Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
IFT140_chr16_1505427_1617072	1599504	G G	GTCCGGGA others(919): Show GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGG GTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGT CAGCCCTCCGTCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCC TGTCCGGGAGGGAGGTGGGGGGGGGGCCAGCCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCGGGCCAGCCACCCCGTCAGGGAGGGAGGTGGGG GGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGT GTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTG TCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CGGCCCCCCGCCTGGCCAGCCTTCCCA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0003 a0006c0007t0003	a0006c0007t0003g0164 a0006c0007t0003g0164	1	334	0.0030	926	c.369 others(943): Show c.369+2865_369+2866insTGGGAAGGCTGGCCAGGCGGGGGGCCGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACA CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCTGACGGGGTGGCTGGCCCGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCACCTCCCTCCCGGACAG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGAGGGCTGA CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599504	G G	GTCCGGGA others(919): Show GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGG TCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTC AGCCCTCCGTCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCT GTCCGGGAGGGAGGTGGGGGGGGGGGCCAGCCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCGGGCCAGCCACCCCGTCAGGGAGGGAGGTGGGG GGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGT GTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTG TCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CGGCCCCCCGCCTGGCCAGCCTTCCCA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0003 a0006c0007t0003	a0006c0007t0003g0159 a0006c0007t0003g0159	1	334	0.0030	926	c.369 others(943): Show c.369+2865_369+2866insTGGGAAGGCTGGCCAGGCGGGGGGCCGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACA CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCTGACGGGGTGGCTGGCCCGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGAGGGCTG ACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC CCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(919): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGA GGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGA GGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGG GAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAG GAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAG AGAGGGGCAGGGAGGACGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGA GGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGG ACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCA GGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	204	0.0049	926	c.978 others(943): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGG CAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAG GAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGG AGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGA AACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGG AGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCA GGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGA GGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAG GGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INS_chr11_2154779_2166209	2161948	C C	CACCCCTG others(919): Show CACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCT ATCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCA CACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCC TGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCA CACCCCTGTCCCCCGGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCC TGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC ACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCCGGACCCC TGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC ACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCC TGTCCCCAGACCCCTATCCCCAGACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGGACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTA TCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACA CCCCTGTCCCCAGGACCCTGTCCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	376	0.0027	926	c.-79 others(935): Show c.-799_-798insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGT GGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTG GGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGACAGGGGTCTGGGGATAGGGGTCTGGGGACAGGGGTCCTG GGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGG GGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCCGG GGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGG GGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGG GGACAGGGGTCCTGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGATAG GGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGG GGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGG GGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAG GGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTG GGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		740		chr11	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400231	C C	CCCTCCCC others(919): Show CCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTC CTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGC CCTCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCC TCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTG CCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCC CTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCC TCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGC CCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCC TTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTG CCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTC CTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCC CTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCC TGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCC CCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCCT CCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCT CCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTC CTACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGC CCCCTCCCCTCCTGCCCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0168 a0001c0001t0168	a0001c0001t0168g0019 a0001c0001t0168g0019	1	276	0.0036	926	c.66 others(937): Show c.6602_*6603insAGGGGAGGGGGGGCAGGAGGGGAGGGGGCAGGAG GGCATGAGGGGAGGAGGGGAGGGGGCAGGAGGGGAGGGGGTAGGAAGGGA GGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGGAGGGGAGGGGGAGGGGTA CAGGAGGGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGCAGGAGGGCAG GAGGGGAAGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGGG GGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGC AGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGG GGCAGGAGGGGAGGGGGGCAGGAGGGGAGGGGGGCAGGAGGGGAAGGGGG CAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGA GGGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGG GGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCA GGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGGCAGGAG GGCAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCA GGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGG GGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGG GGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAGG GGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGAGGGCAGGAG GGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGA GGGGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3243		chr2	TogoVar
KIRREL3_chr11_126418358_127005770	126632693	G G	GCCTCCTT others(919): Show GCCTCCTTCCCTGTGCAGCTGCTTTTCTGTCCTGCCCAAGAGCAGCCCTG GGGAGGGGGCAATTGAGTGAGGGACTGCGAATGCCAGAAAACATGGGTGA GAAGCATGTCCGCACCTCCCACCCAACCTGGTGGGAATCCTGTAAAGCCT GCCTGAACTCTTGTTCATATCGTTGCTGCATACTGGGCATTGGGAGATAA AAATTGATGAGGAGACATTAGTATACTTGTTACAGCAGTGGCTAATATGC AGTGGAGGAGGCTTGTGGGGAGAGAGAGAGAGAGAGAGAAAAGAAGAAGA AAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAAGGAAGGAACGGTAGCGGCTATCCAAGGTGCGGACAACAGCCCTTA TAGCCCTTATGCAGCTCAGATGCCCACTCCATGACAGGTATGAGCTGACC TGGGCATGCATTCTCTGCAGGGAGACAATTACTGTTGCTGTGTGTGACAG GGTTGATACATCCTGCTGAAGGTAGGCATCTCTGTGTTTCCTTATTTTGT AATCCTTTCAAGCCTTCTGAATCCAGCCTCTGTCTCCAGCTGTCCAGTTC TGGACAAGCCTGCTACTCAGTGGAACCCCTCGTTTCTACCCCCAGGTGGT CTAGGCACTGAGGCTACAGAGGGCTATAAGGGCTGTTGTCCGCACCTTGG ATAGCCGCTACCGTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCT CCTTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTT CTCTCTCTCTCTCTCTCTCCCCACAAA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	114	0.0088	926	c.56- others(943): Show c.56-69782_56-69781insTTTGTGGGGAGAGAGAGAGAGAGAGAGA AAAGAAGAAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGA GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAACGGTAGCGGCTATC CAAGGTGCGGACAACAGCCCTTATAGCCCTCTGTAGCCTCAGTGCCTAGA CCACCTGGGGGTAGAAACGAGGGGTTCCACTGAGTAGCAGGCTTGTCCAG AACTGGACAGCTGGAGACAGAGGCTGGATTCAGAAGGCTTGAAAGGATTA CAAAATAAGGAAACACAGAGATGCCTACCTTCAGCAGGATGTATCAACCC TGTCACACACAGCAACAGTAATTGTCTCCCTGCAGAGAATGCATGCCCAG GTCAGCTCATACCTGTCATGGAGTGGGCATCTGAGCTGCATAAGGGCTAT AAGGGCTGTTGTCCGCACCTTGGATAGCCGCTACCGTTCCTTCCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCCTCCTTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCTTTTT CTTCTTCTTTTCTCTCTCTCTCTCTCTCTCCCCACAAGCCTCCTCCACTG CATATTAGCCACTGCTGTAACAAGTATACTAATGTCTCCTCATCAATTTT TATCTCCCAATGCCCAGTATGCAGCAACGATATGAACAAGAGTTCAGGCA GGCTTTACAGGATTCCCACCAGGTTGGGTGGGAGGTGCGGACATGCTTCT CACCCATGTTTTCTGGCATTCGCAGTCCCTCACTCAATTGCCCCCTCCCC AGGGCTGCTCTTGGGCAGGACAGAAAAGCAGCTGCACAGGGAAGGAGG	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(919): Show TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATATATCCATATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATATCCATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATATCCATATATATATCCATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TCCATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TATCCATATATATATATATCCATATATATATCCATATATATATATATCCA TATATATATCCATATATATATATATCCATATATATATCCATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATCCATATA TATATATATCCATATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0249 a0002c0002t0002g0249	1	284	0.0035	926	c.126 others(943): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATGGATATATATATATATGGATATATATATATGGAT ATATATATATGGATATATATATGGATATATATATATATGGATATATATAT GGATATATATATATATGGATATATATATGGATATATATATATATGGATAT ATATATATATGGATATATATATATATGGATATATATATATGGATATATAT ATATGGATATATATATATATGGATATATATATATGGATATATATATGGAT ATATATATGGATATATATATATGGATATATATATATATGGATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATGGATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATAT GGATATATATATATGGATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATGGATATATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATATGGATATATATATATAT GGATATATATATATATGGATATATATATATATGGATATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATATGGATATATATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
MAN2B2_chr4_6570189_6628362	6579120	C C	CCACCACC others(919): Show CCACCACCACCACCACCATCACCACCACCACCCTTCACCACCACCACCAC CACCACCACCATCACCACCACCACCCTTCACCACCATCACCACCACCACC ATCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCACCACCACCATCACCACCATCACCACCACC ACCATCACCACCACCACCACCATCACCATCACCACCATCACCACCACCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCA TCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCACCATCACCACCACCACCATCACCACCATCACCACCAC CACCATCACCACCACCATCACCATCACCACCACCACCATCACCACCACCA CCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCA CCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACC ATCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ATCACCACCATCACCACCACCACCACCATCACCACCATCACCACCACCAT CACCACCACCACCATCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0250 a0002c0002t0001g0250	1	362	0.0028	926	c.391 others(941): Show c.391+625_391+626insCACCACCACCACCATCACCACCACCACCCT TCACCACCACCACCACCACCACCACCATCACCACCACCACCCTTCACCAC CATCACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCA TCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCATCAC CACCATCACCACCACCACCATCACCACCACCACCACCATCACCATCACCA CCATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ACCACCATCACCACCATCACCACCACCATCACCATCACCACCACCACCAT CACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATCA CCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACCACC ACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCA TCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACC ACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCAC CACCACCACCACCACCATCACCATCACCACCACCACCATCACCACCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATC ACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCATCACCACCATCACCACCACCACCACCATCACCA CCATCACCACCACCATCACCACCACCACCATCACCACCACCATCAC	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(919): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGG AGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGA GGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGG GGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAG AGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAG GAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAG AGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGG GGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGG GAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAG CAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAA AGGGGGAGGAGGCGGAGCAGTAGGGGGAGGAGAGTGAGGAGGGGAAGGAT GGGGAGGAGGGAAAAGAGGAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGA GAAAGAAGAGGAGGAGGAGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAG GGAAGAGGGGGAAAGGAGGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGA AGAGAAAGAGGGGGAGAGGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGA GGAACAGGAGGAAGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01891.hp1 HG01943.hp2 others(4): Show HG00423.hp1 HG01891.hp1 HG01943.hp2 HG03139.hp1 HG03834.hp2 NA19085.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0002t0001 a0003c0004t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0003c0004t0002 a0004c0005t0001	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0136 others(4): Show a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0136 a0001c0001t0001g0256 a0001c0002t0001g0090 a0003c0004t0002g0091 a0004c0005t0001g0117	7	280	0.0250	926	c.641 others(941): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTC CCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTC CCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCT TCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCT CCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTC CCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTC CCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGC CTCCTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(919): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGA GGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAG GGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGG TGTGGAGGGGGGCGCGTGGAGGGGGGGCGTGTGGGGGGGTGCGTGGAGGA GGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGA GGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCG TGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCG TGTGGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGG GGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGG GGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGGAGCGTGG GGGGCGTGGAGGAGGGGCGCGTGGGGGGGGCCGTGTGGGGGGGCGTGGAG GAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGGAGCGTGGGGGGCGT GGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGC GTGTGGAGGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGG GTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTG GAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGC GCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGG GGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGC ACGTGGAGGGGGGCGTGTGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	388	0.0026	926	c.159 others(943): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGT GGAGGGGGGCGCGTGGAGGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGG GCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGA GGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGG AGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGT GGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGGA GCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGC GTGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGGAGCGTGGGGG GCGTGGAGGAGGGGCGCGTGGGGGGGGCCGTGTGGGGGGGCGTGGAGGAG GGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGGAGCGTGGGGGGCGTGGA GGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTG TGGAGGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTG CGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAG GGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCG TGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGC GCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACG TGGAGGGGGGCGTGTGGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16189597	A A	ATATATAT others(919): Show ATATATATAAAATCTTATTTTATATATATTTGATATATATTTTTTATATA TTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAA AATCTTATTTTATATATATTTTATATATATTTTATATATATATAAAATCT TACTTTATATTTTATATATATGAAATCTTACTTTATATATATTTTATATA TATATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTATTTT ATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTT ATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTT ATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATC TTATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATATT TTATATATATATAAAATAAGATTTTATATATATTTTATATATATATAAAA TAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATA TTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATAA AATAAGATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATAAAATAAGATTTTATATATATATATAAAATAAGATTTTATATATATA TAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAA ATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATAT ATAAAATATATATAAAATCTTATTTTATATATATTTTATATATATATAAA ATCTTATTTTATATATATATAAAATCTTATTTTATATATATTTTATATAT ATATAAAATCTTATTTTATATATATTT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0330 a0001c0001t0049g0330	1	330	0.0030	926	c.-5+ others(941): Show c.-5+3000_-5+3001insAAATATATATAAAATAAGATTTTATATATA TATAAAATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTT ATATATATATAAAATATATATAAAATAAGATTTTATATATATTTTATATA TATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATTTT ATATATATATAAAATCTTATTTTATATATATATAAAATCTTATTTTATAT ATATATAAAATCTTATTTTATATATATATATAAAATCTTATTTTATATAT ATAAAATATATATAAAATCTTATTTTATATATATATAAAATCTTATTTTA TATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAATAT ATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTT TATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAAT ATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATAAGAT TTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAA ATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAG ATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATAAA ATAAGATTTTATATATATAAAATATATATAAAGTAAGATTTTATATATAT ATAAAATATATATAAAGTAAGATTTCATATATATAAAATATAAAGTAAGA TTTTATATATATATAAAATATATATAAAATATATATAAAATAAGATTTTA TATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATAT ATAAAAAATATATATCAAATATATATAAAATAAGATTTTATATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(919): Show TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATATATAGTAACTATATTAATATAGTTAGTATATATTAATATATAGT AACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA TAATATAGTTAGTATATTAATATATAGTAACTATATTAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0258 a0002c0002t0001g0258	1	422	0.0024	926	c.195 others(943): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATT ATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGT TACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAA TATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTA TATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATAT ACTAACTATATTAATATAGTTACTATATATTAATATACTAACTATATTAT TAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTA CTATATATTAATATATACTAACTATATTAATATAGTTACTATATATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TGTCTCCT others(919): Show TGTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCACCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCTT CCCCTTCCCCTCCCCTCCCCCTTCCCCCTCCCCTCCCCTCCCCCTTCCCC TCCCCTCCCCCTTCCCCTCCCCTCCCCCTCCCCCTTCCCTCTCCCCTTCC CCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCC TTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0295 a0001c0001t0005g0295	1	326	0.0031	926	c.433 others(943): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGGAGGG GAAGGGGAGAGGGAAGGGGGAGGGGGAGGGGAGGGGAAGGGGGAGGGGAG GGGAAGGGGGAGGGGAGGGGAGGGGGAAGGGGGAGGGGAGGGGAAGGGGA AGGGGGAGGGGAGGGGAGGGGAGAGGGGAGGGTGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAC	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(919): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGAGAGAAGGGGATGG GGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGGG AGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGGG GAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGAG AGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAGAA GGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAG GGGGAGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAG GAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGG GGAGGGGGGGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAG GGGGAGGAGGGGGAGAGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAG GGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAGAGAGAGGGCGAG AGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAGGGCGAGTGAGAG AGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAGGGTGGGCAAGAG AGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGAGAGAGGGCGGGCG AGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAGAGAGAGGGTGGG CAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAG AGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGAGAGGGCGAGAGGGAG AGAGAGGGAGAGGGCGAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAG AAAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0127 a0004c0005t0001g0127	1	308	0.0033	926	c.371 others(943): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTTTCTCTCCCTCTTTCTCTCCCTCTCGCCCTCTCCCTCTCTC TCCCTCTCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTC TTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGC CCACCCTCTCTCTCTCTCACCCGCCCTCTCTCTCGCCTGCCCTCTCTCTC GCCCGCCCTCTCTCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCCTCTCTC TCTTGCCCACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCCCTCTCTC TCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTCTCACCCGCCCTCTCTC TCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCTCTCCCCCTCCTCCCCC TCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCTCTCCCCCTCCTCCCCC TCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCCTCCC CCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCC TCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCTCCCCC TCCTCCACCTCTCCCCCTCTCCCCCTCCTCCCCCTCCCCTTCTCTCCCCT TCTCTCCCCTTCTCTCCCCCTCTCCCCCTCTCCTTTTCTCTCCCCCTCTC TCCCCTCCCCCTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCC CCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTC CCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCC CATCCCCTTCTCTCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(919): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGA GAGGTGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGG GAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGG GGGAGAGGGGGAGGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAGGG GGAGAGGGGGAGGGGGAGGAGGGGGAGAGGGGAGGAGGGGGAGAGGGGGA GGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAG AGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAG GGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAG GGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGAG AGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAG AGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAG AGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGAGAG GGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGAAAGAGGGAGAG AAAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0062 a0001c0062	a0001c0062t0001 a0001c0062t0001	a0001c0062t0001g0043 a0001c0062t0001g0043	1	308	0.0033	926	c.371 others(943): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTTTCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCC TCTCACTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTC TCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTC TCTCTCACCCGCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTC TCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCC TCTCTTTCTCTCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCC TCTCTCTCTCACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTC TTGCCCCTTCCCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCT CCCCCTCTCCCCCTCCTCCCCTCTCCCCCTCCTCCCCCTCCCCCTCTCCC CCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCC CTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCTCC CCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCACCTCT CCCCCTCTCCCCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTC TCTCCCCTTCTCTCCCCCTCTCCCCCTCTCCTTTTCTCTCCCCCTCTCTC CCCCTCCCCCTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCC CCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCC CCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCC ATCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492423	C C	CTCCCGGG others(919): Show CTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGC CGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGA GACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGC CCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCG GGGAGACCCGAGGCCGCCCAGGGCCCT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	295	0.0034	926	c.126 others(945): Show c.1265+3427_1265+3428insGGGAGACCCGAGGCCGCCCAGGGCCC TTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCC GCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAG ACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTTCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492460	G G	GGGGAGAC others(919): Show GGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCC AGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACC CGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCC TCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCC GCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGG AGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGG GCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCCCCCCGGGAGACCCG AGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTC CCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGGAGACCCGAGGCCG CCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGA GACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGG CCCCCCCCGGGAGACCCGAGGCCGCCCAGAGCCTTCCCGGGAGACCCGAG GCCGCCCAGGGCCCCCCCCGGGAGACCCGAGGCCGCCCAGGGCCCCCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGCCC TTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGC CGCCCAGGGCCCCCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGG AGACCCGAGGCCGTCCAGGGCCCCCCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0082 a0001c0001t0007g0082	1	295	0.0034	926	c.126 others(945): Show c.1265+3476_1265+3477insTCCAGAGCCCTCCCGGGAGACCCGAG GCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCG GGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCC AGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACC CGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCT TCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCC GCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCCCCCCGGG AGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGG GCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGGAGACCC GAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCT CCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCCG TCCAGGGCCCCCCCCGGGAGACCCGAGGCCGCCCAGAGCCTTCCCGGGAG ACCCGAGGCCGCCCAGGGCCCCCCCCGGGAGACCCGAGGCCGCCCAGGGC CCCCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCC AGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGAC CCGAGGCCGCCCAGGGCCCCCCCGGGAGACCCGAGGCCGTCCAGAGCCCT TCCCGGGAGACCCGAGGCCGTCCAGGGCCCCCCCGGGAGACCCGAGGCCG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(919): Show TATGTAATACACAATATACATTATATAATATGTAATACACAATATACATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATATGTAATACACAATATATATTATATAATATGTAATACACAATATATA TTATATAATAATATGTAATACACAATATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAT GTAATACACAATATATTATATAATATGTAATACACAATATATTATATAAT AATATGTAATACACAATATATTATATAATAATATGTAATACACAATATAT TATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACATTATACATTATTATATAAGTATATGTAATACATTATACATTATTATA TAAGTATATGTAATATATATTATACATTATTATATAAGTATATGTAATAT ATATTATACATTATTATATAAGCATATAATATATAATACATAATACATTA TATATAAGCATATAACAATACATAATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0120 a0001c0001t0023g0120	1	220	0.0046	926	c.24+ others(943): Show c.24+14101_24+14102insATGTAATACACAATATACATTATATAAT ATGTAATACACAATATACATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATATGTAATACACAATATATATTATATA ATATGTAATACACAATATATATTATATAATAATATGTAATACACAATATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATATGTAATACACAATATATTATATAATATGTA ATACACAATATATTATATAATAATATGTAATACACAATATATTATATAAT AATATGTAATACACAATATATTATATAATAATATGTAATACACAATATAT TATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACATTATACATTATTATATAAGTATATGT AATACATTATACATTATTATATAAGTATATGTAATATATATTATACATTA TTATATAAGTATATGTAATATATATTATACATTATTATATAAGCATATAA TATATAATACATAATACATTATATATAAGCATATAACAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(919): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACACAATATATTATATAATAATATGTAATACATTATACATTATTATA TAAGTATATGTAATACATTATACATTATTATATAAGTATATGTAATATAT ATTATACATTATTATATAAGCATATGTAATATATATTATACATTATTATA TAAGCATATAATATATAATACATAATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	220	0.0046	926	c.24+ others(943): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACATTATACATTATTATATAAGTATATGTAATACATTATACATTATT ATATAAGTATATGTAATATATATTATACATTATTATATAAGCATATGTAA TATATATTATACATTATTATATAAGCATATAATATATAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
SDHA_chr5_213320_262082	261646	A A	AGAGCATT others(919): Show AGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAG CTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGACAGAG CATTACCGTGTGAGCTCCGCCCCCCGTCAGAGCATTACCGTGTGAGCTCC GCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATT ACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCT CCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCG TGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCG TCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTG AGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC AGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCT CCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCA TTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGC CTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCCGCAGAGCATTAC CGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCC CGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTG TGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGC AGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAG CTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAG CATTACCGTGTGAGCTCCGCCTCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	266	0.0038	926	c.52 others(937): Show c.5226_*5227insGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGA GCATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTC CGCCCCCCGACAGAGCATTACCGTGTGAGCTCCGCCCCCCGTCAGAGCAT TACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCC TCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACC GTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCC GTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGT GAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCA CAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGC TCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGC ATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCG CCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTA CCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTC CCCGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGT GTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGG CAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGA GCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGA GCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTC CGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4565		chr5	TogoVar
SDK1_chr7_3296252_4274000	3977260	C C	CCACGCAG others(919): Show CCACGCAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCGAGGCTGCCACGCAGACGGTCCTCCAGAGAATCACTGGGG GTCCCGGGGCTGAGGCTGCCACACAGAGGGCCCTCCAGAGAATCACTGAG GGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGG GGGTCCCGGGGCTGAGGCTGCCACACAGGGGGCCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GGGGGTCCCGGGGCTGAGGCTGCCACACAGGGGGCCCTCCAGAGAATCAC TGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACACAGAGGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTC CAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0034 a0034	a0034c0081 a0034c0081	a0034c0081t0008 a0034c0081t0008	a0034c0081t0008g0075 a0034c0081t0008g0075	1	116	0.0086	926	c.199 others(945): Show c.1994+2715_1994+2716insCACGCAGACGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACGCAGAC GGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGA GGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAG AGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACA GGGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGC AGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACA CAGGGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGA GGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SLC5A8_chr12_101150493_101215238	101180717	T T	TAAAAAAA others(919): Show TAAAAAAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCAATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAG AAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGA TGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTC TCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTC ATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATAT CACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATT GGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAG CATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTAC CCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAATAATAATAATAATA ATAATAATTTAAGATGTACATATATTCCATCAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	375	0.0027	926	c.116 others(943): Show c.1166-622_1166-621insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGATGGAATATATGTACATCTTAAATTATTATT ATTATTATTATTATTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGG TACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGC TGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCA ATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGA TATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATG AGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAG AATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCAT CATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTC TTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGC TATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGC AGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGG TCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATTGCCACACTGACTT CCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTC CTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATG ATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTG CATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGG CTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTTTTT	SLC5A8	ENSG00000256870.3	transcript	ENST00000536262.3	protein_coding	9/14			chr12	TogoVar
TH_chr11_2158929_2176815	2161948	C C	CACCCCTG others(919): Show CACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCT ATCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCA CACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCC TGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCA CACCCCTGTCCCCCGGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCC TGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC ACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCCGGACCCC TGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC ACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCC TGTCCCCAGACCCCTATCCCCAGACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGGACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTA TCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACA CCCCTGTCCCCAGGACCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0038 a0001c0009t0001g0038	1	388	0.0026	926	c.22 others(937): Show c.2284_*2285insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCC TGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTCTGGGGATAGGGGTCTGGGGACAGGGGTCC TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCC GGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGT GGGGACAGGGGTCCTGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGAT AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGT GGGGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGT GGGGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTG TGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		1980		chr11	TogoVar
TMC6_chr17_78102397_78133755	78115744	G G	GGCGAAGG others(919): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCAGAGAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAG CGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGA GTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCAC AGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGA AGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTG GGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGG GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0136 a0002c0002t0010g0136	1	444	0.0023	926	c.227 others(945): Show c.2277+1524_2277+1525insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTCTCTG CCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCC CTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCC CTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCC ACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTT CGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM192_chr4_165065608_165117860	165116330	T T	TAGTTCAG others(919): Show TAGTTCAGCATTTTTTTTTTTTCTTTTGAGACTCAGTCTTGCTTTGTGGT CCAGGCTGGAGTGCAGTGGCATGGTCTCAGCTCACTGCTACCTCCACCTC CCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTAC AGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAAAGGCGA CATTCCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGAT CTGCCCACCTCTACTTTCAAAAGTGCTGGGATTACAGGCATGAGCCACCA CTCCTGGCCAGCAATTTTTTTCTTCTGCAGTTTGAAAATTTTCAAAATAA AGTCAAAAGGGAAAAGATAGGCTAAAGAGCTTGCTTACACTTTAGGGTAG GAATAATCTGTGATTGCCTGGTATAAGCCAGAAGAAAGAAATGGTATCAG GAAATAGAATTCTGAACTTTACAAGGTTTAATAGAAGGAGATTGGTGGAG CTGGAGAGTGAGGTTGTCAGACGGAGAGGTGCAATTCAGTAGGAGACCTT GACCACTGGGAAAAATGATGAGTGGGAGAAAAGGATGTTCTCTGAAAAAT CATGGGTGACTCTACAGAAGGAAGAAGGGGAACAAGATCCACTTTGTCTT ACCATTTGGTTTAGACCTTGTCTTGCAAGAATAGGTGCTATTTCATGTTT AGTGTGTTCAGGTGAAAAGTTAAAGGAAAGTATATAATTGCCACTAAAAG TCATCCATATTCTTTCTCAGGGAATATATGCAGAAACAATGGGTTAGGTG CAGGAATAGGATTCTGTGGAACTCTGTCCAAAATGTACCCCTCCTCGCAA TATATTTGTTTAGTACTTCAGGCATAGATAATATACAGGAATTAAAACTT AGTCCACACAGGGAAATAGTATTTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0215 a0001c0002t0002g0215	1	330	0.0030	926	c.-35 others(937): Show c.-3558_-3557insTTTAAATACTATTTCCCTGTGTGGACTAAGTTTT AATTCCTGTATATTATCTATGCCTGAAGTACTAAACAAATATATTGCGAG GAGGGGTACATTTTGGACAGAGTTCCACAGAATCCTATTCCTGCACCTAA CCCATTGTTTCTGCATATATTCCCTGAGAAAGAATATGGATGACTTTTAG TGGCAATTATATACTTTCCTTTAACTTTTCACCTGAACACACTAAACATG AAATAGCACCTATTCTTGCAAGACAAGGTCTAAACCAAATGGTAAGACAA AGTGGATCTTGTTCCCCTTCTTCCTTCTGTAGAGTCACCCATGATTTTTC AGAGAACATCCTTTTCTCCCACTCATCATTTTTCCCAGTGGTCAAGGTCT CCTACTGAATTGCACCTCTCCGTCTGACAACCTCACTCTCCAGCTCCACC AATCTCCTTCTATTAAACCTTGTAAAGTTCAGAATTCTATTTCCTGATAC CATTTCTTTCTTCTGGCTTATACCAGGCAATCACAGATTATTCCTACCCT AAAGTGTAAGCAAGCTCTTTAGCCTATCTTTTCCCTTTTGACTTTATTTT GAAAATTTTCAAACTGCAGAAGAAAAAAATTGCTGGCCAGGAGTGGTGGC TCATGCCTGTAATCCCAGCACTTTTGAAAGTAGAGGTGGGCAGATCACTT GAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGGAATGTCGCCTT TACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAATCC CAGCTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGG AGGTAGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGACCACAA AGCAAGACTGAGTCTCAAAAGAAAAAAAAAAAATGCTGAACT	TMEM192	ENSG00000170088.14	transcript	ENST00000306480.11	protein_coding		3471		chr4	TogoVar
TMEM192_chr4_165065608_165117860	165116330	T T	TAGTTCAG others(919): Show TAGTTCAGCATTTTTTTTTTTTCTTTTGAGACTCAGTCTTGCTTTGTGGT CCAGGCTGGAGTGCAGTGGCATGGTCTCAGCTCACTGCTACCTCCACCTC CCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTAC AGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAAAGGCGA CGTTCCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGAT CTGCCCACCTCTACTTTCAAAAGTGCTGGGATTACAGGCATGAGCCACCA CTCCTGGCCAGCAATTTTTTTCTTCTGCAGTTTGAAAATTTTCAAAATAA AGTCAAAAGGGAAAAGATAGGCTAAAGAGCTTGCTTACACTTTAGGGTAG GAATAATCTGTGATTGCCTGGTATAAGCCAGAAGAAAGAAATGGTATCAG GAAATAGAATTCTGAACTTTACAAGGTTTAATAGAAGGAGATTGGTGGAG CTGGAGAGTGAGGTTGTCAGACGGAGAGGTGCAATTCAGTAGGAGACCTT GACCACTGGGAAAAATGATGAGTGGGAGAAAAGGATGTTCTCTGAAAAAT CATGGGTGACTCTACAGAAGGAAGAAGGGGAACAAGATCCACTTTGTCTT ACCATTTGGTTTAGACCTTGTCTTGCAAGAATAGGTGCTATTTCATGTTT AGTGTGTTCAGGTGAAAAGTTAAAGGAAAGTATATAATTGCCACTAAAAG TCATCCATATTCTTTCTCAGGGAATATATGCAGAAACAATGGGTTAGGTG CAGGAATAGGATTCTGTGGAACTCTGTCCAAAATGTACCCCTCCTCGCAA TATATTTGTTTAGTACTTCAGGCATAGATAATATACAGGAATTAAAACTT AGTCCACACAGGGAAATAGTATTTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00558.hp2 others(43): Show HG00099.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01255.hp1 HG01261.hp1 HG01928.hp2 HG02015.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02300.hp2 HG02622.hp2 HG02723.hp1 HG03491.hp1 HG04228.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18959.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18987.hp1 NA18993.hp2 NA19000.hp1 NA19007.hp2 NA19010.hp2 NA19043.hp1 NA19060.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19082.hp2 NA19086.hp2 NA19091.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(22): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0019 a0001c0001t0066 a0001c0001t0093 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0002t0016 a0001c0002t0017 a0001c0002t0028 a0001c0002t0029 a0001c0002t0031 a0001c0002t0042 a0001c0002t0058 a0001c0002t0059 a0001c0002t0060 a0001c0002t0068 a0001c0002t0073 a0001c0002t0079 a0001c0002t0108	a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0008g0312 others(42): Show a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0008g0312 a0001c0001t0009g0209 a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0001t0011g0245 a0001c0001t0011g0271 a0001c0001t0019g0234 a0001c0001t0019g0235 a0001c0001t0019g0236 a0001c0001t0066g0243 a0001c0001t0093g0233 a0001c0002t0002g0214 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0003g0007 a0001c0002t0003g0227 a0001c0002t0003g0306 a0001c0002t0004g0226 a0001c0002t0006g0217 a0001c0002t0010g0210 a0001c0002t0010g0211 a0001c0002t0010g0212 a0001c0002t0016g0207 a0001c0002t0016g0229 a0001c0002t0017g0228 a0001c0002t0017g0240 a0001c0002t0017g0242 a0001c0002t0028g0206 a0001c0002t0029g0223 a0001c0002t0031g0237 a0001c0002t0042g0208 a0001c0002t0058g0230 a0001c0002t0059g0221 a0001c0002t0060g0222 a0001c0002t0068g0241 a0001c0002t0073g0318 a0001c0002t0079g0213 a0001c0002t0108g0216	46	330	0.1394	926	c.-35 others(937): Show c.-3558_-3557insTTTAAATACTATTTCCCTGTGTGGACTAAGTTTT AATTCCTGTATATTATCTATGCCTGAAGTACTAAACAAATATATTGCGAG GAGGGGTACATTTTGGACAGAGTTCCACAGAATCCTATTCCTGCACCTAA CCCATTGTTTCTGCATATATTCCCTGAGAAAGAATATGGATGACTTTTAG TGGCAATTATATACTTTCCTTTAACTTTTCACCTGAACACACTAAACATG AAATAGCACCTATTCTTGCAAGACAAGGTCTAAACCAAATGGTAAGACAA AGTGGATCTTGTTCCCCTTCTTCCTTCTGTAGAGTCACCCATGATTTTTC AGAGAACATCCTTTTCTCCCACTCATCATTTTTCCCAGTGGTCAAGGTCT CCTACTGAATTGCACCTCTCCGTCTGACAACCTCACTCTCCAGCTCCACC AATCTCCTTCTATTAAACCTTGTAAAGTTCAGAATTCTATTTCCTGATAC CATTTCTTTCTTCTGGCTTATACCAGGCAATCACAGATTATTCCTACCCT AAAGTGTAAGCAAGCTCTTTAGCCTATCTTTTCCCTTTTGACTTTATTTT GAAAATTTTCAAACTGCAGAAGAAAAAAATTGCTGGCCAGGAGTGGTGGC TCATGCCTGTAATCCCAGCACTTTTGAAAGTAGAGGTGGGCAGATCACTT GAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGGAACGTCGCCTT TACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAATCC CAGCTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGG AGGTAGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGACCACAA AGCAAGACTGAGTCTCAAAAGAAAAAAAAAAAATGCTGAACT	TMEM192	ENSG00000170088.14	transcript	ENST00000306480.11	protein_coding		3471		chr4	TogoVar
TMPRSS2_chr21_41459305_41513158	41474830	A A	AGTAAGGA others(919): Show AGTAAGGAGGTGAGGGGGTGAGTGAGGGGGTGGGTGAGGGGTGGGTGAGG GGATGAGGGAGTGATTCAGAGGGTGAAGGGGTGAGTGAGGGAGTGAAGGC ATGATTGAGGGGGTGAAGGGGTGAGTGAGGGGGTGACTGAGGGGTGAAGG GGGGAGTGAGGAGGAGAGTGAGGGGGTGAAGGCATGAGTGAGGGGGTGAA TGGGTGAGAGACGGGGTGAGTGAGGGGTGAAGGGATGAATGAGGGGGTAA GTAAGGGGTTGAGGGGGTGAGGGGGTGAGTGAGGAGGTGAAGGGTGAGTG AGGGCGTGAGGGGGTGAGGGAGTGAGGGATTAGTGAGGGGGTGAGGGGTT GAGTGAGGAGGTGAGCAGGTGGGTGAGTGGATGAAGGGGTGAGTGAGGGG GTGAGGGGTGAATGAGGGGTTGAGTAGGGGGTGAGTGAGGAGGTGAGGTG GTGAGTGAGGGGGTGAAGGGTGAGTGAGGGGGTGAGGAGGTGAGTGAGGG GGTGACGGGGTGGGGTGAGGGAGGGATGAGGGGGAGAGTGAGGAGGTGAG GAGGTGAGTGAGGGTTGAGGGAGTGAGGGGGTGAGTGAGGGGGCGAAGGG GTGAGTGAGGGGGTGAGGGGGTGAAGGCGTGAGTGAGGGGGTAAGGGGAT GAGTGAGGGGGTGAGGGGGCGAGGGGGTGAGTGAGGGGGCGAGGGGGTGA GTGAGGGGGCGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGT GAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGA CTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGTGAGTGAGGGGGTG AGGGGGTGAGTGAGGAGGTGAGCGGGTGAGTGAGGGGGTGAGGGGGTGAG TGAGGAGGTGAGCGGGTGAGTGAGGAG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0266 a0001c0002t0023g0266	1	382	0.0026	926	c.728 others(943): Show c.728-1335_728-1334insCTCCTCACTCACCCGCTCACCTCCTCAC TCACCCCCTCACCCCCTCACTCACCCGCTCACCTCCTCACTCACCCCCTC ACCCCCTCACTCACCCCTCACCCCCTCACTCACCCCCTCACCTCCTCAGT CACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCA CCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCGCCCCCTCACT CACCCCCTCGCCCCCTCACTCACCCCCTCGCCCCCTCACCCCCTCACTCA TCCCCTTACCCCCTCACTCACGCCTTCACCCCCTCACCCCCTCACTCACC CCTTCGCCCCCTCACTCACCCCCTCACTCCCTCAACCCTCACTCACCTCC TCACCTCCTCACTCTCCCCCTCATCCCTCCCTCACCCCACCCCGTCACCC CCTCACTCACCTCCTCACCCCCTCACTCACCCTTCACCCCCTCACTCACC ACCTCACCTCCTCACTCACCCCCTACTCAACCCCTCATTCACCCCTCACC CCCTCACTCACCCCTTCATCCACTCACCCACCTGCTCACCTCCTCACTCA ACCCCTCACCCCCTCACTAATCCCTCACTCCCTCACCCCCTCACGCCCTC ACTCACCCTTCACCTCCTCACTCACCCCCTCACCCCCTCAACCCCTTACT TACCCCCTCATTCATCCCTTCACCCCTCACTCACCCCGTCTCTCACCCAT TCACCCCCTCACTCATGCCTTCACCCCCTCACTCTCCTCCTCACTCCCCC CTTCACCCCTCAGTCACCCCCTCACTCACCCCTTCACCCCCTCAATCATG CCTTCACTCCCTCACTCACCCCTTCACCCTCTGAATCACTCCCTCATCCC CTCACCCACCCCTCACCCACCCCCTCACTCACCCCCTCACCTCCTTAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(919): Show ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACCCTACAC ACACCACACACCCCACACACACATCACACACCACACACACCACACACACC CCACACACACCACACACACACATCACATACCACACACCCGACACACGCCA CACACACACCACACACCCCACGCACACATCACATACCACACACAAACCAC ACACCCTACACACACCACACACCCCACACACACCACACACACACACCACA CACACATCACATACCACACACAAACCACACACCCAACACACACATCACAC ACCACACACCCCACACACACATCACATACCACACACAAACCACACACCCC ACACACACATCACATACCACACACAAACCACACACCCCCACACACCCCAC ACACCCCACACACACCACACACCCCACACACACACCACACACCCCACACA CACATCACATACCACACACAAACCACACACCCCACACACCCCACACACCA CACACACACCACACACACATCACATACCACACACAAACCACACACCCTAC ACACACCACACACCCCACACACACCACACACCCGACACACGCCACACACA CACCACACACCCCACGCACACATCACATACCACACACAAACCACACACCC TACACACCCCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	338	0.0030	926	c.35 others(945): Show c.35+22426_*35+22427insCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACACCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACCCTACACACACCACACACCCCACACACACATCACACACCACACACA CCACACACACCCCACACACACCACACACACACATCACATACCACACACCC GACACACGCCACACACACACCACACACCCCACGCACACATCACATACCAC ACACAAACCACACACCCTACACACACCACACACCCCACACACACCACACA CACACACCACACACACATCACATACCACACACAAACCACACACCCAACAC ACACATCACACACCACACACCCCACACACACATCACATACCACACACAAA CCACACACCCCACACACACATCACATACCACACACAAACCACACACCCCC ACACACCCCACACACCCCACACACACCACACACCCCACACACACACCACA CACCCCACACACACATCACATACCACACACAAACCACACACCCCACACAC CCCACACACCACACACACACCACACACACATCACATACCACACACAAACC ACACACCCTACACACACCACACACCCCACACACACCACACACCCGACACA CGCCACACACACACCACACACCCCACGCACACATCACATACCACACACAA ACCACACACCCTACACACCCCACACACCCCACACACACCACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(919): Show TATAATAATATAATATATATTATTATATGTTATTATATATAATAATATAA TATATATTATTATATGTTATTATATATAATAATATAATATATATTATTAT ATGTTATTATATATAATAATATAATATATATTATTATATGTTATTATATA TTATAATATATATTATTATATGTTATTATATATAATAATATATATTATTA TATGTTATTATATATAATAATATATATTATTATATGTTATTATATATAAT AATATATATTATTATATGTTATTATATATAATAATATAATATATATTATT ATATGTTATTATATATAATAACATATTATATATTATGTTATTATATATAA TAACATAATATATATTATATGTTATTATATATAATAACATAATATATATT ATTATATGTTATTATATATAATAACATAATATATATTATTATATGTTATT ATATATAATAACATAATATATATTATTATATGTTATTATATATAATAACA TAATATATATTATTATATGTTATTATATATAATAACATAATATATATTAT TATATGTTATTATATATAATAATATAATATATATTATTATATGTTATTAT ATATAATAATATAATATATATTATTATGTTATTATATATAATAATATATA TTATATTATTATATGTTATTATATATAATAATATAATATATATTATTATA TGTTATTATATATAATATATATTATATTATATATAATAATATAATATATA TTATATTATTATATATAATAATATAATATATATTATTATATATTATATAT TATTATATATAATATATATATAATTATATTATTATATATTATTATATATA ATATATATAATTATATATATATTATATATATTATATATAATAATAATATA TATAATTATATATATTATATATAATAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0200 a0002c0003t0001g0200	1	238	0.0042	926	c.392 others(943): Show c.392+6154_392+6155insTTATTATATATAATATATATAATTATAT ATATTATTATTATATATAATATATATAATATATATATAATTATATATATT ATATATAATAATATATAATAATATAATTATATATATATTATATATAATAA TATATAATATATAATAATATATATTATATTATTATATATAATAATATAAT ATATATTATATTATTATATATAATATAATATATATTATATATAATAACAT ATAATAATATATATTATATTATTATATATAATAACATATAATAATATAAT ATATATTATTATATATAATAACATAATAATATATATTATATTATTATATA TAATAACATATAATAATATATATTATATTATTATATATAATAACATATAA TAATATATATTATGTTATTATATATAATAACATATAATAATATATATTAT GTTATTATATATAATAACATATAATAATATATATTATGTTATTATATATA ATAACATATAATAATATATATTATGTTATTATATATAATAACATATAATA ATATATATTATGTTATTATATATAATAACATATAATATATATTATGTTAT TATATATAATAACATAATATATAATATGTTATTATATATAATAACATATA ATAATATATATTATATTATTATATATAATAACATATAATAATATATATTA TTATATATAATAACATATAATAATATATATTATTATATATAATAACATAT AATAATATATATTATTATATATAATAACATATAATAATATATATTATAAT ATATAATAACATATAATAATATATATTATATTATTATATATAATAACATA TAATAATATATATTATATTATTATATATAATAACATATAATAATATATAT TATATTATTATATATAATAACATATAATAATATATATTATATTATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
ABCB5_chr7_20610667_20762008	20668924	A A	AGGAAGTG others(920): Show AGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGG AGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCCGGG AGGGGGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGAG AGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAG GGGGGTGGAGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCACCT GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGCGGAGGGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCCCCCCCCCCGGCCGGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0077 a0007c0011t0001g0077	1	360	0.0028	927	c.170 others(948): Show c.1707+10331_1707+10332insAGTCCGGGAGGGAGGGAGGGAGGT GGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGGGGT GGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGAGAGGGAGGT GGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGGGGTGG AGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAG CCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCACCTGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGG AGGGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCCCCCCCCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABR_chr17_998519_1184981	1119319	C C	CCCAGCAT others(920): Show CCCAGCATTATCCCTGAACCCGAGTTCCTCCCAGCGTTATCCCTGAGCCC GAGTTCCTCCCAGCATTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCC CTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAG CGTTATCCCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGT TCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGA GCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTA TCCCTGAGCCTGAGTCCCTCCCAGCGTTATTGCCTGAGCCTGAGTCCCTC CCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTG AGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCC TGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGC GTTATCGCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTC TTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGC CTGAGTTCCCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTAT CCCTGAGCCTGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCC CAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGA GTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCT GAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGT TATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTC CCAGCGTTAACCCTGAGCCTGAGTTCCT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02738.hp1 HG03834.hp1 HG02135.hp2 HG02738.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0084 a0001c0001t0002g0170 a0001c0001t0007g0333 a0001c0001t0002g0084 a0001c0001t0002g0170 a0001c0001t0007g0333	3	337	0.0089	927	c.246 others(944): Show c.246+5863_246+5864insAGGAACTCAGGCTCAGGGTTAACGCTGG GAGGACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATA ACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTC AGGGATAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAC TCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACGCTG GGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAACTCAGGCTCAGGG ATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGGGGAACTCAG GCTCAGGGATAACGCTGGGGAGGACTCAGGCTCAGGGATAACGCTGGGAA GAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGCGATAAC GCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCA GGGATAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACT CAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACGCTGG GAGGGACTCAGGCTCAGGCAATAACGCTGGGAGGGACTCAGGCTCAGGGA TAACGCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGGAGAACTCAGGC TCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACGCTGGGGAGA ACTCAGGCTCAGGGATAACGCTGGGGAGGAACTCGGGCTCAGGGATAACG CTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAG GGATAACGCTGGGAGGAACTCGGGCTCAGGGATAATGCTGGGAGGAACTC GGGCTCAGGGATAACGCTGGGAGGAACTCGGGTTCAGGGATAATGCTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ANO9_chr11_412938_447011	431309	T T	TGGGGGCT others(920): Show TGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTC TGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTG TGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCC CGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATC TGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCT TCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGGGG TGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGCT CCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGTA TCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGGG CTTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGG GGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGGGATGTGGGGG CGTCTGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGCGGG TATCTGGGGGCGTCTGCAGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGG GGCATCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCG GGGGTGTGGGGTCTCCCGTGGGTATCTGGGGGCGTCTGCGGGGGTGTGGG GGCTCCCGCGGGTATCTGGGGGCTTCTGCAGGGGTGTGGGGGCGTCCGCG GGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGCTCCCGTGGGTATCTGGG GGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGGCTTCCGCG GGGGTGTGGGGGCGTCCGCGGGTATCTG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0045	1	286	0.0035	927	c.539 others(942): Show c.539+384_539+385insCAGATACCCGCGGACGCCCCCACACCCCCG CGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCC CAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCG CGGACGCCCCCACACCCCTGCAGAAGCCCCCAGATACCCGCGGGAGCCCC CACACCCCCGCAGACGCCCCCAGATACCCACGGGAGACCCCACACCCCCG CGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGATGCCCC CCCAGATACCCACGGGAGCCCCCACACCCCTGCAGACGCCCCCAGATACC CGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCAGACGCC CCCACATCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCC CGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCAGAAGCC CCCCCAGATACCCGCGGACGCCCCCACACCCCCGCGGAAGCCCCCAGATA CCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCACGGGAG CCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACC CCTGCAGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCGGAAG CCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGACGCCCCCCCAGA TACCCACGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGG AGCCCCTACACCCCCGCAGACGCCCCCAGATACCCGCGGACGCCCCCACA CCCCCGCGGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCAGA CGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCGGAAGCCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ARHGAP18_chr6_129571132_129715177	129619468	G G	GGGGGAGG others(920): Show GGGGGAGGGGAGGAGGGAGAGGGAAAAAGGAGAGGAAAAAGGGGAGAGAA AAAAGGGGAGGGGAAACGGGAGGGGAAATGGGAGGCAAAAGGGGAGGGGA AGGGGAGGGGAAAGGGGAGGGGAAAGGGAGGAGAAACGGGAATGGAAGGG GAGGAGAAAGGGGAGGGGAAGGGGAGGGGAAAGAGAAGGGGGAAAACAGA GGGAGAGGATGAAGGGGAAGGGGGAAAACAGAGGGAGAGGATGAAGGGGA AGGGGGAGGTTGGAGGGGAGGGGGAGGTTGGAGGGGAGGGGGACGTGGAG GGGATGGGGAGGTGGAGGGGATGGGGAGGTGGAGGGGAGGGGGAGGCGAA GGGGGATGGGGAAGGGGGATGGGGGTGGGGAAGGGGGAGGGGGAGGGGAT GGGGAGGGGGGAGGGGGAGGGGATGGGGAGGGGGGAGGGGAGGGGGATAG GGAAGGGGGATGGGGTGGGGAAGGGGGAGGGGAGGGGGAGGGGAAGGGGA AGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATG GGGAAGGGGGGAAGGGGGATGAGGAAGGGGGAAGGGGGATGGGGAAGGGG GATAGGGAAGGGGGATGGGGAAGGGGGATAGGGAAGGGGGATGGGGAAGG GGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGGAAGGGGG ATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGG GGATGGGGAAGGGGGAAGGTCGATGGGGAAGGGGGATGGGGAAGGGGGAT GGGGAAGGGGGATGGGGAAGAGGAGATGGGGAAGGGGGGATGGGGAAGGG GGATGGGGAAGGGGAGGGGGAGGGGGAAGGGGAGGGGGAGGGGGAAGGGG GATGGGGAGGGGGAGGAGGAAGGGGGAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00741.hp1 others(4): Show HG00639.hp1 HG00642.hp1 HG00741.hp1 HG01517.hp2 HG01981.hp1 HG02602.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0080 a0001c0001t0001g0109 a0001c0001t0001g0157 others(4): Show a0001c0001t0001g0080 a0001c0001t0001g0109 a0001c0001t0001g0157 a0001c0001t0001g0179 a0001c0001t0001g0191 a0001c0001t0001g0204 a0002c0002t0001g0011	7	238	0.0294	927	c.787 others(942): Show c.787-617_787-616insATCCCCCTTCCTCCTCCCCCTCCCCATCCC CCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCATCCCC CTTCCCCATCCCCCCTTCCCCATCTCCTCTTCCCCATCCCCCTTCCCCAT CCCCCTTCCCCATCCCCCTTCCCCATCGACCTTCCCCCTTCCCCATCCCC CTTCCCCATCCCCCTTCCCCATCCCCCTTCCCCATCCCCCTTCCCCATCC CCCTTCCCCCCTTCCCCATCCCCCTTCCCCATCCCCCTTCCCCATCCCCC TTCCCCATCCCCCTTCCCTATCCCCCTTCCCCATCCCCCTTCCCTATCCC CCTTCCCCATCCCCCTTCCCCCTTCCTCATCCCCCTTCCCCCCTTCCCCA TCCCCCTTCCACCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTC CCCTTCCCCTCCCCCTCCCCTCCCCCTTCCCCACCCCATCCCCCTTCCCT ATCCCCCTCCCCTCCCCCCTCCCCATCCCCTCCCCCTCCCCCCTCCCCAT CCCCTCCCCCTCCCCCTTCCCCACCCCCATCCCCCTTCCCCATCCCCCTT CGCCTCCCCCTCCCCTCCACCTCCCCATCCCCTCCACCTCCCCATCCCCT CCACGTCCCCCTCCCCTCCAACCTCCCCCTCCCCTCCAACCTCCCCCTTC CCCTTCATCCTCTCCCTCTGTTTTCCCCCTTCCCCTTCATCCTCTCCCTC TGTTTTCCCCCTTCTCTTTCCCCTCCCCTTCCCCTCCCCTTTCTCCTCCC CTTCCATTCCCGTTTCTCCTCCCTTTCCCCTCCCCTTTCCCCTCCCCTTC CCCTCCCCTTTTGCCTCCCATTTCCCCTCCCGTTTCCCCTCCCCTTTTTT CTCTCCCCTTTTTCCTCTCCTTTTTCCCTCTCCCTCCTCCCCTCCCC	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCC others(920): Show AGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGC CAGCCCCGTCCAGGCCCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	391	0.0026	927	c.36 others(938): Show c.3611_*3612insGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
BACE1_chr11_117280698_117321256	117319367	G G	GAAAAAAA others(920): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAGAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	400	0.0025	927	c.-35 others(938): Show c.-3573_-3572insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTCTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTT TTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	BACE1	ENSG00000186318.18	transcript	ENST00000313005.11	protein_coding		3112		chr11	TogoVar
C4orf19_chr4_37448925_37598510	37585521	A A	ATGTTGAG others(920): Show ATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGA GAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGG GGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTT GAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGA GAAATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGG GGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGG AGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGT GTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGA GGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGG AGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGA GGGAGGGGAGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAG ATGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGA GAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGG GGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTT GAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGA GAGGTATTGAGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGGAGG GGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGG AGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGT GTTGAGGGAGGGGAGGGGAGAGGAGAGG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0134 a0001c0001t0011g0134	1	354	0.0028	927	c.-22 others(944): Show c.-22-3297_-22-3296insATGTTGAGGGAGGGGAGGGGAGAGGAAA GGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGG AGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAG GGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAAATGT TGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGG AGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAG GGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGG GAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGG TATTGAGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAG AGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGG GAGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGA GGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGA GGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGG AGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAG GGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTAT TGAGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGG AGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAG GGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGG GAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAG	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(920): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCCCTTCCTCCCCCTCCCCCCCTTCCTCCCCCTCCCCCCCTTC CTCCCCCTCCCCCCCTTCCTCCCCCTCCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCC CTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCC CCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCT TCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCC CCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCC TCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTC CTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0170 a0001c0003t0001g0170	1	270	0.0037	927	c.162 others(948): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCCTTCCTCCCCCTCCCCCC CTTCCTCCCCCTCCCCCCCTTCCTCCCCCTCCCCCCCTTCCTCCCCCTCC CCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCT CCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCC TCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCC CTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCT CCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTC CACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCT CTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC CCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL5A1_chr9_134636803_134849843	134714529	C C	CTGGTGAT others(920): Show CTGGTGATGGTAGTCATAGAGGTGATGGTGGTGGTGGTGATGGTGGTGGT GGAAGTGATGATGGTGGTGGTGATACTTGTGGAGGTGGTGGTGAAGGTGA TGGTGGTGATGATGGTGGTGGTGGTGGTGATGCTGGTGAAGATGGTGATG GTGGTGATGGTGGTGATGGTGGTGGTGATGCTGGTGATGGTAGTCATAGA GGTGATGGTGGTGGAGGTGATGGTGGTGATGGTGTTGCTTGTGGAGGTGG TGGTGAAGGTAATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGCTGGTG ATGGTAGTTGTAGAGGTGATGGTGGTGGTGGAGGTGATGATGGTGGTGGT GATACTTGTGGAGGTGGTGGTGAAGGTGATGGTGGTGATGATGGTGGTGG TGGTGATGCTGGTGAAGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTG ATGCTGGTGATGGTAGTCGTAGAGGTGATGGTGTTGGTGGAGGTGATGGT GGTGATGGTGATGCTTGTGGAGGTGGTGGTGAAGGTGATGGTGGTGATGG TGGTGATGGTGGTGGTGGTGGTGATGCTGGTGATGGTAGTCGTAGAGGTG ATGGTGGTGGTGGAGGTGATGGTGGTGATGGTGATGCTTGTGGAGGTGGT GGTGAAGGTGATGGTGGTGATGATGGTGGTGGCGGTGGTGGTGGTGATGC TGGTGAAGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGCTGGTGATG GTAGTCATAGAGGTGATGGTGGTGGTGGAGGTGATGGTGGTGATGGTGAT GCTTGTGGAGGTGGTGGTGAAGGTGATGGTGGTGATGCTGGTGAAGGTGG TGATGGTGGTGATGGTGGTGGTGGAGGTGATGGTGGTGATGGTGATGCTT GTGGAGGTGGTGGTGAAGGTGATGGTGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0001 a0001c0003t0002g0001	2	272	0.0074	927	c.655 others(946): Show c.655-12735_655-12734insGTGATGGTAGTCATAGAGGTGATGGT GGTGGTGGTGATGGTGGTGGTGGAAGTGATGATGGTGGTGGTGATACTTG TGGAGGTGGTGGTGAAGGTGATGGTGGTGATGATGGTGGTGGTGGTGGTG ATGCTGGTGAAGATGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGAT GCTGGTGATGGTAGTCATAGAGGTGATGGTGGTGGAGGTGATGGTGGTGA TGGTGTTGCTTGTGGAGGTGGTGGTGAAGGTAATGGTGGTGATGGTGGTG GTGGTGGTGGTGATGCTGGTGATGGTAGTTGTAGAGGTGATGGTGGTGGT GGAGGTGATGATGGTGGTGGTGATACTTGTGGAGGTGGTGGTGAAGGTGA TGGTGGTGATGATGGTGGTGGTGGTGATGCTGGTGAAGGTGGTGATGGTG GTGATGGTGGTGGTGGTGGTGATGCTGGTGATGGTAGTCGTAGAGGTGAT GGTGTTGGTGGAGGTGATGGTGGTGATGGTGATGCTTGTGGAGGTGGTGG TGAAGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGCTG GTGATGGTAGTCGTAGAGGTGATGGTGGTGGTGGAGGTGATGGTGGTGAT GGTGATGCTTGTGGAGGTGGTGGTGAAGGTGATGGTGGTGATGATGGTGG TGGCGGTGGTGGTGGTGATGCTGGTGAAGGTGGTGATGGTGGTGATGGTG GTGGTGGTGATGCTGGTGATGGTAGTCATAGAGGTGATGGTGGTGGTGGA GGTGATGGTGGTGATGGTGATGCTTGTGGAGGTGGTGGTGAAGGTGATGG TGGTGATGCTGGTGAAGGTGGTGATGGTGGTGATGGTGGTGGTGGAGGTG ATGGTGGTGATGGTGATGCTTGTGGAGGTGGTGGTGAAGGTGATGGTGGT G	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(920): Show GCTATAACCACCACCACCACCACCATTATCACCATCACCACCACACACCA CAACTACCACCACCACCACCATCACCACTATAACCACTAGCACCACCACT ACTATAACCATCACCACCGCTATAACCACCATCACCACCACCACTACCAC TACTATAACCATCACCACCACCACTGCTATAACCATCACCACTACCACTA CTACCACTACTACAACCATTACCACCATCACTGCTATAACCACCACCACC ACCACTATAACCATCACCACCATCACCACTATAACCACCACTACCACCAC CACCACTATAACCACCACCACCACCACTATAACCACCATCATCATCACCA CCACTACCACTACTACAACCATTACCACCATCACCACTATAACCACCACT ACCACCACCACCACTATAACCACCACCACCACCACTATAACCACCATCAT CATCACCACCACTACCACTACTACAACCATTACCACCATCACTGCTATAA CCACCACCACCATTATAACCATCACCACCACCACTATAACCACCATCATC ATCACCACCACTACCACTACTATAACCATTACCACCATTACTACTATAAC CACCACCACCACCACCACCACCACTATAATCATTACCACTATAACCACCA CTACCACCACTACCACTATGATAACCATCACCAACACCACTATAACCACC AATGCCAAGAAGTGTTCATAGCAGGAGTCATAAACACAGGACCAACCAGG GATAGGACCAACCAGGACCAACCAGGACCAACACCACCACCACTACTACC ACTACTATAACCATCACCACCATCACTGCTATAATCACCACCACCACCAT CACTATAATCATCACCATCATCACCACTATAACCACCACCACCACCACCA CCACCAGTTATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0037 a0001c0003t0001g0037	1	230	0.0044	927	c.724 others(946): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAG TGATGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATAGTA GTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTCCTA TCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTGGCA TTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGTGGT AGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGGTGG TGGTTATAGTAGTAATGGTGGTAATGGTTATAGTAGTGGTAGTGGTGGTG ATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGTGGT GGTTATAGCAGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTGGTGGTGA TGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTG GTAGTGGTGGTTATAGTGGTGATGGTGGTAATGGTTGTAGTAGTGGTAGT GGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGG TGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTG GTGGTGGTGGTGGTTATAGCAGTGATGGTGGTAATGGTTGTAGTAGTGGT AGTAGTGGTAGTGGTGATGGTTATAGCAGTGGTGGTGGTGATGGTTATAG TAGTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTGATGGTTATA GTAGTGGTGGTGCTAGTGGTTATAGTGGTGATGGTGGTGGTGGTGGTAGT TGTGGTGTGTGGTGGTGATGGTGATAATGGTGGTGGTGGTGGTGGTTATA G	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
EXD3_chr9_137301896_137428162	137348511	G G	GGCTAGAT others(920): Show GGCTAGATAGAGAGGGGTGGGGATCACAAGGAAGGTGCTAGATAGAGAGG GGTGGGGATCACAAGGAGGGGGTTAGATAGAGAGGGGTGGGGATCACGAG GAAGGTGCTAGATAGAGAGGGGTGAGGATCACAAGGAGGGGGTTAGACAG AGAGGGGTGGGGATCATGGGGAGGGGGGCTAGATAGAGAGGGGTGGGGAT CACGGGGAGGGGGCTAGATAGAGAGGGGTGGGGATCACAAGGAAGGTGCT AGATAGAGAGGGGTGGGGATCACAAGGAGGGGGTTAGATAGAGAGGGGTG GGGATCACGAGGAAGGTGCTAGATAGAGAGGGGTGAGGATCACAAGGAGG GGGTTAGACAGAGAGGGGTGGGGATCATGGGGAGGGGGCTAGATAGAGAG GGGTGGGGATCACGGGGAGGGGTTAGATAGAGAGGGGAGGGGGAGGGGGC TAGATAGAGAGGGGTGGGGATCACGGGGAGGGGTTAGATAGAGAGGGGAG GGGGAGGGGGCTAGATAGAGAGGGGTGGGGATCACGAGGAGGGGCTAGAT AGAGAGGGGTGGGGATCACGGGGAGGGTTCTAGATAGAGAGGGGTGGGGA TCACGGGGAAGGTTCTAGATAGAGAGGGATGGGGATCACGGGGAAGGTTC TAGATAGAGAGGGGTTGGGATCACGGGGAAGGTTCTAGATAGAGAGGGAT GGGGATCACGGGGAAGGTGCTAGATAGAGAGGGGTGGGGATTACGGGGAG AGAGCTAGATAGAGAGGGGTGGGGATCACGGGGAAGGTTCTAGATAGAGA GGGATGGGGATCACGGGGAAGGTGCTAGATAGAGAGGGGTGGGGATTACG GGGAGAGAGCTAGATAGAGAGGGGTGGGGATCACGGGGAGGGGGCTAGAT AGAGAGGGGTGGGGATCACAAGGAAGGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0028 a0028	a0028c0034 a0028c0034	a0028c0034t0001 a0028c0034t0001	a0028c0034t0001g0067 a0028c0034t0001g0067	1	82	0.0122	927	c.183 others(944): Show c.1831-274_1831-273insACCTTCCTTGTGATCCCCACCCCTCTCT ATCTAGCCCCCTCCCCGTGATCCCCACCCCTCTCTATCTAGCTCTCTCCC CGTAATCCCCACCCCTCTCTATCTAGCACCTTCCCCGTGATCCCCATCCC TCTCTATCTAGAACCTTCCCCGTGATCCCCACCCCTCTCTATCTAGCTCT CTCCCCGTAATCCCCACCCCTCTCTATCTAGCACCTTCCCCGTGATCCCC ATCCCTCTCTATCTAGAACCTTCCCCGTGATCCCAACCCCTCTCTATCTA GAACCTTCCCCGTGATCCCCATCCCTCTCTATCTAGAACCTTCCCCGTGA TCCCCACCCCTCTCTATCTAGAACCCTCCCCGTGATCCCCACCCCTCTCT ATCTAGCCCCTCCTCGTGATCCCCACCCCTCTCTATCTAGCCCCCTCCCC CTCCCCTCTCTATCTAACCCCTCCCCGTGATCCCCACCCCTCTCTATCTA GCCCCCTCCCCCTCCCCTCTCTATCTAACCCCTCCCCGTGATCCCCACCC CTCTCTATCTAGCCCCCTCCCCATGATCCCCACCCCTCTCTGTCTAACCC CCTCCTTGTGATCCTCACCCCTCTCTATCTAGCACCTTCCTCGTGATCCC CACCCCTCTCTATCTAACCCCCTCCTTGTGATCCCCACCCCTCTCTATCT AGCACCTTCCTTGTGATCCCCACCCCTCTCTATCTAGCCCCCTCCCCGTG ATCCCCACCCCTCTCTATCTAGCCCCCCTCCCCATGATCCCCACCCCTCT CTGTCTAACCCCCTCCTTGTGATCCTCACCCCTCTCTATCTAGCACCTTC CTCGTGATCCCCACCCCTCTCTATCTAACCCCCTCCTTGTGATCCCCACC CCTCTCTATCTAGCACCTTCCTTGTGATCCCCACCCCTCTCTATCTAGC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	16/21			chr9	TogoVar
FOXK2_chr17_82514732_82609602	82586356	A A	AGGGGAAA others(920): Show AGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTAGGCGGAG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTAGGCGGAGG GGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTAGGCGGAGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTAGGCGGAGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTAGGCGGAGGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGA GGGGAGACCACAGGGAGGTGAAAGGTAGGCAGGGGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGG GGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAATGGAGGAGAGGG GAGACCACAGGGAAGTCAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGA GACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAG ACCACAGGGAGGTGAAAGGTAGGCAGGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	308	0.0033	927	c.157 others(944): Show c.1576+187_1576+188insAGTCAAAGGTAGGCGGAGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAAGTCAAAGGTAGGCGGAGGGGAAAGGAGG AGAGGGGAGACCACAGGGAAGTCAAAGGTAGGCGGAGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGA GGGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGGAAAGGAGGAGAGG GGAGACCACAGGGAAGTCAAAGGTAGGCGGAGGGGGAAAGGAGGAGAGGG GAGACCACAGGGAAGTCAAAGGTAGGCGGAGGGGGAAAGGAGGAGAGGGG AGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGA GACCACAGGGAGGTCAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGA CCACAGGGAGGTCAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGAC CACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTAGGCAGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCGGGGGGGGAATGGAGGAGAGGGGAGACCACAG GGAAGTCAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTAGGCAGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGA	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GALR1_chr18_77244848_77282900	77252998	C C	CCACCACC others(920): Show CCACCACCATCACCACCATCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCATCACCACCATCACCACCACCACCACCACCACCACCACCATCACCA TCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAT CACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCA TCACCATCACCACCACCATCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCAC CATCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCA TCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCATC ACCACCATCACCACCACCACCACCACCACCACCACCATCACCATCACCAC CACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCATCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0110 a0003c0005t0110	a0003c0005t0110g0034 a0003c0005t0110g0034	1	366	0.0027	927	c.666 others(944): Show c.666+1792_666+1793insTCACCACCATCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCATCACCACCACCACCATCACCACCA CCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCATCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACC ACCACCATCACCATCACCACCACCATCACCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCATCACCACCACCATCACCACCATCACCACCACCACCACC ACCACCACCACCATCACCATCACCACCACCATCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCA CCACCATCACCACCATCACCACCACCACCACCACCATCACCACCACCACC ACCACCATCACCATCACCACCACCATCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCA TCACCATCACCACCACCATCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCACCATCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GMDS_chr6_1618806_2250605	1927217	A A	AGAGGGTA others(920): Show AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCATGTTGGTGTATTTTTATTCAGAGGGTAGC GTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTC AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCGAAGGGTAGC GTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGTATTTTATTCA GAGGGTAGCGTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTA TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCG TGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCA GAGGGTAGCGTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTA TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCG TGTTGATGTATTTTTATACAGAGGGTAGCGTGTTGGTGTATTTTTATTCG AAGGGTAGCGTGTTGGTGTATTTTATTCAGAGGGTAGCATGTTGGTGTAT TTTTATTCAGAGGGTAGCATGTTGATGTATTTTTATTCAGAGGGTAGCAT GTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAG AGGGTAGGGTGTTGCTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTAT TTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGT GTTGCTGTATTTTTATTCGGAGGGTAGCATGTTGCTGTATTTTGATTCAG AGGGTAGCGTGTTGGTGTATTTTATTCG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	166	0.0060	927	c.771 others(944): Show c.771+2885_771+2886insCGAATAAAATACACCAACACGCTACCCT CTGAATCAAAATACAGCAACATGCTACCCTCCGAATAAAAATACAGCAAC ACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAA ATACACCAACACGCTACCCTCTGAATAAAAATACAGCAACACCCTACCCT CTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACACCAAC ATGCTACCCTCTGAATAAAAATACATCAACATGCTACCCTCTGAATAAAA ATACACCAACATGCTACCCTCTGAATAAAATACACCAACACGCTACCCTT CGAATAAAAATACACCAACACGCTACCCTCTGTATAAAAATACATCAACA CGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAA TACACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTC TGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACA CGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAA TACACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTC TGAATAAAATACATCAACACGCTACCCTCTGAATAAAAATACACCAACAC GCTACCCTTCGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAAT ACATCAACACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCT GAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACAC GCTACCCTCTGAATAAAAATACACCAACATGCTACCCTCTGAATAAAAAT ACATCAACACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTC	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1927217	A A	AGAGGGTA others(920): Show AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGC GTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTC AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCGAAGGGTAGC GTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGTATTTTATTCA GAGGGTAGCGTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTA TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCG TGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCA GAGGGTAGCGTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTA TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCG TGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCG AAGGGTAGCGTGTTGGTGTATTTTATTCAGAGGGTAGCATGTTGGTGTAT TTTTATTCAGAGGGTAGCATGTTGATGTATTTTTATTCAGAGGGTAGCAT GTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAG AGGGTAGGGTGTTGCTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTAT TTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGT GTTGCTGTATTTTTATTCAGAGGGTAGCATGTTGCTGTATTTTGATTCAG AGGGTAGCGTGTTGGTGTATTTTATTCG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	166	0.0060	927	c.771 others(944): Show c.771+2885_771+2886insCGAATAAAATACACCAACACGCTACCCT CTGAATCAAAATACAGCAACATGCTACCCTCTGAATAAAAATACAGCAAC ACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAA ATACACCAACACGCTACCCTCTGAATAAAAATACAGCAACACCCTACCCT CTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACACCAAC ATGCTACCCTCTGAATAAAAATACATCAACATGCTACCCTCTGAATAAAA ATACACCAACATGCTACCCTCTGAATAAAATACACCAACACGCTACCCTT CGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACA CGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAA TACACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTC TGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACA CGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAA TACACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTC TGAATAAAATACATCAACACGCTACCCTCTGAATAAAAATACACCAACAC GCTACCCTTCGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAAT ACATCAACACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCT GAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACAC GCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAAT ACATCAACACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTC	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1927217	A A	AGAGGGTA others(920): Show AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGC GTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTC AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCGAAGGGTAGC GTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGTATTTTATTCA GAGGGTAGCGTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTA TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCG TGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCA GAGGGTAGCGTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTA TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCG TGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCG AAGGGTAGCGTGTTGGTGTATTTTATTCAGAGGGTAGCATGTTGGTGTAT TTTTATTCAGAGGGTAGCATGTTGATGTATTTTTATTCAGAGGGTAGCAT GTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAG AGGGTAGGGTGTTGCTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTAT TTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGT GTTGCTGTATTTTTATTCGGAGGGTAGCATGTTGCTGTATTTTGATTCAG AGGGTAGCGTGTTGGTGTATTTTATTCG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp1 HG01071.hp1 others(27): Show HG00323.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01175.hp2 HG01433.hp1 HG01496.hp2 HG02055.hp2 HG02109.hp1 HG02273.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02896.hp2 HG02970.hp2 HG03017.hp1 HG03225.hp1 HG03471.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG06807.hp1 NA18948.hp1 NA18970.hp1 NA19002.hp1 NA19003.hp2 NA19079.hp1 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 others(27): Show a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0076 a0001c0001t0001g0098 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0158 a0001c0001t0002g0069 a0001c0001t0002g0083 a0001c0001t0002g0096 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0080 a0001c0002t0001g0094 a0001c0002t0001g0129 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0147 a0001c0002t0001g0154	30	166	0.1807	927	c.771 others(944): Show c.771+2885_771+2886insCGAATAAAATACACCAACACGCTACCCT CTGAATCAAAATACAGCAACATGCTACCCTCCGAATAAAAATACAGCAAC ACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAA ATACACCAACACGCTACCCTCTGAATAAAAATACAGCAACACCCTACCCT CTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACACCAAC ATGCTACCCTCTGAATAAAAATACATCAACATGCTACCCTCTGAATAAAA ATACACCAACATGCTACCCTCTGAATAAAATACACCAACACGCTACCCTT CGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACA CGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAA TACACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTC TGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACA CGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAA TACACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTC TGAATAAAATACATCAACACGCTACCCTCTGAATAAAAATACACCAACAC GCTACCCTTCGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAAT ACATCAACACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCT GAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACAC GCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAAT ACATCAACACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTC	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1927217	A A	AGAGGGTA others(920): Show AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGC GTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTC AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCGAAGGGTAGC GTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGTATTTTATTCA GAGGGTAGCGTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTA TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCG TGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCA GAGGGTAGCGTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTA TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCG TGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCG AAGGGTAGCGTGTTGGTGTATTTTATTCAGAGGGTAGCATGTTGGTGTAT TTTTATTCAGAGGGTAGCATGTTGATGTATTTTTATTCAGAGGGTAGCAT GTTGGTGTATTTTTATTCAGAGGGTAGTGTGTTGGTGTATTTTTATTCAG AGGGTAGGGTGTTGCTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTAT TTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGT GTTGCTGTATTTTTATTCGGAGGGTAGCATGTTGCTGTATTTTGATTCAG AGGGTAGCGTGTTGGTGTATTTTATTCG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	166	0.0060	927	c.771 others(944): Show c.771+2885_771+2886insCGAATAAAATACACCAACACGCTACCCT CTGAATCAAAATACAGCAACATGCTACCCTCCGAATAAAAATACAGCAAC ACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAA ATACACCAACACGCTACCCTCTGAATAAAAATACAGCAACACCCTACCCT CTGAATAAAAATACACCAACACACTACCCTCTGAATAAAAATACACCAAC ATGCTACCCTCTGAATAAAAATACATCAACATGCTACCCTCTGAATAAAA ATACACCAACATGCTACCCTCTGAATAAAATACACCAACACGCTACCCTT CGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACA CGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAA TACACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTC TGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACA CGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAA TACACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTC TGAATAAAATACATCAACACGCTACCCTCTGAATAAAAATACACCAACAC GCTACCCTTCGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAAT ACATCAACACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCT GAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACAC GCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAAT ACATCAACACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTC	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GOLM1_chr9_86021146_86104558	86053539	C C	CCACACCA others(920): Show CCACACCATTCCACACCATGCCACACACCACACACACACTCCACACCAAA CCACACACAACCACTCCACACACACATCACACACCACACACCACTCCACA CACACACACACCACACACACCACACATCACACACACCATTCCACCACACA ACACACCACACATCACTCCACAAAACACCACACACACCATGCCACACCAC TCCACACACAGCACACCACTCCACACACAGCACACCACTCCACACACACC ACACACCACTCCACACGCCACAGCACACCACACATCACACCACACACTAC CACACCACACACCACTCCACACCACATACCACTCCACACCAAAACATACC ACACCACACCACACCACTCCACACAACGTGCCACACACCAGCCCACACCA AACCACACACCACACACCACACATCACTCCACACCCCAAACACACCACAC ACCACTCCACACACACCACACACCACTCCACACCAAACCACACCACTCCA CACCAAACCACACGACACACCAAACCACACCACACACATCACACCACACC ACACCATGCCATATGACTCCACACACCAGACCACACCACATACCACTCCA CACCACACCCCACTCCACACACCATGCCACACACACTACACCACACACAC CAAACCACACCACACCACACCACTCCACACACTTCACACCAAACCACACA CCCCACCACACACACTCCACACCAAACCACATCACACCACACCACTCCAC ACCATACACATCACATACCACACCACACACTGCTCCACACAACACATCGC ACCACTCCACACCAAACCACACACCATGCCACACCACTCCATATGACACA CACCACGGCACACACCACATACCACACTCCACACCAAACCACACCACACC ATATACCACACCACACCACACACCACTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02965.hp2 HG03471.hp2 others(2): Show HG01255.hp1 HG02965.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 a0002c0002t0010	a0001c0001t0002g0130 a0001c0001t0013g0109 a0001c0001t0013g0132 others(2): Show a0001c0001t0002g0130 a0001c0001t0013g0109 a0001c0001t0013g0132 a0001c0001t0014g0245 a0002c0002t0010g0122	5	314	0.0159	927	c.310 others(942): Show c.310-949_310-948insAAGTGGTGTGTGGTGTGGTGTGGTATATGG TGTGGTGTGGTTTGGTGTGGAGTGTGGTATGTGGTGTGTGCCGTGGTGTG TGTCATATGGAGTGGTGTGGCATGGTGTGTGGTTTGGTGTGGAGTGGTGC GATGTGTTGTGTGGAGCAGTGTGTGGTGTGGTATGTGATGTGTATGGTGT GGAGTGGTGTGGTGTGATGTGGTTTGGTGTGGAGTGTGTGTGGTGGGGTG TGTGGTTTGGTGTGAAGTGTGTGGAGTGGTGTGGTGTGGTGTGGTTTGGT GTGTGTGGTGTAGTGTGTGTGGCATGGTGTGTGGAGTGGGGTGTGGTGTG GAGTGGTATGTGGTGTGGTCTGGTGTGTGGAGTCATATGGCATGGTGTGG TGTGGTGTGATGTGTGTGGTGTGGTTTGGTGTGTCGTGTGGTTTGGTGTG GAGTGGTGTGGTTTGGTGTGGAGTGGTGTGTGGTGTGTGTGGAGTGGTGT GTGGTGTGTTTGGGGTGTGGAGTGATGTGTGGTGTGTGGTGTGTGGTTTG GTGTGGGCTGGTGTGTGGCACGTTGTGTGGAGTGGTGTGGTGTGGTGTGG TATGTTTTGGTGTGGAGTGGTATGTGGTGTGGAGTGGTGTGTGGTGTGGT AGTGTGTGGTGTGATGTGTGGTGTGCTGTGGCGTGTGGAGTGGTGTGTGG TGTGTGTGGAGTGGTGTGCTGTGTGTGGAGTGGTGTGCTGTGTGTGGAGT GGTGTGGCATGGTGTGTGTGGTGTTTTGTGGAGTGATGTGTGGTGTGTTG TGTGGTGGAATGGTGTGTGTGATGTGTGGTGTGTGTGGTGTGTGTGTGTG TGGAGTGGTGTGTGGTGTGTGATGTGTGTGTGGAGTGGTTGTGTGTGGTT TGGTGTGGAGTGTGTGTGTGGTGTGTGGCATGGTGTGGAATGGTGTG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
GOLM1_chr9_86021146_86104558	86053539	C C	CCACACCA others(920): Show CCACACCATTCCACACCATGCCACACACCACACACACACTCCACACCAAA CCACACACAACCACTCCACACACACATCACACACCACACACCACTCCACA CACACACACACCACACACACCACACATCACACACACCATTCCACCACACA ACACACCACACATCACTCCACAAAACACCACACACACCATGCCACACCAC TCCACACACAGCACACCACTCCACACACAGCACACCACTCCACACACACC ACACACCACTCCACACGCCACAGCACACCACACATCACACCACACACTAC CACACCACACACCACTCCACACCACATACCACTCCACACCAAAACATACC ACACCACACCACACCACTCCACACAACGTGCCACACACCAGCCCACACCA AACCACACACCACACACCACACATCACTCCACACCCCAAACACACCACAC ACCACTCGACACACACCACACACCACTCCACACCAAACCACACCACTCCA CACCAAACCACACGACACACCAAACCACACCACACACATCACACCACACA CCATGCCATATGACTCCACACACCAGACCACACCACATACCACTCCACAC CACACCCCACTCCACACACCATGCCACACACACTACACCACACACACCAA ACCACACCACACCACACCACTCCACACACTTCACACCAAACCACACACCC CACCACACACACTCCACACCAAACCACATCACACCACACCACTCCACACC ATACACATCACATACCACACCACACACTGCTCCACACAACACATCGCACC ACTCCACACCAAACCACACACCATGCCACACCACTCCATATGACACACAC CACGGCACACACCACATACCACACTCCACACCAAACCACACCACACCATA TACCACACCACACCACACACCACCACTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0069 a0001c0004t0002g0069	1	314	0.0032	927	c.310 others(942): Show c.310-949_310-948insAAGTGGTGGTGTGTGGTGTGGTGTGGTATA TGGTGTGGTGTGGTTTGGTGTGGAGTGTGGTATGTGGTGTGTGCCGTGGT GTGTGTCATATGGAGTGGTGTGGCATGGTGTGTGGTTTGGTGTGGAGTGG TGCGATGTGTTGTGTGGAGCAGTGTGTGGTGTGGTATGTGATGTGTATGG TGTGGAGTGGTGTGGTGTGATGTGGTTTGGTGTGGAGTGTGTGTGGTGGG GTGTGTGGTTTGGTGTGAAGTGTGTGGAGTGGTGTGGTGTGGTGTGGTTT GGTGTGTGTGGTGTAGTGTGTGTGGCATGGTGTGTGGAGTGGGGTGTGGT GTGGAGTGGTATGTGGTGTGGTCTGGTGTGTGGAGTCATATGGCATGGTG TGTGGTGTGATGTGTGTGGTGTGGTTTGGTGTGTCGTGTGGTTTGGTGTG GAGTGGTGTGGTTTGGTGTGGAGTGGTGTGTGGTGTGTGTCGAGTGGTGT GTGGTGTGTTTGGGGTGTGGAGTGATGTGTGGTGTGTGGTGTGTGGTTTG GTGTGGGCTGGTGTGTGGCACGTTGTGTGGAGTGGTGTGGTGTGGTGTGG TATGTTTTGGTGTGGAGTGGTATGTGGTGTGGAGTGGTGTGTGGTGTGGT AGTGTGTGGTGTGATGTGTGGTGTGCTGTGGCGTGTGGAGTGGTGTGTGG TGTGTGTGGAGTGGTGTGCTGTGTGTGGAGTGGTGTGCTGTGTGTGGAGT GGTGTGGCATGGTGTGTGTGGTGTTTTGTGGAGTGATGTGTGGTGTGTTG TGTGGTGGAATGGTGTGTGTGATGTGTGGTGTGTGTGGTGTGTGTGTGTG TGGAGTGGTGTGTGGTGTGTGATGTGTGTGTGGAGTGGTTGTGTGTGGTT TGGTGTGGAGTGTGTGTGTGGTGTGTGGCATGGTGTGGAATGGTGTG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
ICA1_chr7_8108184_8267167	8152656	C C	CCACCACC others(920): Show CCACCACCACCACCATTATCTCCTTCATCACCACTACCCCCACCACTACC ACCATCACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTT CATCACCACTACCCCCACCACTACCACCACCACCACCATTATCTCCTTCA TCACCACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACC ACCATCTCCTTCAACACCACTACCCCCACCACTACCACCATCACCTCTTC CACCACTACCACCATCTCCTCCACCACCACTACCACCACCACCACCATCT CCTTCACCACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACT ACCACCATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTT CATCACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCA CCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTACC ACCATCACCATCACCTCCACCACCACCACCACCACCACCACCATCTCCTT CAACACCACTACCCCCACCACTACCACCATCACCTCCACCACCACCACCA TCTCCTTCAACACCACTACCCCCACCACTACCACCATCACCATCACCTCC ACCACCACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCAT CACCATCACCTCCACCACCACCACCATCTCCTTCACCACCACTACCCCCA GCACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACC ACTACCACCACCACCACCATTATCTCCTTCATCACCACTACCCCCACCAC TACCACCATCACCTCCTCCACCATCACCACCACCACCACAACCACCATCT CCTTCATCACCACTACCCCCACCACTAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	274	0.0037	927	c.804 others(944): Show c.804+4459_804+4460insATAGTGGTGGGGGTAGTGGTGATGAAGG AGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTA GTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTAGT GGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGC TGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTG ATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTGGTGGT GGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGA TGGTGGTGGTGGTGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTG AAGGAGATGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGATGGTGATGGT GGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGG TGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATG AAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGT AGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGGTGAAGG AGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTG GAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGT GGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGA TGAAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGGGGTAGTGGTGATG AAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGT GGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFT140_chr16_1505427_1617072	1599452	G G	GCCGTCCG others(920): Show GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTG CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGG GTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGT CAGCCCTCCGTCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGGGGCCAGCCCCCCTGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCGGCCCCCCGCCGGGCCAGCCACCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCGGCCCCCCGCCCGGCCAGCCGCC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0006 a0002c0003t0003g0006	1	334	0.0030	927	c.369 others(944): Show c.369+2917_369+2918insGGCGGCTGGCCGGGCGGGGGGCCGACAC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCACCTCCCTCCCGGACGG GGTGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGAGGGCTG ACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC CCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar

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Search Results (Total: 6036 hits)