGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGG GGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGCT CCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAG ATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGCTCCAGAT GGAGGGGACGGCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGA GGGGACGGCGGGGCTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGG GGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAC GGCGGGGGTCCAGATGGAGGGGAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0118 a0002c0002t0008g0118	1	128	0.0078	423	c.804 others(438): Show c.804+624_804+625insTCGGGGCTCCAGATGGAGGGGACGTCGGGG CTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCC AGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGCTCCAGA TGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGA GGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGCTCCAGATGGAGG GGACGGCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGA CGGCGGGGCTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACG GCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGG GGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
CRTC3_chr15_90524923_90650345	90647359	A A	ACCCTCCT others(416): Show ACCCTCCTCCTTCACACCCCTCACCCCTTTTCCACATCCCTCCTCCTTGC CCCTCCTCCTCACCCTTTGTCCTCCTCCACACCCCTTCTCCTCCTCCATA CCCCTCCTTCTCAACCCTCCTCCTCCACACCCCTCCTCCTCACCCCTTCT CCTCCTCCACACCTGTCCTCCTCCACACTCATCCTCCTCACCGTTCCTCC ACCACATCCCTCCTCCTCCACACCCCTCCTCACCCCTTGTCCTCCTCCAA ACGCTTCTTCCTCCTGTTTCTTCCTCCACACCCCTCCTGCTCCACATCCC TCCCCCTCCATCCCCTCCACACCCCTCCCCCTCCTCACCCCGTCTCCTCC TCCACACCCCTCCTCCTCCATACCCCTCCTCCACCTCACACCTCCCCCTC ACCCCTTCTCCTCCACCACACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0237 a0007c0016t0001g0237	1	276	0.0036	423	c.52 others(434): Show c.5219_*5220insCCCTCCTCCTTCACACCCCTCACCCCTTTTCCAC ATCCCTCCTCCTTGCCCCTCCTCCTCACCCTTTGTCCTCCTCCACACCCC TTCTCCTCCTCCATACCCCTCCTTCTCAACCCTCCTCCTCCACACCCCTC CTCCTCACCCCTTCTCCTCCTCCACACCTGTCCTCCTCCACACTCATCCT CCTCACCGTTCCTCCACCACATCCCTCCTCCTCCACACCCCTCCTCACCC CTTGTCCTCCTCCAAACGCTTCTTCCTCCTGTTTCTTCCTCCACACCCCT CCTGCTCCACATCCCTCCCCCTCCATCCCCTCCACACCCCTCCCCCTCCT CACCCCGTCTCCTCCTCCACACCCCTCCTCCTCCATACCCCTCCTCCACC TCACACCTCCCCCTCACCCCTTCTCCTCCACCACACCCC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2015		chr15	TogoVar
CTPS2_chrX_16582999_16717669	16709157	G G	GTGGCTCA others(416): Show GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGAT TGCCTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATGGGGAAACCCC ATCTCTACTAAAATACAAAAAATCAGCCAGGTGTGGTGGCGTGCACCTGT AATCCCGGCTACTCAGGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGA GGTGGAGGTTGCAGTGAGCCAAGATTGTGCCAGTGCCCTCCAACCTGGGC AACAAAGTAAAACCCTGTCTCAAAAAAAAAAAAAAAGGAAGAAAGAAAAT GCTTATGTTACCTGAAAAAGAGAGCAGACTATAAAATTGAATATATTATT GACTATGTTTTTTTAAACTAAGATCTAAATTTTATTTGTCACCACTAAGA TTTCCATCTTATGGCCGGGTGCAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01978.hp1 HG02293.hp2 HG01975.hp2 HG01978.hp1 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0215 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0215	3	226	0.0133	423	c.-40 others(440): Show c.-40+3177_-40+3178insTTGCACCCGGCCATAAGATGGAAATCTT AGTGGTGACAAATAAAATTTAGATCTTAGTTTAAAAAAACATAGTCAATA ATATATTCAATTTTATAGTCTGCTCTCTTTTTCAGGTAACATAAGCATTT TCTTTCTTCCTTTTTTTTTTTTTTTGAGACAGGGTTTTACTTTGTTGCCC AGGTTGGAGGGCACTGGCACAATCTTGGCTCACTGCAACCTCCACCTCCC AGGTTCAAGCAATTCTCGTGCCTCAGCCTCCTGAGTAGCCGGGATTACAG GTGCACGCCACCACACCTGGCTGATTTTTTGTATTTTAGTAGAGATGGGG TTTCCCCATGTTGCCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCAATCC GCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	1/18			chrX	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(416): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGAGGGAGGGAGGAATGG AGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGA GGGGGAGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGAAGGGGAAGGGGAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGG GAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGGAG GGGAAGGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0067 a0003c0003t0005g0067	1	216	0.0046	423	c.923 others(442): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCC CCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCTTCCCCTTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTC CCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCC ATTCCTCCCTCCCTCCCTCCCTCCCTCCATTCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCLK2_chr4_150073445_150262438	150251127	C C	CCCCCAAC others(416): Show CCCCCAACACCCCCACACCCCCACACACCCCCCACACCACACATCCCCCA CACCCCCCAACACCCCCACACCCCCACACACCCCCCACACCACACATCCC CCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACAC CCCCAAATCCCCCACACCCCCCACATCTCCCCACACCCCCATCCCCCACA CTCCCCACACCCCCCACACCCCCCACACCACACATCCCCCACACCCCCCA CACCCCCACACACCCCCCACACCACACATCCCCCACACCCCAAATCCCCC ACACCCCCCACATCCCCCATACCCCCCAAATCCCCCACACCTCCCCACAT CCCCCATACCCCTCACATCCCCCACACCTCCCCCATCCCCCACACCCCCC CACACCCCCCACATCCCCCACACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	116	0.0086	423	c.207 others(442): Show c.2073+1443_2073+1444insCCCCAACACCCCCACACCCCCACACA CCCCCCACACCACACATCCCCCACACCCCCCAACACCCCCACACCCCCAC ACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACACCC CCCACACCACACATCCCCCACACCCCCAAATCCCCCACACCCCCCACATC TCCCCACACCCCCATCCCCCACACTCCCCACACCCCCCACACCCCCCACA CCACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACAC ATCCCCCACACCCCAAATCCCCCACACCCCCCACATCCCCCATACCCCCC AAATCCCCCACACCTCCCCACATCCCCCATACCCCTCACATCCCCCACAC CTCCCCCATCCCCCACACCCCCCCACACCCCCCACATCCCCCACACA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(416): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	367	0.0027	423	c.-42 others(434): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGG AGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGAGGGAGTTGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DLGAP2_chr8_732628_1713476	1016340	G G	GAGACCAG others(416): Show GAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGG TGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGAGAC CAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGACGCCT CCACTGTGTGTATGACCAGGACAGACGGCGCCTCCACTGTGTGTGACCAG GACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCA CTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGG ACAGACGGCGCCTCCACTGTGTGTATGACCAGGACAGACGGCGCCTCCAC TGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTATGACCAGGA CAGACGACGCCTCCACTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	423	c.73+ others(442): Show c.73+108374_73+108375insAGACCAGGACAGACGATGCCTCCACT GTGTGTATGACCAGGACAGACGGTGCCTCCACTGTGTGTGACCAGGACAG ACGGCGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTG TATGACCAGGACAGACGACGCCTCCACTGTGTGTATGACCAGGACAGACG GCGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGT GACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCG CCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTATG ACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGC CTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
DPEP1_chr16_89608642_89643433	89619208	C C	CTCCCTGC others(416): Show CTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTG CAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTC CCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGC CCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTG CTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCGCTCCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	250	0.0040	423	c.-10 others(442): Show c.-107+5489_-107+5490insTCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCC TGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCC CGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
EML1_chr14_99788413_99947060	99927999	G G	GTGGTGAT others(416): Show GTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGA TGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG AGGTGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA20300.hp2 HG01109.hp1 NA20300.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0006 a0003c0002t0001 a0003c0002t0006	a0003c0002t0001g0223 a0003c0002t0006g0042 a0003c0002t0001g0223 a0003c0002t0006g0042	2	288	0.0069	423	c.190 others(442): Show c.1909+7127_1909+7128insATGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG ATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928179	G G	GTGGTGGT others(416): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG AGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0122 a0002c0001t0002g0122	1	288	0.0035	423	c.190 others(442): Show c.1909+7322_1909+7323insATGGTGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGAGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ENTR1_chr9_136396922_136415614	136403322	G G	GGGGGGAG others(416): Show GGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGG GGGAGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGG AGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGA AAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAG GGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGA CAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAG GGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGT CCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCC AGGGAGCAAGGGGTGGGGTTTGCC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18966.hp1 NA18951.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	2	412	0.0049	423	c.120 others(440): Show c.1209-436_1209-435insGGCAAACCCCACCCCTTGCTCCCTGGGA CCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCC TGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGAACCCTGT CCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGAACCCTGTCCC TTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTT CTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTC CCCCGGCAAACCCCACCCCTTGCTCCCTGGAACCCTGTCCCTTTCTCCCC CGGCAAACCCCACCCCTTGCTCCCTGGAACCCTGTCCCTTTCTCCCCCGG CAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTCCCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
EXD3_chr9_137301896_137428162	137322733	A A	ACGAGGGA others(416): Show ACGAGGGATGCTCTGCCGACACCTCACCCCGGACCAGGGATGCTCTGCCA ATACCTCACCCCAGACCCACGAGGGATGCTCTGTCGACGCCTTGCCCCGG AACCATGAGGGATGCTCTGCCGACACCCCACCCCAGACCCCGAGGAATTC TTTGCCGACACCTCACCCCAGACCCACGAGGGATTCTCTGCCGACGCCTC ACCCTGGACCAGGGATGCTCTGCCGACACCTCACCCCGGACCCACGAGGG ATGCTCTGCCGACACCTCACCCCGGACCCACGAGGGATGCTCTGCCGACA CCTCACCCCGGAATCATGAGGGATGCTCTGCCGATACCTCACCCCAGACC CACGAGGGATGCTCTGCCGACACCCCACCGCGGACCCCCGAGGGATTCTC TGCCGACACCCCACCCCGGACCCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0029 a0029	a0029c0036 a0029c0036	a0029c0036t0001 a0029c0036t0001	a0029c0036t0001g0003 a0029c0036t0001g0003	1	82	0.0122	423	c.218 others(440): Show c.2184+991_2184+992insGGGGTCCGGGGTGGGGTGTCGGCAGAGA ATCCCTCGGGGGTCCGCGGTGGGGTGTCGGCAGAGCATCCCTCGTGGGTC TGGGGTGAGGTATCGGCAGAGCATCCCTCATGATTCCGGGGTGAGGTGTC GGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCT CGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTGGTCCAGGGTGAGG CGTCGGCAGAGAATCCCTCGTGGGTCTGGGGTGAGGTGTCGGCAAAGAAT TCCTCGGGGTCTGGGGTGGGGTGTCGGCAGAGCATCCCTCATGGTTCCGG GGCAAGGCGTCGACAGAGCATCCCTCGTGGGTCTGGGGTGAGGTATTGGC AGAGCATCCCTGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTCG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137322742	G G	GCTCTGCC others(416): Show GCTCTGCCGACACCTCACCCCGGACCAGGGATGCTCTGCCAACACCTCAC CCCAGACCCACGAGGGATGCTCTGTCGACGCCTTGCCCCGGAACCATGAG GGATGCTCTGCCGACACCCCACCCCAGACCCCGAGGAATTCTTTGCCGAC ACCTCACCCCAGACCCACGAGGGATTCTCTGCCGACGCCTCACCCTGGAC CAGGGATGCTCTGCCGACGCCTCACCCCGGACCCACGAGGGATGCTCTGC CGACACCTCACCCCGGACCCACGAGGGATGCTCTGCCGACACCTCACCCC GGACCCACGAGGGATGCTCTGCCGACACCCCACCCCGGACCCACGAGGGA TGCTCTGCCGACACCCCACCCCGGACCCACGAGGGATGCTCTGCCGACAC CCCACCGCGGACCCCCGAGGGATT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0014 a0004c0009t0001g0014	1	82	0.0122	423	c.218 others(440): Show c.2184+982_2184+983insAATCCCTCGGGGGTCCGCGGTGGGGTGT CGGCAGAGCATCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGAGCATCCC TCGTGGGTCCGGGGTGGGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGG TGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAG AGCATCCCTCGTGGGTCCGGGGTGAGGCGTCGGCAGAGCATCCCTGGTCC AGGGTGAGGCGTCGGCAGAGAATCCCTCGTGGGTCTGGGGTGAGGTGTCG GCAAAGAATTCCTCGGGGTCTGGGGTGGGGTGTCGGCAGAGCATCCCTCA TGGTTCCGGGGCAAGGCGTCGACAGAGCATCCCTCGTGGGTCTGGGGTGA GGTGTTGGCAGAGCATCCCTGGTCCGGGGTGAGGTGTCGGCAGAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137322742	G G	GCTCTGCC others(416): Show GCTCTGCCGACACCTCACCCCGGACCAGGGATGCTCTGCCAATACCTCAC CCCAGACCCACGAGGGATGCTCTGTCGACGCCTTGCCCCGGAACCATGAG GGATGCTCTGCCGACACCCCACCCCAGACCCCGAGGAATTCTCTGCCGAC ACCTCACCCCAGACCCACGAGGGATTCTCTGCCGACGCCTCACCCTGGAC CAGGGATGCTCTGCCGACACCTCACCCCGGACCCACGAGGGATGCTCTGC CGACACCTCACCCCGGACCCACGAGGGATGCTCTGCCGACACCTCACCCC GGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGACCCACGAGGGA TGCTCTGCCGACACCCCACCCCGGACCCACGAGGGATGCTCTGCCGACAC CCCACCGCGGACCCCCGAGGGATT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	82	0.0122	423	c.218 others(440): Show c.2184+982_2184+983insAATCCCTCGGGGGTCCGCGGTGGGGTGT CGGCAGAGCATCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGAGCATCCC TCGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGG TGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAG AGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTGGTCC AGGGTGAGGCGTCGGCAGAGAATCCCTCGTGGGTCTGGGGTGAGGTGTCG GCAGAGAATTCCTCGGGGTCTGGGGTGGGGTGTCGGCAGAGCATCCCTCA TGGTTCCGGGGCAAGGCGTCGACAGAGCATCCCTCGTGGGTCTGGGGTGA GGTATTGGCAGAGCATCCCTGGTCCGGGGTGAGGTGTCGGCAGAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137322742	G G	GCTCTGCC others(416): Show GCTCTGCCGACACCTCACCCCGGACCAGGGATGCTCTGCCAATACCTCAC CCCAGACCCACGAGGGATGCTCTGTCGACGCCTTGCCCCGGAACCATGAG GGATGCTCTGCCGACACCCCACCCCAGACCCCGAGGAATTCTTTGCCGAC ACCTCACCCCAGACCCACGAGGGATTCTCTGCCGACGCCTCACCCTGGAC CAGGGATGCTCTGCCGACACCTCACCCCGGACCCACGAGGGATGCTCTGC CGACACCTCACCCCGGACCCACGAGGGATGCTCTGCCGACACCTCACCCC GGACCCACGAGGGATGCTCTGCCGACACCCCACCCCGGACCCACGAGGGA TGCTCTGCCGACACCCCACCCCGGACCCCCGAGGGATTCTCTGCCGACAC CCCACCGCGGACCCCCGAGGGATT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0046 a0012c0012t0001g0046	1	82	0.0122	423	c.218 others(440): Show c.2184+982_2184+983insAATCCCTCGGGGGTCCGCGGTGGGGTGT CGGCAGAGAATCCCTCGGGGGTCCGGGGTGGGGTGTCGGCAGAGCATCCC TCGTGGGTCCGGGGTGGGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGG TGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAG AGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTGGTCC AGGGTGAGGCGTCGGCAGAGAATCCCTCGTGGGTCTGGGGTGAGGTGTCG GCAAAGAATTCCTCGGGGTCTGGGGTGGGGTGTCGGCAGAGCATCCCTCA TGGTTCCGGGGCAAGGCGTCGACAGAGCATCCCTCGTGGGTCTGGGGTGA GGTATTGGCAGAGCATCCCTGGTCCGGGGTGAGGTGTCGGCAGAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137322742	G G	GCTCTGCC others(416): Show GCTCTGCCGACACCTCACCCCGGACCAGGGATGCTCTGCCAATACCTCAC CCCAGACCCACGAGGGATGCTCTGTCGACGCCTTGCCCCGGAACCATGAG GGATGCTCTGCCGACACCCCACCCCAGACCCCGAGGAATTCTTTGCCGAC ACCTCACCCCAGACCCACGAGGGATTCTCTGCCGACGCCTCACCCTGGAC CAGGGATGCTCTGCCGACACCTCACCCCGGACCCACGAGGGATGCTCTGC CGACACCTCACCCCGGACCCACGAGGGATGCTCTGCCGACACCTCACCCC GGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGAATCATGAGGGA TGCTCTGCCGACACCCCACCCCAGACCCACGAGGGATGCTCTGCCGACAC CCCACCGCGGACCCCCGAGGGATT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	82	0.0122	423	c.218 others(440): Show c.2184+982_2184+983insAATCCCTCGGGGGTCCGCGGTGGGGTGT CGGCAGAGCATCCCTCGTGGGTCTGGGGTGGGGTGTCGGCAGAGCATCCC TCATGATTCCGGGGTGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGG TGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAG AGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTGGTCC AGGGTGAGGCGTCGGCAGAGAATCCCTCGTGGGTCTGGGGTGAGGTGTCG GCAAAGAATTCCTCGGGGTCTGGGGTGGGGTGTCGGCAGAGCATCCCTCA TGGTTCCGGGGCAAGGCGTCGACAGAGCATCCCTCGTGGGTCTGGGGTGA GGTATTGGCAGAGCATCCCTGGTCCGGGGTGAGGTGTCGGCAGAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137322742	G G	GCTCTGCC others(416): Show GCTCTGCCGACACCTCACCCCGGACCAGGGATGCTCTGCCAATACCTCAC CCCAGACCCACGAGGGATGCTCTGTCGACGCCTTGCCCCGGAACCATGAG GGATGCTCTGCCGACACCCCACCCCAGACCCCGAGGAATTCTTTGCCGAC ACCTCACCCCAGACCCACGAGGGATTCTCTGCCGACGCCTCACCCTGGAC CAGGGATGCTCTGCCGACACCTCACCCCGGACCCACGAGGGATGCTCTGC CGACACCTCACCCCGGACCCACGAGGGATGCTCTGCCGACACCTCACCCC GGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGAATCATGAGGGA TGCTCTGCCGACACCTCACCCCAGACCCACGAGGGATGCTCTGCCGACAC CCCACCGCGGACCCCCGAGGGATT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	82	0.0122	423	c.218 others(440): Show c.2184+982_2184+983insAATCCCTCGGGGGTCCGCGGTGGGGTGT CGGCAGAGCATCCCTCGTGGGTCTGGGGTGAGGTGTCGGCAGAGCATCCC TCATGATTCCGGGGTGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGG TGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAG AGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTGGTCC AGGGTGAGGCGTCGGCAGAGAATCCCTCGTGGGTCTGGGGTGAGGTGTCG GCAAAGAATTCCTCGGGGTCTGGGGTGGGGTGTCGGCAGAGCATCCCTCA TGGTTCCGGGGCAAGGCGTCGACAGAGCATCCCTCGTGGGTCTGGGGTGA GGTATTGGCAGAGCATCCCTGGTCCGGGGTGAGGTGTCGGCAGAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137322742	G G	GCTCTGCC others(416): Show GCTCTGCCGACACCTCACCCCGGACCAGGGATGCTCTGCCAATACCTCAC CCCAGACCCACGAGGGATGCTCTGTCGACGCCTTGCCCCGGAACCATGAG GGATGCTCTGCCGACACCCCACCCCAGACCCCGAGGAATTCTTTGCCGAC ACCTCACCCCAGACCCACGAGGGATTCTCTGCCGACGCCTCACCCTGGAC CAGGGATGCTCTGCCGACACCTCACCCCGGACCCACGAGGGATGCTCTGC CGACACCTCACCCCGGACCCACGAGGGATGCTCTGCCGACACCTCACCCC GGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGAATCATGAGGGA TGCTCTGCCGATACCCCACCCCAGACCCACGAGGGATGCTCTGCCGACAC CCCACCGCGGACCCCCGAGGGATT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	82	0.0122	423	c.218 others(440): Show c.2184+982_2184+983insAATCCCTCGGGGGTCCGCGGTGGGGTGT CGGCAGAGCATCCCTCGTGGGTCTGGGGTGGGGTATCGGCAGAGCATCCC TCATGATTCCGGGGTGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGG TGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAG AGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTGGTCC AGGGTGAGGCGTCGGCAGAGAATCCCTCGTGGGTCTGGGGTGAGGTGTCG GCAAAGAATTCCTCGGGGTCTGGGGTGGGGTGTCGGCAGAGCATCCCTCA TGGTTCCGGGGCAAGGCGTCGACAGAGCATCCCTCGTGGGTCTGGGGTGA GGTATTGGCAGAGCATCCCTGGTCCGGGGTGAGGTGTCGGCAGAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137322742	G G	GCTCTGCC others(416): Show GCTCTGCCGACACCTCACCCCGGACCAGGGATGCTCTGCCAATACCTCAC CCCAGACCCACGAGGGATGCTCTGTCGACGCCTTGCCCCGGAACCATGAG GGATGCTCTGCCGACACCCCACCCCAGACCCCGAGGAATTCTTTGCCGAC ACCTCACCCCAGACCCACGAGGGATTCTCTGCCGACGCCTCACCCTGGAC CAGGGATGCTCTGCCGACACCTCACCCCGGACCCACGAGGGATGCTCTGC CGACACCTCACCCCGGACCCACGAGGGATGCTCTGCCGACACCTCACCCC GGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGAATCATGAGGGA TGCTCTGCCGATACCTCACCCCAGACCCACGAGGGATGCTCTGCCGACAC CCCACCGCGGACCCCCGAGGGATT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02615.hp2 HG02896.hp2 others(3): Show HG01993.hp1 HG02615.hp2 HG02896.hp2 HG02922.hp2 HG03017.hp2 HG03669.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 others(1): Show a0001c0001 a0002c0002 a0004c0007 a0004c0009	a0001c0001t0001 a0002c0002t0001 a0004c0007t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0004c0007t0001 a0004c0009t0001	a0001c0001t0001g0016 a0001c0001t0001g0082 a0002c0002t0001g0045 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0082 a0002c0002t0001g0045 a0004c0007t0001g0002 a0004c0007t0001g0023 a0004c0009t0001g0065	6	82	0.0732	423	c.218 others(440): Show c.2184+982_2184+983insAATCCCTCGGGGGTCCGCGGTGGGGTGT CGGCAGAGCATCCCTCGTGGGTCTGGGGTGAGGTATCGGCAGAGCATCCC TCATGATTCCGGGGTGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGG TGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAG AGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTGGTCC AGGGTGAGGCGTCGGCAGAGAATCCCTCGTGGGTCTGGGGTGAGGTGTCG GCAAAGAATTCCTCGGGGTCTGGGGTGGGGTGTCGGCAGAGCATCCCTCA TGGTTCCGGGGCAAGGCGTCGACAGAGCATCCCTCGTGGGTCTGGGGTGA GGTATTGGCAGAGCATCCCTGGTCCGGGGTGAGGTGTCGGCAGAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137322742	G G	GCTCTGCC others(416): Show GCTCTGCCGACACCTCACCCCGGACCAGGGATGCTCTGCCAATACCTCAC CCCAGACCCACGAGGGATGCTCTGTCGACGCCTTGCCCCGGAACCATGAG GGATGCTCTGCCGACACCCCACCCCAGACCCCGAGGAATTCTTTGCCGAC ACCTCACCCCAGACCCACGAGGGATTCTCTGCCGACGCCTCACCCTGGAC CAGGGATGCTCTGCCGACACCTCACCCCGGACCCACGAGGGATGCTCTGC CGACACCTCACCCCGGACCCACGAGGGATGCTCTGCCGACACCTCACCCC GGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGACCCACGAGGGA TGCTCTGCCGACACCCCACCCCGGACCCCCGAGGGATGCTCTGCCGACAC CCCACCGCGGACCCCCGAGGGATT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0006 a0012c0012t0001g0006	1	82	0.0122	423	c.218 others(440): Show c.2184+982_2184+983insAATCCCTCGGGGGTCCGCGGTGGGGTGT CGGCAGAGCATCCCTCGGGGGTCCGGGGTGGGGTGTCGGCAGAGCATCCC TCGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGG TGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAG AGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTGGTCC AGGGTGAGGCGTCGGCAGAGAATCCCTCGTGGGTCTGGGGTGAGGTGTCG GCAAAGAATTCCTCGGGGTCTGGGGTGGGGTGTCGGCAGAGCATCCCTCA TGGTTCCGGGGCAAGGCGTCGACAGAGCATCCCTCGTGGGTCTGGGGTGA GGTATTGGCAGAGCATCCCTGGTCCGGGGTGAGGTGTCGGCAGAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137322742	G G	GCTCTGCC others(416): Show GCTCTGCCGACACCTCACCCCGGACCAGGGATGCTCTGCCAATACCTCAC CCCAGACCCACGAGGGATGCTCTGTCGACGCCTTGCCCCGGAACCATGAG GGATGCTCTGCCGACACCCCACCCCAGACCCCGAGGAATTCTTTGCCGAC ACCTCACCCCAGACCCACGAGGGATTCTCTGCCGACGCCTCACCCTGGAC CAGGGATGCTCTGCCGACGCCTCACCCCGGACCCACGAGGGATGCTCTGC CGACACCTCACCCCGGACCCACGAGGGATGCTCTGCCGACACCTCACCCC GGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGACCCACGAGGGA TGCTCTGCCGACACCCCACCCCGGACCCACGAGGGATGCTCTGCCGACAC CCCACCGCGGACCCCCGAGGGATT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG04184.hp2 HG02965.hp1 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0048 a0002c0002t0001g0028 a0002c0002t0001g0048	2	82	0.0244	423	c.218 others(440): Show c.2184+982_2184+983insAATCCCTCGGGGGTCCGCGGTGGGGTGT CGGCAGAGCATCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGAGCATCCC TCGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGG TGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAG AGCATCCCTCGTGGGTCCGGGGTGAGGCGTCGGCAGAGCATCCCTGGTCC AGGGTGAGGCGTCGGCAGAGAATCCCTCGTGGGTCTGGGGTGAGGTGTCG GCAAAGAATTCCTCGGGGTCTGGGGTGGGGTGTCGGCAGAGCATCCCTCA TGGTTCCGGGGCAAGGCGTCGACAGAGCATCCCTCGTGGGTCTGGGGTGA GGTATTGGCAGAGCATCCCTGGTCCGGGGTGAGGTGTCGGCAGAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(416): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGAAAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCA AGTTCCTATCACTGTGAGTTAGGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp1 HG02572.hp2 HG02809.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0261 a0002c0003t0001g0264 a0002c0003t0001g0261 a0002c0003t0001g0264	2	346	0.0058	423	c.-76 others(440): Show c.-76-3080_-76-3079insAAAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(416): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGAAAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCTCA AGTTCCTATCACTGTGAGTTAGGC	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	346	0.0029	423	c.-76 others(440): Show c.-76-3080_-76-3079insAAAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCTCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM3B_chr21_41311801_41362727	41313428	A A	AATTTGAT others(416): Show AATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCAT TTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTG ATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATC CATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATCCAT TCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATCCATTCT TGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATCCATTCTTGA ACCTCATCATACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAACC TCATCATACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAACCTCA TCATACAGTATGTATGCATGTCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	314	0.0032	423	c.-34 others(434): Show c.-3452_-3451insATTTGATCCATTCTTGAACCTCATCATACAGTAT GTATGCATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTA TGCATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGC ATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATG TCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCG CATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCAT TTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTG ATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATC CATTCTTGAACCTCATCATACAGTATGTATGCATGTCGC	FAM3B	ENSG00000183844.17	transcript	ENST00000357985.7	protein_coding		3372		chr21	TogoVar
FAM3B_chr21_41311801_41362727	41313428	A A	AATTTGAT others(416): Show AATTTGATCCATTCTTGAACCTCATGATACAGTATGTATGCATGTCGCAT TTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTG ATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATC CATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATCCAT TCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATCCATTCT TGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATCCATTCTTGA ACCTCATGATACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAACC TCATGATACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAACCTCA TGATACAGTATGTATGCATGTCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0102 a0002c0003t0007g0102	1	314	0.0032	423	c.-34 others(434): Show c.-3452_-3451insATTTGATCCATTCTTGAACCTCATGATACAGTAT GTATGCATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTA TGCATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGC ATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATG TCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCG CATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCAT TTGATCCATTCTTGAACCTCATGATACAGTATGTATGCATGTCGCATTTG ATCCATTCTTGAACCTCATGATACAGTATGTATGCATGTCGCATTTGATC CATTCTTGAACCTCATGATACAGTATGTATGCATGTCGC	FAM3B	ENSG00000183844.17	transcript	ENST00000357985.7	protein_coding		3372		chr21	TogoVar
FSIP1_chr15_39595031_39787841	39702423	T T	TAAAACTA others(416): Show TAAAACTACTTTTTTTTTTTTTTTTTTCTATCAAATGTGGTTTTTTTATT CAACAACTGACAAGCACTTTTCTACAGCTGCACTTGTGGAACATCACATG GCAAAAACAGGAGTTTTTTCGCTAGACTTTTTTCTTTTTAACCTTATTAA AAATGAGATTGGTCCTAAAAATATAGAAAGAAATAAATTTAAATTCACAA AAAACTGTACATTATCAAAAAGTCACTAAAACACCACATTTGGTTATATA AAAAGTCCCTTTTGCTGTAAAAGGAACACAGAAACTTGTTGGTGTTGATG GTGTGGTTTCTTCCTGTCAACCAGACTGATGGGAGGGAAGCAAAAGGGCA GGGGGTGGGTTGTCTTTTTATTTTAAACCTGCTTTCCCTACCAAATACTC TTGAGCTAGGTGGATTTTCTCTTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00609.hp1 others(45): Show HG00544.hp1 HG00597.hp1 HG00609.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01496.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02132.hp1 HG02165.hp2 HG02293.hp1 HG02523.hp1 HG02630.hp1 HG02886.hp2 HG03017.hp1 HG03225.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18947.hp1 NA18960.hp1 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18981.hp1 NA18984.hp2 NA18989.hp2 NA18990.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19003.hp1 NA19005.hp2 NA19056.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19081.hp1 NA19084.hp1 NA19087.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0007 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0007 a0002c0002t0001 a0003c0003t0002 a0003c0003t0006 a0003c0003t0008 a0003c0003t0011	a0001c0001t0001g0114 a0001c0001t0001g0161 a0001c0001t0001g0172 others(45): Show a0001c0001t0001g0114 a0001c0001t0001g0161 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0007g0235 a0001c0001t0007g0236 a0002c0002t0001g0055 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0218 a0002c0002t0001g0220 a0002c0002t0001g0224 a0002c0002t0001g0228 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0003c0003t0002g0090 a0003c0003t0002g0195 a0003c0003t0006g0005 a0003c0003t0008g0028 a0003c0003t0011g0006	48	254	0.1890	423	c.118 others(444): Show c.1188+11020_1188+11021insGAAGAGAAAATCCACCTAGCTCAA GAGTATTTGGTAGGGAAAGCAGGTTTAAAATAAAAAGACAACCCACCCCC TGCCCTTTTGCTTCCCTCCCATCAGTCTGGTTGACAGGAAGAAACCACAC CATCAACACCAACAAGTTTCTGTGTTCCTTTTACAGCAAAAGGGACTTTT TATATAACCAAATGTGGTGTTTTAGTGACTTTTTGATAATGTACAGTTTT TTGTGAATTTAAATTTATTTCTTTCTATATTTTTAGGACCAATCTCATTT TTAATAAGGTTAAAAAGAAAAAAGTCTAGCGAAAAAACTCCTGTTTTTGC CATGTGATGTTCCACAAGTGCAGCTGTAGAAAAGTGCTTGTCAGTTGTTG AATAAAAAAACCACATTTGATAGAAAAAAAAAAAAAAAAAAGTAGTTTT	FSIP1	ENSG00000150667.8	transcript	ENST00000350221.4	protein_coding	10/11			chr15	TogoVar
GABRG3_chr15_26966181_27546984	27388163	G G	GTGGGAGG others(416): Show GTGGGAGGGAGGGTAAGGAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAAG GAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAG GGAGGAGGGAGGGAGGAAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAG GAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGGGAGGAGGGAGGGAGGA AAGGAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGG AAAGGAGGAAGGAAGGAAAGGGAGGAGGGAGGGAGGAAAGGAAGGAAGGA AGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGAAAGGAAGGAAGGA AGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAGGAGGAAGGA AGGAAAGGGAGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0011 a0001c0003t0014g0011	1	92	0.0109	423	c.574 others(442): Show c.574+59275_574+59276insTGGGAGGGAGGGTAAGGAAGGAAGGA AGAAAGGAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGA AGGAAAGGAGGAAGGAAGGAAAGGGAGGAGGGAGGGAGGAAAGGAAGGAA GGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAGGAGGAAGGAA GGAAAGGGAGGAGGGAGGGAGGAAAGGAAGGAAGGAAGGAAAGGAGGGAG GGAGGGTAAGGAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGGGAGGAG GGAGGGAGGAAAGGAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAA GGAAGGAAGAAAGGAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAA GGAAGGAAGGAAAGGAGGAAGGAAGGAAAGGGAGGAGGGAGGGAGGA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9			chr15	TogoVar

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