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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CAPN15_chr16_522712_559636	544780	T T	TCGTCTCC others(547): Show TCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTC CCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCA CGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGC CGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCG CCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTC GTCGC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0261 a0003c0012t0001g0261	1	410	0.0024	554	c.-22 others(571): Show c.-22-2036_-22-2035insGTCTCCCCCACGTCGCCTCCCCCCACGT CGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGT CGCCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTC CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCA CGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACG TCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGT CGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCAC GTCGTCGCCTCCCCCACGTCGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHODL_chr21_18239833_18272370	18251473	T T	TTATTTAT others(547): Show TTATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAAT ATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATA TTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATA TTTATTTAATATATAAAATAAATATTTATTTTATATATAAAATAAATATT TATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTAA TATATAAAATATTTATTTTAATATATAAAATATTTATTTTAATATATAAA ATAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0050 a0001c0001t0007g0050	1	402	0.0025	554	c.80- others(569): Show c.80-5000_80-4999insTATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTATATATAAAATAAATATTTATTTTAATATATA AAATAAATATTTATTTAATATATAAAATAAATATTTATTTTAATATATAA AATAAATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAA ATAAATATTTATTTTATATATAAAATAAATATTTATTTTATATATAAAAT AAATATTTATTTAATATATAAAATAAATATTTATTTAATATATAAAATAA ATATTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATAAAATATTTATTTTAATATATAAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(547): Show TCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCC CCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCTTCCTCCTCCTCTTCC TCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCC TTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTT CCTCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	270	0.0037	554	c.162 others(575): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCTTC CTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCT CCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCC TCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(547): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCC CCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCC TCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCC TTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTT CCTCC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18947.hp1 NA18612.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0094 a0001c0001t0018 a0001c0001t0094	a0001c0001t0018g0104 a0001c0001t0094g0081 a0001c0001t0018g0104 a0001c0001t0094g0081	2	270	0.0074	554	c.162 others(575): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTC CTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCT CCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCC TCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(547): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCC CCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCTTCCTCCTCCTCTTCC TCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCC TTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTT CCTCC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0022 a0001c0001t0005g0022	1	270	0.0037	554	c.162 others(575): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCTTC CTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCT CCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCC TCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(547): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC TTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCC CCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCC TCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCC TTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTT CCTCC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18994.hp2 NA18957.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0091 a0001c0001t0085 a0001c0001t0091	a0001c0001t0085g0107 a0001c0001t0091g0098 a0001c0001t0085g0107 a0001c0001t0091g0098	2	270	0.0074	554	c.162 others(575): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCTTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTC CTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCT CCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCC TCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(547): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATATATATATTTATAAATA TATAAATATATATAAAAATATATATAAATATATAAAAAAATATAAATATA TATAAATATATAAATATATGTAAATATATATAAATATATATATAAATATA TATATAAATATATATATAAATATATATATAAATATATATATATAAATATA TATAAATATATAACTATATAAATAAATATATATAAATATATAAATATATA AAAATATATATAAATATATATGTAAATATATAAATATATATAAATATATA TAAATATATATAAGTATATAAATATATATATAAATATATATAAGTATATA AATATATATATAAATATATATAAGTATATAAATATATATAAATATATATA AGTATATAAATATATATATAAATATATATAAGTATATATAAATATATATA AATATATATAAGTATATATAAATATATAAAAATATATATAAGTATATATA AATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0154 a0001c0001t0005g0154	1	264	0.0038	554	c.181 others(573): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATATATTTAT ATATTTACATATATATTTATATATATTTTTATATATTTATATATTTATAT ATATTTATTTATATAGTTATATATTTATATATATTTATATATATATATTT ATATATATATTTATATATATATTTATATATATATTTATATATATATTTAT ATATATTTACATATATTTATATATTTATATATATTTATATTTTTTTATAT ATTTATATATATTTTTATATATATTTATATATTTATAAATATATATATAT TTATATATATTTACATATATATTTAGAATTACATATTTATATATATATTT ATATTTATATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(547): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGG GGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0322 a0002c0002t0015g0322	1	344	0.0029	554	c.85- others(571): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGC CTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTG CCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(547): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAA GGGGGCAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAG GAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGAGGGGGAAGGCAGGAA GGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAG GGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0309 a0002c0011t0002g0309	1	344	0.0029	554	c.85- others(571): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTC CCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCT TGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCC TCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL5A1_chr9_134636803_134849843	134729536	A A	ATGCGGGC others(547): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGTGAGAGTGTGTGTGA GCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGT GTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGT GAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGT GTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGA GCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGT GCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCAC GGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGC GGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGT GCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCAT GCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGT GTGCG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0143 a0001c0011t0003g0143	1	272	0.0037	554	c.925 others(569): Show c.925-666_925-665insTGAGAGTGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729536	A A	ATGCGGGC others(547): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGTGAGAGTGTGTGTGA GCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGT GTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGT GAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGT GTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGA GCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGT GCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCAC GGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGC GGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGT GCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCAT GCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGT GTGCG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01891.hp1 HG03516.hp2 others(5): Show HG01255.hp1 HG01891.hp1 HG03516.hp2 NA18961.hp1 NA19005.hp1 NA19043.hp1 NA19074.hp1 NA20300.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0044 a0006c0040	a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0006t0047 a0001c0008t0034 a0001c0044t0057 a0006c0040t0009	a0001c0001t0004g0102 a0001c0002t0001g0156 a0001c0002t0002g0077 others(5): Show a0001c0001t0004g0102 a0001c0002t0001g0156 a0001c0002t0002g0077 a0001c0002t0005g0065 a0001c0006t0047g0019 a0001c0008t0034g0151 a0001c0044t0057g0042 a0006c0040t0009g0189	8	272	0.0294	554	c.925 others(569): Show c.925-666_925-665insTGAGAGTGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CTDP1_chr18_79674803_79759503	79726798	G G	GGGGGTGA others(547): Show GGGGGTGACGCCGTTGCTGGTGGATGGCTGTCGGGGTGGGGTGACGCCGT TGCTGGTGGATGGCTGTGGGGGATGGGGGTGACGCCGTTGCTGGTGGATG GCTGTCGGGGTGGGGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGATGG GGGTGACGCCATTGCTGGTGGACGGCTGTGGGGGATGGGGGTGACGCCAT TGCTGGTGGACGGCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGACGGC TGTGGGGGATGGGGGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGTGGG GTGACGCCGTTGCTGGTGGACTGCTGTGGGGGTGGGGTGACGCCGTTGCT GGTGGATGGCTGTCGGGGTGGGGTGACGCCGTTGCTGGTGGATGGCTGTG GGGGATGGGGGTGACGCCGTTGCTGGTGGATGGCTGTCGGGGTGGGGTGA CGCCGTTGCTGGTGGACGGCTGTGGGGGATGGGGGTGACGCCATTGCTGG TGGACGGCTGTGGGGGATGGGGGTGACGCCATTGCTGGTGGACGGCTGTG GGGGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00733.hp1 others(5): Show HG00280.hp2 HG00323.hp1 HG00733.hp1 HG01074.hp2 HG01123.hp2 HG01516.hp2 HG02683.hp2 NA20905.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0011 a0004c0004t0003 a0004c0004t0011	a0004c0004t0003g0331 a0004c0004t0003g0332 a0004c0004t0003g0334 others(5): Show a0004c0004t0003g0331 a0004c0004t0003g0332 a0004c0004t0003g0334 a0004c0004t0003g0335 a0004c0004t0003g0336 a0004c0004t0003g0337 a0004c0004t0003g0338 a0004c0004t0011g0333	8	378	0.0212	554	c.241 others(573): Show c.2418-2099_2418-2098insCGTTGCTGGTGGATGGCTGTCGGGGT GGGGTGACGCCGTTGCTGGTGGATGGCTGTGGGGGATGGGGGTGACGCCG TTGCTGGTGGATGGCTGTCGGGGTGGGGTGACGCCGTTGCTGGTGGACGG CTGTGGGGGATGGGGGTGACGCCATTGCTGGTGGACGGCTGTGGGGGATG GGGGTGACGCCATTGCTGGTGGACGGCTGTGGGGGTGGGGTGACGCCGTT GCTGGTGGACGGCTGTGGGGGATGGGGGTGACGCCGTTGCTGGTGGACGG CTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGACTGCTGTGGGGGTGGGG TGACGCCGTTGCTGGTGGATGGCTGTCGGGGTGGGGTGACGCCGTTGCTG GTGGATGGCTGTGGGGGATGGGGGTGACGCCGTTGCTGGTGGATGGCTGT CGGGGTGGGGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGATGGGGGTG ACGCCATTGCTGGTGGACGGCTGTGGGGGATGGGGGTGACGCCATTGCTG GTGGACGGCTGTGGGGGTGGGGTGACGC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79726871	G G	GAAGGGGG others(547): Show GAAGGGGGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGATGGGGGTGAC GCCATTGCTGGTGGACGGCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGG ACGGCTGTGGGGGATGGGGGTGACGCCGTTGCTGGTGGACGGCTGTGGGG GATGGGGGTGACGCCATTGCTGGTGGACGGCTGTGGGGGTGGGGTGACGC CGTTGCTGGTGGACGTCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGAC TGCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGATGGCTGTCAGGGTGG GGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGATGGGGGTGACGCCATT GCTGGTGGACGGCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGACGGCT GTGGGGGATGGGGGTGACGCCATTGCTGGTGGACGGCTGTGGGGGTGGGG TGACGCCGTTGCTGGTGGACTGCTGTGGGGGTGGGGTGACGCCGTTGCTG GTGGATGGCTGTCGGGGTGGGGTGACGCCGTTGCTGGTGGATGGCTGTGG GGGAT	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0318 a0004c0004t0001g0318	1	378	0.0027	554	c.241 others(573): Show c.2418-2036_2418-2035insAAGGGGGTGACGCCGTTGCTGGTGGA CGGCTGTGGGGGATGGGGGTGACGCCATTGCTGGTGGACGGCTGTGGGGG TGGGGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGATGGGGGTGACGCC GTTGCTGGTGGACGGCTGTGGGGGATGGGGGTGACGCCATTGCTGGTGGA CGGCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGACGTCTGTGGGGGTG GGGTGACGCCGTTGCTGGTGGACTGCTGTGGGGGTGGGGTGACGCCGTTG CTGGTGGATGGCTGTCAGGGTGGGGTGACGCCGTTGCTGGTGGACGGCTG TGGGGGATGGGGGTGACGCCATTGCTGGTGGACGGCTGTGGGGGTGGGGT GACGCCGTTGCTGGTGGACGGCTGTGGGGGATGGGGGTGACGCCATTGCT GGTGGACGGCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGACTGCTGTG GGGGTGGGGTGACGCCGTTGCTGGTGGATGGCTGTCGGGGTGGGGTGACG CCGTTGCTGGTGGATGGCTGTGGGGGAT	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	10/12			chr18	TogoVar
CUL4A_chr13_113204613_113272108	113232020	A A	ACCACTAC others(547): Show ACCACTACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTC ACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCA TTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCC CACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCAC TACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	396	0.0025	554	c.513 others(571): Show c.513-1153_513-1152insTACCATTACTGCTGCCACCACTACCCGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCAT TACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCC ACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACT ACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTG TCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCAC CATTACTGTCACCACTACCCGCCCAC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
DCLK2_chr4_150073445_150262438	150251202	A A	ACACATCC others(547): Show ACACATCCCTCACACCCCCCACACCCCCCACACCACACATCCCTCACACC CCCCACACCACACATCCCTCACACCCCCCACACCCCCCACACCACACATC CCCCACACCCCCCACACCCCCACACACCACACATCCCTCACACCCCACAC ACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCCAACACCCCC ACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCACACCC CCCAACACCCCCACACCCCCCACACCCCCACACCCCCACACCCCCACACA CCCCCCACACCACACATCCCTCACACCCCCCACACCCCCCAACACCCCCA CACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCC CCAACACCCCCACACCCCCACACACCCCCCACACCCCCCACACCACACAT CCCTCACACCCCCCACACCCCCCACACCACACATCCCCCACACCCCCCAC ATCCCCCATACCCCCCACACCCCCATACCCCTCACATCCCCCACACCCCC ATCTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0017 a0001c0003t0008g0017	1	116	0.0086	554	c.207 others(573): Show c.2073+1519_2073+1520insACATCCCTCACACCCCCCACACCCCC CACACCACACATCCCTCACACCCCCCACACCACACATCCCTCACACCCCC CACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACACC ACACATCCCTCACACCCCACACACCCCCCACACCACACATCCCCCACACC CCCCACACCCCCCAACACCCCCACACCCCCACACACCCCCCACACCACAC ATCCCTCACACCCCCCACACCCCCCAACACCCCCACACCCCCCACACCCC CACACCCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCC CCCACACCCCCCAACACCCCCACACCCCCACACACCCCCCACACCACACA TCCCCCACACCCCCCACACCCCCCAACACCCCCACACCCCCACACACCCC CCACACCCCCCACACCACACATCCCTCACACCCCCCACACCCCCCACACC ACACATCCCCCACACCCCCCACATCCCCCATACCCCCCACACCCCCATAC CCCTCACATCCCCCACACCCCCATCTCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DEAF1_chr11_639233_700222	665147	G G	GTCCTGGC others(547): Show GTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACT CGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACA GGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAG AGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGACTCAGCT ATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGT CCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCG GTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGG GCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAG GAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTAT TCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCC TGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGT CACTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01496.hp2 HG02004.hp2 others(5): Show HG01106.hp2 HG01496.hp2 HG02004.hp2 HG02040.hp1 HG02735.hp2 HG03017.hp2 HG03710.hp2 NA20905.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0013 a0001c0004t0001g0020 a0001c0004t0001g0021 others(5): Show a0001c0004t0001g0013 a0001c0004t0001g0020 a0001c0004t0001g0021 a0001c0004t0001g0022 a0001c0004t0001g0024 a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0028	8	345	0.0232	554	c.150 others(573): Show c.1503+9388_1503+9389insGAGTGACCGAGTGTGACGCCCTGTCC TCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGT GACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGA GTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAG CCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTG TGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTC CTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGA CGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGTCAGGACTCAGAGT GACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCC AGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTG AATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCT CCTCTCGGTGTGAATAGCTGAGCCAGGA	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DNAH17_chr17_78418697_78582396	78438438	A A	AGGAGGAG others(547): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGG AGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGG AGGAGGGAGGAGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGG AGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAG GAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGA GGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGG AGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGA GGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGG GAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGG AGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGG AGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGG AGGAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0092 a0092	a0092c0092 a0092c0092	a0092c0092t0001 a0092c0092t0001	a0092c0092t0001g0134 a0092c0092t0001g0134	1	252	0.0040	554	c.118 others(573): Show c.11806-571_11806-570insCTCCTCCTCCTCCTCCCTCCTCCTCC TCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCC CTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTCC TCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTC CTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCC TCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCC CTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCCCCT CCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTC CCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTC CTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DPP6_chr7_154047398_154899285	154093469	C C	CATCATAT others(547): Show CATCATATACACCACACACAAACCACACACACAAACACAAACACCACACA TACCACGCACACCTACACCCAAAGACACTGTACACCATACACCACACTGT ACACACCACACACCACACCACACCAGCCACCACACATACAGCACACACAC AAACACACCACACACACTACACTATATACCACACACACTCCAAACCCCAC ACACATTACACATCACACCACACACACCAGATAACATACCACACACTACA TACCACATGTACCACACACAACACACATCCGACATACCACACACAGCACA TACCACATACCACATTACATACCACACCACATACCACACATCCTACATAC CACATCATACACACCACACACAACACATACTACACACCCCACAGTACCAC ATACACCACATAACACACTACATGCCACACTTCTTCCATACATCATACAT ACCACAAACATCACACAGCACACAGCACATACCACACATTCCACATACGA CATCATACACACCACACACACTGCACATATTATACCAACACATCCCACAT ACCAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00673.hp2 others(5): Show HG00558.hp1 HG00558.hp2 HG00673.hp2 HG01952.hp1 HG02040.hp2 HG02129.hp2 NA18747.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0017 others(3): Show a0001c0001 a0001c0007 a0001c0017 a0001c0024 a0002c0002 a0002c0013	a0001c0001t0005 a0001c0001t0016 a0001c0007t0019 others(5): Show a0001c0001t0005 a0001c0001t0016 a0001c0007t0019 a0001c0017t0020 a0001c0024t0028 a0002c0002t0022 a0002c0002t0029 a0002c0013t0018	a0001c0001t0005g0032 a0001c0001t0016g0005 a0001c0007t0019g0037 others(5): Show a0001c0001t0005g0032 a0001c0001t0016g0005 a0001c0007t0019g0037 a0001c0017t0020g0033 a0001c0024t0028g0003 a0002c0002t0022g0030 a0002c0002t0029g0002 a0002c0013t0018g0026	8	38	0.2105	554	c.243 others(573): Show c.243+40440_243+40441insCACAAACACCACACATACCACGCACA CCTACACCCAAAGACACTGTACACCATACACCACACTGTACACACCACAC ACCACACCACACCAGCCACCACACATACAGCACACACACAAACACACCAC ACACACTACACTATATACCACACACACTCCAAACCCCACACACATTACAC ATCACACCACACACACCAGATAACATACCACACACTACATACCACATGTA CCACACACAACACACATCCGACATACCACACACAGCACATACCACATACC ACATTACATACCACACCACATACCACACATCCTACATACCACATCATACA CACCACACACAACACATACTACACACCCCACAGTACCACATACACCACAT AACACACTACATGCCACACTTCTTCCATACATCATACATACCACAAACAT CACACAGCACACAGCACATACCACACATTCCACATACGACATCATACACA CCACACACACTGCACATATTATACCAACACATCCCACATACCATATCATA TACACCACACACAAACCACACACACAAA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
EBF2_chr8_25836725_26050413	26005369	T T	TTATATAT others(547): Show TTATATATTATATATAATATATAATTATATATTATATATAATTATATATT ATATATAATATATAATTATATATAATATATAATATATTTATATATAATAT ATAATATATTATATATTATATATATTATATAAATATATAATATATTATAT ATAATTATATATTATATATAATATATAATATATAATTATATGTTATATAT TATATATATTATATATTATATATATATTATATATATAATATATATTATAT ATTAAATTATATATAATATATATTATATATATAATTTATATATATAAAAT ATATTATATATTATAAATATATATATTTTATATATAAAATATATATTTTA TAATATATAATATAGAAATATATATTATATAATATATAATTATATATAAT TATATATTATATAATATATATTTCTATATTATATATTTATAATGTATAAT ATATAAATATATTATAAATATATATTATATAGTATATAATGCATTATAAA TATATTATATTTATATATTATAAATATATTACATATTTATATATTATATA TAATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0153 a0001c0001t0034g0153	1	220	0.0046	554	c.551 others(573): Show c.551+27715_551+27716insTATTATATATAATATATAAATATGTA ATATATTTATAATATATAAATATAATATATTTATAATGCATTATATACTA TATAATATATATTTATAATATATTTATATATTATACATTATAAATATATA ATATAGAAATATATATTATATAATATATAATTATATATAATTATATATTA TATAATATATATTTCTATATTATATATTATAAAATATATATTTTATATAT AAAATATATATATTTATAATATATAATATATTTTATATATATAAATTATA TATATAATATATATTATATATAATTTAATATATAATATATATTATATATA TAATATATATATAATATATAATATATATAATATATAACATATAATTATAT ATTATATATTATATATAATATATAATTATATATAATATATTATATATTTA TATAATATATATAATATATAATATATTATATATTATATATAAATATATTA TATATTATATATAATTATATATTATATATAATATATAATTATATATAATA TATAATTATATATTATATATAATATATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EIPR1_chr2_3183970_3382818	3315642	C C	CCCCATAC others(547): Show CCCCATACACACCCCCTACCACCACCATCACCACCATCCCCATCCACACC CCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACC ATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCC CCATCCACACCCCCTACCACCATCCTCACCACCATCCCCATCCACACCCC CTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCAT CACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCC ATCCACACCCCCTACCACCACCATCACCACCATCCCTATCCACACCCCCT ACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCA CCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCAT CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCACCATCACCACCATCCCCACACACACCCCCTACCACCATCCTCACC ACCAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	250	0.0040	554	c.259 others(573): Show c.259+22374_259+22375insATGGTGGTGAGGATGGTGGTAGGGGG TGTGTGTGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGAT GGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTG GTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTG TGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATAGGGATGG TGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGT GGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTG GATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTG GTGAGGATGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGTATGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315942	C C	CCACACCC others(547): Show CCACACCCCCTACCACCACCATCACCACCATCCCTATCCACACCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCACAC ACACCCCCTACCACCATCCTCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCACACACACCCCCTACCACC ACCATCACCACCATCCCCATCCACACCCCCTACCACCATCCTCACCACCA TCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACAC CCCCTACCACCACCATCACCACCATCCCCATACACACCCCCACCACCATC CTCACCACCATCCCCATACACACCCCCTACCACCACCATCACCACCATCC CCATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0173	1	250	0.0040	554	c.259 others(573): Show c.259+22074_259+22075insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGTATGGGGATGGTGGTGAGGATGGTGGTGGGGGTGTGTAT GGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTG ATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTAG GGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTGTGG GGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAT GGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGG GGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGG ATGGTGGTGAGGATGGTGGTAGGGGGTGTGTGTGGGGATGGTGGTGATGG TGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGG TGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATAGGGAT GGTGGTGATGGTGGTGGTAGGGGGTGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
IFNAR1_chr21_33319970_33364864	33321822	A A	ATGTGGAA others(547): Show ATGTGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGCG TGGAACCAATACATATGTGGAACATACATGCGTGGAACCAATACATATGT GGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGCGTGGA ACCAATACATATGTGGAACATACATGTGTGGAACCAATACATATGTGGAA CTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATA TGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTGT GGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTG GACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAA CCAATACATATGTGGAACATACATGTGTGGAACCAATACATATGTGGAAC ATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAA TACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATAC ATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG03831.hp2 others(2): Show HG01167.hp1 HG01169.hp2 HG03831.hp2 HG04184.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0007 a0001c0001t0011g0011 a0001c0001t0001g0007 a0001c0001t0011g0011	5	323	0.0155	554	c.-32 others(565): Show c.-3234_-3233insTGTGGAACATACATGCGTGGAACCAATACATATG TGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGCGTGG AACCAATACATATGTGGAACATACATGCGTGGAACCAATACATATGTGGA ACATACATGCGTGGAACCAATACATATGTGGAACATACATGTGTGGAACC AATACATATGTGGAACTGTGGAACCAATACATATGTGGACCATACATGTG TGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGT GGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGA ACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGAC CATACATGTGTGGAACCAATACATATGTGGAACATACATGTGTGGAACCA ATACATATGTGGAACATACATGTGTGGAACCAATACATATGTGGACCATA CATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATAC ATATGTGGACCATACATGTG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3147		chr21	TogoVar
INSR_chr19_7107265_7299414	7153357	A A	ACACCACA others(547): Show ACACCACACACCCCACACACACCACACACCACACACACCAAACACACCAT ACATGCACCACACACACACCACATGCACACCTCACACACCATACCACACA CCACACACACCACACAAATCACACACATACTACACACACCCACGCCACAC ACCACACACACACCACACATGCCACACAACGGACCACACATACACCACAC ACCACAAACACAACCACACACACACTATACACACACACCACACACACCAC ACAACAGACCACACATACACACACCACACACCACACACACCATACACACA CACCACACATACCACACACACCACACACACAACCACACACACACACCACA CACACAACACACAACAGACCACACATACACACACCACACATACCACACAC ACACCACACATACCACACACACACCACACACACAACCACACACACCACAC CATACACACAACCACACACACACCATACACGCACCACACACACACCACAT ACACACTTCACACACACCACACACCACACAAATCACACACACCACCACAC CCACG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0168 a0001c0018t0168	a0001c0018t0168g0298 a0001c0018t0168g0298	1	300	0.0033	554	c.203 others(571): Show c.2030-431_2030-430insCGTGGGTGTGGTGGTGTGTGTGATTTGT GTGGTGTGTGGTGTGTGTGAAGTGTGTATGTGGTGTGTGTGTGGTGCGTG TATGGTGTGTGTGTGGTTGTGTGTATGGTGTGGTGTGTGTGGTTGTGTGT GTGGTGTGTGTGTGGTATGTGTGGTGTGTGTGTGGTATGTGTGGTGTGTG TATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTGTGTGGTTGTG TGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGTGTGTGGTGT GTGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGTGTGGTGTGTGTGTA TAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTATGTGTGGTCCGTT GTGTGGCATGTGTGGTGTGTGTGTGGTGTGTGGCGTGGGTGTGTGTAGTA TGTGTGTGATTTGTGTGGTGTGTGTGGTGTGTGGTATGGTGTGTGAGGTG TGCATGTGGTGTGTGTGTGGTGCATGTATGGTGTGTTTGGTGTGTGTGGT GTGTGGTGTGTGTGGGGTGTGTGGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(547): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACC CCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCC CACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACC CCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGTCA CCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAG CCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCA CAGCT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0203 a0002c0002t0001g0203	1	312	0.0032	554	c.-41 others(569): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCA CAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCC CCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGTC ACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACA GCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCC ACAGCTGCCCCCACAGCCGCCCCC	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(547): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCTCACAGCCACCCCCC CACAGCCACCCCCCTCCACAGCCACCCCCCCCCACAGCCGCCCCCCCACA GCCGCCCCCACAGCCACCCCCCCCACAGCCGCCCCCCACAGCCACCCCCC CACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACC CCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCC GCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAG CCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACA GCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCC CACAGCCGCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAG CCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCA CAGCT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	312	0.0032	554	c.-41 others(569): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCTCACAGCCACCCCC CCACAGCCACCCCCCTCCACAGCCACCCCCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCACAGCCACCCCCCCCACAGCCGCCCCCCACAGCCACCCCC CCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCAC CCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGC CGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACA GCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCAC AGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCC CCACAGCCGCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCA CCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCA GCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCC ACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KREMEN1_chr22_29068035_29151820	29120414	A A	AGGAAACA others(547): Show AGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGG TGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGG GAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGG AGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGG AAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGA TGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAG AGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGG AGGGAGAGGTGATGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGA GGAGGGAGAGGTGATGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATG GAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATG GAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTG ATAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19030.hp1 HG02257.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0054 a0001c0001t0035 a0001c0001t0054	a0001c0001t0035g0294 a0001c0001t0054g0293 a0001c0001t0035g0294 a0001c0001t0054g0293	2	368	0.0054	554	c.353 others(569): Show c.353-915_353-914insAGGAAATGGAGGAGGGAGAGGTGATGATGG AAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGA TGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAG AGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGA GGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAA CAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGA TGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGG TGATGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGA GGTGATGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGA GAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGG AGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATAATGGAA ACAGGGAGGAGGGAGAGGTGATGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(547): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACACA CCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTAC TACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTT ACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGC TTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA CACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCT ACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0138 a0001c0001t0005g0138	1	296	0.0034	554	c.368 others(571): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTA GGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGT GTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCC GGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAG CGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTA AGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAG TAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGT GTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGTGGC CCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG GCCCGGGTATGTAGTAAGTACGTGGCCCGGGTATGTAGTAAGTAAGTGGC CCGGGTATGTAGTAAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(547): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACACA CCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTAC TACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTT ACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGC TTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA CACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0271 a0001c0001t0005g0271	1	296	0.0034	554	c.368 others(571): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTGT GTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCC GGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAG CGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTA AGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAG TAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGT GTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGTGGC CCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG GCCCGGGTATGTAGTAAGTACGTGGCCCGGGTATGTAGTAAGTAAGTGGC CCGGGTATGTAGTAAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MLPH_chr2_237482251_237560322	237543215	G G	GGCACGGT others(547): Show GGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGT GGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGAGGGGACAGTGGTG AGTGGGCACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACATTGGTG AGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGACAGTGGTGA GTGGGGACATTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGT GGGCACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGCACAGTGGTGAG TGGGGGGACAGTGGTGAGTGGGGACATTGGTGAGTGGGGACAGTGGTGAG TGGGGACAGTGGTGAGTGGGCACAGTGGTGAGTGGAGGGGACAGTGGTGA GTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGA GTGGAGGGGACAGTGGTGAGTGGGCACAGTGGTGAGTGGGGGGACAGTGG TGAGTGGGGGGACAGTGGCAAGTGGGGACATTGGTGAGTGGGGACAGTGG TGAGT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0096	1	286	0.0035	554	c.153 others(571): Show c.1539+557_1539+558insCACGGTGGTGAGTGGAGGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGT GAGTGGAGGGGACAGTGGTGAGTGGGCACAGTGGTGAGTGGGGGGACAGT GGTGAGTGGGGACATTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGG TGAGTGGGGGACAGTGGTGAGTGGGGACATTGGTGAGTGGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGCACAGTGGTGAGTGGAGGGGACAGTGG TGAGTGGGCACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACATTGG TGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGCACAGTGGTG AGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTG GCAAGTGGGCACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGCACAGT GGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGACA TTGGTGAGTGGGGACAGTGGTGAGTG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543405	G G	GGAGGGGA others(547): Show GGAGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGT GAGTGGGGGGACAGTGGCAAGTGGGCACGGTGGTGAGTGGAGGGGACAGT GGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAG TGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGAC AGTGGCAAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAG TGGTGAGTGGGGGGACAGTGGCAAGTGGGCACGGTGGTGAGTGGAGGGGA CAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGCGAGTGGGG ACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGG ACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGG ACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGA GGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGCACGGTAGTGA GTGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	286	0.0035	554	c.153 others(571): Show c.1539+747_1539+748insAGGGGACAGTGGTGAGTGGAGGGGACAG TGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACGG TGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGG ACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGG ACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGACAGTGGTGAGTGGGG ACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGC ACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGA GGGGACAGTGGCGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGG GGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGT GGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGG AGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGT GAGTGGGGGCACGGTAGTGAGTGGAG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(547): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGG CCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGC CCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGTG CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCA CGTCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18522.hp2 HG02615.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0001 a0001c0002t0001 a0001c0006t0001	a0001c0002t0001g0130 a0001c0006t0001g0118 a0001c0002t0001g0130 a0001c0006t0001g0118	2	256	0.0078	554	c.241 others(573): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(547): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGG CCCTCCTGCCCTGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGATGGAGGTGGGGGGGGGTCAGTCCCCCCGCCCGGCCAGCCGC CCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGTG CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCA CGTCC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0056 a0001c0013t0001g0056	1	256	0.0039	554	c.241 others(573): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGA CTGACCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCAGGGCAGGAGGGCCGACCCCCCCACACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACAGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ATATATAT others(547): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATGT TCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	364	0.0028	554	c.394 others(569): Show c.394-662_394-661insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATGTTCATATATATATTCATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATGTTCATATATATGTTCATATATATATGTTCATA TATATGTTCATATATATATGTTCATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ATATATAT others(547): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATGTTC ATATATATATGTTCATATATATGTTCATATATATATATTCATATATATAT GTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	364	0.0028	554	c.394 others(569): Show c.394-662_394-661insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATGTTCATATATATATTCATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATA TATATATTCATATATATATGTTCATATATATGTTCATATATATATGTTCA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(547): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTAT ATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	350	0.0029	554	c.-28 others(565): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAA ATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(547): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTAT ATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 NA18965.hp1 HG00544.hp1 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0004 a0001c0002t0002g0006	2	350	0.0057	554	c.-28 others(565): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAA ATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(547): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTAT ATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	350	0.0029	554	c.-28 others(565): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAA ATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NCAPG2_chr7_158626169_158709804	158667983	T T	TCCTTACC others(547): Show TCCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCCACTACTGGGTCC CTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCC TGTGGCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCT TACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCC GCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTG GGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACC CACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTGTGGCCCTCCACCCT CTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCCACTACTGGGTCCCT CCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTAC TGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTT ACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCG CCCTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	378	0.0027	554	c.148 others(573): Show c.1480-3234_1480-3233insGAGGGCGGAGGGACCCAGTAGTGGGT AAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAG GAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCACAGGGTA GGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACC CAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCG GAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGGAGGGCGGAGGGCCACAGGGTAGGTAAGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGA AGGCGGAGGGACCCAGTAGTGGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NOTCH1_chr9_136489433_136551048	136535841	T T	TCACTCAG others(547): Show TCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGAGTGGGTGG AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTG GAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGATCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGG GAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGC AGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCTGGGGCAA TGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGATCACTCAGGATCCCTCCC GGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGATCACTCAGGAT CCCTCCCGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCAC TCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGG GGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGGGTGGAGAG GGGAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0102 a0001c0006t0004g0102	1	324	0.0031	554	c.140 others(571): Show c.140+8182_140+8183insCTCCCCTCTCCACCCACCCTGCACCCAT TGCCCCAGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTG CACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCC CACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGATCCCCCCTCCAC CCACTCCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGATCCCC CCTCCACCCACTCCCACCCTGCACCCATTGCCCCAGGAGGGATCCTGAGT GCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCGG GAGGGATCCTGAGTGATCCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCC CGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(547): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGTTT TAAACTAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACT ATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTAT AGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTTAAACTATATAG TTTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATA TATAGTTTTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTAT ATAGTTTATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATAT AGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTT TAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTTAAAACTATATA GTTTATGTAGTTTTAAACTAGTTTATATTTTTTTATATAGTTTAAACTAT ATAGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03834.hp2 HG01167.hp2 HG03834.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0124 a0002c0001t0001g0135 a0002c0001t0001g0124 a0002c0001t0001g0135	2	244	0.0082	554	c.342 others(573): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAA ACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAAC TATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTAT ATAGTTTATATAGTTTAAAACTATATAAACTATATAGTTTAAAACTATAT AAACTATATAGTTTTAAACTATATAAACTATAGTTTTAAACTATATAAAC TATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTA TATAGTTTTAAACTATATAAACTAGTTTAAAACTATATATAAACTATATA GTTTAAAACTATAAACTATATAGTTTAAAACTATATATAAACTATATAGT TTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NT5DC3_chr12_103767310_103846234	103768582	G G	GGAGGGAG others(547): Show GGAGGGAGAGGGAAAGGGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGA GGGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGG GGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGG GAGAGGGAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGA GGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGG GAGGGGGCGGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAG GGAGAGGGAGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAG GGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAG GGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGA GAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAG GGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAGAGGGAGTG AGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0009 a0002c0007t0009	a0002c0007t0009g0318 a0002c0007t0009g0318	1	386	0.0026	554	c.92 others(565): Show c.9246_*9247insTCTCTCACTCCCTCTCCCTCTCTCTCCCTCTCCC TCTCTCTCCCTCTCCCTCCCCCTCTCCCTCTCCTTCTCCCTCCCCCTGTC CCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCTC CCCCATCTCTCTCCCTCCCCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTC CCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTC TCCCTCCCTCTCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCCC TCCCTCCCCTCCCGCCCCCTCCCTCTCTCTCCCCCCTCTCCCCCTCCCCT CCCTCTCCCCCCTCCCCTCCCTCTCCCTCTCTCCCTCCCTCTCTCTCCCT CTCCCTGTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCCT GTCCCTGTCCCTCTCCCTCCCCCCTCCCCCTCCCTCTCTGTCCCCCCTCT CCCCCTACCCCTCCCTCTCCCTCCCTCCCTGTCCCCCCTCTCCCCCTCCC TCCCCCTTTCCCTCTCCCTC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3727		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768606	G G	GGAGGGAG others(547): Show GGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGGAGAGGGAGGGGTAG GGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACAG GGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGAGGGGGAGGGAGAGG GAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGG GGAGGGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGG GGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAG AGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAG GGAGAGGGAGAGGGAGGGAGAGGGAGGGAGGGGGGAGGGGAGAGAGATGG GGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGA GGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGG AGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAG AGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0006 a0001c0004t0002g0006	1	386	0.0026	554	c.92 others(565): Show c.9222_*9223insTCCCTCTCTCTCCCTCTCTCTCTCACTCCCTTTC CCTCTCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCCCCCTCTCCCTCT CCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCC ATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCCTCCCCCCTCCCTCCC TCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTC TCCCTCCCTCTCCCTCCCTCTCTCCCTCTCCCTCCCTCTCCCTGTCCCTC TCCCTCCCTCCCCTCCCACCCCCTCCCTCTCTCTCCCCCCTCTCCCCCTC CCCTCCCTCTCCCCCCCCTCCCCTCCCTCTCCCTCTCTCCCTCCCTCTCT CTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTCCCCTCTCCCTCCC TCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTCCCCCTCC CTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCCTCCCTCCCTGT CCCCCCTCTCCCCCTCCCTC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3703		chr12	TogoVar
NTF3_chr12_5427108_5500299	5481483	G G	GCACATAC others(547): Show GCACATACAAACAGAATAACACCACACACACACCACAGACACAGAAATAA CACCACACACACATGCACATACACACACCACATACACACAGAATAACACC ACACACACATGCACACACACACAGAATAACACCACACACGCACACACACA CCACAGACAGACATAACACCACACACACATGCACATACACACACCACATA CACACAGAATAACACCACACACACATGCACACACACACAGAATAACACGA TACACACATGCACATACACCACAGACACACACAGAATAGCGCGACACACG TGCACACATAGACATACACACACCACACACACAGAATAACACCAGAAACA TGCACACACAGACATACACACACCACACACGGAATAACACCACCCACACA TGCGCACACACACAGAATAACACCACACACACGCGCATACACACACGCAT ACACACAGATATACACCACACACAGAATAACACCACACACACATGCACAC ATGCATACAGACATACATCACACACACAATAACATAACACACATGCACAC ACAGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0168 a0002c0003t0001g0168	1	370	0.0027	554	c.19- others(571): Show c.19-12707_19-12706insTACAAACAGAATAACACCACACACACAC CACAGACACAGAAATAACACCACACACACATGCACATACACACACCACAT ACACACAGAATAACACCACACACACATGCACACACACACAGAATAACACC ACACACGCACACACACACCACAGACAGACATAACACCACACACACATGCA CATACACACACCACATACACACAGAATAACACCACACACACATGCACACA CACACAGAATAACACGATACACACATGCACATACACCACAGACACACACA GAATAGCGCGACACACGTGCACACATAGACATACACACACCACACACACA GAATAACACCAGAAACATGCACACACAGACATACACACACCACACACGGA ATAACACCACCCACACATGCGCACACACACAGAATAACACCACACACACG CGCATACACACACGCATACACACAGATATACACCACACACAGAATAACAC CACACACACATGCACACATGCATACAGACATACATCACACACACAATAAC ATAACACACATGCACACACAGTCACA	NTF3	ENSG00000185652.12	transcript	ENST00000423158.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZK1IP1_chr1_47178582_47195036	47184482	C C	CTCCATCC others(547): Show CTCCATCCCCCACTAAGCTCCATCCCCCACTAAACCCATCTCCCAACAAG CTCCATCCCCCACCAAGCTCCGTCCGCCACCAAGCTCCATCCCCCACTAA ACCCATCCCCCACTGAGCTCCATCCTCCACTGAACCCATCCCCACTGAGT CCATCTCCCACTGAGTCCAACCCCACTGAACCCATCCCCCACTGAACCCA TCCCCCACTGAACCCATCCCCCACTGAACCCATCCCTCACTGAACCCATC CTCCACTGAATCCATCCCCCACTGAGCTCCATCCCCCACTGAACCCATCC CCCACTGAACCCATCCCCCACTGAATCCATCCCCCACTGAGCTCCATCCC CCACTGAACCCATCCCCCACTGAATCCATCCCCCACTGAGCTCCATCCCC CACTGAACCCATCCCTCACTGAACCCATCCTCCACTGAATCCATCCCCCA CTGAGCTCCATCCCCCACTGAACCCATCCCCCACTGAACCCATCCCCCAC TGAATCCATCCCCCACTGAGCTCCATCCCCCACTGAACCCATTCCCCCAC TGAGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	426	0.0024	554	c.273 others(569): Show c.273-440_273-439insACTCAGTGGGGGAATGGGTTCAGTGGGGGA TGGAGCTCAGTGGGGGATGGATTCAGTGGGGGATGGGTTCAGTGGGGGAT GGGTTCAGTGGGGGATGGAGCTCAGTGGGGGATGGATTCAGTGGAGGATG GGTTCAGTGAGGGATGGGTTCAGTGGGGGATGGAGCTCAGTGGGGGATGG ATTCAGTGGGGGATGGGTTCAGTGGGGGATGGAGCTCAGTGGGGGATGGA TTCAGTGGGGGATGGGTTCAGTGGGGGATGGGTTCAGTGGGGGATGGAGC TCAGTGGGGGATGGATTCAGTGGAGGATGGGTTCAGTGAGGGATGGGTTC AGTGGGGGATGGGTTCAGTGGGGGATGGGTTCAGTGGGGGATGGGTTCAG TGGGGTTGGACTCAGTGGGAGATGGACTCAGTGGGGATGGGTTCAGTGGA GGATGGAGCTCAGTGGGGGATGGGTTTAGTGGGGGATGGAGCTTGGTGGC GGACGGAGCTTGGTGGGGGATGGAGCTTGTTGGGAGATGGGTTTAGTGGG GGATGGAGCTTAGTGGGGGATGGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding	3/3			chr1	TogoVar
PNPLA7_chr9_137454952_137555402	137518436	C C	CTCCACTC others(547): Show CTCCACTCTGTCCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACT CCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCCGTCACTC ACTCCACTCTGTCCACTCCATCCCCACTCACTCACTCCACTCTGCTCACT CCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACT CACTCGACTCTGTCCACTCCATCCCCCACTCACTCACTCCACTCTGTCCA CTCCATCCCCCGTCACTCACTCCACTCTGTCCACTCCATCCCTCACTCAC TCACTCCACTCTGTCCACTCCATCCCCCACTCACGCACTCACTCCACTCT GTCCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCC ACTCACTCACTCCACTCTGTCCACTCCATCCCTCATTCACTCACTCCACT CTGCTCACTCCATCCCCCACTCACTGACTCCACTCTGTCCACTCCATCCC CCACTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTCATTCCA CTCTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0170 a0001c0028t0001g0170	1	188	0.0053	554	c.108 others(573): Show c.1084+1480_1084+1481insCAGAGTGGAATGAGTGAGTGGGGGAT GGAGTGAGCAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGGACAGAGTGG AGTCAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGAATGAGGG ATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGAGCAGAGT GGAGTGAGTGAGTGGGGGATGGAGTGGACAGAGTGGAGTGAGTGCGTGAG TGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGAGGGATGGAGTGGA CAGAGTGGAGTGAGTGACGGGGGATGGAGTGGACAGAGTGGAGTGAGTGA GTGGGGGATGGAGTGGACAGAGTCGAGTGAGTGAGTGGGGGATGGAGTGA GCAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGT GAGTGGGGATGGAGTGGACAGAGTGGAGTGAGTGACGGGGGATGGAGTGA GCAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGT GAGTGGGGGATGGAGTGGACAGAGTGGA	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PPP3CA_chr4_101018418_101352526	101164091	T T	TCACACCT others(547): Show TCACACCTCAGCCTCCTGACCAGCTGGGATTACAGACATTCACCACAGAG CCTGGCTAATTTTTTTGTAGAGACAGGGTCTTACTTTGTTGCCCAGGCTG GTCTCAAACTCCTAGCTTCAAGCGATCTGCCTGCCCTAGCCTCTCAAAGT GCTGGGATTACAAGTGTGAGCTACTGTGCCTGGCCACATGACAGAGTTCT AGTATCTGTAATTTCACATCCAGGCCTTCATTCTCTCCACCTATAAACGT CCACTGGAACACAATTGGAAGAAAATATTGGTAAAAATGTTGTTCCTTTC ATGAGCAGCATAAGCAGTATGTTATATAATTTAATCTAATTCAGCGTTAA TAAATACTCAAGTTTAAATTTTACCAAAACAAACCCATTAATTACAAATG AAGTAACCCAAGGTTTATAGGATGACAGACTCTTAGCAATACTATGAAAG AAACCACAATAAGGTATACTGCCTTCAGCCTGCTCACTCTGAGTCACACT TGCCTCCTTGATGTTGTAATATTTCTTTCTGGGAGCCAAGCTCCAGCTGT TCACA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG03130.hp2 HG02630.hp1 HG02647.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0064 a0001c0001t0065 a0001c0001t0025 a0001c0001t0064 a0001c0001t0065	a0001c0001t0025g0168 a0001c0001t0064g0167 a0001c0001t0065g0169 a0001c0001t0025g0168 a0001c0001t0064g0167 a0001c0001t0065g0169	3	192	0.0156	554	c.259 others(573): Show c.259+31824_259+31825insTGTGAACAGCTGGAGCTTGGCTCCCA GAAAGAAATATTACAACATCAAGGAGGCAAGTGTGACTCAGAGTGAGCAG GCTGAAGGCAGTATACCTTATTGTGGTTTCTTTCATAGTATTGCTAAGAG TCTGTCATCCTATAAACCTTGGGTTACTTCATTTGTAATTAATGGGTTTG TTTTGGTAAAATTTAAACTTGAGTATTTATTAACGCTGAATTAGATTAAA TTATATAACATACTGCTTATGCTGCTCATGAAAGGAACAACATTTTTACC AATATTTTCTTCCAATTGTGTTCCAGTGGACGTTTATAGGTGGAGAGAAT GAAGGCCTGGATGTGAAATTACAGATACTAGAACTCTGTCATGTGGCCAG GCACAGTAGCTCACACTTGTAATCCCAGCACTTTGAGAGGCTAGGGCAGG CAGATCGCTTGAAGCTAGGAGTTTGAGACCAGCCTGGGCAACAAAGTAAG ACCCTGTCTCTACAAAAAAATTAGCCAGGCTCTGTGGTGAATGTCTGTAA TCCCAGCTGGTCAGGAGGCTGAGGTGTG	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	2/13			chr4	TogoVar
PPP3CA_chr4_101018418_101352526	101164091	T T	TCGCACCT others(547): Show TCGCACCTCAGCCTCCTGACCAGCTGGGATTACAGACATTCACCACAGAG CCTGGCTAATTTTTTTGTAGAGACAGGGTCTTACTTTGTTGCCCAGGCTG GTCTCAAACTCCTAGCTTCAAGCGATCTGCCTGCCCTAGCCTCTCAAAGT GCTGGGATTACAAGTGTGAGCTACTGTGCCTGGCCACATGACAGAGTTCT AGTATCTGTAATTTCACATCCAGGCCTTCATTCTCTCCACCTATAAACGT CCACTGGAACACAATTGGAAGAAAATATTGGTAAAAACGTTGTTCCTTTC ATGAGCAGCATAAGCAGTATGTTATATAATTTAATCTAATTCAGCGTTAA TAAATACTCAAGTTTAAATTTTACCAAAACAAACCCATTAATTACAAATG AAGTAACCCAAGGTTTATAGGATGACAGACTCTTAGCAATACTATGAAAG AAACCACAATAAGGTATACTGCCTTCAGCCTGCTCACTCTGAGTCACACT TGCCTCCTTGATGTTGTAATATTTCTTTCTGGGAGCCAAGCTCCAGCTGT TCACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00735.hp2 others(39): Show HG00140.hp1 HG00323.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp2 HG01891.hp2 HG02109.hp2 HG02129.hp1 HG02165.hp2 HG02300.hp1 HG02451.hp2 HG02735.hp2 HG02738.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03209.hp2 HG03225.hp1 HG03654.hp1 HG03669.hp1 HG04115.hp2 HG04228.hp1 NA18522.hp2 NA18945.hp1 NA18946.hp1 NA18953.hp2 NA18954.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18995.hp2 NA19001.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0027 a0001c0001t0036 a0001c0001t0058 a0001c0001t0061 a0001c0001t0062 a0001c0001t0067 a0001c0001t0070 a0001c0001t0071 a0001c0002t0024 a0001c0002t0056 a0001c0002t0074 a0001c0006t0004 a0002c0005t0005	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0136 others(39): Show a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0136 a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0054 a0001c0001t0003g0040 a0001c0001t0004g0146 a0001c0001t0004g0158 a0001c0001t0004g0184 a0001c0001t0005g0137 a0001c0001t0005g0142 a0001c0001t0005g0153 a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0001t0006g0028 a0001c0001t0006g0030 a0001c0001t0008g0139 a0001c0001t0008g0154 a0001c0001t0008g0174 a0001c0001t0014g0178 a0001c0001t0027g0002 a0001c0001t0036g0029 a0001c0001t0058g0155 a0001c0001t0061g0157 a0001c0001t0062g0132 a0001c0001t0067g0179 a0001c0001t0070g0143 a0001c0001t0071g0123 a0001c0002t0024g0133 a0001c0002t0024g0135 a0001c0002t0056g0092 a0001c0002t0074g0192 a0001c0006t0004g0183 a0002c0005t0005g0152	42	192	0.2188	554	c.259 others(573): Show c.259+31824_259+31825insTGTGAACAGCTGGAGCTTGGCTCCCA GAAAGAAATATTACAACATCAAGGAGGCAAGTGTGACTCAGAGTGAGCAG GCTGAAGGCAGTATACCTTATTGTGGTTTCTTTCATAGTATTGCTAAGAG TCTGTCATCCTATAAACCTTGGGTTACTTCATTTGTAATTAATGGGTTTG TTTTGGTAAAATTTAAACTTGAGTATTTATTAACGCTGAATTAGATTAAA TTATATAACATACTGCTTATGCTGCTCATGAAAGGAACAACGTTTTTACC AATATTTTCTTCCAATTGTGTTCCAGTGGACGTTTATAGGTGGAGAGAAT GAAGGCCTGGATGTGAAATTACAGATACTAGAACTCTGTCATGTGGCCAG GCACAGTAGCTCACACTTGTAATCCCAGCACTTTGAGAGGCTAGGGCAGG CAGATCGCTTGAAGCTAGGAGTTTGAGACCAGCCTGGGCAACAAAGTAAG ACCCTGTCTCTACAAAAAAATTAGCCAGGCTCTGTGGTGAATGTCTGTAA TCCCAGCTGGTCAGGAGGCTGAGGTGCG	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	2/13			chr4	TogoVar
PPP3CA_chr4_101018418_101352526	101164091	T T	TCGCACCT others(547): Show TCGCACCTCAGCCTCCTGACCAGCTGGGATTACAGACATTCACCACAGAG CCTGGCTAATTTTTTTGTAGAGACAGGGTCTTACTTTGTTGCCCAGGCTG GTCTCAAACTCCTAGCTTCAAGCGATCTGCCTGCCCTAGCCTCTCAAAGT GCTGGGATTACAAGTGTGAGCTACTGTGCCTGGCCACATGACAGAGTTCT AGTATCTGTAATTTCACATCCAGGCCTTCATTCTCTCCACCTATAAACGT CCACTGGAACACAATTGGAAGAAAATATTGGTAAAAATGTTGTTCCTTTC ATGAGCAGCATAAGCAGTATGTTATATAATTTAATCTAATTCAGCGTTAA TAAATACTCAAGTTTAAATTTTACCAAAACAAACCCATTAATTACAAATG AAGTAACCCAAGGTTTATAGGATGACAGACTCTTAGCAATACTATGAAAG AAACCACAATAAGGTATACTGCCTTCAGCCTGCTCACTCTGAGTCACACT TGCCTCCTTGATGTTGTAATATTTCTTTCTGGGAGCCAAGCTCCAGCTGT TCACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00558.hp2 others(103): Show HG00140.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01123.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02135.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp2 NA18948.hp2 NA18953.hp1 NA18954.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18971.hp2 NA18977.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA19001.hp1 NA19007.hp1 NA19007.hp2 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19077.hp2 NA19090.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0050 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0059 a0001c0001t0063 a0001c0001t0066 a0001c0001t0069 a0001c0001t0073 a0001c0002t0001 a0001c0002t0007 a0001c0002t0012 a0001c0002t0013 a0001c0002t0016 a0001c0002t0019 a0001c0002t0021 a0001c0002t0025 a0001c0002t0052 a0001c0003t0006 a0001c0003t0037 a0001c0003t0040 a0001c0003t0046 a0001c0004t0011	a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0141 others(103): Show a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0165 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0036 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0083 a0001c0001t0003g0047 a0001c0001t0003g0053 a0001c0001t0003g0074 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0004g0140 a0001c0001t0004g0150 a0001c0001t0004g0160 a0001c0001t0004g0189 a0001c0001t0007g0103 a0001c0001t0009g0012 a0001c0001t0009g0013 a0001c0001t0009g0014 a0001c0001t0010g0046 a0001c0001t0010g0058 a0001c0001t0010g0070 a0001c0001t0011g0099 a0001c0001t0011g0100 a0001c0001t0012g0110 a0001c0001t0012g0111 a0001c0001t0012g0113 a0001c0001t0013g0170 a0001c0001t0013g0177 a0001c0001t0014g0171 a0001c0001t0016g0061 a0001c0001t0018g0051 a0001c0001t0018g0052 a0001c0001t0020g0105 a0001c0001t0020g0107 a0001c0001t0021g0101 a0001c0001t0022g0104 a0001c0001t0023g0106 a0001c0001t0023g0112 a0001c0001t0026g0166 a0001c0001t0028g0001 a0001c0001t0029g0004 a0001c0001t0032g0008 a0001c0001t0033g0009 a0001c0001t0034g0010 a0001c0001t0038g0034 a0001c0001t0041g0049 a0001c0001t0042g0045 a0001c0001t0043g0019 a0001c0001t0044g0025 a0001c0001t0045g0064 a0001c0001t0050g0022 a0001c0001t0053g0098 a0001c0001t0054g0109 a0001c0001t0055g0089 a0001c0001t0057g0095 a0001c0001t0059g0164 a0001c0001t0063g0185 a0001c0001t0066g0121 a0001c0001t0069g0159 a0001c0001t0073g0191 a0001c0002t0001g0115 a0001c0002t0007g0087 a0001c0002t0007g0088 a0001c0002t0007g0093 a0001c0002t0007g0094 a0001c0002t0012g0084 a0001c0002t0013g0117 a0001c0002t0016g0017 a0001c0002t0019g0096 a0001c0002t0019g0097 a0001c0002t0021g0085 a0001c0002t0025g0116 a0001c0002t0052g0090 a0001c0003t0006g0016 a0001c0003t0006g0018 a0001c0003t0037g0021 a0001c0003t0040g0020 a0001c0003t0046g0015 a0001c0004t0011g0102 a0001c0004t0011g0108	106	192	0.5521	554	c.259 others(573): Show c.259+31824_259+31825insTGTGAACAGCTGGAGCTTGGCTCCCA GAAAGAAATATTACAACATCAAGGAGGCAAGTGTGACTCAGAGTGAGCAG GCTGAAGGCAGTATACCTTATTGTGGTTTCTTTCATAGTATTGCTAAGAG TCTGTCATCCTATAAACCTTGGGTTACTTCATTTGTAATTAATGGGTTTG TTTTGGTAAAATTTAAACTTGAGTATTTATTAACGCTGAATTAGATTAAA TTATATAACATACTGCTTATGCTGCTCATGAAAGGAACAACATTTTTACC AATATTTTCTTCCAATTGTGTTCCAGTGGACGTTTATAGGTGGAGAGAAT GAAGGCCTGGATGTGAAATTACAGATACTAGAACTCTGTCATGTGGCCAG GCACAGTAGCTCACACTTGTAATCCCAGCACTTTGAGAGGCTAGGGCAGG CAGATCGCTTGAAGCTAGGAGTTTGAGACCAGCCTGGGCAACAAAGTAAG ACCCTGTCTCTACAAAAAAATTAGCCAGGCTCTGTGGTGAATGTCTGTAA TCCCAGCTGGTCAGGAGGCTGAGGTGCG	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	2/13			chr4	TogoVar
PPP3CA_chr4_101018418_101352526	101164091	T T	TCGCACCT others(547): Show TCGCACCTCAGCCTCCTGACCAGCTGGGATTACAGACATTCACCACAGAG CCTGGCTAATTTTTTTGTAGAGACAGGGTCTTACTTTGTTGCCCAGGCTG GTCTCAAACTCCTAGCTTCAAGCGATCTGCCTGCCCTAGCCTCTCAAAGT GCTGGGATTACAAGTGTGAGCTACTGTGCCTGGCCACATGACAGAGTTCT AGTATCTGTAATTTCACATCCAGGCCTTCATTCTCTCCACCTATAAACGT CCACTGGAACACAATTGGAAGAAAATATTGGTAAAAATGTTGTTCCTTTC ATGAGCAGCATAAGCAGTATGTTATATAATTTCATCTAATTCAGCGTTAA TAAATACTCAAGTTTAAATTTTACCAAAACAAACCCATTAATTACAAATG AAGTAACCCAAGGTTTATAGGATGACAGACTCTTAGCAATACTATGAAAG AAACCACAATAAGGTATACTGCCTTCAGCCTGCTCACTCTGAGTCACACT TGCCTCCTTGATGTTGTAATATTTCTTTCTGGGAGCCAAGCTCCAGCTGT TCACA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0086 a0001c0001t0051g0086	1	192	0.0052	554	c.259 others(573): Show c.259+31824_259+31825insTGTGAACAGCTGGAGCTTGGCTCCCA GAAAGAAATATTACAACATCAAGGAGGCAAGTGTGACTCAGAGTGAGCAG GCTGAAGGCAGTATACCTTATTGTGGTTTCTTTCATAGTATTGCTAAGAG TCTGTCATCCTATAAACCTTGGGTTACTTCATTTGTAATTAATGGGTTTG TTTTGGTAAAATTTAAACTTGAGTATTTATTAACGCTGAATTAGATGAAA TTATATAACATACTGCTTATGCTGCTCATGAAAGGAACAACATTTTTACC AATATTTTCTTCCAATTGTGTTCCAGTGGACGTTTATAGGTGGAGAGAAT GAAGGCCTGGATGTGAAATTACAGATACTAGAACTCTGTCATGTGGCCAG GCACAGTAGCTCACACTTGTAATCCCAGCACTTTGAGAGGCTAGGGCAGG CAGATCGCTTGAAGCTAGGAGTTTGAGACCAGCCTGGGCAACAAAGTAAG ACCCTGTCTCTACAAAAAAATTAGCCAGGCTCTGTGGTGAATGTCTGTAA TCCCAGCTGGTCAGGAGGCTGAGGTGCG	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	2/13			chr4	TogoVar
PPP3CA_chr4_101018418_101352526	101164091	T T	TCGCACCT others(547): Show TCGCACCTCAGCCTCCTGACCAGCTGGGATTACAGACATTCACCACAGAG CCTGGCTAATTTTTTTGTAGAGACAGGGTCTTACTTTGTTGCCCAGGCTG GTCTCAAACTCCTAGCTTCAAGCGATCTGCCTGCCCTAGCCTCTCAAAGT GCTGGGATTACAAGTGTGAGCTACTGTGCCTGGCCACATGACAGAGTTCT AGTATCTGTAATTTCACATCCAGGCCTTCATTCTCTCTACCTATAAACGT CCACTGGAACACAATTGGAAGAAAATATTGGTAAAAACGTTGTTCCTTTC ATGAGCAGCATAAGCAGTATGTTATATAATTTAATCTAATTCAGCGTTAA TAAATACTCAAGTTTAAATTTTACCAAAACAAACCCATTAATTACAAATG AAGTAACCCAAGGTTTATAGGATGACAGACTCTTAGCAATACTATGAAAG AAACCACAATAAGGTATACTGCCTTCAGCCTGCTCACTCTGAGTCACACT TGCCTCCTTGATGTTGTAATATTTCTTTCTGGGAGCCAAGCTCCAGCTGT TCACA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	192	0.0052	554	c.259 others(573): Show c.259+31824_259+31825insTGTGAACAGCTGGAGCTTGGCTCCCA GAAAGAAATATTACAACATCAAGGAGGCAAGTGTGACTCAGAGTGAGCAG GCTGAAGGCAGTATACCTTATTGTGGTTTCTTTCATAGTATTGCTAAGAG TCTGTCATCCTATAAACCTTGGGTTACTTCATTTGTAATTAATGGGTTTG TTTTGGTAAAATTTAAACTTGAGTATTTATTAACGCTGAATTAGATTAAA TTATATAACATACTGCTTATGCTGCTCATGAAAGGAACAACGTTTTTACC AATATTTTCTTCCAATTGTGTTCCAGTGGACGTTTATAGGTAGAGAGAAT GAAGGCCTGGATGTGAAATTACAGATACTAGAACTCTGTCATGTGGCCAG GCACAGTAGCTCACACTTGTAATCCCAGCACTTTGAGAGGCTAGGGCAGG CAGATCGCTTGAAGCTAGGAGTTTGAGACCAGCCTGGGCAACAAAGTAAG ACCCTGTCTCTACAAAAAAATTAGCCAGGCTCTGTGGTGAATGTCTGTAA TCCCAGCTGGTCAGGAGGCTGAGGTGCG	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	2/13			chr4	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)