Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(709): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCC CCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCC CTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCT CCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTC CTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCC CTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCC CCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCC CCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCT CCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCT ACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCT CTCCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	322	0.0031	716	c.4-1 others(729): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTC CTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTT CCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCT CCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCC TCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCC CCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTC CTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCT TCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTT CCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCT GTCCCTCCCCTCTCCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSF3_chr16_89088852_89161233	89137311	C C	CGGGGAAG others(710): Show CGGGGAAGGATTGAGGGGAAGAGCCCCGGGTCCCGGGGAGGACCACCAGG AGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCGGGTCCCGGGAGGACCA CCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAG GACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTC GGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAG GTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGC CCCAGGTCTCGGGAGGACCACCAGGAGCTTGTGGGGAACGAGTGAGGGGA AGAGCCCCGGGTCCCGGGGAGGACCACCAGGAGCTCAAGGGGAAGGATTG AGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAG GATTGAGGGGAAGAGCCCCAGGTCCTGGGAGGACCACCAGGAGCTCACGG GGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAG GAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACC ACCAGGAGCTTGTGGGGAAGGACTGAGGGGAAGAGCCCCAGGTCTTGGGA GGACCACCAGGAGCTCAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0026 a0002c0003t0005g0026	1	368	0.0027	717	c.136 others(736): Show c.1366+4080_1366+4081insCCGGGGAGGACCACCAGGAGCTCACG GGGAAGGATTGAGGGGAAGAGCCCCGGGTCCCGGGAGGACCACCAGGAGC TCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCA GGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGAC CACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGG AGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTC TCGGGAGGACCACCAGGAGCTTGTGGGGAACGAGTGAGGGGAAGAGCCCC GGGTCCCGGGGAGGACCACCAGGAGCTCAAGGGGAAGGATTGAGGGGAAG AGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGG GGAAGAGCCCCAGGTCCTGGGAGGACCACCAGGAGCTCACGGGGAAGGAT TGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGA AGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCAC GGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAG CTTGTGGGGAAGGACTGAGGGGAAGAGCCCCAGGTCTTGGGAGGACCACC AGGAGCTCATGGGGAAGGATTGAGGGGAAGAGCCCCGGGTC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ARSF_chrX_3036471_3117727	3037096	A A	ATTATATA others(710): Show ATTATATATAAAATATATATAATATATATATTATATATATTATATATAAA ATATATATAATATATAATATATATATTATATATAAAATATATATAATATA TATAATATATATATTATATATAAAATATATATAATATATATATTATATAT AAAATATATATAATATATATAATATATATAATATATATATTATATATAAA ATATATATAATATATATAATATATATAATATATATATTATATATAAAATA TATATAATATATATATTATATATAAAATATATATAATATATATAATATAT ATATTATATATAAAATATATATAATATATATATTATATATAAAATATATA TAATATATATAATATATATATTATATATAAAATATATATAATATATATAT TATATATAAAATATATATAATATATATAATATATATATTATATATAAAAT ATATATAATATATATATTATATATAAAATATATATAATATATAATATATA TATTATATATAAAATATATATAATATATATAATATATATAAAATATATAT AATATATATAATATATATATTATATATAAAATATATATAATATATATAAT ATATATATTATATATAAAATATATATCATATATATAATATATATATTATA TATAAAATATATATCATATATATAATATATATATTATATATAAAATATAT ATCATATATATAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0039 a0001c0005t0001g0039	1	193	0.0052	717	c.-45 others(728): Show c.-4596_-4595insTTATATATAAAATATATATAATATATATATTATA TATATTATATATAAAATATATATAATATATAATATATATATTATATATAA AATATATATAATATATATAATATATATATTATATATAAAATATATATAAT ATATATATTATATATAAAATATATATAATATATATAATATATATAATATA TATATTATATATAAAATATATATAATATATATAATATATATAATATATAT ATTATATATAAAATATATATAATATATATATTATATATAAAATATATATA ATATATATAATATATATATTATATATAAAATATATATAATATATATATTA TATATAAAATATATATAATATATATAATATATATATTATATATAAAATAT ATATAATATATATATTATATATAAAATATATATAATATATATAATATATA TATTATATATAAAATATATATAATATATATATTATATATAAAATATATAT AATATATAATATATATATTATATATAAAATATATATAATATATATAATAT ATATAAAATATATATAATATATATAATATATATATTATATATAAAATATA TATAATATATATAATATATATATTATATATAAAATATATATCATATATAT AATATATATATTATATATAAAATATATATCATATATATAATATATATATT ATATATAAAATATATATCATATATATAATATAT	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4374		chrX	TogoVar
ARSH_chrX_3001546_3039111	3037096	A A	ATTATATA others(710): Show ATTATATATAAAATATATATAATATATATATTATATATATTATATATAAA ATATATATAATATATAATATATATATTATATATAAAATATATATAATATA TATAATATATATATTATATATAAAATATATATAATATATATATTATATAT AAAATATATATAATATATATAATATATATAATATATATATTATATATAAA ATATATATAATATATATAATATATATAATATATATATTATATATAAAATA TATATAATATATATATTATATATAAAATATATATAATATATATAATATAT ATATTATATATAAAATATATATAATATATATATTATATATAAAATATATA TAATATATATAATATATATATTATATATAAAATATATATAATATATATAT TATATATAAAATATATATAATATATATAATATATATATTATATATAAAAT ATATATAATATATATATTATATATAAAATATATATAATATATAATATATA TATTATATATAAAATATATATAATATATATAATATATATAAAATATATAT AATATATATAATATATATATTATATATAAAATATATATAATATATATAAT ATATATATTATATATAAAATATATATCATATATATAATATATATATTATA TATAAAATATATATCATATATATAATATATATATTATATATAAAATATAT ATCATATATATAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0219 a0001c0007t0002g0219	1	248	0.0040	717	c.37 others(728): Show c.3711_*3712insTTATATATAAAATATATATAATATATATATTATA TATATTATATATAAAATATATATAATATATAATATATATATTATATATAA AATATATATAATATATATAATATATATATTATATATAAAATATATATAAT ATATATATTATATATAAAATATATATAATATATATAATATATATAATATA TATATTATATATAAAATATATATAATATATATAATATATATAATATATAT ATTATATATAAAATATATATAATATATATATTATATATAAAATATATATA ATATATATAATATATATATTATATATAAAATATATATAATATATATATTA TATATAAAATATATATAATATATATAATATATATATTATATATAAAATAT ATATAATATATATATTATATATAAAATATATATAATATATATAATATATA TATTATATATAAAATATATATAATATATATATTATATATAAAATATATAT AATATATAATATATATATTATATATAAAATATATATAATATATATAATAT ATATAAAATATATATAATATATATAATATATATATTATATATAAAATATA TATAATATATATAATATATATATTATATATAAAATATATATCATATATAT AATATATATATTATATATAAAATATATATCATATATATAATATATATATT ATATATAAAATATATATCATATATATAATATAT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2986		chrX	TogoVar
ATP11A_chr13_112685038_112892168	112872978	G G	GTGATGTG others(710): Show GTGATGTGAGGTATGGCTTTGTCTTCCTGAGTGGTGTGAGATGTGGCTTT GTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTCCTTAATGGTGTGAGG TGTGGCTTTGTCTTCCTGAACGGTGTGAGGTGTGGCTTTGTCTTCCTGAG TGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTG TCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGG TGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTCCTGAAT GTTGTGAGGTGTTGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGT CTTCCTGAATGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGATGTGAGGT GTGGCTTTGTCTTCCTGAGTGGTGTGAGATGTGGCTTTGTCTTCCTGAGC GGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGT CTTCTGGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGT GTGGCTTTGTCTTCCTGAGCAGTGTGAGGTGTGGCTTTGTCTTCCTGAAC GGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGT CTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTCCTTAATGGTGTGAGGTG TGGCTTTGTCTTCCTGAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01891.hp2 HG02055.hp1 others(3): Show HG01261.hp1 HG01891.hp2 HG02055.hp1 HG02280.hp1 HG02280.hp2 HG02647.hp1	a0001 a0014 a0001 a0014	a0001c0002 a0001c0013 a0001c0017 others(1): Show a0001c0002 a0001c0013 a0001c0017 a0014c0023	a0001c0002t0004 a0001c0013t0004 a0001c0017t0058 others(1): Show a0001c0002t0004 a0001c0013t0004 a0001c0017t0058 a0014c0023t0002	a0001c0002t0004g0041 a0001c0013t0004g0035 a0001c0013t0004g0083 others(3): Show a0001c0002t0004g0041 a0001c0013t0004g0035 a0001c0013t0004g0083 a0001c0013t0004g0084 a0001c0017t0058g0053 a0014c0023t0002g0064	6	254	0.0236	717	c.305 others(734): Show c.3058-595_3058-594insTGATGTGAGGTATGGCTTTGTCTTCCTG AGTGGTGTGAGATGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTT TGTCTCCTTAATGGTGTGAGGTGTGGCTTTGTCTTCCTGAACGGTGTGAG GTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGA GCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTT GTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAG GTGTGGCTTTGTCTCCTGAATGTTGTGAGGTGTTGCTTTGTCTTCCTGAG TGGTGTGAGGTGTGGCTTTGTCTTCCTGAATGGTGTGAGGTGTGGCTTTG TCTTCCTGAGTGATGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGA TGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAG TGGTGTGAGGTGTGGCTTTGTCTTCTGGAGCGGTGTGAGGTGTGGCTTTG TCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCAGTGTGAGG TGTGGCTTTGTCTTCCTGAACGGTGTGAGGTGTGGCTTTGTCTTCCTGAG CGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTG TCTCCTTAATGGTGTGAGGTGTGGCTTTGTCTTCCTGAA	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	26/29			chr13	TogoVar
CENPM_chr22_41933737_41952152	41939808	A A	AAAAAGAA others(710): Show AAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAAGAAAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAAGGAAAGAAAAAAGAAAGAAAAAAGA AAGAAAAAGAAAGAAGAAAGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGA AAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAA GAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA AAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAA AGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAG AAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAA GAAAGAAAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGA AGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAGAA AGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAAAGAAAGAA AGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAGAA AGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAA AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0165 a0001c0002t0002g0165	1	258	0.0039	717	c.403 others(732): Show c.403-613_403-612insCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT CTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTT CTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTT CTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTT CTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTCTTTCTCTTTC TTTCTCTTTCTTTCTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTC TCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTTTCT TTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTT CTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTCTTTCTTTCTCTT TCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTT TCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTC TTTCTTTCTTTCTTTCTTCTTTCTTCTTTCTTTTTCTTTCTTTTTTCTTT CTTTTTTCTTTCCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTT TTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CFAP61_chr20_20047532_20365698	20320485	A A	ATTATATA others(710): Show ATTATATATATTATATATGTAATATATATTATATATATTATATATGTAAT ATATATTATATATATTATATATGTAATATATATTATATATATTATATATG TAATATATATTATATATATTATATATGTAATATATATTATATATATTATA TATATTATATATGCAATATATATTATATATTACATATGTAATATATATAT TATATATTACATATGTAATATATATTACATATGTAATATATATTATATAT GTAATATATATTACATATATTATATATGTAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATATTATATATATAATATATATT ATATATGTAATATATAATATATATTATATATGTAATATATATTATATATG TAATATATATTATATATGTAATATATAACATATATTATATATGTAATATA TATTATATATGTAATATATAATATATATTATATATGTAATATATATTATA TATATAATATATATTATATATGTAATATATATTATATATGTAATATATGT AATATATATTATATATGTAATATATGTAATATATATTATATATGTAATAT ATGTAATATATATTATATATGTAATATATGTAATATATATTATATATGTA ATATATGTAATATATATT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0018 a0002c0002t0007g0018	1	236	0.0042	717	c.342 others(738): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATGTAATATATATTATATATATTATATA TGTAATATATATTATATATATTATATATATTATATATGCAATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT TACATATGTAATATATATTATATATGTAATATATATTACATATATTATAT ATGTAATATATATTATATATGTAATATATAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATAATATATATTATATATGTAAT ATATATTATATATATAATATATATTATATATGTAATATATAATATATATT ATATATGTAATATATATTATATATGTAATATATATTATATATGTAATATA TAACATATATTATATATGTAATATATATTATATATGTAATATATAATATA TATTATATATGTAATATATATTATATATATAATATATATTATATATGTAA TATATATTATATATGTAATATATGTAATATATATTATATATGTAATATAT GTAATATATATTATATATGTAATATATGTAATATATATTATATATGTAAT ATATGTAATATATATTATATATGTAATATATGTAATATATATT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26			chr20	TogoVar
CFAP61_chr20_20047532_20365698	20320494	A A	AATATATA others(710): Show AATATATAATATATGTAATATATATTATATATATTATATATGCAATATAT ATTATATATGCAATATATATTATATATATTATATATGCAATATATATTAT ATATATTACATATGCAATATATTATATATATTACATATGCAATATATATT ATATATATTACATATGCAATATATATTATATATATTATATATGTAATATA TATTACATATGTAATATATATTATATATTACATATGTAATATATATTATA TATATTACATACTACATATATAATATATATTACATATGTAATATATATTA TATATATTACATATGTAATATATATTATATATGTAATATATATTATATAT GTAATATATATTATATATTATATATGTAATATATAATATATATTATATAT GTAATATATAATATATATTATATATGTAATATATAATATATATTATATAT AATATATATTATATGTAATATATAATATATATTATATGTAATATATAATA TATATTATATATGTAATATATATAATATATATTATATATGTAATATATAT AATATATATTATATATGTAATATATAATATATATTATATAAGTAATATAT ATTACATATGTAATATATATTACGTATGTAATATATATTATGTATATTAT ATATGTAATATATATTATGTATATTATATATGTAATATATAATATATATA ATATATGTAATATATATT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0005 a0005	a0005c0025 a0005c0025	a0005c0025t0005 a0005c0025t0005	a0005c0025t0005g0140 a0005c0025t0005g0140	1	236	0.0042	717	c.342 others(738): Show c.3423-21330_3423-21329insATATATGTAATATATATTATATAT ATTATATATGCAATATATATTATATATGCAATATATATTATATATATTAT ATATGCAATATATATTATATATATTACATATGCAATATATTATATATATT ACATATGCAATATATATTATATATATTACATATGCAATATATATTATATA TATTATATATGTAATATATATTACATATGTAATATATATTATATATTACA TATGTAATATATATTATATATATTACATACTACATATATAATATATATTA CATATGTAATATATATTATATATATTACATATGTAATATATATTATATAT GTAATATATATTATATATGTAATATATATTATATATTATATATGTAATAT ATAATATATATTATATATGTAATATATAATATATATTATATATGTAATAT ATAATATATATTATATATAATATATATTATATGTAATATATAATATATAT TATATGTAATATATAATATATATTATATATGTAATATATATAATATATAT TATATATGTAATATATATAATATATATTATATATGTAATATATAATATAT ATTATATAAGTAATATATATTACATATGTAATATATATTACGTATGTAAT ATATATTATGTATATTATATATGTAATATATATTATGTATATTATATATG TAATATATAATATATATAATATATGTAATATATATTATATATA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHTF18_chr16_783620_803074	795584	G G	GCCCCCCC others(710): Show GCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCC CCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCA AACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCAC ACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCC CCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCG CCCCGCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18984.hp2 NA18971.hp1 NA18984.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0024 a0003c0003t0001g0024	2	428	0.0047	717	c.217 others(732): Show c.2176-95_2176-94insCAAACACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTT CTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCC CCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCC CAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCA ACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAAC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCGCCCCGCCCCGCCCCTCCCCTCCCCCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL21A1_chr6_56051590_56252580	56098116	T T	TATATAAA others(710): Show TATATAAATATATATAAATATATATGTAAATATATAAATATATATAAATA TATATGTAAATATATAAATATATATAAATAAATATATATAAATATATATA AATATAAATATATATATAAATATGTAATTCTAAATATATATGTAAATATA TATAAATATAAATATATTTATAAATATATAAATATATAAATATATATAAA AATATATATAAATATATAAAAAAATATAAATATATATAAATATATAAATA TATGTAAAATATATATAAATATATATATAAATATATATATAAATATATAT ATAAATATATATATAAATATATATATAAATATATATATAAATATATATAT ATAAATATATATAAATATATAACTATATAAATAAATATATATAAATATAT AAATATATAAAAATATATATAAATATATATGTAAATATATAAATATATAT AAATATATATAAATATATATAAGTATATAAATATATATAAATATATATAA GTATATAAATATATATATAAATATATATAAGTATATAAATATATATATAA ATATATATAAGTATATAAATATATATAAATATATATAAGTATATAAATAT ATATATAAATATATATAAGTATATATAAATATATATAAATATATATAAGT ATATATAAATATATAAAAATATATATAAGTATATATAAATATATATAAAT ATATATAAATATATGCAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0170 a0002c0008t0001g0170	1	264	0.0038	717	c.181 others(736): Show c.1812+3355_1812+3356insTTGCATATATTTATATATATTTATAT ATATTTATATATACTTATATATATTTTTATATATTTATATATACTTATAT ATATTTATATATATTTATATATACTTATATATATTTATATATATATTTAT ATACTTATATATATTTATATATATTTATATACTTATATATATTTATATAT ATATTTATATACTTATATATATTTATATATATATTTATATACTTATATAT ATTTATATATATTTATATACTTATATATATTTATATATATTTATATATAT TTATATATTTACATATATATTTATATATATTTTTATATATTTATATATTT ATATATATTTATTTATATAGTTATATATTTATATATATTTATATATATAT ATTTATATATATATTTATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATTTTACATATATTTATA TATTTATATATATTTATATTTTTTTATATATTTATATATATTTTTATATA TATTTATATATTTATATATTTATAAATATATTTATATTTATATATATTTA CATATATATTTAGAATTACATATTTATATATATATTTATATTTATATATA TTTATATATATTTATTTATATATATTTATATATTTACATATATATTTATA TATATTTATATATTTACATATATATTTATATATATTTATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
CYP4F11_chr19_15907377_15939529	15933443	A A	AGAGGAAT others(710): Show AGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAGTGA GTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGC AGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGA GTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGC AGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGGAGAGGAGTGA GTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGG AGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGA GTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGG AGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGA GTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGC AGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGA GTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGC AGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGA GTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGC AGAGGAGTGAGTGAGCGG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0087 a0002c0001t0087	a0002c0001t0087g0188 a0002c0001t0087g0188	1	386	0.0026	717	c.198 others(732): Show c.198+767_198+768insCCGCTCACTCACTCCTCTGCCCGCTCACTC ACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGC CCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTC ACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGC CCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTC ACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTCC CCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTC ACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCC CCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTC ACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCC CCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTC ACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGC CCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTC ACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGC CCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DNAH17_chr17_78418697_78582396	78438426	A A	AGGAGGAG others(710): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAG GAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAG GAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGGGAG GAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGAG GAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGAGGAGGGGGAGGAGG GAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGGGAGG AGGGAGGAGGGAGGAGGAGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGA GGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGA GGAGGAGGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGGAGGAGGA GGAGGGAGGAAGGAGGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGAGGA GGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGG AGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAG GAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGA GGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG AGGAGGAGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0082 a0082	a0082c0174 a0082c0174	a0082c0174t0002 a0082c0174t0002	a0082c0174t0002g0153 a0082c0174t0002g0153	1	252	0.0040	717	c.118 others(736): Show c.11806-559_11806-558insCTCCTCCCTCCTCCTCCTCCTCCTCC TCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTC CCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCC TCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTC CTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTC CTCCTCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTCCTCCTC CCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCCTCCTCCTCTCCCTC CTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTC CCTCCTCCCTCCTCCCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCCC TCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCC CCCTCCTCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCCTCC TCCTCCCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCCCCT CCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCCTCC TCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTCC TCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DOCK8_chr9_209865_470255	400013	T T	TCACCATC others(710): Show TCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACC ACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTC CACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCA CCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATC ACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCTC CACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCA TCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATC TTCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCAC CACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACCACCA CCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATC ACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTC CACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCA CCTCCTTCACCATCACCATCACCATCACCACCACCTCCACCATCACCACC ACCACCTCCACCATCACCACCACCTCCACCACCACCACCATCACCTCCAC CATCACCACCACCTCCAC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0135 a0003c0001t0001g0135	1	256	0.0039	717	c.323 others(734): Show c.3234+759_3234+760insTCACCACCACCTCCACCATCACCACCAC CACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCA TCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACC TCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCAC CACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCTCCTTCA CCATCACCATCACCTCCACCTCCACCATCACCACCACCACCTCCACCATC ACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTC CACCACCACCAGCATCTTCACCATCACCACCACCTCCACCATCACCACCA CCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCACC ACCACCTCCACCACCACCACCTCCACCATCACCACCACCTCCACCACCAC CAGCATCTTCACCATCACCACCACCTCCACCATCACCACCACCTCCACCA TCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACC ACCTCCACCATCACCACCTCCTTCACCATCACCATCACCATCACCACCAC CTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCACCA CCACCATCACCTCCACCATCACCACCACCTCCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89619512	T T	TCCCTGCC others(710): Show TCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCC TCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCC CCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGC TCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCT CCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCCCC CCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCT CCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTC CCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCT CCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTC CCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCCCCCTGCTCCCCTC CCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCT GCTCCCCTCTCTGCAGCC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	250	0.0040	717	c.-10 others(736): Show c.-107+5814_-107+5815insCCTGCAGCTCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCA GCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAG CTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCC CTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCC CCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGC TCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCC CTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGC TCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCCCCCTGCTCCCC TCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCC CTGCTCCCCTCTCTGCAGCCCCCTGCCCCCCTGCTCCCCTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EML1_chr14_99788413_99947060	99928218	G G	GTGGTGGT others(710): Show GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0186 a0003c0002t0001g0186	1	288	0.0035	717	c.190 others(736): Show c.1909+7355_1909+7356insATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGT GATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
FLT3_chr13_27998274_28105576	27998945	T T	TTATATGC others(710): Show TTATATGCATATACATATATATTTATATGCATATAAATATATATTTATAT ACATATAAATATATATGTATATACATATAAATATATGTATATACATATAA ATATATATGTATATACATATAAATATATATGTATATACATATATATATGT ATATACATATATATATATGTATATACATATATATATGTATATACATATAT ATATATGTATATACATATAAATATATATGTATATACATATAAATATATAT GTATATACATATAAATATATATGTATATACATATAAATATATATGTATAT ACATATAAATATATATGTATGTATATTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATTTATATACATATAAATATATATTTATATACATATA AATATATATTTACATACATATAAATATATATTTACATACATATAAATATA TACATTTATATACATATAAATATATACATATATACATATAAATATATATT TATATACATATAAATATATATATTTATATATATTTATATATATATAAATA TATATATATTTATATATATATAAATATATATATATTTATATATATATAAA TATATATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0059	1	292	0.0034	717	c.51 others(728): Show c.5106_*5107insTATATAAATATATATATATTTATATATATATAAA TATATATATATTTATATATATATAAATATATATATATTTATATATATATA AATATATATAAATATATATATTTATATGTATATAAATATATATTTATATG TATATATGTATATATTTATATGTATATAAATGTATATATTTATATGTATG TAAATATATATTTATATGTATGTAAATATATATTTATATGTATATAAATA TATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATA TGTATATAATATACATACATATATATTTATATGTATATACATATATATTT ATATGTATATACATATATATTTATATGTATATACATATATATTTATATGT ATATACATATATATTTATATGTATATACATATATATATATGTATATACAT ATATATATGTATATACATATATATATATGTATATACATATATATATGTAT ATACATATATATTTATATGTATATACATATATATTTATATGTATATACAT ATATTTATATGTATATACATATATATTTATATGTATATAAATATATATTT ATATGCATATAAATATATATGTATATGCATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4328		chr13	TogoVar
FLT3_chr13_27998274_28105576	27998945	T T	TTATATGC others(710): Show TTATATGCATATACATATATATTTATATGCATATAAATATATATTTATAT ACATATAAATATATATGTATATACATATAAATATATGTATATACATATAA ATATATATGTATATACATATAAATATATATGTATATACATATATATATGT ATATACATATATATATATGTATATACATATATATATGTATATACATATAT ATATGTATATACATATAAATATATATGTATATACATATAAATATATATGT ATATACATATAAATATATATGTATATACATATAAATATATATGTATATAC ATATAAATATATATGTATGTATATTATATACATATAAATATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATATTTATA TACATATAAATATATATATTTATATACATATAAATATATATATTTATATA CATATAAATATATATTTATATACATATAAATATATATTTATATACATATA AATATATATTTACATACATATAAATATATATTTACATACATATAAATATA TACATTTATATACATATAAATATATACATATATACATATAAATATATATT TATATACATATAAATATATATATTTATATATATTTATATATATATAAATA TATATATATTTATATATATATAAATATATATATATTTATATATATATAAA TATATATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	292	0.0034	717	c.51 others(728): Show c.5106_*5107insTATATAAATATATATATATTTATATATATATAAA TATATATATATTTATATATATATAAATATATATATATTTATATATATATA AATATATATAAATATATATATTTATATGTATATAAATATATATTTATATG TATATATGTATATATTTATATGTATATAAATGTATATATTTATATGTATG TAAATATATATTTATATGTATGTAAATATATATTTATATGTATATAAATA TATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATA TTTATATGTATATAAATATATATATTTATATGTATATAAATATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAATATACATACATATATATTTATATGTATATACATATATAT TTATATGTATATACATATATATTTATATGTATATACATATATATTTATAT GTATATACATATATATTTATATGTATATACATATATATATGTATATACAT ATATATATGTATATACATATATATATATGTATATACATATATATATGTAT ATACATATATATTTATATGTATATACATATATATTTATATGTATATACAT ATATTTATATGTATATACATATATATTTATATGTATATAAATATATATTT ATATGCATATAAATATATATGTATATGCATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4328		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAC others(710): Show GTATATACATATATATATATATGTATATACATATAAATATATATGTATAT ACATATAAATATATATGTATGTATATTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATATTTATATA CATATAAATATATATTTATATACATATAAATATATATTTATATACATATA AATATATATATTTATATACATATAAATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTACATACATATAAATATATA TTTACATACATATAAATATATACATTTATATACATATAAATATATACATA TATACATATAAATATATATTTATATACATATAAATATATATTTATATACA TATAAATATATATATTTATATATATTTATATATATATAAATATATATATA TTTGTATATATATAAATATATATATATTTATATATATATAAATATATATA TATTTATATATATATACATATAAATATATATTTATATACATATAAATATA TAATTATATACATATAAATATATAATTATATACATATAAATATATATAAT TATATACATATAAATATATATTTATATACATATAAATTTATATACATATA AATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG04228.hp2 HG00639.hp2 HG04228.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0002 a0004c0005t0002 a0002c0002t0002 a0004c0005t0002	a0002c0002t0002g0119 a0004c0005t0002g0205 a0002c0002t0002g0119 a0004c0005t0002g0205	2	292	0.0069	717	c.49 others(728): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATACAAATATATATATATTTATA TATATATAAATATATATAAATATATATATTTATATGTATATAAATATATA TTTATATGTATATAAATATATATTTATATGTATATATGTATATATTTATA TGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATATGTA TGTAAATATATATTTATATGTATATAAATATATATATTTATATGTATATA AATATATATTTATATGTATATAAATATATATATTTATATGTATATAAATA TATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATA TTTATATGTATATAAATATATATTTATATGTATATAAATATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATA TGTATATAATATACATACATATATATTTATATGTATATACATATATATTT ATATGTATATACATATATATATATATGTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAC others(710): Show GTATATACATATATATATATATGTATATACATATAAATATATATGTATAT ACATATAAATATATATGTATGTATATTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATTTATA TACATATAAATATATATATTTATATACATATAAATATATATTTATATACA TATAAATATATATTTATATACATATAAATATATATATTTATATACATATA AATATATATATTTATATACATATAAATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTACATACATATAAATATATA TTTACATACATATAAATATATACATTTATATACATATAAATATATACATA TATACATATAAATATATATTTATATACATATAAATATATATTTATATACA TATAAATATATATATTTATATATATTTATATATATATAAATATATATATA TTTGTATATATATAAATATATATATATTTATATATATATAAATATATATA TATTTATATATATATACATATAAATATATATTTATATACATATAAATATA TAATTATATACATATAAATATATAATTATATACATATAAATATATATAAT TATATACATATAAATATATATTTATATACATATAAATTTATATACATATA AATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01256.hp1 HG01258.hp1 HG00140.hp1 HG01256.hp1 HG01258.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0017 a0002c0002 a0009c0017	a0002c0002t0002 a0009c0017t0002 a0002c0002t0002 a0009c0017t0002	a0002c0002t0002g0107 a0009c0017t0002g0035 a0009c0017t0002g0154 a0002c0002t0002g0107 a0009c0017t0002g0035 a0009c0017t0002g0154	3	292	0.0103	717	c.49 others(728): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATACAAATATATATATATTTATA TATATATAAATATATATAAATATATATATTTATATGTATATAAATATATA TTTATATGTATATAAATATATATTTATATGTATATATGTATATATTTATA TGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATATGTA TGTAAATATATATTTATATGTATATAAATATATATATTTATATGTATATA AATATATATTTATATGTATATAAATATATATATTTATATGTATATAAATA TATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATA TTTATATGTATATAAATATATATATTTATATGTATATAAATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATA TGTATATAATATACATACATATATATTTATATGTATATACATATATATTT ATATGTATATACATATATATATATATGTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
GALNT17_chr7_71127144_71718599	71680082	T T	TCCCTCCC others(710): Show TCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTC TCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCC TCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTC TCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCC TCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTC TCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCC TCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCTCTCCTCCCTCCTCTC TCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCTTCCTCC CTCTCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCT CCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCC CTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCT CTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCC TCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTG TCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCCCTGTCTTCCTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0071 a0001c0009t0010g0071	1	76	0.0132	717	c.150 others(736): Show c.1500+2778_1500+2779insCTCCCTCCCTGTCTTCCTCCCTCCCT CTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTC CTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCT CCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTC CTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCT CCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTC CTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCT CTCTCTCTCCTCCCTCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCT CCCTCCCTCTCTCCTTCCTCCCTCTCTCCCTGTCTTCCTCCCTCCCTCTC TCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTC CCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTC TCTCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTC CCTCCCTCTCTCCCTTCCTCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCT CCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCC CTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GNG13_chr16_793041_805734	795584	G G	GCCCCCCC others(710): Show GCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCC CCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCA AACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCAC ACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCC CCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCG CCCCGCCCCTCCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18984.hp2 NA18971.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	422	0.0047	717	c.31 others(728): Show c.3134_*3135insGGGAGGGGAGGGGCGGGGCGGGGCGGCACGGGGC CGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGGGGG CAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGGGGGCAGCCA CACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACA CGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCA GCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTT TGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGG GGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGG GGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGG CGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAG GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGC ACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCAC GGGGCCGGGGGCAGCCACACGGGCAGCACAGGGGGGCGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGTTTGGGGGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2456		chr16	TogoVar
GRM4_chr6_34013643_34151087	34073265	C C	CCCCACAC others(710): Show CCCCACACACAGACTCACACATCACCACAAAGATACACAACACACACACA TATCACACAGATACAGACCACACACACACACACAATCACCACATAGATAC ACACCACACACACACCCACACATCACCACATAGATACACACCACACACAC ATCACCATACAGATACACACCACACACACATCTCCACACATTACCATACA AATATACGCCACCCACACACACCCACACATCACCACACAGATACACACCA CAGACACATAATCACCACACACCACACAGACACACACATCACCACACAGA TACACACCACACACACCCCCATACATCACCACACAGATACACACCACGCA CCACACAGATACACACCACACACACCCACACATCACCACACAGATACATA CCACACACACACACAATCACCACACACCACCACACAGGTACAAACCCACA AATCACCACACAGATACACACCCCACACAGACACATGCACACACATCACC ACACACACACCACACACACACATTGCCACACAGACACACACCCACATCAC CACACAGCTACATACCAGACACACACACCACCACACATCACCACACACAT GCACAACACACACCCACACATCACCACACAGACACACACACACATCATCA TCAGATACACACCACATGCACGTCACCACACAGATACCACACACACGTCA TCGGATACACACCACACA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0184 a0001c0002t0004g0184	1	282	0.0036	717	c.737 others(736): Show c.737-11238_737-11237insTGTGTGGTGTGTATCCGATGACGTGT GTGTGGTATCTGTGTGGTGACGTGCATGTGGTGTGTATCTGATGATGATG TGTGTGTGTGTCTGTGTGGTGATGTGTGGGTGTGTGTTGTGCATGTGTGT GGTGATGTGTGGTGGTGTGTGTGTCTGGTATGTAGCTGTGTGGTGATGTG GGTGTGTGTCTGTGTGGCAATGTGTGTGTGTGGTGTGTGTGTGGTGATGT GTGTGCATGTGTCTGTGTGGGGTGTGTATCTGTGTGGTGATTTGTGGGTT TGTACCTGTGTGGTGGTGTGTGGTGATTGTGTGTGTGTGTGGTATGTATC TGTGTGGTGATGTGTGGGTGTGTGTGGTGTGTATCTGTGTGGTGCGTGGT GTGTATCTGTGTGGTGATGTATGGGGGTGTGTGTGGTGTGTATCTGTGTG GTGATGTGTGTGTCTGTGTGGTGTGTGGTGATTATGTGTCTGTGGTGTGT ATCTGTGTGGTGATGTGTGGGTGTGTGTGGGTGGCGTATATTTGTATGGT AATGTGTGGAGATGTGTGTGTGGTGTGTATCTGTATGGTGATGTGTGTGT GGTGTGTATCTATGTGGTGATGTGTGGGTGTGTGTGTGGTGTGTATCTAT GTGGTGATTGTGTGTGTGTGTGTGGTCTGTATCTGTGTGATATGTGTGTG TGTTGTGTATCTTTGTGGTGATGTGTGAGTCTGTGTGTGGG	GRM4	ENSG00000124493.14	transcript	ENST00000538487.7	protein_coding	3/10			chr6	TogoVar
HOMEZ_chr14_23267422_23291132	23280740	A A	ATTTTATT others(710): Show ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0004 a0010c0030t0004	a0010c0030t0004g0185 a0010c0030t0004g0185	1	394	0.0025	717	c.41- others(732): Show c.41-3554_41-3553insAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(710): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGA GGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGG GAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGG AGGAGGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGC AAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	204	0.0049	717	c.978 others(734): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGG CAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAG GAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGA TGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGG AGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGG GCAGGGAGGACGGGCAGGGAGGAGGGGGCAGGGAGGAGAGAGGGGCAGGG AGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173157	T T	TCCCCCTC others(710): Show TCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTC TCTCTCTCCCCCTCCCCTCCCCCTCTGTCTCCCCCTCCCCCTCCCCCCTC TCCCCTCCTCCCCTCTCCCCTCCCCCTCCCCCTCCCCCTCTCTCCCCCTC CCCCTCCCCCCTCTCCCTCCCCCTCTCCCATCCCCCTCCCCCCTCTCCCC CTCCCCTTCCCCTCCCCCCTCTCTCCCCCTCCCCTCCCCCCTCCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTC TCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCC TCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTC CCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCT TCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCCCCCCCTCCTTCCC TCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTC TCTCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTCCTTCCCTCTGTCT CTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCT CTCTCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCT CTCTCTCCCCCTCCTTCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0023 a0001c0042t0023	a0001c0042t0023g0126 a0001c0042t0023g0126	1	158	0.0063	717	c.11 others(738): Show c.1103+4125_*1103+4126insCCCCTCCCCCTCCTTCCCTCTCTC TCCCCCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCCTCCCCCTCT GTCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCTCCCCTCTCCCCTCCCCC TCCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCCTCTCCCTCCCCCTCT CCCATCCCCCTCCCCCCTCTCCCCCTCCCCTTCCCCTCCCCCCTCTCTCC CCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCC CTCTCTCTCCCCCTCCCCCCTCTCTCCCCCTCCTTCCCTCTCCCCCTCCC CCTCCTTCCCTCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCT CCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTC CCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCC TCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTC TCTCCCCCCCTCCTTCCCTCTCTCTCTCCCCCCTCCTTCCCTCTGTCTCT CTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTCCTTCCCTCTCTCT CTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCCCTCTCTCT CTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KRT82_chr12_52388931_52411335	52409027	C C	CCTCTCCC others(710): Show CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCTCCTTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCACTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0090 a0001c0001t0015g0090	1	370	0.0027	717	c.-27 others(728): Show c.-2751_-2750insAGGGAGAGTGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAAGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2693		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409027	C C	CCTCTCCC others(710): Show CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCTCCTTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCACTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	370	0.0027	717	c.-27 others(728): Show c.-2751_-2750insAGGGAGAGTGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAAGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2693		chr12	TogoVar
LHPP_chr10_124456823_124619141	124610989	C C	CGGGTGAG others(710): Show CGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGT GTTGACGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGTGGGTGAGGGTGA GGGTGCTGATGGAGCGGGTGCGGGTGAGGGTGAGGGTGCTGATGGAGCGG GTGAGGGTGCTGGTGGAGCGGGTGCGGGTGCGGGTGCAGGTGAGGGTGCT GATGGAGCGGGCGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGG TGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGG GTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGT GAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGAGGGTGCTGA TGGAGCGGGCGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTG AGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCG GGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGA GGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGG GTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGCGGGTGAGGGTGCT GATGGAGTGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGG TGTTGACGGAGCGGGTGA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	260	0.0039	717	c.717 others(734): Show c.717-2264_717-2263insCGGGTGAGGGTGCTGATGGAGCGGGTGA GGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGTGG GTGAGGGTGAGGGTGCTGATGGAGCGGGTGCGGGTGAGGGTGAGGGTGCT GATGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGCGGGTGCGGGTGCAGG TGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGCTGATGGAG CGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGT GAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGC GGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTG AGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGAGGGTGCTGAT GGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGC TGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGG GTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTT GACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGCGGG TGAGGGTGCTGATGGAGTGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTG AGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(710): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGG GGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGG AGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGGGGGA GGGGGAGGGTAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGG GGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGG GGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGG GGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGG AGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGG GAGGGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	1	272	0.0037	717	c.250 others(732): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCTCCCCCCTCCCCTCCCCCTCCCCCCTACCCTCCCCCTCCCCCCTACCC TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTC ACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCG CCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCC CTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCC TTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOGAT3_chr7_101190007_101206036	101191958	G G	GGGAGGCC others(710): Show GGGAGGCCAAGGCAGGTAGATCGCTTGAGGCCAGGAATTAGAGACCAGCC TGGCCAACATGGTGAAACCCCATCTCCACAAAAAATACCAAAATTATCTG GGTGTGGTGGCACATCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTT AAAAAAAAAGAACCCATGGATTGAAACATGTTTAATGTGTTTCAATCCAA TGCAGTTGCCTTTTTTTTTTTTTTTCAGACGGAGTCTCGCTCTGTCGCCA GGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCG GGTTCAAGCAATTCTCTTGCTTCAGCCTTCCGAGTAGCTGAGACTACAGG CGCACACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGACGGGGT TTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGCC TGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGCCC AGCCTGCTGTTGCCTTTCTTACTGATGCTCAAGTTATTTAATTTTTGGAT AAATTGCTGTTTTAAAGCAATACAGAGGGCCAGGTGCGGTGGCTCACACC TGTAATCCCAGCACTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0065 a0002c0002t0005g0065	1	438	0.0023	717	c.39 others(728): Show c.3987_*3988insTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCA CCTGGCCCTCTGTATTGCTTTAAAACAGCAATTTATCCAAAAATTAAATA ACTTGAGCATCAGTAAGAAAGGCAACAGCAGGCTGGGCGCGATGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATCAGCTGGGTGTGGTGGTGTGCGCCTGTAGTCTCAGCTA CTCGGAAGGCTGAAGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTG CAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGAGA CTCCGTCTGAAAAAAAAAAAAAAAGGCAACTGCATTGGATTGAAACACAT TAAACATGTTTCAATCCATGGGTTCTTTTTTTTTAAGACGGAGTCTGGCT CTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACGGCAACCT CCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAGCCTCCCG AGTAGCTGGGACTACAGGGATGTGCCACCACACCCAGATAATTTTGGTAT TTTTTGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAATTC CTGGCCTCAAGCGATCTACCTGCCTTGGCCTCC	MOGAT3	ENSG00000106384.12	transcript	ENST00000223114.9	protein_coding		3048		chr7	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(710): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCT CCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCC TCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCT CCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	140	0.0071	717	c.114 others(736): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTC CCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCC CCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(710): Show TCTGCTCTCCCCTCCCCTCTTCCCTCCCCTCTCCCCTCCCCCTCCCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTC CCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCCTCCCGTCTCCCCTCCCCT CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCTCCCCCTCCCCTCCTCCCTCTCCTCCCCTCCTCCCCTCCTCCCCT CCTCCCCTCCCTCCTCCCTCCTCCTCCTCCCCCTCCTCCCCTCCTCCCCT CCTCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCCTCCTCCCTCCT CCCCTCCTCCTCCCTCCCCCCTCCCCCCCTCCCCTCCTCCCCTCCTCCCC CTCCCCTCCTCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCCTCCTCCTCT CCCCTCCCCTCGTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCTCTCC CCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCTCCCTCCCCTCCTCCT CCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCTCCTCCTCCCCTCC CCTCCCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0066 a0002c0006t0001g0066	1	140	0.0071	717	c.114 others(736): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCTTCCCTCCCC TCTCCCCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCC CCCTCCCGTCTCCCCTCCCCTCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCTCCCCCTCCCCTCCTCCCTCTCCT CCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCTCCTCCCTCCTCCTCCTC CCCCTCCTCCCCTCCTCCCCTCCTCCCTCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCCCCTCCTCCCTCCTCCCCTCCTCCTCCCTCCCCCCTCCCCCCC TCCCCTCCTCCCCTCCTCCCCCTCCCCTCCTCTCCTCCTCCTCCTCCTCC TCCCCTCCTCCCTCCTCCTCTCCCCTCCCCTCGTCCCCTCCTCCTCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCT CTCCCCTCCCCTCCCCTCTCCCCCCTCCCCTCCCCTCCTCCCTCCCCTCC CCTCCTCCCTCCCCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTC CCATCCCTCCTCCTCCCCTCCCCTCCCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(710): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCT GTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCG TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCAAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAG CCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0136 a0001c0006t0001g0136	1	256	0.0039	717	c.241 others(736): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGG GCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTTGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(710): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCAGGAGGGAGGTGGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAG CCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	256	0.0039	717	c.241 others(736): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGG GCGGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCG GCTGGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(710): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGC CCCGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAG CCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	256	0.0039	717	c.241 others(736): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGG GCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGG CCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCG GCTGGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(710): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCCGGCCAGCCGC CCCGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAG CCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	256	0.0039	717	c.241 others(736): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGG GCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGG CCGGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCG GCTGGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(710): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGGGTCAGCCCCCCCCGCCCGGACAG CCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0069 a0001c0007t0001g0069	1	256	0.0039	717	c.241 others(736): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGG GCGGGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCG GCTGGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(710): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGC CGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	256	0.0039	717	c.241 others(736): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCG GGCGGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCG GCTGGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MYRIP_chr3_39804609_40265321	40203833	A A	ATAAATAT others(710): Show ATAAATATATAATATATATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTAATATATAAATATTTATATTTTATATATTTATAT ATTTTATGATTTTATAAAATATATAATTTATATAATAATTTTATAAATTA TATAATTTATATATTATATATAATATATTTATATTAAATATATATTTATA TATTATATATAATATATTTATATTAAATATATATTTATATATTATATATA ATATATTTATATTAAATATATATATTATATATAATATATTTATATTAAAT ATATATATTATATATAATATATTTATATTAAATATATTATATATAATATA TTTATATTAAATATTATATATTTATATATTATATATTTATATTAAATATT ATATATTTATGTTATATAATATATTTATATTAAATATTATATATTTATAT ATTATATATAATATATTTATATTAAATGTTATATATTTATATATTATATA TAATATATTTATATTAAATGTTATATATTTATATATTATATATAATATAT TTATATTAAATGTTATATATTTATATATTATATATAATATATTTATATTA AATATTATATATTTATATATTATATATAATATATTTATATTAAATATTAT ATATTTATATATTATATATATTTATATTGAATATTATATATTTATATATT ATATAAATATTATATATT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0044 a0001c0006t0004g0044	1	170	0.0059	717	c.166 others(736): Show c.1666-6019_1666-6018insAATATATAATATATATTTATATATAA ATATTTATATTTTATATATTTATATATTTTATATATTAATATATAAATAT TTATATTTTATATATTTATATATTTTATGATTTTATAAAATATATAATTT ATATAATAATTTTATAAATTATATAATTTATATATTATATATAATATATT TATATTAAATATATATTTATATATTATATATAATATATTTATATTAAATA TATATTTATATATTATATATAATATATTTATATTAAATATATATATTATA TATAATATATTTATATTAAATATATATATTATATATAATATATTTATATT AAATATATTATATATAATATATTTATATTAAATATTATATATTTATATAT TATATATTTATATTAAATATTATATATTTATGTTATATAATATATTTATA TTAAATATTATATATTTATATATTATATATAATATATTTATATTAAATGT TATATATTTATATATTATATATAATATATTTATATTAAATGTTATATATT TATATATTATATATAATATATTTATATTAAATGTTATATATTTATATATT ATATATAATATATTTATATTAAATATTATATATTTATATATTATATATAA TATATTTATATTAAATATTATATATTTATATATTATATATATTTATATTG AATATTATATATTTATATATTATATAAATATTATATATTTA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NFATC1_chr18_79390930_79534323	79473629	G G	GTTGCAAG others(710): Show GTTGCAAGGGAAGCGTGTTCTCACACTCACTGTCGACGTTGTGAGGGAAG TGTATTCTCACGCTGTCGACATAAACCTGAGGGAAGCGTGTTCTCACGCT CACTGTTGACGTAAACCTGAGGGAAGTGTGTTCTCACACTGTCAACGTTG TAAACCTGAGGGAAGCGTGTTCTCACACTCACTGTCGACATTGTGAGGGA AGCGTGTTCTCACGCTCACTGTCGACATTGTAAACCTGAGGGAAGCGTGT TCTCGCGCTCACTGTCGACGTTGCGAGGGAAGCGTGTTTTCACACTCACT GTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCAACGTAA ACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACGTTGTAAACCTGAG GGAAGCGTGTTCTCACGCTCGCTGTCGACGTTGTAAACCTGAGGGAAGCG TGTTCTCACGCTCGCTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACG CTCACTGTCGACGTTGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTG TCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACATTGT AAACCTGAGGGAAGCGTGTTCTCGCGCTCACTGTCGACGTTGTAAACCTG AGGGAAGCGTGTTCTCACGCTCACCGTCGACGTAAACCTGAGGGAAGCGT GTTCTCTCACTGTCAACT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02486.hp1 HG01106.hp2 HG02486.hp1	a0001 a0001	a0001c0034 a0001c0055 a0001c0034 a0001c0055	a0001c0034t0011 a0001c0055t0045 a0001c0034t0011 a0001c0055t0045	a0001c0034t0011g0129 a0001c0055t0045g0008 a0001c0034t0011g0129 a0001c0055t0045g0008	2	322	0.0062	717	c.209 others(736): Show c.2092+6068_2092+6069insACACTCACTGTCGACGTTGTGAGGGA AGTGTATTCTCACGCTGTCGACATAAACCTGAGGGAAGCGTGTTCTCACG CTCACTGTTGACGTAAACCTGAGGGAAGTGTGTTCTCACACTGTCAACGT TGTAAACCTGAGGGAAGCGTGTTCTCACACTCACTGTCGACATTGTGAGG GAAGCGTGTTCTCACGCTCACTGTCGACATTGTAAACCTGAGGGAAGCGT GTTCTCGCGCTCACTGTCGACGTTGCGAGGGAAGCGTGTTTTCACACTCA CTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCAACGT AAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACGTTGTAAACCTG AGGGAAGCGTGTTCTCACGCTCGCTGTCGACGTTGTAAACCTGAGGGAAG CGTGTTCTCACGCTCGCTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCA CGCTCACTGTCGACGTTGTAAACCTGAGGGAAGCGTGTTCTCACGCTCAC TGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACATT GTAAACCTGAGGGAAGCGTGTTCTCGCGCTCACTGTCGACGTTGTAAACC TGAGGGAAGCGTGTTCTCACGCTCACCGTCGACGTAAACCTGAGGGAAGC GTGTTCTCTCACTGTCAACTTTGCAAGGGAAGCGTGTTCTC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79473629	G G	GTTGCAAG others(710): Show GTTGCAAGGGAAGCGTGTTCTCACACTCACTGTCGACGTTGTGAGGGAAG TGTATTCTCACGCTGTCGACATAAACCTGAGGGAAGCGTGTTCTCACGCT CACTGTTGACGTAAACCTGAGGGAAGTGTGTTCTCACACTGTCAACGTTG TAAACCTGAGGGAAGCGTGTTCTCACACTCACTGTCGACATTGTGAGGGA AGCGTGTTCTCACGCTCACTGTCGACATTGTAAACCTGAGGGAAGCGTGT TCTCGCGCTCACTGTCGACGTTGCGAGGGAAGCGTGTTTTCACACTCACT GTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCAACGTAA ACCTGAGGGAAGCGTGTTCTCACGCTCACTGTTGACGTTGTAAACCTGAG GGAAGCGTGTTCTCACGCTCGCTGTCGACGTTGTAAACCTGAGGGAAGCG TGTTCTCACGCTCGCTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACG CTCACTGTCGACGTTGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTG TCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACATTGT AAACCTGAGGGAAGCGTGTTCTCGCGCTCACTGTCGACGTTGTAAACCTG AGGGAAGCGTGTTCTCACGCTCACCGTCGACGTAAACCTGAGGGAAGCGT GTTCTCTCACTGTCAACT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0009 a0001c0018t0009	a0001c0018t0009g0176 a0001c0018t0009g0176	1	322	0.0031	717	c.209 others(736): Show c.2092+6068_2092+6069insACACTCACTGTCGACGTTGTGAGGGA AGTGTATTCTCACGCTGTCGACATAAACCTGAGGGAAGCGTGTTCTCACG CTCACTGTTGACGTAAACCTGAGGGAAGTGTGTTCTCACACTGTCAACGT TGTAAACCTGAGGGAAGCGTGTTCTCACACTCACTGTCGACATTGTGAGG GAAGCGTGTTCTCACGCTCACTGTCGACATTGTAAACCTGAGGGAAGCGT GTTCTCGCGCTCACTGTCGACGTTGCGAGGGAAGCGTGTTTTCACACTCA CTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCAACGT AAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTTGACGTTGTAAACCTG AGGGAAGCGTGTTCTCACGCTCGCTGTCGACGTTGTAAACCTGAGGGAAG CGTGTTCTCACGCTCGCTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCA CGCTCACTGTCGACGTTGTAAACCTGAGGGAAGCGTGTTCTCACGCTCAC TGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACATT GTAAACCTGAGGGAAGCGTGTTCTCGCGCTCACTGTCGACGTTGTAAACC TGAGGGAAGCGTGTTCTCACGCTCACCGTCGACGTAAACCTGAGGGAAGC GTGTTCTCTCACTGTCAACTTTGCAAGGGAAGCGTGTTCTC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NLRP8_chr19_55942832_55993629	55993491	C C	CCCCCCTC others(710): Show CCCCCCTCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0016 a0000c0004t0016	a0000c0004t0016g0216 a0000c0004t0016g0216	1	350	0.0029	717	c.55 others(728): Show c.5578_*5579insCCCCCTCTCCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCCCCTCCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC CCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4863		chr19	TogoVar
NRXN3_chr14_78165373_79873291	79257520	G G	GTGGTGGT others(710): Show GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTGGTGGTGATGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGG TGGTGGTGGTAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGATGGTAATGATGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTGGTGGTG ATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTAATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTAATGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0017 a0001c0009t0003g0017	1	24	0.0417	717	c.326 others(740): Show c.3263-209670_3263-209669insAATGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGT GGTGGTAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTG GTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGATGGTAATGATGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTA ATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT AATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
PIAS4_chr19_4002736_4044386	4012047	G G	GGGTGTGG others(710): Show GGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGG GGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGG GTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGG GGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGG GTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGG GGTGTGGAGGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGT GTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTTTGGTG TGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGT GTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGG TGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGG GTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGG GGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0235 a0001c0007t0001g0235	1	334	0.0030	717	c.28- others(730): Show c.28-861_28-860insTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGG GTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTTTGG TGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGG GTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGG GGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGA GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
RASA3_chr13_113972783_114137623	114120114	C C	CCTTCTCT others(710): Show CCTTCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAG GCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAGGGCCC CTCCCTCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCC AGGCGTCGATCAAGTCCCCCCCTTCTCTCCAGCCAGGCGTCGATCAGGGC CCCTCCCTCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAG CCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAAG TCCCCCCCTTCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCC AGCCAGGCGTCGATCAGGGCCCCCCTCCCCTCTCCAGCCAGGCGTCGATC AGGGCCCCCCTCCCCTCTCCAGCCAGGCGTCGATCAAGTCCCCCCCTTCT CTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGGCGTCG ATCAAGTCCCCCCCTTCTCTCCAGCCAGGCGTCGATCAGGGCCCCCCCTC CCTCTCTCCAGCCAGGCGTCGATCAGGGCCCCCCCTCCCTCTCTCCAGCC AGGCGTCGATCAGCGCCCCCCTCCCCTCTCCAGCCAGGCGTCGATCAGCG CCCCCCTCCCCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCC AGCCAGGCGTCGATCAAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	67	0.0149	717	c.55+ others(734): Show c.55+12320_55+12321insCTTGATCGACGCCTGGCTGGAGAGAGGG AGGGGCCCTGATCGACGCCTGGCTGGAGAGGGGAGGGGGGCGCTGATCGA CGCCTGGCTGGAGAGGGGAGGGGGGCGCTGATCGACGCCTGGCTGGAGAG AGGGAGGGGGGGCCCTGATCGACGCCTGGCTGGAGAGAGGGAGGGGGGGC CCTGATCGACGCCTGGCTGGAGAGAAGGGGGGGACTTGATCGACGCCTGG CTGGAGAGAGGGAGGGGCCCTGATCGACGCCTGGCTGGAGAGAAGGGGGG GACTTGATCGACGCCTGGCTGGAGAGGGGAGGGGGGCCCTGATCGACGCC TGGCTGGAGAGGGGAGGGGGGCCCTGATCGACGCCTGGCTGGAGAGAGGG AGGGGCCCTGATCGACGCCTGGCTGGAGAGAAGGGGGGGACTTGATCGAC GCCTGGCTGGAGAGAGGGAGGGGCCCTGATCGACGCCTGGCTGGAGAGAG GGAGGGGCCCTGATCGACGCCTGGCTGGAGAGAGGGAGGGGCCCTGATCG ACGCCTGGCTGGAGAGAAGGGGGGGACTTGATCGACGCCTGGCTGGAGAG AGGGAGGGGCCCTGATCGACGCCTGGCTGGAGAGAGGGAGGGGCCCTGAT CGACGCCTGGCTGGAGAGAGGGAGGGGCCCTGATCGACGCCTGGCTGGAG AGAGGGAGGGGCCCTGATCGACGCCTGGCTGGAGAGAAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RFX2_chr19_5988164_6115500	6070181	A A	ATGGGATG others(710): Show ATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGG GATGGGATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATG GGATGTGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGG ATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTA GGATGGGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGA TGTGGATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGG GATGTGGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGA TGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGT GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGTGGATAGGGTGGGATGAAACGTGGATGGGATGGAAAGGG ATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGAT GTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGG AAAGGGATGTGGATGGAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	308	0.0033	717	c.-8- others(734): Show c.-8-22678_-8-22677insCTCCATCCACATCCCTTTCCATCCCATC CACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCC CATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCAT CCCATCCACGTTTCATCCCACCCTATCCACATCCCATCCCATCCACATCC CATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATC CCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCA TCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATCC CATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCATC CCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTCCA TCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATCC ACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCTCA TTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCATCC CATCCCATCTACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCACATCCCATCCCA	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070181	A A	ATGGGATG others(710): Show ATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGG GATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATGTGGAT GGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGGGTGGG ATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGGATG TGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATAGA GTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATA GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGGGATGTGGATGAGATGGGATGGGATGGGATGGGATGGGA TGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGTGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGTGGATAGGGTGGGATGAAACGTGGATGGGATGGAAAGGG ATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGAT GTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGG AAAGGGATGTGGATGGAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0038 a0001c0004t0001g0038	1	308	0.0033	717	c.-8- others(734): Show c.-8-22678_-8-22677insCTCCATCCACATCCCTTTCCATCCCATC CACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCC CATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCAT CCCATCCACGTTTCATCCCACCCTATCCACATCCCATCCCATCCACATCC CATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCC ACATCCCATCCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCA TCCCATCCCATCCCATCTCATCCACATCCCATCCCATCCCATCCCATCCA CATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATC CCATCCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACA TCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCC TACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCAT CCACATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATCC CATTCCATCCCATCCCATCTACATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCACATCCCATCCCA	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(710): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGTGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGG GGGTGAGTGGGGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGG GGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGG TGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGG TGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTG GGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGT GGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGG GGGTGAGTGGGGTGAGTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0032 a0002c0002t0032	a0002c0002t0032g0001 a0002c0002t0032g0001	2	292	0.0069	717	c.261 others(734): Show c.261+1222_261+1223insAGTGTGGGGGGTGAGTGGGGTGAGTGTG GGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGG TGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTG TGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTG TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTGGGGG GTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGATGGG GTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGT GGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAG TGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGGGTGAGTGGGG TGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTG GGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(710): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTTCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCT CCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCCTCCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCC CTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCATCCCCTCCCCTCCCCCCTCCCCACCCCTCCCCTCCCCTCCCCCCTC CCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCCTCCCCTCC CCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCC CCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCT CCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0148 a0001c0001t0023g0148	1	150	0.0067	717	c.77- others(734): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCT TCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCCTCCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTCCCCTCCCCTCC CCCCTCCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCT CCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(710): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTTCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCT CCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCCTCCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCC CTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCATCCCCTCCCCTCCCCCCTCCCCACCCCTCCCCTCCCCTCCCCCCTC CCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCCTCCCCTCC CCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCC CCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCT CCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0115 a0001c0001t0007g0115	1	158	0.0063	717	c.22+ others(734): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCT TCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCCTCCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTCCCCTCCCCTCC CCCCTCCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCT CCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar

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