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
HELZ2_chr20_63553086_63579239	63571567	T T	TGCTCCAA others(554): Show TGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGCAGTGGGCTCCTGCC CCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGC CCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCT GCCCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCC TGCCCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTC CTGCCCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTACGGTGGGCT CCTGCCCTACTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGC TCCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTACGGTGGG CTCCTGCCCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGCAGTGG GCTCCTGCCCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTG GGCTCCTGCCCC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18953.hp1 NA19009.hp1 NA18943.hp1 NA18953.hp1 NA19009.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0059 a0002c0005t0065 a0002c0005t0006 a0002c0005t0059 a0002c0005t0065	a0002c0005t0006g0041 a0002c0005t0059g0285 a0002c0005t0065g0284 a0002c0005t0006g0041 a0002c0005t0059g0285 a0002c0005t0065g0284	3	390	0.0077	561	c.278 others(576): Show c.278+540_278+541insGGGGCAGGAGCCCACCACAGGCAGAGCCAG AGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACTGCAGGCAGAGCCA GAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACCGTAGGCAGAGCC AGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGC CAGAGGCTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACCGTAGGCAGAG CCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACCACAGGCAGA GCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACCGTAGGCAG AGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACAGGCA GAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACAGGC AGAGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACTGCAG GCAGAGCCAGAGGCTCCCAGGAGCTTGGAGC	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571585	G G	GCCTCTGG others(554): Show GCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGG AACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGG GAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCACTCCAAGCTCCTG GGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCTACTCCAAGCTCCT GGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCGCTCCAAGCTCC TGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCTGCTCCAAGCTC CTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCACTCCAAGCT CCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCTACTCCAAGC TCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCGCTCCAAG CTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCTGCTCCAA GCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCGCTCCA AGCTCCTGGGAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01243.hp2 HG01978.hp1 HG00099.hp2 HG01243.hp2 HG01978.hp1	a0003 a0057 a0003 a0057	a0003c0003 a0057c0074 a0003c0003 a0057c0074	a0003c0003t0001 a0003c0003t0003 a0057c0074t0023 a0003c0003t0001 a0003c0003t0003 a0057c0074t0023	a0003c0003t0001g0171 a0003c0003t0003g0172 a0057c0074t0023g0170 a0003c0003t0001g0171 a0003c0003t0003g0172 a0057c0074t0023g0170	3	390	0.0077	561	c.278 others(576): Show c.278+522_278+523insTTCCCAGGAGCTTGGAGCGGGGCAGGAGCC CACCACAGGCAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGC CCACCGTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAG CCCACCACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGA GCCCACCGTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGG AGCCCACCACAGGCAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAG GAGCCCACCGTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCA GGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGC AGGAGCCCACCGTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGG CAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGG GCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAG GGCAGGAGCCCACCACAGGCAGAGCCAGAGG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571726	A A	AAGCTCCT others(554): Show AAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCTC CAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCT CCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCAC TCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCTA CTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCC GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCC TGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGC CCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCT GCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02647.hp1 HG01109.hp2 HG02647.hp1	a0025 a0025	a0025c0026 a0025c0026	a0025c0026t0098 a0025c0026t0099 a0025c0026t0098 a0025c0026t0099	a0025c0026t0098g0236 a0025c0026t0099g0237 a0025c0026t0098g0236 a0025c0026t0099g0237	2	390	0.0051	561	c.278 others(576): Show c.278+381_278+382insGGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCA GAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAG GCAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACCGTA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCAC AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACCG TAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACC ACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCAC CACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCA CCACAGGCAGAGCCAGAGGCTCCCAGGAGCT	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571874	G G	GCTCCAAG others(554): Show GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCC CGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CTACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGC CCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCT GCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTC CTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCT CCTGCCCCGCTCCCAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGC TCCTGCCCCGCTCCCAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGG CTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGG GCTCCTGCCCTA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0113 a0006c0009t0002g0113	1	390	0.0026	561	c.278 others(576): Show c.278+233_278+234insTAGGGCAGGAGCCCACCGTAGGCAGAGCCA GAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCC AGAGGTTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAGC CAGAGGCTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAG CCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCAGA GCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCA GAGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACCACAG GCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(554): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGGAACCAATACA TACATGGAACATATATATGTGGAACCAATACATACATGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATCTGGAACCAATACATATACGGAACATATATATCTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATATGCAACATATATATGTGGAACCAATACATA TATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01978.hp2 HG04184.hp1 HG00323.hp2 HG01978.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0183 a0001c0001t0003g0170 a0001c0001t0003g0180 a0001c0001t0001g0183 a0001c0001t0003g0170 a0001c0001t0003g0180	3	323	0.0093	561	c.-36 others(572): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGGAACCAATACATACATGGAACATATATATGTGGAACCAATACATAC ATGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATCTGGAACCAATACATATACGGAACATATA TATCTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACAT ATACGGAACATATATATGTGGAACCAATACATATATGCAACATATATATG TGGAACCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(554): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGGAACCAATACA TACATGGAACATATATATGTGGAACCAATACATACATGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGACCCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGCAACATATATATGTGGAACCAATACATATATGCAACATATAT ATGTGGAACCAATACATATATGCAACATATATATGTGGAACCAATACATA TATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	323	0.0031	561	c.-36 others(572): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGGAACCAATACATACATGGAACATATATATGTGGAACCAATACATAC ATGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGACCCAATACATATACGGAACATATA TATGTGGAACCAATACATATACGCAACATATATATGTGGAACCAATACAT ATATGCAACATATATATGTGGAACCAATACATATATGCAACATATATATG TGGAACCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(554): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGGAACCAATACA TACATGGAACATATATATGTGGAACCAATACATATACGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATCTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATATGCAACATATAT ATGTGGAACCAATACATATATGCAACATATATATGTGGAACCAATACATA TATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	323	0.0031	561	c.-36 others(572): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGGAACCAATACATACATGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATCTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATA TATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACAT ATATGCAACATATATATGTGGAACCAATACATATATGCAACATATATATG TGGAACCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(554): Show GGGGCAGGGAGGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAG AGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGG CAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGACAG GCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGAGAGGAGGGGCAGGGA GAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGG GGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCA GGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGA GGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAAACGGGCA GGGAGGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGA GAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	204	0.0049	561	c.978 others(578): Show c.978-2481_978-2480insGCAGGGAGGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGCAGG GAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGA GACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGG CAGAGAGGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGA GAGAGGGGCAGGGAGGAGGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGA GGGGCAGGGGGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAG AGAGGGGCAAGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGG CAGGGAGGAGAAACGGGCAGGGAGGAGAGGGGCAGGGAGGACGGGCAGGG AGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(554): Show CTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTC CCCCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCCC CCCTCTCTCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCC CTCCCCCCTCCCCTCCCCCCTCTCTCCCCCTCCCCTCCCCCCTCTCTCCC CCTCCCCTCCCCCTCTCTCTCCCCCTCTCTCTCCCCCCTCCCCTCCCCCC TCTCCCCTCCCCCTCCCCCATCCCCCTCCCCCATCCCCCTCCCCCATCCC CCTCCCCCATCCCCCTCCCCCATCCCCCTCCCCCATCCCCCTCCCCCTCC TTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCT CTCTCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCC CCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCC CCCTCCTTCCCTCTCTCTCTCTCCCCCCCTTCCCTCTCTCTCTCTCCCCC TCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0011 a0005c0012t0011	a0005c0012t0011g0002 a0005c0012t0011g0002	1	158	0.0063	561	c.11 others(582): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCTCCCC CTCCCCTCCCCCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCC CCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCT CTCTCCCCCTCCCCCCTCCCCTCCCCCCTCTCTCCCCCTCCCCTCCCCCC TCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCTCTCTCCCCCCTCCC CTCCCCCCTCTCCCCTCCCCCTCCCCCATCCCCCTCCCCCATCCCCCTCC CCCATCCCCCTCCCCCATCCCCCTCCCCCATCCCCCTCCCCCATCCCCCT CCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCT CCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCT CTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCT CTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTTCCCTCTCTCTC TCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNQ2_chr20_63395208_63477655	63442773	T T	TTACCACC others(554): Show TTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCATCACCACCATCACCATCACTGTCACCACCACCACCACCA TCACCACCACCACCACCATCACCACCATCACCATCACCACCATCACCATC ACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCAT CACCACCACCACCACCATCACCACCACCACCACCACCATCACCACCATCA CCACCATCACCACCACCACCACCATCACCACCATCACCATCACCACCATC ACCATCACCACCATCACCATTACCACCACCATTACCACCACCATCACCAT CACCATCACCACCACCACCACCATCACCATCACCACCACCATCACCATTA TCACCACCACCATCACCACCATCACCACCACCACCATCACCATCACCACC ACCATCACCATTATCACCACCACCATCACCACCATCACCATCACCACCAT CACCATCACCAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0113 a0002c0001t0001g0113	1	330	0.0030	561	c.691 others(576): Show c.691-243_691-242insGTGGTGATGGTGATGGTGGTGATGGTGATG GTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTA ATGGTGGTGGTAATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTG GTGGTAATGGTGGTGGTAATGGTGATGGTGGTGATGGTGATGGTGGTGAT GGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA CAGTGATGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGT GATGGTGATGGTGGTGGTAATGGTGGTGGTA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
LAMB1_chr7_107918799_108008161	107976990	T T	TCTCTCCT others(554): Show TCTCTCCTTCCTTCCTTTCCTCTCCCTCCTTCCTTCCTTTCCTCTCCCTT CCTTCCTTTCCTCTCTCTCCTTCCTTCCTTTCCTCTCCCTCCTTCCTTCC TTTCCTCTTCCTCCTTCCTTCCTTTCCTCTCTCTCCTTCCTTCCTTTCCT CTCCCTCCGTCCTTCCTTTCCTCTTCCTCCTTCCTTCCTTTCCTCTCTCT CCTTCCTTCCTTTCCTCTCCCTCCTTCCTTCCTTTCCTCTCCCTCCTTCC TTCCTTTCCTCTCCCTCCTTCCTTCCTTTCCTCTCCCTCCTTCCTTCCTT TCCTCTCCCTCCTTCCTTCCTTTCCTCTCCCTCCTTCCTTCCTTTCCTCT CCCTCCTTCCTTCCTTTCCTCTCCCTCCTTCCTTCCTTTCCTCTCCCTCC TTCCTTCCTTTCCTCTCCCTCCTTCCTTCCTTTCCTCTCCCTCCTTCCTT CCTTTCCTCTCCCTCCTTCCTTCCTTTCCTCTCCCTCCTTCCTTCCTTTC CTCTCTCTCCTTCCTTCCTTTCCTCTCTTTTCCTTTTCTTTCCTCTCTCT CCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0334 a0002c0010t0001g0334	1	364	0.0028	561	c.100 others(580): Show c.1000+1056_1000+1057insGAGGAAGGAAGGAGAGAGAGGAAAGA AAAGGAAAAGAGAGGAAAGGAAGGAAGGAGAGAGAGGAAAGGAAGGAAGG AGGGAGAGGAAAGGAAGGAAGGAGGGAGAGGAAAGGAAGGAAGGAGGGAG AGGAAAGGAAGGAAGGAGGGAGAGGAAAGGAAGGAAGGAGGGAGAGGAAA GGAAGGAAGGAGGGAGAGGAAAGGAAGGAAGGAGGGAGAGGAAAGGAAGG AAGGAGGGAGAGGAAAGGAAGGAAGGAGGGAGAGGAAAGGAAGGAAGGAG GGAGAGGAAAGGAAGGAAGGAGGGAGAGGAAAGGAAGGAAGGAGGGAGAG GAAAGGAAGGAAGGAGGGAGAGGAAAGGAAGGAAGGAGAGAGAGGAAAGG AAGGAAGGAGGAAGAGGAAAGGAAGGACGGAGGGAGAGGAAAGGAAGGAA GGAGAGAGAGGAAAGGAAGGAAGGAGGAAGAGGAAAGGAAGGAAGGAGGG AGAGGAAAGGAAGGAAGGAGAGAGAGGAAAGGAAGGAAGGGAGAGGAAAG GAAGGAAGGAGGGAGAGGAAAGGAAGGAAGGAGAG	LAMB1	ENSG00000091136.15	transcript	ENST00000222399.11	protein_coding	9/33			chr7	TogoVar
LGR6_chr1_202188799_202324761	202205410	C C	CCAGCACA others(554): Show CCAGCACACACACCTAACACACACCTCCTTCAAACACACACCTCCACACA CACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACACA CACACCTAACACACACCTCCTTCAAACACACACACACCTAACACACCTCC TTCAAACACACACCCTCCAAACACACACACCTCCTTCAAGCACACACACA CCTCCAAACACACACACACCTAACACACACCTCCTCCAAGCACACACACA CCTCCAAACACACACACACCCAACACACGCCTCCTTCAAACACACACATC TCCAAACACACACACACAGCTAACACACACCTTCTTCAAACACACACACA CCCCTCCAAACACACACACACACCTCCTTCAAACACACACACCCTCCAAA CACACACACCTCCTTCAAACACACACACACACCTCCAAAGACACACACAC ACCTAACACACACCTTCAAACACACACACACCTCCAAACACACACACACC TAACACACACCTCCTCCAAACACACACACACCTCCACACACATACCTAAC ACACACCTCCTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	262	0.0038	561	c.212 others(580): Show c.212+11211_212+11212insGCACACACACCTAACACACACCTCCT TCAAACACACACCTCCACACACACACACCTAACACACACCTCCTTCAAAC ACACACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACAC ACACACACCTAACACACCTCCTTCAAACACACACCCTCCAAACACACACA CCTCCTTCAAGCACACACACACCTCCAAACACACACACACCTAACACACA CCTCCTCCAAGCACACACACACCTCCAAACACACACACACCCAACACACG CCTCCTTCAAACACACACATCTCCAAACACACACACACAGCTAACACACA CCTTCTTCAAACACACACACACCCCTCCAAACACACACACACACCTCCTT CAAACACACACACCCTCCAAACACACACACCTCCTTCAAACACACACACA CACCTCCAAAGACACACACACACCTAACACACACCTTCAAACACACACAC ACCTCCAAACACACACACACCTAACACACACCTCCTCCAAACACACACAC ACCTCCACACACATACCTAACACACACCTCCTTCA	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGR6_chr1_202188799_202324761	202205410	C C	CCAGCACA others(554): Show CCAGCACACACACCTAACACACACCTCCTTCAAACACACACCTCCACACA CACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACACACA CACCTAACACACACCTCCTTCAAACACACACACACCTAACACACCTCCTT CAAACACACACCCTCCAAACACACACACCTCCTTCAAGCACACACACACC TCCAAACACACACACACCTAACACACACCTCCTCCAAGCACACACACACC TCCAAACACACACACACCCAACACACGCCTCCTTCAAACACACACATCTC CAAACACACACACACAGCTAACACACACCTTCTTCAAACACACACACACC CCTCCAAACACACACACACACACCTCCTTCAAACACACACACCCTCCAAA CACACACACCTCCTTCAAACACACACACACACCTCCAAAGACACACACAC ACCTAACACACACCTTCAAACACACACACACCTCCAAACACACACACACC TAACACACACCTCCTCCAAACACACACACACCTCCACACACATACCTAAC ACACACCTCCTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0090 a0002c0006t0003g0090	1	262	0.0038	561	c.212 others(580): Show c.212+11211_212+11212insGCACACACACCTAACACACACCTCCT TCAAACACACACCTCCACACACACACCTAACACACACCTCCTTCAAACAC ACACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACACAC ACACACCTAACACACCTCCTTCAAACACACACCCTCCAAACACACACACC TCCTTCAAGCACACACACACCTCCAAACACACACACACCTAACACACACC TCCTCCAAGCACACACACACCTCCAAACACACACACACCCAACACACGCC TCCTTCAAACACACACATCTCCAAACACACACACACAGCTAACACACACC TTCTTCAAACACACACACACCCCTCCAAACACACACACACACACCTCCTT CAAACACACACACCCTCCAAACACACACACCTCCTTCAAACACACACACA CACCTCCAAAGACACACACACACCTAACACACACCTTCAAACACACACAC ACCTCCAAACACACACACACCTAACACACACCTCCTCCAAACACACACAC ACCTCCACACACATACCTAACACACACCTCCTTCA	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHPP_chr10_124456823_124619141	124471472	T T	TATTTTAT others(554): Show TATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATATTTATATATATTTATGTATA TTTATATATATTTATATATTTATGTATATATTTATATATATTTATATATT TATGTATAAATTTATATATATTTATATGTATTTATATATATTTATATGTA TTTATATATATTTATATATTTATATGTATTTATACATATATATTTATATG TATTTATATATATTTATATATATTTTTTATGTATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATATTTATATATAT ATATATTATTTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18906.hp1 HG02622.hp2 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0009 a0003c0003t0002g0012 a0003c0003t0002g0009 a0003c0003t0002g0012	2	260	0.0077	561	c.125 others(578): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATATTTATATATATTTATGTATATTTATATATAT ATTTATATATATTTATGTATATTTATATATATTTATATATTTATGTATAT ATTTATATATATTTATATATTTATGTATAAATTTATATATATTTATATGT ATTTATATATATTTATATGTATTTATATATATTTATATATTTATATGTAT TTATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTA TGTATTTATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATATTTATATATATATATATTATTTA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124507796	G G	GTGGGGGG others(554): Show GTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG GGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTG GAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGG AGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGTGG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGG TAGGCAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTA GACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAG ACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	260	0.0039	561	c.625 others(578): Show c.625-9384_625-9383insTGGGGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGAT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTCGGTGGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGGGGGGGTAGGCAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGGA TTTCAGGTGTGGAGGGTAGACAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364346	A A	ACATCTAC others(554): Show ACATCTACCTCCACACCCGCGCTTACACCCACACTTACATCTACCTCCAC ACCCACACTTACACTCACGCTTACATCTACCTCCACACCCACACTTACAC CCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTAC ACCCACACTTACATCTACCTCCACACCCACGCTTACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACGCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACAATTACACCCACGCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCC ACACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCAC ACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACAC CCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACCCTTAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0256 a0001c0002t0003g0256	1	290	0.0035	561	c.129 others(580): Show c.1290-1078_1290-1077insCATCTACCTCCACACCCGCGCTTACA CCCACACTTACATCTACCTCCACACCCACACTTACACTCACGCTTACATC TACCTCCACACCCACACTTACACCCACGCTTACATCTACCTCCACACCCA CACTTACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACC CACGCTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACA CCCACACTCACACCCACGCTTACATCTACCTCCACACCCACACTCACACC CACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAATTACA CCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTA CACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCTTACA TCTACCTCCACACCCACACTCACACCCACACTTACACCCACCCTTACATC TACCTCCACACCCACACTCACACCCACGCTTACATCTACCTCCACACCCA CACTCACACCCACCCACACTTACACCCACCCTTAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10			chr10	TogoVar
MBD3L3_chr19_7051207_7063676	7061870	T T	TATAATAT others(554): Show TATAATATATAATTATATTCTATATAGAATATAATTATATAATATATAAT TATATTAATATAATTATATATTATATAATATATAATATAATTATATATTA TATAATATATATATAATTTATATAATATAATTATATTATATATAATTATA TTAAATATATTATATAATATATAATTATATTATATATTATATAATATATA ATTATATTATATATTATATAATATATAATTATATTATATATTATAATACA TTTAATATAATTATATTATAGATTATAATCTATAATATAATTATATTAAT AGTATTATAATATATAATATATTATATATAATTATATTATAACATATTAT ATATAATTATATTATAGATCATAATCTATAATATAATTATATATAATATG TTATAATATATAATTATATTCTATATATAATTATATATAATATAATTATA TTCTGTATATAATTATATATAATATAATTATATTCTGTATATAATTATAT ATAATTATATTCTATATATAATATAATTATATATAATTATATACAGAATA TAATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0038 a0003c0003t0001g0038	1	288	0.0035	561	c.-32 others(572): Show c.-3266_-3265insTATATATAATTATATTCTGTATATAATTATATAT AATTATATTATATATAGAATATAATTATATATAATTATATACAGAATATA ATTATATTATATATAATTATATACAGAATATAATTATATTATATATAATT ATATATAGAATATAATTATATATTATAACATATTATATATAATTATATTA TAGATTATGATCTATAATATAATTATATATAATATGTTATAATATAATTA TATATAATATATTATATATTATAATACTATTAATATAATTATATTATAGA TTATAATCTATAATATAATTATATTAAATGTATTATAATATATAATATAA TTATATATTATATAATATATAATATAATTATATATTATATAATATATAAT ATAATTATATATTATATAATATATTTAATATAATTATATATAATATAATT ATATTATATAAATTATATATATATTATATAATATATAATTATATTATATA TTATATAATATATAATTATATTAATATAATTATATATTATATAATTATAT TCTATATAGAATATAATTATATATTAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3195		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061870	T T	TATAATAT others(554): Show TATAATATATAATTATATTCTATATAGAATATAATTATATAATATATAAT TATATTATATATTATATAATTATAATATAATTATATAATATAATTATATT ATATAATTATAATATAATTATATAATATAATTATATTATATATAATTATA TTAAATATATTATATAATATATAATTATATTATATATTATATAATATATA ATTATATTATATATTATATAATATATAATTATATTATATATTATAATACA TTTAATATAATTATATTATAGATTATAATCTATAATATAATTATATTAAT AGTATTATAATATATAATATATTATATATAATTATATTATAACATATTAT ATATAATTATATTATAGATCATAATCTATAATATAATTATATATAATATG TTATAATATATAATTATATTCTATATATAATTATATATAATATAATTATA TTCTGTATATAATTATATATAATATAATTATATTCTGTATATAATTATAT ATAATTATATTCTATATATAATATAATTATATATAATTATATACAGAATA TAATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG01081.hp2 others(11): Show HG00639.hp1 HG00741.hp2 HG01081.hp2 HG01943.hp2 HG02258.hp1 HG02300.hp1 HG03516.hp2 HG03831.hp2 HG03834.hp1 NA18946.hp2 NA18992.hp2 NA19002.hp1 NA20752.hp1 NA20805.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	14	288	0.0486	561	c.-32 others(572): Show c.-3266_-3265insTATATATAATTATATTCTGTATATAATTATATAT AATTATATTATATATAGAATATAATTATATATAATTATATACAGAATATA ATTATATTATATATAATTATATACAGAATATAATTATATTATATATAATT ATATATAGAATATAATTATATATTATAACATATTATATATAATTATATTA TAGATTATGATCTATAATATAATTATATATAATATGTTATAATATAATTA TATATAATATATTATATATTATAATACTATTAATATAATTATATTATAGA TTATAATCTATAATATAATTATATTAAATGTATTATAATATATAATATAA TTATATATTATATAATATATAATATAATTATATATTATATAATATATAAT ATAATTATATATTATATAATATATTTAATATAATTATATATAATATAATT ATATTATATAATTATATTATAATTATATAATATAATTATATTATATAATT ATATTATAATTATATAATATATAATATAATTATATATTATATAATTATAT TCTATATAGAATATAATTATATATTAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3195		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061870	T T	TATAATAT others(554): Show TATAATATATAATTATATTCTATATAGAATATAATTATATAATATATAAT TATATTATATATTATATAATTATAATATAATTATATTATATAATTATATT ATATAATTATAATATAATTATATAATATAATTATATTATATATAATTATA TTAAATATATTATATAATATATAATTATATTATATATTATATAATATATA ATTATATTATATATTATATAATATATAATTATATTATATATTATAATACA TTTAATATAATTATATTATAGATTATAATCTATAATATAATTATATTAAT AGTATTATAATATATAATATATTATATATAATTATATTATAACATATTAT ATATAATTATATTATAGATCATAATCTATAATATAATTATATATAATATG TTATAATATATAATTATATTCTATATATAATTATATATAATATAATTATA TTCTGTATATAATTATATATAATATAATTATATTCTGTATATAATTATAT ATAATTATATTCTATATATAATATAATTATATATAATTATATACAGAATA TAATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	288	0.0035	561	c.-32 others(572): Show c.-3266_-3265insTATATATAATTATATTCTGTATATAATTATATAT AATTATATTATATATAGAATATAATTATATATAATTATATACAGAATATA ATTATATTATATATAATTATATACAGAATATAATTATATTATATATAATT ATATATAGAATATAATTATATATTATAACATATTATATATAATTATATTA TAGATTATGATCTATAATATAATTATATATAATATGTTATAATATAATTA TATATAATATATTATATATTATAATACTATTAATATAATTATATTATAGA TTATAATCTATAATATAATTATATTAAATGTATTATAATATATAATATAA TTATATATTATATAATATATAATATAATTATATATTATATAATATATAAT ATAATTATATATTATATAATATATTTAATATAATTATATATAATATAATT ATATTATATAATTATATTATAATTATATAATATAATTATATAATATAATT ATATTATAATTATATAATATATAATATAATTATATATTATATAATTATAT TCTATATAGAATATAATTATATATTAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3195		chr19	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(554): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGA TTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTG TGTTTGGTGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAG TGTGGTTGGTGGGGGAGTGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGT GTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTG TGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGT GTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGATG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp1 HG01070.hp2 others(7): Show HG00735.hp1 HG01069.hp1 HG01070.hp2 HG01099.hp1 HG01192.hp2 HG01952.hp1 HG01993.hp1 HG02293.hp1 HG02486.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0020 a0002c0002t0001 a0002c0002t0020 a0001c0001t0020 a0002c0002t0001 a0002c0002t0020	a0001c0001t0020g0148 a0002c0002t0001g0005 a0002c0002t0001g0309 others(6): Show a0001c0001t0020g0148 a0002c0002t0001g0005 a0002c0002t0001g0309 a0002c0002t0001g0311 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0020g0312	10	360	0.0278	561	c.57+ others(578): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGG GGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTG GGGGAGTGTGGTTGGTGGGGGAGTGTGGTTTGTGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTGGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGG GGGAGTGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGG GGAGTGTGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATG GGGAGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(554): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGA TTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTG TGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGT GTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGT GTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTG TGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGT GTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGATG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0012 a0003c0003t0003g0012	1	360	0.0028	561	c.57+ others(578): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGG GGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGG GGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGG GGGAGTGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGG GGAGTGTGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATG GGGAGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MPPED1_chr22_43407014_43512848	43500130	G G	GTGGTGGG others(554): Show GTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGT GGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGG TGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTG GTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGAT GGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGTGGGGG TGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTG ATGGAGGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGATGGG GGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGG TGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTG ATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGA GGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGG TGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0114 a0001c0004t0001g0114	1	250	0.0040	561	c.748 others(578): Show c.748+1784_748+1785insGGGGGTGATGGTGGTGATGGTGATGGAG GTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGT GGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGG TGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTG GTGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGAT GGAGGTGGTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGA TGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTGGTG ATGGGGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGAT GGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGG TGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTG GTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGAT GGAGGTGGTGATGGGGGTGGTGGTGGTGATGGT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500145	G G	GTGGGGGT others(554): Show GTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGT GATGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTG GTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGA GGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGGGGTGATGG TGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAG GTGGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGT GGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGG TAGTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGGGGTGATGGTGGTG ATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGT GGTGGTGATGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGA TGGAGGTGGTGA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0209 a0001c0001t0007g0209	1	250	0.0040	561	c.748 others(578): Show c.748+1803_748+1804insATGGTGGTGATGGTGATGGAGGTGGCAG TGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTG GTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGT GGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGG TGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTG GTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGT GATGGTGATGGAGGTGGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGG TGGTGGTGGAGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATG GTGATGGAGGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGG GGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGG TGATGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTAATGGAGGTGGTG GTGGAGGTGGTGATGGAGGTGGTGATGGGGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATATA others(554): Show AATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTAT ATATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTATAT TTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTT ATATTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0051 a0001c0002t0002g0051	1	350	0.0029	561	c.-28 others(572): Show c.-2892_-2891insATATATAAAAATTTATATTTATATATCATAAATA AAAATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTT ATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYRIP_chr3_39804609_40265321	40203779	T T	TTATATAG others(554): Show TTATATAGTATATATGTGATATATTTATATATAAATATATGTGATATATT TATATATAAATATTTATATTTTATATATTTATATATTTTATATATTTATA TATAAATATTTATATTTTATATATTTATATATTTTATGATTTTATAAAAT ATATAATTTATATAATTTATAAATTATATAATTTATATATTATATATAAT ATGTTTATATTAAATATTATATATTATATATTATATATTATATATTTATA TTAAATATTATATATTTAATATAATATATAATATATTTATATTAAATATT ATATATTTATATATTATATATATTTATATTAAATATTATATATTTATATA TTATTTATATTTATATTAAATATTATATATTTATATATTATATATATTTA TATTAAATATTATATATTTATATATTATATATATTTATATTAAATATTAT ATATTTATATATTATATATAATATATTTATATTGAATATTATATATTTAT ATATTATATATAATATATTTATATTGAATATTATATATTTATATATTATA TAAATATATATG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG02886.hp2 others(2): Show HG02451.hp1 HG02559.hp2 HG02886.hp2 HG03486.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0011 a0001c0004 a0002c0011	a0001c0004t0003 a0002c0011t0001 a0002c0011t0003 a0001c0004t0003 a0002c0011t0001 a0002c0011t0003	a0001c0004t0003g0023 a0001c0004t0003g0165 a0002c0011t0001g0159 others(2): Show a0001c0004t0003g0023 a0001c0004t0003g0165 a0002c0011t0001g0159 a0002c0011t0001g0160 a0002c0011t0003g0034	5	170	0.0294	561	c.166 others(580): Show c.1666-6072_1666-6071insATAGTATATATGTGATATATTTATAT ATAAATATATGTGATATATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATAT ATTTTATGATTTTATAAAATATATAATTTATATAATTTATAAATTATATA ATTTATATATTATATATAATATGTTTATATTAAATATTATATATTATATA TTATATATTATATATTTATATTAAATATTATATATTTAATATAATATATA ATATATTTATATTAAATATTATATATTTATATATTATATATATTTATATT AAATATTATATATTTATATATTATTTATATTTATATTAAATATTATATAT TTATATATTATATATATTTATATTAAATATTATATATTTATATATTATAT ATATTTATATTAAATATTATATATTTATATATTATATATAATATATTTAT ATTGAATATTATATATTTATATATTATATATAATATATTTATATTGAATA TTATATATTTATATATTATATAAATATATATGTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCK2_chr2_105739912_105899272	105807771	C C	CCTCCCTC others(554): Show CCTCCCTCCCTCCCTTCTCTCCCTCCCTCCCTCCCTTCCCTCTATCCCTC CCTCCCTCCCTCCCTTCTCTCCCTCCCTCCCTCCCTTCCCTCTATCCCTC CCTCCCTCCCTTCTCTCTCTCCCTCCCTCCCTTCTATCTCTCCCTCCCTC CCTCCCTTCTATCTCTCCCTCCCTCCCTCCCTTCTCTCTATCTCTCCCTC CCTCCCTTCTCTCTATCTCTCCCTCCCTCCCTCCCTTCTCTCTCTCCCTC CCTTCCCTCTATCCCTCCCTCCCTCCCTCCCTTCTCTCTCTCCCTCCCTC CCTTCTATCTCTCCCTCCCTCCCTTCTCTCTCTCCCTCCCTCCCTTCTAT CTCTCCCTCCCTCCCTTCTCTCTCTCCCTCCCTCCCTTCTCTCTCTCCCT CCCTCCCTTCTCTCTCTCCCTCCCTCCCTTCTATCTCTCCCTCCCTCCCT TCTCTCTCTCCCTCCCTCCCTTCTCTCTCTCCCTCCCTCCCTTCTCTCTC TCCCTCCCTCCCTTCTATCTCTCCCTCCCTCCCTTCTCTCTCTCCCTCCC TCCCTTCTCTCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0274 a0001c0006t0002g0274	1	334	0.0030	561	c.-20 others(580): Show c.-200-8639_-200-8638insCCTCCCTCCCTCCCTTCCCTCTATCC CTCCCTCCCTCCCTCCCTTCTCTCCCTCCCTCCCTCCCTTCCCTCTATCC CTCCCTCCCTCCCTTCTCTCTCTCCCTCCCTCCCTTCTATCTCTCCCTCC CTCCCTCCCTTCTATCTCTCCCTCCCTCCCTCCCTTCTCTCTATCTCTCC CTCCCTCCCTTCTCTCTATCTCTCCCTCCCTCCCTCCCTTCTCTCTCTCC CTCCCTTCCCTCTATCCCTCCCTCCCTCCCTCCCTTCTCTCTCTCCCTCC CTCCCTTCTATCTCTCCCTCCCTCCCTTCTCTCTCTCCCTCCCTCCCTTC TATCTCTCCCTCCCTCCCTTCTCTCTCTCCCTCCCTCCCTTCTCTCTCTC CCTCCCTCCCTTCTCTCTCTCCCTCCCTCCCTTCTATCTCTCCCTCCCTC CCTTCTCTCTCTCCCTCCCTCCCTTCTCTCTCTCCCTCCCTCCCTTCTCT CTCTCCCTCCCTCCCTTCTATCTCTCCCTCCCTCCCTTCTCTCTCTCCCT CCCTCCCTTCTCTCTCTCCCTCCCTCCCTTCTCTC	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(554): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATACAGCATG TATACTGTATACAGCATGTATACTGTATGTATGTATACTGTATGTATGTA TACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTA TGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATG TATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTA TACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATAC TGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGT ATGTATACTGTATATATACACTATACAGTATGTATACTGTATATATACAC ACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATATAC ACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATAT ACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATAT ATACACACAGTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0238 a0001c0001t0016g0238	1	362	0.0028	561	c.-75 others(580): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAG TATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTAT GTATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCA TGCAGTATGTATACAGTATACATACTGCATGCAGTATACATACTGTGTAT ATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACATACAGTATACATACATACAGTATACATACATACAGT ATACATACATACAGTATACATGCTGTATACAGTATACATGCTGTATACAG TATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(554): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATAC CGTATATATACACAGTATGTATACTGTGTATGCAGTATGTATACAGTATA CATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTAT ACTGTATATATACACTATACAGTATGTATACTGTATATATACACTATACA GTATGTATACTGTATATATACACTATACAGTATGTATACTGTATATATAC ACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATAT ACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATAT ATACACACAGTA	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18964.hp1 HG02129.hp2 NA18964.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0169 a0001c0003t0005g0170 a0001c0003t0005g0169 a0001c0003t0005g0170	2	362	0.0055	561	c.-75 others(580): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATAT ATACAGTATACATACTGTATAGTGTATATATACAGTATACATACTGCATG CAGTATGTATACAGTATACATACTGCATGCAGTATGTATACTGTATACAT ACTGCATACACAGTATACATACTGTGTATATATACGGTATACATACTGTG TATATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTA TATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATA TATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATA TACGGTATACATACATACAGTATACATACATACAGTATACATACATACAG TATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(554): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGACAGGGAGA GGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGA GGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAG GGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGGAGGGAG AGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGA TGGGGGAGGGGGAGGGAGAGGGATGGGGAGGGAGAGGGATGGGGGAGGGA GAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGA GAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGA GAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01358.hp2 HG02109.hp1 others(5): Show HG00323.hp1 HG01358.hp2 HG02109.hp1 HG02280.hp2 HG02615.hp1 HG02970.hp1 HG03017.hp2 HG03704.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0021 a0001c0006t0044 a0001c0006t0014 a0001c0006t0021 a0001c0006t0044	a0001c0006t0014g0252 a0001c0006t0014g0254 a0001c0006t0014g0266 others(5): Show a0001c0006t0014g0252 a0001c0006t0014g0254 a0001c0006t0014g0266 a0001c0006t0014g0267 a0001c0006t0021g0021 a0001c0006t0021g0159 a0001c0006t0021g0257 a0001c0006t0044g0174	8	386	0.0207	561	c.92 others(572): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTTTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTC CCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCT CCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCT CCCTCTCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCCCTCC CTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCTCCCTCTCC CTCCCTCTCCCTGTCCCTCTCCCTCCCCCTCCCTCCCCTCCCGCCCCCTC CCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCC TCTCCCTCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCTC CCTCCCTCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTCC CCCTCCCTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCTC CCTGTCCCCCCTCTCCCCCTCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3705		chr12	TogoVar
PCNT_chr21_46319156_46450769	46404022	G G	GTGTGTGT others(554): Show GTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGG GAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACAC AGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAA TGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCT CGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGC GCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGC CCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGT GTGTGGTGCCCACGCGGCGCGTACTCGGTGAATGAACACAGCGTGGGAGA GGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTG TGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGG AGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACA GCGTGGGAGAAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp2 HG02970.hp1 others(2): Show HG02886.hp1 HG02922.hp2 HG02970.hp1 HG03710.hp1 NA18906.hp1	a0005 a0039 a0005 a0039	a0005c0024 a0005c0069 a0039c0068 a0005c0024 a0005c0069 a0039c0068	a0005c0024t0001 a0005c0069t0001 a0039c0068t0001 a0005c0024t0001 a0005c0069t0001 a0039c0068t0001	a0005c0024t0001g0070 a0005c0024t0001g0071 a0005c0024t0001g0072 others(2): Show a0005c0024t0001g0070 a0005c0024t0001g0071 a0005c0024t0001g0072 a0005c0069t0001g0095 a0039c0068t0001g0069	5	332	0.0151	561	c.511 others(580): Show c.5115+1547_5115+1548insGTGCCCACGCGGCGCGTGCTCGGTGA ATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGC TCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGG CGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCC CACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTG TGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATT GTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGT GGGAGAATTGTGTGTGTGTGGTGCCCACGCGGCGCGTACTCGGTGAATGA ACACAGCGTGGGAGAGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACAC AGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAA TGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCT CGGTGAATGAACACAGCGTGGGAGAATTGTGTGTG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	27/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46404022	G G	GTGTGTGT others(554): Show GTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGG GAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACAC AGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAA TGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCT CGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGC GCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGC CCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGT GTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGA GGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTG TGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGG AGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACA GCGTGGGAGAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG01978.hp2 others(4): Show HG01884.hp2 HG01891.hp1 HG01978.hp2 HG02109.hp2 HG02486.hp1 HG02615.hp1 HG03195.hp2	a0004 a0040 a0041 a0004 a0040 a0041	a0004c0004 a0004c0071 a0040c0072 others(1): Show a0004c0004 a0004c0071 a0040c0072 a0041c0074	a0004c0004t0001 a0004c0071t0001 a0040c0072t0001 others(1): Show a0004c0004t0001 a0004c0071t0001 a0040c0072t0001 a0041c0074t0001	a0004c0004t0001g0096 a0004c0004t0001g0097 a0004c0004t0001g0102 others(4): Show a0004c0004t0001g0096 a0004c0004t0001g0097 a0004c0004t0001g0102 a0004c0004t0001g0105 a0004c0071t0001g0106 a0040c0072t0001g0107 a0041c0074t0001g0108	7	332	0.0211	561	c.511 others(580): Show c.5115+1547_5115+1548insGTGCCCACGCGGCGCGTGCTCGGTGA ATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGC TCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGG CGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCC CACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTG TGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATT GTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGT GGGAGAATTGTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGA ACACAGCGTGGGAGAGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACAC AGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAA TGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCT CGGTGAATGAACACAGCGTGGGAGAATTGTGTGTG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	27/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE10A_chr6_165322289_165668241	165619364	G G	GTAGTGTA others(554): Show GTAGTGTAGTCTAGTATAGTGTAGTGTAGTGTAGTCTAGTGTAGCCTAGT GTAGTGTAGGCTAGGGTAGGCTAGTGTAGGCTAGTGTAGTGTAGTAGTGT AGTCTAGTGTAGTGTAGTCTAGTGTAGTCTAGTATAGTGTAGTGTAGTCT AGTGTACTGTAGTGTAGTATAGTGTAGTCTAGTGTGGTGTGGTGTGGTGT AGTGTAGTCTAGTGTAGTCTAGTGTACTGTAGTGTAGTGCAGTGTAGTCT AGTGTAGTACAGTCTAGTGTAGTCTAGTATAGTGTAGTCCAGTGTAGTGT AGTATAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTCTAGTGTAGTCT AGTGTACTGTAGTGTAGTGTAGTGTAGTCTAGTGTAGTGTAGTGTAGTCT AGTGTAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTCTAGTGTAGTGT AGTCTAGTGTACTGTAGTGTAATGTAGTCTAGTCTAGTGTAGTCTAGTGT ACTGTAGTGTAGTGCATTGGTCTAGTGCAGTGTAGTCTAGTGTAGTACAG TCTAGTGTAGTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03471.hp2 HG02622.hp1 HG03471.hp2	a0001 a0001	a0001c0009 a0001c0021 a0001c0009 a0001c0021	a0001c0009t0005 a0001c0021t0003 a0001c0009t0005 a0001c0021t0003	a0001c0009t0005g0076 a0001c0021t0003g0085 a0001c0009t0005g0076 a0001c0021t0003g0085	2	222	0.0090	561	c.865 others(580): Show c.865+42582_865+42583insGACTACACTAGACTGTACTACACTAG ACTACACTGCACTAGACCAATGCACTACACTACAGTACACTAGACTACAC TAGACTAGACTACATTACACTACAGTACACTAGACTACACTACACTAGAC TACACTACACTACACTACAGTACACTAGACTACACTAGACTACACTACAC TACACTAGACTACACTACACTACACTACAGTACACTAGACTACACTAGAC TACACTACACTACACTACAGTACACTAGACTATACTACACTACACTGGAC TACACTATACTAGACTACACTAGACTGTACTACACTAGACTACACTGCAC TACACTACAGTACACTAGACTACACTAGACTACACTACACCACACCACAC CACACTAGACTACACTATACTACACTACAGTACACTAGACTACACTACAC TATACTAGACTACACTAGACTACACTACACTAGACTACACTACTACACTA CACTAGCCTACACTAGCCTACCCTAGCCTACACTACACTAGGCTACACTA GACTACACTACACTACACTATACTAGACTACACTA	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PDXK_chr21_43714129_43767299	43743497	T T	TTGCACCC others(554): Show TTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACACCTCG CCTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACACCTC ACTTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACACCT CACTTGCACCCACCTCCCTCCCCCCAGCCCCCGAGCACTGTGGGGACACC TCACTTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACAC CTCGCCTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACA CCTCACTTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGAC ACCTCACTTGCACCCACCTCCCTCCCCCCAGCCCCCGAGCACTGTGGGGA CACCTCACTTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGG ACACCTCGCCTGCACCCACCTCCCTCCCCCCAGCCCCCGAGCACTGTGGG GACACCTCACTTGCACCCACCTCCCTCCCCCCAGCCCCCGAGCACTGTGG GGACACCTCGCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	358	0.0028	561	c.248 others(576): Show c.248-155_248-154insAGCCCCTGAGCACTGTGGGGACACCTCACT TGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACACCTCAC TTGCACCCACCTCCCTCCCCCCAGCCCCCGAGCACTGTGGGGACACCTCA CTTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACACCTC GCCTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACACCT CACTTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACACC TCACTTGCACCCACCTCCCTCCCCCCAGCCCCCGAGCACTGTGGGGACAC CTCACTTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACA CCTCGCCTGCACCCACCTCCCTCCCCCCAGCCCCCGAGCACTGTGGGGAC ACCTCACTTGCACCCACCTCCCTCCCCCCAGCCCCCGAGCACTGTGGGGA CACCTCGCCTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGG ACACCTCGCCTGCACCCACCTCCCTCCCCCC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(554): Show GAAAAAAGAGAGAAGAAGAAAGAAATAGAAGAAGGGAGAAGGAAGAAGGA AGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAAAGAAGAA GAAGAAGGAAGAAGGAGGAAGAAGGAAGAAAAAGGAAGAAGGAAGAAGAA GAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGAAGAAGAA GGAAGAAGAAGAAAGAAGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAA GGAAGAAGAAGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGA AGAAGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGA AGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAG AAGAAAGAAAGAAGAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGG AAGAGGAAGAAAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAA GAAGGAAGAAGAAGAAGGAAGAAGAAGAAGGAAGAAGAAGAAGGAAGAAG GAAGAAGAAGGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02897.hp1 others(3): Show HG02630.hp2 HG02647.hp1 HG02897.hp1 HG02922.hp1 HG03540.hp2 NA19030.hp2	a0003 a0004 a0003 a0004	a0003c0021 a0004c0007 a0003c0021 a0004c0007	a0003c0021t0001 a0004c0007t0002 a0003c0021t0001 a0004c0007t0002	a0003c0021t0001g0125 a0003c0021t0001g0126 a0004c0007t0002g0018 others(3): Show a0003c0021t0001g0125 a0003c0021t0001g0126 a0004c0007t0002g0018 a0004c0007t0002g0019 a0004c0007t0002g0181 a0004c0007t0002g0182	6	188	0.0319	561	c.147 others(580): Show c.1473+1827_1473+1828insTCCTTCTTCTTCCTTCTTCCTTCTTC TTCTTCCTTCTTCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCT TCCTTCTTTCTTCTTCCTTCTTCTTTTCTTCCTCTTCCTTTTTTCTTCTT CCTTTCTTCTTTCTTCTTCTTTCTTCTTTCTTTCTTCTTCTTCCTTCTTC TTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTTTTCTTCCTT CTTGTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTCTTCTTTCTTCCT TCTTCCTTCTCCTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCTTTCTTCT TCCTTCTTCCTTCTTCTTCTTCTTTCTTCTTCTTCCTTCTTCTTCTTTCT TCCTTCTTTTTCTTCCTTCTTTTTCCTTCTTCCTTCTTCTTCTTCCTTCT TCCTTTTTCTTCCTTCTTCCTCCTTCTTCCTTCTTCTTCTTCTTTCTGCT TCTTCTTCCTTCTTCTTCCTTCTTCTTCTTTCTTCTTCCTTCTTCCTTCT CCCTTCTTCTATTTCTTTCTTCTTCTCTCTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(554): Show GAAAAAAGAGAGAAGAAGAAAGAAATAGAAGAAGGGAGAAGGAAGAAGGA AGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAAAGAAGAA GAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAA GAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGAAGAAGAA GGAAGAAGAAGAAAGAAGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAA GGAAGAAGAAGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGA AGAAGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGA AGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAG AAGAAAGAAAGAAGAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGG AAGAGGAAGAAAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAA GAAGGAAGAAGAAGAAGGAAGAAGAAGAAGGAAGAAGAAGAAGGAAGAAG GAAGAAGAAGGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03579.hp2 HG03130.hp1 HG03579.hp2	a0010 a0021 a0010 a0021	a0010c0013 a0021c0057 a0010c0013 a0021c0057	a0010c0013t0001 a0021c0057t0001 a0010c0013t0001 a0021c0057t0001	a0010c0013t0001g0166 a0021c0057t0001g0167 a0010c0013t0001g0166 a0021c0057t0001g0167	2	188	0.0106	561	c.147 others(580): Show c.1473+1827_1473+1828insTCCTTCTTCTTCCTTCTTCCTTCTTC TTCTTCCTTCTTCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCT TCCTTCTTTCTTCTTCCTTCTTCTTTTCTTCCTCTTCCTTTTTTCTTCTT CCTTTCTTCTTTCTTCTTCTTTCTTCTTTCTTTCTTCTTCTTCCTTCTTC TTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTTTTCTTCCTT CTTGTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTCTTCTTTCTTCCT TCTTCCTTCTCCTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCTTTCTTCT TCCTTCTTCCTTCTTCTTCTTCTTTCTTCTTCTTCCTTCTTCTTCTTTCT TCCTTCTTTTTCTTCCTTCTTTTTCCTTCTTCCTTCTTCTTCTTCCTTCT TCCTTCTTCTTCCTTCTTCCTCCTTCTTCCTTCTTCTTCTTCTTTCTGCT TCTTCTTCCTTCTTCTTCCTTCTTCTTCTTTCTTCTTCCTTCTTCCTTCT CCCTTCTTCTATTTCTTTCTTCTTCTCTCTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
RASA3_chr13_113972783_114137623	114099721	G G	GCCCCCCA others(554): Show GCCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCCACAGCAGC CCCCCCACAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCACCC CCCACAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCACA GCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCC CCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCCACAGCAGCCCCCC CACAGCACCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCACCCCCCAC AGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCACAGCCCC CCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCCACA GCAGCCCCCCCACAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAG CACCCCCCACAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCC CCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCCACA GCAGCCCCCCCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0001 a0002c0004t0004g0001	1	67	0.0149	561	c.56- others(578): Show c.56-25885_56-25884insTGGGGGGGCTGCTGTGGGGGGCTGTGGG GGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGCTGTGGGGGGGCT GCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGTGCTGTGGGGGGGCTGCT GTGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGG GGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGCTG TGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGTGCTGTGG GGGGGCTGCTGTGGGGGGCTGTGGGGGTGCTGTGGGGGGGCTGCTGTGGG GGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGC TGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGCTGTGGGG GGGCTGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGTGCTGTGGGGGGG CTGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCT GTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(554): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAA GGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGG AGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGG AAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGG GGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGG AGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAG GGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGG GAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0005 a0003c0004t0001g0005	1	318	0.0031	561	c.36 others(572): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGG AGGGAGGAGGGGAGGGGGGAGAGGGGGGGAGGGGGAGAGGGGAGGAGGGG AGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAG GGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGG GAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGGGAG GAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGG GAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGA GGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGG GACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
SAMD12_chr8_118372984_118626963	118469531	T T	TATCATAT others(554): Show TATCATATATTATATATAATATATAATATATATTATATATAATATATTAT ATATAATATATAATATATAATATATAATATATAATATATTATATATAATA TATAATATATATTATATATAATATATAATATATATTATATATAATATATA ATATATATTATATATAATATATATTATATATAATATATATTATATATAAT ATATATTATATATTATATATAATATATAATATATATTATATATAATATAT ATTATATGTTATATATAATATATAAATATATATTATATATAATATATAAT ATATATTATATATAATATATTATATATTATATATAATATATATTATATAT AATATATATTATATATTATATATAATATATATTATATATTATATATAATA TATTATATATTATATATAATATATATTATATATAATATATAATATTATAT ATATATAATATATAATATATAAATATATATTATATATTATATATAATATA TAATATATTATATATATATTTAATATATATTTTATATATAAATATATATT ATATATATTTAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0039 a0001c0003t0002g0039	1	188	0.0053	561	c.193 others(580): Show c.193-29571_193-29570insTTAAATATATATAATATATATTTATA TATAAAATATATATTAAATATATATATAATATATTATATATTATATATAA TATATAATATATATTTATATATTATATATTATATATATATAATATTATAT ATTATATATAATATATATTATATATAATATATAATATATTATATATAATA TATAATATATATTATATATAATATATAATATATATTATATATAATATATA TTATATATAATATATAATATATTATATATAATATATATTATATATTATAT ATAATATATATTTATATATTATATATAACATATAATATATATTATATATA ATATATATTATATATTATATATAATATATAATATATATTATATATAATAT ATATTATATATAATATATATTATATATAATATATATTATATATTATATAT AATATATATTATATATTATATATAATATATATTATATATTATATATAATA TATTATATATTATATATTATATATTATATATTATATATAATATATTATAT ATAATATATATTATATATTATATATAATATATGAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SDK1_chr7_3296252_4274000	3976366	C C	CAGAGGGT others(554): Show CAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGC CACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTG CCACGCAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0068 a0001c0067t0068	a0001c0067t0068g0001 a0001c0067t0068g0001	1	116	0.0086	561	c.199 others(580): Show c.1994+1845_1994+1846insGGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGC CACGCAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTG CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGTAGAGGGTCCTCCAGAGAATCACTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(554): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACACAGGGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGC TGAGGCTGCGAGGCTACCACACAGACGGTCCTCCAGAGAATCACTGGGGG TCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGG GTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGG GGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0021 a0001c0007t0021	a0001c0007t0021g0110 a0001c0007t0021g0110	1	116	0.0086	561	c.199 others(580): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGGGGGCCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTACCACACAGACG GTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAG GGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGA GGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387779	A A	AAATATAA others(554): Show AAATATAAATATATTATATATTATATATAAATATAAATATATTATATATA TTATATATAAATATAAATATATTATATATATTATATATAAATATAAATAT ATTATATATATTATATATAAATATAAATATATTATATATATTATATATAA TATAAATATATTATATATATTATATATAATATAAATATATTATATATATT ATATATAAATATAAATATATTATATATATTATATATAAATATAAATATAT TATATATATTATATATAAATATAAATATATTATATATATTATATATAAAT ATAAATATATTATATATATTATATATAAATATAAATATATTATATATATT ATATATAAATATAAATATATTATATATATTATATATAATATAAATATATT ATATATATTATATATAATATAAATATATTTATATATTATATATAATATAA ATATATTTATATATTATATATAAATATAAATATATTATATATATTATATA TAAAATATAAATATATTATATATATTATATATAAATATAAATATATTATA TATATTATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03688.hp1 HG00099.hp2 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0099 a0002c0002t0001g0100	2	346	0.0058	561	c.-70 others(578): Show c.-70-5184_-70-5183insATATATAATATATATAATATATTTATAT TTATATATAATATATATAATATATTTATATTTTATATATAATATATATAA TATATTTATATTTATATATAATATATAAATATATTTATATTATATATAAT ATATAAATATATTTATATTATATATAATATATATAATATATTTATATTAT ATATAATATATATAATATATTTATATTTATATATAATATATATAATATAT TTATATTTATATATAATATATATAATATATTTATATTTATATATAATATA TATAATATATTTATATTTATATATAATATATATAATATATTTATATTTAT ATATAATATATATAATATATTTATATTTATATATAATATATATAATATAT TTATATTATATATAATATATATAATATATTTATATTATATATAATATATA TAATATATTTATATTTATATATAATATATATAATATATTTATATTTATAT ATAATATATATAATATATTTATATTTATATATAATATATATAATATATTT ATATTTATATATAATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387779	A A	AAATATAA others(554): Show AAATATAAATATATTATATATTATATATAAATATAAATATATTATATATA TTATATATAAATATAAATATATTATATATATTATATATAAATATAAATAT ATTATATATATTATATATAATATAAATATATTATATATATTATATATAAT ATAAATATATTATATATATTATATATAAATATAAATATATTATATATATT ATATATAAATATAAATATATTATATATATTATATATAAATATAAATATAT TATATATATTATATATAAATATAAATATATTATATATATTATATATAAAT ATAAATATATTATATATATTATATATAAATATAAATATATTATATATATT ATATATAAATATAAATATATTATATATATTATATATAATATAAATATATT ATATATATTATATATAATATAAATATATTTATATATTATATATAATATAA ATATATTTATATATTATATATAAATATAAATATATTATATATATTATATA TAAAATATAAATATATTATATATATTATATATAAATATAAATATATTATA TATATTATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA20905.hp1 HG02735.hp2 NA20905.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0102 a0004c0009t0001g0112 a0004c0009t0001g0102 a0004c0009t0001g0112	2	346	0.0058	561	c.-70 others(578): Show c.-70-5184_-70-5183insATATATAATATATATAATATATTTATAT TTATATATAATATATATAATATATTTATATTTTATATATAATATATATAA TATATTTATATTTATATATAATATATAAATATATTTATATTATATATAAT ATATAAATATATTTATATTATATATAATATATATAATATATTTATATTAT ATATAATATATATAATATATTTATATTTATATATAATATATATAATATAT TTATATTTATATATAATATATATAATATATTTATATTTATATATAATATA TATAATATATTTATATTTATATATAATATATATAATATATTTATATTTAT ATATAATATATATAATATATTTATATTTATATATAATATATATAATATAT TTATATTTATATATAATATATATAATATATTTATATTATATATAATATAT ATAATATATTTATATTATATATAATATATATAATATATTTATATTTATAT ATAATATATATAATATATTTATATTTATATATAATATATATAATATATTT ATATTTATATATAATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC6A18_chr5_1220381_1251189	1238245	G G	GTCAGGTT others(554): Show GTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGA CTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGG TCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAG TGAGCCTGGGGCCTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGAGGA CTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGAC ATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGAGCCTGGGGCCTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGA CTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGG TCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGT GAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGAC TCAGGAAAGACA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0326 a0001c0002t0001g0326	1	456	0.0022	561	c.732 others(576): Show c.732+199_732+200insGGCCTGGGGCCTCAGGAAAGAGGTCAGGTT TGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTG GAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAA AGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTT TGGAGTGAGCCTGGGGCCTCAGGAAAGACATCAGGTTTGGAGTGAGCCTG GAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGA AAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTT TGGAGTGAGCCTGGGGCCTCAGGAAAGACATCAGGTTTGGAGTGGGCCTG GAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAA AGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTT GGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGG AGGACTCAGGAAAGACATCAGGTTTGGAGTG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATATAAT others(554): Show CATATAATGATATACAATATATATCATTATATAACATAATGATATATATT ATATATCATTATATAACATATAATGATATATATTATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA TATCATTATATAACATATAATGATATATATATCATTATATAACATATAAT GATATATATATCATTATATAACATATAATGATATATAATATATATCATTA TATAACATAATGATATATAATATATATCATTATATAACATATAATGATAT ATAATATATATCATTATATAACATATAATGATATATAATATATATCATTA TATAACATATAATGATATATAATATATATCATTATATAACATATAATGAT ATATAATATATATCATTATATAACATATAATGATATATAATATATATCAT TATATAACATATAATGATATATAATATATATCATTATATAACATATAATG ATATATAATATATATCATTATATAACATATAATGATATATAATATATATC ATTATATAACAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0036 a0001c0005t0036	a0001c0005t0036g0052 a0001c0005t0036g0052	1	356	0.0028	561	c.-11 others(582): Show c.-112+29091_-112+29092insTAATGATATACAATATATATCATT ATATAACATAATGATATATATTATATATCATTATATAACATATAATGATA TATATTATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATATATCATTATATAACATATAATGATATAT ATATCATTATATAACATATAATGATATATATATCATTATATAACATATAA TGATATATAATATATATCATTATATAACATAATGATATATAATATATATC ATTATATAACATATAATGATATATAATATATATCATTATATAACATATAA TGATATATAATATATATCATTATATAACATATAATGATATATAATATATA TCATTATATAACATATAATGATATATAATATATATCATTATATAACATAT AATGATATATAATATATATCATTATATAACATATAATGATATATAATATA TATCATTATATAACATATAATGATATATAATATATATCATTATATAACAT ATAATGATATATAATATATATCATTATATAACATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPIRE2_chr16_89823475_89876319	89852330	C C	CTCTCACC others(554): Show CTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCCC CCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCT TCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCC CTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCTTCCGTCTTCTCTCTCACCCCCCGGATCCCA TGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCC CTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCT TCCGTCCTCCCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0005 a0010c0016t0001g0005	1	356	0.0028	561	c.645 others(578): Show c.645+1670_645+1671insTCTCACCCCCCGGATCCCATGGCCCGTC ATCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTC CCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCC CCCGGATCCCATGGCCCGTCTTCCGTCTTCTCTCTCACCCCCCGGATCCC ATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTC TTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCTTC TCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCC CCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCC ATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTC TTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTC CCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCC CCCGCATCCCATGGCCCGTCTTCCGTCCTCCCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14			chr16	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(554): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGACAGGGAGA GGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGA GGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAG GGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGGAGGGAG AGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGA TGGGGGAGGGGGAGGGAGAGGGATGGGGAGGGAGAGGGATGGGGGAGGGA GAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGA GAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGA GAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02615.hp2 others(2): Show HG02109.hp2 HG02280.hp1 HG02615.hp2 HG02970.hp2 HG03704.hp2	a0001 a0025 a0037 a0001 a0025 a0037	a0001c0018 a0001c0039 a0025c0074 others(1): Show a0001c0018 a0001c0039 a0025c0074 a0037c0100	a0001c0018t0007 a0001c0039t0001 a0025c0074t0001 others(1): Show a0001c0018t0007 a0001c0039t0001 a0025c0074t0001 a0037c0100t0001	a0001c0018t0007g0005 a0001c0039t0001g0038 a0001c0039t0001g0039 others(2): Show a0001c0018t0007g0005 a0001c0039t0001g0038 a0001c0039t0001g0039 a0025c0074t0001g0066 a0037c0100t0001g0078	5	256	0.0195	561	c.22 others(572): Show c.2268_*2269insGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAG GGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGG GGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGG AGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGG GAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGG CGGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGG GAGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGA GAGGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGG GGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGAGGGAGA GGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGG GGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAG AGAGAGAGGGAGAGAGAGGGAGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1886		chr12	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(554): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCCA CCCCCCCACCATCCCCCATCCTATCCACCCCCCCACCATCCCCCATCCTA TCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCAT CCTATCCACCCCCCCCACATCCATCCTATCCACCCACCAACCCACCATCT GCCATCCTATCCACCCACCCACCCACCATCCACCATCCTATCCACCCACC CATCCACCATCCACCATCCTATCCACCCACCCATCATCCACTATCCATCC ACCACCCCCACACCCATCCTATCCACCCACCCATCATCCACCATCCACTC ACCCTCCATCCACTATCCATCCACCCACCCGCCATCCACCCACCATCCCC CATCCACCTACTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTC TGTCCACCCACCCATCATATCCATCCACCCACCTACCCATCCATCCTATC CATCCACCCATC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03579.hp1 HG00642.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0024 a0001c0001t0009g0152 a0001c0001t0002g0024 a0001c0001t0009g0152	2	258	0.0078	561	c.113 others(580): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCC CCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCAC CCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTAT CCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCTA TCCACCCACCAACCCACCATCTGCCATCCTATCCACCCACCCACCCACCA TCCACCATCCTATCCACCCACCCATCCACCATCCACCATCCTATCCACCC ACCCATCATCCACTATCCATCCACCACCCCCACACCCATCCTATCCACCC ACCCATCATCCACCATCCACTCACCCTCCATCCACTATCCATCCACCCAC CCGCCATCCACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTAT ACATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCAC CCACCTACCCATCCATCCTATCCATCCACCCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF25_chr16_89868592_89916379	89908674	T T	TCCTCCCA others(554): Show TCCTCCCACCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCACCTCCCT CCTCCCAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACCTTCCAG CTCCCAGCTCCCGGCTCCCGGCTCCCACCTCCCTCCTCCCACCTCCCACC TCCCAGCTCCCGCCTCCCCTCCTCCCACCTCCCTCCTCCCAGTTCCTACC TCCTATCTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCT CCCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATC CTAGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCAGCTCC CACCTCCCTCCTTTCACCTCCCACCTGCCACCTCCCGCCTCCCACCTTCC AGCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCTCCTCCCAGTTCCCA CCTCCCAGCTCCCACCTCCCACCTCCCAACTCCCACCTCCCAACTCCCTC CTCCCACCTCCCAACTCTCTCCTCCCACCTTCCAGTTCCCACCTCCTTCC TCGCAGTTCCCA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	300	0.0033	561	c.179 others(580): Show c.1799+1359_1799+1360insCCTCCCAGTTCCCGCCTCCCACCTCT CACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCCCACCTCCC AGCTCCAACCTTCCAGCTCCCAGCTCCCGGCTCCCGGCTCCCACCTCCCT CCTCCCACCTCCCACCTCCCAGCTCCCGCCTCCCCTCCTCCCACCTCCCT CCTCCCAGTTCCTACCTCCTATCTCCCAGCTCCCAGCTGCCACCTCCCAG CTTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCAGC TCCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCCAGCTCCCTCCT CCCACCTCCCAGCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCACCTC CCGCCTCCCACCTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCC CTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCACCTCCCAACTCCC ACCTCCCAACTCCCTCCTCCCACCTCCCAACTCTCTCCTCCCACCTTCCA GTTCCCACCTCCTTCCTCGCAGTTCCCACCTCCCA	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TOLLIP_chr11_1269371_1314632	1294715	C C	CGTGGCTC others(554): Show CGTGGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGT GGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGC TCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCATGGCTCA GTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCGCGTGGCTCACAGTGT GTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTC TCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCC TTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTT CCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTCCC TGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTTCCTGC ATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTTCCTGCATT TCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTTCCTGCATTTCT ACGAAAGCCCGG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18968.hp1 NA18612.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	2	348	0.0058	561	c.183 others(576): Show c.183+929_183+930insCCGGGCTTTCGTAGAAATGCAGGAAAAGGA GACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGAAAAGGAGAC ACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGAAAAGGAGACACA CCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCG TGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCGTGA GCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCGTGAGCC ACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCGTGAGCCACG CGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGCGG CTTTCGTAGAAATGCAGGGAAAGGAGACACACTGAGCCATGCGGGCTTTC GTAGAAATGCAGGGAAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTA GAAATGCAGGGAAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAA ATGCAGGGAAAGGAGACACACCGTGAGCCAC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1294739	C C	CCCTGCAT others(554): Show CCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTCCC TGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTCCCTGC ATTTCTACGAAAGCCCGCATGGCTCAGTGTGTCTCCTTTCCCTGCATTTC TACGAAAGCCGCGTGGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACG AAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAA GCCCGCGTGGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCC CGCGTGGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGC GTGGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTG GCTCACGGTGTGTCTCCTTTTCCTGCATTTCTACGAAAGCCCGCGTGGCT CACGGTGTGTCTCCTTTTCCTGCATTTCTACGAAAGCCCGCGTGGCTCAC GGTGTGTCTCCTTTTCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGT GTGTCTCCTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	348	0.0029	561	c.183 others(576): Show c.183+905_183+906insAAAAGGAGACACACCGTGAGCCACGCGGGC TTTCGTAGAAATGCAGGAAAAGGAGACACACCGTGAGCCACGCGGGCTTT CGTAGAAATGCAGGAAAAGGAGACACACCGTGAGCCACGCGGGCTTTCGT AGAAATGCAGGAAAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTAGA AATGCAGGGAAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAAT GCAGGGAAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCA GGGAAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGG AAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAA GGAGACACACTGTGAGCCACGCGGCTTTCGTAGAAATGCAGGGAAAGGAG ACACACTGAGCCATGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACA CCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCG TGAGCCACGCGGGCTTTCGTAGAAATGCAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar

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Search Results (Total: 10000 hits)