Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ADCK5_chr8_144369047_144398242	144380654	C C	CAGGATTA others(965): Show CAGGATTATGGGCTGGGTGTAGAAACAGATGTGTGCTCAGGCGCCTGCTG CACTCAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACTT CCCGCAGTCAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGC ACCTGCTGCACTAAGGATTATGGGCCGGGTGCAGAAACAGATGTGCGATC AGGCACCTCCCGCAGTCAGGATTATGTGCCGGGTGTAGAAACAGATGTGT GCTCAGGCACCTCCCGCAGTCAGAATTATGGGCCGGGTGTAGAAACAGAT GTGTGCTCAGGCACCTGCTGCACTAAGGATTATAAGCCGGGTGTAGAAAC AGATGTGTGCTCAGGCACCTGCGGCACTCAGCATTATGGGCGGGGTGTAG AAACAGATGTGTGCTCAGACGCCTCCCGCACTCAGGATTATGGGCCGGGT GCAGAAACAGATGTGTGCTCAGGCACCTGCCGCACTCAGGATTATGGGCC GGGTGTAGAAAGAGATGTGTGCTCAGGCGCCTCCCGCAGTCAGGATTATG GGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCCGCACTAAGGAT TATGGGCTGGGTGTAGAAACAGATGTGTGCTCAGGCACCTCCCGCAGTCA GGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTGCA CTAAGGATTATGGGCTGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGC TGCACTCAGGATTATGGGCTGGGTGTAGAAGCAGATGTGTGCTCAGGCAC CTGCCCCACTAAGGATTATGGGCTGGGTGTAGAAACAGATGTGTGCTCAG GCACCTGCTGCACTCAGGATTATGGGCTGGGTGTAGAAGCAGATGTGTGC TCAGGCACCTGCCCCACTAAGGATTATGGGCTGGGTGTAGAAACAGATGT GTGCTCAGGCACCTGCCGCACTA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	346	0.0029	972	c.116 others(989): Show c.116+1205_116+1206insGCCTGCTGCACTCAGGATTATGGGCCGG GTGTAGAAACAGATGTGTGCTCAGGCACTTCCCGCAGTCAGGATTATGGG CCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTGCACTAAGGATTA TGGGCCGGGTGCAGAAACAGATGTGCGATCAGGCACCTCCCGCAGTCAGG ATTATGTGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTCCCGCAGT CAGAATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTG CACTAAGGATTATAAGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCT GCGGCACTCAGCATTATGGGCGGGGTGTAGAAACAGATGTGTGCTCAGAC GCCTCCCGCACTCAGGATTATGGGCCGGGTGCAGAAACAGATGTGTGCTC AGGCACCTGCCGCACTCAGGATTATGGGCCGGGTGTAGAAAGAGATGTGT GCTCAGGCGCCTCCCGCAGTCAGGATTATGGGCCGGGTGTAGAAACAGAT GTGTGCTCAGGCACCTGCCGCACTAAGGATTATGGGCTGGGTGTAGAAAC AGATGTGTGCTCAGGCACCTCCCGCAGTCAGGATTATGGGCCGGGTGTAG AAACAGATGTGTGCTCAGGCACCTGCTGCACTAAGGATTATGGGCTGGGT GTAGAAACAGATGTGTGCTCAGGCACCTGCTGCACTCAGGATTATGGGCT GGGTGTAGAAGCAGATGTGTGCTCAGGCACCTGCCCCACTAAGGATTATG GGCTGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTGCACTCAGGAT TATGGGCTGGGTGTAGAAGCAGATGTGTGCTCAGGCACCTGCCCCACTAA GGATTATGGGCTGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCCGCA CTAAGGATTATGGGCTGGGTGTAGAAACAGATGTGTGCTCAGGC		ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRE2_chr19_14727392_14783560	14763755	C C	CCTCTCCT others(965): Show CCTCTCCTCCTCCTCCTCTTGTCCACCACCTCCTCCTCTCCTCCTCCTCT TCTGCTCCTCTTCCTCCTCTCCTCCTCCTCTCCACCTCCTCCTCCCCTTC TCCTCCTCCCCCTCCTCCTCCCCTCTCCTCCTCCCCCTCTCCTCCTTCCC CTCTCCTCCTCCCCCCTCCTCCTCCCCCTCTCCTCCTCCCCCTCTCCTCC TTCCCCTCTCCTCCTCCCCCATCCTCCTCCCCCTCTCCTCCTCCCCCTCC CCTCCTCCCCCTCTCCTCCTCCCCCTCCTCCTCCTCTCCTCCTCCTCCTC TCCTCCTCCTCCTCTCCTCCTCCTCTTTTCCTCCTCTCCTCCTCTCCTCT TCCTCTCCTTCTCCTCCCCTCATCCTGCTCCTCTCGTCCTCCTCTCCTCC TCCTTCTCTCCTCTTCCTGCTCCTCTCGTCCTCCTCTCCTCCTCCTCTCC TCTTCCTCTCCTGCCCCTCCTCCTCTCCTGCCCCTCCTCCTCTCCTCCCC CTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCCCTTCCTCCTCCTCTTCT CCTCCTCCTCTCCTCTTCCTCTCCTCCTCCTCTCTTCCTCCTCTCCTCCT CCTCTTCTTTCCTCTCCTCCTCCTCTCTTCCTCTCTCCTCCTCCTCTCCT CCCTCTCTCTCCTCCTCCTCTTCCTCTCCTCCTCCTCTCCTCTTCCTCTC CTCCTCCTCTCTCCTCTTTCCTCATCCCTCCTCCTTCCCTCTCCTCTGCC TCCTCCTCTCCTCCTCCTTGTCTCCTCCTCCTACCCTCCTCCTTCCCTCT TCCTCCTCTCCTCCTCCTCTTCTTTTCCTCCTCTCCTCCTTCTTGTCTCC TCCCCGTCCTCTTCTCCTTCCCTCTTCCTCCTCCACTCCTCCTCCTCTCC TCCTTCTCCTCCTCCTCCTCTCCTCCTTCTTCTCTCCTCCTCCACTCCTC CTCTTCCTCCTCTCCTCCTCCTT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0013 a0003c0003t0002g0013	1	218	0.0046	972	c.108 others(989): Show c.1084+677_1084+678insAAGGAGGAGGAGAGGAGGAAGAGGAGGA GTGGAGGAGGAGAGAAGAAGGAGGAGAGGAGGAGGAGGAGAAGGAGGAGA GGAGGAGGAGTGGAGGAGGAAGAGGGAAGGAGAAGAGGACGGGGAGGAGA CAAGAAGGAGGAGAGGAGGAAAAGAAGAGGAGGAGGAGAGGAGGAAGAGG GAAGGAGGAGGGTAGGAGGAGGAGACAAGGAGGAGGAGAGGAGGAGGCAG AGGAGAGGGAAGGAGGAGGGATGAGGAAAGAGGAGAGAGGAGGAGGAGAG GAAGAGGAGAGGAGGAGGAGAGGAAGAGGAGGAGGAGAGAGAGGGAGGAG AGGAGGAGGAGAGAGGAAGAGAGGAGGAGGAGAGGAAAGAAGAGGAGGAG GAGAGGAGGAAGAGAGGAGGAGGAGAGGAAGAGGAGAGGAGGAGGAGAAG AGGAGGAGGAAGGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGGGGA GGAGAGGAGGAGGGGCAGGAGAGGAGGAGGGGCAGGAGAGGAAGAGGAGA GGAGGAGGAGAGGAGGACGAGAGGAGCAGGAAGAGGAGAGAAGGAGGAGG AGAGGAGGACGAGAGGAGCAGGATGAGGGGAGGAGAAGGAGAGGAAGAGG AGAGGAGGAGAGGAGGAAAAGAGGAGGAGGAGAGGAGGAGGAGGAGAGGA GGAGGAGGAGAGGAGGAGGAGGGGGAGGAGGAGAGGGGGAGGAGGGGAGG GGGAGGAGGAGAGGGGGAGGAGGATGGGGGAGGAGGAGAGGGGAAGGAGG AGAGGGGGAGGAGGAGAGGGGGAGGAGGAGGGGGGAGGAGGAGAGGGGAA GGAGGAGAGGGGGAGGAGGAGAGGGGAGGAGGAGGGGGAGGAGGAGAAGG GGAGGAGGAGGTGGAGAGGAGGAGGAGAGGAGGAAGAGGAGCAGAAGAGG AGGAGGAGAGGAGGAGGTGGTGGACAAGAGGAGGAGGAGGAGAG		ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	11/20						chr19	TogoVar
AHRR_chr5_316714_443285	318049	C C	CCCTCCCC others(965): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTC CACCTCCCCCCGCACCCTGCACCTCCCCCCGCACCCTGCACCTCCCACCC TTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTC CCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCC CGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACC TCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTC TCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCAC CTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCCAC CTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACCTCCCACCCTT ACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCTGCATCTCCCC CAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCC CCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGC ACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACC CTCCATCTGCCCCCAACCCTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0007 a0007c0007t0007	a0007c0007t0007g0247 a0007c0007t0007g0247	1	268	0.0037	972	c.-37 others(983): Show c.-3781_-3780insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCCCCGCACC CTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCC CTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCA CCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTC CCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCA CCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCC CTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC CCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCT GCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCC ACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTC TCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACC TCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCT TTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCA		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding					3664		chr5	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(965): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATATTAT ATACATATAATATATATTCTCATATATATTATATATACTCATATATATAA TATATATTCTCATATATATATTATATATTCTCATATATATAGTATATATA TTCTCATATATAATATATATTCTCATATATATAATATATACTCATATATT ATATATATTCTCATATATTATATATATACTCATATATAATGTATATATTC TAATATATAATATATATTTTCTCATTTATATAATATATATTCTCATATAT AATATATATTCTCATATATGACATATTATATATATTCTCATATATATTAT ATATTCTCATATATATTATATATTCTCATATATAATATATATTCTCATAT AATATATTATATATTCTCATATAATATATTATATATTCTCATATAATATA TTATAAATTCTCATATAATATATTATATATTCTCATATATAATATATTAT ATATTCTCATATATAATATATTATATATTCTCATATATAATATATTATAT ATTCTCATATATAATATATTATATATGCTCATATATAATATATTATATAT GCTCATATATAATATATTATATATGCTCATATATAATATATTATATATGC TCATATATAATATATTATATATGCTCATATATAATATATTATATATGCTC ATATATAATATATTATATATGCTCATATATAATATATTATATATGCTCAT ATATAATATATTATATATGCTCATATATAATATATTATATATGCTCATAT ATAATATATTATGTATGCTCATATATAATATATTATGTATGCTCATATAT AATATATTATGTATGAGCATATATAATATATTATGTATGAGCATATATAA TATATTATGTATGAGCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0000 a0001c0001t0066g0000	1	416	0.0024	972	c.10 others(985): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGCTCATACATAATATATTATATATGAG CATACATAATATATTATATATGAGCATACATAATATATTATATATGAGCA TATATAATATATTATATATGAGCATATATAATATATTATATATGAGCATA TATAATATATTATATATGAGCATATATAATATATTATATATGAGCATATA TAATATATTATATATGAGCATATATAATATATTATATATGAGCATATATA ATATATTATATATGAGCATATATAATATATTATATATGAGCATATATAAT ATATTATATATGAGCATATATAATATATTATATATGAGAATATATAATAT ATTATATATGAGAATATATAATATATTATATATGAGAATATATAATATAT TATATATGAGAATATATAATATATTATATGAGAATTTATAATATATTATA TGAGAATATATAATATATTATATGAGAATATATAATATATTATATGAGAA TATATATTATATATGAGAATATATAATATATATGAGAATATATAATATAT ATGAGAATATATATAATATGTCATATATGAGAATATATATTATATATGAG AATATATATTATATAAATGAGAAAATATATATTATATATTAGAATATATA CATTATATATGAGTATATATATAATATATGAGAATATATATAATATATGA GTATATATTATATATATGAGAATATATATTATATATGAGAATATATATAC TATATATATGAGAATATATAATATATATATGAGAATATATATTATATATA TGAGTATATATAATATATATGAGAATATATATTATATGTATATAATATAT ATAATATATAATATATAATATATACATATATACATATAATATATAAACAT ATAATATATAATATATACATGTAATATATATTATATATAT		AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding					2579		chr13	TogoVar
ARHGEF18_chr19_7343937_7477478	7450694	G G	GTCCGTTT others(965): Show GTCCGTTTCTGAGATGTTAATACGGGATCTTGCTGTCCGTTTCCAAGATG TTAATGCGGGATCTTGCTTTCCGTTTCCGTTTCCAAGATGTTAATACGGG ATCTTGCTGTCCATTTCCGAGATGTTAATACAGGATCTTGCTTTCTGTTT CCATTTCCGAGATGTTAATGTGGATCTTGCTATCTGTTTCCGAGACATTA ATATGGGATCTTGCTTTCCGTTTCCATTTCCAAGATGTTAATACGGGATC TTGCTGTCCATTTCCGAGATGTGAATGCAGGATCTTGCTGTCCGTTTCTG AGATGTTAATACGGGATCTTGCTGTCCGTTTCCAAGATGTTAATGCAGGA TCTTGCTTTCCGTTTCCGTTTCCGAGATGTTAATATGGGATCTTGCTGTC CGTTTCCGAGATGTTAATACAGGATCTTGCTTTCTGTTTCCATTTCCGAG ATGTTAATGTGGATCTTGCTTTCCATTTCCGAGATGTTAATACGGGATCT TGCTGTCCCCGAGATGTTAATACGGGATCTTGCTGTCCCCGAGATGTTAA TACGGGATCTTGCTGTCCGTTTCCGAGATGTTAACACGGGATCTTGCTGT CCGTTTCCGAGATGTTAACACGGGATCCTGCTGTCCGTTTCCGAGATGTT AACGCGGGATCCTGCTTTCCGTTTCCGAGATGTTAACGCGGGATCCTGCT TTCCGTTTCCGAGATGTTAACGCGGGATCCTGCTGTCCGTTTCCGAGATG TTAACGCGGGATCCTGCTGTCCGTTTCCGAGATGTTAACGCGGGATCCTG CTGTCCGTTTCCGAGATGTTAACGCGGGATCCTGCTGTCCGTTTCCGAGA TGTTAACGCGGGATCCTGCTGTCCGTTTCCGAGATGTTAACGCGGGATCC TGCTGTCCGTTTCCGAGATGTTAACGCGGGATCCTGCTGTCCGTTTCCGA GATGTTAACGCGGGATCCTGCTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0006 a0001c0021t0006	a0001c0021t0006g0088 a0001c0021t0006g0088	1	298	0.0034	972	c.173 others(989): Show c.1738-447_1738-446insTGAGATGTTAATACGGGATCTTGCTGTC CGTTTCCAAGATGTTAATGCGGGATCTTGCTTTCCGTTTCCGTTTCCAAG ATGTTAATACGGGATCTTGCTGTCCATTTCCGAGATGTTAATACAGGATC TTGCTTTCTGTTTCCATTTCCGAGATGTTAATGTGGATCTTGCTATCTGT TTCCGAGACATTAATATGGGATCTTGCTTTCCGTTTCCATTTCCAAGATG TTAATACGGGATCTTGCTGTCCATTTCCGAGATGTGAATGCAGGATCTTG CTGTCCGTTTCTGAGATGTTAATACGGGATCTTGCTGTCCGTTTCCAAGA TGTTAATGCAGGATCTTGCTTTCCGTTTCCGTTTCCGAGATGTTAATATG GGATCTTGCTGTCCGTTTCCGAGATGTTAATACAGGATCTTGCTTTCTGT TTCCATTTCCGAGATGTTAATGTGGATCTTGCTTTCCATTTCCGAGATGT TAATACGGGATCTTGCTGTCCCCGAGATGTTAATACGGGATCTTGCTGTC CCCGAGATGTTAATACGGGATCTTGCTGTCCGTTTCCGAGATGTTAACAC GGGATCTTGCTGTCCGTTTCCGAGATGTTAACACGGGATCCTGCTGTCCG TTTCCGAGATGTTAACGCGGGATCCTGCTTTCCGTTTCCGAGATGTTAAC GCGGGATCCTGCTTTCCGTTTCCGAGATGTTAACGCGGGATCCTGCTGTC CGTTTCCGAGATGTTAACGCGGGATCCTGCTGTCCGTTTCCGAGATGTTA ACGCGGGATCCTGCTGTCCGTTTCCGAGATGTTAACGCGGGATCCTGCTG TCCGTTTCCGAGATGTTAACGCGGGATCCTGCTGTCCGTTTCCGAGATGT TAACGCGGGATCCTGCTGTCCGTTTCCGAGATGTTAACGCGGGATCCTGC TGTCCGTTTCCGAGATGTTAACGCGGGATCCTGCTTTCCGTTTC		ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	15/28					INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF18_chr19_7343937_7477478	7450694	G G	GTCCGTTT others(965): Show GTCCGTTTCTGAGATGTTAATACGGGATCTTGCTGTCCGTTTCCAAGATG TTAATGCGGGATCTTGCTTTCCGTTTCCGTTTCCAAGATGTTAATACGGG ATCTTGCTGTCCATTTCCGAGATGTTAATACAGGATCTTGCTTTCTGTTT CCATTTCCGAGATGTTAATGTGGATCTTGCTATCTGTTTCCGAGACATTA ATATGGGATCTTGCTTTCCGTTTCCATTTCCAAGATGTTAATACGGGATC TTGCTGTCCATTTCCGAGATGTGAATGCAGGATCTTGCTGTCCGTTTCTG AGATGTTAATACGGGATCTTGCTGTCCGTTTCCAAGATGTTAATGCAGGA TCTTGCTTTCCGTTTCCGTTTCCGAGATGTTAATATGGGATCTTGCTGTC CGTTTCCGAGATGTTAATACAGGATCTTGCTTTCTGTTTCCATTTCCGAG ATGTTAATGTGGATCTTGCTTTCCATTTCCGAGATGTTAATACGGGATCT TGCTGTCCCCGAGATGTTAATACGGGATCTTGCTGTCCCCGAGATGTTAA TACGGGATCTTGCTGTCCGTTTCCGAGATGTTAACACGGGATCTTGCTGT CCGTTTCCGAGATGTTAACACGGGATCTTGCTGTCCGTTTCCGAGATGTT AACGCGGGATCCTGCTTTCCGTTTCCGAGATGTTAACGCGGGATCCTGCT TTCCGTTTCCGAGATGTTAACGCGGGATCCTGCTGTCCGTTTCCGAGATG TTAACGCGGGATCCTGCTGTCCGTTTCCGAGATGTTAACGCGGGATCCTG CTGTCCGTTTCCGAGATGTTAACGCGGGATCCTGCTGTCCGTTTCCGAGA TGTTAACGCGGGATCCTGCTGTCCGTTTCCGAGATGTTAACGCGGGATCC TGCTGTCCGTTTCCGAGATGTTAACGCGGGATCCTGCTGTCCGTTTCCGA GATGTTAACGCGGGATCCTGCTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA19000.hp1 HG03834.hp1 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0019 a0002c0036 a0001c0019 a0002c0036	a0001c0019t0006 a0002c0036t0006 a0001c0019t0006 a0002c0036t0006	a0001c0019t0006g0063 a0002c0036t0006g0132 a0001c0019t0006g0063 a0002c0036t0006g0132	2	298	0.0067	972	c.173 others(989): Show c.1738-447_1738-446insTGAGATGTTAATACGGGATCTTGCTGTC CGTTTCCAAGATGTTAATGCGGGATCTTGCTTTCCGTTTCCGTTTCCAAG ATGTTAATACGGGATCTTGCTGTCCATTTCCGAGATGTTAATACAGGATC TTGCTTTCTGTTTCCATTTCCGAGATGTTAATGTGGATCTTGCTATCTGT TTCCGAGACATTAATATGGGATCTTGCTTTCCGTTTCCATTTCCAAGATG TTAATACGGGATCTTGCTGTCCATTTCCGAGATGTGAATGCAGGATCTTG CTGTCCGTTTCTGAGATGTTAATACGGGATCTTGCTGTCCGTTTCCAAGA TGTTAATGCAGGATCTTGCTTTCCGTTTCCGTTTCCGAGATGTTAATATG GGATCTTGCTGTCCGTTTCCGAGATGTTAATACAGGATCTTGCTTTCTGT TTCCATTTCCGAGATGTTAATGTGGATCTTGCTTTCCATTTCCGAGATGT TAATACGGGATCTTGCTGTCCCCGAGATGTTAATACGGGATCTTGCTGTC CCCGAGATGTTAATACGGGATCTTGCTGTCCGTTTCCGAGATGTTAACAC GGGATCTTGCTGTCCGTTTCCGAGATGTTAACACGGGATCTTGCTGTCCG TTTCCGAGATGTTAACGCGGGATCCTGCTTTCCGTTTCCGAGATGTTAAC GCGGGATCCTGCTTTCCGTTTCCGAGATGTTAACGCGGGATCCTGCTGTC CGTTTCCGAGATGTTAACGCGGGATCCTGCTGTCCGTTTCCGAGATGTTA ACGCGGGATCCTGCTGTCCGTTTCCGAGATGTTAACGCGGGATCCTGCTG TCCGTTTCCGAGATGTTAACGCGGGATCCTGCTGTCCGTTTCCGAGATGT TAACGCGGGATCCTGCTGTCCGTTTCCGAGATGTTAACGCGGGATCCTGC TGTCCGTTTCCGAGATGTTAACGCGGGATCCTGCTTTCCGTTTC		ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	15/28					INFO_REALIGN_3_PRIME	chr19	TogoVar
ATP9B_chr18_79064394_79383283	79309034	C C	CGGAGGAG others(965): Show CGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCGGAGGAGTGATCC CCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCCCCAGCAGGTAGAAG GTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGG AGTGATCCCCAGCAGGTAGAAGGTCAGGGGCGGAGGAGTGATCCCCAGCA GGTAGAAGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGG GATGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGAT CCCCAGCAGGTAGAAGGTCAGGGGCTGAGTAGTGATCCCCAGCAGGTAGA AGGTCAGGGGCTGAGGACTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGA GGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAG CAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCA GGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTG ATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCTCAGCAGGTA GAAGGTCAGGGGCTGAGGACTGATCCCCAGCAGGTAGAAGGTCAGGGGTG GAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCC AGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGT CAGGGGTGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAG TGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGG TAGAAGGTCAGGGGTGGTGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGG TTGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCT CCAGCAGGTAGAAGGTCAGGGGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0005 a0005c0009t0005	a0005c0009t0005g0168 a0005c0009t0005g0168	1	298	0.0034	972	c.177 others(991): Show c.1773+1800_1773+1801insGGAGGAGTGATCCCCAGCAGGTAGAA GGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAG GAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGC AGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAG GGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCGGAGGAGTGA TCCCCAGCAGGTAGAAGGTCAGGGATGGAGGAGTGATCCCCAGCAGGTAG AAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTG AGTAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGACTGATCCCCA GCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTC AGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGT GATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGT AGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGC TGAGGAGTGATCCTCAGCAGGTAGAAGGTCAGGGGCTGAGGACTGATCCC CAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGG TCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGA GTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCCCCAGCAG GTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGG GTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTGGTGGAGTGATC TCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCTCCAGCAGGTAGAA GGTCAGGGGTTGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGT		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29						chr18	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(965): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTC CAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCCA CCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGC CCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGT GCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCA GCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	972	c.36 others(983): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCCGTCCAGGCCCCGACGCGTGCA GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGC AGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC GGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGAC GCGTGCGGCCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTC CGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					3464		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185756	G G	GGCGTGCG others(965): Show GGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGAC GGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGT AGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGT GAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACG TGGGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGC GGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGG AGGCGTGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCAGGTGAGTA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0062 a0062	a0062c0072 a0062c0072	a0062c0072t0001 a0062c0072t0001	a0062c0072t0001g0210 a0062c0072t0001g0210	1	338	0.0030	972	c.300 others(989): Show c.300-9215_300-9214insCGTGCGTAGGGGCCGGAGGCGGGGTGTG TATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGG TACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGG AGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGG CCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTA GGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTG CATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAG CGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGG TCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCG TAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCG TGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCG TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAG		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC88C_chr14_91266323_91422820	91293498	A A	ACCCGCCA others(965): Show ACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACCTTCCC ATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCAC CTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCC GCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCC TCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTC CCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTC ACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCA CAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCAC CCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCAT CCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCT TCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGC TCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGC CACAGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCTACCTTCCTGTCC CCTCACCTGCCACGGCCTACCTTCCTGCCCCCTCACCTGCCACGGCCCAC CTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGC CACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCC CCTCGCCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCT TCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGTCCCCTCGCCTGCCA CGGCCCACCTTCCTGTCCCCTCG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0263 a0005c0010t0001g0263	1	284	0.0035	972	c.411 others(989): Show c.4112+674_4112+675insCGAGGGGACAGGAAGGTGGGCCGTGGCA GGCGAGGGGACAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTG GGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGCGAGGGGGCA GGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGG CGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGG CCGTGGCAGGTGAGGGGGCAGGAAGGTAGGCCGTGGCAGGTGAGGGGACA GGAAGGTAGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCTGTGGCAGG TGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGT GGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTG AGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGG AAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAG GATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCG GGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCT GTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGG TGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATG GGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTG AGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGG CGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAG CTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAA GGTGAGCTGTGGCACGTGAGGATGGGAAAGTGAGCTGTGGCGGG		CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29						chr14	TogoVar
CEP72_chr5_607340_658553	650650	T T	TGTGACTG others(965): Show TGTGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGTGTGACTGTG AGGGGTGACTGTGAGGCGTGGACTGTGAGGGGTGACTGTGAGGTGTGACT GTGAGGTGTGACCACGAGGCATGGACTGTGAGATGGGACTGTGAGGTATG TGACCATGGGGTGTGGGCTGTGAGGTATCAACCCTGAGTGTGAGGTGTGA CTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGTGTGACTGTGAGGTG TGACTGTGAGGTGTGACTGTGAGGTGTGGGCTGTGAGGTGTGAATGTGAG GCGTGACTGTGAGGCGTGACTGTGAGGCGTGACTGTGAGGTGTGGACTGT GAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGTGTGAC TGTGAGGTGTGGACTGTGATGTGTGACTGTGAGGTGTGGACTGTGAGGTG TGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCATGACTGAGGC GTGACTGTGAGGCGTGACTGTGAGGCGTGGACTGTGAGGCGTGACTGTGA GGTGTGACTGTGAGGTGTGCCTGTGAGGCATGGACTGTGAGGCGTGGACT GTGAGGGGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTG GACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGC GTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGACTGTGA GGCGTGACTGTGAGGCGTGACTGAGGTGTGGACTGTGAGGTGGGACTGTG AGGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGT GAGGCGTGACTGTGAGGCGTGACTGTGAGGCGTGACTGAGGCGTGGAGTG TGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGG ACTGTGAGGCGTGACTGTGAGGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	91	0.0110	972	c.177 others(991): Show c.1779-2326_1779-2325insTGTGACTGTGAGGTGTGGACTGTGAG GTGTGACTGTGAGGGGTGACTGTGAGGCGTGGACTGTGAGGGGTGACTGT GAGGTGTGACTGTGAGGTGTGACCACGAGGCATGGACTGTGAGATGGGAC TGTGAGGTATGTGACCATGGGGTGTGGGCTGTGAGGTATCAACCCTGAGT GTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGTGTG ACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGGGCTGTGAGGT GTGAATGTGAGGCGTGACTGTGAGGCGTGACTGTGAGGCGTGACTGTGAG GTGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGGACTG TGAGGTGTGACTGTGAGGTGTGGACTGTGATGTGTGACTGTGAGGTGTGG ACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGC ATGACTGAGGCGTGACTGTGAGGCGTGACTGTGAGGCGTGGACTGTGAGG CGTGACTGTGAGGTGTGACTGTGAGGTGTGCCTGTGAGGCATGGACTGTG AGGCGTGGACTGTGAGGGGTGACTGTGAGGTGTGACTGTGAGGCGTGGAC TGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGT GACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGG CGTGACTGTGAGGCGTGACTGTGAGGCGTGACTGAGGTGTGGACTGTGAG GTGGGACTGTGAGGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGA GGTGTGACTGTGAGGCGTGACTGTGAGGCGTGACTGTGAGGCGTGACTGA GGCGTGGAGTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACT GTGAGGCGTGGACTGTGAGGCGTGACTGTGAGGCGTGACTGTGAGG		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(965): Show TCTCTCCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCT CTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCC CTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTC TCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCC CTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCC CTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCACGTCCTCTCT CTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCC TCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTCT CTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCT CCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCT CTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCT CCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTCCCCTCTCCCCCTCT CTCCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCCTCTCCTCCTCTCCC TCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCCCCTCTCCCCATCTC CCTCTCCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTC CCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCA TCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCTCCCCCTCTCCTCCTC TCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATC TCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCC CTCCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	320	0.0031	972	c.380 others(989): Show c.380-7767_380-7766insCCCCCCTCTCTCCCTCTCCCTCACCTCC TCTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCC TCTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCC ATCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCC CCTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCAC ATCCTCTCTCTCCCCCTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTC CCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTC CCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTC CCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTC TCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTC GTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTG TCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTT CCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCC CTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTC CCCTCTCCCCATCTCCCTCTCCCCCCCCTTCTCCCTCTCCCACCCTCTTC CTCTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTC TCTCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCT CCCCCTCTCCTCCTCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCTC TCCCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTC TCTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(965): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCTCTCCC CTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCTCTCCCT CTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCCTGTCTC CCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCCTCTCCC CCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCTCTCTC TCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCT CCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTCTC TCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCTC CCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTC TCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTC CCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCCCCTCTC TCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCC TCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCCATCTC CCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCC CCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCAT CTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTC CCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATC TCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCC CTCCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	320	0.0031	972	c.380 others(989): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCC TCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCC CTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCT CTCTCCCCCTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCC CTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCC CCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCC CTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCT CCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCG TCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGT CCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCT CCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCC CTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTT CCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCC TCTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCT CTCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCC CCCTCTCCTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTC TCCCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTC TCTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(965): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCTCTCCC CTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCTCTCCCT CTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCCTGTCTC CCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCCTCTCCC CCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCTCTCTCT CTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCTC CTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTCTCT CTCCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCTC CCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTC TCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTC CCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCCCCTCTC TCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCC TCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCCATCTC CCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCC CCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCAT CTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTC CCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATC TCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCC CTCCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	320	0.0031	972	c.380 others(989): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCC TCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCC CTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCT CTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCC TCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCC CCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCC TCACGTCCTCTCTCTCTCCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCT CCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCG TCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGT CCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCT CCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCC CTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTT CCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCC TCTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCT CTCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCC CCCTCTCCTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTC TCCCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTC TCTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(965): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACATACTATGTATATCATGTAGTATGTATACTACTATGT ATATCATGTAGTATGTATACTACTATGTATATCATGTAGTATGTATACTA CTATGTATATCATGTAGTATGTATACTACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	448	0.0022	972	c.51+ others(987): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTATGTGGTATACATACTACATGATATACATA GTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACT ACATGATATACATAGTAGTATACATACTACATGATATACATAGTAGTATA CATACTACATGATATACATAGTAGTATACATACTACATGATATACATAGT AGTATACATACTACATGATATACATAGTATGTAGTATACATACTACATGA TATACATAGTATGTAGTATACATACTACATGATATACATTGT		COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5						chr11	TogoVar
CUL4A_chr13_113204613_113272108	113232154	G G	GTCACCAC others(965): Show GTCACCACCACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCAC CATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTG CCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCC ACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCA TTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCC CACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCAC TACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACT GTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCT GCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGC CACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	396	0.0025	972	c.513 others(989): Show c.513-1023_513-1022insTCACCACCACCCGCCCACCACCATTACT GCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACC CGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTG CCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCAC CATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTG CCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTC ACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCA TTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCC CACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCAC TACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCA CCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCT GCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACC CGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTA		CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19						chr13	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(965): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCC CCACCCCCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCAC CCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCC GCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCC ACCCCCACCCGCACCCGCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCC CCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGC ACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCAC CCTCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCC CCACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCC ACCCTCACCCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0001 a0003c0023t0001	a0003c0023t0001g0008 a0003c0023t0001g0008	1	320	0.0031	972	c.39 others(983): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG CGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTG GGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTG		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding					2482		chr20	TogoVar
ENTPD2_chr9_137043107_137059061	137050237	T T	TCCCTACC others(965): Show TCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGAC AAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCA CCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTA CCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGTT CCCAGCCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCC TGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACG ACAAAGTTCCCAGCCACCCGCCTATCCCTACCCACGACAAAGTTCCCAGC CACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCC TACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAG TTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCG CCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCA CGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCA GCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTC CCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAA AGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACC CGCCTATCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACT CACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCC CAGCCACCCGCCTATCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTG CCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTATCCCTACCCACGAC AAAGTTCCCAGCCACCCGCCTGC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	400	0.0025	972	c.102 others(987): Show c.1029+46_1029+47insGCAGGCGGGTGGCTGGGAACTTTGTCGTGG GTAGGGATAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGG GTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCGGGTGGCTGGGAACTT TGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGG GCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCGGGTGGCT GGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGT GGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGC GGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAAC TTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAA GGGCAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGG CTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTC GTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAG GCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGA ACTTTGTCGTGGGTAGGGATAGGCGGGTGGCTGGGAACTTTGTCGTGGGT AGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGT GGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTG TCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGC AGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGG GAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGG GTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGG		ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/8						chr9	TogoVar
ENTPD2_chr9_137043107_137059061	137050237	T T	TCCCTACC others(965): Show TCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGAC AAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCA CCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTA CCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGTT CCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCC TGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACG ACAAAGTTCCCAGCCACCCGCCTATCCCTACCCACGACAAAGTTCCCAGC CACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCC TACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAG TTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCG CCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCA CGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCA GCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTC CCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAA AGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACC CGCCTATCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACT CACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCC CAGCCACCCGCCTATCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTG CCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTATCCCTACCCACGAC AAAGTTCCCAGCCACCCGCCTGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	400	0.0025	972	c.102 others(987): Show c.1029+46_1029+47insGCAGGCGGGTGGCTGGGAACTTTGTCGTGG GTAGGGATAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGG GTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCGGGTGGCTGGGAACTT TGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGG GCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCGGGTGGCT GGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGT GGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGC GGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAAC TTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAA GGGCAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGG CTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTC GTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAG GCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGA ACTTTGTCGTGGGTAGGGATAGGCGGGTGGCTGGGAACTTTGTCGTGGGT AGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGT GGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTG TCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGC AGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGG GAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGG GTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGG		ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/8						chr9	TogoVar
ENTPD2_chr9_137043107_137059061	137050237	T T	TCCCTACC others(965): Show TCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGAC AAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCA CCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTA CCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGTT CCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCC TGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACG ACAAAGTTCCCAGCCACCCGCCTATCCCTACCCACGACAAAGTTCCCAGC CACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCC TACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAG TTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCG CCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCA CGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCA GCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTC CCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAA AGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACC CGCCTATCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACT CACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCC CAGCCACCCGCCTATCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTG CCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTATCCCTACCCACGAC AAAGTTCCCAGCCACCCGCCTGC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	400	0.0025	972	c.102 others(987): Show c.1029+46_1029+47insGCAGGCGGGTGGCTGGGAACTTTGTCGTGG GTAGGGATAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGG GTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCGGGTGGCTGGGAACTT TGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGG GCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCGGGTGGCT GGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGT GGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGC GGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAAC TTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAA GGGCAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGG CTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTC GTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAG GCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGA ACTTTGTCGTGGGTAGGGATAGGCGGGTGGCTGGGAACTTTGTCGTGGGT AGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGT GGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTG TCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGC AGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGG GAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGG GTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGG		ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/8						chr9	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(965): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTAT ACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTT GTATACAGTCTTGTATACAAAGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0006 a0001c0021t0006	a0001c0021t0006g0056 a0001c0021t0006g0056	1	208	0.0048	972	c.282 others(991): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTAT ACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTT GTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGA CTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACA AAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTA TACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCT TGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACA GTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTA TACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAG		EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52					INFO_REALIGN_3_PRIME	chr12	TogoVar
FHIT_chr3_59742277_61256452	60551574	G G	GAGGGGAG others(965): Show GAGGGGAGGAGGGGAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGG GAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAAGAAGGGGAGGGGAGG AGGGGAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAG AAGGGGAGGGGAGGGGAGGGGAGCGGGGAGGAGGGGAGGGGGAGGAGGGG AGGGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGAGCGGGGAGGAGGGGA GGGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGGGGAGGGGAGGGGGAGG AGGGGAGGGGGAGGAGGGGAGGGGGAGGGGAGGGGGAGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGCGGGGAGGAGGGGAGGGGGAGGAGGGGAGGGG AGGGGAGGGGAGCGGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGA GGGGAGCGGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGGGGAGGGGAGG GGGAGGAGGGGAGGGGGGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGGAGGAGGGGAGGGGGAGGGGGAGGAGGGG AGGGGGGAAGGGAGGGGGAGGAGGGGGGAGTAGGGGAGGGGAGGGGGAGG AGGGGGGAGGAGGAGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGGGAGG AGGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGGGGAGGAGGGGGGGAGG AGGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGGAGGAGG GGAGGGGAGGGGAGGGGGAGGAGGGGGAGGAGGGGGGAGGAGGGGGGGAG GAGGGGGGAGGAGGGGGGAGGAGGGGGGAGGAGGGGAGGGGGAGGAGGAG AGGGGAGGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGGA GGAGGGGGGAGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0003 a0001c0001t0013g0003	1	46	0.0217	972	c.-17 others(991): Show c.-17-14596_-17-14595insTCCCCTCCCCTCCTCCCCCCTCCTCC CCCTCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCTC CTCCTCCCCCTCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC CCCCCCTCCTCCCCCCTCCTCCCCCTCCTCCCCCTCCCCTCCCCTCCCCT CCTCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCT CCCCCCCTCCTCCCCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCT CCCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCCCCCCTCCT CCCCCTCCCCTCCCCTACTCCCCCCTCCTCCCCCTCCCTTCCCCCCTCCC CTCCTCCCCCTCCCCCTCCCCTCCTCCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCTCCCCCTCCCCTCCCCCCCTCCCCTCCTCCCCCT CCCCTCCCCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCGCTCCCCTCC CCTCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCGCTCCCCTCCCCTCCC CTCCCCTCCTCCCCCTCCCCTCCTCCCCGCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCT CCCCCTCCCCTCCCCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCCTCC CCTCCTCCCCGCTCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCC CTCCTCCCCCTCCCCTCCTCCCCGCTCCCCTCCCCTCCCCTCCCCTTCTT CCCCTCCCCTCCCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTCCCCTCCT CCCCTCCCCTTCTTCCCCTCCCCTCCTCCCCTCCCCTTCTTCCCCTCCCC TCCCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTCCCCTCCTCCCCT		FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	4/9						chr3	TogoVar
FLG_chr1_152297165_152330239	152305167	C C	CGATGGTT others(965): Show CGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATG TCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTC TCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATG TCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCC GTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATC CTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTG TGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTA CCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCT GACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGG CGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGA CTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTC CAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGA TGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTC TGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTC CACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGT CTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGC ACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACTAGAGGAAG TCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCA TGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCT TAGCTGCTCCTGAGCAGATCCAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02451.hp2 HG03130.hp1 HG02451.hp2 HG03130.hp1	a0111 a0112 a0111 a0112	a0111c0137 a0112c0180 a0111c0137 a0112c0180	a0111c0137t0001 a0112c0180t0001 a0111c0137t0001 a0112c0180t0001	a0111c0137t0001g0131 a0112c0180t0001g0132 a0111c0137t0001g0131 a0112c0180t0001g0132	2	426	0.0047	972	c.971 others(981): Show c.9718_9719insATGGATCTGCTCAGGAGCAGCTAAGAGATGGCTCCA GACACCCCAGGTCCCATCAAGAAGACAGAGCTGGTCATGGGCACTCTGCA GACAGCTCCAGACAATCAGGCACTCGTCACACACAGACTTCCTCTAGTGG ACAGGCTGCATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGAAAGAC ATGGATCCCACCACCAGCAGTCAGCAGACAGCTCCAGACACTCAGGCATT GGGCACGGACAAGCTTCATCTGCAGTCAGAGACAGTGGACACCGAGGGTA CAGTGGTAGTCAGGCCAGTGACAATGAGGGACATTCAGAAGACTCAGACA CACAGTCAGTGTCAGCCCACGGACAGGCTGGGTCCCATCAGCAGAGCCAC CAAGAGTCCGCACGTGGCCGGTCAGGGGAAACGTCTGGACATTCAGGATC TTTCCTCTACCAGGTGAGCACTCATGAACAGTCTGAGTCCTCCCATGGAT GGACGGGGCCCAGCACTAGAGGAAGACAAGGATCCCGCCATGAGCAGGCA CAAGACAGCTCCAGGCACTCAGCATCCCAAGACGGTCAGGACACCATTCG TGGACACCCGGGGTCAAGCAGAGGAGGAAGGCAGGGGTACCACCACGAGC ATTCGGTAGATAGCTCTGGACACTCAGGGTCCCATCACAGCCACACCACA TCCCAGGGAAGGTCTGATGCCTCCCGTGGGCAGTCAGGATCCAGAAGTGC AAGCAGAACAACACGTAATGAGGAACAATCAGGAGACGGCTCCAGGCACT CAGGGTCGCGTCACCATGAAGCTTCCACTCATGCCGACATCTCTAGACAC TCACAGGCAGTCCAGGGACAATCAGAGGGGTCCAGGAGAAGCAGGCGCCA GGGATCCAGTGTTAGCCAGGACAGTGACAGTGAGGGACATTCAGAAGACT CTGAGAGGTGGTCTGGGTCTGCTTCCAGAAACCATC	p.His others(987): Show p.His3239_Arg3240insHisGlySerAlaGlnGluGlnLeuArgAsp GlySerArgHisProArgSerHisGlnGluAspArgAlaGlyHisGlyHi sSerAlaAspSerSerArgGlnSerGlyThrArgHisThrGlnThrSerS erSerGlyGlnAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGly GluArgHisGlySerHisHisGlnGlnSerAlaAspSerSerArgHisSe rGlyIleGlyHisGlyGlnAlaSerSerAlaValArgAspSerGlyHisA rgGlyTyrSerGlySerGlnAlaSerAspAsnGluGlyHisSerGluAsp SerAspThrGlnSerValSerAlaHisGlyGlnAlaGlySerHisGlnGl nSerHisGlnGluSerAlaArgGlyArgSerGlyGluThrSerGlyHisS erGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerSer HisGlyTrpThrGlyProSerThrArgGlyArgGlnGlySerArgHisGl uGlnAlaGlnAspSerSerArgHisSerAlaSerGlnAspGlyGlnAspT hrIleArgGlyHisProGlySerSerArgGlyGlyArgGlnGlyTyrHis HisGluHisSerValAspSerSerGlyHisSerGlySerHisHisSerHi sThrThrSerGlnGlyArgSerAspAlaSerArgGlyGlnSerGlySerA rgSerAlaSerArgThrThrArgAsnGluGluGlnSerGlyAspGlySer ArgHisSerGlySerArgHisHisGluAlaSerThrHisAlaAspIleSe rArgHisSerGlnAlaValGlnGlyGlnSerGluGlySerArgArgSerA rgArgGlnGlySerSerValSerGlnAspSerAspSerGluGlyHisSer GluAspSerGluArgTrpSerGlySerAlaSerArgAsnHis	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	9790/12793	9718/12186	3240/4061			chr1	TogoVar
FLG_chr1_152297165_152330239	152305366	T T	TGTCTCCT others(965): Show TGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGAT CCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCT GTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGT ACCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCC TGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATG GCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGG ACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGT CCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTG ATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTT CTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGT CCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTG TCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTG CACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACTAGAGGAA GTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCC ATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTC TTCGCTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGAC CACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAAC ACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGA CTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGA CGCGACCCTGAGTGCCTGGAGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02970.hp2 HG02970.hp2	a0160 a0160	a0160c0191 a0160c0191	a0160c0191t0001 a0160c0191t0001	a0160c0191t0001g0137 a0160c0191t0001g0137	1	426	0.0024	972	c.951 others(981): Show c.9519_9520insGGCTCCAGGCACTCAGGGTCGCGTCACCATGAAGCT TCCACTCATGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACAATC AGAGGGGTCCAGGAGAAGCAGGCGCCAGGGATCCAGTGTTAGCCAGGACA GTGACAGTGAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCTGCT TCCAGAAACCATCGTGGATCTGCTCAGGAGCAGCGAAGAGATGGCTCCAG ACACCCCAGGTCCCATCAAGAAGACAGAGCTGGTCATGGGCACTCTGCAG ACAGCTCCAGACAATCAGGCACTCGTCACACACAGACTTCCTCTAGTGGA CAGGCTGCATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGAAAGACA TGGATCCCACCACCAGCAGTCAGCAGACAGCTCCAGACACTCAGGCATTG GGCACGGACAAGCTTCATCTGCAGTCAGAGACAGTGGACACCGAGGGTAC AGTGGTAGTCAGGCCAGTGACAATGAGGGACATTCAGAAGACTCAGACAC ACAGTCAGTGTCAGCCCACGGACAGGCTGGGTCCCATCAGCAGAGCCACC AAGAGTCCGCACGTGGCCGGTCAGGGGAAACGTCTGGACATTCAGGATCT TTCCTCTACCAGGTGAGCACTCATGAACAGTCTGAGTCCTCCCATGGATG GACGGGGCCCAGCACTAGAGGAAGACAAGGATCCCGCCATGAGCAGGCAC AAGACAGCTCCAGGCACTCAGCATCCCAAGACGGTCAGGACACCATTCGT GGACACCCAGGGTCAAGCAGAGGAGGAAGGCAGGGGTACCACCACGAGCA TTCGGTAGATAGCTCTGGACACTCAGGGTCCCATCACAGCCACACCACAT CCCAGGGAAGGTCTGATGCCTCCCGTGGGCAGTCAGGATCCAGAAGTGCA AGCAGAACAACACGTAATGAGGAACAATCAGGAGAC	p.Asp others(987): Show p.Asp3173_Ser3174insGlySerArgHisSerGlySerArgHisHis GluAlaSerThrHisAlaAspIleSerArgHisSerGlnAlaValGlnGl yGlnSerGluGlySerArgArgSerArgArgGlnGlySerSerValSerG lnAspSerAspSerGluGlyHisSerGluAspSerGluArgTrpSerGly SerAlaSerArgAsnHisArgGlySerAlaGlnGluGlnArgArgAspGl ySerArgHisProArgSerHisGlnGluAspArgAlaGlyHisGlyHisS erAlaAspSerSerArgGlnSerGlyThrArgHisThrGlnThrSerSer SerGlyGlnAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGlyGl uArgHisGlySerHisHisGlnGlnSerAlaAspSerSerArgHisSerG lyIleGlyHisGlyGlnAlaSerSerAlaValArgAspSerGlyHisArg GlyTyrSerGlySerGlnAlaSerAspAsnGluGlyHisSerGluAspSe rAspThrGlnSerValSerAlaHisGlyGlnAlaGlySerHisGlnGlnS erHisGlnGluSerAlaArgGlyArgSerGlyGluThrSerGlyHisSer GlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerSerHi sGlyTrpThrGlyProSerThrArgGlyArgGlnGlySerArgHisGluG lnAlaGlnAspSerSerArgHisSerAlaSerGlnAspGlyGlnAspThr IleArgGlyHisProGlySerSerArgGlyGlyArgGlnGlyTyrHisHi sGluHisSerValAspSerSerGlyHisSerGlySerHisHisSerHisT hrThrSerGlnGlyArgSerAspAlaSerArgGlyGlnSerGlySerArg SerAlaSerArgThrThrArgAsnGluGluGlnSerGlyAsp	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	9591/12793	9519/12186	3173/4061			chr1	TogoVar
FLG_chr1_152297165_152330239	152305366	T T	TGTCTCCT others(965): Show TGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGAT CCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCT GTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGT ACCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCC TGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATG GCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGG ACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGT CCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTG ATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTT CTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGT CCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTG TCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTG CACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACTAGAGGAA GTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCC ATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTC TTCGCTGCTCCTGAGCAGATCCATGATGGTTTATGGAAGCAGACCCAGAC CACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAAC ACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGA CTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGA CGCGACCCTGAGTGCCTGGAGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02280.hp2 HG03098.hp2 HG03516.hp2 HG02280.hp2 HG03098.hp2 HG03516.hp2	a0055 a0158 a0055 a0158	a0055c0062 a0158c0190 a0055c0062 a0158c0190	a0055c0062t0001 a0158c0190t0001 a0055c0062t0001 a0158c0190t0001	a0055c0062t0001g0134 a0055c0062t0001g0136 a0158c0190t0001g0135 a0055c0062t0001g0134 a0055c0062t0001g0136 a0158c0190t0001g0135	3	426	0.0070	972	c.951 others(981): Show c.9519_9520insGGCTCCAGGCACTCAGGGTCGCGTCACCATGAAGCT TCCACTCATGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACAATC AGAGGGGTCCAGGAGAAGCAGGCGCCAGGGATCCAGTGTTAGCCAGGACA GTGACAGTGAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCTGCT TCCATAAACCATCATGGATCTGCTCAGGAGCAGCGAAGAGATGGCTCCAG ACACCCCAGGTCCCATCAAGAAGACAGAGCTGGTCATGGGCACTCTGCAG ACAGCTCCAGACAATCAGGCACTCGTCACACACAGACTTCCTCTAGTGGA CAGGCTGCATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGAAAGACA TGGATCCCACCACCAGCAGTCAGCAGACAGCTCCAGACACTCAGGCATTG GGCACGGACAAGCTTCATCTGCAGTCAGAGACAGTGGACACCGAGGGTAC AGTGGTAGTCAGGCCAGTGACAATGAGGGACATTCAGAAGACTCAGACAC ACAGTCAGTGTCAGCCCACGGACAGGCTGGGTCCCATCAGCAGAGCCACC AAGAGTCCGCACGTGGCCGGTCAGGGGAAACGTCTGGACATTCAGGATCT TTCCTCTACCAGGTGAGCACTCATGAACAGTCTGAGTCCTCCCATGGATG GACGGGGCCCAGCACTAGAGGAAGACAAGGATCCCGCCATGAGCAGGCAC AAGACAGCTCCAGGCACTCAGCATCCCAAGACGGTCAGGACACCATTCGT GGACACCCAGGGTCAAGCAGAGGAGGAAGGCAGGGGTACCACCACGAGCA TTCGGTAGATAGCTCTGGACACTCAGGGTCCCATCACAGCCACACCACAT CCCAGGGAAGGTCTGATGCCTCCCGTGGGCAGTCAGGATCCAGAAGTGCA AGCAGAACAACACGTAATGAGGAACAATCAGGAGAC	p.Asp others(987): Show p.Asp3173_Ser3174insGlySerArgHisSerGlySerArgHisHis GluAlaSerThrHisAlaAspIleSerArgHisSerGlnAlaValGlnGl yGlnSerGluGlySerArgArgSerArgArgGlnGlySerSerValSerG lnAspSerAspSerGluGlyHisSerGluAspSerGluArgTrpSerGly SerAlaSerIleAsnHisHisGlySerAlaGlnGluGlnArgArgAspGl ySerArgHisProArgSerHisGlnGluAspArgAlaGlyHisGlyHisS erAlaAspSerSerArgGlnSerGlyThrArgHisThrGlnThrSerSer SerGlyGlnAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGlyGl uArgHisGlySerHisHisGlnGlnSerAlaAspSerSerArgHisSerG lyIleGlyHisGlyGlnAlaSerSerAlaValArgAspSerGlyHisArg GlyTyrSerGlySerGlnAlaSerAspAsnGluGlyHisSerGluAspSe rAspThrGlnSerValSerAlaHisGlyGlnAlaGlySerHisGlnGlnS erHisGlnGluSerAlaArgGlyArgSerGlyGluThrSerGlyHisSer GlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerSerHi sGlyTrpThrGlyProSerThrArgGlyArgGlnGlySerArgHisGluG lnAlaGlnAspSerSerArgHisSerAlaSerGlnAspGlyGlnAspThr IleArgGlyHisProGlySerSerArgGlyGlyArgGlnGlyTyrHisHi sGluHisSerValAspSerSerGlyHisSerGlySerHisHisSerHisT hrThrSerGlnGlyArgSerAspAlaSerArgGlyGlnSerGlySerArg SerAlaSerArgThrThrArgAsnGluGluGlnSerGlyAsp	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	9591/12793	9519/12186	3173/4061			chr1	TogoVar
FLG_chr1_152297165_152330239	152305366	T T	TGTCTCCT others(965): Show TGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGAT CCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCT GTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGT ACCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCC TGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATG GCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGG ACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGT CCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTG ATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTT CTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGT CCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTG TCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTG CACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACTAGAGGAA GTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCC ATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTC TTCGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGAC CACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAAC ACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGA CTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGA CGCGACCCTGAGTGCCTGGAGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19030.hp1 NA19030.hp1	a0159 a0159	a0159c0189 a0159c0189	a0159c0189t0001 a0159c0189t0001	a0159c0189t0001g0133 a0159c0189t0001g0133	1	426	0.0024	972	c.951 others(981): Show c.9519_9520insGGCTCCAGGCACTCAGGGTCGCGTCACCATGAAGCT TCCACTCATGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACAATC AGAGGGGTCCAGGAGAAGCAGGCGCCAGGGATCCAGTGTTAGCCAGGACA GTGACAGTGAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCTGCT TCCAGAAACCATCATGGATCTGCTCAGGAGCAGCGAAGAGATGGCTCCAG ACACCCCAGGTCCCATCAAGAAGACAGAGCTGGTCATGGGCACTCTGCAG ACAGCTCCAGACAATCAGGCACTCGTCACACACAGACTTCCTCTAGTGGA CAGGCTGCATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGAAAGACA TGGATCCCACCACCAGCAGTCAGCAGACAGCTCCAGACACTCAGGCATTG GGCACGGACAAGCTTCATCTGCAGTCAGAGACAGTGGACACCGAGGGTAC AGTGGTAGTCAGGCCAGTGACAATGAGGGACATTCAGAAGACTCAGACAC ACAGTCAGTGTCAGCCCACGGACAGGCTGGGTCCCATCAGCAGAGCCACC AAGAGTCCGCACGTGGCCGGTCAGGGGAAACGTCTGGACATTCAGGATCT TTCCTCTACCAGGTGAGCACTCATGAACAGTCTGAGTCCTCCCATGGATG GACGGGGCCCAGCACTAGAGGAAGACAAGGATCCCGCCATGAGCAGGCAC AAGACAGCTCCAGGCACTCAGCATCCCAAGACGGTCAGGACACCATTCGT GGACACCCAGGGTCAAGCAGAGGAGGAAGGCAGGGGTACCACCACGAGCA TTCGGTAGATAGCTCTGGACACTCAGGGTCCCATCACAGCCACACCACAT CCCAGGGAAGGTCTGATGCCTCCCGTGGGCAGTCAGGATCCAGAAGTGCA AGCAGAACAACACGTAATGAGGAACAATCAGGAGAC	p.Asp others(987): Show p.Asp3173_Ser3174insGlySerArgHisSerGlySerArgHisHis GluAlaSerThrHisAlaAspIleSerArgHisSerGlnAlaValGlnGl yGlnSerGluGlySerArgArgSerArgArgGlnGlySerSerValSerG lnAspSerAspSerGluGlyHisSerGluAspSerGluArgTrpSerGly SerAlaSerArgAsnHisHisGlySerAlaGlnGluGlnArgArgAspGl ySerArgHisProArgSerHisGlnGluAspArgAlaGlyHisGlyHisS erAlaAspSerSerArgGlnSerGlyThrArgHisThrGlnThrSerSer SerGlyGlnAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGlyGl uArgHisGlySerHisHisGlnGlnSerAlaAspSerSerArgHisSerG lyIleGlyHisGlyGlnAlaSerSerAlaValArgAspSerGlyHisArg GlyTyrSerGlySerGlnAlaSerAspAsnGluGlyHisSerGluAspSe rAspThrGlnSerValSerAlaHisGlyGlnAlaGlySerHisGlnGlnS erHisGlnGluSerAlaArgGlyArgSerGlyGluThrSerGlyHisSer GlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerSerHi sGlyTrpThrGlyProSerThrArgGlyArgGlnGlySerArgHisGluG lnAlaGlnAspSerSerArgHisSerAlaSerGlnAspGlyGlnAspThr IleArgGlyHisProGlySerSerArgGlyGlyArgGlnGlyTyrHisHi sGluHisSerValAspSerSerGlyHisSerGlySerHisHisSerHisT hrThrSerGlnGlyArgSerAspAlaSerArgGlyGlnSerGlySerArg SerAlaSerArgThrThrArgAsnGluGluGlnSerGlyAsp	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	9591/12793	9519/12186	3173/4061			chr1	TogoVar
FLG_chr1_152297165_152330239	152305366	T T	TGTCTCCT others(965): Show TGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGAT CCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCT GTGATGGGACCCTGAGTGTCCAGAGCTATCTACTGAATGCTCGTGGTGGT ACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCC TGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATG GCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGG ACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGT CCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTG ATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTT CTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGT CCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTG TCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTG CACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACTAGAGGAA GTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCC ATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTC TTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGAC CACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAAC ACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGA CTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGA CGCGACCCTGAGTGCCTGGAGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA20905.hp1 NA20905.hp1	a0115 a0115	a0115c0178 a0115c0178	a0115c0178t0001 a0115c0178t0001	a0115c0178t0001g0122 a0115c0178t0001g0122	1	426	0.0024	972	c.951 others(981): Show c.9519_9520insGGCTCCAGGCACTCAGGGTCGCGTCACCATGAAGCT TCCACTCATGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACAATC AGAGGGGTCCAGGAGAAGCAGGCGCCAGGGATCCAGTGTTAGCCAGGACA GTGACAGTGAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCTGCT TCCAGAAACCATCATGGATCTGCTCAGGAGCAGCTAAGAGATGGCTCCAG ACACCCCAGGTCCCATCAAGAAGACAGAGCTGGTCATGGGCACTCTGCAG ACAGCTCCAGACAATCAGGCACTCGTCACACACAGACTTCCTCTAGTGGA CAGGCTGCATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGAAAGACA TGGATCCCACCACCAGCAGTCAGCAGACAGCTCCAGACACTCAGGCATTG GGCACGGACAAGCTTCATCTGCAGTCAGAGACAGTGGACACCGAGGGTAC AGTGGTAGTCAGGCCAGTGACAATGAGGGACATTCAGAAGACTCAGACAC ACAGTCAGTGTCAGCCCACGGACAGGCTGGGTCCCATCAGCAGAGCCACC AAGAGTCCGCACGTGGCCGGTCAGGGGAAACGTCTGGACATTCAGGATCT TTCCTCTACCAGGTGAGCACTCATGAACAGTCTGAGTCCTCCCATGGATG GACGGGGCCCAGCACTAGAGGAAGACAAGGATCCCGCCATGAGCAGGCAC AAGACAGCTCCAGGCACTCAGCATCCCAAGACGGTCAGGACACCATTCGT GGACACCCGGGGTCAAGCAGAGGAGGAAGGCAGGGGTACCACCACGAGCA TTCAGTAGATAGCTCTGGACACTCAGGGTCCCATCACAGCCACACCACAT CCCAGGGAAGGTCTGATGCCTCCCGTGGGCAGTCAGGATCCAGAAGTGCA AGCAGAACAACACGTAATGAGGAACAATCAGGAGAC	p.Asp others(987): Show p.Asp3173_Ser3174insGlySerArgHisSerGlySerArgHisHis GluAlaSerThrHisAlaAspIleSerArgHisSerGlnAlaValGlnGl yGlnSerGluGlySerArgArgSerArgArgGlnGlySerSerValSerG lnAspSerAspSerGluGlyHisSerGluAspSerGluArgTrpSerGly SerAlaSerArgAsnHisHisGlySerAlaGlnGluGlnLeuArgAspGl ySerArgHisProArgSerHisGlnGluAspArgAlaGlyHisGlyHisS erAlaAspSerSerArgGlnSerGlyThrArgHisThrGlnThrSerSer SerGlyGlnAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGlyGl uArgHisGlySerHisHisGlnGlnSerAlaAspSerSerArgHisSerG lyIleGlyHisGlyGlnAlaSerSerAlaValArgAspSerGlyHisArg GlyTyrSerGlySerGlnAlaSerAspAsnGluGlyHisSerGluAspSe rAspThrGlnSerValSerAlaHisGlyGlnAlaGlySerHisGlnGlnS erHisGlnGluSerAlaArgGlyArgSerGlyGluThrSerGlyHisSer GlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerSerHi sGlyTrpThrGlyProSerThrArgGlyArgGlnGlySerArgHisGluG lnAlaGlnAspSerSerArgHisSerAlaSerGlnAspGlyGlnAspThr IleArgGlyHisProGlySerSerArgGlyGlyArgGlnGlyTyrHisHi sGluHisSerValAspSerSerGlyHisSerGlySerHisHisSerHisT hrThrSerGlnGlyArgSerAspAlaSerArgGlyGlnSerGlySerArg SerAlaSerArgThrThrArgAsnGluGluGlnSerGlyAsp	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	9591/12793	9519/12186	3173/4061			chr1	TogoVar
FLG_chr1_152297165_152330239	152305366	T T	TGTCTCCT others(965): Show TGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGAT CCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCT GTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGT ACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCC TGACCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATG GCGGGATCTTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGG ACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGT CCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTG ATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTT CTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGT CCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTG TCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTG CACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAA GTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCC ATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTC TTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGAC CACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCAC ACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGA CTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGA CGCGACCCTGAGTGCCTGGAGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02080.hp2 HG02080.hp2	a0073 a0073	a0073c0125 a0073c0125	a0073c0125t0001 a0073c0125t0001	a0073c0125t0001g0221 a0073c0125t0001g0221	1	426	0.0024	972	c.951 others(981): Show c.9519_9520insGGCTCCAGGCACTCAGGGTCGCGTCACCATGAAGCT TCCACTCATGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACAATC AGAGGGGTCCAGGAGAAGCAGGCGCCAGGGATCCAGTGTGAGCCAGGACA GTGACAGTGAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCTGCT TCCAGAAACCATCATGGATCTGCTCAGGAGCAGCTAAGAGATGGCTCCAG ACACCCCAGGTCCCATCAAGAAGACAGAGCTGGTCATGGGCACTCTGCAG ACAGCTCCAGACAATCAGGCACTCGTCACACACAGACTTCCTCTGGTGGA CAGGCTGCATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGAAAGACA TGGATCCCACCACCAGCAGTCAGCAGACAGCTCCAGACACTCAGGCATTG GGCACGGACAAGCTTCATCTGCAGTCAGAGACAGTGGACACCGAGGGTAC AGTGGTAGTCAGGCCAGTGACAATGAGGGACATTCAGAAGACTCAGACAC ACAGTCAGTGTCAGCCCACGGACAGGCTGGGTCCCATCAGCAGAGCCACC AAGAGTCCGCACGTGGCCGGTCAGGGGAAACGTCTGGACATTCAGGATCT TTCCTCTACCAGGTGAGCACTCATGAACAGTCTGAGTCCTCCCATGGATG GACGGGGCCCAGCACTAGAGGAAGACAAAGATCCCGCCATGAGCAGGCAC AAGACAGCTCCAGGCACTCAGCATCCCAATACGGTCAGGACACCATTCGT GGACACCCGGGGTCAAGCAGAGGAGGAAGGCAGGGGTACCACCACGAGCA TTCGGTAGATAGCTCTGGACACTCAGGGTCCCATCACAGCCACACCACAC CCCAGGGAAGGTCTGATGCCTCCCGTGGGCAGTCAGGATCCAGAAGTGCA AGCAGAACAACACGTAATGAGGAACAATCAGGAGAC	p.Asp others(987): Show p.Asp3173_Ser3174insGlySerArgHisSerGlySerArgHisHis GluAlaSerThrHisAlaAspIleSerArgHisSerGlnAlaValGlnGl yGlnSerGluGlySerArgArgSerArgArgGlnGlySerSerValSerG lnAspSerAspSerGluGlyHisSerGluAspSerGluArgTrpSerGly SerAlaSerArgAsnHisHisGlySerAlaGlnGluGlnLeuArgAspGl ySerArgHisProArgSerHisGlnGluAspArgAlaGlyHisGlyHisS erAlaAspSerSerArgGlnSerGlyThrArgHisThrGlnThrSerSer GlyGlyGlnAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGlyGl uArgHisGlySerHisHisGlnGlnSerAlaAspSerSerArgHisSerG lyIleGlyHisGlyGlnAlaSerSerAlaValArgAspSerGlyHisArg GlyTyrSerGlySerGlnAlaSerAspAsnGluGlyHisSerGluAspSe rAspThrGlnSerValSerAlaHisGlyGlnAlaGlySerHisGlnGlnS erHisGlnGluSerAlaArgGlyArgSerGlyGluThrSerGlyHisSer GlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerSerHi sGlyTrpThrGlyProSerThrArgGlyArgGlnArgSerArgHisGluG lnAlaGlnAspSerSerArgHisSerAlaSerGlnTyrGlyGlnAspThr IleArgGlyHisProGlySerSerArgGlyGlyArgGlnGlyTyrHisHi sGluHisSerValAspSerSerGlyHisSerGlySerHisHisSerHisT hrThrProGlnGlyArgSerAspAlaSerArgGlyGlnSerGlySerArg SerAlaSerArgThrThrArgAsnGluGluGlnSerGlyAsp	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	9591/12793	9519/12186	3173/4061			chr1	TogoVar
FLG_chr1_152297165_152330239	152305573	A A	ATTGGGAT others(965): Show ATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGAT CCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGA CTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACG TTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGAC CCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATG TCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGT CTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAG CTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTGTCTCCTGCACTTGA TCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTG TGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCA GCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTG CTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCT CAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGAT CCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTG TGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACC CTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTG CTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTG GGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCG AATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGT CCACGAATGGTGTCCTGACCGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp2 HG02300.hp1 HG02572.hp1 HG00140.hp2 HG02300.hp1 HG02572.hp1	a0039 a0090 a0039 a0090	a0039c0037 a0090c0107 a0039c0037 a0090c0107	a0039c0037t0001 a0090c0107t0001 a0039c0037t0001 a0090c0107t0001	a0039c0037t0001g0051 a0090c0107t0001g0195 a0039c0037t0001g0051 a0090c0107t0001g0195	3	426	0.0070	972	c.931 others(981): Show c.9312_9313insGACGGTCAGGACACCATTCGTGGACACCCGGGGTCA AGCAGAGGAGGAAGGCAGGGGTACCACCACGAGCATTCGGTAGATAGCTC TGGACACTCAGGGTCCCATCACAGCCACACCACATCCCAGGGAAGGTCTG ATGCCTCCCGTGGGCAGTCAGGATCCAGAAGTGCAAGCAGAACAACACGT AATGAGGAACAATCAGGAGACGGCTCCAGGCACTCAGGGTCGCGTCACCA TGAAGCTTCCACTCATGCCGACATCTCTAGACACTCACAGGCAGTCCAGG GACAATCAGAGGGGTCCAGGAGAAGCAGGCGCCAGGGATCCAGTGTGAGC CAGGACAGTGACAGTGAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGG GTCTGCTTCCAGAAACCATCATGGATCTGCTCAGGAGCAGCTAAGAGATG GCTCCAGACACCCCAGGTCCCATCAAGAAGACAGAGCTGGTCATGGGCAC TCTGCAGACAGCTCCAGACAATCAGGCACTCGTCACACACAGACTTCCTC TGGTGGACAGGCTGCATCATCCCATGAACAGGCAAGATCAAGTGCAGGAG ACAGACATGGATCCCACCACCAGCAGTCAGCAGACAGCTCCAGACACTCA GGCATTGGGCACGGACAAGCTTCATCTGCAGTCAGAGACAGTGGACACCG AGGGTACAGTGGTAGTCAGGCCAGTGACAATGAGGGACATTCAGAAGACT CAGACACACAGTCAGTGTCAGCCCACGGACAGGCTGGGTCCCATCAGCAG AGCCACCAAGAGTCCGCACGTGGCCGGTCAGGGGAAACGTCTGGACATTC AGGATCTTTCCTCTACCAGGTGAGCACTCATGAACAGTCTGAGTCCTCCC ATGGATGGACGGGGCCCAGCACTAGAGGAAGACAAGGATCCCGCCATGAG CAGGCACAAGACAGCTCCAGGCACTCAGCATCCCAA	p.Gln others(987): Show p.Gln3104_Tyr3105insAspGlyGlnAspThrIleArgGlyHisPro GlySerSerArgGlyGlyArgGlnGlyTyrHisHisGluHisSerValAs pSerSerGlyHisSerGlySerHisHisSerHisThrThrSerGlnGlyA rgSerAspAlaSerArgGlyGlnSerGlySerArgSerAlaSerArgThr ThrArgAsnGluGluGlnSerGlyAspGlySerArgHisSerGlySerAr gHisHisGluAlaSerThrHisAlaAspIleSerArgHisSerGlnAlaV alGlnGlyGlnSerGluGlySerArgArgSerArgArgGlnGlySerSer ValSerGlnAspSerAspSerGluGlyHisSerGluAspSerGluArgTr pSerGlySerAlaSerArgAsnHisHisGlySerAlaGlnGluGlnLeuA rgAspGlySerArgHisProArgSerHisGlnGluAspArgAlaGlyHis GlyHisSerAlaAspSerSerArgGlnSerGlyThrArgHisThrGlnTh rSerSerGlyGlyGlnAlaAlaSerSerHisGluGlnAlaArgSerSerA laGlyAspArgHisGlySerHisHisGlnGlnSerAlaAspSerSerArg HisSerGlyIleGlyHisGlyGlnAlaSerSerAlaValArgAspSerGl yHisArgGlyTyrSerGlySerGlnAlaSerAspAsnGluGlyHisSerG luAspSerAspThrGlnSerValSerAlaHisGlyGlnAlaGlySerHis GlnGlnSerHisGlnGluSerAlaArgGlyArgSerGlyGluThrSerGl yHisSerGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluS erSerHisGlyTrpThrGlyProSerThrArgGlyArgGlnGlySerArg HisGluGlnAlaGlnAspSerSerArgHisSerAlaSerGln	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	9384/12793	9312/12186	3104/4061			chr1	TogoVar
FLG_chr1_152297165_152330239	152305573	A A	ATTGGGAT others(965): Show ATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGAT CTTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGA CTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACG TTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGAC CCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATG TCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGT CTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAG CTGTCTGCTGACTGCAGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGA TCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTG TGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCA GCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTG CTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCT CAGAGTCTTCTGAATGTCCCTGACTGTCACTGTCCTGGCTCACACTGGAT CCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTG TGAGTGTCTAGAGATGACGGCATGAGTGGAAGCTTCATGGTGACGCGACC CTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTG CTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTG GGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCG AATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGT CCACGAATGGTGTCCTGACCGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03041.hp2 HG03579.hp1 HG06807.hp1 others(1): Show HG03041.hp2 HG03579.hp1 HG06807.hp1 NA20300.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0001 a0013c0015t0001	a0013c0015t0001g0065 a0013c0015t0001g0235 a0013c0015t0001g0236 a0013c0015t0001g0065 a0013c0015t0001g0235 a0013c0015t0001g0236	4	426	0.0094	972	c.931 others(981): Show c.9312_9313insGACGGTCAGGACACCATTCGTGGACACCCGGGGTCA AGCAGAGGAGGAAGGCAGGGGTACCACCACGAGCATTCGGTAGATAGCTC TGGACACTCAGGGTCCCATCACAGCCACACCACATCCCAGGGAAGGTCTG ATGCCTCCCGTGGGCAGTCAGGATCCAGAAGTGCAAGCAGAACAACACGT AATGAGGAACAATCAGGAGACGGCTCCAGGCACTCAGGGTCGCGTCACCA TGAAGCTTCCACTCATGCCGTCATCTCTAGACACTCACAGGCAGTCCAGG GACAATCAGAGGGGTCCAGGAGAAGCAGGCGCCAGGGATCCAGTGTGAGC CAGGACAGTGACAGTCAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGG GTCTGCTTCCAGAAACCATCATGGATCTGCTCAGGAGCAGCTAAGAGATG GCTCCAGACACCCCAGGTCCCATCAAGAAGACAGAGCTGGTCATGGGCAC TCTGCAGACAGCTCCAGACAATCAGGCACTCGTCACACACAGACTTCCTC TGGTGGACAGGCTGCATCATCCCATGAACAGGCAAGATCAAGTGCAGGAG AAAGACATGGATCCCACCACCTGCAGTCAGCAGACAGCTCCAGACACTCA GGCATTGGGCACGGACAAGCTTCATCTGCAGTCAGAGACAGTGGACACCG AGGGTACAGTGGTAGTCAGGCCAGTGACAATGAGGGACATTCAGAAGACT CAGACACACAGTCAGTGTCAGCCCACGGACAGGCTGGGTCCCATCAGCAG AGCCACCAAGAGTCCGCACGTGGCCGGTCAGGGGAAACGTCTGGACATTC AGGATCTTTCCTCTACCAGGTGAGCACTCATGAACAGTCTGAGTCCTCCC ATGGATGGACGGGGCCCAGCACTAGAGGAAGACAAAGATCCCGCCATGAG CAGGCACAAGACAGCTCCAGGCACTCAGCATCCCAA	p.Gln others(987): Show p.Gln3104_Tyr3105insAspGlyGlnAspThrIleArgGlyHisPro GlySerSerArgGlyGlyArgGlnGlyTyrHisHisGluHisSerValAs pSerSerGlyHisSerGlySerHisHisSerHisThrThrSerGlnGlyA rgSerAspAlaSerArgGlyGlnSerGlySerArgSerAlaSerArgThr ThrArgAsnGluGluGlnSerGlyAspGlySerArgHisSerGlySerAr gHisHisGluAlaSerThrHisAlaValIleSerArgHisSerGlnAlaV alGlnGlyGlnSerGluGlySerArgArgSerArgArgGlnGlySerSer ValSerGlnAspSerAspSerGlnGlyHisSerGluAspSerGluArgTr pSerGlySerAlaSerArgAsnHisHisGlySerAlaGlnGluGlnLeuA rgAspGlySerArgHisProArgSerHisGlnGluAspArgAlaGlyHis GlyHisSerAlaAspSerSerArgGlnSerGlyThrArgHisThrGlnTh rSerSerGlyGlyGlnAlaAlaSerSerHisGluGlnAlaArgSerSerA laGlyGluArgHisGlySerHisHisLeuGlnSerAlaAspSerSerArg HisSerGlyIleGlyHisGlyGlnAlaSerSerAlaValArgAspSerGl yHisArgGlyTyrSerGlySerGlnAlaSerAspAsnGluGlyHisSerG luAspSerAspThrGlnSerValSerAlaHisGlyGlnAlaGlySerHis GlnGlnSerHisGlnGluSerAlaArgGlyArgSerGlyGluThrSerGl yHisSerGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluS erSerHisGlyTrpThrGlyProSerThrArgGlyArgGlnArgSerArg HisGluGlnAlaGlnAspSerSerArgHisSerAlaSerGln	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	9384/12793	9312/12186	3104/4061			chr1	TogoVar
FLG_chr1_152297165_152330239	152305958	T T	TTCTCCTG others(965): Show TTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCAC CAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCGGTCTGCA GAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGA GCCGTGCCTTGACTGCTCCTGAACAGATCCACGATGGTTTCTGGAAGCAG ACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCC TGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTG TCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTT CATGGTGACGTGACACTGAGTGCCTGGAGCTGTCTCCTGATTGTTCCTCA TTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGC ATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTC CAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTG CTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGA GTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTC TAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTG CTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCG GCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGT GGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCA CTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGA TGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACT GCTGGTGGTGGGATCCATGTCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02055.hp1 HG02055.hp1	a0095 a0095	a0095c0104 a0095c0104	a0095c0104t0001 a0095c0104t0001	a0095c0104t0001g0192 a0095c0104t0001g0192	1	426	0.0024	972	c.892 others(981): Show c.8927_8928insCAGACATGGATCCCACCACCAGCAGTCAGCAGACAG CTCCAGACACTCAGGCATTGGGCACGGACAAGCTTCATCTGCAGTCAGAG ACAGTGGACACCGAGGGTACAGTGGTAGTCAGGCCAGTGACAATGAGGGA CATTCAGAAGACTCAGACACACAGTCAGTGTCAGCCCACGGACAGGCTGG GTCCCATCAGCAGAGCCACCAAGAGTCCGCACGTGGCCGGTCAGGGGAAA CGTCTGGACATTCAGGATCTTTCCTCTACCAGGTGAGCACTCATGAACAG TCTGAGTCCTCCCATGGATGGACGGGGCCCAGCACTAGAGGAAGACAAGG ATCCCGCCATGAGCAGGCACAAGACAGCTCCAGGCACTCAGCATCCCAAG ACGGTCAGGACACCATTCGTGGACACCCGGGGTCAAGCAGAGGAGGAAGG CAGGGGTACCACCACGAGCATTCGGTAGATAGCTCTGGACACTCAGGGTC CCATCACAGCCACACCACATCCCAGGGAAGGTCTGATGCCTCCCGTGGGC AGTCAGGATCCAGAAGTGCAAGCAGAACAACACGTAATGAGGAACAATCA GGAGACAGCTCCAGGCACTCAGTGTCACGTCACCATGAAGCTTCCACTCA TGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACAATCAGAGGGGT CCAGGAGAAGCAGGCGCCAGGGATCCAGTGTGAGCCAGGACAGTGACAGT GAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCTGCTTCCAGAAA CCATCGTGGATCTGTTCAGGAGCAGTCAAGGCACGGCTCCAGACACCCCA GGTCCCATCACGAAGACAGAGCCGGTCACGGGCACTCTGCAGACCGCTCC AGACAATCAGGCACTCGTCACGCAGAGACTTCCTCTGGTGGACAGGCTGC ATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGA	p.Gly others(987): Show p.Gly2975_Glu2976insAspArgHisGlySerHisHisGlnGlnSer AlaAspSerSerArgHisSerGlyIleGlyHisGlyGlnAlaSerSerAl aValArgAspSerGlyHisArgGlyTyrSerGlySerGlnAlaSerAspA snGluGlyHisSerGluAspSerAspThrGlnSerValSerAlaHisGly GlnAlaGlySerHisGlnGlnSerHisGlnGluSerAlaArgGlyArgSe rGlyGluThrSerGlyHisSerGlySerPheLeuTyrGlnValSerThrH isGluGlnSerGluSerSerHisGlyTrpThrGlyProSerThrArgGly ArgGlnGlySerArgHisGluGlnAlaGlnAspSerSerArgHisSerAl aSerGlnAspGlyGlnAspThrIleArgGlyHisProGlySerSerArgG lyGlyArgGlnGlyTyrHisHisGluHisSerValAspSerSerGlyHis SerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSe rArgGlyGlnSerGlySerArgSerAlaSerArgThrThrArgAsnGluG luGlnSerGlyAspSerSerArgHisSerValSerArgHisHisGluAla SerThrHisAlaAspIleSerArgHisSerGlnAlaValGlnGlyGlnSe rGluGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspS erAspSerGluGlyHisSerGluAspSerGluArgTrpSerGlySerAla SerArgAsnHisArgGlySerValGlnGluGlnSerArgHisGlySerAr gHisProArgSerHisHisGluAspArgAlaGlyHisGlyHisSerAlaA spArgSerArgGlnSerGlyThrArgHisAlaGluThrSerSerGlyGly GlnAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGly	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8999/12793	8927/12186	2976/4061			chr1	TogoVar
FLG_chr1_152297165_152330239	152305958	T T	TTCTCCTG others(965): Show TTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCAC CAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCA GAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGA GCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAG ACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCC TGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTG TCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTT CATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCA TTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGC ATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTC CAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTG CTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGA GTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTC TAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTG CTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCG GCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGT GGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCA CTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGA TGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACT GCTGGTGGTGGGATCCATGTCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(90): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00544.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02165.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG03017.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18940.hp2 NA18945.hp1 NA18947.hp2 NA18953.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18979.hp1 NA18985.hp2 NA18988.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA19005.hp1 NA19055.hp1 NA19064.hp2 NA19066.hp1 NA19077.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19087.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0007 a0009 others(26): Show a0002 a0007 a0009 a0038 a0040 a0041 a0043 a0044 a0046 a0054 a0059 a0060 a0061 a0076 a0078 a0079 a0081 a0082 a0083 a0084 a0086 a0087 a0091 a0092 a0093 a0094 a0100 a0101 a0102	a0002c0002 a0002c0007 a0002c0020 others(37): Show a0002c0002 a0002c0007 a0002c0020 a0002c0048 a0002c0077 a0002c0083 a0002c0084 a0002c0085 a0002c0101 a0007c0008 a0007c0080 a0009c0022 a0009c0036 a0009c0043 a0038c0042 a0040c0044 a0041c0045 a0043c0049 a0044c0041 a0046c0051 a0054c0061 a0059c0069 a0060c0071 a0061c0070 a0076c0095 a0078c0117 a0079c0072 a0081c0073 a0082c0086 a0083c0100 a0084c0082 a0086c0111 a0087c0102 a0091c0105 a0092c0106 a0093c0076 a0094c0075 a0100c0116 a0101c0099 a0102c0098	a0002c0002t0001 a0002c0007t0001 a0002c0020t0001 others(37): Show a0002c0002t0001 a0002c0007t0001 a0002c0020t0001 a0002c0048t0001 a0002c0077t0001 a0002c0083t0001 a0002c0084t0001 a0002c0085t0001 a0002c0101t0001 a0007c0008t0001 a0007c0080t0001 a0009c0022t0001 a0009c0036t0001 a0009c0043t0001 a0038c0042t0001 a0040c0044t0001 a0041c0045t0001 a0043c0049t0001 a0044c0041t0001 a0046c0051t0001 a0054c0061t0001 a0059c0069t0001 a0060c0071t0001 a0061c0070t0001 a0076c0095t0001 a0078c0117t0001 a0079c0072t0001 a0081c0073t0001 a0082c0086t0001 a0083c0100t0001 a0084c0082t0001 a0086c0111t0001 a0087c0102t0001 a0091c0105t0001 a0092c0106t0001 a0093c0076t0001 a0094c0075t0001 a0100c0116t0001 a0101c0099t0001 a0102c0098t0004	a0002c0002t0001g0007 a0002c0002t0001g0015 a0002c0002t0001g0049 others(51): Show a0002c0002t0001g0007 a0002c0002t0001g0015 a0002c0002t0001g0049 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0160 a0002c0002t0001g0163 a0002c0002t0001g0168 a0002c0007t0001g0006 a0002c0007t0001g0157 a0002c0007t0001g0164 a0002c0020t0001g0028 a0002c0048t0001g0057 a0002c0077t0001g0208 a0002c0083t0001g0219 a0002c0084t0001g0166 a0002c0085t0001g0079 a0002c0101t0001g0175 a0007c0008t0001g0008 a0007c0008t0001g0027 a0007c0008t0001g0162 a0007c0080t0001g0165 a0009c0022t0001g0030 a0009c0036t0001g0050 a0009c0043t0001g0056 a0038c0042t0001g0055 a0040c0044t0001g0048 a0041c0045t0001g0169 a0041c0045t0001g0194 a0043c0049t0001g0158 a0043c0049t0001g0202 a0044c0041t0001g0054 a0046c0051t0001g0060 a0054c0061t0001g0243 a0054c0061t0001g0245 a0059c0069t0001g0211 a0060c0071t0001g0232 a0061c0070t0001g0231 a0076c0095t0001g0187 a0078c0117t0001g0205 a0079c0072t0001g0209 a0081c0073t0001g0210 a0082c0086t0001g0144 a0083c0100t0001g0190 a0084c0082t0001g0171 a0086c0111t0001g0200 a0087c0102t0001g0213 a0091c0105t0001g0193 a0092c0106t0001g0212 a0093c0076t0001g0178 a0094c0075t0001g0177 a0100c0116t0001g0203 a0101c0099t0001g0161 a0102c0098t0004g0172	93	426	0.2183	972	c.892 others(981): Show c.8927_8928insCAGACATGGATCCCACCACCAGCAGTCAGCAGACAG CTCCAGACACTCAGGCATTGGGCACGGACAAGCTTCATCTGCAGTCAGAG ACAGTGGACACCGAGGGTACAGTGGTAGTCAGGCCAGTGACAATGAGGGA CATTCAGAAGACTCAGACACACAGTCAGTGTCAGCCCACGGACAGGCTGG GTCCCATCAGCAGAGCCACCAAGAGTCCGCACGTGGCCGGTCAGGGGAAA CGTCTGGACATTCAGGATCTTTCCTCTACCAGGTGAGCACTCATGAACAG TCTGAGTCCTCCCATGGATGGACGGGGCCCAGCACTAGAGGAAGACAAGG ATCCCGCCATGAGCAGGCACAAGACAGCTCCAGGCACTCAGCATCCCAAG ACGGTCAGGACACCATTCGTGGACACCCGGGGTCAAGCAGAGGAGGAAGG CAGGGGTACCACCACGAGCATTCGGTAGATAGCTCTGGACACTCAGGGTC CCATCACAGCCACACCACATCCCAGGGAAGGTCTGATGCCTCCCGTGGGC AGTCAGGATCCAGAAGTGCAAGCAGAACAACACGTAATGAGGAACAATCA GGAGACGGCTCCAGGCACTCAGGGTCGCGTCACCATGAAGCTTCCACTCA TGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACAATCAGAGGGGT CCAGGAGAAGCAGGCGCCAGGGATCCAGTGTGAGCCAGGACAGTGACAGT GAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCTGCTTCCAGAAA CCATCATGGATCTGCTCAGGAGCAGCTAAGAGATGGCTCCAGACACCCCA GGTCCCATCAAGAAGACAGAGCTGGTCATGGGCACTCTGCAGACAGCTCC AGACAATCAGGCACTCGTCACACACAGACTTCCTCTGGTGGACAGGCTGC ATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGA	p.Gly others(987): Show p.Gly2975_Glu2976insAspArgHisGlySerHisHisGlnGlnSer AlaAspSerSerArgHisSerGlyIleGlyHisGlyGlnAlaSerSerAl aValArgAspSerGlyHisArgGlyTyrSerGlySerGlnAlaSerAspA snGluGlyHisSerGluAspSerAspThrGlnSerValSerAlaHisGly GlnAlaGlySerHisGlnGlnSerHisGlnGluSerAlaArgGlyArgSe rGlyGluThrSerGlyHisSerGlySerPheLeuTyrGlnValSerThrH isGluGlnSerGluSerSerHisGlyTrpThrGlyProSerThrArgGly ArgGlnGlySerArgHisGluGlnAlaGlnAspSerSerArgHisSerAl aSerGlnAspGlyGlnAspThrIleArgGlyHisProGlySerSerArgG lyGlyArgGlnGlyTyrHisHisGluHisSerValAspSerSerGlyHis SerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSe rArgGlyGlnSerGlySerArgSerAlaSerArgThrThrArgAsnGluG luGlnSerGlyAspGlySerArgHisSerGlySerArgHisHisGluAla SerThrHisAlaAspIleSerArgHisSerGlnAlaValGlnGlyGlnSe rGluGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspS erAspSerGluGlyHisSerGluAspSerGluArgTrpSerGlySerAla SerArgAsnHisHisGlySerAlaGlnGluGlnLeuArgAspGlySerAr gHisProArgSerHisGlnGluAspArgAlaGlyHisGlyHisSerAlaA spSerSerArgGlnSerGlyThrArgHisThrGlnThrSerSerGlyGly GlnAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGly	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8999/12793	8927/12186	2976/4061			chr1	TogoVar
FLG_chr1_152297165_152330239	152305958	T T	TTCTCCTG others(965): Show TTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCAC CAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCA GAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGA GCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAG ACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCC TGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTG TCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTT CATGGTGACGCGACCGTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCA TTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGC ATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTC CAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTG CTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGA GTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTC TAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTG CTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCG GCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGT GGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCA CTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGA TGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACT GCTGGTGGTGGGATCCATGTCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01081.hp2 HG01192.hp2 HG01081.hp2 HG01192.hp2	a0037 a0037	a0037c0050 a0037c0050	a0037c0050t0001 a0037c0050t0001	a0037c0050t0001g0059 a0037c0050t0001g0059	2	426	0.0047	972	c.892 others(981): Show c.8927_8928insCAGACATGGATCCCACCACCAGCAGTCAGCAGACAG CTCCAGACACTCAGGCATTGGGCACGGACAAGCTTCATCTGCAGTCAGAG ACAGTGGACACCGAGGGTACAGTGGTAGTCAGGCCAGTGACAATGAGGGA CATTCAGAAGACTCAGACACACAGTCAGTGTCAGCCCACGGACAGGCTGG GTCCCATCAGCAGAGCCACCAAGAGTCCGCACGTGGCCGGTCAGGGGAAA CGTCTGGACATTCAGGATCTTTCCTCTACCAGGTGAGCACTCATGAACAG TCTGAGTCCTCCCATGGATGGACGGGGCCCAGCACTAGAGGAAGACAAGG ATCCCGCCATGAGCAGGCACAAGACAGCTCCAGGCACTCAGCATCCCAAG ACGGTCAGGACACCATTCGTGGACACCCGGGGTCAAGCAGAGGAGGAAGG CAGGGGTACCACCACGAGCATTCGGTAGATAGCTCTGGACACTCAGGGTC CCATCACAGCCACACCACATCCCAGGGAAGGTCTGATGCCTCCCGTGGGC AGTCAGGATCCAGAAGTGCAAGCAGAACAACACGTAATGAGGAACAATCA GGAGACGGCTCCAGGCACTCACGGTCGCGTCACCATGAAGCTTCCACTCA TGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACAATCAGAGGGGT CCAGGAGAAGCAGGCGCCAGGGATCCAGTGTGAGCCAGGACAGTGACAGT GAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCTGCTTCCAGAAA CCATCATGGATCTGCTCAGGAGCAGCTAAGAGATGGCTCCAGACACCCCA GGTCCCATCAAGAAGACAGAGCTGGTCATGGGCACTCTGCAGACAGCTCC AGACAATCAGGCACTCGTCACACACAGACTTCCTCTGGTGGACAGGCTGC ATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGA	p.Gly others(987): Show p.Gly2975_Glu2976insAspArgHisGlySerHisHisGlnGlnSer AlaAspSerSerArgHisSerGlyIleGlyHisGlyGlnAlaSerSerAl aValArgAspSerGlyHisArgGlyTyrSerGlySerGlnAlaSerAspA snGluGlyHisSerGluAspSerAspThrGlnSerValSerAlaHisGly GlnAlaGlySerHisGlnGlnSerHisGlnGluSerAlaArgGlyArgSe rGlyGluThrSerGlyHisSerGlySerPheLeuTyrGlnValSerThrH isGluGlnSerGluSerSerHisGlyTrpThrGlyProSerThrArgGly ArgGlnGlySerArgHisGluGlnAlaGlnAspSerSerArgHisSerAl aSerGlnAspGlyGlnAspThrIleArgGlyHisProGlySerSerArgG lyGlyArgGlnGlyTyrHisHisGluHisSerValAspSerSerGlyHis SerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSe rArgGlyGlnSerGlySerArgSerAlaSerArgThrThrArgAsnGluG luGlnSerGlyAspGlySerArgHisSerArgSerArgHisHisGluAla SerThrHisAlaAspIleSerArgHisSerGlnAlaValGlnGlyGlnSe rGluGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspS erAspSerGluGlyHisSerGluAspSerGluArgTrpSerGlySerAla SerArgAsnHisHisGlySerAlaGlnGluGlnLeuArgAspGlySerAr gHisProArgSerHisGlnGluAspArgAlaGlyHisGlyHisSerAlaA spSerSerArgGlnSerGlyThrArgHisThrGlnThrSerSerGlyGly GlnAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGly	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8999/12793	8927/12186	2976/4061			chr1	TogoVar
FLG_chr1_152297165_152330239	152305958	T T	TTCTCCTG others(965): Show TTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCAC CAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCA GAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGA GCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAG ACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCC TGGCTCACGCTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTG TCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTT CATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCA TTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGC ATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTC CAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTG CTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGA GTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTC TAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTG CTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCG GCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGT GGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCA CTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGA TGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACT GCTGGTGGTGGGATCCATGTCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19043.hp2 NA20129.hp2 NA19043.hp2 NA20129.hp2	a0036 a0036	a0036c0040 a0036c0040	a0036c0040t0001 a0036c0040t0001	a0036c0040t0001g0044 a0036c0040t0001g0044	2	426	0.0047	972	c.892 others(981): Show c.8927_8928insCAGACATGGATCCCACCACCAGCAGTCAGCAGACAG CTCCAGACACTCAGGCATTGGGCACGGACAAGCTTCATCTGCAGTCAGAG ACAGTGGACACCGAGGGTACAGTGGTAGTCAGGCCAGTGACAATGAGGGA CATTCAGAAGACTCAGACACACAGTCAGTGTCAGCCCACGGACAGGCTGG GTCCCATCAGCAGAGCCACCAAGAGTCCGCACGTGGCCGGTCAGGGGAAA CGTCTGGACATTCAGGATCTTTCCTCTACCAGGTGAGCACTCATGAACAG TCTGAGTCCTCCCATGGATGGACGGGGCCCAGCACTAGAGGAAGACAAGG ATCCCGCCATGAGCAGGCACAAGACAGCTCCAGGCACTCAGCATCCCAAG ACGGTCAGGACACCATTCGTGGACACCCGGGGTCAAGCAGAGGAGGAAGG CAGGGGTACCACCACGAGCATTCGGTAGATAGCTCTGGACACTCAGGGTC CCATCACAGCCACACCACATCCCAGGGAAGGTCTGATGCCTCCCGTGGGC AGTCAGGATCCAGAAGTGCAAGCAGAACAACACGTAATGAGGAACAATCA GGAGACGGCTCCAGGCACTCAGGGTCGCGTCACCATGAAGCTTCCACTCA TGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACAATCAGAGGGGT CCAGGAGAAGCAGGCGCCAGGGATCCAGCGTGAGCCAGGACAGTGACAGT GAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCTGCTTCCAGAAA CCATCATGGATCTGCTCAGGAGCAGCTAAGAGATGGCTCCAGACACCCCA GGTCCCATCAAGAAGACAGAGCTGGTCATGGGCACTCTGCAGACAGCTCC AGACAATCAGGCACTCGTCACACACAGACTTCCTCTGGTGGACAGGCTGC ATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGA	p.Gly others(987): Show p.Gly2975_Glu2976insAspArgHisGlySerHisHisGlnGlnSer AlaAspSerSerArgHisSerGlyIleGlyHisGlyGlnAlaSerSerAl aValArgAspSerGlyHisArgGlyTyrSerGlySerGlnAlaSerAspA snGluGlyHisSerGluAspSerAspThrGlnSerValSerAlaHisGly GlnAlaGlySerHisGlnGlnSerHisGlnGluSerAlaArgGlyArgSe rGlyGluThrSerGlyHisSerGlySerPheLeuTyrGlnValSerThrH isGluGlnSerGluSerSerHisGlyTrpThrGlyProSerThrArgGly ArgGlnGlySerArgHisGluGlnAlaGlnAspSerSerArgHisSerAl aSerGlnAspGlyGlnAspThrIleArgGlyHisProGlySerSerArgG lyGlyArgGlnGlyTyrHisHisGluHisSerValAspSerSerGlyHis SerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSe rArgGlyGlnSerGlySerArgSerAlaSerArgThrThrArgAsnGluG luGlnSerGlyAspGlySerArgHisSerGlySerArgHisHisGluAla SerThrHisAlaAspIleSerArgHisSerGlnAlaValGlnGlyGlnSe rGluGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspS erAspSerGluGlyHisSerGluAspSerGluArgTrpSerGlySerAla SerArgAsnHisHisGlySerAlaGlnGluGlnLeuArgAspGlySerAr gHisProArgSerHisGlnGluAspArgAlaGlyHisGlyHisSerAlaA spSerSerArgGlnSerGlyThrArgHisThrGlnThrSerSerGlyGly GlnAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGly	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8999/12793	8927/12186	2976/4061			chr1	TogoVar
FLG_chr1_152297165_152330239	152306079	T T	TCTTCTTG others(965): Show TCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTG AGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGT CTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGG CGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTG TCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGT GCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCA CTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGT GGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCT CGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGA ATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGC CTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATC CATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGAT CCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTG GCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGT CTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTAC CCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAAT GCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTC TTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCA CCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGC AGAGTGCCCATGACCAGCTCTGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01243.hp1 HG03654.hp1 NA18612.hp2 others(17): Show HG01243.hp1 HG03654.hp1 NA18612.hp2 NA18941.hp2 NA18947.hp1 NA18953.hp1 NA18957.hp2 NA18961.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18991.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19057.hp2 NA19081.hp1 NA19082.hp1 NA19088.hp2 NA19091.hp1	a0006 a0027 a0058 others(2): Show a0006 a0027 a0058 a0113 a0114	a0006c0006 a0006c0136 a0027c0032 others(3): Show a0006c0006 a0006c0136 a0027c0032 a0058c0066 a0113c0179 a0114c0177	a0006c0006t0001 a0006c0136t0001 a0027c0032t0001 others(3): Show a0006c0006t0001 a0006c0136t0001 a0027c0032t0001 a0058c0066t0001 a0113c0179t0001 a0114c0177t0001	a0006c0006t0001g0003 a0006c0136t0001g0124 a0027c0032t0001g0022 others(3): Show a0006c0006t0001g0003 a0006c0136t0001g0124 a0027c0032t0001g0022 a0058c0066t0001g0123 a0113c0179t0001g0126 a0114c0177t0001g0125	20	426	0.0470	972	c.880 others(981): Show c.8806_8807insGCAGAGCTGGTCATGGGCACTCTGCAGACAGCTCCA GACAATCAGGCACTCGTCACACACAGACTTCCTCTGGTGGACAGGCTGCA TCATCCCATGAACAGGCAAGATCAAGTGCAGGAGAAAGACATGGATCCCA CCACCAGCAGTCAGCAGACAGCTCCAGACACTCAGGCATTGGGCACGGAC AAGCTTCATCTGCAGTCAGAGACAGTGGACACCGAGGGTACAGTGGTAGT CAGGCCAGTGACAATGAGGGACATTCAGAAGACTCAGACACACAGTCAGT GTCAGCCCACGGACAGGCTGGGTCCCATCAGCAGAGCCACCAAGAGTCCG CACGTGGCCGGTCAGGGGAAACGTCTGGACATTCAGGATCTTTCCTCTAC CAGGTGAGCACTCATGAACAGTCTGAGTCCTCCCATGGATGGACGGGGCC CAGCACTAGAGGAAGACAAGGATCCCGCCATGAGCAGGCACAAGACAGCT CCAGGCACTCAGCATCCCAAGACGGTCAGGACACCATTCGTGGACACCCG GGGTCAAGCAGAGGAGGAAGGCAGGGGTACCACCACGAGCATTCGGTAGA TAGCTCTGGACACTCAGGGTCCCATCACAGCCACACCACATCCCAGGGAA GGTCTGATGCCTCCCGTGGGCAGTCAGGATCCAGAAGTGCAAGCAGAACA ACACGTAATGAGGAACAATCAGGAGACGGCTCCAGGCACTCAGGGTCGCG TCACCATGAAGCTTCCACTCATGCCGACATCTCTAGACACTCACAGGCAG TCCAGGGACAATCAGAGGGGTCCAGGAGAAGCAGGCGCCAGGGATCCAGT GTTAGCCAGGACAGTGACAGTGAGGGACATTCAGAAGACTCTGAGAGGTG GTCTGGGTCTGCTTCCAGAAACCATCATGGATCTGCTCAGGAGCAGCTAA GAGATGGCTCCAGACACCCCAGGTCCCATCAAGAAG	p.Glu others(987): Show p.Glu2935_Asp2936insGlyArgAlaGlyHisGlyHisSerAlaAsp SerSerArgGlnSerGlyThrArgHisThrGlnThrSerSerGlyGlyGl nAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGlyGluArgHisG lySerHisHisGlnGlnSerAlaAspSerSerArgHisSerGlyIleGly HisGlyGlnAlaSerSerAlaValArgAspSerGlyHisArgGlyTyrSe rGlySerGlnAlaSerAspAsnGluGlyHisSerGluAspSerAspThrG lnSerValSerAlaHisGlyGlnAlaGlySerHisGlnGlnSerHisGln GluSerAlaArgGlyArgSerGlyGluThrSerGlyHisSerGlySerPh eLeuTyrGlnValSerThrHisGluGlnSerGluSerSerHisGlyTrpT hrGlyProSerThrArgGlyArgGlnGlySerArgHisGluGlnAlaGln AspSerSerArgHisSerAlaSerGlnAspGlyGlnAspThrIleArgGl yHisProGlySerSerArgGlyGlyArgGlnGlyTyrHisHisGluHisS erValAspSerSerGlyHisSerGlySerHisHisSerHisThrThrSer GlnGlyArgSerAspAlaSerArgGlyGlnSerGlySerArgSerAlaSe rArgThrThrArgAsnGluGluGlnSerGlyAspGlySerArgHisSerG lySerArgHisHisGluAlaSerThrHisAlaAspIleSerArgHisSer GlnAlaValGlnGlyGlnSerGluGlySerArgArgSerArgArgGlnGl ySerSerValSerGlnAspSerAspSerGluGlyHisSerGluAspSerG luArgTrpSerGlySerAlaSerArgAsnHisHisGlySerAlaGlnGlu GlnLeuArgAspGlySerArgHisProArgSerHisGlnGlu	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8878/12793	8806/12186	2936/4061			chr1	TogoVar
FLG_chr1_152297165_152330239	152306380	T T	TTCTGGAT others(965): Show TTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTG GTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTC GTGGTGGTACACCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAA TGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCC TGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCC ATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATC CTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGG CTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTC TGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACC CTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATG CCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCT TTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCAC CAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCA GAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGA GCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAG ACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCC TGGCTAACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTG TCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTT CATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCA TTACGTGTTGTTCTGCTTGCACG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00597.hp1 HG00597.hp1	a0056 a0056	a0056c0188 a0056c0188	a0056c0188t0001 a0056c0188t0001	a0056c0188t0001g0113 a0056c0188t0001g0113	1	426	0.0024	972	c.850 others(981): Show c.8505_8506insCGTGCAAGCAGAACAACACGTAATGAGGAACAATCA GGAGACGGCTCCAGGCACTCAGGGTCGCGTCACCATGAAGCTTCCACTCA TGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACAATCAGAGGGGT CCAGGAGAAGCAGGCGCCAGGGATCCAGTGTTAGCCAGGACAGTGACAGT GAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCTGCTTCCAGAAA CCATCATGGATCTGCTCAGGAGCAGCTAAGAGATGGCTCCAGACACCCCA GGTCCCATCACGAAGACAGAGCTGGTCATGGGCACTCTGCAGACAGCTCC AGACAATCAGGCACTCGTCACACACAGACTTCCTCTGGTGGACAGGCTGC ATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGAAAGACATGGATCCC ACCACCAGCAGTCAGCAGACAGCTCCAGACACTCAGGCATTGGGCACGGA CAAGCTTCATCTGCAGTCAGAGACAGTGGACACCGAGGGTACAGTGGTAG TCAGGCCAGTGACAATGAGGGACATTCAGAAGACTCAGACACACAGTCAG TGTCAGCCCACGGACAGGCTGGGTCCCATCAGCAGAGCCACCAAGAGTCC GCACGTGGCCGGTCAGGGGAAACGTCTGGACATTCAGGATCTTTCCTCTA CCAGGTGAGCACTCATGAACAGTCTGAGTCCTCCCATGGATGGACGGGGC CCAGCACTAGAGGAAGACAAGGATCCCGCCATGAGCAGGCACAAGACAGC TCCAGGCACTCAGCATCCCAAGATGGTCAGGACACCATTCGTGGACACCC GGGGTCAAGCAGAGGAGGAAGGCAGGTGTACCACCACGAGCATTCGGTAG ATAGCTCTGGACACTCAGGGTCCCATCACAGCCACACCACATCCCAGGGA AGGTCTGATGCCTCCCGTGGGCAGTCAGGATCCAGA	p.Arg others(987): Show p.Arg2835_Ser2836insArgAlaSerArgThrThrArgAsnGluGlu GlnSerGlyAspGlySerArgHisSerGlySerArgHisHisGluAlaSe rThrHisAlaAspIleSerArgHisSerGlnAlaValGlnGlyGlnSerG luGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspSer AspSerGluGlyHisSerGluAspSerGluArgTrpSerGlySerAlaSe rArgAsnHisHisGlySerAlaGlnGluGlnLeuArgAspGlySerArgH isProArgSerHisHisGluAspArgAlaGlyHisGlyHisSerAlaAsp SerSerArgGlnSerGlyThrArgHisThrGlnThrSerSerGlyGlyGl nAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGlyGluArgHisG lySerHisHisGlnGlnSerAlaAspSerSerArgHisSerGlyIleGly HisGlyGlnAlaSerSerAlaValArgAspSerGlyHisArgGlyTyrSe rGlySerGlnAlaSerAspAsnGluGlyHisSerGluAspSerAspThrG lnSerValSerAlaHisGlyGlnAlaGlySerHisGlnGlnSerHisGln GluSerAlaArgGlyArgSerGlyGluThrSerGlyHisSerGlySerPh eLeuTyrGlnValSerThrHisGluGlnSerGluSerSerHisGlyTrpT hrGlyProSerThrArgGlyArgGlnGlySerArgHisGluGlnAlaGln AspSerSerArgHisSerAlaSerGlnAspGlyGlnAspThrIleArgGl yHisProGlySerSerArgGlyGlyArgGlnValTyrHisHisGluHisS erValAspSerSerGlyHisSerGlySerHisHisSerHisThrThrSer GlnGlyArgSerAspAlaSerArgGlyGlnSerGlySerArg	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8577/12793	8505/12186	2835/4061			chr1	TogoVar
FLG_chr1_152297165_152330239	152306380	T T	TTCTGGAT others(965): Show TTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTG GTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTC GTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAA TGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCC TGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCC ATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATC CTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGG CTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTC TGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACC CTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATG CCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCT TTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCAC CAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCGGTCTGCA GAGTGCCCATGACCAGCTCTGCCTTCTTGATGGGACCTGGGGTGTCTGGA GCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAG ACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCC TGGCTAACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTG TCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTT CATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCA TTACGTGTTGTTCTGCTTGCACG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00738.hp2 HG00738.hp2	a0133 a0133	a0133c0160 a0133c0160	a0133c0160t0001 a0133c0160t0001	a0133c0160t0001g0072 a0133c0160t0001g0072	1	426	0.0024	972	c.850 others(981): Show c.8505_8506insCGTGCAAGCAGAACAACACGTAATGAGGAACAATCA GGAGACGGCTCCAGGCACTCAGGGTCGCGTCACCATGAAGCTTCCACTCA TGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACAATCAGAGGGGT CCAGGAGAAGCAGGCGCCAGGGATCCAGTGTTAGCCAGGACAGTGACAGT GAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCTGCTTCCAGAAA CCATCATGGATCTGCTCAGGAGCAGCTAAGAGATGGCTCCAGACACCCCA GGTCCCATCAAGAAGGCAGAGCTGGTCATGGGCACTCTGCAGACCGCTCC AGACAATCAGGCACTCGTCACACACAGACTTCCTCTGGTGGACAGGCTGC ATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGAAAGACATGGATCCC ACCACCAGCAGTCAGCAGACAGCTCCAGACACTCAGGCATTGGGCACGGA CAAGCTTCATCTGCAGTCAGAGACAGTGGACACCGAGGGTACAGTGGTAG TCAGGCCAGTGACAATGAGGGACATTCAGAAGACTCAGACACACAGTCAG TGTCAGCCCACGGACAGGCTGGGTCCCATCAGCAGAGCCACCAAGAGTCC GCACGTGGCCGGTCAGGGGAAACGTCTGGACATTCAGGATCTTTCCTCTA CCAGGTGAGCACTCATGAACAGTCTGAGTCCTCCCATGGATGGACGGGGC CCAGCACTAGAGGAAGACAAGGATCCCGCCATGAGCAGGCACAAGACAGC TCCAGGCACTCAGCATCCCAAGATGGTCAGGACACCATTCGTGGACACCC GGGGTCAAGCAGAGGAGGAAGGCAGGGGTACCACCACGAGCATTCGGTAG ATAGCTCTGGACACTCAGGGTCCCATCACAGCCACACCACATCCCAGGGA AGGTCTGATGCCTCCCGTGGGCAGTCAGGATCCAGA	p.Arg others(987): Show p.Arg2835_Ser2836insArgAlaSerArgThrThrArgAsnGluGlu GlnSerGlyAspGlySerArgHisSerGlySerArgHisHisGluAlaSe rThrHisAlaAspIleSerArgHisSerGlnAlaValGlnGlyGlnSerG luGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspSer AspSerGluGlyHisSerGluAspSerGluArgTrpSerGlySerAlaSe rArgAsnHisHisGlySerAlaGlnGluGlnLeuArgAspGlySerArgH isProArgSerHisGlnGluGlyArgAlaGlyHisGlyHisSerAlaAsp ArgSerArgGlnSerGlyThrArgHisThrGlnThrSerSerGlyGlyGl nAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGlyGluArgHisG lySerHisHisGlnGlnSerAlaAspSerSerArgHisSerGlyIleGly HisGlyGlnAlaSerSerAlaValArgAspSerGlyHisArgGlyTyrSe rGlySerGlnAlaSerAspAsnGluGlyHisSerGluAspSerAspThrG lnSerValSerAlaHisGlyGlnAlaGlySerHisGlnGlnSerHisGln GluSerAlaArgGlyArgSerGlyGluThrSerGlyHisSerGlySerPh eLeuTyrGlnValSerThrHisGluGlnSerGluSerSerHisGlyTrpT hrGlyProSerThrArgGlyArgGlnGlySerArgHisGluGlnAlaGln AspSerSerArgHisSerAlaSerGlnAspGlyGlnAspThrIleArgGl yHisProGlySerSerArgGlyGlyArgGlnGlyTyrHisHisGluHisS erValAspSerSerGlyHisSerGlySerHisHisSerHisThrThrSer GlnGlyArgSerAspAlaSerArgGlyGlnSerGlySerArg	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8577/12793	8505/12186	2835/4061			chr1	TogoVar
FLG_chr1_152297165_152330239	152306380	T T	TTCTGGAT others(965): Show TTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTG GTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTC GTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAA TGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCC TGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCC ATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATC CTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGG CTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTC TGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACC CTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATG CCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCT TTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCAC CAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCA GAGTGCCCATGACCAGCTCTGCCTTCTTGATGGGACCTGGGGTGTCTGGA GCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAG ACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCC TGGCTAACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTG TCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTT CATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCA TTACGTGTTGTTCTGCTTGCACG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(130): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02602.hp2 HG02735.hp2 HG02738.hp1 HG03239.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2	a0001 a0004 a0011 others(39): Show a0001 a0004 a0011 a0014 a0015 a0016 a0017 a0028 a0029 a0030 a0031 a0048 a0049 a0051 a0052 a0057 a0116 a0118 a0119 a0120 a0121 a0122 a0124 a0125 a0126 a0127 a0128 a0130 a0131 a0135 a0136 a0137 a0138 a0140 a0147 a0148 a0149 a0150 a0151 a0152 a0153 a0154	a0001c0001 a0001c0058 a0001c0170 others(43): Show a0001c0001 a0001c0058 a0001c0170 a0004c0004 a0004c0031 a0011c0011 a0011c0175 a0014c0017 a0015c0018 a0016c0013 a0017c0016 a0028c0019 a0029c0030 a0030c0029 a0031c0028 a0048c0055 a0049c0060 a0051c0057 a0052c0056 a0057c0187 a0116c0171 a0118c0169 a0119c0141 a0120c0143 a0121c0142 a0122c0166 a0124c0145 a0125c0147 a0126c0165 a0127c0148 a0128c0163 a0130c0146 a0131c0172 a0135c0158 a0136c0156 a0137c0157 a0138c0155 a0140c0159 a0147c0162 a0148c0164 a0149c0173 a0150c0167 a0151c0140 a0152c0176 a0153c0139 a0154c0138	a0001c0001t0001 a0001c0058t0001 a0001c0170t0001 others(43): Show a0001c0001t0001 a0001c0058t0001 a0001c0170t0001 a0004c0004t0001 a0004c0031t0001 a0011c0011t0001 a0011c0175t0001 a0014c0017t0001 a0015c0018t0001 a0016c0013t0001 a0017c0016t0001 a0028c0019t0001 a0029c0030t0001 a0030c0029t0001 a0031c0028t0001 a0048c0055t0001 a0049c0060t0001 a0051c0057t0001 a0052c0056t0001 a0057c0187t0001 a0116c0171t0001 a0118c0169t0001 a0119c0141t0001 a0120c0143t0001 a0121c0142t0001 a0122c0166t0001 a0124c0145t0001 a0125c0147t0001 a0126c0165t0001 a0127c0148t0001 a0128c0163t0001 a0130c0146t0001 a0131c0172t0001 a0135c0158t0001 a0136c0156t0001 a0137c0157t0001 a0138c0155t0001 a0140c0159t0001 a0147c0162t0001 a0148c0164t0001 a0149c0173t0001 a0150c0167t0001 a0151c0140t0001 a0152c0176t0001 a0153c0139t0001 a0154c0138t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0017 others(62): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0058t0001g0036 a0001c0170t0001g0106 a0004c0004t0001g0005 a0004c0004t0001g0009 a0004c0004t0001g0097 a0004c0004t0001g0119 a0004c0031t0001g0018 a0011c0011t0001g0020 a0011c0011t0001g0069 a0011c0011t0001g0117 a0011c0175t0001g0111 a0014c0017t0001g0023 a0014c0017t0001g0086 a0015c0018t0001g0014 a0016c0013t0001g0012 a0017c0016t0001g0013 a0028c0019t0001g0021 a0029c0030t0001g0019 a0030c0029t0001g0040 a0030c0029t0001g0096 a0031c0028t0001g0035 a0031c0028t0001g0116 a0048c0055t0001g0033 a0049c0060t0001g0039 a0051c0057t0001g0073 a0051c0057t0001g0098 a0052c0056t0001g0034 a0057c0187t0001g0128 a0116c0171t0001g0107 a0118c0169t0001g0105 a0119c0141t0001g0127 a0120c0143t0001g0088 a0121c0142t0001g0087 a0122c0166t0001g0104 a0124c0145t0001g0090 a0125c0147t0001g0092 a0126c0165t0001g0103 a0127c0148t0001g0075 a0128c0163t0001g0068 a0130c0146t0001g0091 a0131c0172t0001g0108 a0135c0158t0001g0067 a0136c0156t0001g0077 a0137c0157t0001g0070 a0138c0155t0001g0078 a0140c0159t0001g0099 a0147c0162t0001g0101 a0148c0164t0001g0102 a0149c0173t0001g0109 a0150c0167t0001g0130 a0151c0140t0001g0085 a0152c0176t0001g0112 a0153c0139t0001g0084 a0154c0138t0001g0083	133	426	0.3122	972	c.850 others(981): Show c.8505_8506insCGTGCAAGCAGAACAACACGTAATGAGGAACAATCA GGAGACGGCTCCAGGCACTCAGGGTCGCGTCACCATGAAGCTTCCACTCA TGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACAATCAGAGGGGT CCAGGAGAAGCAGGCGCCAGGGATCCAGTGTTAGCCAGGACAGTGACAGT GAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCTGCTTCCAGAAA CCATCATGGATCTGCTCAGGAGCAGCTAAGAGATGGCTCCAGACACCCCA GGTCCCATCAAGAAGGCAGAGCTGGTCATGGGCACTCTGCAGACAGCTCC AGACAATCAGGCACTCGTCACACACAGACTTCCTCTGGTGGACAGGCTGC ATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGAAAGACATGGATCCC ACCACCAGCAGTCAGCAGACAGCTCCAGACACTCAGGCATTGGGCACGGA CAAGCTTCATCTGCAGTCAGAGACAGTGGACACCGAGGGTACAGTGGTAG TCAGGCCAGTGACAATGAGGGACATTCAGAAGACTCAGACACACAGTCAG TGTCAGCCCACGGACAGGCTGGGTCCCATCAGCAGAGCCACCAAGAGTCC GCACGTGGCCGGTCAGGGGAAACGTCTGGACATTCAGGATCTTTCCTCTA CCAGGTGAGCACTCATGAACAGTCTGAGTCCTCCCATGGATGGACGGGGC CCAGCACTAGAGGAAGACAAGGATCCCGCCATGAGCAGGCACAAGACAGC TCCAGGCACTCAGCATCCCAAGATGGTCAGGACACCATTCGTGGACACCC GGGGTCAAGCAGAGGAGGAAGGCAGGGGTACCACCACGAGCATTCGGTAG ATAGCTCTGGACACTCAGGGTCCCATCACAGCCACACCACATCCCAGGGA AGGTCTGATGCCTCCCGTGGGCAGTCAGGATCCAGA	p.Arg others(987): Show p.Arg2835_Ser2836insArgAlaSerArgThrThrArgAsnGluGlu GlnSerGlyAspGlySerArgHisSerGlySerArgHisHisGluAlaSe rThrHisAlaAspIleSerArgHisSerGlnAlaValGlnGlyGlnSerG luGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspSer AspSerGluGlyHisSerGluAspSerGluArgTrpSerGlySerAlaSe rArgAsnHisHisGlySerAlaGlnGluGlnLeuArgAspGlySerArgH isProArgSerHisGlnGluGlyArgAlaGlyHisGlyHisSerAlaAsp SerSerArgGlnSerGlyThrArgHisThrGlnThrSerSerGlyGlyGl nAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGlyGluArgHisG lySerHisHisGlnGlnSerAlaAspSerSerArgHisSerGlyIleGly HisGlyGlnAlaSerSerAlaValArgAspSerGlyHisArgGlyTyrSe rGlySerGlnAlaSerAspAsnGluGlyHisSerGluAspSerAspThrG lnSerValSerAlaHisGlyGlnAlaGlySerHisGlnGlnSerHisGln GluSerAlaArgGlyArgSerGlyGluThrSerGlyHisSerGlySerPh eLeuTyrGlnValSerThrHisGluGlnSerGluSerSerHisGlyTrpT hrGlyProSerThrArgGlyArgGlnGlySerArgHisGluGlnAlaGln AspSerSerArgHisSerAlaSerGlnAspGlyGlnAspThrIleArgGl yHisProGlySerSerArgGlyGlyArgGlnGlyTyrHisHisGluHisS erValAspSerSerGlyHisSerGlySerHisHisSerHisThrThrSer GlnGlyArgSerAspAlaSerArgGlyGlnSerGlySerArg	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8577/12793	8505/12186	2835/4061			chr1	TogoVar
FLG_chr1_152297165_152330239	152306380	T T	TTCTGGAT others(965): Show TTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTG GTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTC GTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAA TGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCC TGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCC ATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATC CTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGG CTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTC TGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACC CTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATG CCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCT TTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCAC CAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCA GAGTGCCCATGACCAGCTCTGCCTTCTTGATGGGACCTGGGGTGTCTGGA GCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAG ACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCC TGGCTAACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTG TCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGTTT CATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCA TTACGTGTTGTTCTGCTTGCACG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03017.hp2 HG03017.hp2	a0144 a0144	a0144c0151 a0144c0151	a0144c0151t0001 a0144c0151t0001	a0144c0151t0001g0093 a0144c0151t0001g0093	1	426	0.0024	972	c.850 others(981): Show c.8505_8506insCGTGCAAGCAGAACAACACGTAATGAGGAACAATCA GGAGACGGCTCCAGGCACTCAGGGTCGCGTCACCATGAAACTTCCACTCA TGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACAATCAGAGGGGT CCAGGAGAAGCAGGCGCCAGGGATCCAGTGTTAGCCAGGACAGTGACAGT GAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCTGCTTCCAGAAA CCATCATGGATCTGCTCAGGAGCAGCTAAGAGATGGCTCCAGACACCCCA GGTCCCATCAAGAAGGCAGAGCTGGTCATGGGCACTCTGCAGACAGCTCC AGACAATCAGGCACTCGTCACACACAGACTTCCTCTGGTGGACAGGCTGC ATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGAAAGACATGGATCCC ACCACCAGCAGTCAGCAGACAGCTCCAGACACTCAGGCATTGGGCACGGA CAAGCTTCATCTGCAGTCAGAGACAGTGGACACCGAGGGTACAGTGGTAG TCAGGCCAGTGACAATGAGGGACATTCAGAAGACTCAGACACACAGTCAG TGTCAGCCCACGGACAGGCTGGGTCCCATCAGCAGAGCCACCAAGAGTCC GCACGTGGCCGGTCAGGGGAAACGTCTGGACATTCAGGATCTTTCCTCTA CCAGGTGAGCACTCATGAACAGTCTGAGTCCTCCCATGGATGGACGGGGC CCAGCACTAGAGGAAGACAAGGATCCCGCCATGAGCAGGCACAAGACAGC TCCAGGCACTCAGCATCCCAAGATGGTCAGGACACCATTCGTGGACACCC GGGGTCAAGCAGAGGAGGAAGGCAGGGGTACCACCACGAGCATTCGGTAG ATAGCTCTGGACACTCAGGGTCCCATCACAGCCACACCACATCCCAGGGA AGGTCTGATGCCTCCCGTGGGCAGTCAGGATCCAGA	p.Arg others(987): Show p.Arg2835_Ser2836insArgAlaSerArgThrThrArgAsnGluGlu GlnSerGlyAspGlySerArgHisSerGlySerArgHisHisGluThrSe rThrHisAlaAspIleSerArgHisSerGlnAlaValGlnGlyGlnSerG luGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspSer AspSerGluGlyHisSerGluAspSerGluArgTrpSerGlySerAlaSe rArgAsnHisHisGlySerAlaGlnGluGlnLeuArgAspGlySerArgH isProArgSerHisGlnGluGlyArgAlaGlyHisGlyHisSerAlaAsp SerSerArgGlnSerGlyThrArgHisThrGlnThrSerSerGlyGlyGl nAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGlyGluArgHisG lySerHisHisGlnGlnSerAlaAspSerSerArgHisSerGlyIleGly HisGlyGlnAlaSerSerAlaValArgAspSerGlyHisArgGlyTyrSe rGlySerGlnAlaSerAspAsnGluGlyHisSerGluAspSerAspThrG lnSerValSerAlaHisGlyGlnAlaGlySerHisGlnGlnSerHisGln GluSerAlaArgGlyArgSerGlyGluThrSerGlyHisSerGlySerPh eLeuTyrGlnValSerThrHisGluGlnSerGluSerSerHisGlyTrpT hrGlyProSerThrArgGlyArgGlnGlySerArgHisGluGlnAlaGln AspSerSerArgHisSerAlaSerGlnAspGlyGlnAspThrIleArgGl yHisProGlySerSerArgGlyGlyArgGlnGlyTyrHisHisGluHisS erValAspSerSerGlyHisSerGlySerHisHisSerHisThrThrSer GlnGlyArgSerAspAlaSerArgGlyGlnSerGlySerArg	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8577/12793	8505/12186	2835/4061			chr1	TogoVar
FLG_chr1_152297165_152330239	152306380	T T	TTCTGGAT others(965): Show TTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTG GTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTC GTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAA TGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCC TGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCC ATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATC CTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGG CTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTC TGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACC CTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATG CCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCT TTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCAC CAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCA GAGTGCCCATGACCAGCTCTGCCTTCTTGATGGGACCTGGGGTGTCTGGA GCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAG ACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCC TGGCTAACACTGGATCCCTGGTGCCTGCTTCTCCTGGACCCCTCTGATTG TCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTT CATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCA TTACGTGTTGTTCTGCTTGCACG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02027.hp1 HG02027.hp1	a0123 a0123	a0123c0144 a0123c0144	a0123c0144t0001 a0123c0144t0001	a0123c0144t0001g0089 a0123c0144t0001g0089	1	426	0.0024	972	c.850 others(981): Show c.8505_8506insCGTGCAAGCAGAACAACACGTAATGAGGAACAATCA GGAGACGGCTCCAGGCACTCAGGGTCGCGTCACCATGAAGCTTCCACTCA TGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACAATCAGAGGGGT CCAGGAGAAGCAGGCACCAGGGATCCAGTGTTAGCCAGGACAGTGACAGT GAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCTGCTTCCAGAAA CCATCATGGATCTGCTCAGGAGCAGCTAAGAGATGGCTCCAGACACCCCA GGTCCCATCAAGAAGGCAGAGCTGGTCATGGGCACTCTGCAGACAGCTCC AGACAATCAGGCACTCGTCACACACAGACTTCCTCTGGTGGACAGGCTGC ATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGAAAGACATGGATCCC ACCACCAGCAGTCAGCAGACAGCTCCAGACACTCAGGCATTGGGCACGGA CAAGCTTCATCTGCAGTCAGAGACAGTGGACACCGAGGGTACAGTGGTAG TCAGGCCAGTGACAATGAGGGACATTCAGAAGACTCAGACACACAGTCAG TGTCAGCCCACGGACAGGCTGGGTCCCATCAGCAGAGCCACCAAGAGTCC GCACGTGGCCGGTCAGGGGAAACGTCTGGACATTCAGGATCTTTCCTCTA CCAGGTGAGCACTCATGAACAGTCTGAGTCCTCCCATGGATGGACGGGGC CCAGCACTAGAGGAAGACAAGGATCCCGCCATGAGCAGGCACAAGACAGC TCCAGGCACTCAGCATCCCAAGATGGTCAGGACACCATTCGTGGACACCC GGGGTCAAGCAGAGGAGGAAGGCAGGGGTACCACCACGAGCATTCGGTAG ATAGCTCTGGACACTCAGGGTCCCATCACAGCCACACCACATCCCAGGGA AGGTCTGATGCCTCCCGTGGGCAGTCAGGATCCAGA	p.Arg others(987): Show p.Arg2835_Ser2836insArgAlaSerArgThrThrArgAsnGluGlu GlnSerGlyAspGlySerArgHisSerGlySerArgHisHisGluAlaSe rThrHisAlaAspIleSerArgHisSerGlnAlaValGlnGlyGlnSerG luGlySerArgArgSerArgHisGlnGlySerSerValSerGlnAspSer AspSerGluGlyHisSerGluAspSerGluArgTrpSerGlySerAlaSe rArgAsnHisHisGlySerAlaGlnGluGlnLeuArgAspGlySerArgH isProArgSerHisGlnGluGlyArgAlaGlyHisGlyHisSerAlaAsp SerSerArgGlnSerGlyThrArgHisThrGlnThrSerSerGlyGlyGl nAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGlyGluArgHisG lySerHisHisGlnGlnSerAlaAspSerSerArgHisSerGlyIleGly HisGlyGlnAlaSerSerAlaValArgAspSerGlyHisArgGlyTyrSe rGlySerGlnAlaSerAspAsnGluGlyHisSerGluAspSerAspThrG lnSerValSerAlaHisGlyGlnAlaGlySerHisGlnGlnSerHisGln GluSerAlaArgGlyArgSerGlyGluThrSerGlyHisSerGlySerPh eLeuTyrGlnValSerThrHisGluGlnSerGluSerSerHisGlyTrpT hrGlyProSerThrArgGlyArgGlnGlySerArgHisGluGlnAlaGln AspSerSerArgHisSerAlaSerGlnAspGlyGlnAspThrIleArgGl yHisProGlySerSerArgGlyGlyArgGlnGlyTyrHisHisGluHisS erValAspSerSerGlyHisSerGlySerHisHisSerHisThrThrSer GlnGlyArgSerAspAlaSerArgGlyGlnSerGlySerArg	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8577/12793	8505/12186	2835/4061			chr1	TogoVar
FLG_chr1_152297165_152330239	152306380	T T	TTCTGGAT others(965): Show TTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTG GTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTC GTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAA TGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCC TGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCC ATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATC CTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGG CTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTC TGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACC CTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTGCGTGCCCAATG CCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCT TTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCAC CAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCA GAGTGCCCATGACCAGCTCTGCCTTCTTGATGGGACCTGGGGTGTCTGGA GCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAG ACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCC TGGCTAACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTG TCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTT CATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCA TTACGTGTTGTTCTGCTTGCACG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18961.hp1 NA19003.hp2 NA18961.hp1 NA19003.hp2	a0117 a0134 a0117 a0134	a0117c0168 a0134c0152 a0117c0168 a0134c0152	a0117c0168t0001 a0134c0152t0001 a0117c0168t0001 a0134c0152t0001	a0117c0168t0001g0121 a0134c0152t0001g0120 a0117c0168t0001g0121 a0134c0152t0001g0120	2	426	0.0047	972	c.850 others(981): Show c.8505_8506insCGTGCAAGCAGAACAACACGTAATGAGGAACAATCA GGAGACGGCTCCAGGCACTCAGGGTCGCGTCACCATGAAGCTTCCACTCA TGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACAATCAGAGGGGT CCAGGAGAAGCAGGCGCCAGGGATCCAGTGTTAGCCAGGACAGTGACAGT GAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCTGCTTCCAGAAA CCATCATGGATCTGCTCAGGAGCAGCTAAGAGATGGCTCCAGACACCCCA GGTCCCATCAAGAAGGCAGAGCTGGTCATGGGCACTCTGCAGACAGCTCC AGACAATCAGGCACTCGTCACACACAGACTTCCTCTGGTGGACAGGCTGC ATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGAAAGACATGGATCCC ACCACCAGCAGTCAGCAGACAGCTCCAGACACTCAGGCATTGGGCACGCA CAAGCTTCATCTGCAGTCAGAGACAGTGGACACCGAGGGTACAGTGGTAG TCAGGCCAGTGACAATGAGGGACATTCAGAAGACTCAGACACACAGTCAG TGTCAGCCCACGGACAGGCTGGGTCCCATCAGCAGAGCCACCAAGAGTCC GCACGTGGCCGGTCAGGGGAAACGTCTGGACATTCAGGATCTTTCCTCTA CCAGGTGAGCACTCATGAACAGTCTGAGTCCTCCCATGGATGGACGGGGC CCAGCACTAGAGGAAGACAAGGATCCCGCCATGAGCAGGCACAAGACAGC TCCAGGCACTCAGCATCCCAAGATGGTCAGGACACCATTCGTGGACACCC GGGGTCAAGCAGAGGAGGAAGGCAGGGGTACCACCACGAGCATTCGGTAG ATAGCTCTGGACACTCAGGGTCCCATCACAGCCACACCACATCCCAGGGA AGGTCTGATGCCTCCCGTGGGCAGTCAGGATCCAGA	p.Arg others(987): Show p.Arg2835_Ser2836insArgAlaSerArgThrThrArgAsnGluGlu GlnSerGlyAspGlySerArgHisSerGlySerArgHisHisGluAlaSe rThrHisAlaAspIleSerArgHisSerGlnAlaValGlnGlyGlnSerG luGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspSer AspSerGluGlyHisSerGluAspSerGluArgTrpSerGlySerAlaSe rArgAsnHisHisGlySerAlaGlnGluGlnLeuArgAspGlySerArgH isProArgSerHisGlnGluGlyArgAlaGlyHisGlyHisSerAlaAsp SerSerArgGlnSerGlyThrArgHisThrGlnThrSerSerGlyGlyGl nAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGlyGluArgHisG lySerHisHisGlnGlnSerAlaAspSerSerArgHisSerGlyIleGly HisAlaGlnAlaSerSerAlaValArgAspSerGlyHisArgGlyTyrSe rGlySerGlnAlaSerAspAsnGluGlyHisSerGluAspSerAspThrG lnSerValSerAlaHisGlyGlnAlaGlySerHisGlnGlnSerHisGln GluSerAlaArgGlyArgSerGlyGluThrSerGlyHisSerGlySerPh eLeuTyrGlnValSerThrHisGluGlnSerGluSerSerHisGlyTrpT hrGlyProSerThrArgGlyArgGlnGlySerArgHisGluGlnAlaGln AspSerSerArgHisSerAlaSerGlnAspGlyGlnAspThrIleArgGl yHisProGlySerSerArgGlyGlyArgGlnGlyTyrHisHisGluHisS erValAspSerSerGlyHisSerGlySerHisHisSerHisThrThrSer GlnGlyArgSerAspAlaSerArgGlyGlnSerGlySerArg	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8577/12793	8505/12186	2835/4061			chr1	TogoVar
FLG_chr1_152297165_152330239	152306380	T T	TTCTGGAT others(965): Show TTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTG GTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTC GTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAA TGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCC TGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCC ATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATC CTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGG CTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTC TGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACC CTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATG CCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCT TTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCAC CAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCA GAGTGCCCATGACCAGCTCTGCCTTCTTGATGGGACCTGGGGTGTCTGGA GCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAG ACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCC TGGCTAACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTG TCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTT CATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCA TTACGTGTTGTTCTGCTTGCACG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18986.hp2 NA18986.hp2	a0143 a0143	a0143c0153 a0143c0153	a0143c0153t0001 a0143c0153t0001	a0143c0153t0001g0094 a0143c0153t0001g0094	1	426	0.0024	972	c.850 others(981): Show c.8505_8506insCGTGCAAGCAGAACAACACGTAATGAGGAACAATCA GGAGACGGCTCCAGGCACTCAGGGTCGCGTCACCATGAAGCTTCCACTCA TGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACAATCAGAGGGGT CCAGGAGAAGCAGGCGCCAGGGATCCAGTGTTAGCCAGGACAGTGACAGT GAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCTGCTTCCAGAAA CCATCATGGATCTGCTCAGGAGCAGCTAAGAGATGGCTCCAGACACCCCA GGTCCCATCAAGAAGGCAGAGCTGGTCATGGGCACTCTGCAGACAGCTCC AGACAATCAGGCACTCGTCACACACAGACTTCCTCTGGTGGACAGGCTGC ATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGAAAGACATGGATCCC ACCACCAGCAGTCAGCAGACAGCTCCAGACACTCAGGCATTGGGCACGGA CAAGCTTCATCTGCAGTCAGAGACAGTGGACACCGAGGGTACAGTGGTAG TCAGGCCAGTGACAATGAGGGACATTCAGAAGACTCAGACACACAGTCAG TGTCAGCCCACGGACAGGCTGGGTCCCATCAGCAGAGCCACCAAGAGTCC GCACGTGGCCGGTCAGGGGAAACGTCTGGACATTCAGGATCTTTCCTCTA CCAGGTGAGCACTCATGAACAGTCTGAGTCCACCCATGGATGGACGGGGC CCAGCACTAGAGGAAGACAAGGATCCCGCCATGAGCAGGCACAAGACAGC TCCAGGCACTCAGCATCCCAAGATGGTCAGGACACCATTCGTGGACACCC GGGGTCAAGCAGAGGAGGAAGGCAGGGGTACCACCACGAGCATTCGGTAG ATAGCTCTGGACACTCAGGGTCCCATCACAGCCACACCACATCCCAGGGA AGGTCTGATGCCTCCCGTGGGCAGTCAGGATCCAGA	p.Arg others(987): Show p.Arg2835_Ser2836insArgAlaSerArgThrThrArgAsnGluGlu GlnSerGlyAspGlySerArgHisSerGlySerArgHisHisGluAlaSe rThrHisAlaAspIleSerArgHisSerGlnAlaValGlnGlyGlnSerG luGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspSer AspSerGluGlyHisSerGluAspSerGluArgTrpSerGlySerAlaSe rArgAsnHisHisGlySerAlaGlnGluGlnLeuArgAspGlySerArgH isProArgSerHisGlnGluGlyArgAlaGlyHisGlyHisSerAlaAsp SerSerArgGlnSerGlyThrArgHisThrGlnThrSerSerGlyGlyGl nAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGlyGluArgHisG lySerHisHisGlnGlnSerAlaAspSerSerArgHisSerGlyIleGly HisGlyGlnAlaSerSerAlaValArgAspSerGlyHisArgGlyTyrSe rGlySerGlnAlaSerAspAsnGluGlyHisSerGluAspSerAspThrG lnSerValSerAlaHisGlyGlnAlaGlySerHisGlnGlnSerHisGln GluSerAlaArgGlyArgSerGlyGluThrSerGlyHisSerGlySerPh eLeuTyrGlnValSerThrHisGluGlnSerGluSerThrHisGlyTrpT hrGlyProSerThrArgGlyArgGlnGlySerArgHisGluGlnAlaGln AspSerSerArgHisSerAlaSerGlnAspGlyGlnAspThrIleArgGl yHisProGlySerSerArgGlyGlyArgGlnGlyTyrHisHisGluHisS erValAspSerSerGlyHisSerGlySerHisHisSerHisThrThrSer GlnGlyArgSerAspAlaSerArgGlyGlnSerGlySerArg	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8577/12793	8505/12186	2835/4061			chr1	TogoVar
FLG_chr1_152297165_152330239	152306400	C C	CGGGAGGC others(965): Show CGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCC TGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTC CTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGG GATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTG TCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTT CATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCC CCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGC CTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCT CATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTG ACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTC TGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTG CCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGA CGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCT GCCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCT GAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAG TCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTG GCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGT GTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAG TGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGC ACGTCTGGATCCTGACTGCCCAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00741.hp1 HG00741.hp1	a0132 a0132	a0132c0150 a0132c0150	a0132c0150t0001 a0132c0150t0001	a0132c0150t0001g0071 a0132c0150t0001g0071	1	426	0.0024	972	c.848 others(981): Show c.8485_8486insATGGGCAGTCAGGATCCAGACGTGCAAGCAGAACAA CACGTAATGAGGAACAATCAGGAGACGGCTCCAGGCACTCAGGGTCGCGT CACCATGAAGCTTCCACTCATGCCGACATCTCTAGACACTCACAGGCAGT CCAGGGACAATCAGAGGGGTCCAGGAGAAGCAGGCGCCAGGGATCCAGTG TTAGCCAGGACAGTGACAGTGAGGGACATTCAGAAGACTCTGAGAGGTGG TCTGGGTCTGCTTCCAGAAACCATCATGGATCTGCTCAGGAGCAGCTAAG AGATGGCTCCAGACACCCCAGGTCCCATCAAGAAGGCAGAGCTGGTCATG GGCACTCTGCAGACAGCTCCAGACAATCAGGCACTCGTCACACACAGACT TCCTCTGGTGGACAGGCTGCATCATCCCATGAACAGGCAAGATCAAGTGC AGGAGAAAGACATGGATCCCACCACCAGCAGTCAGCAGACAGCTCCAGAC ACTCAGGCATTGGGCACGGACAAGCTTCATCTGCAGTCAGAGACAGTGGA CACCGAGGGTACAGTGGTAGTCAGGCCAGTGACAATGAGGGACATTCAGA AGACTCAGACACACAGTCAGTGTCAGCCCACGGACAGGCTGGGTCCCATC AGCAGAGCCACCAAGAGTCCGCACGTGGCCGGTCAGGGGAAACGTCTGGA CATTCAGGATCTTTCCTCTACCAGGTGAGCACTCATGAACAGTCTGAGTC CTCCCATGGATGGACGGGGCCCAGCACTAGAGGAAGACAAGGATCCCGCC ATGAGCAGGCACAAGACAGCTCCAGGCACTCAGCATCCCAAGATGGTCAG GACACCATTCGTGGACACCCGGGGTCAAGCAGAGGAGGAAGGCAGGGGTA CCACCACGAGCATTCGGTAGATAGCTCTGGACACTCAGGGTCCCATCACA GCCACACCACATCCCAGGGAAGGTCTGATGCCTCCC	p.Ser others(987): Show p.Ser2828_Arg2829insHisGlyGlnSerGlySerArgArgAlaSer ArgThrThrArgAsnGluGluGlnSerGlyAspGlySerArgHisSerGl ySerArgHisHisGluAlaSerThrHisAlaAspIleSerArgHisSerG lnAlaValGlnGlyGlnSerGluGlySerArgArgSerArgArgGlnGly SerSerValSerGlnAspSerAspSerGluGlyHisSerGluAspSerGl uArgTrpSerGlySerAlaSerArgAsnHisHisGlySerAlaGlnGluG lnLeuArgAspGlySerArgHisProArgSerHisGlnGluGlyArgAla GlyHisGlyHisSerAlaAspSerSerArgGlnSerGlyThrArgHisTh rGlnThrSerSerGlyGlyGlnAlaAlaSerSerHisGluGlnAlaArgS erSerAlaGlyGluArgHisGlySerHisHisGlnGlnSerAlaAspSer SerArgHisSerGlyIleGlyHisGlyGlnAlaSerSerAlaValArgAs pSerGlyHisArgGlyTyrSerGlySerGlnAlaSerAspAsnGluGlyH isSerGluAspSerAspThrGlnSerValSerAlaHisGlyGlnAlaGly SerHisGlnGlnSerHisGlnGluSerAlaArgGlyArgSerGlyGluTh rSerGlyHisSerGlySerPheLeuTyrGlnValSerThrHisGluGlnS erGluSerSerHisGlyTrpThrGlyProSerThrArgGlyArgGlnGly SerArgHisGluGlnAlaGlnAspSerSerArgHisSerAlaSerGlnAs pGlyGlnAspThrIleArgGlyHisProGlySerSerArgGlyGlyArgG lnGlyTyrHisHisGluHisSerValAspSerSerGlyHisSerGlySer HisHisSerHisThrThrSerGlnGlyArgSerAspAlaSer	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8557/12793	8485/12186	2829/4061			chr1	TogoVar
FLG_chr1_152297165_152330239	152306538	T T	TGACCGTC others(965): Show TGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATG GCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGG ACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGT CCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTG ATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTT CTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGT CCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTG TCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTGTCTCCTG CACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAA GTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCC ATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTC TTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGAC CACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCAC ACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGA CTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGA CGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGT TGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACC TTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTA TCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCC CGGGTGTCCACGAATGGTGTCCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03704.hp2 HG03704.hp2	a0089 a0089	a0089c0079 a0089c0079	a0089c0079t0001 a0089c0079t0001	a0089c0079t0001g0220 a0089c0079t0001g0220	1	426	0.0024	972	c.834 others(981): Show c.8347_8348insCGGACACCATTCGTGGACACCCGGGGTCAAGCAGAG GAGGAAGGCAGGGGTACCACCACGAGCATTCGGTAGATAGCTCTGGACAC TCAGGGTCCCATCACAGCCACACCACATCCCAGGGAAGGTCTGATGCCTC CCGTGGGCAGTCAGGATCCAGAAGTGCAAGCAGAACAACACGTAATGAGG AACAATCAGGAGACGGCTCCAGGCACTCAGGGTCGCGTCACCATGAAGCT TCCACTCATGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACAATC AGAGGGGTCCAGGAGAAGCAGGCGCCAGGGATCCAGTGTGAGCCAGGACA GTGACAGTGAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCTGCT TCCAGAAACCATCATGGATCTGCTCAGGAGCAGCTAAGAGATGGCTCCAG ACACCCCAGGTCCCATCAAGAAGACAGAGCTGGTCATGGGCACTCTGCAG ACAGCTCCAGACAATCAGGCACTCGTCACACACAGACTTCCTCTGGTGGA CAGGCTGCATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGACAGACA TGGATCCCACCACCAGCAGTCAGCAGACAGCTCCAGACACTCAGGCATTG GGCACGGACAAGCTTCATCTGCAGTCAGAGACAGTGGACACCGAGGGTAC AGTGGTAGTCAGGCCAGTGACAATGAGGGACATTCAGAAGACTCAGACAC ACAGTCAGTGTCAGCCCACGGACAGGCTGGGTCCCATCAGCAGAGCCACC AAGAGTCCGCACGTGGCCGGTCAGGGGAAACGTCTGGACATTCAGGATCT TTCCTCTACCAGGTGAGCACTCATGAACAGTCTGAGTCCTCCCATGGATG GACGGGGCCCAGCACTAGAGGAAGACAAGGATCCCGCCATGAGCAGGCAC AAGACAGCTCCAGGCACTCAGCATCCCAAGACGGTC	p.Gly others(987): Show p.Gly2782_Gln2783insProAspThrIleArgGlyHisProGlySer SerArgGlyGlyArgGlnGlyTyrHisHisGluHisSerValAspSerSe rGlyHisSerGlySerHisHisSerHisThrThrSerGlnGlyArgSerA spAlaSerArgGlyGlnSerGlySerArgSerAlaSerArgThrThrArg AsnGluGluGlnSerGlyAspGlySerArgHisSerGlySerArgHisHi sGluAlaSerThrHisAlaAspIleSerArgHisSerGlnAlaValGlnG lyGlnSerGluGlySerArgArgSerArgArgGlnGlySerSerValSer GlnAspSerAspSerGluGlyHisSerGluAspSerGluArgTrpSerGl ySerAlaSerArgAsnHisHisGlySerAlaGlnGluGlnLeuArgAspG lySerArgHisProArgSerHisGlnGluAspArgAlaGlyHisGlyHis SerAlaAspSerSerArgGlnSerGlyThrArgHisThrGlnThrSerSe rGlyGlyGlnAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGlyA spArgHisGlySerHisHisGlnGlnSerAlaAspSerSerArgHisSer GlyIleGlyHisGlyGlnAlaSerSerAlaValArgAspSerGlyHisAr gGlyTyrSerGlySerGlnAlaSerAspAsnGluGlyHisSerGluAspS erAspThrGlnSerValSerAlaHisGlyGlnAlaGlySerHisGlnGln SerHisGlnGluSerAlaArgGlyArgSerGlyGluThrSerGlyHisSe rGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerSerH isGlyTrpThrGlyProSerThrArgGlyArgGlnGlySerArgHisGlu GlnAlaGlnAspSerSerArgHisSerAlaSerGlnAspGly	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8419/12793	8347/12186	2783/4061			chr1	TogoVar
FLG_chr1_152297165_152330239	152306869	C C	CGTGCCCA others(965): Show CGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGG GATCCATGTCTGTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGC AGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGG AGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTG GGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTT TCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCAC TGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGAC CCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATG AGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTG ATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGC CCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGA CCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCC TTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCT TGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCC TTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACT GTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTT TCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCC AGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTC CCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCT CTGACTGCAGATGAAGCTTGTCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18948.hp1 NA18948.hp1	a0085 a0085	a0085c0081 a0085c0081	a0085c0081t0001 a0085c0081t0001	a0085c0081t0001g0170 a0085c0081t0001g0170	1	426	0.0024	972	c.801 others(981): Show c.8016_8017insAGACAAGCTTCATCTGCAGTCAGAGACAGTGGACAC CGAGGGTACAGTGGTAGTCAGGCCAGTGACAATGAGGGACATTCAGAAGA CTCAGACACACAGTCAGTGTCAGCCCACGGACAGGCTGGGTCCCATCAGC AGAGCCACCAAGAGTCCGCACGTGGCCGGTCAGGGGAAACGTCTGGACAT TCAGGATCTTTCCTCTACCAGGTGAGCACTCATGAACAGTCTGAGTCCTC CCATGGATGGACGGGGCCCAGCACTAGAGGAAGACAAGGATCCCGCCATG AGCAGGCACAAGACAGCTCCAGGCACTCAGCATCCCAAGACGGTCAGGAC ACCATTCGTGGACACCCGGGGTCAAGCAGAGGAGGAAGGCAGGGGTACCA CCACGAGCATTCGGTAGATAGCTCTGGACACTCAGGGTCCCATCACAGCC ACACCACATCCCAGGGAAGGTCTGATGCCTCCCGTGGGCAGTCAGGATCC AGAAGTGCAAGCAGAACAACACGTAATGAGGAACAATCAGGAGACGGCTC CAGGCACTCAGGGTCGCGTCACCATGAAGCTTCCACTCATGCCGACATCT CTAGACACTCACAGGCAGTCCAGGGACAATCAGAGGGGTCCAGGAGAAGC AGGCGCCAGGGATCCAGTGTGAGCCAGGACAGTGACAGTGAGGGACATTC AGAAGACTCTGAGAGGTGGTCTGGGTCTGCTTCCAGAAACCATCATGGAT CTGCTCAGGAGCAGCTAAGAGATGGCTCCAGACACCCCAGGTCCCATCAA GAAGACAGAGCTGGTCATGGGCACTCTGCAGACAGCTCCAGACAATCAGG CACTCGTCACACACAGACTTCCTCTGGTGGACAGGCTGCATCATCCCATG AACAGGCAAGATCAAGTGCAGGAGACAGACATGGATCCCACCACCAGCAG TCAGCAGACAGCTCCAGACACTCAGGCATTGGGCAC	p.His others(987): Show p.His2672_Gly2673insArgGlnAlaSerSerAlaValArgAspSer GlyHisArgGlyTyrSerGlySerGlnAlaSerAspAsnGluGlyHisSe rGluAspSerAspThrGlnSerValSerAlaHisGlyGlnAlaGlySerH isGlnGlnSerHisGlnGluSerAlaArgGlyArgSerGlyGluThrSer GlyHisSerGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGl uSerSerHisGlyTrpThrGlyProSerThrArgGlyArgGlnGlySerA rgHisGluGlnAlaGlnAspSerSerArgHisSerAlaSerGlnAspGly GlnAspThrIleArgGlyHisProGlySerSerArgGlyGlyArgGlnGl yTyrHisHisGluHisSerValAspSerSerGlyHisSerGlySerHisH isSerHisThrThrSerGlnGlyArgSerAspAlaSerArgGlyGlnSer GlySerArgSerAlaSerArgThrThrArgAsnGluGluGlnSerGlyAs pGlySerArgHisSerGlySerArgHisHisGluAlaSerThrHisAlaA spIleSerArgHisSerGlnAlaValGlnGlyGlnSerGluGlySerArg ArgSerArgArgGlnGlySerSerValSerGlnAspSerAspSerGluGl yHisSerGluAspSerGluArgTrpSerGlySerAlaSerArgAsnHisH isGlySerAlaGlnGluGlnLeuArgAspGlySerArgHisProArgSer HisGlnGluAspArgAlaGlyHisGlyHisSerAlaAspSerSerArgGl nSerGlyThrArgHisThrGlnThrSerSerGlyGlyGlnAlaAlaSerS erHisGluGlnAlaArgSerSerAlaGlyAspArgHisGlySerHisHis GlnGlnSerAlaAspSerSerArgHisSerGlyIleGlyHis	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8088/12793	8016/12186	2672/4061			chr1	TogoVar
FLG_chr1_152297165_152330239	152307223	C C	CTGATTGT others(965): Show CTGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAG GAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTG TTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCAT GGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCT GAGTGTCCAGATCTATCTACCGATTGCTCGTAGTGGGATCCCTGCCTTCC TCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGG ACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGT CTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTC ATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTG CTGACCGGCCACGTGTGGACTGTTGGTGGCTCTGCTGATGGGGCCCAGCC TGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTC ACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGA CTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCT GCTGACTGCTGGTGGTGGGATCCATGTCTCTCTCCTGCACTTGATCTTGC CTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGAT GAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCGGCTCTG TCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTG AGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAAT CTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGG GGCCTGCTTGTCCTGGGCCCTGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02451.hp2 HG03130.hp1 HG02451.hp2 HG03130.hp1	a0111 a0112 a0111 a0112	a0111c0137 a0112c0180 a0111c0137 a0112c0180	a0111c0137t0001 a0112c0180t0001 a0111c0137t0001 a0112c0180t0001	a0111c0137t0001g0131 a0112c0180t0001g0132 a0111c0137t0001g0131 a0112c0180t0001g0132	2	426	0.0047	972	c.766 others(981): Show c.7662_7663insTCAGGGCCCAGGACAAGCAGGCCCCGGGGATCCAGT GTTAGCCAGGACAGTGACAGTGAGGGACACTCAGAAGATTCTGAGAGGCG GTCTGGGTCTGCGTCCAGAAACCATCATGGATCTGCTCAGGAGCAGTCAA GAGATGGCTCCAGACACCCCAGGTCCCATCACGAAGACAGAGCCGGTCAT GGGCACTCTGCAGACAGCTCCAGACAATCAGGCACTCATCATGCAGAGAA TTCCTCTGGTGGACAGGCTGCATCATCCCATGAACAGGCAAGATCAAGTG CAGGAGAGAGACATGGATCCCACCACCAGCAGTCAGCAGACAGCTCCAGA CACTCAGGCACTGGGCACGGACAAGCTTCATCTGCAGTCAGAGACAGTGG ACACCGAGGGTCCAGTGGTAGTCAGGCCAGTGACAGTGAGGGACATTCAG AAGACTCAGACACACAGTCAGTGTCAGCCCACGGACAGGCTGGGCCCCAT CAGCAGAGCCACCAACAGTCCACACGTGGCCGGTCAGCAGGAAGGTCTGG ACGTTCAGGGTCTTTCCTCTACCAGGTGAGCACTCATGAACAGTCTGAGT CCGCCCATGGACGGACCGGGACCAGCACTGGAGGAAGACAAGGATCCCAC CACGAGCAGGCACGAGACAGCTCCAGGCACTCAACGTCCCAAGAGGGTCA GGACACCATTCATGGACACCCGGGGTCAAGCAGTGGAGGAAGGCAGGGAT CCCACTACGAGCAATCGGTAGATAGATCTGGACACTCAGGGTCTCATCAC AGCCACACCACATCCCAGGGAAGGTCTGATGCCTCCCATGGGCAGTCAGG ATCCAGAAGTGCAAGCAGACAAACTCGTAACGATGAACAATCAGGAGACG GCTCCAGGCACTCAGGGTCGCGTCACCATGAAGCTTCCTCTCGGGCCGAC AGCTCTAGACACTCGCAGGTGGGCCAGGGACAATCA	p.Ser others(987): Show p.Ser2554_Glu2555insSerGlyProArgThrSerArgProArgGly SerSerValSerGlnAspSerAspSerGluGlyHisSerGluAspSerGl uArgArgSerGlySerAlaSerArgAsnHisHisGlySerAlaGlnGluG lnSerArgAspGlySerArgHisProArgSerHisHisGluAspArgAla GlyHisGlyHisSerAlaAspSerSerArgGlnSerGlyThrHisHisAl aGluAsnSerSerGlyGlyGlnAlaAlaSerSerHisGluGlnAlaArgS erSerAlaGlyGluArgHisGlySerHisHisGlnGlnSerAlaAspSer SerArgHisSerGlyThrGlyHisGlyGlnAlaSerSerAlaValArgAs pSerGlyHisArgGlySerSerGlySerGlnAlaSerAspSerGluGlyH isSerGluAspSerAspThrGlnSerValSerAlaHisGlyGlnAlaGly ProHisGlnGlnSerHisGlnGlnSerThrArgGlyArgSerAlaGlyAr gSerGlyArgSerGlySerPheLeuTyrGlnValSerThrHisGluGlnS erGluSerAlaHisGlyArgThrGlyThrSerThrGlyGlyArgGlnGly SerHisHisGluGlnAlaArgAspSerSerArgHisSerThrSerGlnGl uGlyGlnAspThrIleHisGlyHisProGlySerSerSerGlyGlyArgG lnGlySerHisTyrGluGlnSerValAspArgSerGlyHisSerGlySer HisHisSerHisThrThrSerGlnGlyArgSerAspAlaSerHisGlyGl nSerGlySerArgSerAlaSerArgGlnThrArgAsnAspGluGlnSerG lyAspGlySerArgHisSerGlySerArgHisHisGluAlaSerSerArg AlaAspSerSerArgHisSerGlnValGlyGlnGlyGlnSer	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	7734/12793	7662/12186	2554/4061			chr1	TogoVar
GAL3ST2_chr2_241771822_241809287	241807931	T T	TCCCTCCC others(965): Show TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCAGGGACCTCTGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTC CTCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCCTCCCCCCTCAAC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCCTCCCTCCTCCCTCAACCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	314	0.0032	972	c.37 others(983): Show c.3765_*3766insCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCA GGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCACCCTCCCTCCTCCCTCAACCCAGGGACCTCCGCAGGCCACCCTC CCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCTCCCTCAACCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					3645		chr2	TogoVar
GALR1_chr18_77244848_77282900	77252905	C C	CCACCACC others(965): Show CCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCAC CACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCATCACCACCATCACCACCACCACCACCACCACCACCACCATCACC ATCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCAT CACCATCACCACCACCACCACCACCACCACCACCATCACCATCACCACCA CCATCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCATCACCACCATCACCACCACCATCACCACCACCATCAC CACCATCACCACCACCACCACCACCATCACCACCATCACCACCACCACCA CCACCATCACCACCATCACCACCACCACCACCACCACCACCACCATCACC ACCATCACCACCACCACCATCACCACCACCACCATCACCACCACCACCAC CACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCACC ACCACCACCACCACCATCACCACCATCACCACCATCACCACCACCACCAC CACCACCATCACCACCATCACCACCACCATCACCACCACCATCACCACCA TCACCACCATCACCACCACCACCATCACCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCAC CACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ACCACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0255 a0001c0001t0086g0255	1	366	0.0027	972	c.666 others(989): Show c.666+1708_666+1709insCCACCACCATCACCACCACCACCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCA CCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCAT CACCATCACCACCACCATCACCACCACCACCACCACCACCACCACCACCA CCATCACCATCACCACCACCACCACCACCACCACCACCATCACCATCACC ACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCATCAC CACCACCACCACCACCATCACCACCATCACCACCACCATCACCACCACCA TCACCACCATCACCACCACCACCACCACCATCACCACCATCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCAT CACCACCATCACCACCACCACCATCACCACCACCACCATCACCACCACCA CCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCATCAC CACCACCACCACCACCACCATCACCACCATCACCACCATCACCACCACCA CCACCACCACCATCACCACCATCACCACCACCATCACCACCACCATCACC ACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCATCAC CACCATCACCACCACCACCACCACCACCATCACCACCATCACCACCACCA CCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCACCACCATCACCACCATCACCACCACCACCACCA		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
IL17REL_chr22_49986811_50017765	50009894	T T	TGGCGGCA others(965): Show TGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGT GACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGG TGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGG CAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCT CAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGA ATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCA GTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCT GGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGC GGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACC CTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTG GAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGT CAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGT CTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCG GCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGA CCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTG TGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCA GTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCA GTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAAT CGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGT GACCCTCAGTCTGGTGTGGAATC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0151 a0001c0001t0026g0151	1	440	0.0023	972	c.103 others(989): Show c.103-1231_103-1230insGATTCCACACCAGACTGAGGGTCACTGA CTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCC ACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGG GTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCG CCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCA GACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACT GACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATT CCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGA GGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGC CGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACAC CAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCA CTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGA TTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACT GAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACT GCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCAC ACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGT CACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCC GATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGA CTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGA CTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCC		IL17REL	ENSG00000188263.11	transcript	ENST00000695950.1	protein_coding	1/14						chr22	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(965): Show GGAAAAAGGAAGGAAGGGAGGGAGGGAGGGGAGGGAAGAAGGGAGGAAGG GAAGGAGGGAAGGTGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGA GGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGG AGGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAGGGAG GGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACGA AGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAACAAAGG AAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAG GGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGA GGGAGGGAGGAAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGG AGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAAC AAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAA CGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAGGGAGGAAGGAACAAAGGA AGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGG GAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAG GGAGGGAGGAAGGAAGGAACGAAGGAAGGAAGAAAGAAAGGAAGGAGGGA GGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGG AAGAAAGAAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAG AAAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGA GGGAGGGAGGAAGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGG AGGGAAGAAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0032 a0032	a0032c0036 a0032c0036	a0032c0036t0003 a0032c0036t0003	a0032c0036t0003g0088 a0032c0036t0003g0088	1	88	0.0114	972	c.507 others(991): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGGAGGGAGGGAG GGGAGGGAAGAAGGGAGGAAGGGAAGGAGGGAAGGTGGAAGGAAGGAAGG AAAAGAAGGAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGA AGGAACAGAAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGG AAGGAAGAAAGAAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAG GGAGGGAGGAAGGAAGGAACGAAGGAAGGAAGAAAGAAAGGAAGGAGGGA GGGAGGGAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGG AGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAG GAAGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAACAAA GGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGG AGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAG GAGGGAGGGAGGAAGGAAGGAACGAAGGAAGAAAGAAAGGAGGGAGGGAG GGAGGGAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGA GGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGG AAGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAG GAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGA GGGAGGAAGGAAGGAACAAAGGAAGAAAGAAAGGAGGGAGGGAGGGAGGA AGGAAGGAACAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGGAGGGAGG AAGGAGGAAAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGGC AGAAGGAAGGAAGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGAG		LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64					INFO_REALIGN_3_PRIME	chr6	TogoVar

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Search Results (Total: 6036 hits)