Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(549): Show TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCT CCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGT GGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTC CTCTCTC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0008 a0001c0042t0008	a0001c0042t0008g0112 a0001c0042t0008g0112	1	408	0.0025	556	c.633 others(573): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTCCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTTTTT others(549): Show TTTTTTTTATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0239 a0002c0002t0002g0239	1	394	0.0025	556	c.41- others(571): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAATAAAAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
IFNAR1_chr21_33319970_33364864	33323518	A A	ATATATGG others(549): Show ATATATGGAATATATATATATGGAATATATATATGGAATATATATATATG GAATATATATATGGAATATATATATATGGAATATATATATGGAATATATA TATATGGAATATATATATGGAATATATATATGGAATATATATGTGGAATA TATATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGG AATATATATATATGGAATATATATGTGGAATATATATATATGGAATATAT ATGTGGAATATATATATATGGAATATATATGTGGAATATATATATATGGA ATATATATGTGGAATATATATATGGAATATATATGTGGAATATATATATA TGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATA TATATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGG AATATATATATATGGAATATATATGTGGAATATATATATATGGAATATAT ATGTGGAATATATATATATGGAATATATATGTGGAATATATATATATGGA ATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0105 a0001c0001t0010g0105	1	323	0.0031	556	c.-15 others(567): Show c.-1538_-1537insTATATGGAATATATATATATGGAATATATATATG GAATATATATATATGGAATATATATATGGAATATATATATATGGAATATA TATATGGAATATATATATATGGAATATATATATGGAATATATATATGGAA TATATATGTGGAATATATATATGGAATATATATGTGGAATATATATATAT GGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATAT ATATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGGA ATATATATATATGGAATATATATGTGGAATATATATATGGAATATATATG TGGAATATATATATATGGAATATATATGTGGAATATATATATATGGAATA TATATGTGGAATATATATATATGGAATATATATGTGGAATATATATATAT GGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATAT ATATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGGA ATATATATATATGGAATATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1451		chr21	TogoVar
IRAG2_chr12_25047706_25113335	25077361	G G	GATATATA others(549): Show GATATATATATGATATATATGAAATATATATATGATATATATGTGAAATA TATATATGATATATATGTGAAATATATATATGATATATATGTGAAATATA TATATGATATATATGTGAAATATATATATGATATATATGTGAAATATATA TATGATATATATGTGAAATATATATATGATATATATGTGAAATATATATA TGATATATATGTGAAATATATATATGATATATATGTGAAATATATATATG ATATATATGTGAAATATATATATGATATATATGTGAAATATATATATGAT ATATATGTGAAATATATATATGATATATATGTGAAATATATATATGATAT ATATGTGAAATATATATATGATATATATGTGAAATATATATATGATATAT ATGTGAAATATATATATGATATATATGTGAAATATATATATGATATATAT GTGAAATATATATGATATATATGTGAAATATATATGATATATATGTGAAA TATATATGATATATATGATATATATGATATATATATGATATATATGATAT ATATATC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0160 a0002c0002t0001g0160	1	344	0.0029	556	c.25- others(571): Show c.25-1875_25-1874insATGATATATATGAAATATATATATGATATA TATGTGAAATATATATATGATATATATGTGAAATATATATATGATATATA TGTGAAATATATATATGATATATATGTGAAATATATATATGATATATATG TGAAATATATATATGATATATATGTGAAATATATATATGATATATATGTG AAATATATATATGATATATATGTGAAATATATATATGATATATATGTGAA ATATATATATGATATATATGTGAAATATATATATGATATATATGTGAAAT ATATATATGATATATATGTGAAATATATATATGATATATATGTGAAATAT ATATATGATATATATGTGAAATATATATATGATATATATGTGAAATATAT ATATGATATATATGTGAAATATATATATGATATATATGTGAAATATATAT ATGATATATATGTGAAATATATATGATATATATGTGAAATATATATGATA TATATGTGAAATATATATGATATATATGATATATATGATATATATATGAT ATATATGATATATATATCATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
LGR6_chr1_202188799_202324761	202205410	C C	CCAGCACA others(549): Show CCAGCACACACACCTAACACACACCTCCTTCAAACACACACCTCCACACA CACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACACA CACCTAACACACACCTCCTTCAAACACACACACACCTAACACACACCTCC TTCAAACACACACCCTCCAAACACACACACCTCCTTCAAGCACACACACA CCTCCAAACACACACACACCTAACACACACCTCCAAGCACACACACACCT CCAAACACACACACACCCAACACACGCCTCCTTCAAACACACACATCTCC AAACACACACACACAGCTAACACACACCTTCTTCAAACACACACACCCCT CCAAACACACACACACACCTCCTTCAAACACACACACCCTCCAAACACAC ACACCTCCTTCAAACACACACACACCTCCAAAGACACACACACACCTAAC ACACACCTCCAGGCACACACACACACCTCCAAACACACACACACCTAACA CACACCTCCTCCAAACACACACACACCTCCACACACATACCTAACACACA CCTCCTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0017 a0004c0003t0003g0017	1	262	0.0038	556	c.212 others(575): Show c.212+11211_212+11212insGCACACACACCTAACACACACCTCCT TCAAACACACACCTCCACACACACACACCTAACACACACCTCCTTCAAAC ACACACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACACAC ACACACCTAACACACACCTCCTTCAAACACACACCCTCCAAACACACACA CCTCCTTCAAGCACACACACACCTCCAAACACACACACACCTAACACACA CCTCCAAGCACACACACACCTCCAAACACACACACACCCAACACACGCCT CCTTCAAACACACACATCTCCAAACACACACACACAGCTAACACACACCT TCTTCAAACACACACACCCCTCCAAACACACACACACACCTCCTTCAAAC ACACACACCCTCCAAACACACACACCTCCTTCAAACACACACACACCTCC AAAGACACACACACACCTAACACACACCTCCAGGCACACACACACACCTC CAAACACACACACACCTAACACACACCTCCTCCAAACACACACACACCTC CACACACATACCTAACACACACCTCCTTCA	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHPP_chr10_124456823_124619141	124471472	T T	TATTTTAT others(549): Show TATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATTTA TATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTTA TATATATTTATATGTATTTATATATATATTTATATGTATTTATATATTTA TATATTTATATGTATTTATACATATATATTTATATGTATTTATATATATT TATATATATTTTTTATGTATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	260	0.0039	556	c.125 others(573): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATTTATATATTTATGTATATATTTATATATATTT ATATATTTATGTATAAATTTATATATATTTATATGTATTTATATATATAT TTATATGTATTTATATATTTATATATTTATATGTATTTATACATATATAT TTATATGTATTTATATATATTTATATATATTTTTTATGTATTTATATATA TTTATATATATATTTATATATATTTATATATATATTTATATATATTTATA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATTTATA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LINGO2_chr9_27932617_29218601	28189681	A A	AAGGAAGG others(549): Show AAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGGAGGAA GGAAGGAAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGG GAGGAAGAAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAA GGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGG AAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAA GGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGG GAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGA GGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGAAAGGAAGGAAGGAAGG GAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGA GGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGG GAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAA GGGAGGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	62	0.0161	556	c.-36 others(577): Show c.-36+105526_-36+105527insCCCTCCCTTCCTCCCTTCCTTCCT TCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTC CTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCT CCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTTT CTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCT TCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCT CCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTC CTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCT TCCTTCCTCCCTTCCTTCCTTCCTTTCTTCCTCCCTTCCTTCCTCCCTTC CTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCT TCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28189681	A A	AAGGAAGG others(549): Show AAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGGAGGAA GGAAGGAAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGG GAGGAAGAAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAA GGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGG AAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGAA GGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGG GAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGA GGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGAAAGGAAGGAAGGAAGG GAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGA GGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGG GAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAA GGGAGGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	62	0.0161	556	c.-36 others(577): Show c.-36+105526_-36+105527insCCCTCCCTTCCTCCCTTCCTTCCT TCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTC CTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCT CCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTTT CTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCT TCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCT TCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTC CTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCT TCCTTCCTCCCTTCCTTCCTTCCTTTCTTCCTCCCTTCCTTCCTCCCTTC CTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCT TCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LMF1_chr16_848634_975984	859664	C C	CGGGTGTG others(549): Show CGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGG TGTGCAGTGGTGTCACGGGACGGGTGTGAGTGATGTCTCGGGACGGGTGT GAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGCGAGTGGT GTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCA CGGGACGGGTGCGAGTGGTGTCACGGGAGGGGTGCGAGTGGTGTCTCGGG ACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGG GTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGT GCGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCACGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGCAGTGGTGTC TCGGGAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0096 a0002c0017t0001g0096	1	294	0.0034	556	c.153 others(575): Show c.1530-4959_1530-4958insATCCCGAGACACCACTGCACACCCAC CCCGAGACACCACTCACACCCACCCCGTGACACCACTCACACCCGTCCCG AGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACC ACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCGAGACACCACTC GCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCAC CCCTCCCGTGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGT CCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCG TGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGA CACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACATC ACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACT CACACCCGTCCCGAGACACCACTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRP8_chr1_53237364_53333070	53284196	T T	TACTTACC others(549): Show TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCC GGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA19004.hp2 NA18612.hp2 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0018 a0001c0001 a0002c0018	a0001c0001t0001 a0002c0018t0001 a0001c0001t0001 a0002c0018t0001	a0001c0001t0001g0155 a0002c0018t0001g0128 a0001c0001t0001g0155 a0002c0018t0001g0128	2	296	0.0068	556	c.368 others(573): Show c.368-3482_368-3481insGGCCCGGGTATGTAGTAGGTAAGTAAGC GGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAA GTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGT AGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTA TGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCC CGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAA GCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGT AAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTA GTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGG TATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGG CCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGT AAGCGGCCCGGGTATGTAGTAGGTAAGT	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRK2_chr12_40219997_40374285	40247728	A A	ATATTTAT others(549): Show ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATG	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA19082.hp2 NA18972.hp2 NA19082.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0348 a0004c0006t0001g0355 a0004c0006t0001g0348 a0004c0006t0001g0355	2	382	0.0052	556	c.839 others(573): Show c.839-2098_839-2097insTATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATG	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50			chr12	TogoVar
LUC7L_chr16_183990_234449	187172	G G	GGGGAACA others(549): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGAGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGGAACAGCGTCACGGGAGGAACAGCGACACGGGGGAGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGG AACAGCGTCACGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAA CAGCGTCACGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACG GGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCG ACACGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	350	0.0029	556	c.20 others(567): Show c.2025_*2026insTCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCT CCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTG TTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTG TCGCTGTTCCTCCCGTGACGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCC GTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCT CCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTT CCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCTCCCGTGACGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCT CCCGTGACGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTT CCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1817		chr16	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(549): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTCTATATTAAATATAATTATATAATATATAATTATATTCTATATAGAA TATAATTATATAATATATAATTATATTCTATATTATATAATTATAATATA ATTATATAATATAATTATATTGTATATAATTATATTAAATATATTATATA ATATATAATTATATTATATATTATATAATATATAATTATATTATATATTA TATAATATATAATTATATTATATATTATATAATATATAATTATATTATAT ATTATATAATATATAATTATATTATATATTATAATACATTTAATATAATT ATATTATAGATTATAATCTATAATATAATTATATTAATAGTATTATAATA TATAATATATTATATATAATTATATTATAACATATTATATATAATTATAT TATAGATCATAATCTATAATATAATTATATATAATATGTTATAATATATA ATTATATTCTATATATAATTATATATAATATAATTATATTCTATATATAA TATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 NA20905.hp1 HG00280.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	2	288	0.0069	556	c.-32 others(567): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATATGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATATATTATATAATATATAATATAATTATATATTATA TAATATATAATATAATTATATATTATATAATATATTTAATATAATTATAT ACAATATAATTATATTATATAATTATATTATAATTATATAATATAGAATA TAATTATATATTATATAATTATATTCTATATAGAATATAATTATATATTA TATAATTATATTTAATATAGAATATAATTATATATTATATAATTATATTC TATATAGAATATAATTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(549): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGA TTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGGTGGGGAGGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGGTTTGGTGGGGGAGTGTGGTTGGGGGGGAGTG TGGTTGGGGGAGTGTGGTTGATGGGGGAGTGTGGTTGAGGGGAGTGTGGT TGAGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGAGTGTGGT TGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTGG TTGATGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGATG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0246 a0001c0001t0004g0246	1	360	0.0028	556	c.57+ others(573): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGG GGAGTGTGGTTGGTGGGGAGGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGGTGGGGGAGTGTGGTTTGGTGGGGGAGTGTGGTTGGGGG GGAGTGTGGTTGGGGGAGTGTGGTTGATGGGGGAGTGTGGTTGAGGGGAG TGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGAG TGTGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGA GTGTGGTTGATGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGATGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(549): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC GGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCG GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCG TGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CACGTCC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	256	0.0039	556	c.241 others(575): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCC	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(549): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCG GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCAGGAGGGAGGTGGGGGGTGGGTCAGCCCCCCCGCCCGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCG TGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CACGTCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	256	0.0039	556	c.241 others(575): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCACCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCC	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(549): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGG CCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCG TGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CACGTCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0066 a0001c0003t0007g0066	1	256	0.0039	556	c.241 others(575): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCC	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(549): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCG GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCG TGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CACGTCC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	256	0.0039	556	c.241 others(575): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCC	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(549): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCG GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCG TGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CACGTCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0161 a0001c0002t0004g0161	1	256	0.0039	556	c.241 others(575): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCC	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(549): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCG GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCG TGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CACGTCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0136 a0001c0006t0001g0136	1	256	0.0039	556	c.241 others(575): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCC	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(549): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGGTCG GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCG TGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CACGTCC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	256	0.0039	556	c.241 others(575): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCACACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCC	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(549): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGG CCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCG TGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGC CACGTCC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	256	0.0039	556	c.241 others(575): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCTGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCC	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(549): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGG CCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCG TGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CACGTCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp2 HG01175.hp2 others(20): Show HG00140.hp1 HG00741.hp2 HG01175.hp2 HG01255.hp2 HG01952.hp2 HG01981.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02809.hp1 HG02809.hp2 HG03130.hp2 HG03540.hp1 HG03579.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18981.hp2 NA18990.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0012 a0001c0014 a0001c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0006 a0001c0004t0001 a0001c0010t0001 a0001c0012t0001 a0001c0014t0001 a0001c0021t0002	a0001c0001t0001g0064 a0001c0001t0001g0193 a0001c0001t0001g0220 others(20): Show a0001c0001t0001g0064 a0001c0001t0001g0193 a0001c0001t0001g0220 a0001c0001t0002g0120 a0001c0001t0002g0174 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0003g0206 a0001c0002t0001g0007 a0001c0002t0001g0072 a0001c0002t0001g0090 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0004g0162 a0001c0003t0001g0010 a0001c0003t0001g0012 a0001c0003t0001g0187 a0001c0003t0006g0221 a0001c0004t0001g0227 a0001c0010t0001g0139 a0001c0012t0001g0004 a0001c0014t0001g0077 a0001c0021t0002g0235	23	256	0.0898	556	c.241 others(575): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCC	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(549): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGG CCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCG CCCCATCCGGGAGGGAGGTGGGGGGGGTCAGTCCCCCGCCTGGCCAGCCG TGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CACGTCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0243 a0001c0014t0001g0243	1	256	0.0039	556	c.241 others(575): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGG GCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCC	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(549): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGG CCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGATGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCG TGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CACGTCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0006 a0001c0002t0009g0006	1	256	0.0039	556	c.241 others(575): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537634	G G	GTGAGGGG others(549): Show GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGGCCCCC CTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC AGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCA TCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGTGCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCACGTC CGGGAGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0196	1	256	0.0039	556	c.241 others(575): Show c.241+14471_241+14472insTCTCCCGGACGTGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGC GGGGGACTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCA	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(549): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATAAATATATAAAAATTTATATT TATATATCATAAATATATAAAAATTTATATTTATATATCATAAATAAAAA TTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATAT ATCATATATAAAAATTTATATATATCATATATAAAAATTTATATATATCA TATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTT ATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	350	0.0029	556	c.-28 others(567): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATAT ATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATA TATCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATATATCATATATAAAAATTTATATATATCATATATAAA AATTTATATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(549): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATAAATATATAAAAATTTATATT TATATATCATAAATATATAAAAATTTATATTTATATATCATAAATAAAAA TTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTT ATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATATATCATATATAAAAATTTATATATATCATATATAAAAATTTATATAT ATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTT ATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0054 a0001c0002t0002g0054	1	350	0.0029	556	c.-28 others(567): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATAT ATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATA TATCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATATATCATATATAAAAATTTATATATATCATATA TAAAAATTTATATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NCAPG2_chr7_158626169_158709804	158668331	C C	CCCTTACC others(549): Show CCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCC CTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTA CTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCTGCCCTCCT TACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCCCTCC GCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTG GGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCTGCCCTCCTTAC CTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCCCTCCGCC CTCCCTTACCCACTACTGGGTCCCTCTGCCCTCCTTACCCACAACTGGGT CCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTAC CTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCC CTTACCCACTACTGGGTCCCTCTGCCCTCCTTACCCACAACTGGGTCCCT CCGCCCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	378	0.0027	556	c.147 others(575): Show c.1479+3182_1479+3183insAGGGCGGAGGGACCCAGTTGTGGGTA AGGAGGGCAGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGA GGGCAGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGGAGGGCAGAGGGAC CCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGG CGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGG TAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGGAGGGCAGAGGGACCCA GTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGG AGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAG GAGGGCGGAGGGACCCAGTAGTGGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(549): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACA GGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGA GAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGG AGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGG AGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAG GGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGGGGAGGGAGAGAGA TGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGG AGAGGGACAGGGGGAGGGAGAAGGAGAGGGGGAGGGAGAGGGAGAGAGAG GGAGAGGGAGAGAGAGGGAGAGGGAGTGAGAGAGAGAGGGAGAGAGAGGG AGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(16): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01361.hp2 HG02451.hp2 HG02738.hp2 HG03927.hp1 HG06807.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0003 a0001c0005t0013 others(3): Show a0001c0001t0003 a0001c0005t0003 a0001c0005t0013 a0001c0005t0077 a0001c0005t0084 a0001c0005t0085	a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0262 others(14): Show a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0262 a0001c0005t0003g0045 a0001c0005t0003g0046 a0001c0005t0003g0164 a0001c0005t0003g0165 a0001c0005t0003g0304 a0001c0005t0003g0307 a0001c0005t0013g0011 a0001c0005t0013g0027 a0001c0005t0013g0300 a0001c0005t0013g0314 a0001c0005t0013g0317 a0001c0005t0077g0087 a0001c0005t0084g0313 a0001c0005t0085g0315	19	386	0.0492	556	c.92 others(567): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTCTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTC CTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCA TCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCTCCC TCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCC TCTCCCTCCCTCTCCCTCTCCCTCCCTCTCTCCCTCTCCCTCCCTCTCCC TGTCCCTCTCCCTCCCCCTCCCTCCCCTCCCGCCCCCTCCCTCTCTCTCC CCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCCTCTCCCTCTCT CCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCTCCCTCC CTCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTCCCCCTC CCTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCTCCCTGT CCCCCCTCTCCCCCTCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3705		chr12	TogoVar
NTF3_chr12_5427108_5500299	5481483	G G	GCACATAC others(549): Show GCACATACAAACAGAATAACACCACACACACACCACAGACACAGAAATAA CACCACACACACATGCACATACACACACCACATACACACAGAATAACACC ACACACACATGCACACACACACAGAATAACACCACACACGCACACACACA CCACAGACACAGACATAACACCACACACACATGCACATACACACACCACA TACACACAGAATAACACCACACACACATGCACACACACACAGAATAACAC GATACACACATGCACATACACCACAGACACACACAGAATAGCGCGACACA CGTGCACACATAGACATACACACACCACACACACAGAATAACACCAGAAA CATGCACACACAGACATACACACACCACACACGGAATAACACCACCCACA CATGCGCACACACACAGAATAACACCACACACACGCGCATACACACACGC ATACACACAGATATACACCACACACAGAATAACACCACACACACATGCAC ACATGCATACAGACATACATCACACACACAATAACATAACACACATGCAC ACACAGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0348 a0001c0001t0001g0348	1	370	0.0027	556	c.19- others(573): Show c.19-12707_19-12706insTACAAACAGAATAACACCACACACACAC CACAGACACAGAAATAACACCACACACACATGCACATACACACACCACAT ACACACAGAATAACACCACACACACATGCACACACACACAGAATAACACC ACACACGCACACACACACCACAGACACAGACATAACACCACACACACATG CACATACACACACCACATACACACAGAATAACACCACACACACATGCACA CACACACAGAATAACACGATACACACATGCACATACACCACAGACACACA CAGAATAGCGCGACACACGTGCACACATAGACATACACACACCACACACA CAGAATAACACCAGAAACATGCACACACAGACATACACACACCACACACG GAATAACACCACCCACACATGCGCACACACACAGAATAACACCACACACA CGCGCATACACACACGCATACACACAGATATACACCACACACAGAATAAC ACCACACACACATGCACACATGCATACAGACATACATCACACACACAATA ACATAACACACATGCACACACAGTCACA	NTF3	ENSG00000185652.12	transcript	ENST00000423158.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
OPCML_chr11_132409981_133537501	133082572	T T	TCCTCCTC others(549): Show TCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCC TCCTCATCCTCTCCTCCCCCTCGCACATCCCCCTTCCCCTCCTCCCCTCC TCATTCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCATCCTCTCC TCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCC CCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCC TCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCATCCTCTCCTCCCCCTCG CCCATCCCCCTTCCCCTCCTCTCCTCCTCATCCTCTCCTCCCCCTCGCCC ATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATC CCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCC CTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTT CCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCC CTCCTCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01891.hp1 NA21309.hp1 HG00642.hp2 HG01891.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009	a0001c0001t0004g0027 a0001c0001t0006g0045 a0001c0001t0009g0060 a0001c0001t0004g0027 a0001c0001t0006g0045 a0001c0001t0009g0060	3	68	0.0441	556	c.62- others(575): Show c.62-139563_62-139562insGGAGGAGGGGAAGGGGGATGGGCGAG GGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGG GAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAG GAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAG AGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGG ATGAGGAGGAGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATG AGGAGGAGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGG AGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGG GGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGA AGGGGGATGGGCGAGGGGGAGGAGAGAATGAGGAGGGGAGGAGGGGAAGG GGGATGTGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGG ATGGGCGAGGGGGAGGAGAGGATGAGGAGG	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
PANK4_chr1_2503537_2531596	2522791	C C	CTATAGTG others(549): Show CTATAGTGACTTAACGGAGGGCACTGTGTATGCTATAGTGACTTAACGGA GGGCACCGTGTGTGTTATAGTGACTTAACGGAGAGCACCGTATGGTGCTA TAGTGACTTAACGGAGGGCACTGTGTGTGTTATAGTGACTTAACGGAGGG CACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCTATAG TGACTTAACGGAGGGCACCGTATGGTGCTATAGTGACTTAACGGAGGGGA CCGTGTGGTGCTATAGTGACTTAACGGAGGGCATTGTGTGTGCTATAGTG ACTTAATGGAGGGCACCGTACGGTGCTATAGTGACTTAACGGAGGGCACT GTGTGTGCTAAAGTGACTTAACGGAGGGGACCGTGTGGTGTTATAGTGAC TTAACGGAGGGCACCGGATGGTGCTATAGTGACTTAACGGAAGGGACCGT GTGGTGTTATAGTGACTTAACGGAGGGCACTGGATGGTGCTATAGTGACT TAACGGAGGGGGACCGTGTGGTGTTATAGTGACTTAACGGAGGGCACCGT GTGGTGT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0001 a0006c0015t0001	a0006c0015t0001g0049 a0006c0015t0001g0049	1	399	0.0025	556	c.125 others(571): Show c.125-992_125-991insACACCACACGGTGCCCTCCGTTAAGTCACT ATAACACCACACGGTCCCCCTCCGTTAAGTCACTATAGCACCATCCAGTG CCCTCCGTTAAGTCACTATAACACCACACGGTCCCTTCCGTTAAGTCACT ATAGCACCATCCGGTGCCCTCCGTTAAGTCACTATAACACCACACGGTCC CCTCCGTTAAGTCACTTTAGCACACACAGTGCCCTCCGTTAAGTCACTAT AGCACCGTACGGTGCCCTCCATTAAGTCACTATAGCACACACAATGCCCT CCGTTAAGTCACTATAGCACCACACGGTCCCCTCCGTTAAGTCACTATAG CACCATACGGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCCCTC CGTTAAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAACA CACACAGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCTCTCCGT TAAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAGCATAC ACAGTGCCCTCCGTTAAGTCACTATA	PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding	1/18			chr1	TogoVar
PCED1A_chr20_2830314_2845655	2842829	T T	TATAGATG others(549): Show TATAGATGTATCTATCTATAGATAGACATATAGATGTATCTATCTATAGA TAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATAGATGTATCTATCTATC GATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA TGTATCTATAGATAGATGTATCTATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCGA TAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	436	0.0023	556	c.-26 others(567): Show c.-2641_-2640insCTATCTATCGATACATCTATCTATCTATCGATAG ATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTAT CTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCT ATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTAT AGATACATCTATCTATAGATACATCTATCTATCGATAGATACATCTATCT ATCGATAGATACATCTATCTATCGATAGATAGATACATCTATCTATCTAT CTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCT ATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTAT CGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCG ATAGATACATCTATCTATCTATCGATAGATACATCTATATGTCTATCTAT AGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCT ATCTATAGATAGATACATCTAT	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2175		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(549): Show CTATAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	436	0.0023	556	c.-26 others(567): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PDXK_chr21_43714129_43767299	43741442	G G	GGGGGGGC others(549): Show GGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTG GCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTGGCGGGGGGGCTCGCG GGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGG CTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCG CGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGG GGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCAGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGC GGGGGGCTCGCGGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTCGC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0016 a0001c0001t0043g0016	1	358	0.0028	556	c.143 others(571): Show c.143-197_143-196insGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGC TCGCGGGGGGGCTCGCGGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCG CGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGC GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTG GCGGGGGGCTGGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTC GCGGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PIGN_chr18_62036164_62192056	62040238	A A	ATCCAGAG others(549): Show ATCCAGAGTGCCGCACCCCATGATTAGGGCCCATTCAGGGTGCCGCACCC CATGTTTAGGGCCCATCCAGGGTGCCGCACCCCATGTTTAGGGCCCCATC CAGGGTGCCGCACATCATGTTTAGGGCCCCATCCAGGGTGCCGCACCCCA TGTTTAGGGCCCATCCAGAGTGCCGCACCCCATGTTTAGGGCCCCATCGA CGATGCCGCACCCCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATG TTTAGGGCCCAGCCAGGGTGCCGCAACTCATGTTTAGGGCCCCTTCCAGG GTGCCGCACCCCATGTTTAGGGCCCCATCCAGGGTGCCGCACATCATGTT TAGGGCCCCATCCAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGGG TGCCGCACCCCATGTTTAGGGCCCCATCCAGAGTGCCGCACCCCATGTTT AGGGCCCCATCGACGATGCCGCACCCCATGTTTAGGGCCCCTTCCAGGGT GCCGCACCCCATGTTTAGGGCCCAGCCAGGGTGCCGCAACTCATGTTTAG GGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0065 a0004c0007t0065	a0004c0007t0065g0004 a0004c0007t0065g0004	1	342	0.0029	556	c.56 others(567): Show c.5617_*5618insAGGGGCCCTAAACATGAGTTGCGGCACCCTGGCT GGGCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGGGG TGCGGCATCGTCGATGGGGCCCTAAACATGGGGTGCGGCACTCTGGATGG GGCCCTAAACATGGGGTGCGGCACCCTGGATGGGGCCCTAAACATGGGGT GCGGCACCCTGGATGGGGCCCTAAACATGATGTGCGGCACCCTGGATGGG GCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGAGTTG CGGCACCCTGGCTGGGCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGC CCTAAACATGGGGTGCGGCATCGTCGATGGGGCCCTAAACATGGGGTGCG GCACTCTGGATGGGCCCTAAACATGGGGTGCGGCACCCTGGATGGGGCCC TAAACATGATGTGCGGCACCCTGGATGGGGCCCTAAACATGGGGTGCGGC ACCCTGGATGGGCCCTAAACATGGGGTGCGGCACCCTGAATGGGCCCTAA TCATGGGGTGCGGCACTCTGGA	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding		925		chr18	TogoVar
PIGR_chr1_206923522_206951466	206924233	A A	AGAGTGTG others(549): Show AGAGTGTGTGGCGTGTGCTATGAGTGTGTGTGTGCACTGTGAGTGTGTGT GTGGTGTGTGGCTATGAGTGTGTGTGTGCTCTGTGGAGTGTGTGTGTGGT GTGTGGCTATGAGTGTGTGTGCTCTGTCTAGTGTGTGTGGTGTGTGGTTA TGTGTGTGTGATTGTGTGTGTGATGTGTGTCCATGAGTGTGTGTGTGCTC TGTGGAGTGTATGAATGTGTGGTGTGTGGCTATGAGTGTGTGTGAATGTG TGGTGTGTGGCTATGTGTGTGTGCTATGTGTTGTGTGTGGTATGTAGTTA TGAGTGTGTGTCACTGCGTGGTGTGTGGCTATGAGTGTGTTGTGTGTGCG CACTCTATGCTCTGTCTAGTGTGTGTGTGGTTGAGTGTGTGAGTGTGTGG TGTGTAGTTATGAGTGTGTGTGTTCTCTGTCTAGTGTGTGTGTGGTTATG TGTGTGTGATTGTGTGTGTGGTGTGTGTCCATGAGTGTGTGTGTGCTCTG TAGAGTGTGTAAGTGTGTGGCGTGTGGCTATGAGTGTGTGTGTGCACTGT GGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	556	c.60 others(567): Show c.6084_*6085insACACTCCACAGTGCACACACACACTCATAGCCAC ACGCCACACACTTACACACTCTACAGAGCACACACACACTCATGGACACA CACCACACACACAATCACACACACATAACCACACACACACTAGACAGAGA ACACACACACTCATAACTACACACCACACACTCACACACTCAACCACACA CACACTAGACAGAGCATAGAGTGCGCACACACAACACACTCATAGCCACA CACCACGCAGTGACACACACTCATAACTACATACCACACACAACACATAG CACACACACATAGCCACACACCACACATTCACACACACTCATAGCCACAC ACCACACATTCATACACTCCACAGAGCACACACACACTCATGGACACACA TCACACACACAATCACACACACATAACCACACACCACACACACTAGACAG AGCACACACACTCATAGCCACACACCACACACACACTCCACAGAGCACAC ACACACTCATAGCCACACACCACACACACACTCACAGTGCACACACACAC TCATAGCACACGCCACACACTC	PIGR	ENSG00000162896.6	transcript	ENST00000356495.5	protein_coding		4288		chr1	TogoVar
PNPLA7_chr9_137454952_137555402	137502730	G G	GGGGGGAC others(549): Show GGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGG GGGACGGGGGGGGACGGGGGGGGGGACGCGGGGGACGGGGGGGACGCGGG GGGGGACGCGGGGGGGACGCGGGGGACGGGGGGGGGCGGGGGGGGCGGGG GGGGGCGGGGGGGACGGGGGGGGGCGGGGGACGCGGGGGACGGGGGGGAC GGGGGGGACGCGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGG GGGGACGCGGGGGGGACGGGGGGGACGGGGGGGGGGCGGGGGGGGCGGGG GGGGCGGGGGGGGGACGGGGGGGGACGGGGGGGACGGGGGGGGGCGGGGG GGGCGGGGGGGGGCGGGGGGGACGGGGGGGACGGGGGGGGACGGGGGGGA CGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGACGCGGGGGGGACGCG GGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGA CGGGGGGGACGCGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGGACGGGG GGGACGA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0018 a0004c0007t0002g0018	1	188	0.0053	556	c.147 others(575): Show c.1474-1004_1474-1003insTCGTCCCCCCCGTCCCCCCCGTCCCC CCCGCCCCCCCCGCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGT CCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGCGTCCC CCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCCG TCCCCCCCGTCCCCCCCGCCCCCCCCCGCCCCCCCCGCCCCCCCCCGTCC CCCCCGTCCCCCCCCGTCCCCCCCCCGCCCCCCCCGCCCCCCCCGCCCCC CCCCCGTCCCCCCCGTCCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCC CCGTCCCCCCCGTCCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGCG TCCCCCGCCCCCCCCCGTCCCCCCCGCCCCCCCCCGCCCCCCCCGCCCCC CCCCGTCCCCCGCGTCCCCCCCGCGTCCCCCCCCGCGTCCCCCCCGTCCC CCGCGTCCCCCCCCCCGTCCCCCCCCGTCCCCCCCGCGTCCCCCCCGTCC CCCCCGTCCCCCCCGTCCCCCGCGTCCCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
RPH3AL_chr17_207389_357807	305109	A A	AGGGGGAC others(549): Show AGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAG GGGGACAGGGCGGGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGG GACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGA CAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACA GGGCAAGAGGGGGACAGGGCGGGAGGGGACAGGGCGGGAGGGGGACAGGG CGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCG GGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGG AGGGGGACAGGGCGGGAGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGG GGGACAGGGCGGGAGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGG ACAGGGCGGGAGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACA GGGCGGCAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGG GCGAGAG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	133	0.0075	556	c.351 others(575): Show c.351+14310_351+14311insCTCTCGCCCTGTCCCCCTCCCGCCCT GTCCCCCTCCCGCCCTGTCCCCCTGCCGCCCTGTCCCCCTCTCGCCCTGT CCCCCTCCCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCC CCTCTCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCT CTCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGC CCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCC TGTCCCCTCCCGCCCTGTCCCCCTCTTGCCCTGTCCCCCTCCCGCCCTGT CCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCC CCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTC CCGCCCTGTCCCCCTCCCGCCCTGTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1290018	T T	TCCCCCGT others(549): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGT CCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCCTGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0015 a0015	a0015c0037 a0015c0037	a0015c0037t0001 a0015c0037t0001	a0015c0037t0001g0090 a0015c0037t0001g0090	1	290	0.0035	556	c.166 others(573): Show c.1663-250_1663-249insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCCTGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243480604	A A	ATGGATGG others(549): Show ATGGATGGATGGATGGGTGGATGGATGGATGGGTGGGTGGGATGGATGGG TGGATGGGTTGGATGGATGGGAGGGATGGATGGATGGGATGGATGGATGG GATGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATGGA TGGGTGGGATGGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATG GATGGATGGATGGGATGGATGGGTGGGATGGATGGATGGGTGGGTGGGAT GGATGGATGGATGGGTGGATGGATGGATGGTGGTATGGATGGATGGGTGT GATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATG GATGGGTGGGATGGATGGATGGATGGATGGATGGGATGGATGAATGGGGG ATGGATGGATGGGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGT GGGATGGATGGATGGATGGATGGATGGATGGGTGGGATGGATGGATGGAT GGGTGGGATGGATGGATGGATGGGTGGATGGATGGGTGGGATGGATGGAT GGATGGG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	189	0.0053	556	c.198 others(575): Show c.1986-8391_1986-8390insATGGATGGATGGGTGGGTGGGATGGA TGGGTGGATGGGTTGGATGGATGGGAGGGATGGATGGATGGGATGGATGG ATGGGATGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGA TGGATGGGTGGGATGGGATGGATGGGTGGGATGGATGGATGGATGGGTGG GATGGATGGATGGATGGGATGGATGGGTGGGATGGATGGATGGGTGGGTG GGATGGATGGATGGATGGGTGGATGGATGGATGGTGGTATGGATGGATGG GTGTGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATG GATGGATGGGTGGGATGGATGGATGGATGGATGGATGGGATGGATGAATG GGGGATGGATGGATGGGGGATGGATGGATGGATGGGTGGGATGGATGGAT GGGTGGGATGGATGGATGGATGGATGGATGGATGGGTGGGATGGATGGAT GGATGGGTGGGATGGATGGATGGATGGGTGGATGGATGGGTGGGATGGAT GGATGGATGGGTGGATGGATGGATGGGTGG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMIM36_chr17_55444856_55516452	55501128	A A	ATTATAAT others(549): Show ATTATAATATATAATATAATATACATTATATTTTATGATATATAATATAC ATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATGATATATAATATACATTATATTTTATGATATATA ATATACATTATATTTTATGATATATGATATACATTATATTTTATGATATA TGATATACATTATATTTTATGATATATGATATACATTATATTTTATGATA TATGATATACATTATATTTTATGATATATGATATATATTATATTTTATGA TATATGATATATATTATATTTTATGATATATATTATATATTATATTTTAT GATATATAATATATATTATATTTTATGATATATAATATATATTATATTTT ATGATATATAATATATATTATATTTTATGATATATAATATATTTTATATT TTATGATATATAATATATTTTATATTTTATGATATATAATATATTTTATA TTTTATG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01928.hp2 HG02273.hp2 others(1): Show HG01257.hp2 HG01928.hp2 HG02273.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0302 a0001c0001t0002g0306 a0001c0001t0002g0325 others(1): Show a0001c0001t0002g0302 a0001c0001t0002g0306 a0001c0001t0002g0325 a0001c0001t0002g0326	4	340	0.0118	556	c.17 others(575): Show c.174+9750_*174+9751insCATAAAATATAAAATATATTATATAT CATAAAATATAAAATATATTATATATCATAAAATATAAAATATATTATAT ATCATAAAATATAATATATATTATATATCATAAAATATAATATATATTAT ATATCATAAAATATAATATATATTATATATCATAAAATATAATATATAAT ATATATCATAAAATATAATATATATCATATATCATAAAATATAATATATA TCATATATCATAAAATATAATGTATATCATATATCATAAAATATAATGTA TATCATATATCATAAAATATAATGTATATCATATATCATAAAATATAATG TATATCATATATCATAAAATATAATGTATATTATATATCATAAAATATAA TGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATAT AATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAAT ATAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAA ATATAATGTATATTATATTATATATTATAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501128	A A	ATTATAAT others(549): Show ATTATAATATATAATATAATATACATTATATTTTATGATATATAATATAC ATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATGATATATAATATACATTATATTTTATGATATATG ATATACATTATATTTTATGATATATGATATACATTATATTTTATGATATA TGATATACATTATATTTTATGATATATGATATACATTATATTTTATGATA TATGATATACATTATATTTTATGATATATGATATATATTATATTTTATGA TATATGATATATATTATATTTTATGATATATATTATATATTATATTTTAT GATATATAATATATATTATATTTTATGATATATAATATATATTATATTTT ATGATATATAATATATTTTATATTTTATGATATATAATATATTTTATATT TTATGATATATAATATATTTTATATTTTATGATATATAATATATTTTATA TTTTATG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0315 a0001c0001t0002g0315	1	340	0.0029	556	c.17 others(575): Show c.174+9750_*174+9751insCATAAAATATAAAATATATTATATAT CATAAAATATAAAATATATTATATATCATAAAATATAAAATATATTATAT ATCATAAAATATAAAATATATTATATATCATAAAATATAATATATATTAT ATATCATAAAATATAATATATATTATATATCATAAAATATAATATATAAT ATATATCATAAAATATAATATATATCATATATCATAAAATATAATATATA TCATATATCATAAAATATAATGTATATCATATATCATAAAATATAATGTA TATCATATATCATAAAATATAATGTATATCATATATCATAAAATATAATG TATATCATATATCATAAAATATAATGTATATCATATATCATAAAATATAA TGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATAT AATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAAT ATAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAA ATATAATGTATATTATATTATATATTATAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501128	A A	ATTATAAT others(549): Show ATTATAATATATAATATAATATACATTATATTTTATGATATATAATATAC ATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATGATATATGATATACATTATATTTTATGATATATG ATATACATTATATTTTATGATATATGATATACATTATATTTTATGATATA TGATATACATTATATTTTATGATATATGATATATATTATATTTTATGATA TATGATATATATTATATTTTATGATATATATTATATATTATATTTTATGA TATATAATATATATTATATTTTATGATATATAATATATATTATATTTTAT GATATATAATATATATTATATTTTATGATATATAATATATTTTATATTTT ATGATATATAATATATTTTATATTTTATGATATATAATATATTTTATATT TTATGATATATAATATATTTTATATTTTATGATATATAATATATTTTATA TTTTATG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0271 a0001c0001t0011g0271	1	340	0.0029	556	c.17 others(575): Show c.174+9750_*174+9751insCATAAAATATAAAATATATTATATAT CATAAAATATAAAATATATTATATATCATAAAATATAAAATATATTATAT ATCATAAAATATAAAATATATTATATATCATAAAATATAAAATATATTAT ATATCATAAAATATAATATATATTATATATCATAAAATATAATATATATT ATATATCATAAAATATAATATATATTATATATCATAAAATATAATATATA ATATATATCATAAAATATAATATATATCATATATCATAAAATATAATATA TATCATATATCATAAAATATAATGTATATCATATATCATAAAATATAATG TATATCATATATCATAAAATATAATGTATATCATATATCATAAAATATAA TGTATATCATATATCATAAAATATAATGTATATTATATATCATAAAATAT AATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAAT ATAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAA ATATAATGTATATTATATTATATATTATAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(549): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTC CTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCT CCTCCTGTGTCTCCTCCCCCTCATCCTCCTGTATCTCCTCCCCCTCATCC TCCTGTA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	202	0.0050	556	c.262 others(575): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCCTCCCCC TCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTC CTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCT CCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCC TCCTGTATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCATCCTC CTGTATCTCCTCCCCCTCATCCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(549): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTC CTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCT CCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCC TCCTGTA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0083 a0001c0001t0005g0083	1	202	0.0050	556	c.262 others(575): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTC CTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCT CCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCC TCCTGTATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTC CTGTATCTCCTCCCCCTCCTCCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(549): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACA GGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGA GAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGG AGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGG AGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAG GGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGGGGAGGGAGAGAGA TGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGG AGAGGGACAGGGGGAGGGAGAAGGAGAGGGGGAGGGAGAGGGAGAGAGAG GGAGAGGGAGAGAGAGGGAGAGGGAGTGAGAGAGAGAGGGAGAGAGAGGG AGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00642.hp2 others(12): Show HG00099.hp1 HG00280.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01109.hp1 HG01255.hp2 HG01361.hp1 HG02451.hp1 HG02738.hp2 HG03490.hp1 HG03490.hp2 HG06807.hp1 NA20752.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0012 a0001c0038 a0001c0041 a0001c0066 a0001c0104 a0003c0061 a0003c0063 a0004c0115	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0012t0001 a0001c0038t0001 a0001c0041t0001 a0001c0066t0001 a0001c0104t0001 a0003c0061t0001 a0003c0063t0001 a0004c0115t0001	a0001c0001t0001g0115 a0001c0001t0001g0176 a0001c0001t0001g0208 others(12): Show a0001c0001t0001g0115 a0001c0001t0001g0176 a0001c0001t0001g0208 a0001c0002t0001g0104 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0004t0001g0070 a0001c0012t0001g0065 a0001c0038t0001g0099 a0001c0041t0001g0127 a0001c0066t0001g0072 a0001c0104t0001g0123 a0003c0061t0001g0160 a0003c0063t0001g0097 a0004c0115t0001g0125	15	256	0.0586	556	c.22 others(567): Show c.2268_*2269insGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAG GGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGG GGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGG AGAGGGAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAG GGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGG AGGGGGCGGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGG GAGAGGGAGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGG GAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGG GGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAG AGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGGGAGG GAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAGAGGGAGTGAGAGAGA GAGGGAGAGAGAGGGAGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1886		chr12	TogoVar
SYNPR_chr3_63273308_63621924	63595833	T T	TTTTATAT others(549): Show TTTTATATATATATATATAATTTTATATATATATAGTTTTATATATATAT ATAATTTTATATATATATAGTTTTATATATATATATAATTTTATATATAT ATAGTTTTATATATATATATAATTTTATATATATATAGTTTTATATATAT ATATAATTTTATATATATATAGTTTTTTATATATATATATAATTTTATAT ATATATAGTTTTTTATATATATATATATAATTTTATATATATATAGTTTT ATATATATATATATAATTTTATATATATAGTTTTATATATATATATAATT TTATATATATATAGTTTTATATATATATATATAATTTTATATATATATAG TTTTATATATATATATAATTTTATATATATATAGTTTTATATATATATAT ATATAATTTTATATATATATAGTTTTATATATATATATATAATTTTATAT ATATATATAATTTTATATATATATAGTTTTATATATATATAGTTATATAT ATATAATTTTATATATATATAGTTTTATATATATATAGTTATATATATAT AATTTTA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0173 a0001c0001t0001g0158 a0001c0001t0001g0173	2	246	0.0081	556	c.409 others(575): Show c.409-13291_409-13290insTTATATATATATATATAATTTTATAT ATATATAGTTTTATATATATATATAATTTTATATATATATAGTTTTATAT ATATATATAATTTTATATATATATAGTTTTATATATATATATAATTTTAT ATATATATAGTTTTATATATATATATAATTTTATATATATATAGTTTTTT ATATATATATATAATTTTATATATATATAGTTTTTTATATATATATATAT AATTTTATATATATATAGTTTTATATATATATATATAATTTTATATATAT AGTTTTATATATATATATAATTTTATATATATATAGTTTTATATATATAT ATATAATTTTATATATATATAGTTTTATATATATATATAATTTTATATAT ATATAGTTTTATATATATATATATATAATTTTATATATATATAGTTTTAT ATATATATATATAATTTTATATATATATATAATTTTATATATATATAGTT TTATATATATATAGTTATATATATATAATTTTATATATATATAGTTTTAT ATATATATAGTTATATATATATAATTTTAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TECTA_chr11_121096243_121196490	121185350	A A	ATGCTTAA others(549): Show ATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAGTAG GGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTG AATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATG AGTAGGGAAAGCAGATGTTCAATGCTTAATGAACGAGTAGGGAAAGCAGA TGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAAT GAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTC AATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATG AGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTCAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0002 a0001c0040t0002	a0001c0040t0002g0322 a0001c0040t0002g0322	1	348	0.0029	556	c.600 others(575): Show c.6000-2450_6000-2449insGAATGCTTAATGAGTAGGGAAAGCAG ATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAA TGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAA AGCAGATGTTCAATGCTTAATGAACGAGTAGGGAAAGCAGATGTTGAATG CTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTA GGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT GAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAAT GAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAG ATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAA TGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAA AGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAGTG CTTAATGAATGAGTAGGGAAAGCAGATGTT	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar

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Search Results (Total: 10000 hits)