Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(845): Show TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATATCCATATATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATATCCATATATATATATATCCATATATATATATATCCATATA TATATATATCCATATATATATATCCATATATATATATATATCCATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATCCATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATCCATATATATATATATCCATATATATATCCATATA TATATATATCCATATATATATATCCATATATATATATATCCATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATA TCC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0263 a0002c0002t0002g0263	1	284	0.0035	852	c.126 others(869): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATGGATATATATATATAT GGATATATATATATGGATATATATATATATGGATATATATATGGATATAT ATATATATGGATATATATATGGATATATATATATATGGATATATATATAT GGATATATATATATATGGATATATATATATGGATATATATATATGGATAT ATATATATATGGATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATGGATATATATATATATGGAT ATATATATATATGGATATATATATATGGATATATATATATGGATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATATGGATATATATATATGGATATATAT ATATGGATATATATATATATGGATATATATATGGATATATATATATATAT GGATATATATATATGGATATATATATATATGGATATATATATATATGGAT ATATATATATATGGATATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATGGATATATATATATATGGATATATATAT ATATGGATATATATATATATGGATATATATATATATGGATATATATATAT GGATATATATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LHFPL3_chr7_104323603_104913561	104824253	A A	ATATTATA others(845): Show ATATTATATATTATATATTATATATATAATATATATATTATATATTATAT ATATAATATATATATTATATATTATATATTATATATAATATATATATTAT ATATTATATATTATATATATAATATATATATTATATATTATATATTATAT ATATAATATATATATTATATATTATATATTATATATATAATATATATATT ATATATTATATATTATATATATTATATATATATTATATATTATATAATAT ATATATTATATATTATATATATTATATTATATATTATATATATAATATAT TATATTATATATATTATATAATATATTATATATTATATATATATTATATA ATATATTATATATAATTATATATATTTTATATATTATATATTATATATTA TATATTATATATTATATTATATATAATTATATATATTTTATATATTATAT ATTATATATTATATATTATATATTATATATATTATATATTATATATTATA TATTATATATATTATATATTAATATATTATATATACAATTATATATATTA TATATATTATATATTATATATATTATATTATATAATATATTATATATATA ATATATATTATATATTATATATTATATAATATATTATATATATAATATAT ATTATATATTATATATTATATAATATATTATATATATAATATATATTATA TATTATATATTATATAATATATTATATATATAATATATATTATATATTAT ATATTATATAATATATTATATATATAATATATATTATATAATATATATTA TATATATATTATATATATAATATATATTATTATATAATATATATTATATA AAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	86	0.0116	852	c.683 others(871): Show c.683-81934_683-81933insTATTATATATTATATATTATATATAT AATATATATATTATATATTATATATATAATATATATATTATATATTATAT ATTATATATAATATATATATTATATATTATATATTATATATATAATATAT ATATTATATATTATATATTATATATATAATATATATATTATATATTATAT ATTATATATATAATATATATATTATATATTATATATTATATATATTATAT ATATATTATATATTATATAATATATATATTATATATTATATATATTATAT TATATATTATATATATAATATATTATATTATATATATTATATAATATATT ATATATTATATATATATTATATAATATATTATATATAATTATATATATTT TATATATTATATATTATATATTATATATTATATATTATATTATATATAAT TATATATATTTTATATATTATATATTATATATTATATATTATATATTATA TATATTATATATTATATATTATATATTATATATATTATATATTAATATAT TATATATACAATTATATATATTATATATATTATATATTATATATATTATA TTATATAATATATTATATATATAATATATATTATATATTATATATTATAT AATATATTATATATATAATATATATTATATATTATATATTATATAATATA TTATATATATAATATATATTATATATTATATATTATATAATATATTATAT ATATAATATATATTATATATTATATATTATATAATATATTATATATATAA TATATATTATATAATATATATTATATATATATTATATATATAATATATAT TATTATATAATATATATTATATAAAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LINGO2_chr9_27932617_29218601	28189533	G G	GAGGAAGG others(845): Show GAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAA GGGAGGAAGGAAGGGATGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGG AAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAA GGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAA GGGAGGGAGGAAGGAAGGGAGGGAGGAAGGGAGGGAGGAAGGGAGGGAGG AAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGA GGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGG GAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGA GGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGG GAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGGA GGAAGAAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGG GAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAA GGAAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGG GAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGCAGGGAGGAAGGAAGGGA GGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAACGGAGGGAGGGAGG AAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGAA GGA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0056 a0001c0001t0009g0056	1	62	0.0161	852	c.-36 others(873): Show c.-36+105674_-36+105675insTCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTCCGTTCCTTC CTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTGCCT CCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCT TCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTCCCTTCCTTTCTTCCTCCCTCCCTTCCTTCCTTCCT TCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCT TCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCT CCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTCCCTCC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCT CCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCT TCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTC CTTCCTCCCTCCATCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCT TCCTTCCTTCCTCCCTCCCTTCCTTCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LORICRIN_chr1_153254687_153267124	153256766	T T	TATAGTCA others(845): Show TATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAA ACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTA TATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACA TATGTATATAAAACTAAATATAGTCATATATGTATATAAAACTATATATA GTTATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATACA GTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTA TATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATA AAACTATATACAGTCATATATGTATATAAAACTATACAGTCATATATGTA TATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATA TATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATAGTCA TATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATAGT TATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTA TATATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATA TATGTATGTAAAACTATAGTTATGTATGTAAAACTATAGTTATATATGTA TGTAAAACTATATACAGTTATGTATGTATGTAAAACTATACACAGTTATG TATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATACACA GTTATGTATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTA TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	1	422	0.0024	852	c.-29 others(863): Show c.-2991_-2990insATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAT ATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAA CTATATATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTAT ATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATATATGTAT ATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATAT ATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAG TCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTAT ACAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAA CTATATATAGTCATATATGTATATAAAACTATATATAGTCATATATGTAT ATAAAACTATAGTCATATATGTATATAAAACTATATAGTCATATATGTAT ATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATATATGTAT ATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTATGT AAAACTATAGTTATATATGTATGTAAAACTATAGTTATGTATGTAAAACT ATAGTTATATATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAA CTATACACAGTTATGTATGTATGTAAAACTATACACAGTTATGTATGTAT GTAAAACTATACACAGTTATGTATGTATGTAAAACTATACACAGTTATGT ATGTATGTAAAACTATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2920		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256766	T T	TATAGTCA others(845): Show TATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAA ACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTA TATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACA TATGTATATAAAACTAAATATAGTCATATATGTATATAAAACTATATATA GTTATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATACA GTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTA TATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATA AAACTATATACAGTCATATATGTATATAAAACTATACAGTCATATATGTA TATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATA TATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATAGTCA TATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATAGT TATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTA TATATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATA TATGTATGTAAAACTATAGTTATGTATGTAAAACTATAGTTATATATGTA TGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATACAGTTATG TATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATACACA GTTATGTATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTA TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	1	422	0.0024	852	c.-29 others(863): Show c.-2991_-2990insATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAT ATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAA CTATATATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTAT ATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATATATGTAT ATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATAT ATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAG TCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTAT ACAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAA CTATATATAGTCATATATGTATATAAAACTATATATAGTCATATATGTAT ATAAAACTATAGTCATATATGTATATAAAACTATATAGTCATATATGTAT ATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATATATGTAT ATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTATGT AAAACTATAGTTATATATGTATGTAAAACTATAGTTATGTATGTAAAACT ATAGTTATATATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAA CTATATACAGTTATGTATGTATGTAAAACTATACACAGTTATGTATGTAT GTAAAACTATACACAGTTATGTATGTATGTAAAACTATACACAGTTATGT ATGTATGTAAAACTATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2920		chr1	TogoVar
MAP3K15_chrX_19355059_19520508	19478126	G G	GGGGGAGA others(845): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGGAGAGGGGGG AGAGGGGGAGGGGGGAGGGGAGAGGGGGAGAGGGGGAGAGGGGGGAGAGA GGTGGGGGGGAGAGGGGGGAGAGAGGTGGGGGGAGAGGGGGGAGAGAGGT GGGGGAGAGGGGGGGAGAGAGGTGGGGGAGAGGGGGGAGAGAGGGGGGAG GGGGAGAGAGGGGGGAGGGGGGAGAGAGGGGAGAGAGGGGGGAGGGGGGA GAGAGGGGGGAGGGGGGAGAGAGGGGGGAGGGGGGAGAGAGGGGGGAGGG GGGAGAGAGGGGGGGAGGGGGGAGAGAGGGGGGGAGGGGGGAGAGAGGGG GGGAGGGGGGAGAGAGGGGGGAGGGGGGGGAGAGAGGGGGGAGGGAGGAG AGGGGGGAGGGGGGAGGGAGGAGAGGGGGGAGGGGGGAGGGAGGAGAGGG GGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGGG GGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGG AGGGGGGAGAGGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGG GGGGAGGGGGGGGGGGAGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGG AGAGGGGGGGAGAGGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGG AGAGGGGGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGAGGGGGGGAGAG GGGGAGGGGGGAGAGGGGGAGGGGGAGAGGGGGGGAGAGAGGGGGAGAGA GGGGGAGAGAGGGGGGAGGGGGAGAGAGGGGGGAGGGGGAGAGGGGGGAG AGA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0002 a0008c0020t0002	a0008c0020t0002g0028 a0008c0020t0002g0028	1	163	0.0061	852	c.525 others(869): Show c.525+8355_525+8356insTCTCTCCCCCCTCTCCCCCTCCCCCCTC TCTCCCCCTCCCCCCTCTCTCCCCCTCTCTCCCCCTCTCTCCCCCCCTCT CCCCCTCCCCCTCTCCCCCCTCCCCCTCTCCCCCCCTCCCCCTCTCCCCC CTCCCCCTCTCCCCCCTCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCC CCCCTCCCCCCCTCTCCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCT CTCCCCCCTCCCCCCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCC TCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCTCCCCCCTCT CCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCTCTC CCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCTCCCTCCCCCCTCCCCC CTCTCCTCCCTCCCCCCTCCCCCCTCTCCTCCCTCCCCCCTCTCTCCCCC CCCTCCCCCCTCTCTCCCCCCTCCCCCCCTCTCTCCCCCCTCCCCCCCTC TCTCCCCCCTCCCCCCCTCTCTCCCCCCTCCCCCCTCTCTCCCCCCTCCC CCCTCTCTCCCCCCTCCCCCCTCTCTCCCCCCTCCCCCCTCTCTCCCCTC TCTCCCCCCTCCCCCCTCTCTCCCCCTCCCCCCTCTCTCCCCCCTCTCCC CCACCTCTCTCCCCCCCTCTCCCCCACCTCTCTCCCCCCTCTCCCCCCAC CTCTCTCCCCCCTCTCCCCCCCACCTCTCTCCCCCCTCTCCCCCTCTCCC CCTCTCCCCTCCCCCCTCCCCCTCTCCCCCCTCTCCCCCCCTCTCCCCCC TCTCCCCCCTCTCCCCCTCTCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(845): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGGGG AAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGG TGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGA AAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGA AGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAGG ATGGAGGGGGAGGGGGAGGGAGGGGGGAGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGAGGGGGAGGGGAGGGGAG GGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGA GGGAGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGGGAGGGGAGGAGTGGGAGGGGGAGGGGGAGGGAGGGG AGGGGGAGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GAGGGGGAGGGGAGGGAAGAGAGGGAGGGGGAGAGGGAGGGAAGGGGGGA GAGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGA GTGGAGGGGGAGGGGGAGGGAGGAGGGATGGAGTGGAGGGGGAGGGGGAG GGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAAGGGAGGGGGAGGG GGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGG TGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0037 a0001c0001t0012g0037	1	272	0.0037	852	c.250 others(867): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCATCCCT CCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTC CCTCCCTTCCCTCCCCCTCCCTCTCCCCCCTTCCCTCCCTCTCCCCCTCC CTCTCTTCCCTCCCCTCCCCCTCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCCCTCCCCCTCCCACT CCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCTCCCTCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTCCCC CCTCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCTTCCCC CCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCC TTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCT TTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTT TTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCT CCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCC CCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NCAPG2_chr7_158626169_158709804	158667532	C C	CTACTGGG others(845): Show CTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTC CTTACCCACTACTGGGTCCCCTCCGCCCGCCTTACCCACTACTGGGTCCC TCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCCTCCCTTACCCAC TACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTC CGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTG GGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTAC CCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCC CTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGT CCCTCCGCCCGCCTTACCCACTACTGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTC CGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTAC TGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTT ACCCACTACTGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGC CCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGG TCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCC ACT	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	378	0.0027	852	c.148 others(871): Show c.1480-2783_1480-2782insAGTGGGTAAGGCGGGCGGAGGGACCC AGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG CGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGCGGGCGGAGGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGT AAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCA GTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGG AGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGGCGGAGGG ACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCG GGCGGAGGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTG GGTAAGGAGGGCGGAGGGACCCAGTA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667532	C C	CTACTGGG others(845): Show CTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTC CTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCT CCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTA CTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTT ACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCG CCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGG TCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCC ACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCC TCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTC CCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCC GCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACT GGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTA CCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGC CCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGG TCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCC ACT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	378	0.0027	852	c.148 others(871): Show c.1480-2783_1480-2782insAGTGGGTAAGGCGGGCGGAGGGACCC AGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAG GCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAG TGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGG CGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGG TAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACC CAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCG GAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAA GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTA GTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGG GACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGC GGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTG GGTAAGGAGGGCGGAGGGACCCAGTA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NOTCH1_chr9_136489433_136551048	136528393	G G	GGGGGGTG others(845): Show GGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACGGTGCGGGGG GGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGGG ATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGGATGGGC AGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGAC AGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGG ATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGATGGGCAGGG ACCGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTG GGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGCGA TGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCA AGGACAGTGGGGCGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAG TGCGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTG AGGGGGGGATGGGCAGGGACGGTGAGGGGGATGGGCAGGGACAGTGGGGG GTGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCA GGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACA GTGGGGGGTGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGG GGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATG GGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGACA GTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	324	0.0031	852	c.141 others(869): Show c.141-4415_141-4414insTACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCAT CCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCATCGCCC CCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTGT CCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTG CCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCC TCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCTC ACCGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCCCATCCCCCCCACTG TCCCTGCCCATCGCCCCACTGTCCTTGCCCATCCCCCTCACTGTCCCTGC CCATCCCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACC CCCCACTGTCCTTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCAC TGTCCCTGCCCATCCCCCCCACGGTCCCTGCCCATCCCCCACTGTCCCTG CCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACCCC CCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTC CCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCC CATCCCCCTCACTGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATC CCCCCCTCACCGTCCCTGCCCATCCCCCCCGCACCGTCCCTGCCCATCCC CCCCCACTGTCCCTGCCCACCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
PLEKHG4B_chr5_87168_194966	165461	C C	CTAATGCT others(845): Show CTAATGCTGTGACGGGGCGGGGCTCACACTAATGCTGTGACAGGGGTCGG AGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGACG GGGCGGAGCTCACACTAATGCTCTGATGGGGCGGAGCTCACACTAATGCT CTGACGGGGCGGAGCTCACACTAATGCTGTGACAGGGGGCGGGGCTCACA GTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAG CTCACACTAATGCTGTGACAGGGGGCGGGGCTCACAGTAATGCTCTGACG GGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCT CTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACT AATGCTCTGACGGGGCGGGGCTCACACTAACGCTCTGACGGGGCGGAGCT CACACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACGGG GCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCT GACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGGGCTCACACTAA CGCTCTGATGGGGCGGAGCTCACACACTAATGCTCTGACGGGGCGGAGCT CACACTAATGCTGTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGC GGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGA CGGGGCGGAGCTCACACTAATGCTCTGATGGGGCGGAGCTCACACACTAA TGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACGGGGCGGGGCTCA CAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0110 a0001c0007t0110	a0001c0007t0110g0151 a0001c0007t0110g0151	1	210	0.0048	852	c.347 others(871): Show c.3476+1920_3476+1921insGTGACGGGGCGGGGCTCACACTAATG CTGTGACAGGGGTCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCA CAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGATGGGGCGG AGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACA GGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATG CTCTGACGGGGCGGAGCTCACACTAATGCTGTGACAGGGGGCGGGGCTCA CAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGG GGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACG GGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAACGCT CTGACGGGGCGGAGCTCACACACTAATGCTCTGACGGGGCGGAGCTCACA CTAATGCTGTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAG CTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGG GCGGGGCTCACACTAACGCTCTGATGGGGCGGAGCTCACACACTAATGCT CTGACGGGGCGGAGCTCACACTAATGCTGTGACGGGGCGGGGCTCACAGT AATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCT CACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGATGGGGC GGAGCTCACACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGT GACGGGGCGGGGCTCACAGTAATGCT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PNPLA7_chr9_137454952_137555402	137502703	C C	CGGGGGGG others(845): Show CGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGG GGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGACGCGGGGG GACGGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGGAC GCGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGACGCG GGGGGACGGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGGGGGG GGACGCGGGGGGACGGGGGGGGACGGGGGGGACGCGGGGGACGCGGGGGG CGCGGGGGGCACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGC GGGGGACGCGGGGGGCGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGG GACGCGGGGGGACGCGGGGGGACGCGGGGGGACGCGGGGGACGGGGGGGA CGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGCGG GGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGAC GGGGGGGACGGGGGGGACGCGGGGGACGCGGGGGACGGGGGGGGCGGGGG GGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACG CGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGG GACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGGAC GGGGGGGACGGGGGGGACGCGGGGGGGACGGGGGGGACGGGGGGGACGCG GGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGA CGG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0144 a0001c0002t0001g0144	1	188	0.0053	852	c.147 others(869): Show c.1474-977_1474-976insCCGTCCCCCGCGTCCCCCCCGTCCCCCG CGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCC CCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGCGTCCCCCCCGTCCC CCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCG TCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCC CCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGCCCCCCCCGTCCCCCGCGT CCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCC CCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTC CCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCC GCGTCCCCCCGCGTCCCCCCGCGTCCCCCCGCGTCCCCCCCGTCCCCCCC GTCCCCCCCGCCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCC CCCCGTCCCCCCCGTGCCCCCCGCGCCCCCCGCGTCCCCCGCGTCCCCCC CGTCCCCCCCCGTCCCCCCGCGTCCCCCCCCGTCCCCCGCGTCCCCCCCG TCCCCCCCGTCCCCCCCCGTCCCCCCGCGTCCCCCCGCGTCCCCCCCGTC CCCCCCGTCCCCCCCGTCCCCCCGCGTCCCCCCCCGTCCCCCGCGTCCCC CCCGTCCCCCCCGTCCCCCCCCGTCCCCCCGCGTCCCCCCGCGTCCCCCC CGTCCCCCCCGTCCCCCCCGTCCCCCCGCGTCCCCCCCGTCCCCCCCGTC CCCCCCGTCCCCCGCGTCCCCCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGCATGAC others(845): Show AGCATGACTTGGGATGCTGGGGGGCAGGGGGCCTGTCCTCACCAGCCCTG TCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCT GAGCTTTTCTCTGAGGAGCATGACTTGGGATGCTGGGGGGCAGGGGGCCT GTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACC AGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGT CATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGG CCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCT GAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18959.hp2 NA19000.hp1 HG00408.hp1 NA18959.hp2 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0006 a0002c0004t0005 a0002c0004t0010 a0001c0001t0006 a0002c0004t0005 a0002c0004t0010	a0001c0001t0006g0181 a0002c0004t0005g0204 a0002c0004t0010g0123 a0001c0001t0006g0181 a0002c0004t0005g0204 a0002c0004t0010g0123	3	340	0.0088	852	c.227 others(869): Show c.227+3604_227+3605insCATGACTTGGGATGCTGGGGGGCAGGGG GCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTG ACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGCATGACTTGGGA TGCTGGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACC AGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAG GAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTC ATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGG CCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTG AGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTG TCATCTCTGAGTTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50397790	T T	TCTCTGAG others(845): Show TCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGC CTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAG TTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTC TGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCT GAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCC TCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTT TCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAG CCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAG GAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCCTGTCA TCC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0190 a0001c0003t0002g0190	1	340	0.0029	852	c.227 others(869): Show c.227+3662_227+3663insTTTTTCTCTGAGGAGTGTGACTTGGGAT GGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCT CTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCC CTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGG GGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAG TGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATC TCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTG TCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTG GGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTT TCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCA GCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGG CAGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGT CATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGG CCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCT CACCAGCCCTGTCATCCCTCTGAG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50397832	A A	AGGGGGGG others(845): Show AGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAG GAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCCTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCAC CAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGG GGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTC TGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGG GGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAG TGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCT CTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGT CCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACC AGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0219 a0001c0002t0014g0219	1	340	0.0029	852	c.227 others(869): Show c.227+3702_227+3703insGGCCTGTCCTCACCAGCCTTGTCATCTC TGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTC CTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGC CTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCG GGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAG TGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATC CCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGA GCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCT GTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGG GGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCGGGGGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RIMBP2_chr12_130391133_130721299	130646099	C C	CTCCCTCA others(845): Show CTCCCTCACCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCTCCACCT CCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACCTCC CTCACCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTCCCT CTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCA CCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCACC ACCTCCCTCACCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCACCAC CTCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTGCCTCTCCACCT CCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTGC CTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCT CACCACCTGCCTCGCCACCTCCCTCGCCACCTCCCTCTCCACCTCCCTCA CCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCTCC ACCTCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCAC CTCCCTCACCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCT CCCTCACCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCTCCACCTCC CTCTCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCT CTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCT CCACCTCCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCTCC ACT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0168 a0001c0002t0001g0168	1	180	0.0056	852	c.-35 others(873): Show c.-351-17644_-351-17643insAGTGGAGAGGGAGGTGGAGAGGGA AGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGG TGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTG GTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGT GAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGA GGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGG GAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGTGAGGGA GGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGG TGGCGAGGGAGGTGGCGAGGCAGGTGGTGAGGGAGGTGGTGAGGGAGGTG GTGAGGGAGGTGGTGAGGGAGGTGGTGAGGCAGGTGGTGAGGGAGGTGGT GAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGCAGGTGGTGA GGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGAGAGG GAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGA GGTGGAGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGG TGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTG GAGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGA GAGGCAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGAGA GGGAGGTGGAGAGGGAAGTGGTGAGGGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(845): Show CATATTTTATATTATAATATATAATATATTATATATTATAATATATAATA TATATTATATATTATAATATATAATATATTATATATTATAATATATAATA TATTATATTTTATAATATATAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATATA TTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATATA TATTATATATTATAATATATAATATATATTATATATTATAATATATAATA TATATTACATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATTATATTTTATAATATATAT AAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTATAA TATATAATATATTATATTTTATAATATATAATATATTATATTTTATAATA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATCTTATATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTTTATAATATATAATATATTATATTTTATATTATATAAGATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATAATATATAATATATTATATTTTATAATATATAATATATTATATTT TATATATATTATAAAATATAATATATTATATTTTATAATATATAATATAT CTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01169.hp2 others(1): Show HG01069.hp2 HG01071.hp2 HG01169.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0001 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0117 a0001c0001t0005g0137 a0001c0001t0005g0138 others(1): Show a0001c0001t0001g0117 a0001c0001t0005g0137 a0001c0001t0005g0138 a0001c0001t0007g0136	4	340	0.0118	852	c.17 others(871): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAAGATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT TTTATAAAATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATATTATAATATGTAATATATATTATATATTATAATATATAATAT ATATTATATATTATAATATGTAATATATATTATATATTATAATATATAAT ATATATTATATATTATAATATATAATATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAATATATAAT ATATTATATATTATAATATATAATATATATTATATATTATAATATATAAT ATATTATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SRXN1_chr20_641615_658200	642100	T T	TGGGGGGG others(845): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGG GGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCC CAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCC CAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGC CTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCC CGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	422	0.0024	852	c.66 others(863): Show c.6613_*6614insCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCC AGGCAACTCCACCCCCGCGGGGCCCCCCCCCAGGCAACTCCACCCCCGCT GGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCC CCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCCCCCAGGCAACTCCACCCCCGC TGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4514		chr20	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(845): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGAGGGAGGG AGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGAG GAAAGGAAGGAGGGAGGGAGGGAGGAAAGAAGGAGGGAGGAAAGGAAGGA GGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGG AGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAA AGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAGGAGG GAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAG GGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGA AAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAG GGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGG AGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGG AAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAG AAAGGAAGGAGGGAGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAA GGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGG GGA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0025 a0001c0001t0044g0025	1	322	0.0031	852	c.597 others(869): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCTCCCTCCTTCCTTTCTCCCTCCTTCCTTTCCTCCCTCCT TCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCC TCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCC CTCTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCT CCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCTCCCTCCC TCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCC CTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTTCC TCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTCCTTTCCTCCCTCC TCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(845): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCA GGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCC CCCCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCC CCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTC CGGGAGGGAGGTGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCTG GGAGGGAGGTTTGGGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG04184.hp1 NA18943.hp2 others(1): Show HG03669.hp1 HG04184.hp1 NA18943.hp2 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	4	434	0.0092	852	c.-27 others(863): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGACG GGGCGGCTGGTCGGGCGGGGGGCTGACCCCCAAACCTCCCTCCCAGACGG GGCGGCTGGCCGGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGG CTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGC AGAGGCGCCCCTCACCTCCTGGATGGGGCGGCTGGCCGGGCAGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGAGGTG ACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTGCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCTCCCCGCCTCCCTCCCG GACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCACACCTCCCTCCCGG ACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(845): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCA GGAGGTGAGGGGCGCCTCTGCCCAGCCACCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCC CCCCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCC CCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTC CGGGAGGGAGGTGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCTG GGAGGGAGGTTTGGGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	434	0.0023	852	c.-27 others(863): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGACG GGGCGGCTGGTCGGGCGGGGGGCTGACCCCCAAACCTCCCTCCCAGACGG GGCGGCTGGCCGGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGG CTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCTGGGC AGAGGCGCCCCTCACCTCCTGGATGGGGCGGCTGGCCGGGCAGGGGGCTG ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGAGGT GACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTGCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCTCCCCGCCTCCCTCCCG GACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCACACCTCCCTCCCGG ACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TMEM120B_chr12_121707752_121787068	121747959	A A	ACTGGGGT others(845): Show ACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGATAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0095 a0002c0002t0095	a0002c0002t0095g0245 a0002c0002t0095g0245	1	314	0.0032	852	c.189 others(867): Show c.189-354_189-353insCGGGAGTCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGG GTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGATAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TP53AIP1_chr11_128930370_128947871	128930734	G G	GGGAGGCC others(845): Show GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAG GCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCAGGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGG GAGGCTGGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGG CTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCAGGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTAGGGA GGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGAC CAAGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGG GGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAG GCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGG GTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAG GGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGC TGGGGTTAGGGAGGCCAGGGGGTTAGGGAGACCAAGGGTTAGGGAGGCTG GGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGT TAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	466	0.0022	852	c.48 others(863): Show c.4856_*4857insTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTA ACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCTTGGTCTCCCTAACCC CCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGC CTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCC TAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACC CCAGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCC TCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCTT AACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACC CCAGCCTCCCTAACCCTTGGTCTCCCTAACCCCCTGGCCTCCCTAACCCC AGCCTCCCTAACCCCAGCCTCCCTACCCCAGCCTCCCTAACCCCTGGCCT CCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTA ACCCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACC CCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGC CTCCCTAACCCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCC CTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAA CCCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4635		chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204100	T T	TATACTAT others(845): Show TATACTATTATATCATCATATGATGATATACTATTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATACTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATATACTATATCATCATATGATGATATAGTATATCATC ATATGATATGATACTATATCATCATATGATGATATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATATACTATATCATCATAT GATATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0028 a0001c0001t0031g0028	1	174	0.0058	852	c.41- others(869): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATATACTATATCATCATAT GATGATATAGTATATCATCATATGATATGATACTATATCATCATATGATG ATATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATCATATG ATATACTATATCATCATATGATATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTBK2_chr15_42733730_42925778	42837657	C C	CAAAAAAA others(845): Show CAAAAAAAAAAAAAAAAAAAAAAAAAGGTTCAGGGATAGCTGCTTAAGGA AATAAAACTAGGCTGGCTCAAGAGTTAGTGAATCACATGACTCAGAAAGA CCTTAAGATTATAGTCTACAGACGTTAGTATCTTTAAATCTAAATGAAAT CTGAAGGATGGCTGAGGGAAACAAGAAAAGCCTCCTGATGAGAAAAGGAA GCATTTAGGCCAGGATCTATGTCTCTAGAATCACTGTTATTTAGATAACT TGAAAGAAAATAAAGAAACCTGCTGGGCGCGGTGGCTCACACCTGTAATC CCAGCACTTTGGGAGGCTGAGGCAGGCGGATCGCCTGAGGTTAGGAGTTT AATGCCAGCCTGGCCAGCATGGTGAAACCCTGTCTCTACTAAAAATACAA AAAGTAGCGAGGCGTGGTGGCGACTACCTGTAATCCCAGCTATTCCAGAA GCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGC TGAGATCACGCCACTGCACTCCAGCCTGGGTGACAAAGCGAGACTCCATC TCAAAAAAAAAAAAAAAAAAGGCCAGGCATGGTGGCTTACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGTAGGTGGATCACTTGAGGTCAGGAGTTC GAGACCAGCCTGGGCAAAATGGTGAAACCCAGTCTCTAATTAAAAACATA AAAATTAGCCAAGTGTGGTGGCGTGTGCCTGTAATCCCAACTACTTGAGA GACTGAGGCACAATAATCACTTGAACCCAGGAGGTGGAAGTTGCAGTGAG CCGAGATTGTGCCACTGCACTCCTGCCCGGTGACAGAGTGAGACTCTGTC TCA	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0004 a0003c0003t0009g0004	1	248	0.0040	852	c.291 others(869): Show c.291+2702_291+2703insTGAGACAGAGTCTCACTCTGTCACCGGG CAGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACTTCCACCTCCTGGG TTCAAGTGATTATTGTGCCTCAGTCTCTCAAGTAGTTGGGATTACAGGCA CACGCCACCACACTTGGCTAATTTTTATGTTTTTAATTAGAGACTGGGTT TCACCATTTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCAC CTACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCATGCC TGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTTTGTCACCCAG GCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCCGG GTTCAAGCGATTCTCCTGCCTCAGCTTCTGGAATAGCTGGGATTACAGGT AGTCGCCACCACGCCTCGCTACTTTTTGTATTTTTAGTAGAGACAGGGTT TCACCATGCTGGCCAGGCTGGCATTAAACTCCTAACCTCAGGCGATCCGC CTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCC CAGCAGGTTTCTTTATTTTCTTTCAAGTTATCTAAATAACAGTGATTCTA GAGACATAGATCCTGGCCTAAATGCTTCCTTTTCTCATCAGGAGGCTTTT CTTGTTTCCCTCAGCCATCCTTCAGATTTCATTTAGATTTAAAGATACTA ACGTCTGTAGACTATAATCTTAAGGTCTTTCTGAGTCATGTGATTCACTA ACTCTTGAGCCAGCCTAGTTTTATTTCCTTAAGCAGCTATCCCTGAACCT TTTTTTTTTTTTTTTTTTTTTTTT	TTBK2	ENSG00000128881.18	transcript	ENST00000267890.11	protein_coding	4/14			chr15	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(845): Show TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATAATTATATATAATAATATATATTATATTATTATAT ATTATTATATATAATAATATAATATATATTATTATATATAATTATATATA ATAATATATATTATATTATTATATATAATTATATATAATAATATAATATA TATTATTATATATTATTATATATAATAATATAATATATATTATTATATAT AATTATATATAATAATATAATATATATTATTATATATAATTATATATAAT AATATAATATATATTATTATATATAATTATATATAATAATATAATATATA TTATTATATATAATTATATATAATAATATAATATATATTATTATATATAA TAATATATATATATATTATTATATATAATTATATATAATAATATAATATA TATTATTATATATAATTATATATAATAATATAAATATATTATTATATATT ATTATATATAATAATATAATATATATTATATATTATTATATATAATAATA TAATATATATTATATATTATTATATATAATAATATAATATATATTATTAT ATATTATTATATATAATAATATAATATATATTATTATATATAATAATATA ATATATATTATTATATATTATTATATATAATAATATAATATATATTATTA TATATAATAATATAATATATATTATTATATATTATTATATATAATAATAT AATATATATTATTATATATAATAATATAATATATATTATTATATATTATT ATATATAATAATATAATATATATTATTATATATTATTATATATAATAATA TAA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	238	0.0042	852	c.392 others(869): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATATTATATTATTATATATAATAATATATA ATAATATATATTATATTATTATATATAATAATATATATTATATTATTATA TATAATAATATATAATAATATATATTATATTATTATATATAATAATATAT ATTATATTATTATATATAATAATATATAATAATATATATTATATTATTAT ATATAATAATATATAATATATATTATATTATTATATATAATAATATATAA TATATATTATATTATTATATATAATAATATATAATAATATATTTATATTA TTATATATAATTATATATAATAATATATATTATATTATTATATATAATTA TATATAATAATATATATATATATTATTATATATAATAATATATATTATAT TATTATATATAATTATATATAATAATATATATTATATTATTATATATAAT TATATATAATAATATATATTATATTATTATATATAATTATATATAATAAT ATATATTATATTATTATATATAATTATATATAATAATATATATTATATTA TTATATATAATAATATATAATAATATATATTATATTATTATATATAATTA TATATAATAATATAATATATATTATTATATATAATTATATATAATAATAT ATATTATATTATTATATATAATAATATATAATAATATAATATATATTATT ATATATAATTATATATAATAATATATATTATATTATTATATATAATAATA TATAATAATATATATTATATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
VCX2_chrX_8164944_8176267	8169628	C C	CCCTCCCT others(845): Show CCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCTCTTC CTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTTCCTCCCTCCCTCCC CACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCC ACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCT CCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACA CCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTC CCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTT CCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCTC TTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTTCCTCCCTCCCT CCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCT TCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACC TCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCC CTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACA CACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCC TCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCT CTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0003 a0002c0001t0001g0003	1	115	0.0087	852	c.40 others(861): Show c.403_*404insAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGT GTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		315		chrX	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(845): Show TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTCCCCTTCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCTT CCCCCTTCCCCCTTCCCCCCTTCACCCTTCCCCTTCCCCCCTTTCCCCAC CCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCTTCC CCTTCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCT TTCCTCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCC CCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTC CCCCTTCTCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCC CCTTCCCCCCTTTCCCCCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCC CCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTTCCCCCCCCTTCCCCCCTTTCCCCCTTCTCCC CTTCCCCCCCTTTCACCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCC CCC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	246	0.0041	852	c.-10 others(869): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTTTCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCC CCCCTTTCCCCCCTTCCCCTTCCCCCTTCCCCCTTCCCCCCTTCACCCTT CCCCTTCCCCCCTTTCCCCACCCCTTCCCCCTTCCCCCTTCCCCCCTTCC CCCTTCCCCCTTCCCCCTTCCCCTTCCCCCTTTCCCCCTTCCCCCCTTTC CCCCTTCCCCCCTTCCCCCCTTTCCTCCCCTTCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCC CCTTCCCCCTTCCCCCCTTTCCCCCTTCTCCCCTTCCCCCCTTTCCCCCT TCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCC TTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTT TCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTTCCCCCCCCTT CCCCCCTTTCCCCCTTCTCCCCTTCCCCCCCTTTCACCCCCTTCCCCCCT TTCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(846): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTAAAAAAA AAAAAAAAAAATACATATATATATATATATATATATATTTAAAATTCCTT GTAAAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTG GGAGGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCT GGCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0264 a0001c0001t0019g0264	1	336	0.0030	853	c.94+ others(868): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATGTATTTTTTTTTTTTTTTTTTAATATATATTCTTTTTTTT TAAACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCTC GGCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGAG GGAGAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATTTTT TTTTTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGCCC AGGCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTC CCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAATA TATTTTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTTGG TTGACTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTGTT TCCACATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCTTT TTCTTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTC TCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTTAG TAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(846): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTAG TCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCCA GGAGGCTGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTG GTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTAAAAAAAA AAAAAAAAATACATATATATATATATATATATATATATTTAAAATTCCTT GTAAAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTG GGAGGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCT GGCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01952.hp1 HG01975.hp1 others(3): Show HG00738.hp1 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02148.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0035 a0001c0001t0003g0236 a0001c0001t0003g0237 others(2): Show a0001c0001t0003g0035 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0010g0260	6	336	0.0179	853	c.94+ others(868): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATATGTATTTTTTTTTTTTTTTTTAATATATATTCTTTTTTT TTAAACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCT TGGCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGA GGGAGAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATTTT TTTTTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGCCC AGGCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTC CCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAATA TATTTTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTTGG TTGACTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTGTT TCCACATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCTTT TTCTTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTC TCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTTAG TAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267564	G G	GAAACCCC others(846): Show GAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATTAGCCGGGCG TGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGATCGTGCCAC TGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAAAATAAAAAA GAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTGGCTGGTGCC TCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCTATAAAATAA CGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAATGATTGGTTT GCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTCACACCTGTA ATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTGAGCTCAAGA GTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACTAAAATA CAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTAGTCCCACCTA GTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCCAGGAGGCTGA GGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTGGTAACAGAG TGAGACTCCGTTTAAAAAAAAAGAATATATATTAAAAAAAAAAAAAAAAA TACATATATATATATATATATATATATATTTAAAATTCCTTGTAAAAAGT GGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCAA AGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAT GGTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0230 a0001c0001t0007g0230	1	336	0.0030	853	c.94+ others(868): Show c.94+2216_94+2217insAACCATGTTGGCCAGGCTGGTCTTGAACTC CTGACCTCAAGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTAC AGGTGTGGGCCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATA TATATATATATATATATATATGTATTTTTTTTTTTTTTTTTAATATATAT TCTTTTTTTTTAAACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTG GCACCATCTCGGCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCT GCCTCAGGAGGGAGAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTG GCTAATTTTTTTTTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACC ATGTTGCCCAGGCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGC CTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGC CGATAAATATATTTTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCG GTAATTTGGTTGACTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTT ATTTTTGTTTCCACATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAG GGTTTCTTTTTCTTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAG CTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGT ATTTTTTAGTAGAGACGGGGTTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(846): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC AGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCAC CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	391	0.0026	853	c.36 others(864): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCC TCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCAGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
B4GALNT4_chr11_364499_387117	375140	A A	AAGGGAGG others(846): Show AAGGGAGGGAGGAGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAG GTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAG GAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGA GGGAGGTGGAAGGGAGGGAGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGA AGGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0058 a0002c0007t0001g0058	1	184	0.0054	853	c.784 others(868): Show c.784-306_784-305insGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAG GGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAA GGGAGGGAGGTGGAAGGGAGGGAGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGG AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGG AGGAAGGGAGGGAGGGAGGAGGA	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAMK1D_chr10_12344547_12840545	12776122	A A	AGACTGTG others(846): Show AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGAC TGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGC ATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACT GTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCA TTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTG TGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCAT TGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGT GAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATT GATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTG AGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTG ATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGA GAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGA TCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAG AAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGAT CAGC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0109 a0001c0001t0106g0109	1	214	0.0047	853	c.565 others(870): Show c.565+6323_565+6324insGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCT CAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTG AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGA CTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGAC TGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGC ATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACT GTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCA TTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTG TGAGAAGGCTCAGGCATTGATCAGC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10			chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(846): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCT CTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTC CTCCTCTCCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTT CCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCC CCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTC CTCC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0208 a0001c0002t0006g0208	1	270	0.0037	853	c.162 others(874): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTC CACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTC CCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCC CTCTCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCT CCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTC CTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCT CTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
DGCR8_chr22_20075241_20116872	20075545	G G	GAGGAGAT others(846): Show GAGGAGATTGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTA AAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGAGCT TGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACG AGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAA AAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTC ATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAAT AAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCA AGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGC GCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCC GGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTT TCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGC TCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGA GGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	419	0.0024	853	c.-51 others(864): Show c.-5116_-5115insAGGAGATTGAGACCAGCCTGGCTAACACGGTGAA ACCCTGTCTCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGC GCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGC CTGGGCGACAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAA TAATAATAATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTG TAAGAAAACTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCAT CATAGCACTACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCC ATCCAATCTCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGG CTGGAGTGTAGTGGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCACTACCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCAGATTTCTTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTG GCCGGGCACCGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCATGAGGTC	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4695		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(846): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGAGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGCGGCGCTGTCTT GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATT TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGA TGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	419	0.0024	853	c.-51 others(864): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGAGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTG TAGCGGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTAC CACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGA TTTCTTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCA CCGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGG ATCATGAGGTCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(846): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGAGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTT GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATT TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGA TGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01884.hp1 HG01952.hp1 others(29): Show HG00609.hp1 HG01884.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02523.hp1 HG02559.hp2 HG02622.hp1 HG02723.hp1 HG02735.hp2 HG02818.hp2 HG03453.hp1 HG03540.hp1 HG03704.hp2 NA18954.hp1 NA18965.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA19004.hp2 NA19010.hp2 NA19070.hp2 NA19077.hp2 NA20300.hp1 NA21309.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0016 a0001c0001t0048 a0001c0001t0049 a0001c0001t0053 a0007c0010t0008	a0001c0001t0002g0032 a0001c0001t0005g0004 a0001c0001t0005g0011 others(19): Show a0001c0001t0002g0032 a0001c0001t0005g0004 a0001c0001t0005g0011 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0005g0077 a0001c0001t0005g0082 a0001c0001t0005g0083 a0001c0001t0005g0084 a0001c0001t0006g0032 a0001c0001t0008g0004 a0001c0001t0008g0011 a0001c0001t0008g0037 a0001c0001t0008g0078 a0001c0001t0008g0081 a0001c0001t0008g0086 a0001c0001t0016g0011 a0001c0001t0016g0085 a0001c0001t0048g0076 a0001c0001t0049g0080 a0001c0001t0053g0037 a0007c0010t0008g0004	32	419	0.0764	853	c.-51 others(864): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGAGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTG TAGTGGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTAC CACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGA TTTCTTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCA CCGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGG ATCATGAGGTCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(846): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGAGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACGTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTT GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATT TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGA TGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	419	0.0024	853	c.-51 others(864): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGAGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACGTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTG TAGTGGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTAC CACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGA TTTCTTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCA CCGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGG ATCATGAGGTCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DPEP1_chr16_89608642_89643433	89634658	C C	CCCTTCCT others(846): Show CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCCTTCCTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	250	0.0040	853	c.105 others(870): Show c.105-1248_105-1247insTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTC TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTT CCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(846): Show TAATATATATATGGAATATATATATACGGAATATATATATAATATATATA TGGAATATATATATACGGAATATATATATAATATATATATGGAATATATA TATACGGAATATATATATAATATATATGGAATATATATAAACGGAATATA TATATAATATATATACGGAATATATATATACGGAATATATATAATATATA TACGGAATATATATATAATATATATATAATATATATATGGAATATATATA TAATATATAAATGGAATATATATACGGAATATATATATAATATATAAATG GAATATATATATACGGAATATATATATAATATATATATGGAATATATATA TACGGAATATATATATAATATATATATGGAATATATATATACGGAATATA TATATAATATATATATGGAATATATATATACGGAATATATATATAATATA TATATGGAATATATATATACGGAATATATATAATATATATATGGAATATA TATATACGGAATATATATATAATATATATATGGAATATATATATACGGAA TATATATATAATATATATATGGAATATATATACGGAATATATATATATGG AATATATATATATGGAATGTGTATATATGGAATATATATATATGGAATGT GTATATATGGAATATATATATGGAATATATATATGGAATATATATATGGA ATATATATATATGGAATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATGGAATATATATATATGGAATATATATATGGAA TATATATATATGGAATATATATATGGAATATATATATATGGAATATATAT ATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0139 a0001c0001t0012g0139	1	323	0.0031	853	c.-21 others(864): Show c.-2147_-2146insAATATATATATGGAATATATATATACGGAATATA TATATAATATATATATGGAATATATATATACGGAATATATATATAATATA TATATGGAATATATATATACGGAATATATATATAATATATATGGAATATA TATAAACGGAATATATATATAATATATATACGGAATATATATATACGGAA TATATATAATATATATACGGAATATATATATAATATATATATAATATATA TATGGAATATATATATAATATATAAATGGAATATATATACGGAATATATA TATAATATATAAATGGAATATATATATACGGAATATATATATAATATATA TATGGAATATATATATACGGAATATATATATAATATATATATGGAATATA TATATACGGAATATATATATAATATATATATGGAATATATATATACGGAA TATATATATAATATATATATGGAATATATATATACGGAATATATATAATA TATATATGGAATATATATATACGGAATATATATATAATATATATATGGAA TATATATATACGGAATATATATATAATATATATATGGAATATATATACGG AATATATATATATGGAATATATATATATGGAATGTGTATATATGGAATAT ATATATATGGAATGTGTATATATGGAATATATATATGGAATATATATATG GAATATATATATGGAATATATATATATGGAATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATGGAATATATATATATGG AATATATATATGGAATATATATATATGGAATATATATATGGAATATATAT ATATGGAATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323151	T T	TATATATA others(846): Show TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATGGAATATATATATATGGAATATATATATATGGAATATATATATA TGGAATATATATATATGGAATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATATATGGAATATATATATGGAATATATATAT ATGGAATATATATATGGAATATATATATATGGAATATATATATGGAATAT ATATATATGGAATATATATATGGAATATATATATATGGAATATATATATA TGGAATATATATATATGGAATATATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATGGAATATATATATGGAATATATATGT GGAATATATATATATGGAATATATATATATGGAATATATATATATGGAAT ATATATATATGGAATATATATATGGAATATATATATGGAATATATATATG GAATGTATATATATGGAATATATATATGGAATGTATATATATGGAATGTA TATATATGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATAT GTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGA ATATATATGTGGAATGTATATGTGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATGGAATATATATATA TGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	323	0.0031	853	c.-19 others(864): Show c.-1905_-1904insATATATATATGGAATATATATATATGGAATATAT ATATATGGAATATATATATATGGAATATATATATATGGAATATATATATA TGGAATATATATATATGGAATATATATATATGGAATATATATATGGAATA TATATATATGGAATATATATATATGGAATATATATATATGGAATATATAT ATGGAATATATATATATGGAATATATATATGGAATATATATATATGGAAT ATATATATGGAATATATATATATGGAATATATATATGGAATATATATATA TGGAATATATATATATGGAATATATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATGTGGAATATATATATATGGAATATATATATATGGAAT ATATATATATGGAATATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATGGAATGTATATATATGGAATATATATATGGAATGTA TATATATGGAATGTATATATATGGAATGTATATATGTGGAATGTATATAT GTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGA ATGTATATATGTGGAATATATATGTGGAATGTATATGTGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TGGAATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1818		chr21	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAGA others(846): Show TAAGAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0152 a0002c0003t0001g0152	1	308	0.0033	853	c.127 others(872): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
JUND_chr19_18274694_18286622	18284529	T T	TAATAATA others(846): Show TAATAATAATAATAATAATAATAATAATAATAATAATAAAGACCTGGCCG TGCGCGATGGCTCACTCCTATAATCCCAGCACTTTGGGAATCCAAAGCGG GTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAA CCCTGTCTCTACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGC CTGTAGTCCCTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCC GGGAGGCAGAGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAGCCT GGGCAAAAGAGTAAGAATCCGTCTCAATAATAATAATAATAATAATAATG ATAGGCCGGGCGCGGTGGCTCTCGCCTGTAATCCCAGCCCTTTGGGAGGC TGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAG CATGGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTGTGG TGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATC GCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCAGAGG TTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAATA CAAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGTGA GCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCTGC CTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 NA19060.hp2 HG02074.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	408	0.0049	853	c.-30 others(864): Show c.-3046_-3045insTTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGC GCGATCTTGGCTCACCGCAACCTCTGGCGCGATCTTGGCTCACTGCAACC TCTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCT GGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGT GGAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCT CAGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGAG AGCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTGAGAC GGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTTGGCT CACTGTAGCCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCCTC CCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATTTTTG AATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGAT CTCCTGACCTCATGATCCACCCGCTTTGGATTCCCAAAGTGCTGGGATTA TAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTATTAT TATTATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2908		chr19	TogoVar
KANK1_chr9_499695_751103	514241	T T	TCCCTCCC others(846): Show TCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCC TTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTT CCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCTCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTCTCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTC TCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCC TCCGTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTC CCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCTC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTTCC TCCCTCTCTCCCTCCCTCTCTCCCTCCTTCTCTCCCTCCCTCCCTCCCTT CCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCT TCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTC CCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCTCTTCCTCCCTGTCTCCC TCCTTCTCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTC CCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTTCCTCCC TCCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0002 a0007c0014t0002	a0007c0014t0002g0085 a0007c0014t0002g0085	1	254	0.0039	853	c.-84 others(870): Show c.-84+9487_-84+9488insCCCTCCCTCCCTCCCTCCCTCTCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCT CCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCC CTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCC CTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCTCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCT CTCCCTCCCTCCCTCCCTCCCTCCGTTCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCTCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTTCCT CTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCC CTCCCTCCCTCCCTCTCTTCCTCCCTCTCTCCCTCCCTCTCTCCCTCCTT CTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTCTCTCCCTCCTTCTCTCCCTCCCTCCCTCCCTTCCTTCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCC CTCTCTTCCTCCCTGTCTCCCTCCTTCTCTCCCTCCCTCCCTCCCTTCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTC CTCTCTCCCTCCCTTCCTCCCTCCC	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11			chr9	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(846): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTC CCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGC CGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCA CAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCC CCCACAGCCACCCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCA CCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCAC AGCT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	312	0.0032	853	c.-41 others(868): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCT CCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACC CCCCACAGCCACCCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCC ACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAG CCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCA CAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(846): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTC CCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAG CCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCA CAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCC ACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCC CCCACAGCCGCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACC CCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCA CCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCAC AGCT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0042 a0004c0008t0001g0042	1	312	0.0032	853	c.-41 others(868): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCT CCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCACA GCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCC ACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCC CACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCC CCCCACAGCCGCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCAC CCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCC ACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAG CCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCA CAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(846): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCT CCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACC CCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCA CCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCAC AGCT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	312	0.0032	853	c.-41 others(868): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGC CGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCA CAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCC CCCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACC TCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGC CACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACA GCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCA CAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCC CACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCAC CCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCC ACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAG CCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCA CAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LHPP_chr10_124456823_124619141	124507525	G G	GTGGAGGG others(846): Show GTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG TGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGG GCGGGTAGACAGGATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGGG CGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTTGGGGGGTAGGGAAGATTTCAGGTTGGGGGGT AGGGAAGATTTCAAGTGGGGTGGGTAAGGAGGATTTCAGGTTGGGGGGTA GGGAAGATTTCAAGTGGGGTGGGTAAGGAGGATTTCAGGTTGGGGGGGGT AGGGAGGATTTCAGGTGGGGGGGTAGGCAGGATTTCAGGTCGGGGGGGTA GACAGGATTTCAGGTGGGGAGTAGGCAGGATTTCAGGTCGGGGGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGCGGGTAGACAG GATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGGGCGGGTAGACAGG ATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATT TCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGGTAGGGAGGATT TCAGGTGGGCGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTC AGGT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	260	0.0039	853	c.624 others(870): Show c.624+9397_624+9398insTGGAGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGGGCGGGTAGACAGGATTTCAGGTGGGGGGG GTAGGGAGGATTTCAGGTGGGCGGGTAGACAGGATTTCAGGTGGGGGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTTGGGGGGTAGG GAAGATTTCAGGTTGGGGGGTAGGGAAGATTTCAAGTGGGGTGGGTAAGG AGGATTTCAGGTTGGGGGGTAGGGAAGATTTCAAGTGGGGTGGGTAAGGA GGATTTCAGGTTGGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGCA GGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGAGTAGGCAGG ATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGGGCGGGTAGACAGGATTTCAGGTGGGGGGGGTAGGGAGGATT TCAGGTGGGCGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTC AGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCA GGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAG GTGGGGGGGGTAGGGAGGATTTCAGGTGGGCGGGTAGACAGGATTTCAGG TGGGGGGGTAGACAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(846): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTAC ATACCCGGGCCACTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0041 a0002c0003t0002g0041	1	296	0.0034	853	c.368 others(870): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGT AGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGG GTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCC GGGTATGTAGTAAGTAAGTAAGTGGCCCGGTATGTAGTAAGTACGTGGCC CGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGG CCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGT GGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar

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