Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CDON_chr11_125951821_126067866	126065114	A A	ATAGTATT others(521): Show ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTA TTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGA GGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGG TGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTG ATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGGTAGTATTAAGAGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0062 a0001c0004t0003g0062	1	334	0.0030	528	c.-25 others(539): Show c.-2598_-2597insCCACCTCTTAATACTACCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCAC CTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTACCACCTCTTAATACTACCACCTCT TAATACTACCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTA ATACTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTACCACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTA CCACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2249		chr11	TogoVar
CFAP46_chr10_132803392_132947570	132914031	C C	TGAGGCTG others(521): Show TGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCAC ACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGA GGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACA CTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAG GCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACAC TGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGG CTGTGTCCAGCCACACTGCACCCCGGCCC	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0160 a0002c0002t0001g0160	1	246	0.0041	528	c.212 others(545): Show c.2121-773_2121-772insGGCCGGGGTGCAGTGTGGCTGGACACAG CCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCA GTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGC CTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAG TGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTC GGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGT GGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	35966189	A A	ACTAATAT others(521): Show ACTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGC TAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTA ATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAAT ATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATAT TTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTT AAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAA GAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGA GATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGA TATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATA TTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATT AGCTGCTAATATTTAAGAGATATTAGCTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0048 a0048	a0048c0072 a0048c0072	a0048c0072t0001 a0048c0072t0001	a0048c0072t0001g0136 a0048c0072t0001g0136	1	216	0.0046	528	c.141 others(545): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAGATA TTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATT AGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAG CTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCT GCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGC TAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTA ATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAAT ATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATAT TTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTT AAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAA GAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35966203	A A	GATATTAG others(521): Show GATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAA TATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAA	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA19002.hp1 HG02273.hp2 NA19002.hp1	a0002 a0013 a0002 a0013	a0002c0002 a0013c0011 a0002c0002 a0013c0011	a0002c0002t0001 a0013c0011t0001 a0002c0002t0001 a0013c0011t0001	a0002c0002t0001g0153 a0013c0011t0001g0169 a0002c0002t0001g0153 a0013c0011t0001g0169	2	216	0.0093	528	c.141 others(545): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAA GAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63			chrX	TogoVar
CFAP47_chrX_35914734_36390317	35966284	T T	TGCTAATA others(521): Show TGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTG CTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCT AATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAA TATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATA TTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATT TAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTA AGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAG AAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAA ATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAAT ATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATAT TAGCTGCTAATATTTAAGAAATATTAGCA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0013 a0013	a0013c0011 a0013c0011	a0013c0011t0001 a0013c0011t0001	a0013c0011t0001g0172 a0013c0011t0001g0172	1	216	0.0046	528	c.141 others(545): Show c.1411-217_1411-216insTATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAA GAAATATTAGCTGCTAATATTTAAGAAATATTAGCAGCTAATATTTAAGA AATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(521): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCC CCCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCC CGCCCCGCCCCTCCCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0057 a0003c0003t0001g0057	1	428	0.0023	528	c.217 others(543): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCC CCCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCC CGCCCCGCCCCTCCCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(521): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCC TCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTT CCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCC TCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCC CTCCCCCCTCCTCTTCCTCCCCCTCCCCCCCCCCCCCCCCCCCCCCTCCT TCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTC CTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTT CCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0031 a0001c0001t0093g0031	1	270	0.0037	528	c.162 others(549): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCC CCTCCCCCTCTTCCTCCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTCTTCCTCCCCCTCCCCC TCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTC CCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCC CCTCCCCCTCCTCTTCCTCCCCCTCCCCCCTCCTCTTCCTCCCCCTCCCC CCCCCCCCCCCCCCCCCCTCCTTCCTCCTCTTCCTCCTCCTCTTCCTCCT CCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTC TCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTC CCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL21A1_chr6_56051590_56252580	56098700	T T	TATAAATA others(521): Show TATAAATATATAAATATATAAAAATATATATAAATATATATAAATATATA TAAATATAAAAATATATATAAATATATAAATATATATAAGTATATAAATA TATATAAATATATATAAGTATATATAAATATATATAAGTATATATAAGTA TATATAAATATATATAAATATATGCAAATATATATAAATATATATATAAA TAGATATATAAATATATATAAATAGATATAAATAGATATATAAATACATA TATAAATATATATAAATACATATATAAATATATATAAATATATAAATTTA TATAAATACATATATAAATATATAAATAAATATATATAAATATATAAATA TGTATAAATATATAAATATATATAAATATATATATAAATATATAAATATA TATAAATATATAAATATATATAAATATATAAATATATATAAATATATAAA TATATATAAATATATATGTAAATATATAAATATATATAAATATATATGTA AATATATAAATATATAGATATATATATAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp1 HG01257.hp2 others(2): Show HG00735.hp2 HG01192.hp1 HG01257.hp2 HG01496.hp2 HG01943.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0007 a0003c0006t0007	a0003c0006t0007g0199 a0003c0006t0007g0201 a0003c0006t0007g0204 others(2): Show a0003c0006t0007g0199 a0003c0006t0007g0201 a0003c0006t0007g0204 a0003c0006t0007g0205 a0003c0006t0007g0206	5	264	0.0189	528	c.181 others(547): Show c.1812+2771_1812+2772insTTATATATATATCTATATATTTATAT ATTTACATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTATATATTTATATATATTTATATATTTATATATATTTATATATTT ATATATATTTATATATTTATATATATATTTATATATATTTATATATTTAT ACATATTTATATATTTATATATATTTATTTATATATTTATATATGTATTT ATATAAATTTATATATTTATATATATTTATATATGTATTTATATATATTT ATATATGTATTTATATATCTATTTATATCTATTTATATATATTTATATAT CTATTTATATATATATTTATATATATTTGCATATATTTATATATATTTAT ATATACTTATATATACTTATATATATTTATATATACTTATATATATTTAT ATATATTTATATACTTATATATATTTATATATTTATATATATTTTTATAT TTATATATATTTATATATATTTATATATATTTTTATATATTTATATATTT AT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL23A1_chr5_178232618_178595393	178395247	C C	CGTCCTCC others(521): Show CGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCT CTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGA GTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAA CGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGG CGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTG GTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCT CTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCG GCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGG CTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGA GAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCA AACGTCCAGGCTTGGTTCCGGCCCCGGCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0156 a0003c0005t0003g0156	1	236	0.0042	528	c.362 others(547): Show c.362-88856_362-88329dupAGCCGGGGCCGGAACCAAGCCTGGAC GTTTGGAGCTGAGAGCCGAATGCCCAGAGCGCCTGCCCGCCGGGGAGAGA CTCTCGGAGGACAGCCGGGGCCGGAACCAAGCCTGGACGTTTGGAGCTGA GAGCCGAATGCCCAGAGCGCCTGCCCGCCGGGGAGAGACTCTCGGAGGAC AGCCGGGGCCGGAACCAAGCCTGGACGTTTGGAGCTGAGAGCCGAATGCC CAGAGCGCCTGCCCGCCGGGGAGAGACTCTCGGAGGACAGCCGGGGCCGG AACCAAGCCTGGACGTTTGGAGCTGAGAGCCGAATGCCCAGAGCGCCTGC CCGCCGGGGAGAGACTCTCGGAGGACAGCCGGGGCCGGAACCAAGCCTGG ACGTTTGGAGCTGAGAGCCGAATGCCCAGAGCGCCTGCCCGCCGGGGAGA GACTCTCGGAGGACAGCCGGGGCCGGAACCAAGCCTGGACGTTTGGAGCT GAGAGCCGAATGCCCAGAGCGCCTGCCCGCCGGGGAGAGACTCTCGGAGG AC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178395268	C C	CGGCGGGC others(521): Show CGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGC TTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGC GCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCC CCGGCTGTCCTCCGAGAGTCTCTCCCTGGCGGGCAGGCGCTCTGGGCATT CGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTC CGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCT CCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTC CCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAG GCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCTGGCGGGCAG GCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGG CCCCGGCTGTCCTCCGAGAGTCTCTCCCC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	236	0.0042	528	c.362 others(547): Show c.362-88350_362-88349insGGGGAGAGACTCTCGGAGGACAGCCG GGGCCGGAACCAAGCCTGGACGTTTGGAGCTGAGAGCCGAATGCCCAGAG CGCCTGCCCGCCAGGGAGAGACTCTCGGAGGACAGCCGGGGCCGGAACCA AGCCTGGACGTTTGGAGCTGAGAGCCGAATGCCCAGAGCGCCTGCCCGCC GGGGAGAGACTCTCGGAGGACAGCCGGGGCCGGAACCAAGCCTGGACGTT TGGAGCTGAGAGCCGAATGCCCAGAGCGCCTGCCCGCCGGGGAGAGACTC TCGGAGGACAGCCGGGGCCGGAACCAAGCCTGGACGTTTGGAGCTGAGAG CCGAATGCCCAGAGCGCCTGCCCGCCAGGGAGAGACTCTCGGAGGACAGC CGGGGCCGGAACCAAGCCTGGACGTTTGGAGCTGAGAGCCGAATGCCCAG AGCGCCTGCCCGCCGGGGAGAGACTCTCGGAGGACAGCCGGGGCCGGAAC CAAGCCTGGACGTTTGGAGCTGAGAGCCGAATGCCCAGAGCGCCTGCCCG CC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178395335	T T	TGTCCTCC others(521): Show TGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCT CTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGA GTCTCTCCCTGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAA CGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGG CGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTG GTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCT CTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCG GCTGTCCTCCGAGAGTCTCTCCCTGGCGGGCAGGCGCTCTGGGCATTCGG CTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGA GAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCA AACGTCCAGGCTTGGTTCCGGCCCCGGCC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	236	0.0042	528	c.362 others(547): Show c.362-88417_362-88416insGGCCGGGGCCGGAACCAAGCCTGGAC GTTTGGAGCTGAGAGCCGAATGCCCAGAGCGCCTGCCCGCCGGGGAGAGA CTCTCGGAGGACAGCCGGGGCCGGAACCAAGCCTGGACGTTTGGAGCTGA GAGCCGAATGCCCAGAGCGCCTGCCCGCCAGGGAGAGACTCTCGGAGGAC AGCCGGGGCCGGAACCAAGCCTGGACGTTTGGAGCTGAGAGCCGAATGCC CAGAGCGCCTGCCCGCCGGGGAGAGACTCTCGGAGGACAGCCGGGGCCGG AACCAAGCCTGGACGTTTGGAGCTGAGAGCCGAATGCCCAGAGCGCCTGC CCGCCGGGGAGAGACTCTCGGAGGACAGCCGGGGCCGGAACCAAGCCTGG ACGTTTGGAGCTGAGAGCCGAATGCCCAGAGCGCCTGCCCGCCAGGGAGA GACTCTCGGAGGACAGCCGGGGCCGGAACCAAGCCTGGACGTTTGGAGCT GAGAGCCGAATGCCCAGAGCGCCTGCCCGCCGGGGAGAGACTCTCGGAGG AC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178396303	T T	TGTCCTCC others(521): Show TGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCT CTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGA GTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAA CGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGG CGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTG GTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCT CTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCG GCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGG CTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGA GAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCA AACGTCCAGGCTTGGTTCCGGCCCCGGCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0107 a0001c0001t0005g0107	1	236	0.0042	528	c.362 others(547): Show c.362-89385_362-89384insGGCCGGGGCCGGAACCAAGCCTGGAC GTTTGGAGCTGAGAGCCGAATGCCCAGAGCGCCTGCCCGCCGGGGAGAGA CTCTCGGAGGACAGCCGGGGCCGGAACCAAGCCTGGACGTTTGGAGCTGA GAGCCGAATGCCCAGAGCGCCTGCCCGCCGGGGAGAGACTCTCGGAGGAC AGCCGGGGCCGGAACCAAGCCTGGACGTTTGGAGCTGAGAGCCGAATGCC CAGAGCGCCTGCCCGCCGGGGAGAGACTCTCGGAGGACAGCCGGGGCCGG AACCAAGCCTGGACGTTTGGAGCTGAGAGCCGAATGCCCAGAGCGCCTGC CCGCCGGGGAGAGACTCTCGGAGGACAGCCGGGGCCGGAACCAAGCCTGG ACGTTTGGAGCTGAGAGCCGAATGCCCAGAGCGCCTGCCCGCCGGGGAGA GACTCTCGGAGGACAGCCGGGGCCGGAACCAAGCCTGGACGTTTGGAGCT GAGAGCCGAATGCCCAGAGCGCCTGCCCGCCGGGGAGAGACTCTCGGAGG AC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL4A2_chr13_110302284_110518209	110385705	A A	AGGCCGTG others(521): Show AGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAG GCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGAC CGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTG GTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGT TACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTA CAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGCTGCA GTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGT GTGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGT GTGGATAGGCCGTGGCTGCAGCGTGTGGATGGGCCGTGGTTACAGCGTGT GGATGGGCCGTGGTTACAGCGTGTGGATG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01261.hp1 HG01891.hp2 others(14): Show HG01069.hp1 HG01261.hp1 HG01891.hp2 HG01978.hp2 HG02300.hp2 HG02809.hp2 HG03098.hp2 HG03130.hp2 HG03516.hp2 NA18946.hp1 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18980.hp2 NA18991.hp2 NA19066.hp1 NA21309.hp1	a0001 a0002 a0014 others(1): Show a0001 a0002 a0014 a0016	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0022 a0001c0074 a0001c0077 a0002c0006 a0002c0013 a0002c0017 a0014c0108 a0016c0048	a0001c0001t0001 a0001c0001t0010 a0001c0002t0003 others(13): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0003 a0001c0002t0005 a0001c0003t0017 a0001c0005t0002 a0001c0008t0004 a0001c0022t0018 a0001c0074t0014 a0001c0077t0005 a0002c0006t0006 a0002c0013t0005 a0002c0013t0043 a0002c0017t0002 a0014c0108t0002 a0016c0048t0005	a0001c0001t0001g0195 a0001c0001t0001g0231 a0001c0001t0010g0033 others(14): Show a0001c0001t0001g0195 a0001c0001t0001g0231 a0001c0001t0010g0033 a0001c0002t0003g0136 a0001c0002t0005g0158 a0001c0003t0017g0245 a0001c0005t0002g0297 a0001c0008t0004g0282 a0001c0022t0018g0173 a0001c0074t0014g0043 a0001c0077t0005g0236 a0002c0006t0006g0090 a0002c0013t0005g0036 a0002c0013t0043g0016 a0002c0017t0002g0300 a0014c0108t0002g0323 a0016c0048t0005g0206	17	372	0.0457	528	c.180 others(547): Show c.180+28176_180+28177insGGACCGTGGTTACAGTGTGTGGATAG GCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGAC CGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTG GTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGT TACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTA CAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGCTGCA GTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGT GTGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGT GTGGATAGGCCGTGGCTGCAGCGTGTGGATGGGCCGTGGTTACAGCGTGT GGATGGGCCGTGGTTACAGCGTGTGGATGGGCCGTGGTTACAGTGTGTGG AT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385705	A A	AGGCCGTG others(521): Show AGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAG GCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGAC CGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTG GTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGT TACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTA CAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGCTGCA GTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGT GTGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGT GTGGATAGGCCGTGGCTGCAGTGTGTGGATGGGCCGTGGTTACAGCGTGT GGATGGGCCGTGGTTACAGCGTGTGGATG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp1 HG01167.hp1 others(18): Show HG00099.hp2 HG00621.hp1 HG01167.hp1 HG01168.hp2 HG01517.hp2 HG02015.hp2 HG02040.hp1 HG02155.hp2 HG03491.hp2 HG04204.hp1 NA18957.hp1 NA18963.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA19011.hp2 NA19079.hp2 NA19088.hp1 NA19091.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0011 a0001c0016 a0002c0006 a0002c0035 a0004c0012 a0010c0036	a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 others(15): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0003t0002 a0001c0003t0003 a0001c0004t0002 a0001c0004t0004 a0001c0008t0001 a0001c0008t0003 a0001c0011t0003 a0001c0016t0001 a0002c0006t0001 a0002c0035t0003 a0004c0012t0001 a0004c0012t0004 a0010c0036t0021	a0001c0001t0003g0064 a0001c0002t0001g0152 a0001c0002t0002g0286 others(18): Show a0001c0001t0003g0064 a0001c0002t0001g0152 a0001c0002t0002g0286 a0001c0002t0003g0127 a0001c0002t0005g0216 a0001c0003t0002g0333 a0001c0003t0002g0353 a0001c0003t0003g0132 a0001c0004t0002g0359 a0001c0004t0004g0356 a0001c0004t0004g0357 a0001c0008t0001g0149 a0001c0008t0001g0222 a0001c0008t0003g0081 a0001c0011t0003g0125 a0001c0016t0001g0109 a0002c0006t0001g0114 a0002c0035t0003g0142 a0004c0012t0001g0199 a0004c0012t0004g0299 a0010c0036t0021g0319	21	372	0.0565	528	c.180 others(547): Show c.180+28176_180+28177insGGACCGTGGTTACAGTGTGTGGATAG GCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGAC CGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTG GTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGT TACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTA CAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGCTGCA GTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGT GTGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGT GTGGATAGGCCGTGGCTGCAGTGTGTGGATGGGCCGTGGTTACAGCGTGT GGATGGGCCGTGGTTACAGCGTGTGGATGGGCCGTGGTTACAGTGTGTGG AT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385705	A A	AGGCCGTG others(521): Show AGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAG GCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGAC CGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTG GTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGT TACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGTTA CAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGCTGCA GTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGT GTGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGT GTGGATAGGCCGTGGCTGCAGCGTGTGGATGGGCCGTGGTTACAGCGTGT GGATGGGCCGTGGTTACAGCGTGTGGATG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0083 a0001c0001t0006g0083	1	372	0.0027	528	c.180 others(547): Show c.180+28176_180+28177insGGACCGTGGTTACAGTGTGTGGATAG GCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGAC CGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTG GTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGT TACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGTTA CAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGCTGCA GTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGT GTGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGT GTGGATAGGCCGTGGCTGCAGCGTGTGGATGGGCCGTGGTTACAGCGTGT GGATGGGCCGTGGTTACAGCGTGTGGATGGGCCGTGGTTACAGTGTGTGG AT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385705	A A	AGGCCGTG others(521): Show AGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAG GCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGAC CGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTG GTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGT TACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGTTA CAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGCTGCA GTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGT GTGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGT GTGGATAGGCCGTGGCTGCAGTGTGTGGATGGGCCGTGGTTACAGCGTGT GGATGGGCCGTGGTTACAGCGTGTGGATG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0094 a0001c0016t0003g0094	1	372	0.0027	528	c.180 others(547): Show c.180+28176_180+28177insGGACCGTGGTTACAGTGTGTGGATAG GCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGAC CGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTG GTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGT TACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGTTA CAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGCTGCA GTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGT GTGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGT GTGGATAGGCCGTGGCTGCAGTGTGTGGATGGGCCGTGGTTACAGCGTGT GGATGGGCCGTGGTTACAGCGTGTGGATGGGCCGTGGTTACAGTGTGTGG AT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385705	A A	AGGCCGTG others(521): Show AGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAG GCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGAC CGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTG GTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGT TACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTA CAGTGTGTGGATGGGCCGTGGCTACAGTGTGTGGATGGGCCGTGGCTGCA GTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGT GTGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGT GTGGATAGGCCGTGGCTGCAGTGTGTGGATGGGCCGTGGTTACAGCGTGT GGATGGGCCGTGGTTACAGCGTGTGGATG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0084 a0002c0006t0003g0084	1	372	0.0027	528	c.180 others(547): Show c.180+28176_180+28177insGGACCGTGGTTACAGTGTGTGGATAG GCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGAC CGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTG GTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGT TACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTA CAGTGTGTGGATGGGCCGTGGCTACAGTGTGTGGATGGGCCGTGGCTGCA GTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGT GTGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGT GTGGATAGGCCGTGGCTGCAGTGTGTGGATGGGCCGTGGTTACAGCGTGT GGATGGGCCGTGGTTACAGCGTGTGGATGGGCCGTGGTTACAGTGTGTGG AT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385906	T T	TTACAGTG others(521): Show TTACAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTT ACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTAC AGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGCTGCAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATA GGCCGTGGCTACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGG CCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCC GTGGCTACAGTGTGTGGATGGACCGTGGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0300 a0002c0017t0002g0300	1	372	0.0027	528	c.180 others(547): Show c.180+28359_180+28360insTGTGTGGATAGACCGTGGCTGCAGTG TGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGA TAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATG GACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGA CCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCC GTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGT GGTTACAGTGTGTGGATAGGCCGTGGCTACAGTGTGTGGATGGGCCGTGG TTACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTT ACAGTGTGTGGATGGGCCGTGGCTACAGTGTGTGGATGGACCGTGGCTAC AG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385906	T T	TTACAGTG others(521): Show TTACAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTT ACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTAC AGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGCTGCAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATA GGCCGTGGCTACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGG CCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCC GTGGCTACAGTGTGTGGATGGACCGTGGC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0004 a0004c0012t0004	a0004c0012t0004g0299 a0004c0012t0004g0299	1	372	0.0027	528	c.180 others(547): Show c.180+28359_180+28360insTGTGTGGATAGACCGTGGCTGCAGTG TGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGA TAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATG GACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGA CCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCC GTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGT GGTTACAGTGTGTGGATAGGCCGTGGCTACAGTGTGTGGATGGGCCGTGG TTACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTT ACAGTGTGTGGATGGGCCGTGGCTACAGTGTGTGGATGGACCGTGGCTAC AG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL9A3_chr20_62812050_62846159	62825064	A A	AGGCTGGG others(521): Show AGGCTGGGCTCCGGCGGGAGGGAGAGGCTGGGCTCCGGCGGGAGGGAGAG GCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGC TGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTG GGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGG CTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCT CCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCC GGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGG CGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCG GGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGG GGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0302 a0001c0003t0001g0302	1	412	0.0024	528	c.630 others(541): Show c.630+66_630+67insAGGCTGGGCTCCGGCGGGAGGGAGAGGCTGGG CTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCT CCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCC GGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGG CGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCG GGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGG GGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAG GGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825082	A A	AGGGAGAG others(521): Show AGGGAGAGGCTGGGCTCCGGCGGGAGGGAGAGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGG AGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTG GGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGG CTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCT CCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCC GGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGG CGGGGGGGAGGGGCTGGGCTCCGGCGGGG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0053 a0001c0005t0001g0053	1	412	0.0024	528	c.630 others(541): Show c.630+66_630+67insAGGCTGGGCTCCGGCGGGAGGGAGAGGCTGGG CTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCT CCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCC GGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGG CGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCG GGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGG GGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(521): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAG GGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGG GCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTG GGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGG CTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCT CCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCC GGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGG CGGGGGGGAGGGGCTGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0115 a0001c0005t0001g0115	1	412	0.0024	528	c.630 others(543): Show c.630+155_630+156insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGG GCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGC TCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTC CGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCG GCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGC GGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGG TGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(521): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTG GGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGG CTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCT CCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCC GGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGG CGGGGGGGAGGGGCTGGGCTCCGGCGGGG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0118 a0001c0007t0002g0118	1	412	0.0024	528	c.630 others(543): Show c.630+179_630+180insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGG GCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGC TCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTC CGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCG GCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGC GGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGG GAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(521): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTG GGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGG CTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCT CCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCC GGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGG CGGGGGGGAGGGGCTGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0055 a0001c0004t0001g0055	1	412	0.0024	528	c.630 others(543): Show c.630+179_630+180insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGG GCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGC TCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTC CGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCG GCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGC GGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGG GAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(521): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTG GGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGG CTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCT CCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCC GGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGG CGGGGGGGAGGGGCTGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp2 NA18993.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0024t0002 a0001c0001t0001 a0001c0024t0002	a0001c0001t0001g0061 a0001c0024t0002g0056 a0001c0001t0001g0061 a0001c0024t0002g0056	2	412	0.0049	528	c.630 others(543): Show c.630+179_630+180insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGG GCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGC TCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTC CGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCG GCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGC GGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGG GAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(521): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAG GGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTG GGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGG CTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCT CCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCC GGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGG CGGTGGGGAGGGGCTGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0329 a0001c0003t0001g0329	1	412	0.0024	528	c.630 others(543): Show c.630+179_630+180insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCT GGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGG GCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGC TCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTC CGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCG GCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGC GGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGG GAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825154	A A	AGGGAGGG others(521): Show AGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGGGGAG GGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTG GGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGG CTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCT CCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCC GGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGG CGGGGGGGAGGGGCTGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0129 a0001c0004t0001g0129	1	412	0.0024	528	c.630 others(543): Show c.630+156_630+157insGGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGG GCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTG GGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGG CTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCT CCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCC GGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGG CGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCG GGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGG GGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSTB_chr21_43768950_43781308	43776442	C C	CGCGCGGG others(521): Show CGCGCGGGGCGGGGCGCGGGGCGGGGCGCGGGGCGGGGCGCGGGGCGGGG CGCGGGGCGGGGCGCGGGGCGGGGCGCGGGGCGGGGCGCGGGGCGGGGCG CGGGGCGGGGCGCGGGGCGGGGCGCGGGGCGGGGCGCGGGGCGGGGCGCG GGGCGGGGCGCGGGGCGGGGCGCGGGGCGGGGCGCGGGGCGGGGCGCGGG GCGGGGCGCGGGGCGGGGCGCGGGGCGGGGCGCGGGGCGGGGCGCGGGGC GGGGCGCGGGGCGGGGCGCGGGGCGGGGCGCGGGGCGGGGCGCGGGGCGG GGCGCGGGGCGGGGCGCGGGGCGGGGCGCGGGGCGGGGCGCGGGGCGGGG CGCGGGGCGGGGCGCGGGGCGGGGCGCGGGGCGGGGCGCGGGGCGGGGCG CGGGGCGGGGCGCGGGGCGGGGCGCGGGGCGGGGCGCGGGGCGGGGCGCG GGGCGGGGCGCGGGGCGGGGCGCGGGGCGGGGCGCGGGGCGGGGCGCGGG GCGGGGCGCGGGGCGGGGCGCGGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	452	0.0022	528	c.-17 others(537): Show c.-174_-173insCCCGCCCCGCGCCCCGCCCCGCGCCCCGCCCCGCGC CCCGCCCCGCGCCCCGCCCCGCGCCCCGCCCCGCGCCCCGCCCCGCGCCC CGCCCCGCGCCCCGCCCCGCGCCCCGCCCCGCGCCCCGCCCCGCGCCCCG CCCCGCGCCCCGCCCCGCGCCCCGCCCCGCGCCCCGCCCCGCGCCCCGCC CCGCGCCCCGCCCCGCGCCCCGCCCCGCGCCCCGCCCCGCGCCCCGCCCC GCGCCCCGCCCCGCGCCCCGCCCCGCGCCCCGCCCCGCGCCCCGCCCCGC GCCCCGCCCCGCGCCCCGCCCCGCGCCCCGCCCCGCGCCCCGCCCCGCGC CCCGCCCCGCGCCCCGCCCCGCGCCCCGCCCCGCGCCCCGCCCCGCGCCC CGCCCCGCGCCCCGCCCCGCGCCCCGCCCCGCGCCCCGCCCCGCGCCCCG CCCCGCGCCCCGCCCCGCGCCCCGCCCCGCGCCCCGCCCCGCGCCCCGCC CCGCGCCCCGCCCCGCGCCCCGCCCCGCGCCCCGCCCCGCGC	CSTB	ENSG00000160213.10	transcript	ENST00000291568.7	protein_coding		135		chr21	TogoVar
DCDC2C_chr2_3698575_3853008	3725467	C C	CGGTGGAT others(521): Show CGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCG GAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTG CCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGT GGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCC CAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	324	0.0031	528	c.340 others(545): Show c.340-1438_340-1437insGGAGGGAGACGAGCAGAGAGGGAGGAGG CTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCC GGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGA TCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAG AGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAG ACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGC AGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAG GGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGA GGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGC CAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTG GATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX51_chr12_132131594_132149319	132148913	G G	GCTCACAC others(521): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	334	0.0030	528	c.-46 others(539): Show c.-4618_-4617insTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGT GTGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTG TGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCG AGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGG CGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGCGGCAC TCACCGAGGGGATTAGGGGTGTGGTAGGAGCGAGGCGGCGGCACTCACCG AGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGA TTAGGGGTGTGGTGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGG GTGTGGTAGGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGG TAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAG TGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4595		chr12	TogoVar
DDX51_chr12_132131594_132149319	132148918	C C	CACCACAC others(521): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0034	a0002c0002t0034g0050 a0002c0002t0034g0050	1	334	0.0030	528	c.-46 others(539): Show c.-4623_-4622insAGGAGCGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAG GAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGA GGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGC GGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACT CACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGCGGCACTCACCGA GGGGATTAGGGGTGTGGTGTGAGTGAGGCGGCGGCACTCACCGAGGGGAT TAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGG TGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGT GTGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4600		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149080	C C	CGCCGCCT others(521): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCG GTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGT GCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	334	0.0030	528	c.-47 others(539): Show c.-4785_-4784insCGCACTCACCGAGGGGATTAGGGGTGTGGTGTGA GCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGG CGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGCGAGGCGGCCG CACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCCGCACTCA CCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGCCGCACTCACCGAGG GGATTAGGGGTGTGGTGTGAGTGAGGCGGCCGCACTCACCGAGGGGATTA GGGGTGTGGTGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TGGTAGGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGT GAGCGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGA GGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGC GGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGC	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4762		chr12	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCCC others(521): Show GCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCC TCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCGCACCCGCAC CCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCC GCACCCGCACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGC ACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCAC CCCCACCCTCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCC TCACCCCCACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTC ACCCCCACCCTCACCCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01361.hp1 HG01346.hp2 HG01361.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0142 a0002c0011t0001g0143 a0002c0011t0001g0142 a0002c0011t0001g0143	2	320	0.0063	528	c.39 others(539): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTG GGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(521): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCC GCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCC GCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCGC ACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCAC CCCCACCCTCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCC TCACCCCCACCCCCACCCGCACCCGCACCCCCACCCTCACCCCCACCCCC ACCCCCACCCTCACCCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0047 a0002c0047	a0002c0047t0001 a0002c0047t0001	a0002c0047t0001g0174 a0002c0047t0001g0174	1	320	0.0031	528	c.39 others(539): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGG GGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(521): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCC CCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCC ACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCC GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCTC ACCCCCACCCTCACCCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0209 a0002c0002t0001g0209	1	320	0.0031	528	c.39 others(539): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTG AGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGG GGTGCGGGTGCGGGTGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGG TGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGGGGGTGAGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIRAS1_chr19_2709567_2726372	2713386	C C	CCCTCACT others(521): Show CCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCCCTCA CTTCCTACACCCATCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCT ACACCCACCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCC ATCACCTCCTCCACCCTTCACCCCATACCTCACTTCCTACACCCACCACC TCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCC ACCCTTCACCCCATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTT CATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCC ATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCCCT CACTTCCTACACCCATCACCTCCTCCACCCTTCACCCCATCCCTCACTTC CTACACCCATCGCCTCCTCCACCCTTCACCCCATACCTCACTTCCTACAC CCATCACCTCCTCCACCCTTCACCCCATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0013 a0001c0001t0011g0013	1	412	0.0024	528	c.38 others(539): Show c.3823_*3824insTATGGGGTGAAGGGTGGAGGAGGTGATGGGTGTA GGAAGTGAGGTATGGGGTGAAGGGTGGAGGAGGCGATGGGTGTAGGAAGT GAGGGATGGGGTGAAGGGTGGAGGAGGTGATGGGTGTAGGAAGTGAGGGA TGGGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGAT GAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGG TGGAGGAGGTGATGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGG AGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGG TGGGTGTAGGAAGTGAGGTATGGGGTGAAGGGTGGAGGAGGTGATGGGTG TAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGGAA GTGAGGAATGGGATGAAGGGTGGAGGAGGTGATGGGTGTAGGAAGTGAGG GATGGGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1180		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713405	T T	TCACCTCC others(521): Show TCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCT CCTCCACCCTTAATGCCATCTCTCACTTCCTACACCCACCACCTCCTCCA CCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTC CTCCCATCCCTCACTTCCTCCACCCATCACCTCCTCCATCCTTCATCCCA TCCCTCACTTCCTACACCCATCGCCTCCTCCACCCTTCACCCCATACCTC ACTTCCTACACCCATCACCTCCTCCACCCTTCACCCCATACCTCACTTCC TACACCCACCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACC CACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCATCAC CTCCTCCACCCTTCATCCCATCCGTCACTGTCTACACCGATCACCTCCTC CACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCT TAATGCCATCTCTCACTTCCTACACCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	412	0.0024	528	c.38 others(539): Show c.3804_*3805insGTGGGTGTAGGAAGTGAGAGATGGCATTAAGGGT GGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGA GGTGATCGGTGTAGACAGTGACGGATGGGATGAAGGGTGGAGGAGGTGAT GGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGT AGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAG TGAGGTATGGGGTGAAGGGTGGAGGAGGTGATGGGTGTAGGAAGTGAGGT ATGGGGTGAAGGGTGGAGGAGGCGATGGGTGTAGGAAGTGAGGGATGGGA TGAAGGATGGAGGAGGTGATGGGTGGAGGAAGTGAGGGATGGGAGGAAGG GTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAG GAGGTGGTGGGTGTAGGAAGTGAGAGATGGCATTAAGGGTGGAGGAGGTG GTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1161		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713475	T T	TCTCACTT others(521): Show TCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCAC TTCCTACACCCACCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTA CACCCACCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCA CCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCT CCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCA CCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTC ATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCA TTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATTCCTC ACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCC TACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACC CACCACCTCCTCCACCCTTCATCCCATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	412	0.0024	528	c.37 others(539): Show c.3734_*3735insGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGT AGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAG TGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGA ATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGA TGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGG GTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAG GAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTG ACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGT GTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGA AGTGAGGAATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAG GAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1091		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713578	G G	GCACCACC others(521): Show GCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCA CCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCT CCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCC TTCACCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATC CCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCC CTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCCCTCACT TCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTAC ACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGT CACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTC CTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCAC CCTTCATCCCATCCCTCACTTCCTACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0007	1	412	0.0024	528	c.36 others(539): Show c.3631_*3632insGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGA GGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGT GGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGG TGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGG AAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGA GGGATGGGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATG GGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGA AGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTG GAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAG GTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTG GGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGGGGTGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		988		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713578	G G	GCACCACC others(521): Show GCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCA CCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCT CCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCC TTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATC CCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCC CTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACT TCCTACACCCACCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTAC ACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCAC CACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTC CTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCAC CCTTCATCCCATCCCTCACTTCCTACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	412	0.0024	528	c.36 others(539): Show c.3631_*3632insGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGA GGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGT GGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGG TGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGG AAGTGAGGGATGGGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGA GGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATG GGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGA AGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTG GAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAG GTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTG GGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGGGGTGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		988		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713578	G G	GCACCACC others(521): Show GCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCA CCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCT CCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCC TTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATC CCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCC CTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATTCCTCACT TCCTACACCCACCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTAC ACCCACCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCAC CACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCACCACCTC CTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCAC CCTTCATCCCATTCCTCACTTCCTACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	2	412	0.0049	528	c.36 others(539): Show c.3631_*3632insGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGA GGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGT GGTGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGTGGTGGG TGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGG AAGTGAGGGATGGGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGA GGAATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATG GGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGA AGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTG GAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAG GTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTG GGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGGGGTGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		988		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713578	G G	GCACCACC others(521): Show GCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCA CCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCT CCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCC TTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATC CCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCC CTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACT TCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTAC ACCCACCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCGT CACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTC CTCCACCCTTCACCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCAC CCTTCATCCCATTCCTCACTTCCTACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	412	0.0024	528	c.36 others(539): Show c.3631_*3632insGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGA GGAGGTGACGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGT GGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGG TGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGG AAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGA GGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATG GGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGA AGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTG GAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAG GTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTG GGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGGGGTGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		988		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713578	G G	GCACCACC others(521): Show GCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCA CCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCT CCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCC TTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATC CCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCC CTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACT TCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTAC ACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCAC CACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTC CTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCAC CCTTCATCCCATTCCTCACTTCCTACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	412	0.0024	528	c.36 others(539): Show c.3631_*3632insGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGA GGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGT GACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGG TGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGG AAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGA GGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATG GGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGA AGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTG GAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAG GTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTG GGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGGGGTGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		988		chr19	TogoVar
DISP3_chr1_11474155_11542551	11522607	G G	GCCCAGCC others(521): Show GCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGGCCCAGC CAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGC CCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCC AGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACC CAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCA GGGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAAGACCCAGCCAG GACCCAGCGAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGGCCCAGCCAGGA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0007 a0004c0010t0007	a0004c0010t0007g0337 a0004c0010t0007g0337	1	358	0.0028	528	c.236 others(547): Show c.2363-1304_2363-1303insGACCCAGCCAGAGCCCAGCCAGGGCC CAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GAGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCC AGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCA GCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGG ACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAG CCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGA CCCAGCCAAGACCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGC GAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGC CCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCC AG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522607	G G	GCCCAGCC others(521): Show GCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGA CCCAGCCAGGGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGC CAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCC AGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCC CAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCA GGGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAAGACCCAGCCAG GACCCAGCGAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGGCCCAGCCAGGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01516.hp2 HG00741.hp2 HG01516.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0006 a0003c0003 a0005c0006	a0003c0003t0001 a0005c0006t0001 a0003c0003t0001 a0005c0006t0001	a0003c0003t0001g0245 a0005c0006t0001g0143 a0003c0003t0001g0245 a0005c0006t0001g0143	2	358	0.0056	528	c.236 others(547): Show c.2363-1304_2363-1303insGACCCAGCCAGAGCCCAGCCAGGGCC CAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GGGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAG AGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCA GCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGG ACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAG CCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGA CCCAGCCAAGACCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGC GAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGC CCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCC AG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLGAP2_chr8_732628_1713476	1643890	C C	CAACCCGC others(521): Show CAACCCGCCGGCCCTCACCTGTGTCACCCTCCAACCCGCCGGCCCTCACC TGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCG CCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCA CCCTCGACCCCGCTGGTCCTCACCTGTGTCACCCTGGAACCCGCCGGTCC TCACCTGTGTCACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTCGA CCCCGCCGGTCCTCACCTGTGTCACCCCTCGAACCCGCCGGTCCTCACCT GTGTCACCCTCGAACCCGCCGGCCCTCACCTGTGTCACCCTCCAACCCGC CGGCCCCCACCTGTGTCACCCTCCAACCCGCCGGCCCTCACCTGTGTCAC CCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGTCCT CACCTGTGTCACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTGGAA CCCGCCGGTCCTCACCTGTGTCACCCTCG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	40	0.0250	528	c.181 others(549): Show c.1810+10854_1810+10855insCCCTCACCTGTGTCACCCTCCAAC CCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTG TCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGG CCCTCACCTGTGTCACCCTCGACCCCGCTGGTCCTCACCTGTGTCACCCT GGAACCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGTCCTCAC CTGTGTCACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCCTCGAACC CGCCGGTCCTCACCTGTGTCACCCTCGAACCCGCCGGCCCTCACCTGTGT CACCCTCCAACCCGCCGGCCCCCACCTGTGTCACCCTCCAACCCGCCGGC CCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTC GACCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGTCCTCACC TGTGTCACCCTGGAACCCGCCGGTCCTCACCTGTGTCACCCTCGAACCCG CCGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK8_chr9_209865_470255	400604	A A	ACCACCTC others(521): Show ACCACCTCCTCCATCACCACCACCATCTTCACCATCACCACCACCTCCAC CATCACCACCTCCTCCACCACCACCACCACCTCCACCACCACCACCACCT CCACCACCACCACCTCCACCACCACCACCTCCTCCACCATCACCACCACC TCCACCATCACCACCACCTCCACCACCACCACCTCCTCCACCATCACCAC CACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCA CCACCTCCACCACCACCACCTCCTCCACCATCACCACCACCTCCACCATC ACCACCACCTCCACCACCACCACCTCCTCCACCACCACCACCTCCTCCAC CACCACCACCTCCTCCACCACCACCACCACCTCCCCCACTACCAACAGCT CCTTCACCATCACCACAACATCCACCACCACCATCACCACCACCTCCACC ATCACCTCCACCACCACCACCTCCTCCACCATCACCACCAGCTCCACCAT CACCACCACCTCCACCATCACCACCACCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0008 a0008	a0008c0118 a0008c0118	a0008c0118t0001 a0008c0118t0001	a0008c0118t0001g0036 a0008c0118t0001g0036	1	256	0.0039	528	c.323 others(547): Show c.3234+1350_3234+1351insTCCTCCATCACCACCACCATCTTCAC CATCACCACCACCTCCACCATCACCACCTCCTCCACCACCACCACCACCT CCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCTCC TCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAC CTCCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCA CCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCTCCACCATC ACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCTCCAC CACCACCACCTCCTCCACCACCACCACCTCCTCCACCACCACCACCACCT CCCCCACTACCAACAGCTCCTTCACCATCACCACAACATCCACCACCACC ATCACCACCACCTCCACCATCACCTCCACCACCACCACCTCCTCCACCAT CACCACCAGCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCA CC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89634944	T T	TCCCTTCC others(521): Show TCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	250	0.0040	528	c.105 others(543): Show c.105-954_105-953insCCTTTCCCCTTCCTTCCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCT TCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EXOC2_chr6_480154_698139	528886	A A	AATAAATC others(521): Show AATAAATCCAGTGAGGACTTTGAAATTCCAAGTGGTGGTAACTAGCCGGA TGCAGAAGAACCCTAAGATAAATCCAGTGAGGACTTTGAAATTCCAAGTG GTGGTAACTAGCCGGATGCAGAAGAACCCTAAGATAAATCCAGTGAGGAC TTTGAAATTCCAAGTGGTGGTAACTAGCCGGATGCAGAAGAACCCTAAGA TAAATCCAGTGAGGACTTTGAAATTCCAAGTGGTGGTAACTAGCCGGATG CAGAAGAACCCTAAGATAAATCCAGTGAGGACTTTGAAATTCCAAGTGGT GGTAACTAGCCGGATGCAGAAGAACCCTAAGATAAATCCAGTGAGGACTT TGAAATTCCAAGTGGTGGTAACTAGCCGGATGCAGAAGAACCCTAAGATA AATCCAGTGAGGACTTTGAAATTCCAAGTGGTGGTAACTAGCCGGATGCA GAAGAACCCTAAGATAAATCCAGTGAGGACTTTGAAATTCCAAGTGGTGG TAACTAGCCGGATGCAGAAGAACCCTAAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01255.hp1 HG01261.hp1 others(2): Show HG00738.hp1 HG01255.hp1 HG01261.hp1 HG02486.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0049 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0049 a0001c0001t0001g0062 a0001c0001t0001g0249	5	272	0.0184	528	c.238 others(547): Show c.2380+3582_2380+3583insCTTAGGGTTCTTCTGCATCCGGCTAG TTACCACCACTTGGAATTTCAAAGTCCTCACTGGATTTATCTTAGGGTTC TTCTGCATCCGGCTAGTTACCACCACTTGGAATTTCAAAGTCCTCACTGG ATTTATCTTAGGGTTCTTCTGCATCCGGCTAGTTACCACCACTTGGAATT TCAAAGTCCTCACTGGATTTATCTTAGGGTTCTTCTGCATCCGGCTAGTT ACCACCACTTGGAATTTCAAAGTCCTCACTGGATTTATCTTAGGGTTCTT CTGCATCCGGCTAGTTACCACCACTTGGAATTTCAAAGTCCTCACTGGAT TTATCTTAGGGTTCTTCTGCATCCGGCTAGTTACCACCACTTGGAATTTC AAAGTCCTCACTGGATTTATCTTAGGGTTCTTCTGCATCCGGCTAGTTAC CACCACTTGGAATTTCAAAGTCCTCACTGGATTTATCTTAGGGTTCTTCT GCATCCGGCTAGTTACCACCACTTGGAATTTCAAAGTCCTCACTGGATTT AT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
FBXO47_chr17_38931432_38972403	38946669	T T	TATATAAA others(521): Show TATATAAATATATATAAATATATAAATATATAAAAATATATAAATATATA AATATATAAAAATATATAAATACATAAATATATAAATATATAAATATATA TACATAAATATATAAATATATAAATATATAAATATATAAATACATAATAT ATATAAATATAAAATATATATAATATATAAAATATATTAAAAATATAAAA ATATATATAAAAAATATATAAATATATAAAAATATATAAAAAATATATAC ACATATAAATATATATAAAAATATATAAATATATATAAAAATATATAAAT ATATATTATATATAAATATATAATATATAAATATATATAAATATATAAAT ATATATAAATATATACAATATATAAATATATATAAATATATACAATATAT AAATATATATAAATATATACAATATATAAATATATATAAATATATACAAT ATATAAATATATATAAATATATATAATATATAAATATATATAAATATATA CAATATATAAATATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00438.hp2 others(57): Show HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00642.hp2 HG01255.hp1 HG01256.hp1 HG01358.hp2 HG01952.hp2 HG02080.hp2 HG02155.hp2 HG02602.hp1 HG02698.hp1 HG02738.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 NA18612.hp1 NA18941.hp1 NA18944.hp2 NA18946.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp2 NA19070.hp2 NA19077.hp1 NA19080.hp1 NA19085.hp2 NA19090.hp1 NA19091.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0002 a0001c0001t0002g0145 a0001c0001t0002g0146 others(56): Show a0001c0001t0002g0002 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0190 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0006g0188 a0001c0001t0006g0189	60	344	0.1744	528	c.617 others(545): Show c.617-1534_617-1533insTATATATATTTATATATATTTATATATT GTATATATTTATATATATTTATATATTATATATATTTATATATATTTATA TATTGTATATATTTATATATATTTATATATTGTATATATTTATATATATT TATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATA TATTTATATATTTATATATATTTATATATTATATATTTATATATAATATA TATTTATATATTTTTATATATATTTATATATTTTTATATATATTTATATG TGTATATATTTTTTATATATTTTTATATATTTATATATTTTTTATATATA TTTTTATATTTTTAATATATTTTATATATTATATATATTTTATATTTATA TATATTATGTATTTATATATTTATATATTTATATATTTATATATTTATGT ATATATATTTATATATTTATATATTTATGTATTTATATATTTTTATATAT TTATATATTTATATATTTTTATATATTTATATATTTATATATATTTATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar

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