Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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Results per page.

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
MAP3K15_chrX_19355059_19520508	19477975	G G	GAGAGGGA others(951): Show GAGAGGGAGGGAGGGGTGGGGAGAGAGAGAGAGAGGGAGGGAGGGGTGGG GAGAGAGAGAGAGAGGGAGGGAGGGATGGGGGAGAGAGAGGGGAGAGGGG AGGGAGAGGGGGGAGAGGGAGGAGAGAGGGGGGAGAGGGGGAGAGAGGGG GGAGATGGGGGAGAGGGGGGAGATGGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAGGGG GAGAGGGGGGAGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGAGAGGGGG AAAGGGGGGAGAGAGGTGGGGGAGAGGGGGGAGAGAGGTGGGGGAGAGGG GGGAGAGAGGTGGGGGAGAGGGGGGAGAGAGGTGGGGGAGAGGGGGGAGA GAGGGGGGAGGGGGAGAGAGGGGGGAGGGGGGAGGGGGGAGAGAGGGGGG AGGGGGGAGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAG GGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGG GGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGG GAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGG GGGGAGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGG AGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGGGAG GGGGAGGGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGG AGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAG GGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGG GGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGA GGGGGGAGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0007 a0007	a0007c0022 a0007c0022	a0007c0022t0003 a0007c0022t0003	a0007c0022t0003g0079 a0007c0022t0003g0079	1	163	0.0061	958	c.525 others(975): Show c.525+8506_525+8507insTCTCCCCCCTCCCCCTCTCCCCCCTCCC CCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCC TCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTC CCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCC CTCTCCCCCCTCCCCCCTCCCCCCCCTCCCCCTCCCCCCCCTCCCCCCTC CCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCC CCCTCTCCCCCCTCCCCCCTCTCCCCTCCCCCCTCCCCCCTCCCCCCTCC CCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCC CCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCC TCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCC CCCTCTCCCCCCTCCCCCCTCTCTCCCCCCTCCCCCCTCTCTCCCCCCTC CCCCCTCCCCCCTCTCTCCCCCTCCCCCCTCTCTCCCCCCTCTCCCCCAC CTCTCTCCCCCCTCTCCCCCACCTCTCTCCCCCCTCTCCCCCACCTCTCT CCCCCCTCTCCCCCACCTCTCTCCCCCCTTTCCCCCTCTCCCCCTCTCCC CCCTCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCTCTCCCC CTCTCCCCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCCCCCTCTCCCCCT CTCCCCCATCTCCCCCCTCTCCCCCATCTCCCCCCTCTCTCCCCCTCTCC CCCCTCTCTCCTCCCTCTCCCCCCTCTCCCTCCCCTCTCCCCTCTCTCTC CCCCATCCCTCCCTCCCTCTCTCTCTCTCTCCCCACCCCTCCCTCCCTCT CTCTCTCTCTCCCCACCCCTCCCTCCCTCT	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(951): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAG TGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCT GGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCG CCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACA TGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGCTCCTG GCGAGTGTGCCCCCCGGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCC CCCCGCGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCT CACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGG CGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCC CCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCC TCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATG GGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCG AGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCC GCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCTCCTCAC ATGGGCTCCTGGCGAGTGTGCCCCCCCCCGCGCCTCCTCACATGGGCTCC TGGCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGC CCCCCGCCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0059 a0006c0006t0001g0059	1	292	0.0034	958	c.218 others(973): Show c.2189-97_2189-96insAGGCGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGAGGCGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGC GGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGTGGGGGGCAC ACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGGGGGCACACTCGCCAGG AGCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGA GGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGG GGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCG CCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCCA TGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCAC GGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACA CTCGCCAGGAGCCCATGTGAGGCGCGGGGGGCACACTCGCCAGGAGCCCA TGTGAGGAGGTGCCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGC GCCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGG CACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCA GGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCCATG TGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCG GGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCC AGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAG GAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGTGGGG GGCACACTCGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(951): Show GCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCTCTCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTTCCCTCCCCCCTCC CCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCCTCCCCCCTTCCCTC CCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCC CTTCCCTCCCCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCTTCCCCT CCCCTCCCCTTCCCTCCCGCCTCCCCTTCCCCCCTCCCCTCCCCTCCCCC TCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCC CCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTTCGCCTCCCCTCC CCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCCCTCCCTTCCCCT CCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCCTCCCCCCTCC TCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCC TCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCT CTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCACCCCTCC CCTCCCCAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0004 a0001c0018t0004	a0001c0018t0004g0192 a0001c0018t0004g0192	1	278	0.0036	958	c.115 others(975): Show c.1157+156_1157+157insCCCTCCCCTCCCTCCCCCTCCCCTCCCC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCTCCCCCTGCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCCCTCCCCT CCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCTCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTTCCCTCCCCCC TCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCCTCCCCCCTTCC CTCCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCC CCCCTTCCCTCCCCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCTTCC CCTCCCCTCCCCTTCCCTCCCGCCTCCCCTTCCCCCCTCCCCTCCCCTCC CCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCT TCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTTCGCCTCCCC TCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCCCTCCCTTCC CCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCCTCCCCCC TCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCTCCTCTC CCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTC CCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCACCCC TCCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MPPED1_chr22_43407014_43512848	43432640	A A	AAAGGGAG others(951): Show AAAGGGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAG AGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAG AGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAG AGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAAAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAG AAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAG GGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0214 a0001c0002t0007g0214	1	250	0.0040	958	c.225 others(975): Show c.225-2394_225-2393insAAGGGAGGAGAGAGAGGGAAAGAGAGAG AGAAGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGG AAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGA GGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAG GGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAG GAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGAAAGGGAGGAGAGAG AGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAT AAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGA GGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAA AGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537435	G G	GGGCCAGC others(951): Show GGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCTGTCCGGGAG GGAGGTGGGGGGGTCAGCCCTCCGCCGGGCCAGCCGCCCCGTCTGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGGCCCCCC TGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCA GGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCAT CCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGTGCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCACGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAG CCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGC CCTCCGCCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0218 a0001c0002t0008g0218	1	256	0.0039	958	c.241 others(977): Show c.241+14670_241+14671insGGGCGGAGGGCTGACCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCC CTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGTGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCA GGCGGGGGACTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCC ACACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCCGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCAGACGGGGCGGCTGGCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSR1_chr8_16102881_16197651	16189577	A A	ATATTTTA others(951): Show ATATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATT TGATATATATTTTTTATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT TTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAATCTTA CTTTATATATATTTTATATATATATAAAATCTTACTTTATATATATTTTA TATATATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTATT TTATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATC TTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTT ATATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTT ATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTT ATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATC TTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATT TTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAA TCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATA TTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAA AATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATA TATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATAT AAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT ATAAAATCT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0095 a0002c0002t0004g0095	1	330	0.0030	958	c.-5+ others(973): Show c.-5+3020_-5+3021insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATA TATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATAT AAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATA TATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATAT ATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTA TATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATAT ATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTT TATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAAT ATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGAT TTTATATATATATAAAATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGAT TTTATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAAT ATATATAAAATAAGATTTTATATATATAAAATAAGATTTTATATATATAA AATATATATAAAGTAAGATTTTATATATATAAAATATATATAAAGTAAGA TTTTATATATATATAAAATATATATAAAGTAAGATTTCATATATATAAAA TATAAAGTAAGATTTTATATATATATAAAATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATA TATATAAAATATATAAAAAATATATATCAAATATATATAAAATAAGATTT TATATATATATAAAATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250615	C C	CTGAGGCA others(951): Show CTGAGGCAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGG AGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAG AAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGA GAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGA AGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAG AAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAA GGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGA AGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAG GAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAA GAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGG AGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAG AAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGA GAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGA AGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAG AAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAA GGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGA AGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAG GAGAAGAAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	294	0.0034	958	c.677 others(973): Show c.677+290_677+291insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTT CTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCT CCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTC TTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTC CTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCT TCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCC TTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTT CTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCT TCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTC TCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTT CTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCT CCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTC TTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTC CTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCT TCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCC TTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTT CTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTTCTTCTTCTTTC TTCTTCTTCTTCTTCTTCTTCTGCCTCA	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
NEU4_chr2_241804193_241822413	241806229	C C	CCCTCCCC others(951): Show CCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACC CTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCC TCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACCTTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAG GGACCTCCGCAGGCCACCCTCCCTCCCTCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCT CAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGA CCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCC ACCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	319	0.0031	958	c.-30 others(969): Show c.-3049_-3048insCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGA CCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCC ACCTTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAG GGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCTCA ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCC TCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCTTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCC CCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAG GGACCTCCGCAGGCCACCCTCCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2963		chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136528443	G G	GGGGGGAT others(951): Show GGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGATGGGCAGGG ACAGTGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGG TGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGTGGGCAGG GACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGT GAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGCG ATGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGG CAGGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACA GTGGGGCGATGGGCAAGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGG GGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGG GCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGG ACAGTGAGGGGGATGGGCAGGGACAGTGTTGGGGATGAGCAGGGACAGTG CGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGCGGGGG ATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGTTGGGGATGAGC AGGGACAGTGCGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGAC AGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGCG GGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGAT GGGCAGGGACAGTGTTGGGGATGAGCAGGGACAGTGCGGGGGATGGGCAG GGACAGTGA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01496.hp2 HG01358.hp1 HG01496.hp2	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0003 a0001c0008t0009 a0001c0003t0003 a0001c0008t0009	a0001c0003t0003g0319 a0001c0008t0009g0318 a0001c0003t0003g0319 a0001c0008t0009g0318	2	324	0.0062	958	c.141 others(975): Show c.141-4465_141-4464insTCACTGTCCCTGCCCATCCCCCGCACTG TCCCTGCTCATCCCCAACACTGTCCCTGCCCATCCCCCTCACTGTCCCTG CCCATCCCCCCCACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCCCATC CCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCC ACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCTCATCCCCAACACTGTC CCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCC CATCCCCCTCACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCTCATCCC CAACACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCTCAC TGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCC TGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCA TCCCCCCCACTGTCCTTGCCCATCGCCCCACTGTCCCTGCCCACCCCCCA CTGTCCTTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCC CTGCCCATCGCCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGC CCACCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCC CCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACCCCCCACTGT CCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCC CACCCCCCACTGTCCCTGCCCATCCCCCTCACCGTCCCTGCCCATCCCCC CCTCACCGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCAC TGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCC CATCCCCCTCACTGTCCCTGCCCATCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136528443	G G	GGGGGGAT others(951): Show GGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGATGGGCAGGG ACAGTGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGG TGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGTGGGCAGG GACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGT GAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGCG ATGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGG CAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACA GTGGGGCGATGGGCAAGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGG GGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGG GCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGG ACAGTGAGGGGGATGGGCAGGGACAGTGTTGGGGATGAGCAGGGACAGTG CGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGCGGGGG ATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGTTGGGGATGAGC AGGGACAGTGCGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGAC AGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGCG GGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGAT GGGCAGGGACAGTGTTGGGGATGAGCAGGGACAGTGCGGGGGATGGGCAG GGACAGTGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01168.hp2 HG01099.hp1 HG01168.hp2	a0001 a0001	a0001c0003 a0001c0035 a0001c0003 a0001c0035	a0001c0003t0001 a0001c0035t0001 a0001c0003t0001 a0001c0035t0001	a0001c0003t0001g0200 a0001c0035t0001g0199 a0001c0003t0001g0200 a0001c0035t0001g0199	2	324	0.0062	958	c.141 others(975): Show c.141-4465_141-4464insTCACTGTCCCTGCCCATCCCCCGCACTG TCCCTGCTCATCCCCAACACTGTCCCTGCCCATCCCCCTCACTGTCCCTG CCCATCCCCCCCACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCCCATC CCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCC ACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCTCATCCCCAACACTGTC CCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCC CATCCCCCTCACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCTCATCCC CAACACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCTCAC TGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCC TGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCA TCCCCCCCACTGTCCTTGCCCATCGCCCCACTGTCCCTGCCCACCCCCCA CTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCC CTGCCCATCGCCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGC CCACCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCC CCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACCCCCCACTGT CCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCC CACCCCCCACTGTCCCTGCCCATCCCCCTCACCGTCCCTGCCCATCCCCC CCTCACCGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCAC TGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCC CATCCCCCTCACTGTCCCTGCCCATCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(951): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	304	0.0033	958	c.66+ others(973): Show c.66+3465_66+3466insATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAAC	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(951): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19065.hp1 NA18977.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0061 a0001c0001t0005g0062 a0001c0001t0002g0061 a0001c0001t0005g0062	2	304	0.0066	958	c.66+ others(973): Show c.66+3483_66+3484insGCTAACTTATAACATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(951): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00735.hp1 others(9): Show HG00280.hp1 HG00544.hp1 HG00735.hp1 HG02015.hp2 HG03834.hp2 NA18939.hp1 NA18950.hp1 NA18977.hp2 NA18979.hp2 NA19010.hp2 NA19081.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008	a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 others(9): Show a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0285 a0001c0001t0006g0069 a0001c0001t0008g0097	12	304	0.0395	958	c.66+ others(973): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(951): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTA ACTTATAACTTACAGCTATAGCTATAAGCTAACTTATAACTTACAGCTAT AGCTATAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTAACTTATA ACTTACAGCTATAGCTATAAGCTAACTTATAACTTACAGCTATAGCTATA AGCTAACTTATAACTTACAGCTATAGCTATAAGCTAACTTATAACTTACA GCTATAGCTATAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTAAC TTATAACTTACAGCTATAGCTATAAGCTAACTTATAACTTACAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	304	0.0033	958	c.66+ others(973): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTATAGCTATAGCTATAAGCTAACTTATAACTTACAGCTATAGCTA TAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTAACTTATAACTTA CAGCTATAGCTATAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTA ACTTATAACTTACAGCTATAGCTATAAGCTAACTTATAACTTACAGCTAT AGCTATAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTAACTTATA ACTTACAGCTATAGCTATAAGCTAACTTATAACTTACAGCTATAGCTATA AGCTAACTTATAACTTACAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(951): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTACAGCTAT AGCTATAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTAACTTATA ACTTACAGCTATAGCTATAAGCTAACTTATAACTTACAGCTATAGCTATA AGCTAACTTATAACTTACAGCTATAGCTATAAGCTAACTTATAACTTACA GCTATAGCTATAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTAAC TTATAACTTACAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	304	0.0033	958	c.66+ others(973): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTAACTTATAACTTA CAGCTATAGCTATAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTA ACTTATAACTTACAGCTATAGCTATAAGCTAACTTATAACTTACAGCTAT AGCTATAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTAACTTATA ACTTACAGCTATAGCTATAAGCTAACTTATAACTTACAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(951): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTAACTTATA ACTTACAGCTATAGCTATAAGCTAACTTATAACTTACAGCTATAGCTATA AGCTAACTTATAACTTACAGCTATAGCTATAAGCTAACTTATAACTTACA GCTATAGCTATAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTAAC TTATAACTTACAGCTATAGCTATAAGCTAACTTATAACTTACAGCTATAG CTATAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	304	0.0033	958	c.66+ others(973): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA CAGCTATAGCTATAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTA ACTTATAACTTACAGCTATAGCTATAAGCTAACTTATAACTTACAGCTAT AGCTATAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTAACTTATA ACTTACAGCTATAGCTATAAGCTAACTTATAACTTACAGCTATAGCTATA AGCTAACTTATAACTTACAGCTATAGCTATAAGCTAACTTATAACTTACA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(951): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTAACTTATA ACTTACAGCTATAGCTATAAGCTAACTTATAACTTACAGCTATAGCTATA AGCTAACTTATAACTTACAGCTATAGCTATAAGCTAACTTATAACTTACA GCTATAGCTATAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTAAC TTATAACTTACAGCTATAGCTATAAGCTAACTTATAACTTACAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTACAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	304	0.0033	958	c.66+ others(973): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA CAGCTATAGCTATAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTA ACTTATAACTTACAGCTATAGCTATAAGCTAACTTATAACTTACAGCTAT AGCTATAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTAACTTATA ACTTACAGCTATAGCTATAAGCTAACTTATAACTTACAGCTATAGCTATA AGCTAACTTATAACTTACAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(951): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTACAGCTATAGCTATAAGCTAACTTATAACTTACAGCTATAGCTATA AGCTAACTTATAACTTACAGCTATAGCTATAAGCTAACTTATAACTTACA GCTATAGCTATAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTAAC TTATAACTTACAGCTATAGCTATAAGCTAACTTATAACTTACAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	304	0.0033	958	c.66+ others(973): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTA ACTTATAACTTACAGCTATAGCTATAAGCTAACTTATAACTTACAGCTAT AGCTATAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTAACTTATA ACTTACAGCTATAGCTATAAGCTAACTTATAACTTACAGCTATAGCTATA AGCTAACTTATAACTTACAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(951): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTACAGCTATAGCTATAAGCTAACTTATAACTTACAGC TATAGCTATAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0115 a0001c0001t0008g0115	1	304	0.0033	958	c.66+ others(973): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTACAGCTATAG CTATAAGCTAACTTATAACTTACAGCTATAGCTATAAGCTAACTTATAAC TTACAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(951): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02074.hp2 NA18942.hp2 others(3): Show HG02056.hp2 HG02074.hp2 NA18942.hp2 NA18968.hp1 NA19005.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008	a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0286 others(3): Show a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0286 a0001c0001t0005g0301 a0001c0001t0008g0120 a0001c0001t0008g0121	6	304	0.0197	958	c.66+ others(973): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SART1_chr11_65956734_65985137	65971177	A A	AGCTGCTG others(951): Show AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGG GATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAGCTGA GGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTG GGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGA GGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGG GATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTG GGATTCATG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02165.hp2 HG00438.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0032 a0001c0002t0003g0032	2	384	0.0052	958	c.157 others(977): Show c.1572+3356_1572+3357insGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGCTGAGGAGGGGGATGGGATTCATGAGCTGCTGAGGAGGGG GATGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG AGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCA GAAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGT GGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGG AGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTC ATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGG GGATGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATTCATGAGCT GAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGG GGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATG AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCT GAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGG ATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGG AGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTC ATGAGCTGAGGAGGGGGATGGTGGGATTCATG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19			chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1289357	C C	CCCCGTGT others(951): Show CCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCATGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCATGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCC CTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	290	0.0069	958	c.166 others(975): Show c.1663-901_1663-900insCCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCATGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCAT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC39A11_chr17_72640949_73097688	73007975	A A	AGCCTGTA others(951): Show AGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAA CCTAGGAGGTAGAAGGTGCAGCAAGCCAAGATCACACCACTGCACTCCAG CCTGGGTGACAGAGCGAGACTCAGTCTCAAAAAAAAGAAAAAGAAAAAGA AAAAGAAACATTTGTTGTTGGGGTTTGTTGTTTTTTTTTTGTTTTTTTTT TTTTGAGATGGGGTCTTACTAAATGGTCCAGGCTAGCCTCAAACTCCTTG CTTTAAGCAATCCTCCAGCCTCACAGCATCCCTAGTAGCTGGGACTACAG GCACCTGTCACTGCACCCAGCAGAAACATATTTTTAATAAGATTATTCTG GCTATTTCCTCTGTAGCCTTGCAGAGTGAAGGCACTTACAATGAAAGCTA GCCTGAAGCTCTACCCAAACAACCACACTGCCCTGACCAGGCCGCTCCCT CTGCCCGTGCCGACTGCCCAAGTGTCCTTCCAGCTCCTCCCATTCAGAGC TGAGCTTCACACATGTGGCTCCAGCAAGCTGTGGGCCAGATGAGCCACCA GCCTGGCTGCCCACCAGGTTCAACCTAATCAGGTGCTCCTGATTATAGGG ACACCAGGATATAGACCCAAAAGAACTGAAAACGGTGCTCAAACAAATCC TTGGTCACTCATCTTACTAGCAGCACTATTCACAGTAGCCAAAAGGCAGA ACCAGCCCAAATGTCCAGCAATGGATGAATGGAACACAGTATGGCACGCC CAAACACAGTGGAATATTCTTCATCCAAAAAAAGCAATGACGTTCTCGGC CAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGATGT GGAAGGATCACTTGGGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGT GAGATGCTGTCACTACAAAAAAAAATAAATAAATAAAATAGGCAGGCGTG GCAGCACAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0102 a0001c0006t0007g0102	1	180	0.0056	958	c.306 others(977): Show c.306+22623_306+23580dupATGTGCTGCCACGCCTGCCTATTTTA TTTATTTATTTTTTTTTGTAGTGACAGCATCTCACTATGTTGCCCAGGCT GGTCTTGAACTCCTGGGCCCAAGTGATCCTTCCACATCAGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCGAGAACGTCATTGC TTTTTTTGGATGAAGAATATTCCACTGTGTTTGGGCGTGCCATACTGTGT TCCATTCATCCATTGCTGGACATTTGGGCTGGTTCTGCCTTTTGGCTACT GTGAATAGTGCTGCTAGTAAGATGAGTGACCAAGGATTTGTTTGAGCACC GTTTTCAGTTCTTTTGGGTCTATATCCTGGTGTCCCTATAATCAGGAGCA CCTGATTAGGTTGAACCTGGTGGGCAGCCAGGCTGGTGGCTCATCTGGCC CACAGCTTGCTGGAGCCACATGTGTGAAGCTCAGCTCTGAATGGGAGGAG CTGGAAGGACACTTGGGCAGTCGGCACGGGCAGAGGGAGCGGCCTGGTCA GGGCAGTGTGGTTGTTTGGGTAGAGCTTCAGGCTAGCTTTCATTGTAAGT GCCTTCACTCTGCAAGGCTACAGAGGAAATAGCCAGAATAATCTTATTAA AAATATGTTTCTGCTGGGTGCAGTGACAGGTGCCTGTAGTCCCAGCTACT AGGGATGCTGTGAGGCTGGAGGATTGCTTAAAGCAAGGAGTTTGAGGCTA GCCTGGACCATTTAGTAAGACCCCATCTCAAAAAAAAAAAAACAAAAAAA AAACAACAAACCCCAACAACAAATGTTTCTTTTTCTTTTTCTTTTTCTTT TTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGT GATCTTGGCTTGCTGCACCTTCTACCTCCTAGGTTCAAGTGATTCTCCTG TCTCAGCCTCCTGAGTAGCTGGGACTACAGGC	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	4/9			chr17	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAT others(951): Show ATATATATAAATATATATATAAATATATATAAATATATATAAATATATAA ATATATATAAATATATATATAAATATATATAAATATATATAAATATATAA ATATATATAAATATATATATAAATATATATAAATATATATAAATATATAT ATAAATATATATAAATATATATATAAATATATATAAATATATATAAATAT ATATATAAATATATATACATATATATAAATATATATAAATATATATACAT ATATAAATATATAAAAAATATATAAATATATAAAAAATATATAAATATAT AAAAATATATATAAATATATATAAATATATATACATATATATACATATAT ATAAATATATAAAAATATATAAATATATATAAATATAAATATATACAAAT ATATATATAAATATGTATAAATATATAAAAATATATATATAAATATATAA AAATATATATATTAATATATAAAAATATATATATTAATATATAAAAATAT ATATAAATATATATATAAATATATATATATAAATATATATAAAAATATAT ATAAAAATATATATAAATATATATATAAATATATATAAATATATATAAAT ATATATAAATATATATAAATATATATAAATATATATAAATATATATATAA ATATATATAAATATATATATAAATATATATAAACATATATAAATATATAT AAAAATATATATAAATATATATAAATATATATAAATATATATAAAAATAT ATATAAATATATATATAAATATATATAAATATATATATAAATATATATAA ATATATATAAATATATAAAAAATATATATAAATATATAAATATATATATA TAAATATATATAAATATATAAAAAAAATATATATAAATATATATAAATAT ATTTATATATATAAATATATTTATATATAAATATAAATATATATAAATAT ATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	186	0.0054	958	c.-50 others(969): Show c.-5060_-5059insTATATATAAATATATATATAAATATATATAAATA TATATAAATATATAAATATATATAAATATATATATAAATATATATAAATA TATATAAATATATAAATATATATAAATATATATATAAATATATATAAATA TATATAAATATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATATAAATATATATACATATATATAAATATATA TAAATATATATACATATATAAATATATAAAAAATATATAAATATATAAAA AATATATAAATATATAAAAATATATATAAATATATATAAATATATATACA TATATATACATATATATAAATATATAAAAATATATAAATATATATAAATA TAAATATATACAAATATATATATAAATATGTATAAATATATAAAAATATA TATATAAATATATAAAAATATATATATTAATATATAAAAATATATATATT AATATATAAAAATATATATAAATATATATATAAATATATATATATAAATA TATATAAAAATATATATAAAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATAAATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATATAAATATATATAAACA TATATAAATATATATAAAAATATATATAAATATATATAAATATATATAAA TATATATAAAAATATATATAAATATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATAAATATATAAAAAATATATATAAATAT ATAAATATATATATATAAATATATATAAATATATAAAAAAAATATATATA AATATATATAAATATATTTATATATATAAATATATTTATATATAAATATA AATATATATAAATATATATATATT	SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding		4978		chr12	TogoVar
ULK1_chr12_131889622_131928150	131917144	G G	GTCGGGTG others(951): Show GTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAG GCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCG GGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ATGGGGGTCGGGTGGGGCTCAGAGGCTGTGGGATGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGATGGGGGTCGGGGGGAGCTCAGAGGCTGTGGGACGG GGGTCGGGTGGAGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGA TGGGGGTCGGGTGGGGCTCAGAGGCTGTGGGATGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGG GGTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGAT GGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGG GATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTG TGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGG GTGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGT CGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTTGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGA GGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTC GGGTTCGGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	344	0.0029	958	c.218 others(973): Show c.2182+86_2182+87insGTGGGGCTTGGAGGCTGTGGGACGGGGGTC GGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCT GTGGGATGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGGT TCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCAGAGGCTGTGGGATG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGGGGAGCTCA GAGGCTGTGGGACGGGGGTCGGGTGGAGCTCGGAGGCTGTGGGATGGGGC TCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCAGAGGCTGTGGGATGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCT CGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGG GCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAT GGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGG GATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTG TGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGG CTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGG GTTCGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGC TGTGGGATGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARHGEF10_chr8_1818926_1963641	1833057	G G	GACAGAAG others(952): Show GACAGAAGGAGAGAGAGAGAGACAGAGGCAGAGACAGAGGCAGAGAGAGA CAGAGACAGAGGCAGAGAGAGATAGAGGCAGAGAGAGACAGAGACAGAGG CAGAGACAGAGGCAGAGAGAGACAGAGACGGAGAGAGAGACAGAGGCAGA GAGAGAGACAGAGGCAGAGAGAGACAGAGACAGAGGCAGAGACAGAGGCA GAGAGAGACAGAGACGGAGAGAGAGACAGAGGCAGAGAGAGACAGACAGA GGCAGAGGCAGAGACAGAAATAGACAGAGGCAGAGAGAGACACAGGCAGA GACAGAGAGAGACAGAGACAGAGACAGAGAGAGACAGAGACAGGCAGAGA GAGACACAGGCAGAGACAGAGAGAGACAGAGACAGAGAGAGACAGAGACA GGCAGAGAGAGACAGAGGCAGAGACAGCGACAGGCAGAGACAGAGGCAGA GACAGAGACAGGCAGAGACAGAGGCAGAGAGAGACAGAGGGAGAGACAGA AGCAGAGAGAGAGAGAGAGACAGAGGCAGAGAGAGACAGAGACAGAGGCA GAGACAGAGGCAGAGGCAGAGACAGGCAGAGACAGAGGCAGAGGCAGAGA CAGAAGCAGAGGGAGGCAGAGGGAGACAGAGACAGAGGCAGAGACAGAGG CAGAGAGAGACAGAGGCAGAGGCAGAGGCAGAGACAGAGATAGACAGAGG CAGAGAGAGACACAGGCAGAGACAGACAGAGAGACAGAGACAGGCAGAGA GATACAGAGAGACAGAGACAGAGAGACAGGGACAGGCAGAGAGATACAGA GAGACAGAGGCAGAGAGACAGAGACAGGCAGAGAGAGACAGAGAGAGACA GAGGCAGAGAGAGACAGGCAGAGACAGACAGAGACAGAGACAGAGGCAGA GAGAGACAGAGGCGAGACAGAGGCAGAGACAGACAGAGAGACAGAGGCAG AGACAGAAGC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0002 a0002c0033t0002	a0002c0033t0002g0006 a0002c0033t0002g0006	1	363	0.0028	959	c.-48 others(976): Show c.-48+8945_-48+8946insCAGAAGGAGAGAGAGAGAGACAGAGGCA GAGACAGAGGCAGAGAGAGACAGAGACAGAGGCAGAGAGAGATAGAGGCA GAGAGAGACAGAGACAGAGGCAGAGACAGAGGCAGAGAGAGACAGAGACG GAGAGAGAGACAGAGGCAGAGAGAGAGACAGAGGCAGAGAGAGACAGAGA CAGAGGCAGAGACAGAGGCAGAGAGAGACAGAGACGGAGAGAGAGACAGA GGCAGAGAGAGACAGACAGAGGCAGAGGCAGAGACAGAAATAGACAGAGG CAGAGAGAGACACAGGCAGAGACAGAGAGAGACAGAGACAGAGACAGAGA GAGACAGAGACAGGCAGAGAGAGACACAGGCAGAGACAGAGAGAGACAGA GACAGAGAGAGACAGAGACAGGCAGAGAGAGACAGAGGCAGAGACAGCGA CAGGCAGAGACAGAGGCAGAGACAGAGACAGGCAGAGACAGAGGCAGAGA GAGACAGAGGGAGAGACAGAAGCAGAGAGAGAGAGAGAGACAGAGGCAGA GAGAGACAGAGACAGAGGCAGAGACAGAGGCAGAGGCAGAGACAGGCAGA GACAGAGGCAGAGGCAGAGACAGAAGCAGAGGGAGGCAGAGGGAGACAGA GACAGAGGCAGAGACAGAGGCAGAGAGAGACAGAGGCAGAGGCAGAGGCA GAGACAGAGATAGACAGAGGCAGAGAGAGACACAGGCAGAGACAGACAGA GAGACAGAGACAGGCAGAGAGATACAGAGAGACAGAGACAGAGAGACAGG GACAGGCAGAGAGATACAGAGAGACAGAGGCAGAGAGACAGAGACAGGCA GAGAGAGACAGAGAGAGACAGAGGCAGAGAGAGACAGGCAGAGACAGACA GAGACAGAGACAGAGGCAGAGAGAGACAGAGGCGAGACAGAGGCAGAGAC AGACAGAGAGACAGAGGCAGAGACAGAAGCA	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
CFAP61_chr20_20047532_20365698	20320483	A A	ATATTATA others(952): Show ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATATTATATATGTAATATATATTATATA TATTATATATGCAATATATATTATATATTACATATGCAATATATATTATA TATTACATATGTAATATATATTATATATTACATATGTAATATATATTATA TATTACATATGTAATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT ATTATATATTACATATGTAATATATATTACATATGTAATATATATTACAT ATGTAATATATATTACATATATTACATATGTAATATATATTATATATGTA ATATATAATATATATTATATATGTAATATATATTACATATGTAATATATA TTATATATGTAATATATAATATATATTATATATGTAATATATATTATATA TGTAATATATATTATATATGTAATATATATTATATATGTAATATATAATA TATATTATATATGTAATATATAATATATATTATATATGTAATATATATTA TATATGTAATATATAATATATATTATATATGTAATATATATTATATATGT AATATATTACATATATAATATATATTACATATATAATATATATTATATAT GTAATATATATTATATATGTAATATATAATATATATTATATATGTAATAT ATATTATATATATAATATATATTATATATGTAATATATATTATATATATT ATATATGTAATATATATTATATATGTAATATATGTAATATATATTATATA TGTAATATATGTAATATATATTATATATGTAATATATGTAATATATATTA TATATGTAATATATGTAATATATATTATATATGTAATATATGTAATATAT ATTATATATG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	236	0.0042	959	c.342 others(980): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATATT ATATATGTAATATATATTATATATATTATATATGCAATATATATTATATA TTACATATGCAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT TACATATGTAATATATATTACATATGTAATATATATTACATATATTACAT ATGTAATATATATTATATATGTAATATATAATATATATTATATATGTAAT ATATATTACATATGTAATATATATTATATATGTAATATATAATATATATT ATATATGTAATATATATTATATATGTAATATATATTATATATGTAATATA TATTATATATGTAATATATAATATATATTATATATGTAATATATAATATA TATTATATATGTAATATATATTATATATGTAATATATAATATATATTATA TATGTAATATATATTATATATGTAATATATTACATATATAATATATATTA CATATATAATATATATTATATATGTAATATATATTATATATGTAATATAT AATATATATTATATATGTAATATATATTATATATATAATATATATTATAT ATGTAATATATATTATATATATTATATATGTAATATATATTATATATGTA ATATATGTAATATATATTATATATGTAATATATGTAATATATATTATATA TGTAATATATGTAATATATATTATATATGTAATATATGTAATATATATTA TATATGTAATATATGTAATATATATTATATATGTA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
FMN2_chr1_240086883_240480187	240185119	C C	CCCCTTCT others(952): Show CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTT TCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCC TTCTCTTTCTCCCTCCTACACCTTCCCCCTTCTCTTTCTCCCTCCTATAC CTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTC CTACACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTC TCCCTCCTACACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTC TTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCC CTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATAC CTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCT CCTATACCTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0016 a0016	a0016c0011 a0016c0011	a0016c0011t0007 a0016c0011t0007	a0016c0011t0007g0158 a0016c0011t0007g0158	1	174	0.0058	959	c.193 others(978): Show c.1931-3085_1931-3084insTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCT TTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCC CTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATAC CTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTT CTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTACACCTTCCCCCT TCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCT TCCCCTTCTCTTTCTCCCTCCTACACCTTCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCTTCTCTTTCTCCCTCCTACACCTTCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTC TTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTGCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTT TCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCT TCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCTTCTCTTTCTCCCTCCTATACCTTCCC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
GPIHBP1_chr8_143208218_143222170	143218313	A A	AACACCAC others(952): Show AACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCAACAC CACCCCAACACCACCCCCAACACCATCCCCAACACCACCCCCAACACCAT CCCCAACACCCCAATAACCCCCCAACACCACCCCAACACCACCCCCAATA CCACCCCCACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACC CCCAACACCACCCCAACACCACCCCAACACCACCCCCAACACCATCCCCA ACACCACCCCAACACCACCCCCAACACCACCCCCAACACCATCCCCAACA CCACCCCAACACCACCCCCAACACCATCCCCAACACCACCCCAACACCAC CCCCAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCC AACACCACCCAACACCACCCACCACCACCCACCACCACCCACCACAAGGC CCAACACCACCCCCACACCACCCCCAACACCACCCCAACACCACCCCCAA CACCATCCCCAACACCACCCCCAACACCATCCCCAACACCCCAATAACCC CCCAACACCACCACCAACACCACCACAACACCATCCCCAACACCACCCCC AATACCACCCCCACCACCCCCAACACCACCCCAACACCACCCCCAACACC ACCCCCACACCACCCCAATACCTCCCCAACACCACCCCCAACACCACCCC CACACCACCCCCAATACCACCCCCACACCACCCCCATCGCCCCCACACCG CCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCACCACCCCCA CACCACCCCCACACCGCCCCCAACACCATCCCCCACACCACCCCCAACAC CACCCCCACACTGCCCCCACACCAGCCCCAACACCACCCCCAACACCAGC CCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACACCACCCAAC ACCATGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	106	0.0094	959	c.27 others(970): Show c.2795_*2796insACACCACCCCAACACCACCCCCAACACCACCCCA ACACCACCCCAACACCACCCCAACACCACCCCCAACACCATCCCCAACAC CACCCCCAACACCATCCCCAACACCCCAATAACCCCCCAACACCACCCCA ACACCACCCCCAATACCACCCCCACCACCCCCAACACCACCCCCAACACC ACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCAACACCACCC CCAACACCATCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCA ACACCATCCCCAACACCACCCCAACACCACCCCCAACACCATCCCCAACA CCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCAC CCCAACACCACCCCCAACACCACCCAACACCACCCACCACCACCCACCAC CACCCACCACAAGGCCCAACACCACCCCCACACCACCCCCAACACCACCC CAACACCACCCCCAACACCATCCCCAACACCACCCCCAACACCATCCCCA ACACCCCAATAACCCCCCAACACCACCACCAACACCACCACAACACCATC CCCAACACCACCCCCAATACCACCCCCACCACCCCCAACACCACCCCAAC ACCACCCCCAACACCACCCCCACACCACCCCAATACCTCCCCAACACCAC CCCCAACACCACCCCCACACCACCCCCAATACCACCCCCACACCACCCCC ATCGCCCCCACACCGCCCCAACACCACCCCCAACACCACCCCCAACACCA CCCCCACCACCCCCACACCACCCCCACACCGCCCCCAACACCATCCCCCA CACCACCCCCAACACCACCCCCACACTGCCCCCACACCAGCCCCAACACC ACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCCAACACCACCC CCAACACCACCCAACACCATGCCCC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1144		chr8	TogoVar
IFNAR1_chr21_33319970_33364864	33322586	T T	TGGAATAT others(952): Show TGGAATATATATATGGAATATATACATGGAATATATATATGGAATATATA CATGGAATATATGTATATGGAATATATACATGGAATATGTGTATATGGAA TATATACATGGAATATGTGTATATGGAATATATACATGGAATATGTGTAT ATGGAATATATACATGGAATATATATATGGAATATATACATGGAATATAT ATATATGGAATATATACATGGAATATATATATATGGAATATATACATGGA ATATATATATATAGAATATATACATGGAATATATATATGGAATATATACA TGGAATATATATATATGGAATATATACATGGAACATATACATGGAATATA TACATGGAACATATACATGGAATATATACATGGAACATATACATGGAATA TATATATATGGAACATATACGGAATATATATATGGAATATATATACGGAA TATATATATATGGAATATATATACGGAATATATATATGGAATATATATAC GGAATATATATATATGGAATATATATACGGAATATATATATATGGAATAT ATATACGGAATATATATATGGAATATATATATGGAATATGTATATGGAAT ATATATATATGGAATATGTATATGGAATATATATATGGAATATATATATG GAATATATATATATGGAATATATATATGGAATATATATATATGGAATATA TATATGGAATATATATATATGGAATATATATATGGAATATATATATATGG AATATATATATATGGTATATATATATGGAATATATATATATGGAATACAA ATATACGGAATATATATATACGGAATACATATATACGGAATATATATATA CGGAATACATATATACGGAATATATATATACGGAATACATATATACGGAA TATATATATACGGAATACATATATACGGAATATATATATACGGAATACAT ATATACGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0014 a0002c0004t0014	a0002c0004t0014g0211 a0002c0004t0014g0211	1	323	0.0031	959	c.-24 others(970): Show c.-2470_-2469insGGAATATATATATGGAATATATACATGGAATATA TATATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAA TATGTGTATATGGAATATATACATGGAATATGTGTATATGGAATATATAC ATGGAATATGTGTATATGGAATATATACATGGAATATATATATGGAATAT ATACATGGAATATATATATATGGAATATATACATGGAATATATATATATG GAATATATACATGGAATATATATATATAGAATATATACATGGAATATATA TATGGAATATATACATGGAATATATATATATGGAATATATACATGGAACA TATACATGGAATATATACATGGAACATATACATGGAATATATACATGGAA CATATACATGGAATATATATATATGGAACATATACGGAATATATATATGG AATATATATACGGAATATATATATATGGAATATATATACGGAATATATAT ATGGAATATATATACGGAATATATATATATGGAATATATATACGGAATAT ATATATATGGAATATATATACGGAATATATATATGGAATATATATATGGA ATATGTATATGGAATATATATATATGGAATATGTATATGGAATATATATA TGGAATATATATATGGAATATATATATATGGAATATATATATGGAATATA TATATATGGAATATATATATGGAATATATATATATGGAATATATATATGG AATATATATATATGGAATATATATATATGGTATATATATATGGAATATAT ATATATGGAATACAAATATACGGAATATATATATACGGAATACATATATA CGGAATATATATATACGGAATACATATATACGGAATATATATATACGGAA TACATATATACGGAATATATATATACGGAATACATATATACGGAATATAT ATATACGGAATACATATATACGGAA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2383		chr21	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(952): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCACAGCCAC CCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCAC AGCCACCCCCCACAGCCACCCCCACAGCCACCCCCCCACAGCCACCCCCC CACAGCCACCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCCG CCCCCCCCACAGCCACCTCCCCAAAGCCACCTCCCCACAGCCGCCCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCC CCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGC CCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCC GCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAG CCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACA GCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCA CAGCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCC CACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCC CCCCACAGCT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	312	0.0032	959	c.-41 others(974): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCACAGCCA CCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGC CGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCA CAGCCACCCCCCACAGCCACCCCCACAGCCACCCCCCCACAGCCACCCCC CCACAGCCACCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCC GCCCCCCCCACAGCCACCTCCCCAAAGCCACCTCCCCACAGCCGCCCCCC CACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCC CCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCG CCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGC CGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACA GCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCAC AGCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCC ACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCC CCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGC CCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIF25_chr6_167992671_168050091	167997235	G G	GGTCGGGG others(952): Show GGTCGGGGGAATCTGCAGAGATGGGGGCGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGG AATCTGCAGAGATGGGGGCGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTG CAGAGATGGGGGCGGGGAATCTGCAGAGGTGGGGTCGGGGGAATCTGCAG AGATGGGGGCGGGGAATCTGCAGAGGTGGGGTCGGGGGAATCTGCAGAGA TGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGGTGGGGTCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGGTGGGGTCGGGGGAATCTGCAGAGATGG GGGCGGGGAATCTGCAGAGGTGGGGTCGGGGGAATCTGCAGAGATGGGGG CGGGGAATCTGCAGAGGTGGGGTCGGGGGAATCTGCAGAGATGGGGGCGG GGAATCTGCAGAGGTGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGG GAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATAGGGTCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATC TGCAGAGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0010 a0001c0022t0010	a0001c0022t0010g0257 a0001c0022t0010g0257	1	375	0.0027	959	c.-22 others(970): Show c.-2234_-2233insGTCGGGGGAATCTGCAGAGATGGGGGCGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATAG GGTCGGGGGAATCTGCAGAGATGGGGGCGGGGAATCTGCAGAGGTGGGGT CGGGGGAATCTGCAGAGATGGGGGCGGGGAATCTGCAGAGGTGGGGTCGG GGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGTCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGTCGGGGG AATCTGCAGAGATGGGGGCGGGGAATCTGCAGAGGTGGGGTCGGGGGAAT CTGCAGAGATGGGGGCGGGGAATCTGCAGAGGTGGGGTCGGGGGAATCTG CAGAGATGGGGGCGGGGAATCTGCAGAGGTGGGGTCGGGGGAATCTGCAG AGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGA GATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGAT AGGGTCGGGGGAATCTGCAGAGATA	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		435		chr6	TogoVar
LMF1_chr16_848634_975984	857475	G G	GAGTGGTG others(952): Show GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCACGGGACGGGTGTGAGTGGTGTCTCGGGACGCTTGTGAGTGGTGTCAC GGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGTTGTCACGGG ACGGGTGTGCAGTGTTGTCACGGGACGGGTGTGCGTGGTGTCACGGGACG GGTGTGCGTGGTGTCACGGGAGGGGTGTGCGTGGTGTCACGGGACGGGTG TGCGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGC AGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGT GCTGTCACGGGACGGGTGTGCAGTGCTGTCTCGGGACGGGTGTGCAGTGG TGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACG GGACGGGTGTGCAGTGCTGTCACGGGACGGGTGTGCAGTGCTGTCTCGGG ACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCAGGAGACGGGTGTGA GTGGTGTCAGGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGG TGTCTCGGGACGGGTGTGCGTGATGTCACGGGACGGGTGTGCGTGTTGTC TCGGGACGGGTGTGCAGTGTTGTCACGGGACGGGTGTGAGTGTTGTCACG GGACGGGTGTGCAGTGTTGTCACGGGACGGGTGTGCAGTGGTGTCACGGG ACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0010 a0010	a0010c0056 a0010c0056	a0010c0056t0009 a0010c0056t0009	a0010c0056t0009g0136 a0010c0056t0009g0136	1	294	0.0034	959	c.153 others(978): Show c.1530-2770_1530-2769insGCACACCCGTCCCGTGACACCACTGC ACACCCGTCCCGTGACAACACTGCACACCCGTCCCGTGACAACACTCACA CCCGTCCCGTGACAACACTGCACACCCGTCCCGAGACAACACGCACACCC GTCCCGTGACATCACGCACACCCGTCCCGAGACACCACTCACACCCGTCC CGAGACACCACTCACACCCGTCCCCTGACACCACTCACACCCGTCTCCTG ACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACAC CACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACT GCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACAGCACTGC ACACCCGTCCCGTGACAGCACTGCACACCCGTCCCGTGACACCACTCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCG TCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTC CCGAGACAGCACTGCACACCCGTCCCGTGACAGCACTGCACACCCGTCCC GTGACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTG ACACCACTGCACACCCGTCCCGTGACACCACGCACACCCGTCCCGTGACA CCACGCACACCCCTCCCGTGACACCACGCACACCCGTCCCGTGACACCAC GCACACCCGTCCCGTGACAACACTGCACACCCGTCCCGTGACAACACTGC ACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACAA GCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGT CCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCG AGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859094	G G	GGACGGGT others(952): Show GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCAGGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTG TGCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTG TCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCA CGGGATGGGTGTGCAGTGATGTCACGGGATGGGTGTGAGTGGTGTCACGG GATGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACG GGTGTGAGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTG CAGTGGTGTCACGGGACGGGTGTGAGTGATGTCACGGGACGGGTGTGAGT GGTGTCTCGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0087 a0001c0004t0001g0087	1	294	0.0034	959	c.153 others(978): Show c.1530-4389_1530-4388insTCGAGACACCACTCACACCCGTCCCG TGACATCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGA CACCACTGCACACCCGTCCCGAGACACTCACACCCGTCCCGTGACACCAC TCACACCCGTCCCGAGACACCACTCACACCCATCCCGTGACACCACTCAC ACCCATCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCACACC CATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACACCCA TCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCC GTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCA CTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCCTGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCCT CCCGAGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCC GAGACACCACTCACACCCGTCCCGTGACAACACTGCACACCCGTCCCGAG ACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACAC CACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCA CTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGC ACACCCGTCCCGAGACACCACTGCACACCCGTC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MFRP_chr11_119333942_119351705	119351506	C C	CTCCTCTC others(952): Show CTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCC CTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCC CTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCT CTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCT CTCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCC CTCCTCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCTCCTC CGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTC CCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTCTC TCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGC TCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCC TCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCC TCCCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCC TCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTCCCCTCCCCTCTCCTCCGC TCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCC TCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCC TCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCTCCTCCACTCCTCTCCCC TCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCTCTCCCC TCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCCCTCCCC TCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCTTTCTCC TCCCTTGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0023	1	318	0.0031	959	c.-49 others(970): Show c.-4994_-4993insCGGCAAGGGAGGAGAAAGGAGGGGAGGGGAGCCG TGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGAGGAG AGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGAGAGG AGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGAGGGG AGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGG AAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGG AGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGG AGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGG AGGAGAGGGGAGGGGAGCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGG AAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGG AGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGG AGGAGAGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGG AGAGGGGAAGGGAGGGGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGA GGAGTGGAGGAGAGGGGAGCGGAGCGGAGGAGAGAGGGGAGGGGAGGAGA GGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGA GGGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGA GAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGA GGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGA GGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGAGGAGGGGAGGGGA GGGGAGGACAGAGGAGGAGAGAGGA	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4802		chr11	TogoVar
MGRN1_chr16_4619826_4695972	4648769	C C	CGGGGGCT others(952): Show CGGGGGCTGTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGGCTCTTCCC CGTGGTCACCCGGCTCCTCCTCCCGGGGCTCTTCCCGTGGTTACCCGGGT CCTCCTCCCGGGGACTCTTCCCATGGTCACCCGGGTCCTCCTCCCGGGGG CTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTC ACCCGGCTCCTCCTCCCGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTC TCCGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGGCTCTTCC CGTGGTCACCCGGCTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGG TCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGG GCTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGT CACCCGGCTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCC TCCCGGGGGCTCTTCCCGTGGTCACCCGGGTCCTCCTCTCTGGGGCTCTT CCCGTGGTCACCCGGCTCCTCCTCCCGGGGGCTGTTCCCGTGGTCACCCG GCTCCTCCTCCCAGGGGCTCTTCCCCGTGGTCACCCGGCTCCTCCTCCCG GGGCTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGACTCTTCCCATG GTCACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGGTCCT CCTCTCCGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGTGGTCAC CCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCC CGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGAGGGCTCTTCCC CGTGGTCACCCGGCTCCTCCTCCCGGGGCTCTTCCCGTGGTCACCCGGCT CCTCCTCCCG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03195.hp1 HG01099.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0005 a0001c0002t0004g0003 a0001c0002t0003g0005 a0001c0002t0004g0003	2	334	0.0060	959	c.89- others(974): Show c.89-1592_89-1591insGCTGTTCCCGTGGTCACCCGGCTCCTCCTC CCGGGGGCTCTTCCCCGTGGTCACCCGGCTCCTCCTCCCGGGGCTCTTCC CGTGGTTACCCGGGTCCTCCTCCCGGGGACTCTTCCCATGGTCACCCGGG TCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGG GCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGCTCTTCCCGTGGTC ACCCGGCTCCTCCTCTCCGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCT CCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGGCTCTTC CCGTGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGG CTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGG GGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGGCTCTTCCCGTGG TCACCCGGCTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGGTCCTC CTCTCTGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGGCTGT TCCCGTGGTCACCCGGCTCCTCCTCCCAGGGGCTCTTCCCCGTGGTCACC CGGCTCCTCCTCCCGGGGCTCTTCCCGTGGTCACCCGGGTCCTCCTCCCG GGGACTCTTCCCATGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGT GGTCACCCGGGTCCTCCTCTCCGGGGCTCTTCCCGTGGTCACCCGGCTCC TCCTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTCA CCCGGCTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTC CCGAGGGCTCTTCCCCGTGGTCACCCGGCTCCTCCTCCCGGGGCTCTTCC CGTGGTCACCCGGCTCCTCCTCCCGGGGG	MGRN1	ENSG00000102858.13	transcript	ENST00000262370.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MGRN1_chr16_4619826_4695972	4648769	C C	CGGGGGCT others(952): Show CGGGGGCTGTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGGCTCTTCCC CGTGGTCACCCGGCTCCTCCTCCCGGGGCTCTTCCCGTGGTTACCCGGGT CCTCCTCCCGGGGACTCTTCCCATGGTCACCCGGGTCCTCCTCCCGGGGG CTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTC ACCCGGCTCCTCCTCCCGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTC TCCGGGGCTCTTCCCGTGGTCACCCGGCTCGTCCTCCCGGGGGCTCTTCC CGTGGTCACCCGGCTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGG TCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGG GCTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGT CACCCGGCTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCC TCCCGGGGGCTCTTCCCGTGGTCACCCGGGTCCTCCTCTCTGGGGCTCTT CCCGTGGTCACCCGGCTCCTCCTCCCGGGGGCTGTTCCCGTGGTCACCCG GCTCCTCCTCCCGGGGGCTCTTCCCCGTGGTCACCCGGCTCCTCCTCCCG GGGCTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGACTCTTCCCATG GTCACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGGTCCT CCTCTCCGGGGCTCTTCCCATGGTCACCCGGCTCCTCCTCCCGTGGTCAC CCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCC CGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGAGGGCTCTTCCC CGTGGTCACCCGGCTCCTCCTCCCGGGGCTCTTCCCGTGGTCACCCGGCT CCTCCTCCCG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0001 a0001c0002t0005g0001	1	334	0.0030	959	c.89- others(974): Show c.89-1592_89-1591insGCTGTTCCCGTGGTCACCCGGCTCCTCCTC CCGGGGGCTCTTCCCCGTGGTCACCCGGCTCCTCCTCCCGGGGCTCTTCC CGTGGTTACCCGGGTCCTCCTCCCGGGGACTCTTCCCATGGTCACCCGGG TCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGG GCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGCTCTTCCCGTGGTC ACCCGGCTCCTCCTCTCCGGGGCTCTTCCCGTGGTCACCCGGCTCGTCCT CCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGGCTCTTC CCGTGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGG CTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGG GGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGGCTCTTCCCGTGG TCACCCGGCTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGGTCCTC CTCTCTGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGGCTGT TCCCGTGGTCACCCGGCTCCTCCTCCCGGGGGCTCTTCCCCGTGGTCACC CGGCTCCTCCTCCCGGGGCTCTTCCCGTGGTCACCCGGGTCCTCCTCCCG GGGACTCTTCCCATGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGT GGTCACCCGGGTCCTCCTCTCCGGGGCTCTTCCCATGGTCACCCGGCTCC TCCTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTCA CCCGGCTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTC CCGAGGGCTCTTCCCCGTGGTCACCCGGCTCCTCCTCCCGGGGCTCTTCC CGTGGTCACCCGGCTCCTCCTCCCGGGGG	MGRN1	ENSG00000102858.13	transcript	ENST00000262370.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MRTFA_chr22_40405289_40641719	40537435	G G	GGGCCAGC others(952): Show GGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAG GGAGGTGGGGGGGTCAGCCCTCCGCCGGGCCAGCCGCCCCGTCTGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGGCCCCCC TGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCA GGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCAT CCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGTGCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCACGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAG CCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAG CCCTCCGCCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0237	1	256	0.0039	959	c.241 others(978): Show c.241+14670_241+14671insGGGCGGAGGGCTGACCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTC CCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGTGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCC AGGCGGGGGACTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCC CACACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCG GCTGGCCCGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
NXN_chr17_794310_984776	841437	A A	AGCAGGTC others(952): Show AGCAGGTCCCCCCGACCACAGCGCATCTCACACCCGCGAGCAGGTCCCCC CTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCCCCCAACCACAGCG CATCTCATGCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCC ACAGGCAGGTCCCCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCC CCCCTGACCACAGCGCATCTCACACTGGCGAGCAGGTCCCCCCTGACCAC AGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGAGCATCTCAC ACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCA GGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGAC CACGGCGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATC TCACGCCGGCGAGCAGGTCCACCCTGACCACAGCGCATCTCACGCCGGCG AGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCC CGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGC ATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCA CAGGCAGGTCCCCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCC CCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGC GCATCTCACATCCACGGGCAGGTCCCCCCTGACCACAGAGCATCTCACAC GGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACGCCGGCGAGCAGG TCCACCCTGACCACAGCGCATCTCACGCCGGCGAGCAGGTCCCCCCGACC ACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTC ACACCCACAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	242	0.0041	959	c.361 others(978): Show c.361-15360_361-15359insCTGTGGGTGTGAGATGCGCCGTGGTC GGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGC TCGCCGGCGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTCGCCGGCGTG AGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCTGT GGTCAGGGGGGACCTGCCCGTGGATGTGAGATGCGCCGTGGTCGGGGGGA CCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCG TGTGAGATGCTCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGC CGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGG GACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCC CGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCGTGAGATGC GCTGTGGTCAGGGTGGACCTGCTCGCCGGCGTGAGATGCGCCGTGGTCAG GGGGGACCTGCTCGCCGGCGTGAGATGCGCCGTGGTCGGGGGGACCTGCT CGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCGGGTGTGAG ATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGG TCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCTGTGGTCAGGGGGGACC TGCTCGCCAGTGTGAGATGCGCTGTGGTCAGGGGGGACCTGCTCGCCCGT GTGAGATGCTCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCC GTGGTCGGGGGGACCTGCTCGCCGGCATGAGATGCGCTGTGGTTGGGGGG ACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCG GGTGTGAGATGCGCTGTGGTCGGGGGGACCTGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PAK2_chr3_196734857_196837647	196811268	C C	CCCTTCCT others(952): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCC TACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCC TACCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCTTCCCT CCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCT TCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTCC CTTCCCTCCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCC CTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCCTCCCTTC CTTCCCTTCCTTCCTTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCTTCCT TCCCTCCCTTCCTTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTC CCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCCTCCCTTCCTTCCCT TCCTTCCTTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCTTCCTTCCCTCC CTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCTTCCCTTCCTTCCT TCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0123 a0001c0001t0023g0123	1	178	0.0056	959	c.773 others(974): Show c.773+621_773+622insTTCCTTCCTTCCTTCCTTCCTTCCCTCCCT TCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCC TCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTT CCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCC TTCCTTCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCCTCCCTTCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTC CTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTCCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC TTCCTTCCCTTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCC CTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCTTCCCTTCCTTCCT TCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTCCCTTCCTTC CCTTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCCT CCCTTCCTTCCCTTCCTTCCTTCCCTTCCTTCCCTTCCTTCCTTCCCTTC CTTCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCT TCCCTTCCTTCCTTCCCTTCCTTCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196811271	T T	TTCCTTCC others(952): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTAC CCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTAC CCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTAC CCTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCTTCCCT CCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCT TCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTCCCTTC CCTCCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCT TCCTTCCCTTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC TTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCCTC CCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCTTCCTTCCTTCCT TCCTTCCCTCCCTTCCCTCCCTTCCTTCCTCCCTTCCCTCCCTCCCTTCC TTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0169 a0001c0001t0015g0169	1	178	0.0056	959	c.773 others(974): Show c.773+621_773+622insTTCCTTCCTTCCTTCCTTCCTTCCCTCCCT TCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCC TCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCCTCCCTTCCTTCC CTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCT TCCTTCCTTCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCCTTCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCC TTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCTTCCTTCCT TCCTTCCTTCCCTCCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCC TTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCT TCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCCTCCCTTCCTTCCTCCCT TCCCTCCCTCCCTTCCTTCCCTTCCCTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PKP3_chr11_389209_409908	402342	C C	CGGCCCCG others(952): Show CGGCCCCGCTCACCCCCGCCCCGCTCACCCCGGGACCCGCTCACCCCGAC CCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCGGGACCC GCTCACCCCGACCCCGCTCACCCCGGACCCCGCTCACCCCCGGCCCCGCT CACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA CCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCC GGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCC CGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCAGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCA CCCCCGGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACCC CCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCC GACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCC CGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTC ACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCCC GGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCCG ACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCC GCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTC ACACCCGACCTGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCC CGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACACCCGC CCCGCTCACCCCGGACCCCGCTCACCCCCGGCCCCGCTCACCCCGACCCC GCTCACCCCG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	216	0.0046	959	c.173 others(976): Show c.1738-735_1738-734insGCCCCGCTCACCCCCGCCCCGCTCACCC CGGGACCCGCTCACCCCGACCCCGCTCACCCCGGACCCCGCTCACCCCCG CCCCGCTCACCCCGGGACCCGCTCACCCCGACCCCGCTCACCCCGGACCC CGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCT CACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCAC ACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACC CGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCC CCGCTCACCCCCAGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCG CTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGACCCGCTC ACCCCGGACCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCAC CCCCGGCCCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCG GGCCCCGCTCACACCCGCCCCGCTCACACCCGACCCGCTCACACCCGACC CGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCCCGCTC ACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGACCCCGCTCACA CCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCG ACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCC CGCTCACACCCGACCCGCTCACACCCGACCTGCTCACCCCCGGCCCCGCT CACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCC GGGACCCCGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCG GCCCCGCTCACCCCGACCCCGCTCACCCCGG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402342	C C	CGGCCCCG others(952): Show CGGCCCCGCTCACCCCCGCCCCGCTCACCCCGGGACCCGCTCACCCCGAC CCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCGGGACCC GCTCACCCCGACCCCGCTCACCCCGGACCCCGCTCACCCCCGGCCCCGCT CACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA CCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCC GGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCC CGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCAGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCA CCCCCGGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACCC CCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCC GACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCC CGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTC ACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCCC GGACCCTGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCCG ACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCC GCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTC ACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCC CGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACACCCGC CCCGCTCACCCCGGACCCCGCTCACCCCCGGCCCCGCTCACCCCGACCCC GCTCACCCCG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0137 a0001c0028t0001g0137	1	216	0.0046	959	c.173 others(976): Show c.1738-735_1738-734insGCCCCGCTCACCCCCGCCCCGCTCACCC CGGGACCCGCTCACCCCGACCCCGCTCACCCCGGACCCCGCTCACCCCCG CCCCGCTCACCCCGGGACCCGCTCACCCCGACCCCGCTCACCCCGGACCC CGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCT CACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCAC ACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACC CGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCC CCGCTCACCCCCAGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCG CTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGACCCGCTC ACCCCGGACCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCAC CCCCGGCCCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCG GGCCCCGCTCACACCCGCCCCGCTCACACCCGACCCGCTCACACCCGACC CGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCCCGCTC ACCCCCGACCCGCTCACCCCGGACCCTGCTCACACCGGACCCCGCTCACA CCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCG ACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCC CGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCT CACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCC GGGACCCCGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCG GCCCCGCTCACCCCGACCCCGCTCACCCCGG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
RAB11FIP3_chr16_420649_528011	492424	T T	TTCCCGGG others(952): Show TTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGA GGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCC GGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCC CAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAG ACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGC CCTTCCCGGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGA GGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCC CGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCC CAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGA CCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCC CTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGG CCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCG GGAGACCCGAGGCCGTCCAGGGCCCCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCC GAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTT CCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCG CCCAGGGCCC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0065 a0001c0001t0008g0065	1	295	0.0034	959	c.126 others(978): Show c.1265+3424_1265+3425insTCCCGGGGAGACCCGAGGCCGCCCAG AGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCC CAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACC CGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCT TCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGC CGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCG GGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGTCC AGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCC TTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGC CGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGG GAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAG GGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCC GAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGC CCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAG ACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGC CCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
SEL1L2_chr20_13844247_13995614	13934358	C C	CATATATA others(952): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATTCCATATATATATATTCCATATATATATATATTCCATATATA TATATTCCAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	324	0.0031	959	c.115 others(976): Show c.115-2588_115-2587insATGGAATATATATATATGGAATATATAT ATATATGGAATATATATATATGGAATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SIGIRR_chr11_400716_419999	402342	C C	CGGCCCCG others(952): Show CGGCCCCGCTCACCCCCGCCCCGCTCACCCCGGGACCCGCTCACCCCGAC CCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCGGGACCC GCTCACCCCGACCCCGCTCACCCCGGACCCCGCTCACCCCCGGCCCCGCT CACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA CCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCC GGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCC CGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCAGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCA CCCCCGGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACCC CCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCC GACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCC CGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTC ACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCCC GGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCCG ACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCC GCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTC ACACCCGACCTGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCC CGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACACCCGC CCCGCTCACCCCGGACCCCGCTCACCCCCGGCCCCGCTCACCCCGACCCC GCTCACCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	242	0.0041	959	c.35 others(970): Show c.3553_*3554insCGGGGTGAGCGGGGTCGGGGTGAGCGGGGCCGGG GGTGAGCGGGGTCCGGGGTGAGCGGGGCGGGTGTGAGCGGGGTCCCGGGT GAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGTGAGCG GGGCCGGGGGTGAGCAGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGC CGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGG GGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTG AGCGGGGTCCGGTGTGAGCGGGGTCCGGGGTGAGCGGGTCGGGGGTGAGC GGGGCTGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTC GGGTGTGAGCGGGTCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGG GTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGGCCGGGGGTGA GCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGTCCGGGGTGAGC GGGTCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGG GCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCTGGGGGTGAGCGGGGCG GGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTG TGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGA GCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCG GGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGT CCGGGGTGAGCGGGGTCGGGGTGAGCGGGTCCCGGGGTGAGCGGGGCGGG GGTGAGCGGGGTCCGGGGTGAGCGGGGTCGGGGTGAGCGGGTCCCGGGGT GAGCGGGGCGGGGGTGAGCGGGGCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3373		chr11	TogoVar
SIGIRR_chr11_400716_419999	402342	C C	CGGCCCCG others(952): Show CGGCCCCGCTCACCCCCGCCCCGCTCACCCCGGGACCCGCTCACCCCGAC CCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCGGGACCC GCTCACCCCGACCCCGCTCACCCCGGACCCCGCTCACCCCCGGCCCCGCT CACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA CCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCC GGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCC CGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCAGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCA CCCCCGGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACCC CCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCC GACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCC CGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTC ACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCCC GGACCCTGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCCG ACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCC GCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTC ACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCC CGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACACCCGC CCCGCTCACCCCGGACCCCGCTCACCCCCGGCCCCGCTCACCCCGACCCC GCTCACCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	242	0.0041	959	c.35 others(970): Show c.3553_*3554insCGGGGTGAGCGGGGTCGGGGTGAGCGGGGCCGGG GGTGAGCGGGGTCCGGGGTGAGCGGGGCGGGTGTGAGCGGGGTCCCGGGT GAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGTGAGCG GGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGC CGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGG GGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTG AGCGGGGTCCGGTGTGAGCAGGGTCCGGGGTGAGCGGGTCGGGGGTGAGC GGGGCTGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTC GGGTGTGAGCGGGTCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGG GTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGGCCGGGGGTGA GCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGTCCGGGGTGAGC GGGTCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGG GCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCTGGGGGTGAGCGGGGCG GGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTG TGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGA GCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCG GGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGT CCGGGGTGAGCGGGGTCGGGGTGAGCGGGTCCCGGGGTGAGCGGGGCGGG GGTGAGCGGGGTCCGGGGTGAGCGGGGTCGGGGTGAGCGGGTCCCGGGGT GAGCGGGGCGGGGGTGAGCGGGGCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3373		chr11	TogoVar
SLC9A6_chrX_135980435_136052269	135996842	T T	TTGCAAGC others(952): Show TTGCAAGCTCCGCCTCCCGGGTTCACGCCGTTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGT ATTTTTAATAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACTTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTAC AGGCTTGAGCCACCACGCCTGGCCTCATTCATTTATTTTTGGGATGGAGT TTTGCTCTTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCTCGGCTCCTC CGCCTCCCAGGTTCAAGTAATTCTCCTGTCTCAGCCTCCCAAGTAGCGGG GATTACAGGCATGCACCACCATACCTGGCTAATTTTGTATTTTTAAAAGA GATGGGGTTTTGCCATGTCGGTCAGGCAGGTCTCAAACTCCTGACCTCAA GTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGGGC CACAGCACCCAGCCAGGCTTCTTTTATTTAAAGCGAAAGTAATGTTCATG CTTTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCACT CTTTCGCCCAGGCTGGAGTGCACTGGCGCGATCTTGGCTCACTGCAATCT CTGCCTCCCGAGTTCAAGCGACTCTCCTGCCTCAGCCTCCTGAGTAGCTG GGATTACAGGCACACGCCACCACACCCGGCTAATTTTTGTATTTTTAGTA GAGTTGGGGCTTCACCATGTTGGCTAGGCTGGCCTTGAACTCTTGGCTTC AGGTGATCCGCCCATCCGCCCACCTCCGCCTCCCAAAGTGCTGGGATTAC AGGTGTGAGCCACTGCGCCTGGCCCTATTTTTAACTTTTTTCTTGGTTTG TTTAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	199	0.0050	959	c.370 others(976): Show c.370-1257_370-1256insCGCCTCCCGGGTTCACGCCGTTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGG CTAATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCGTGTTAGCCAGG ATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTTGGCCTCCCAAAG TGCTGGGATTACAGGCTTGAGCCACCACGCCTGGCCTCATTCATTTATTT TTGGGATGGAGTTTTGCTCTTGTTGCCCAAGCTGGAGTGCAGTGGCACAA TCTCGGCTCCTCCGCCTCCCAGGTTCAAGTAATTCTCCTGTCTCAGCCTC CCAAGTAGCGGGGATTACAGGCATGCACCACCATACCTGGCTAATTTTGT ATTTTTAAAAGAGATGGGGTTTTGCCATGTCGGTCAGGCAGGTCTCAAAC TCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGGGCCACAGCACCCAGCCAGGCTTCTTTTATTTAAAGCGAAA GTAATGTTCATGCTTTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CAAAGTCTCACTCTTTCGCCCAGGCTGGAGTGCACTGGCGCGATCTTGGC TCACTGCAATCTCTGCCTCCCGAGTTCAAGCGACTCTCCTGCCTCAGCCT CCTGAGTAGCTGGGATTACAGGCACACGCCACCACACCCGGCTAATTTTT GTATTTTTAGTAGAGTTGGGGCTTCACCATGTTGGCTAGGCTGGCCTTGA ACTCTTGGCTTCAGGTGATCCGCCCATCCGCCCACCTCCGCCTCCCAAAG TGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCCTATTTTTAACTTT TTTCTTGGTTTGTTTAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGCGATCTCGGCTCACTGCAAGCTC	SLC9A6	ENSG00000198689.13	transcript	ENST00000630721.3	protein_coding	3/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
TCF3_chr19_1604292_1657615	1628667	G G	GGGGGTGA others(952): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGC GGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCA GAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAG GCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGGAAGGGGACAGC AGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGT GAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGAC AGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGG GGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGATGAGGCGGGAAGGGGACAGCAGAGCT CACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAG GCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGC AGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGA GGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAG CAGAACTCAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0023 a0001c0005t0023	a0001c0005t0023g0032 a0001c0005t0023g0032	1	352	0.0028	959	c.299 others(976): Show c.299-1242_299-1241insGTGAGTTCTGCTGTCCCCTTCCCGCCTC ACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCGTGAGCTCTG CTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCT CACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCG CCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAG CTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTC CCGCCTCATCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCGTG AGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTT CCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCT GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTC CCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT CATCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCC TCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGC TCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTC CCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGT GAGCTCTGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TLCD5_chr11_120320299_120338686	120328679	G G	GTGTGTGT others(952): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCAT ACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTGTGTG TGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAA TCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATA ACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATG CGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGT GTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCT GTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTGT GTGTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTA AGGATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTA TATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTAT GCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTG TGTGTGTGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAATC CCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGA TAACAGTCAT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	432	0.0023	959	c.199 others(976): Show c.199+1068_199+1069insGTGTATGTTTATGTATGCATACCTGTGT CCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTG TGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCT AAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT GTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCAT ATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTG TGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGT GTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCTA ATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTGTCCTAATCCCTT CTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT GTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAAC AGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTATATGTATG CATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCT GTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTGTGTGTGTG TGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAA GGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT ATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGATAACAGTC ATTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar

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Search Results (Total: 6036 hits)