Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TMC6_chr17_78102397_78133755	78115660	G G	GGCGAAGG others(560): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0080 a0002c0002t0002g0080	1	444	0.0023	567	c.227 others(586): Show c.2277+1608_2277+1609insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115702	G G	GGCGAAGG others(560): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0070 a0001c0005t0070	a0001c0005t0070g0185 a0001c0005t0070g0185	1	444	0.0023	567	c.227 others(586): Show c.2277+1566_2277+1567insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115702	G G	GGCGAAGG others(560): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0228 a0002c0014t0001g0228	1	444	0.0023	567	c.227 others(586): Show c.2277+1566_2277+1567insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTC CCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCT CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115702	G G	GGCGAAGG others(560): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0020 a0004c0006t0002g0020	1	444	0.0023	567	c.227 others(586): Show c.2277+1566_2277+1567insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTC CCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115702	G G	GGCGAAGG others(560): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0005 a0005c0004t0005	a0005c0004t0005g0218 a0005c0004t0005g0218	1	444	0.0023	567	c.227 others(586): Show c.2277+1566_2277+1567insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCA CTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115870	G G	GGCGAAGG others(560): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0231 a0004c0010t0001g0231	1	444	0.0023	567	c.227 others(586): Show c.2277+1398_2277+1399insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TSHZ2_chr20_52967358_53500330	53204263	G G	GATACTAT others(560): Show GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATAACATTATGATATGATACTATA TCATCATATAACATTATGATATGATACTATATCATCATATAACATTATGA TATGATACTATATCATCATATAACATTATGATATGATACTATATCATCAT ATAACATTATGATATGATACTATATCATCATATAACATTATGATATGATA CTATATCATCATATAACATTATGATATGATACTATATCATCATATAACAT TATGATATGATACTATATCATCATATAACATTATGATATGATACTATATC ATCATATAACATTATGAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0026 a0001c0001t0052g0026	1	174	0.0058	567	c.41- others(584): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATAACATTATGATATGATAC TATATCATCATATAACATTATGATATGATACTATATCATCATATAACATT ATGATATGATACTATATCATCATATAACATTATGATATGATACTATATCA TCATATAACATTATGATATGATACTATATCATCATATAACATTATGATAT GATACTATATCATCATATAACATTATGATATGATACTATATCATCATATA ACATTATGATATGATACTATATCATCATATAACATTATGATATGATACTA TATCATCATATAACATTATGATATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL8_chr22_50013575_50063298	50028631	T T	TACCCTCG others(560): Show TACCCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACT CGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAG ACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCAT CACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCATCACACCG TCCTGAAGACCCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGA AGACCCCACACACACTCGTAAAGACCCCCATCACACCGTCCTGAAGACCC CACACACCCTCGTAAAGACCCCCATCACACCATCCTGAAGACCCCACACA CCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACACACCCTCG TAAAGACCCCATCACACCATCCTGAAGACCCCACACACACTCGTAAAGAC CCCATCACACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCCAT CACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCCATCACACC ATCCTGAAGACCCCACAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0117 a0003c0003t0002g0117	1	224	0.0045	567	c.225 others(586): Show c.2251+1798_2251+1799insGTGTGGGGTCTTCAGGATGGTGTGAT GGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGT CTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGTCTTTAC GAGTGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTG TGTGGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGG GTCTTCAGGATGGTGTGATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTC AGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACG GTGTGATGGGGTCTTTACGAGGGTGTGTGGGGGTCTTCAGGACGGTGTGA TGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTC TTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGA GTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTG TGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGGGT	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(560): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAGTTTATAAATATATATTTATTTATTTAGTTTATAAATATATAT TTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATAT TTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATATTTAC ATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATATATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03927.hp2 HG03834.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0077 a0001c0001t0003 a0001c0001t0077	a0001c0001t0003g0128 a0001c0001t0077g0179 a0001c0001t0003g0128 a0001c0001t0077g0179	2	250	0.0080	567	c.82+ others(582): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATT TAGTTTATAAATATATATTTATTTATTTAGTTTATAAATATATATTTATT TAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATT TAGTTTATAAATACATATTTACATATTTAGTTTATAAATATTTACATATT TAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACA TATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATT TATATATTTAGTTTATAAATATATATTTATATATTTAATTTATAGATAAA TATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC5D_chr8_35230475_35801540	35509498	T T	TCTCCTCT others(560): Show TCTCCTCTCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCTTCCCCT CTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCCCC TCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCT CCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCC TCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCC CTCCCCTCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCT CCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCTCTCCTTCCCTCCCCTCC CCTCCCATTCCTTCCCCTCCTATTCCTTCCCCTCCCTTTCCCTCCCATTC CTTCCCCTCCCTTTCTCTCCCATTCCTTCCCCTCCCTTTCCCCTACCCCT CCCCTGTCTTCTCCTCCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	64	0.0156	567	c.104 others(586): Show c.104-39786_104-39785insCTCTCCCCTCCCTTCCCCTCTCCCCT CCCCTCCCTTCCCCTCTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTC TCTCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCT CCCCTCCCCTCTCCTCCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTC CCCTCTCCCCTCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCCCTCCCCTCC CCTCCCCTCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCTCT CCTTCCCTCCCCTCCCCTCCCATTCCTTCCCCTCCTATTCCTTCCCCTCC CTTTCCCTCCCATTCCTTCCCCTCCCTTTCTCTCCCATTCCTTCCCCTCC CTTTCCCCTACCCCTCCCCTGTCTTCTCCTCCCCTCCTCTC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35509498	T T	TCTCCTCT others(560): Show TCTCCTCTCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCTTCCCCT CTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCCCC TCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCT CCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCC TCCCTTCCCCTCTCCCCTCCCCCCTCCCCTCCCTTCCCCTCTCCCCTCCC CTCCCCTCCCTTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCC CCTCTCCCCTCCCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCTCTCCTTCCCTCCCCTCC CCTCCCATTCCTTCCCCTCCTATTCCTTCCCCTCCCTTTCCCTCCCATTC CTTCCCCTCCCTTTCTCTCCCATTCCTTCCCCTCCCTTTCCCCTACCCCT CCCCTGTCTTCTCCTCCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0040 a0001c0003t0014g0040	1	64	0.0156	567	c.104 others(586): Show c.104-39786_104-39785insCTCTCCCCTCCCTTCCCCTCTCCCCT CCCCTCCCTTCCCCTCTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTC TCTCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCT CCCCTCCCCTCTCCTCCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTC CCCTCTCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCCCTCCCCTCCCTT CCCCTCTCCCCTCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCTCCCCTCTCCCCTCCCCCCTCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCTCT CCTTCCCTCCCCTCCCCTCCCATTCCTTCCCCTCCTATTCCTTCCCCTCC CTTTCCCTCCCATTCCTTCCCCTCCCTTTCTCTCCCATTCCTTCCCCTCC CTTTCCCCTACCCCTCCCCTGTCTTCTCCTCCCCTCCTCTC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
VCX3B_chrX_8459830_8471510	8467384	G G	GGTGGTGT others(560): Show GGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGGGGAGGT AGGGAGGAGGAAGTGGTGTGTGAGGGAGGGAGGGAAGGAATAGGTGGTGT GTGGGGTGGAGGTGAGGAAGAGGTGGTGTGTGGGGCGAGGGAGGAGATGG TGGGTTGGTGTGGAGGGGAGGGAGGAGGTAGGGGGGAGGTGCGGGTGGGG GAGGCGGGCAGGATGTGGTGGTGTTGAGGGAGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGGAGGAGCGA AGAGATGTGTTTTGGAGGGCGCCGCTTCTTATAGTAGTGTCTTGTCGTTC GTCTGCCTCGTATTATAGAGTGTTGTCTTTCTTTCTTTCCTGTCTGAGTA TGAGTTTCGGTATGTCTTTCGTTCCTCTTATATATGTTTCGGTTTCTTTC CGCTTAGTTAAGGTGGTGTGTGGGGAGGGAAGGGAGGGAGAGAGAGGATT TGTGTGGGGAGGGATCTTATATATTTCTTTCGTTCTCCCTCTTCTTATAT ATTTCTGTGCTGTCTGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0058 a0058	a0058c0062 a0058c0062	a0058c0062t0003 a0058c0062t0003	a0058c0062t0003g0004 a0058c0062t0003g0004	1	271	0.0037	567	c.10 others(578): Show c.1001_*1002insGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGGGGAGGTAGGGAGGAGGAAGTGGTGTGTGAGGGAGGGAGGGA AGGAATAGGTGGTGTGTGGGGTGGAGGTGAGGAAGAGGTGGTGTGTGGGG CGAGGGAGGAGATGGTGGGTTGGTGTGGAGGGGAGGGAGGAGGTAGGGGG GAGGTGCGGGTGGGGGAGGCGGGCAGGATGTGGTGGTGTTGAGGGAGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGGAGGAGCGAAGAGATGTGTTTTGGAGGGCGCCGCTTCTTATAGT AGTGTCTTGTCGTTCGTCTGCCTCGTATTATAGAGTGTTGTCTTTCTTTC TTTCCTGTCTGAGTATGAGTTTCGGTATGTCTTTCGTTCCTCTTATATAT GTTTCGGTTTCTTTCCGCTTAGTTAAGGTGGTGTGTGGGGAGGGAAGGGA GGGAGAGAGAGGATTTGTGTGGGGAGGGATCTTATATATTTCTTTCGTTC TCCCTCTTCTTATATATTTCTGTGCTGTCTGGC	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		875		chrX	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(560): Show CCTTCCTTCCTCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCT TCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0067 a0001c0002t0005g0067	1	326	0.0031	567	c.483 others(582): Show c.483+381_483+382insTTCCTCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(560): Show GTATATATACATGTATACATATATACAAGTATATATATATACTTGTATAC ATATATACTATATATATACATATATACACATATATACGTATATATATGTA TATATACATATATACGTGTATATACGTATATACATGTATATAAGTATATA TACACATATATACATGTATATACGTATATATACACATATATACATGTATA TATACGTATATATACACATATATACATGTGTATATATACGTATATATACA CATATATACATGTATATATACGTATATATACACATATACACATATATACA TGTGTATATATATATACGTATATATACATATATACGTATATATATATACG TATATATACATATATACGTATATATATATACGTATATATACATATATACG TATATATATACGTATATATACATATATACATGTATATATACGTATATATA CATATATACATGTATATATATATATACGTATATATACATATATACATGTA TATATATATACGTATATACACATATATATACATGTATATATATGTGTATA TATACATGTATATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0023 a0001c0003t0001g0023	1	383	0.0026	567	c.-42 others(578): Show c.-4232_-4231insTATATATACATGTATACATATATACAAGTATATA TATATACTTGTATACATATATACTATATATATACATATATACACATATAT ACGTATATATATGTATATATACATATATACGTGTATATACGTATATACAT GTATATAAGTATATATACACATATATACATGTATATACGTATATATACAC ATATATACATGTATATATACGTATATATACACATATATACATGTGTATAT ATACGTATATATACACATATATACATGTATATATACGTATATATACACAT ATACACATATATACATGTGTATATATATATACGTATATATACATATATAC GTATATATATATACGTATATATACATATATACGTATATATATATACGTAT ATATACATATATACGTATATATATACGTATATATACATATATACATGTAT ATATACGTATATATACATATATACATGTATATATATATATACGTATATAT ACATATATACATGTATATATATATACGTATATACACATATATATACATGT ATATATATGTGTATATATACATGTATATATACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(560): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACGTATATATACGTATATATACACA TATATACATGTATATATATACGTATATATACACATATATACATGTATATA TACATGTATATATACGTACGTATATATACATGTATATATACGTACGTATA TATACATGTATATATACGTACGTATATATACACATATATACATGTGTATA TATGTGTATATATACACATATATACATGTATATATATATACGTATATATA CATATATACGTATATATATATACGTATATACACATATATACATGTATATA TATATACGTATATACACATATATATACATGTATATATATATACGTATATA CACATATATATACATGTATATATATATATGTGTATATATACATGTATATA TACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 NA18954.hp2 NA19000.hp1 others(1): Show HG02129.hp1 NA18954.hp2 NA19000.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0131 a0001c0001t0001g0134 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135	4	383	0.0104	567	c.-42 others(578): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACGTATATAT ACGTATATATACACATATATACATGTATATATATACGTATATATACACAT ATATACATGTATATATACATGTATATATACGTACGTATATATACATGTAT ATATACGTACGTATATATACATGTATATATACGTACGTATATATACACAT ATATACATGTGTATATATGTGTATATATACACATATATACATGTATATAT ATATACGTATATATACATATATACGTATATATATATACGTATATACACAT ATATACATGTATATATATATACGTATATACACATATATATACATGTATAT ATATATACGTATATACACATATATATACATGTATATATATATATGTGTAT ATATACATGTATATATACATATATATACATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(560): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACGTATATATACGTATATATACACA TATATACATGTATATATATACGTATATATACACATATATACATGTATATA TACATGTATATATACGTACGTATATATACATGTATATATACGTACGTATA TATACATGTATATATACGTACGTATATATACACATATATACATGTGTATA TATGTGTATATATACACATATATACATGTATATATATATACGTATATATA CATATATACGTATATATATATACGTATATATACATATATACATGTATATA TATATACGTATATACACATATATATACATGTATATATATATACGTATATA CACATATATATACATGTATATATATATATGTGTATATATACATGTATATA TACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA19055.hp2 NA19081.hp2 others(1): Show NA18999.hp2 NA19055.hp2 NA19081.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0108 a0001c0001t0001g0110 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0116	4	383	0.0104	567	c.-42 others(578): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACGTATATAT ACGTATATATACACATATATACATGTATATATATACGTATATATACACAT ATATACATGTATATATACATGTATATATACGTACGTATATATACATGTAT ATATACGTACGTATATATACATGTATATATACGTACGTATATATACACAT ATATACATGTGTATATATGTGTATATATACACATATATACATGTATATAT ATATACGTATATATACATATATACGTATATATATATACGTATATATACAT ATATACATGTATATATATATACGTATATACACATATATATACATGTATAT ATATATACGTATATACACATATATATACATGTATATATATATATGTGTAT ATATACATGTATATATACATATATATACATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(561): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0135 a0001c0003t0007g0135	1	249	0.0040	568	c.49- others(583): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(561): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0028 a0001c0004t0028	a0001c0004t0028g0170 a0001c0004t0028g0170	1	249	0.0040	568	c.49- others(583): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172204	A A	ATAAATGA others(561): Show ATAAATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGA GGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGAT GGATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGAT AAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGT GGGTGGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGA TGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAA TGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGG TGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGGGTGGGTGGGATGG ATAAATGGGTGGGTGGGATGGCTAAATGGGTGGGTGGGATGGATAAATGG GTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGG GATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGCTA AATGAGTGGGTGGGATGGC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0289 a0002c0014t0001g0289	1	357	0.0028	568	c.278 others(587): Show c.2787+1079_2787+1080insGCCATCCCACCCACTCATTTAGCCAT CCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCA CCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACCCATTTA TCCATCCCACCCACCCATTTAGCCATCCCACCCACCCATTTATCCATCCC ACCCACCCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTC ATTTAGCCATCCCACCCACTCATTTATCCATCCATCCCACCCATTTATCC ATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACC CACTCATTTAGCCATCCCACCCACTCATTTATCCATCCCACCCACTCATT TAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATC CCACCCACTCATTTATCCATCCATCCCACCCCCTCATTTATCCATCCCAC CCACTCATTTATCCATCCCACCCACTCATTTATCCATCCCACCTCATTTA TGCATCCCACCCACTCATTTATGCATCCCACCCACTCATTTA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172204	A A	ATAAATGA others(561): Show ATAAATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGA GGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGAT GGATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGAT AAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGT GGGTGGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGA TGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAA TGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGG TGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGGGTGGGTGGGATGG ATAAATGGGTGGGTGGGATGGCTAAATGGGTGGGTGGGATGGATAAATGG GTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGAGTGGGTGG GATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGCTA AATGAGTGGGTGGGATGGC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0001 a0002c0022t0001	a0002c0022t0001g0095 a0002c0022t0001g0095	1	357	0.0028	568	c.278 others(587): Show c.2787+1079_2787+1080insGCCATCCCACCCACTCATTTAGCCAT CCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCA CTCATTTATCCATCCCACCCACCCATTTATCCATCCCACCCACCCATTTA TCCATCCCACCCACCCATTTAGCCATCCCACCCACCCATTTATCCATCCC ACCCACCCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTC ATTTAGCCATCCCACCCACTCATTTATCCATCCATCCCACCCATTTATCC ATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACC CACTCATTTAGCCATCCCACCCACTCATTTATCCATCCCACCCACTCATT TAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATC CCACCCACTCATTTATCCATCCATCCCACCCCCTCATTTATCCATCCCAC CCACTCATTTATCCATCCCACCCACTCATTTATCCATCCCACCTCATTTA TGCATCCCACCCACTCATTTATGCATCCCACCCACTCATTTA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172204	A A	ATAAATGA others(561): Show ATAAATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGA GGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGAT GGATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGAT AAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGT GGGTGGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGA TGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAA TGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGG TGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGGGTGGGTGGGATGG ATAAATGGGTGGGTGGGATGGCTAAATGGGTGGGTGGGATGGCTAAATGG GTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGAGTGGGTGG GATGGATAAATGGGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTA AATGAGTGGGTGGGATGGC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0001 a0002c0024t0001	a0002c0024t0001g0152 a0002c0024t0001g0152	1	357	0.0028	568	c.278 others(587): Show c.2787+1079_2787+1080insGCCATCCCACCCACTCATTTAGCCAT CCCACCCACCCATTTATCCATCCCACCCACCCATTTATCCATCCCACCCA CTCATTTATCCATCCCACCCACCCATTTATCCATCCCACCCACCCATTTA GCCATCCCACCCACCCATTTAGCCATCCCACCCACCCATTTATCCATCCC ACCCACCCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTC ATTTAGCCATCCCACCCACTCATTTATCCATCCATCCCACCCATTTATCC ATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACC CACTCATTTAGCCATCCCACCCACTCATTTATCCATCCCACCCACTCATT TAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATC CCACCCACTCATTTATCCATCCATCCCACCCCCTCATTTATCCATCCCAC CCACTCATTTATCCATCCCACCCACTCATTTATCCATCCCACCTCATTTA TGCATCCCACCCACTCATTTATGCATCCCACCCACTCATTTA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172211	A A	AGTGGGTG others(561): Show AGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGAGGTGGGA TGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAA TGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAG TGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGG ATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAA ATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGGGTGG GATGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATG GATAAATGGGTGGGTGGGATGGCTAAATGGGTGGGTGGGATGGATAAATG AGTGGGTGGGATGGCTAAATGGGTGGGTGGGATGGATAAATGGGTGGGTG GGATGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGAT AAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGCTAAATGAGT GGGTGGGATGGCTAAATGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0306 a0002c0003t0001g0306	1	357	0.0028	568	c.278 others(587): Show c.2787+1072_2787+1073insCCATTTAGCCATCCCACCCACTCATT TAGCCATCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATC CCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCAC CCATTTATCCATCCCACCCACCCATTTAGCCATCCCACCCACTCATTTAT CCATCCCACCCACCCATTTAGCCATCCCACCCACCCATTTATCCATCCCA CCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCCATCCCACCCA TTTATCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCA TCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCCCACCC ACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTT ATCCATCCCACCCACTCATTTATCCATCCATCCCACCCCCTCATTTATCC ATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCCACC TCATTTATGCATCCCACCCACTCATTTATGCATCCCACCCAC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172211	A A	AGTGGGTG others(561): Show AGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGAGGTGGGA TGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAA TGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAG TGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGG ATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAA ATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGGGTGG GATGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATG GATAAATGGGTGGGTGGGATGGCTAAATGGGTGGGTGGGATGGATAAATG GGTGGGTGGGATGGCTAAATGGGTGGGTGGGATGGATAAATGGGTGGGTG GGATGGATAAATGGGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGAT AAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGCTAAATGAGT GGGTGGGATGGCTAAATGG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01978.hp1 HG01934.hp1 HG01978.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0141 a0002c0003t0001g0224 a0002c0003t0001g0141 a0002c0003t0001g0224	2	357	0.0056	568	c.278 others(587): Show c.2787+1072_2787+1073insCCATTTAGCCATCCCACCCACTCATT TAGCCATCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATC CCACCCACCCATTTATCCATCCCACCCACCCATTTATCCATCCCACCCAC CCATTTATCCATCCCACCCACCCATTTAGCCATCCCACCCACCCATTTAT CCATCCCACCCACCCATTTAGCCATCCCACCCACCCATTTATCCATCCCA CCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCCATCCCACCCA TTTATCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCA TCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCCCACCC ACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTT ATCCATCCCACCCACTCATTTATCCATCCATCCCACCCCCTCATTTATCC ATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCCACC TCATTTATGCATCCCACCCACTCATTTATGCATCCCACCCAC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(561): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATACTATATATATTCTATATACAGAATATATATAGTATATATA TTCTATATACAGAATATATATAGTATATATATTCTGTATACAGAATATAT AGTATATATATTCTGTATACAGAATATATAGTATATATATTCTATATACA GAATATATATAGTATATATATTCTGTATACAGAATATATATACTATATAT ATTCTATATACAGAATATATATACTATATATATTCTATATATAGAATATA TATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTAT ATATAGAATATATATAGTATATATATTCTGTATATAGAATATATATAGTA TATATATTCTGTATATAGAATATATACTATATATATTCTGTATATAGAAT ATATATACTATATTAATTC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	236	0.0042	568	c.409 others(587): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATAGTATATATTCTATATACAGAATATATATACTATA TATATTCTATATACAGAATATATATACTATATATATTCTATATATAGAAT ATATATACTATATATATTCTGTATATAGAATATATATACTATATATATTC TATATATAGAATATATATAGTATATATATTCTGTATATAGAATATATATA GTATATATATTCTGTATACAGAATATATATACTATATATATTCTGTATAT AGAATATATATACTATATATTCTGTATACAGAATATATATACTATATATT CTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATATAT ACTATATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATA TAGAATATATATACTATATATATTCTGTATATAGAATATATATACTATAT ATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGAATA TATATACTATATATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AHRR_chr5_316714_443285	344528	G G	GGCTGTGT others(561): Show GGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGC TGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGC TGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGG GTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGG GTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAG GCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAG GCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGC GGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGAGGCTGTGGGGGGCTGT GTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTG TGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGT GTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGT GTGTGTGAGGCTGTGGGGA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	268	0.0037	568	c.62+ others(581): Show c.62+647_62+648insTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTG TGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGG CTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGAGGCT GTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGG GGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTG TGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGT GTGTGGGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTG TGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTG TGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGT GTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGG GGAGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGA GCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAG others(561): Show ATATATAGTTTATATATATATAGTTTATATATATATACTATATATATAGT TTATATATACTATATATATAGTTTATATATATATACTATATATAGTTTAT ATATATATACTATATATAGTATATATATACTATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTATATATATATATAAACTATAT ATATAGTTTATATATATATAAACTATATATATAGTTTATATATATATACT ATATATATAGTATATATATATATAAACTATATATATAGTTTATATATATA TAAACTATATATATAGTTTATATATATATATACTATATATATAGTTTATA TATATATATATACTATATATATAGTTTATATATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATATATACTATAT ATATAGTTTATATATATATATACTATATATATAGTTTATATATATATATA CTATATATATAGTTTATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0242 a0001c0001t0005g0242	1	304	0.0033	568	c.331 others(587): Show c.3314-1170_3314-1169insATATAAACTATATATATAGTATATAT ATATATAAACTATATATATAGTATATATATATATAAACTATATATATAGT ATATATATATATAAACTATATATATAGTATATATATATAAACTATATATA TAGTATATATATATATAAACTATATATATAGTATATATATATATATAAAC TATATATATAGTATATATATATATAAACTATATATATAGTTTATATATAT ATAAACTATATATATAGTTTATATATATATATACTATATATATAGTATAT ATATATAAACTATATATATAGTTTATATATATATAAACTATATATATAGT TTATATATATATATACTATATATATAGTATATATATATAAACTATATATA TAGTATATATATAAACTATATATATAGTATATATATATAAACTATATATA TAGTATATATATAGTATATATATACTATATATAGTATATATATATAAACT ATATATAGTATATATATATAAACTATATATATAGTATATATAAACTATAT ATATAGTATATATATATAAACTATATATATATAAACTATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(561): Show ATATATATATAGTTTATATATATATAGTTTATATATATATACTATATATA TAGTTTATATATACTATATATATAGTTTATATATATATACTATATATAGT TTATATATATATACTATATATAGTATATATATACTATATATATACTATAT ATATAGTTTATATATATACTATATATATAGTTTATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTTTATATATATATACTATAT ATATAGTATATATATATATAAACTATATATATAGTTTATATATATATAAA CTATATATATAGTTTATATATATATATACTATATATATAGTATATATATA TATAAACTATATATATAGTTTATATATATATAAACTATATATATAGTTTA TATATATATACTATATATATAGTTTATATATATATATATACTATATATAT AGTTTATATATATATATACTATATATATAGTTTATATATATATACTATAT ATATAGTTTATATATATATATACTATATATATAGTTTATATATATATATA CTATATATATAGTTTATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0298 a0001c0001t0026g0298	1	304	0.0033	568	c.331 others(587): Show c.3314-1170_3314-1169insATATAAACTATATATATAGTATATAT ATATATAAACTATATATATAGTATATATATATATAAACTATATATATAGT ATATATATATAAACTATATATATAGTATATATATATATAAACTATATATA TAGTATATATATATATATAAACTATATATATAGTATATATATATAAACTA TATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATAT ATACTATATATATAGTATATATATATATAAACTATATATATAGTTTATAT ATATATAAACTATATATATAGTTTATATATATATATACTATATATATAGT ATATATATATAAACTATATATATAGTATATATATATAAACTATATATATA GTATATATATAAACTATATATATAGTATATATATAAACTATATATATAGT ATATATATAGTATATATATACTATATATAGTATATATATATAAACTATAT ATAGTATATATATATAAACTATATATATAGTATATATAAACTATATATAT AGTATATATATATAAACTATATATATATAAACTATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
AZU1_chr19_822837_837018	835408	G G	GCCACCCC others(561): Show GCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCT GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCTGTCCAGGCCC CGACGCGTGCAGCCCCCACCCCGCAGCCCTGTCCAGGCCCCGACGCGTGC AGCCCCCACCCCGCAGCCCTGTCCAGGCCCCGACGCGTGCAGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCTGTCCAGGCCC CGACGCGTGCGTGCAGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	391	0.0026	568	c.35 others(579): Show c.3531_*3532insCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTG CAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCC CCACCCCGCAGCCCTGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCTGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCTGTCCA GGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCTGTCCAGGCCCCGACG CGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCTGTCCAGGCCCCGACGCGTGCGTGCAGCCC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3391		chr19	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(561): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCTGTCCAGGCCCCGACGC GTGCAGCCCCCACCCCGCAGCCCTGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCTGT CCAGGCCCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0046 a0001c0004t0001g0046	1	391	0.0026	568	c.36 others(579): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCTG TCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCTGTCCAGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCTGTCCAGGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185865	G G	GGTCAGCG others(561): Show GGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGA GTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGCGTAGGGGCCAGAGGCAGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAG GTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGG GTGAGTAGACGGTCGGCGT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0199 a0004c0006t0001g0199	1	338	0.0030	568	c.300 others(585): Show c.300-9106_300-9105insTCAGCGTGCGTAGGGGCCGGAGGCGGGG TACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGG AGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGG CCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCAG GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAG GCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185865	G G	GGTCAGCG others(561): Show GGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGA GTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAG GTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGG GTGAGTAGACGGTCGGCGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(67): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00733.hp1 HG00735.hp1 HG01071.hp1 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01516.hp2 HG01928.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp2 HG02083.hp2 HG02145.hp2 HG02273.hp2 HG02300.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp2 HG02735.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18969.hp1 NA18998.hp1 NA19009.hp1 NA19085.hp2 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0005 a0006 a0009 a0013 a0014 a0023 a0025 a0032 a0033 a0042 a0045 a0049 a0052 a0069 a0070	a0001c0001 a0001c0032 a0001c0041 others(26): Show a0001c0001 a0001c0032 a0001c0041 a0001c0086 a0001c0088 a0001c0092 a0002c0002 a0002c0008 a0002c0013 a0002c0035 a0002c0078 a0003c0107 a0003c0132 a0005c0003 a0005c0050 a0006c0004 a0009c0116 a0013c0030 a0014c0018 a0023c0029 a0025c0047 a0032c0071 a0033c0106 a0042c0083 a0045c0089 a0049c0095 a0052c0051 a0069c0121 a0070c0122	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0032t0021 a0001c0041t0001 a0001c0086t0001 a0001c0088t0001 a0001c0092t0009 a0002c0002t0001 a0002c0008t0001 a0002c0008t0005 a0002c0013t0001 a0002c0035t0001 a0002c0078t0005 a0003c0107t0004 a0003c0132t0030 a0005c0003t0001 a0005c0003t0005 a0005c0003t0009 a0005c0050t0001 a0006c0004t0004 a0009c0116t0006 a0013c0030t0006 a0014c0018t0004 a0014c0018t0011 a0023c0029t0001 a0025c0047t0005 a0032c0071t0001 a0033c0106t0001 a0042c0083t0003 a0045c0089t0005 a0049c0095t0002 a0052c0051t0001 a0069c0121t0005 a0070c0122t0003	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0051 others(66): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0182 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0314 a0001c0001t0002g0143 a0001c0001t0002g0152 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0196 a0001c0001t0002g0238 a0001c0001t0009g0213 a0001c0001t0010g0135 a0001c0032t0021g0265 a0001c0032t0021g0266 a0001c0041t0001g0220 a0001c0086t0001g0023 a0001c0088t0001g0016 a0001c0092t0009g0306 a0002c0002t0001g0114 a0002c0002t0001g0141 a0002c0002t0001g0239 a0002c0008t0001g0185 a0002c0008t0005g0252 a0002c0013t0001g0170 a0002c0013t0001g0175 a0002c0035t0001g0172 a0002c0035t0001g0288 a0002c0078t0005g0250 a0003c0107t0004g0184 a0003c0132t0030g0278 a0005c0003t0001g0021 a0005c0003t0001g0154 a0005c0003t0001g0178 a0005c0003t0001g0179 a0005c0003t0001g0186 a0005c0003t0005g0255 a0005c0003t0009g0180 a0005c0050t0001g0125 a0006c0004t0004g0003 a0006c0004t0004g0024 a0006c0004t0004g0285 a0006c0004t0004g0286 a0009c0116t0006g0188 a0013c0030t0006g0010 a0014c0018t0004g0034 a0014c0018t0004g0311 a0014c0018t0011g0151 a0023c0029t0001g0183 a0023c0029t0001g0194 a0025c0047t0005g0247 a0032c0071t0001g0310 a0033c0106t0001g0160 a0042c0083t0003g0038 a0045c0089t0005g0262 a0049c0095t0002g0197 a0052c0051t0001g0312 a0069c0121t0005g0264 a0070c0122t0003g0326	70	338	0.2071	568	c.300 others(585): Show c.300-9106_300-9105insTCAGCGTGCGTAGGGGCCGGAGGCGGGG TACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGG AGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGG CCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAG GCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185865	G G	GGTCAGCG others(561): Show GGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGA GTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAG GTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGG GTGAGTAGACGGTCGGCGT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19087.hp1 NA19010.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0329 a0001c0001t0001g0150 a0001c0001t0001g0329	2	338	0.0059	568	c.300 others(585): Show c.300-9106_300-9105insTCAGCGTGCGTAGGGGCCGGAGGCGGGG TACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGG AGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGG CCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAG GCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185865	G G	GGTCAGCG others(561): Show GGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGTCGTCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGA GTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAG GTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGG GTGAGTAGACGGTCGGCGT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	338	0.0030	568	c.300 others(585): Show c.300-9106_300-9105insTCAGCGTGCGTAGGGGCCGGAGGCGGGG TACGTGGGGGGCGGGTGAGTAGACGGTCGTCGTGCATAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGG AGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGG CCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAG GCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185865	G G	GGTCGGCG others(561): Show GGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGA GTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAG GTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGG GTGAGTAGACGGTCGGCGT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0022 a0022	a0022c0117 a0022c0117	a0022c0117t0006 a0022c0117t0006	a0022c0117t0006g0037 a0022c0117t0006g0037	1	338	0.0030	568	c.300 others(585): Show c.300-9106_300-9105insTCGGCGTGCGTAGGGGCCGGAGGCGGGG TACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGG AGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGG CCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAG GCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMKK2_chr12_121232692_121301709	121255315	T T	TATATATA others(561): Show TATATATATATATAATTATATATATAATTATATATATATAAAATTATATA TAAAATTATATATATAATTATATATATATTATATATATAATTTTATATAT ATATTATATATATAATTTTATATATATATTATATATATAATTTTATATAT ATATAATATATATAATTTTATATATATATAATTATATATATATAATTTTA TATATATAATTATATATATAATTATATATATAATTATATATATATAATTA TATATATAATTATATATATAATTTTATATATAATTTTATATATAATTTTA TATATATAATTATATATATAATTTTATATATATATAATTATATATATAAT ATTATATATAATTATATATATAATTATATATATATTTTTATATATATAAT TATATATATAATTATATATATAATTTTATATATATATATAATTATATATA TAATTATATATATATAATTATATATATAATTTTATATATATATAATTATA TATATAATTATATATATATAATTATATATATAATTATATATATATAATTA TATATAATTATATATATAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03834.hp2 HG03669.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0154 a0002c0002t0003g0155 a0002c0002t0003g0154 a0002c0002t0003g0155	2	330	0.0061	568	c.907 others(583): Show c.907+234_907+235insTTATATATATAATTATATATAATTATATAT ATATAATTATATATATAATTATATATATATAATTATATATATAATTATAT ATATATAAAATTATATATATAATTATATATATATAATTATATATATAATT ATATATATATATAAAATTATATATATAATTATATATATAATTATATATAT AAAAATATATATATAATTATATATATAATTATATATAATATTATATATAT AATTATATATATATAAAATTATATATATAATTATATATATAAAATTATAT ATAAAATTATATATAAAATTATATATATAATTATATATATAATTATATAT ATATAATTATATATATAATTATATATATAATTATATATATAAAATTATAT ATATATAATTATATATATATAAAATTATATATATTATATATATATAAAAT TATATATATAATATATATATAAAATTATATATATAATATATATATAAAAT TATATATATAATATATATATAATTATATATATAATTTTATATATAATTTT ATATATATATAATTATATATATAATTATATATATATAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(561): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGGTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCA GGTGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGTGGGAGGGGGTG GGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGG GGGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGCGGGTGGGGTGGGGTGGG AGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGGGGAGGGGTGGGGTGGG AGGGGTGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0099 a0001c0001t0025g0099	1	284	0.0035	568	c.712 others(585): Show c.712-2416_712-2415insCCCACCCCACCCCACCCCTCCCACCCCA CCCCTCCCCCACCCCACCCCCTCCCACCCCACCCCACCCCTCCCACCCCA CCCCACCCGCACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCCCAC CCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTC CCACCCCACCCCTCCCTCCCCCACCCCTCCTCCACCCCACCTGCACCCTT CCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCA CCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACCCA TACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACCCTT CCCCCACCCCACCCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCCAC CCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAACCC TCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCACC CAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(561): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCA GGTGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGTGGGAGGGGGTG GGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGG GGGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGCGGGTGGGGTGGGGTGGG AGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGGGGAGGGGTGGGGTGGG AGGGGTGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0085 a0001c0003t0001g0085	1	284	0.0035	568	c.712 others(585): Show c.712-2416_712-2415insCCCACCCCACCCCACCCCTCCCACCCCA CCCCTCCCCCACCCCACCCCCTCCCACCCCACCCCACCCCTCCCACCCCA CCCCACCCGCACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCCCAC CCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTC CCACCCCACCCCTCCCTCCCCCACCCCTCCTCCACCCCACCTGCACCCTT CCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCA CCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACCCA TACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACCCTT CCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCCAC CCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAACCC TCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCACC CAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(561): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCC CCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCC TTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	256	0.0039	568	c.-45 others(589): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCT CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCT CTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(561): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCAC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCCCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCC TTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	256	0.0039	568	c.-45 others(589): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCCTCCCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCCCTCCCCT CTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCT CTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CECR2_chr22_17364460_17563151	17432004	T T	TGACATTT others(561): Show TGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGG ATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACT TTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATC ACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCC TGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCAC TCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTA TGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCA CTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAA TCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTT CCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCC ACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTG TATGGATTTGCCCACTCTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02895.hp1 HG01255.hp2 HG02895.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0057 a0004c0004t0006 a0001c0001t0057 a0004c0004t0006	a0001c0001t0057g0245 a0004c0004t0006g0197 a0001c0001t0057g0245 a0004c0004t0006g0197	2	324	0.0062	568	c.127 others(587): Show c.127-45531_127-45530insTGCCCACTCTGGACATTTCCTGTAAG TGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGA CATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATT TGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGT GCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACAC AGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTA AGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTG GACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGA TTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTT GTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCAC ACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTG TAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(561): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACATACTATGTATATCATGTAGTATGTATACTACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	448	0.0022	568	c.51+ others(583): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTAGTA TACATACTACATGATATACATAGTATGTAGTATACATACTACATGATATA CATAGTATGTAGTATACATACTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
DCLK2_chr4_150073445_150262438	150251005	A A	AACACCCC others(561): Show AACACCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCC CCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACA CCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCAACACCCCC ACACCCCCACACCCCACACACCCCCCACACCACACATCCCCCACACCCCC CACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCAACAC CCCCACACCCCCCACACCACACATCCCCCACACCCCCCAAATCCCCACAC ACCCCCCACACCACACATCCCTCACACCCCCCAACACCCCCACACCCCCA CACCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCC ACACACCCCCCACACCACACATCCCTCACACCCCCCACACCACACATCCC CCACACCCCCCAAATCCCCACACACCCCCCACACCACACATCCCTCACAC CCCCCAACACCCCCACACCCCCACACCCCACACACCCCCCACACCACACA TCCCCCACACCCCCCACAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0028 a0001c0001t0016g0028	1	116	0.0086	568	c.207 others(587): Show c.2073+1321_2073+1322insACACCCCCACACCCCCACACACCCCC CACACCACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACC ACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACAT CCCTCACACCCCCCAACACCCCCACACCCCCACACCCCACACACCCCCCA CACCACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCAC ACATCCCCCACACCCCCCAACACCCCCACACCCCCCACACCACACATCCC CCACACCCCCCAAATCCCCACACACCCCCCACACCACACATCCCTCACAC CCCCCAACACCCCCACACCCCCACACCCCACACACCCCCCACACCACACA TCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCTC ACACCCCCCACACCACACATCCCCCACACCCCCCAAATCCCCACACACCC CCCACACCACACATCCCTCACACCCCCCAACACCCCCACACCCCCACACC CCACACACCCCCCACACCACACATCCCCCACACCCCCCACAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CCACCCGC others(561): Show CCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCACCCCCA CCCGCACCCCCCACCCCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCAC CCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACC CTCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCC CCACCCCCACCCCCCACCCGCACCCCCACCCCCACCCCACCCGCACCCGC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCC GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCC ACCCCCACCCTCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCAC CCCCACCCCCACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCC TCACCCCCACCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	320	0.0031	568	c.39 others(579): Show c.3984_*3985insCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGG TGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGG TGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGG GTGGGGGTGGGGGTGCGGGTGGGGGGTGGGGGTGGGGGGTGCGGGTGCGG GTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGT GGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGGGTGGGGGGTGCGGGTGGGGGTGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CCACCCGC others(561): Show CCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCAC CCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCC CACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCA CCCTCACCCCCACCCGCACCCCACCCCCACCCCCACCCGCACCCGCACCC CCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCC GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCC ACCCCCACCCTCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCAC CCTCACCCCCACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCC TCACCCCCACCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	320	0.0031	568	c.39 others(579): Show c.3984_*3985insCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGG TGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGG TGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGGGGTGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTGG GGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGG GTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(561): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCC GCACCCGCACCCCCACCCCACCCCACCCCCACCCCCACCCTCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCC CCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCAC CCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCC CCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTC ACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCAC CCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCC TCACCCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0197 a0002c0002t0001g0197	1	320	0.0031	568	c.39 others(579): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTG GGGGTGGGGGTGGGGTGGGGTGGGGGTGCGGGTGCGGGTGCGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(561): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCCACCCCCACCCCCCACCCGCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCGCACCCCCACCCCCCCACCCCCACCCTCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCC CCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCAC CCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCC CCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTC ACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCAC CCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCC TCACCCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	320	0.0031	568	c.39 others(579): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTG GGGGTGGGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGCGGGTGGGGGGTGGGGGTGGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(561): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAGGGAGGGAGGGAGGGGAGGAGGGAAAGGAGG GAAGGGAGGGAGGGAGGGAAGGGATGGAGGGAGGGGAGGAGGGAAGGGAG GGGAGGAGGGAAGGAGGGGAGGGAGGGAGGGGAGGAGGGAAGGAGGGGAA GGAGGGAAGGGAGGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAGGG AAGGGAGGGAAGGGAAGGAGGGAGGGGAGGAGGGAAGGGAGGGAAGGAGG GAAGGAAGAGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAA AGGAGGAAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGACGGAGGGAG GGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGA GGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGA GGGAGGGAGGGAAGGAGGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0027 a0027	a0027c0030 a0027c0030	a0027c0030t0009 a0027c0030t0009	a0027c0030t0009g0290 a0027c0030t0009g0290	1	290	0.0035	568	c.757 others(585): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCG TCCCTCCCTTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCCTCCT TCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCC CTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTC CCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCCCTCC TTCCCTCCTCCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCCTCCCTTCC CTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCCCTCCTTTC CCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTCCCCTCCCTCCCTCCCTTC CCTCCTTCCCTCCCTCCATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTC CCTCCCTCCCCTCCTTCCCTCCCTCCCTCCCTCCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGTC others(561): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGCCGGGGGGTCAGCCAGCCGCCCCGT CTGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCC GGCAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCACCCGCCCCGTCC GGGAGGCAAGGGGCGCCTCTGCCCGGCCACCCCTACTGGGAATTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTACGGGAGGGAGGTGAGGGGGGTCA GCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCATCCGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	322	0.0031	568	c.976 others(583): Show c.976-879_976-878insCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCTC ACCTCCCTCCCGTACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAATTC CCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGCGG GTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTGCCGGACGGGGCGG CTGGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCT GGCTGACCCCCCGGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACAGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCTGGCGGGGGCTGACCCCC	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11			chr1	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAA others(561): Show GTATATAAATATATATGTATGTATATTATATACATATAAATATATATGTA TATAATATATATGTATGTATATTATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATTTACATACATA TAAATATATATTTACATACATATAAATATATATATTTATATACATATAAT ACATATACATATATACATATAAATATATATTTATATACATATAAATATAT ATATTTATATATATAAATATATATATTTATATATATATAAATATATATAT ATTTATATATATATAAATATATATATTTATATATATATAAATATATATAT TTATATATATATAAATATATATATATTTATATATACATATAAATATATAT TTATATACATATAAATATATAATTATATACATATAAATATATATAATTAT ATACATATAAATATATATTTATATACATATAAATATATATATTTATATAC ATATAAATTTATATACATATAAATATATATATTTATATTTATATACATAT AAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0230 a0005c0007t0001g0230	1	292	0.0034	568	c.49 others(579): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATA TAAATATATATATTTATATGTATATAAATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAATTATATATATT TATATGTATATAATTATATATTTATATGTATATAAATATATATTTATATG TATATATAAATATATATATATTTATATATATATAAATATATATATTTATA TATATATAAATATATATATTTATATATATATAAATATATATATATTTATA TATATATAAATATATATATTTATATATATAAATATATATATTTATATGTA TATAAATATATATTTATATGTATATATGTATATGTATTATATGTATATAA ATATATATATTTATATGTATGTAAATATATATTTATATGTATGTAAATAT ATATTTATATGTATATAAATATATATATTTATATGTATATAAATATATAT TTATATGTATATAATATACATACATATATATTATATACATATATATTTAT ATGTATATAATATACATACATATATATTTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FOXP1_chr3_70949708_71588728	71435561	A A	AGGAAGGG others(561): Show AGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGAC GGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGG AGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGAC GGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGG AAGAAGGGACGGAGGGAGGGAGGGAGGAAAAAAGGAGGGAGGGAGGGAGG GACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGA GGGAGGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGGAGG AAAAAAGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAG GGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGA AGGGACGGAGGGAGGGAGGGAGGAAAAAAGGAGGGAGGGAGGGAGGGACG GAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03471.hp2 HG02723.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0064 a0001c0001t0042 a0001c0001t0064	a0001c0001t0042g0059 a0001c0001t0064g0085 a0001c0001t0042g0059 a0001c0001t0064g0085	2	96	0.0208	568	c.-16 others(589): Show c.-168+57864_-168+57865insCCCTCCCTCCGTCCCTCCCTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCTTTTTTCCTCCCTCCCTCCCTCCGTCCCTTCTTC CCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCG TCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCTTTTTTCCTCC CTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCC CTCCCTCCCTCCTTTTTTCCTCCCTCCCTCCCTCCGTCCCTTCTTCCCTC CCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCC TTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTC CCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCC TCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar

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Search Results (Total: 10000 hits)