Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(948): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGA GAGGTGGAGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGG AGGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGG GGAGGAGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGGGAGGGGGAGAGGG GGAGAGGGGGAGAGGGGGAGGGGGAGGAGGGGGAGAGGGGAGGAGGGGGA GAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAA GGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAG AGAGAGAGGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAG AAAGAGAGGGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGG CGAGAGAGAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGG TGAGAGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAG AGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAG AGTGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGGGAG AGAGAGAGAGGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGA GAGAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	308	0.0033	955	c.371 others(972): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTTTCTCTCCCCTCTCTCTCTCTCCCTCTCCCTCTCGCCCTCT CCCTCTCTCTCCCTCTCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCT CTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCT CTCTCTTGCCCACCCTCTCTCTCTCTCACCCGCCCTCTCTCTCGCCTGCC CTCTCTCTCGCCCGCCCTCTCTCTCTCGCCCTCTCTCTCTCTCGCCCTCG CCCTCTCTCTCTTGCCCACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTG CCCTCTCTCTCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTCTCACCCG CCCTCTCTCTCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCTCTCCCCC TCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCTCTCCCCC TCCTCCCCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCCTCC CCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTC CTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCC CTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCCC CTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCCTCT CCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCCCTCTCTCCCCCT CTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCT CCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCTC TCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCC CTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PLEKHG4B_chr5_87168_194966	100902	T T	TAATCCAT others(948): Show TAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTG TTGTGAGGTTAATCCATATAAAGCCCTGGGAAAAGCCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAG AGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGG GAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTA GGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGCCT GTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAG CCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAA AAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGG AAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCC TGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAG CCCTGGAAAAAGTCTGTAGGGGAAAGACTGTTGTGAGGTTAATCCATATA AAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCAT ATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATC CATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAA ATCCATATAAAGCCCTGGAAAAAGGTCTGTAGGGGAAAGACTGTTGTGAG GTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGT GAGGTA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02723.hp2 HG03098.hp1 others(2): Show HG02647.hp2 HG02723.hp2 HG03098.hp1 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0032 others(1): Show a0001c0002 a0001c0011 a0001c0032 a0001c0037	a0001c0002t0006 a0001c0011t0029 a0001c0011t0106 others(2): Show a0001c0002t0006 a0001c0011t0029 a0001c0011t0106 a0001c0032t0103 a0001c0037t0006	a0001c0002t0006g0134 a0001c0011t0029g0136 a0001c0011t0106g0085 others(2): Show a0001c0002t0006g0134 a0001c0011t0029g0136 a0001c0011t0106g0085 a0001c0032t0103g0007 a0001c0037t0006g0045	5	210	0.0238	955	c.45+ others(970): Show c.45+8678_45+8679insTAATCCATATAAAGCCCTGGAAAAAGTCTG TAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGC CTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGGAAA AGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGA AAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCT GGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGC CCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAA AGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATA TAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCC ATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAA TCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGT AAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAAAGACTGTTG TGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTG TTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGA CTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAG AGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGGTCTGTAGG GGAAAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGT AGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGTC TGTAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLXNB2_chr22_50269979_50312646	50276402	G G	GCAGGGAG others(948): Show GCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGG GGCGCTGTGGGCACGGCCGTGGGTGCAGCTGCAGGGAGGGGGCGCTGTGG GCACGGCCGAGGGTGCAGCCGCAGGGAGGGGACGCTGTGGGCACGGCCGA GGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCAGGGCTGTGGGTGGAGCC ACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGGGTGGAGCCACAGGGACGG GCGCTGTGGGCACAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGC AGGGCTGCGGGTGGAGCCACAGGGACGGGCGCTGTGGGCACGGCCGTGGG TGGAGCCACAGGGACGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAG GGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCG CTGTGGGCACGGCTGTGGATGGAGCGACAGGGAGGGGGCGCTGTGGGCAG GGCTGTGGGTAGAGCCACAGGGACCGGCGCTGTGGGCACGGCCCTGGGTG CAGCCGCAGGGAGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCCACAGG GAGGGGGCGCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGGGGCGC TGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACG GCCGTGGATGGAGCGACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTG CAGCCGCAGGGATGGGGCGCTGTGGGCACGGCCGTGGATGGAGTGACAGG GAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGC TGTGGGCACGGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACG GCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGATG GAGTGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02886.hp1 HG03540.hp1 others(1): Show HG02818.hp2 HG02886.hp1 HG03540.hp1 NA18522.hp2	a0002 a0008 a0002 a0008	a0002c0071 a0008c0035 a0008c0036 a0002c0071 a0008c0035 a0008c0036	a0002c0071t0003 a0008c0035t0003 a0008c0036t0003 a0002c0071t0003 a0008c0035t0003 a0008c0036t0003	a0002c0071t0003g0093 a0008c0035t0003g0092 a0008c0035t0003g0094 others(1): Show a0002c0071t0003g0093 a0008c0035t0003g0092 a0008c0035t0003g0094 a0008c0036t0003g0054	4	302	0.0133	955	c.533 others(972): Show c.5337+226_5337+227insTCACTCCATCCACGGCCGTGCCCACAGC GCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCTCCC TGTCACTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCA CCCACGGCCGTGCCCACAGCGCCCCCTCCCTGTCACTCCATCCACGGCCG TGCCCACAGCGCCCCATCCCTGCGGCTGCACCCACGGCCGTGCCCACAGC GCCCCCTCCCTGTCGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCC TGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCTCCCTGTCACTCCA TCCACGGCCATGCCCACAGCGCCCCCTCCCTGTGGCTGCACCCACGGCCG TGCCCACAGTGCCCCCTCCCTGCGGCTGCACCCAGGGCCGTGCCCACAGC GCCGGTCCCTGTGGCTCTACCCACAGCCCTGCCCACAGCGCCCCCTCCCT GTCGCTCCATCCACAGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCAC CCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGT GCCCACAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGC CCGTCCCTGTGGCTCCACCCGCAGCCCTGCCCACAGCGCCCCTCCCTGTC GCTCCATCCACGGCTGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCAC AGCCCTGCCCACAGCGCCCCCTCCCTGTGGCTCCACCCACAGCCCTGCCC ACAGCGCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGTCCC CTCCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCAG CTGCACCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTC GGCCGTGCCCACAGCGCCCCCTCCCTG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PPP1R14C_chr6_150138044_150255392	150167973	T T	TCCTTCTC others(948): Show TCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCT CCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCT CCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCC CCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTT CTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCGTCTTTCTCT CCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTC TCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCT TCCTCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	312	0.0032	955	c.306 others(974): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCT TTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCT CCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCC TCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCGT CTTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTC TCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCT CCTCCCCTTCCTCCCCTTCTCTCCTCCCC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(948): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATATGTAATACACAATATATATTATATAATATGTAATACACAATATATA TTATATAATATGTAATACACAATATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATATGTAATACACAATATATTATATAAT AATATGTAATACACAATATATTATATAATAATATGTAATACACAATATAT TATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACATTATACATTATTATATAA GTATATGTAATACATTATACATTATTATATAAGTATATGTAATATATATT ATACATTATTATATAAGTATATGTAATATATATTATACATTATTATATAA GCATATAATATATAATACATAATACATTATATATAAGCATATAACAATAC ATAATA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0151 a0001c0001t0025g0151	1	220	0.0046	955	c.24+ others(972): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATATGTAATACACAATATATATTATATA ATATGTAATACACAATATATATTATATAATATGTAATACACAATATATAT TATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATATGTA ATACACAATATATTATATAATAATATGTAATACACAATATATTATATAAT AATATGTAATACACAATATATTATATAATAATATGTAATACACAATATAT TATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACATTATACATTATTATATAAGTATATGTAATACATTATACATTATTATA TAAGTATATGTAATATATATTATACATTATTATATAAGTATATGTAATAT ATATTATACATTATTATATAAGCATATAATATATAATACATAATACATTA TATATAAGCATATAACAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RIN3_chr14_92508781_92693994	92547347	C C	CTTTATTT others(948): Show CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTT TATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTAT TTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTT ATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCT TTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTAT CTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATT ATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAA TTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATA AATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAA AATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTAT AAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTTTATTATT ATAAAATAAATTATCTTTTTATTATTATAAAATAAATTATCTTTATTTTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTT TATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTAT TTTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAATAAATTAT CTTTAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	334	0.0030	955	c.45- others(970): Show c.45-8398_45-8397insTTATTATTATAAAATAAATTATCTTTATTT TATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTAT CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATAAAATAA ATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAAT AAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAA ATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATA AAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTA TAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTAT TATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTT ATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATT TTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTA TTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTT TATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATC TTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTA TCTTTTTATTATTATAAAATAAATTATCTTTTTATTATTATAAAATAAAT TATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAA ATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAAT AAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATTAT AAAATAAATTATCTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAATAAATTATCTTTATTTTATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92547347	C C	CTTTATTT others(948): Show CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTA TTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTA TTTTATTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTAT CTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATT ATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAA TTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATAAA ATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATA AAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTA TAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTAT TATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTT ATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATT TTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTA TCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAA ATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTT ATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCT TTATTTTATTATAAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAATAAATTAT CTTTAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0025 a0003c0025	a0003c0025t0005 a0003c0025t0005	a0003c0025t0005g0186 a0003c0025t0005g0186	1	334	0.0030	955	c.45- others(970): Show c.45-8398_45-8397insTTATTATTATAAAATAAATTATCTTTATTT TATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTAT CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTA TAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTAT TATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTT ATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTT ATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCT TTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTAT CTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATT ATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAA TTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATA AATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATT ATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATT TTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTA TCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAA ATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATA AAATAAATTATCTTTATTTTATTATAAAATTATCTTTATTTTATTATTAT AAAATAAATTATCTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAATAAATTATCTTTATTTTATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD11_chr1_918923_949574	934237	A A	AGGCGGCT others(948): Show AGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG CGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCTGCTCCGTTACAG GTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCG TTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCG GCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGG GGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGG GCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTAC AGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTG CGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGG GGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGT GGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTT ACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGC TGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGG GGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGC GGGGGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	434	0.0023	955	c.843 others(972): Show c.843-1528_843-1527insGCGTTACAGGTGGGCGGGGGGGGCGGCT GCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACAG GTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGG CTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGG GGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGT GGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTT ACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGC TGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGG GGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGC GGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCG TTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCG GCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGG GGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGG GCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTAC AGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTG CGTTACAGGTGGGCGGGGGGGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLAIN1_chr13_77692687_77769229	77703963	T T	TATGTTTT others(948): Show TATGTTTTATAAGTGTATATATACACATATAAAATATATATACATATGTT TTATAAGTGTATATATACACATAAAATATATATACATATGTTTTATATGT GTATATATACACATAAAATATATATACATATGTTTTATATGTGTATATAT ACACATATAAAATATATATACATATGTTTTATATGTGTATATATACACAT ATAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAA TATATATACATATGTTTTATATGTGTATATATACACATATAAAATATATA TACATATGTTTTATATGTGTATATATACACATATAAAATATATATACATA TGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTTT ATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATGT ATATATACATATAAAATATATATACATATGTTTTATATGTATATATACAT ATAAAATATATATACATATGTTTTATATGTATATATATACATATAAAATA TATATACATATAAAATATATACATATAAAATATATATACATATGTTTTAT ATGTATATATACATATAAAACATATATACATATGTTTTATATGTATATAT ACATATAAATATATATACATATGTTTTATATGTATATATATACATAGAAA ATATATATACATATGTTTTATATGTATATATATACATAGAAAATATATAT ACATGTTTTATATGTATATATATACATAGAAAATATATATACATGTTTTA TATGTATATATATACATAGAAAATATATATACATATGTTTTATATGTATA TATATACATAGAAAATATATATACATATGTTTTATATGTATATATATACA TAGAAAATATATATACATATGTTTTATATGTATATATACATAGAAAATAT ATATAC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	300	0.0033	955	c.626 others(972): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATAAAATATATATACATAT GTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATA CACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAAT ATATATACATATGTTTTATATGTGTATATATACACATATAAAATATATAT ACATATGTTTTATATGTGTATATATACACATATAAAATATATATACATAT GTTTTATATGTATATATACATATAAAATATATATACATATGTTTTATATG TATATATACATATAAAATATATATACATATGTTTTATATGTATATATATA CATATAAAATATATATACATATAAAATATATACATATAAAATATATATAC ATATGTTTTATATGTATATATACATATAAAACATATATACATATGTTTTA TATGTATATATACATATAAATATATATACATATGTTTTATATGTATATAT ATACATAGAAAATATATATACATATGTTTTATATGTATATATATACATAG AAAATATATATACATGTTTTATATGTATATATATACATAGAAAATATATA TACATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTT TTATATGTATATATATACATAGAAAATATATATACATATGTTTTATATGT ATATATATACATAGAAAATATATATACATATGTTTTATATGTATATATAC ATAGAAAATATATATACATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SRXN1_chr20_641615_658200	642182	G G	GGGGGTGG others(948): Show GGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGT GGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGA GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGC CCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGC CCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGC CTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAG TTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGC CCAGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	955	c.65 others(966): Show c.6531_*6532insTGCTGGGCCCCCCCCCCACAGGCAACTCCACCCC CGCTGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACA GGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACCCCA CCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCC GCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTG GGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCC CATCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCC CCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCC CGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCC CAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCT GGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACCCCACCCCCGC TGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCC CCCCCCAGGCAACTCCACCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4432		chr20	TogoVar
TLCD5_chr11_120320299_120338686	120328678	A A	AGTGTGTG others(948): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACC TGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGT GTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTGTCCTAATC CCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTAT GTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAAC AGTCATATTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATA TGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGT GTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTG TGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCC TTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGT TTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTC ATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCA TACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTGTGT GTGTGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAATCCCT TCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGATAACAGT CATAGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	432	0.0023	955	c.199 others(972): Show c.199+1103_199+1104insGTAAGGATAACAGTCATATTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCAT ATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTGTC CTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGT GTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTT TGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCA TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCAT ATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTG TGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGT ATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATA ACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATG TATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGT GTGTGTGTGTGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTA ATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGAT AACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTAT GTATGCATACCTGTGTCCTAATCCCTT	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(948): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAAC AGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCG TATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGT GTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTATGTTTATGTATGCATATCTGTGTCCTAATCCCTTCTAA GGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGT TTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTC ATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTATATGTATGCATA TCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCC CTTGTAAGGATAACAGTCATTTTGTGTGTGTGTGTGTGTGCGTGTATGTT TGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCA TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTT ATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTG TGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGT GTGCGC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03942.hp1 HG02602.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0237 a0001c0001t0004g0244 a0001c0001t0004g0237 a0001c0001t0004g0244	2	432	0.0046	955	c.199 others(972): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAAT CCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTG TTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGT CATATTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATAT GTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTG TCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGT GTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCT TCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTT TGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCA TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCAT ACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTGTGTG TGTGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTT CTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTT TATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATT GTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(948): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAAC AGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCG TATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGT GTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTGTCCTAATCCC TTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTAT GTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAAC AGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTATATGTATG CATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGT CCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTGTGTGTGTGTGCG TGTATGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGAT AACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGT TTATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTG TGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGT GTGCGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	432	0.0023	955	c.199 others(972): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAAT CCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTG TTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGT CATATTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATAT GTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATA TCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGT GTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAAT CCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATG TGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACA GTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTAT GTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTG TGTGTGTGTGTGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTA AGGATAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTT TATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATT GTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(948): Show TGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTG TGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAAT CCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTA TGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAA CAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTAT ATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTG TGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTGTC CTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGT GTGTGTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTC TAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTG TATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATA GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCT GTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTGTGTGTGTG TGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCT AAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT GTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGATAACAGTCAT AGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTG TGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGT GTGCGC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	432	0.0023	955	c.199 others(972): Show c.199+1138_199+1139insTGTGTGTGTGTGCGTGTATGTGTTTGTA TATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGC GTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTG TGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAA TCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGC GTGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATG TATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCT GTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTG TATGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCT AAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGT TTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTT TGTGTGTGTGTGTGTGTGTGCGTGTATGTTTGTATATGTATGCATATCTG TGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTC TAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTT TATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATT GTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TMEM132D_chr12_129066726_129909025	129828693	G G	GAGGGAGA others(948): Show GAGGGAGAAGGAAGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAG GGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGA AAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGG AGGGAGGAAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAG GGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAG GAAAGGAGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGG AGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAG GGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGA AAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAA GGAGGGAGGGAGGGAGGAAAGGAGGAAGGGAGGGAGGGAGGAAAGGAGGG AGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAA GGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGG AGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAG GAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGA AAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAA GGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGG AGGAAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAA GGAGGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03453.hp1 HG02976.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0001 a0001c0001t0014 a0001c0002t0001	a0001c0001t0014g0004 a0001c0002t0001g0074 a0001c0001t0014g0004 a0001c0002t0001g0074	2	94	0.0213	955	c.79+ others(972): Show c.79+74567_79+74568insTCCTCCTTTCCTCCCTCCCTCCCTCCCT CCTTTCCTCCCTCCCTCCCTCCCTTCCTCCTTTCCTCCCTCCCTCCCTCC CTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCT CCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCC TTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTT TCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCC CTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCT CCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCC CTTCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCT CCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCT CCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCTTTC CTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTCCCTCCCTCCCTCCTT TCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCT CCCTCCCTCCCTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCC CTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCC TTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCT CCCTCCTTTCCTCCCTTCCTTCTCCCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129828754	G G	GGGAGGAA others(948): Show GGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGA GGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAGGGAGGGAGG GAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGA GGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGAAGGGAGGGAGGGAGG AAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGG AAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGA GGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGA GGAAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAA AGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGA GGAAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAGGAAGGGAGGGAGGGAGAAGGAAGGGAGGAAAGGAGGGAGGGAGGGAG GGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGA AGAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03710.hp1 HG03017.hp1 HG03710.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0017 a0001c0002 a0004c0017	a0001c0002t0004 a0004c0017t0001 a0001c0002t0004 a0004c0017t0001	a0001c0002t0004g0035 a0004c0017t0001g0016 a0001c0002t0004g0035 a0004c0017t0001g0016	2	94	0.0213	955	c.79+ others(972): Show c.79+74506_79+74507insTTTTCTTCCTCCCTCCCTCCCTCCTTTC CTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCT CCCTTCCTTCTCCCTCCCTCCCTTCCTCCTTTCCTCCCTCCCTCCCTCCC TCCTTTCCTCCCTCCCTCCCTCCCTTCCTCCTTTCCTCCCTCCCTCCCTC CCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCC TCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTC CTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCC TCCCTCCTTTCCTCCCTCCCTCCCTTCCTCCTTTCCTCCCTCCCTCCCTC CTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCC TCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTC CCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCC TCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTC CCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTTCCTCCT TTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTC CCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTC CCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCC TCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCC TCCTTTCCTCCCTCCCTCCTTTCCTCC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TPSD1_chr16_1251069_1264008	1258679	C C	CTGAGCCC others(948): Show CTGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCCACTGC TCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCTTGAGC CCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCCCATCC TGGGCCCCCTCCCCTTTCTGGAGCCCCCTCCCCCACCCTGAGCCCCCTCC CCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGT CCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTCCACCC TCAGCCCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCCTTCCC CTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGCC CCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGTCCCTCCCCCACCC TGAGCCCCTTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCCTCC CCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGT CCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTCCACCC TCAGCCCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCCTTCCC CTTTCTTGAGTCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGCCC CCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGCCCCCTCCCCCACCC TGAGCCCCTTCCCCTTTCTTGAGTCCCTCCCCCACCCTGAGCCCCTTCCC CTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTGAGCC CCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGTCCCTCCTCCATCC TGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTCCACCCTCAGCCCCCTCCC CTTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0001 a0001c0001t0052g0001	1	270	0.0037	955	c.31 others(964): Show c.311_*312insCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCC ACTGCTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCT TGAGCCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCC CATCCTGGGCCCCCTCCCCTTTCTGGAGCCCCCTCCCCCACCCTGAGCCC CCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCT TGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTC CACCCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCC TTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTT GAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGTCCCTCCCC CACCCTGAGCCCCTTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCC CCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCT TGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTC CACCCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCC TTCCCCTTTCTTGAGTCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTG AGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGCCCCCTCCCC CACCCTGAGCCCCTTCCCCTTTCTTGAGTCCCTCCCCCACCCTGAGCCCC TTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTT GAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGTCCCTCCTC CATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTCCACCCTCAGCCCC CTCCCCTTTCTTGAGCCCC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	312	INFO_REALIGN_3_PRIME	chr16	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(948): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0091 a0003c0005t0003g0091	1	174	0.0058	955	c.41- others(972): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TWIST2_chr2_238843085_238915534	238870214	C C	CCACACAC others(948): Show CCACACACACCACACACCCCCCACACACCACACACCATACACACCACACC CCACACACACCACACCCCCCACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCCCACACACCACACACCCCACACACACCACACC CCATACACACCACACCCCACACACACCACACACCCCCCACACACCACACA CCCCACACACACCACACCCCATACACACCACACCCCACACACACCACACA CCCCCCACACACCACACACCCCACACACACCACACCCCACACACACCACA CACCCCCCACACACCACACACCCCACACACACCACACCCCATACACACCA CACCCCACACACACCACACACCCCCCACACACCACACACCCCACACACAC CACACCCCATACACACCACACCCCACACACACCACACACCCCCCACACAC CACACACCCCACACACACCACACCCCACACACACCACACCCCACACACAC CACACCCCATACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCATACATACCACACACCCCCCACACAC CACACCCCACACACACCACACACCCCACACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACACCCCATACACAC CACACACCCCCCACACACCACACCCCATACACACCACACACCCCACACAC ACCACACCCCACACACACCACACCACACACACCACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACACCCCCCACACAC CACACCCCATACACACCACACCCCACACACACCACACACCCCACACACAC CACACACCCCACACACACCACACAAACCACACACCCTACACACCCCACAC ACACCA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0116 a0001c0001t0003g0116	1	338	0.0030	955	c.35 others(974): Show c.35+21490_*35+21491insCACACACCCCCCACACACCACACACC ATACACACCACACCCCACACACACCACACCCCCCACACACCACACCCCAT ACACACCACACCCCACACACACCACACACCCCCCACACACCACACACCCC ACACACACCACACCCCATACACACCACACCCCACACACACCACACACCCC CCACACACCACACACCCCACACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCCCACACACCACACACCCCACACACACCACACC CCACACACACCACACACCCCCCACACACCACACACCCCACACACACCACA CCCCATACACACCACACCCCACACACACCACACACCCCCCACACACCACA CACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACA CACCCCCCACACACCACACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACACCCCATACATACCACA CACCCCCCACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CACCCCATACACACCACACACCCCCCACACACCACACCCCATACACACCA CACACCCCACACACACCACACCCCACACACACCACACCACACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CACCCCCCACACACCACACCCCATACACACCACACCCCACACACACCACA CACCCCACACACACCACACACCCCACACACACCACACAAACCACACACCC TACACACCCCACACACACCACACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(948): Show TATAATAATATAATATATATTATTATATGTTATTATATATAATAATATAA TATATATTATTATATGTTATTATATATAATAATATAATATATATTATTAT ATGTTATTATATATAATAATATAATATATATTATTATATGTTATTATATA TAATAATATAATATATATTATTATATGTTATTATATATAATAATATAATA TATATTATTATATGTTATTATATATAATAATATAATATATATTATTATAT GTTATTATATATAATAATATAATATATATTATTATATGTTATTATATATA ATAATATATATTATTATATGTTATTATATATAATAATATATATTATTATA TGTTATTATATATAATAATATAATATATATTATTATATGTTATTATATAT AATAACATATTATATATTATATGTTATTATATATAATAACATAATATATA TTATATGTTATTATATATAATAACATAATATATATTATATGTTATTATAT ATAATAACATAATATATATTATTATATGTTATTATATATAATAACATAAT ATATATTATTATATGTTATTATATATAATAACATAATATATATTATTATA TGTTATTATATATAATAACATAATATATATTATTATATGTTATTATATAT AATAATATAATATATATTATTATATGTTATTATATATAATAATATAATAT ATATTATTATATGTTATTATATATAATAATATATATTATATTATTATATG TTATTATATATAATAATATAATATATATTATTATATGTTATTATATATAA TAAATAATATATATTATTATATATTATTTATTATATATAATATATATATA ATTATATATATTATATATTATTATATATAATATATATATAATTATATATA TTATATATATTATATATAATAATAATATATATAATTATATATATTATATA TAATAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0006 a0002c0003t0002g0006	1	238	0.0042	955	c.392 others(972): Show c.392+6154_392+6155insTTATTATATATAATATATATAATTATAT ATATTATTATTATATATAATATATATAATATATATAATTATATATATATT ATATATAATAATATATAATATATATAATTATATATATATTATATATAATA AATAATATATAATAATATATATTATTTATTATATATAATAACATATAATA ATATATATTATATTATTATATATAATAACATATAATAATATAATATATAT TATTATATATAATAACATATAATAATATATATTATATTATTATATATAAT AACATATAATAATATATATTATATTATTATATATAATAACATATAATAAT ATATATTATGTTATTATATATAATAACATATAATAATATATATTATGTTA TTATATATAATAACATATAATAATATATATTATGTTATTATATATAATAA CATATAATAATATATATTATGTTATTATATATAATAACATATAATATATA TTATGTTATTATATATAATAACATATAATATATATTATGTTATTATATAT AATAACATATAATATATAATATGTTATTATATATAATAACATATAATAAT ATATATTATATTATTATATATAATAACATATAATAATATATATTATTATA TATAATAACATATAATAATATATATTATTATATATAATAACATATAATAA TATATATTATATTATTATATATAATAACATATAATAATATATATTATATT ATTATATATAATAACATATAATAATATATATTATATTATTATATATAATA ACATATAATAATATATATTATATTATTATATATAATAACATATAATAATA TATATTATATTATTATATATAATAACATATAATAATATATATTATATTAT TATATATAATAACATATAATAATATATATTATATTATTATATATAATAAC ATATAATAATATATATTATATTATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
ABR_chr17_998519_1184981	1119289	C C	CCCAGCGT others(949): Show CCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCT GAGTTCCTCCCAGCATTATCCCTGAACCCGAGTTCCTCCCAGCGTTATCC CTGAGCCCGAGTTCCTCCCAGCATTATCCCTGAGCCCGAGTTCCTCCCAG CGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTT CCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTGA GCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTT ATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCC CAGCGTTATCCCTGAGCCTGAGTCCCTCCCAGCGTTATTGCCTGAGCCTG AGTCCCTCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCC TGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGC GTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTC TCCCCAGCGTTATCGCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGC CTGAGTTCTTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTAT CCCTGAGCCTGAGTTCCCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCC AGCGTTATCCCTGAGCCTGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGA GTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCT GAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCG TTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCT CCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCT GAGTCCT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0264 a0001c0001t0033g0264	1	337	0.0030	956	c.246 others(973): Show c.246+5893_246+5894insAGGACTCAGGCTCAGGGATAACGCTGGG AGGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATA ACGCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGGAGAACTCAGGCTC AGGGATAACGCTGGGGAGGACTCAGGCTCAGGGATAACGCTGGGAGGAAC TCAGGCTCAGGGTTAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTG GGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGG ATAACGCTGGGGGGAACTCAGGCTCAGGGATAACGCTGGGGAGGACTCAG GCTCAGGGATAACGCTGGGAAGAACTCAGGCTCAGGGATAACGCTGGGAG GAACTCAGGCTCAGCGATAACGCTGGGGAGAACTCAGGCTCAGGGATAAC GCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGGAGAACTCAGGCTCA GGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAACT CAGGCTCAGGGTTAACGCTGGGAGGGACTCAGGCTCAGGCAATAACGCTG GGAGGGACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGAT AACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGC TCAGGGTTAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGG AACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACG CTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAG GGATAATGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTC GGGTTCAGGGATAATGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGG GAGGACTCAGGCTCAGGGATAACGCTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ARHGEF10_chr8_1818926_1963641	1833035	G G	GAGAGACA others(949): Show GAGAGACAGAGACAGAGGCAGAGACAGAAGGAGAGAGAGAGAGACAGAGG CAGAGACAGAGGCAGAGAGAGACAGAGACAGAGGCAGAGAGAGAGATAGA GGCAGAGAGAGACAGAGACAGAGGCAGAGACAGAGGCAGAGAGAGACAGA GACGGAGAGAGAGACAGAGGCAGAGAGAGAGACAGAGGCAGAGAGAGACA GAGACAGAGGCAGAGACAGAGGCAGAGAGAGACAGAGACGGAGAGACAGA CAGAGGCAGAGGCAGAGAGAGACAGAGACGGAGAGAGAGACAGAGGCAGA GAGAGACAGACAGAGGCAGAGGCAGAGACAGAAATAGACAGAGGCAGAGA GAGACACAGGCAGAGACAGAGAGAGACAGAGACAGAGACAGAGAGAGACA GAGACAGGCAGAGAGAGACACAGGCAGAGACAGAGAGAGACAGAGACAGA GAGAGACAGAGACAGGCAGAGAGAGACAGAGGCAGAGACAGAGACAGGCA GAGACAGAGGCAGAGAGAGACAGAGGGAGAGACAGAAGCAGAGAGAGAGA GAGAGACAGAGGCAGAGAGAGACAGAGACAGAGGCAGAGACAGAGGCAGA GGCAGAGACAGGCAGAGACAGAGGCAGAGGCAGAGACAGAAGCAGAGGGA GGCAGAGGGAGACAGAGACAGAGGCAGAGACAGAGGCAGAGAGAGACAGA GGCAGAGGCAGAGGCAGAGACAGAGATAGACAGAGGCAGAGAGAGACACA GGCAGAGACAGAGACAGAGAGACAGAGACAGGCAGAGAGATACAGAGAGA CAGAGGCAGAGAGACAGAGACAGGCAGAGAGAGACAGAGAGAGACAGAGG CAGAGAGAGACAGGCAGAGACAGACAGAGACAGAGACAGAGGCAGAGAGA GACAGAGGCAGAGACAGAGGCAGAGACAGACAGAGAGACAGAGGCAGAGA CAGAAGC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02615.hp1 HG02818.hp1 HG01081.hp1 HG02615.hp1 HG02818.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0007 a0004c0044 a0001c0002 a0001c0007 a0004c0044	a0001c0002t0001 a0001c0007t0003 a0004c0044t0002 a0001c0002t0001 a0001c0007t0003 a0004c0044t0002	a0001c0002t0001g0327 a0001c0007t0003g0360 a0004c0044t0002g0328 a0001c0002t0001g0327 a0001c0007t0003g0360 a0004c0044t0002g0328	3	363	0.0083	956	c.-48 others(973): Show c.-48+8945_-48+8946insCAGAAGGAGAGAGAGAGAGACAGAGGCA GAGACAGAGGCAGAGAGAGACAGAGACAGAGGCAGAGAGAGAGATAGAGG CAGAGAGAGACAGAGACAGAGGCAGAGACAGAGGCAGAGAGAGACAGAGA CGGAGAGAGAGACAGAGGCAGAGAGAGAGACAGAGGCAGAGAGAGACAGA GACAGAGGCAGAGACAGAGGCAGAGAGAGACAGAGACGGAGAGACAGACA GAGGCAGAGGCAGAGAGAGACAGAGACGGAGAGAGAGACAGAGGCAGAGA GAGACAGACAGAGGCAGAGGCAGAGACAGAAATAGACAGAGGCAGAGAGA GACACAGGCAGAGACAGAGAGAGACAGAGACAGAGACAGAGAGAGACAGA GACAGGCAGAGAGAGACACAGGCAGAGACAGAGAGAGACAGAGACAGAGA GAGACAGAGACAGGCAGAGAGAGACAGAGGCAGAGACAGAGACAGGCAGA GACAGAGGCAGAGAGAGACAGAGGGAGAGACAGAAGCAGAGAGAGAGAGA GAGACAGAGGCAGAGAGAGACAGAGACAGAGGCAGAGACAGAGGCAGAGG CAGAGACAGGCAGAGACAGAGGCAGAGGCAGAGACAGAAGCAGAGGGAGG CAGAGGGAGACAGAGACAGAGGCAGAGACAGAGGCAGAGAGAGACAGAGG CAGAGGCAGAGGCAGAGACAGAGATAGACAGAGGCAGAGAGAGACACAGG CAGAGACAGAGACAGAGAGACAGAGACAGGCAGAGAGATACAGAGAGACA GAGGCAGAGAGACAGAGACAGGCAGAGAGAGACAGAGAGAGACAGAGGCA GAGAGAGACAGGCAGAGACAGACAGAGACAGAGACAGAGGCAGAGAGAGA CAGAGGCAGAGACAGAGGCAGAGACAGACAGAGAGACAGAGGCAGAGACA GAAGCAGAGACAGAGACAGAGGCAGAGA	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP11A_chr13_112685038_112892168	112872881	C C	CTTCCTGA others(949): Show CTTCCTGAGCAGTGTGAGGTGTGGCTTTGTCTCCCGAACGGTGTGAGGTG TGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTG GTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTC TTCCTGAATGGTGTGAGGTGTGGCTTTGTCTCCCGAAGGGTGTGAGGTGT GGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTCCTTAATGGT GTGAGGTGTGGCTTTGTCTTCCTGAACGGTGTGAGGTGTGGCTTTGTCTT CCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAACGGTGTGAGGTGTG GCTTTGTCTTCCTGAACGGTGTGAGGTGTGGCTTTGTCTTCCTGAACGGT GTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTT CCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTG GCTTTGTCTCCTTAATGGTGTGAGGTGTGGCTTTGTCTTCCTGAACGGTG TGAGGTGTGGCTTTGTCTTCCTGAACGGTGTGAGGTGTGGCTTTGTCTTC CTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGG CTTTGATTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTG TGAGGTGTGGCTTTGTCTCCTGAGTGTTGTGAGGTGTTGCTTTGTCTTCC TGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGATGTGGC TTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGT GAGGTGTGGCTTTGTCTTCCTGAGCGCTGTGAGGTGTGGCTTTGTCTTCC TGAGCGGTGTGAGGTGTGGCTTTGTCTTCTGGAGCGGTGTGAGGTGTGGC TTTGTCT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0005 a0003c0007t0005	a0003c0007t0005g0205 a0003c0007t0005g0205	1	254	0.0039	956	c.305 others(973): Show c.3058-691_3058-690insTCCTGAGCAGTGTGAGGTGTGGCTTTGT CTCCCGAACGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTG TGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCG GTGTGAGGTGTGGCTTTGTCTTCCTGAATGGTGTGAGGTGTGGCTTTGTC TCCCGAAGGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGT GGCTTTGTCTCCTTAATGGTGTGAGGTGTGGCTTTGTCTTCCTGAACGGT GTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTT CCTGAACGGTGTGAGGTGTGGCTTTGTCTTCCTGAACGGTGTGAGGTGTG GCTTTGTCTTCCTGAACGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGT GTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTT CCTGAGCGGTGTGAGGTGTGGCTTTGTCTCCTTAATGGTGTGAGGTGTGG CTTTGTCTTCCTGAACGGTGTGAGGTGTGGCTTTGTCTTCCTGAACGGTG TGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTC CTGAGCGGTGTGAGGTGTGGCTTTGATTTCCTGAGCGGTGTGAGGTGTGG CTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTCCTGAGTGTTGT GAGGTGTTGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCC TGAGTGGTGTGAGATGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGC TTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGCTGT GAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCT GGAGCGGTGTGAGGTGTGGCTTTGTCTT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(949): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCAGGGTCAGAGCAGAGGCGG AGGTGGGAACGTTGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAG AGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGA ACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGC AGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAA CTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCA GAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGAC TGTCGGG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0216 a0002c0002t0002g0216	1	298	0.0034	956	c.955 others(973): Show c.955-6211_955-6210insAACTGTCAGGGTCAGAGCAGAGGCGGAG GTGGGAACGTTGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG AACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAG CAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGG ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGA CTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCA GAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAAC TGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAG AGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACT GTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGA GGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTG TCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(949): Show TCTCTCCCCCCCCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTCT CCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCCT CTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCTC TCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCCT GTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCCT CTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCTCTCTCTCTC CCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCTCCTC CCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTCTCTCTC CCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCTCCCCC TCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTCTCTC TCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTCCCCC TCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCCCCTCTCTCCC TCTCTCCCTCTCCCCCTCTCTCCCTCTCTGCCTCTCCTCCTCTCCCTCTC TCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCCATCTCCCTC TCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTTCTCTC CCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCTCTTCTCCT CTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCTCCCTGTCCC CCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCCTTCTCCTCT CCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCCTCCCTCTCC CCCTCCC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	320	0.0031	956	c.380 others(973): Show c.380-7767_380-7766insCCCCCCTCTCCCTCTCCCTCACCTCCTC TCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTC TCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCAT CCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCC TTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACAT CCTCTCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCA CGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCT CTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCA CGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCT CTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCT CTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCT CTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCT CTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTGCCTCT CCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCT CTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTC CCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATC TCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCC CTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCT CCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCC TCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613670	T T	TCTCCCTC others(949): Show TCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTCTCCCTCTCTCCCTC TCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCCTCTCCCT CTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCTCTCCCTCTCTCCTC CTCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCCTGTCTCCCCCTCTCC TTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCCTCTCCCCCTCTCCCT CTCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCTCTCTCTCTCCCCCCTC CCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCTCCTCCCCCTCT CCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTCTCTCTCCCCCTCT CCCCCTTTCTTCCTCTCCCCTCTCCCTCTCTACCTCTCCCCCTCTACCTC TCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTC TCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTC TCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCC TCTCCCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCTCCTCTTC CCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCCATCTCCCTCTCCCCCCCT TCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCCCCTCTCCCTTCT CTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCTCTTCT CCTCTCCCCTCTCCCCCTCCCCCTCTCCTCCTCTCCCTCTCTCCCTGTCC CCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCCTTCTCCTC TCCCCCTCTCCCCCTCCCTCTCTCCCCTCTCTCCCCCTCCCCCTCCCTCT CCCCCTC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0134 a0001c0001t0004g0134	1	320	0.0031	956	c.380 others(973): Show c.380-7759_380-7758insCTCCCTCTCCCTCACCTCCTCTCTCTCT CCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCC CCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTC CCCCTCTCTCCCTCTCTCCTCCTCCCCTCTCCCCCCTCCCCCTTCCCCTC TCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTC TCCCCCTCTCCCCCTCTCCCTCTCCCCCTCCCTCTCTCCCTCTCCCTCAC GTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTC TCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCAC GTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCTCTCCCTCT CTACCTCTCCCCCTCTACCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCT CGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCT CTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCT CCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCC TCCTCTCCCTCTCTCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTC CCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCT CTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTC TTCCCCATCTCCCCCTCTTCTCCTCTCCCCTCTCCCCCTCCCCCTCTCCT CCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTC CCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCCTC TCTCCCCCTCCCCCTCCCTCTCCCCCTC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10			chr1	TogoVar
COMMD9_chr11_36267292_36294424	36287216	T T	TACTATGT others(949): Show TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	448	0.0022	956	c.51+ others(971): Show c.51+2145_51+2146insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTATGTGGTATACATACTACATGATATACATA GTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACT ACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
DECR2_chr16_396885_417482	397652	C C	CGGGGTGG others(949): Show CGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGA GTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGCGGGTGTGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG GGAGGGTGAGGGAGTCAGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	367	0.0027	956	c.-43 others(967): Show c.-4312_-4311insGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG TGGGGGGGTGAGGGAGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGCGGGTGTGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGGGAGGGTGAGGGAGTCAGGGGGTGGGGGTGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4232		chr16	TogoVar
EHMT1_chr9_137614005_137841127	137716450	G G	GGTGTCAT others(949): Show GGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGT GGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCA TGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGT GTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGT GGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAA GTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGG GGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGT GTCATGGTGGAGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGTCATGGTGGGGAGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGA GGAAGTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0070 a0001c0004t0001g0070	1	170	0.0059	956	c.86- others(969): Show c.86-150_86-149insGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCA TGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGG TGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGG GGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG GTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTC ATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGG GGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTG GAGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCA TGGTGGGGAGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGT GTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF3B_chr7_2349827_2385745	2377945	T T	TGCTGTGT others(949): Show TGCTGTGTTGTGTGAATGACCCTCGGTGTCATGGAGGAAGGAACAGGCGA GCGTTCCTGGGATGCTGTGTTGTGTGAATGACCCTTGGTGTCATGGAGGA AGGAACAGGCGAGCGCTCCTGGGAAGCTGTGTTGTGTGAATGACCCTGGG TGTCAAGGAGGAAGGAGCAGGCGCGAGTGCTGCTGGGAAGCTGTGTTGTG TGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGTGCTGCTGG GAAGCTGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGC GCGAGTGCTGCTGGGAAGCTGTGTTGTGTGAATGACCCTGGGTGTCAAGG AGGAAGGAGCAGGCGCGAGTGCTGCTGGGAAGCCGTGTTGTGTGAATGAC CCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGTGCTGCTGGGAAGCCGT GTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGTGC TGCTGGGAAGCTGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGA GCAGGCGCGAGTGCTGCTGGGAAGCTGTGTTGTGTGAATGACCCTGGGTG TCAAGGAGGAAGGAGCAGGCGCGAGTGCTGCTGGGAAGCCGTGTTGTGTG AATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGTGCTGCTGGGA AGCCGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGC GAGTGCTGCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCAAGGAG GAAGGAGCAGGCGCGAGTGCTGCTGGGAAGCTGTGTTGTGTGAATGACCC TGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGTGCTGCTGGGAAGCTGTGT TGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGTGCTG CTGGGAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0242 a0006c0012t0001g0242	1	384	0.0026	956	c.215 others(973): Show c.2155-742_2155-741insTGTGTTGTGTGAATGACCCTCGGTGTCA TGGAGGAAGGAACAGGCGAGCGTTCCTGGGATGCTGTGTTGTGTGAATGA CCCTTGGTGTCATGGAGGAAGGAACAGGCGAGCGCTCCTGGGAAGCTGTG TTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGTGCT GCTGGGAAGCTGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAG CAGGCGCGAGTGCTGCTGGGAAGCTGTGTTGTGTGAATGACCCTGGGTGT CAAGGAGGAAGGAGCAGGCGCGAGTGCTGCTGGGAAGCTGTGTTGTGTGA ATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGTGCTGCTGGGAA GCCGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCG AGTGCTGCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGG AAGGAGCAGGCGCGAGTGCTGCTGGGAAGCTGTGTTGTGTGAATGACCCT GGGTGTCAAGGAGGAAGGAGCAGGCGCGAGTGCTGCTGGGAAGCTGTGTT GTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGTGCTGC TGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCA GGCGCGAGTGCTGCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCA AGGAGGAAGGAGCAGGCGCGAGTGCTGCTGGGAAGCCGTGTTGTGTGAAT GACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGTGCTGCTGGGAAGC TGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAG TGCTGCTGGGAAGCTGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAA GGAGCAGGCGCGAGTGCTGCTGGGAAGC	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELL_chr19_18437663_18527070	18442449	A A	ACACACCC others(949): Show ACACACCCTCACACCTACACACCCACCACACACCTACACAAACCCCACCC CCACAATCACACCACACCCACACCCCAACACACACCACACCCACACCTAC ACACCCCAACACACCAAACACCCCAACACACACACCACACACCCACTCCA CACCCCAACACACCCCACACCCCCACTGTCACACCACACCCACACCCCAA AACACACCACTGCTCCAACACATACACCACACCCACACTTACACACCTAC ACACCCCAACACACACCACACACACTCCACACCACACGCACCCAACACAC CACACACCCACTTACCCCAACACACACCACACCCCAACACACACCACACA CCACACGCACCCAACACACACACCTACACCCTCATACCACACACCCAGAT ACACCACACCGACACCAACACACCACACCCCCACACCACACCCACACCCC AACACACCACACACCCAACACTGCACACCCCAACACACACCACACCCACA CCCACACCCCAACACACCCAAACCCCAACACACACCACACCCACACCCCA CCACATACCACACACACACCCAACACACACCACATACCCAACACCCTAGC ACGCACTGCATATAATACACCCACACCCTAACACACACCACCACACCCAC ACCCTCACACGCCCATATACACCACACCCACACCACACCCACCCTAACAC ACACACGTCCAGATACACCACACCCACACATGAACACACCCACACAAACC CACACCCTAACACACCACACCCCCAGATACACCACACCCACACACCACAC ATCCACACCCTAACACACACGTCCAGATACACCACCCACACCAACACACC CACACAACACACACCCACACCCTAACACCCCCACAGATAAACCACACACA CCAACACACAACCCACACCCTAACACCACACCCACACCCCCACAGATACC CCACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0228 a0001c0001t0012g0228	1	244	0.0041	956	c.23 others(967): Show c.2302_*2303insGGTGTGGGGTATCTGTGGGGGTGTGGGTGTGGTG TTAGGGTGTGGGTTGTGTGTTGGTGTGTGTGGTTTATCTGTGGGGGTGTT AGGGTGTGGGTGTGTGTTGTGTGGGTGTGTTGGTGTGGGTGGTGTATCTG GACGTGTGTGTTAGGGTGTGGATGTGTGGTGTGTGGGTGTGGTGTATCTG GGGGTGTGGTGTGTTAGGGTGTGGGTTTGTGTGGGTGTGTTCATGTGTGG GTGTGGTGTATCTGGACGTGTGTGTGTTAGGGTGGGTGTGGTGTGGGTGT GGTGTATATGGGCGTGTGAGGGTGTGGGTGTGGTGGTGTGTGTTAGGGTG TGGGTGTATTATATGCAGTGCGTGCTAGGGTGTTGGGTATGTGGTGTGTG TTGGGTGTGTGTGTGGTATGTGGTGGGGTGTGGGTGTGGTGTGTGTTGGG GTTTGGGTGTGTTGGGGTGTGGGTGTGGGTGTGGTGTGTGTTGGGGTGTG CAGTGTTGGGTGTGTGGTGTGTTGGGGTGTGGGTGTGGTGTGGGGGTGTG GTGTGTTGGTGTCGGTGTGGTGTATCTGGGTGTGTGGTATGAGGGTGTAG GTGTGTGTGTTGGGTGCGTGTGGTGTGTGGTGTGTGTTGGGGTGTGGTGT GTGTTGGGGTAAGTGGGTGTGTGGTGTGTTGGGTGCGTGTGGTGTGGAGT GTGTGTGGTGTGTGTTGGGGTGTGTAGGTGTGTAAGTGTGGGTGTGGTGT ATGTGTTGGAGCAGTGGTGTGTTTTGGGGTGTGGGTGTGGTGTGACAGTG GGGGTGTGGGGTGTGTTGGGGTGTGGAGTGGGTGTGTGGTGTGTGTGTTG GGGTGTTTGGTGTGTTGGGGTGTGTAGGTGTGGGTGTGGTGTGTGTTGGG GTGTGGGTGTGGTGTGATTGTGGGGGTGGGGTTTGTGTAGGTGTGTGGTG GGTGTGTAGGTGTGAGGGTGTG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding		213		chr19	TogoVar
FHIT_chr3_59742277_61256452	59867163	T T	TAATCAGC others(949): Show TAATCAGCAGAACCAAGAAAATTTTCGCAACCTACTCATCTGACAAAGGG CTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAAC AAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAA AAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCA CTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCAC ACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGA GAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAA CTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGA ACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAA ATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATT GCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAAC AATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACT ATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATG AAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAA ACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATG GACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGG AGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATT AGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCT GCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	46	0.0217	956	c.348 others(975): Show c.348+55182_348+55183insTTTTTTTTTTTTTTTTTTATTATACT CTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTAT ACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTA GGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGT CCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCA ATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCG ATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAG GATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATAT GTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGT TCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCAT GTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAA TGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATC GCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAG TGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCC TGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAG TGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTC ATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCAT GTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTT GTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAG GTTGCGAAAATTTTCTTGGTTCTGCTGATT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	8/9			chr3	TogoVar
ISYNA1_chr19_18429388_18443133	18442449	A A	ACACACCC others(949): Show ACACACCCTCACACCTACACACCCACCACACACCTACACAAACCCCACCC CCACAATCACACCACACCCACACCCCAACACACACCACACCCACACCTAC ACACCCCAACACACCAAACACCCCAACACACACACCACACACCCACTCCA CACCCCAACACACCCCACACCCCCACTGTCACACCACACCCACACCCCAA AACACACCACTGCTCCAACACATACACCACACCCACACTTACACACCTAC ACACCCCAACACACACCACACACACTCCACACCACACGCACCCAACACAC CACACACCCACTTACCCCAACACACACCACACCCCAACACACACCACACA CCACACGCACCCAACACACACACCTACACCCTCATACCACACACCCAGAT ACACCACACCGACACCAACACACCACACCCCCACACCACACCCACACCCC AACACACCACACACCCAACACTGCACACCCCAACACACACCACACCCACA CCCACACCCCAACACACCCAAACCCCAACACACACCACACCCACACCCCA CCACATACCACACACACACCCAACACACACCACATACCCAACACCCTAGC ACGCACTGCATATAATACACCCACACCCTAACACACACCACCACACCCAC ACCCTCACACGCCCATATACACCACACCCACACCACACCCACCCTAACAC ACACACGTCCAGATACACCACACCCACACATGAACACACCCACACAAACC CACACCCTAACACACCACACCCCCAGATACACCACACCCACACACCACAC ATCCACACCCTAACACACACGTCCAGATACACCACCCACACCAACACACC CACACAACACACACCCACACCCTAACACCCCCACAGATAAACCACACACA CCAACACACAACCCACACCCTAACACCACACCCACACCCCCACAGATACC CCACACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	308	0.0033	956	c.-43 others(967): Show c.-4367_-4366insGGTGTGGGGTATCTGTGGGGGTGTGGGTGTGGTG TTAGGGTGTGGGTTGTGTGTTGGTGTGTGTGGTTTATCTGTGGGGGTGTT AGGGTGTGGGTGTGTGTTGTGTGGGTGTGTTGGTGTGGGTGGTGTATCTG GACGTGTGTGTTAGGGTGTGGATGTGTGGTGTGTGGGTGTGGTGTATCTG GGGGTGTGGTGTGTTAGGGTGTGGGTTTGTGTGGGTGTGTTCATGTGTGG GTGTGGTGTATCTGGACGTGTGTGTGTTAGGGTGGGTGTGGTGTGGGTGT GGTGTATATGGGCGTGTGAGGGTGTGGGTGTGGTGGTGTGTGTTAGGGTG TGGGTGTATTATATGCAGTGCGTGCTAGGGTGTTGGGTATGTGGTGTGTG TTGGGTGTGTGTGTGGTATGTGGTGGGGTGTGGGTGTGGTGTGTGTTGGG GTTTGGGTGTGTTGGGGTGTGGGTGTGGGTGTGGTGTGTGTTGGGGTGTG CAGTGTTGGGTGTGTGGTGTGTTGGGGTGTGGGTGTGGTGTGGGGGTGTG GTGTGTTGGTGTCGGTGTGGTGTATCTGGGTGTGTGGTATGAGGGTGTAG GTGTGTGTGTTGGGTGCGTGTGGTGTGTGGTGTGTGTTGGGGTGTGGTGT GTGTTGGGGTAAGTGGGTGTGTGGTGTGTTGGGTGCGTGTGGTGTGGAGT GTGTGTGGTGTGTGTTGGGGTGTGTAGGTGTGTAAGTGTGGGTGTGGTGT ATGTGTTGGAGCAGTGGTGTGTTTTGGGGTGTGGGTGTGGTGTGACAGTG GGGGTGTGGGGTGTGTTGGGGTGTGGAGTGGGTGTGTGGTGTGTGTGTTG GGGTGTTTGGTGTGTTGGGGTGTGTAGGTGTGGGTGTGGTGTGTGTTGGG GTGTGGGTGTGGTGTGATTGTGGGGGTGGGGTTTGTGTAGGTGTGTGGTG GGTGTGTAGGTGTGAGGGTGTG	ISYNA1	ENSG00000105655.19	transcript	ENST00000338128.13	protein_coding		4317		chr19	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(949): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGC CACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCAC AGCCACCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCCGCCCCC CCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGC CCCCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCAC CTCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAG CCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCAC AGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCC ACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCC CCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCA CCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGC CACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCAC AGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCC CACAGCT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	312	0.0032	956	c.-41 others(971): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCA CAGCCACCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCCGCCCC CCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCG CCCCCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCA CCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACA GCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCA CAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCC CCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCG CCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCC ACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAG CCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCA CAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCC CCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIRREL3_chr11_126418358_127005770	126632686	G G	GCCACAAG others(949): Show GCCACAAGCCTCCTTCCCTGTGCAGCTGCTTTTCTGTCCTGCCCAAGAGC AGCCCTGGGGAGGGGGCAATTGAGTGAGGGACTGCGAATGCCAGAAAACA TGGGTGAGAAGCATGTCCGCACCTCCCACCCAACCTGGTGGGAATCCTGT AAAGCCTGCCTGAACTCTTGTTCATATCGTTGCTGCATACTGGGCATTGG GAGATAAAAATTGATGAGGAGACATTAGTATACTTGTTACAGCAGTGGCT AATATGCAGTGGAGGAGGCTTGTGGGGAGAGAGAGAGAGAGAGAGAAAAG AAGAAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA GGAAGGAACGGTAGCGGCTATCCAAGGTGCGGACAACAGCCCTTATAGCC CTTATGCAGCTCAGATGCCCACTCCATGACAGGTATGAGCTGACCTGGGC ATGCATTCTCTGCAGGGAGACAATTACTGTTGCTGTGTGTGACAGGGTTG ATACATCCTGCTGAAGGTAGGCATCTCTGTGTTTCCTTATTTTGTAATCC TTTCAAGCCTTCTGAATCCAGCCTCTGTCTCCAGCTGTCCAGTTCTGGAC AAGCCTGCTACTCAGTGGAACCCCTCGTTTCTACCCCCAGGTGGTCTAGG CACTGAGGCTACAGAGGGCTATAAGGGCTGTTGTCCGCACCTTGGATAGC CGCTACCGTTCCTTCCTTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTTCCTT CCTTTCCCTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTCTCTCTCTC TCTCTCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02622.hp1 HG02258.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0003t0026 a0001c0002t0004 a0001c0003t0026	a0001c0002t0004g0032 a0001c0003t0026g0026 a0001c0002t0004g0032 a0001c0003t0026g0026	2	114	0.0175	956	c.56- others(973): Show c.56-69775_56-69774insGGAGAGAGAGAGAGAGAGAGAAAAGAAG AAGAAAAAGAAAGGAAAGGAAGGGAAAGGAAGGAAAGGAAGGAGGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGGAGGAAGGAAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAA GGAAGGAAGGAAAGGAAGGAACGGTAGCGGCTATCCAAGGTGCGGACAAC AGCCCTTATAGCCCTCTGTAGCCTCAGTGCCTAGACCACCTGGGGGTAGA AACGAGGGGTTCCACTGAGTAGCAGGCTTGTCCAGAACTGGACAGCTGGA GACAGAGGCTGGATTCAGAAGGCTTGAAAGGATTACAAAATAAGGAAACA CAGAGATGCCTACCTTCAGCAGGATGTATCAACCCTGTCACACACAGCAA CAGTAATTGTCTCCCTGCAGAGAATGCATGCCCAGGTCAGCTCATACCTG TCATGGAGTGGGCATCTGAGCTGCATAAGGGCTATAAGGGCTGTTGTCCG CACCTTGGATAGCCGCTACCGTTCCTTCCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTTCCTTCCT TTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTCTCTCTCTCTCT CTCCCCACAAGCCTCCTCCACTGCATATTAGCCACTGCTGTAACAAGTAT ACTAATGTCTCCTCATCAATTTTTATCTCCCAATGCCCAGTATGCAGCAA CGATATGAACAAGAGTTCAGGCAGGCTTTACAGGATTCCCACCAGGTTGG GTGGGAGGTGCGGACATGCTTCTCACCCATGTTTTCTGGCATTCGCAGTC CCTCACTCAATTGCCCCCTCCCCAGGGCTGCTCTTGGGCAGGACAGAAAA GCAGCTGCACAGGGAAGGAGGCTTGTGG	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
LRRC27_chr10_132327193_132386508	132364472	T T	TACACCCA others(949): Show TACACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCACCCACA CTTACACCTACGCTTACATCTACCTCCACACCCGCACTCACACCCACCCA CACTTACACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCACC CACACTTACACCCACCCTTACATCTACCTCCACACCCGCACTCACACCCA CCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACC CACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACA CCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCGCGCTTA CACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCGCACT CACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACA CTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCA CAATTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACC CACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACA CCCGCACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCA CACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTC CACACCCACACTCACACCCACCCACACTTACACCTACGCTTACATCTACC TCCACACCCACACTTACACTCATGCTTACATCTACCTCCACACCCACACT CACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACGCCCACA CTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCA CACTCACACCCACCCACACTTACACCTACGCTTACATCTACCTCCACACC CACACTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0011 a0002c0004t0010g0011	1	290	0.0035	956	c.129 others(973): Show c.1290-942_1290-941insTTACATCTACCTCCACACCCGCGCTTAC ACCCACCCACACTTACACCTACGCTTACATCTACCTCCACACCCGCACTC ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCGCGC TTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCGC ACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCAC ACCCGCGCTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCC ACACCCGCACTCACACCCACCCACACTTACACCCACCCTTACATCTACCT CCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTAC CTCCACACCCACAATTACACCCACCCACACTTACACCCACCCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACAT CTACCTCCACACCCGCACTCACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCTACGC TTACATCTACCTCCACACCCACACTTACACTCATGCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCT CCACGCCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCTACGCTTACATCT ACCTCCACACCCACACTCACACCCACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(949): Show GCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCCTC CCTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCT CCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCC CTCCCCTCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCT CCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCC CTTCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTTCCCCTCCCCTCCACC CTCCCCCTCTCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCTTCCCCTCC CCTCCCCTTCCCTCCCGCCTCCCCTTCCCCCCTCCCCTCCCCTCCCCCTC CCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCC TTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCC TCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCCCTCCCTTCCCCTCC CCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCCTCCCCCCTCCTC CCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTC CCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCT CCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCC TCCCCAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0132 a0001c0013t0001g0132	1	278	0.0036	956	c.115 others(973): Show c.1157+156_1157+157insCCCTCCCCTCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTGCCCTCCCCCCTCCC CTCCCTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCC CCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTC CCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTC CCCCTCCCCTCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCC CCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCC CCCCTTCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTTCCCCTCCCCTCC ACCCTCCCCCTCTCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCTTCCCC TCCCCTCCCCTTCCCTCCCGCCTCCCCTTCCCCCCTCCCCTCCCCTCCCC CTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTC CCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTTCGCCTCCCCTC CCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCCCTCCCTTCCCC TCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCCTCCCCCCTC CTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCTCCTCTCCC CTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCC TCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCACCCCTC CCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(949): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCCTCC CTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTC CCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCC TCCCCTCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCT CCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCC CTTCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTTCCCCTCCCCTCCACC CTCCCCCTCTCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCTTCCCCTCC CCTCCCCTTCCCTCCCGCCTCCCCTTCCCCCCTCCCCTCCCCTCCCCCTC CCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCC TTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCC TCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCCCTCCCTTCCCCTCC CCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCCTCCCCCCTCCTC CCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTC CCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCT CCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCC TCCCCAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	278	0.0036	956	c.115 others(973): Show c.1157+156_1157+157insCCTCCCCTCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCC TCCCTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCC CTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCC CCCTCCCCTCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCC CCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCC CCCCTTCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTTCCCCTCCCCTCC ACCCTCCCCCTCTCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCTTCCCC TCCCCTCCCCTTCCCTCCCGCCTCCCCTTCCCCCCTCCCCTCCCCTCCCC CTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTC CCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTTCGCCTCCCCTC CCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCCCTCCCTTCCCC TCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCCTCCCCCCTC CTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCTCCTCTCCC CTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCC TCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCACCCCTC CCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGMT_chr10_129462241_129775983	129518568	C C	CCCTCCCC others(949): Show CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTGCCCCCTCCCCTCCCTGCCCCCTCCTCC CCTCCCTCCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCC CCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTCCCCCCTCCCCCTCCTCT TCTTTCACCTCCCCTCCTCTTCCTTCACCTCCCCCTCCCCCCAATCACCT CCCCCTCCCCCCGCTCACCTCCCCCTCCCCCCACTCCTCCCCCTCTCACT CCTCCCCCTCCCTCCTCCCCCTGCCCTTCCCCTCCCTCCTCCCCCTCCTC CCCCTCTCCCTCTCTCTGTCTTCCCCCCTCCCCCTCCCTTTTCCCCCTCC CCCTTCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCC CCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCCT CCCCTCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCTTCCCCCTCCCCTC CCCTCCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTTCCCCCTCC CCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCCTTCCCCTTCCCCCTCCC CCTTCCCCTCCCCCTTACTCTCCCCTTCCCCTTCCCCTCCCCCTTACTCT CCCCTTCCCCTCCCCTCCCCCCTCTCCCTCACCCTCACCCTCCCCCTTCT CCTCCCCTCCCCCCTCTCCATCCCCCTCCCCCTCCCCCTTCTCCTCCCCT CCTCCTCCTTCCCGTCTCCCTCCCCATCTCCATCCCCCTCCCCCTCCTCC TCCTCCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0040 a0001c0005t0040	a0001c0005t0040g0194 a0001c0005t0040g0194	1	194	0.0052	956	c.-12 others(975): Show c.-12-17662_-12-17661insTCCCCTCCCTTCCCCCTCCCCCTCCT CCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCT CCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTGCCCCCTCCCCTCCCT GCCCCCTCCTCCCCTCCCTCCCCCCTCCCCCTCCTCCCCTCCCTTCCCCC TCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTCCCCCC TCCCCCTCCTCTTCTTTCACCTCCCCTCCTCTTCCTTCACCTCCCCCTCC CCCCAATCACCTCCCCCTCCCCCCGCTCACCTCCCCCTCCCCCCACTCCT CCCCCTCTCACTCCTCCCCCTCCCTCCTCCCCCTGCCCTTCCCCTCCCTC CTCCCCCTCCTCCCCCTCTCCCTCTCTCTGTCTTCCCCCCTCCCCCTCCC TTTTCCCCCTCCCCCTTCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCC CCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTC CCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCTT CCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCTTCCCCCTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCCTTCCC CTTCCCCCTCCCCCTTCCCCTCCCCCTTACTCTCCCCTTCCCCTTCCCCT CCCCCTTACTCTCCCCTTCCCCTCCCCTCCCCCCTCTCCCTCACCCTCAC CCTCCCCCTTCTCCTCCCCTCCCCCCTCTCCATCCCCCTCCCCCTCCCCC TTCTCCTCCCCTCCTCCTCCTTCCCGTCTCCCTCCCCATCTCCATCCCCC TCCCCCTCCTCCTCCTCCTCCTCCCCCTCC	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(949): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAG AAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAA GGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAG GGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGG GGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGGGAGGGGG AGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGG AGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGG GGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGA AGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGA AGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGAG GAGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGG GGGAGGGAAGGGAGGGAGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGA GGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGG GGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAG GGAGGGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	272	0.0037	956	c.250 others(971): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCT CCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCT CCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCCTC CCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCC CCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCT CCCATCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCTC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCT TTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCC CACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTT TTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTC CTCCTTCCCCCTCCTTCCCCCTCCTT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MRTFA_chr22_40405289_40641719	40537435	G G	GGGCCAGC others(949): Show GGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAG GGAGGTGGGGGGGTCAGCCCTCCGCCGGGCCAGCCGCCCCGTCTGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGGCCCCCCT GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAG GAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCC GGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGTGCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCACGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCC CCCCCACCCAGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCTGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCC TCCGCCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0133 a0001c0027t0001g0133	1	256	0.0039	956	c.241 others(975): Show c.241+14670_241+14671insGGGCGGAGGGCTGACCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGTGGCTGGCTGGGTGGGGGGGCTGACCCCCCCATCTCC CTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGTGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCA GGCGGGGGACTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCGGGGGGGCTGACCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCA CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCCGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGCGGCTGGCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537435	G G	GGGCCAGC others(949): Show GGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGTCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGG GAGGTGGGGGGGTCAGCCCTCCGCCGGGCCAGCCGCCCCGTCTGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGGCCCCCCTG CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGG AGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCC GGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGTGCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCACGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCC CCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCTGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCC TCCGCCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02976.hp2 HG03130.hp1 others(1): Show HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0091 a0001c0008t0001g0092 a0001c0008t0001g0094 others(1): Show a0001c0008t0001g0091 a0001c0008t0001g0092 a0001c0008t0001g0094 a0001c0008t0001g0134	4	256	0.0156	956	c.241 others(975): Show c.241+14670_241+14671insGGGCGGAGGGCTGACCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCC CTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGTGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCA GGCGGGGGACTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCC ACACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGC TGGCCCGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCCGGGCGGGGACTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGCGGCTGGCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
NOC4L_chr12_132139457_132157468	132149622	C C	CACCACAC others(949): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCACTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCTCACTCACACCACACCCGTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCATACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATC CCCTCGGTGAGTGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCATACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCACTCATACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CACTCCT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0193 a0001c0007t0001g0193	1	294	0.0034	956	c.901 others(971): Show c.901+760_901+761insTCACTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCT CACTCACACCACACCCGTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCC TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCATACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCACTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCATACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACAC CCCTAATCCCCTCGGTGAGTGCCGCC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TGTCTCCT others(949): Show TGTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTGCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCTCTC CTCTCCTCTCCTCCCCTCCCCCCCTCCCCTTCCCCTCCCCTCCCCCTTCC CCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTCCCCCTTCCCCTC CCCTCCCCCTCCCCCTTCCCTCTCCCCTCCCCCTCCCCTCCCCCTTCCCC TCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTT CCCCTCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0272 a0001c0001t0117g0272	1	326	0.0031	956	c.433 others(973): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG GAGGGGAGAGGGAAGGGGGAGGGGGAGGGGAGGGGAAGGGGGAGGGGGAG GGGAGGGGAAGGGGGAGGGGAGGGGAGGGGGAAGGGGGAGGGGAGGGGAA GGGGAGGGGGGGAGGGGAGGAGAGGAGAGGAGAGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGCAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAC	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
PCNT_chr21_46319156_46450769	46404022	G G	GTGTGTGT others(949): Show GTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGG GAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACAC AGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAA TGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCT CGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGC GCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGC CCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGT GTGTGGTGCCCACGCGGCGCGTACTCGGTGAATGAACACAGCGTGGGAGA GGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTG TGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGG AGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCAGTGAATGAACACA GCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAAT GAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGCCCACGTGGCGCGTGC TCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGCCCACGC GGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTAGTGTGTGTGTG GTGCCCACGCGGCGCGTACTCAGTGAATGAACACAGCGTGGGAGAGGTGC CCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGT GTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAAT TGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTG GGAGAAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0038 a0038	a0038c0070 a0038c0070	a0038c0070t0001 a0038c0070t0001	a0038c0070t0001g0115 a0038c0070t0001g0115	1	332	0.0030	956	c.511 others(975): Show c.5115+1547_5115+1548insGTGCCCACGCGGCGCGTGCTCGGTGA ATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGC TCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGG CGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCC CACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTG TGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATT GTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGT GGGAGAATTGTGTGTGTGTGGTGCCCACGCGGCGCGTACTCGGTGAATGA ACACAGCGTGGGAGAGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACAC AGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAA TGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCT CAGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGC GCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGC CCACGTGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGT GTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGA ATTAGTGTGTGTGTGGTGCCCACGCGGCGCGTACTCAGTGAATGAACACA GCGTGGGAGAGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGT GGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAAC ACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTG AATGAACACAGCGTGGGAGAATTGTGTGTG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	27/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46404022	G G	GTGTGTGT others(949): Show GTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGG GAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACAC AGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAA TGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCT CGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGC GCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGC CCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGT GTGTGGTGCCCACGCGGCGCGTACTCGGTGAATGAACACAGCGTGGGAGA GGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTG TGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGG AGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCAGTGAATGAACACA GCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAAT GAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGCCCACGTGGCGCGTGC TCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGCCCACGC GGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTAGTGTGTGTGTG GTGCCCACGCGGCGCGTACTCGGTGAATGAACACAGCGTGGGAGAGGTGC CCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGT GTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAAT TGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTG GGAGAAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0114 a0005c0016t0001g0114	1	332	0.0030	956	c.511 others(975): Show c.5115+1547_5115+1548insGTGCCCACGCGGCGCGTGCTCGGTGA ATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGC TCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGG CGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCC CACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTG TGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATT GTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGT GGGAGAATTGTGTGTGTGTGGTGCCCACGCGGCGCGTACTCGGTGAATGA ACACAGCGTGGGAGAGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACAC AGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAA TGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCT CAGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGC GCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGC CCACGTGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGT GTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGA ATTAGTGTGTGTGTGGTGCCCACGCGGCGCGTACTCGGTGAATGAACACA GCGTGGGAGAGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGT GGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAAC ACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTG AATGAACACAGCGTGGGAGAATTGTGTGTG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	27/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(949): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGGGG AGAGGGGGAGAGAGGGGGAGGGGGAGAGAGGGGGAGAGAAAAGGAGAGGG GGAGAGGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGG AGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGGGG AGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGG GGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGGGAGG GGGAGAGGGGGAGAGGGGGAGGAGGGGGAGGGGGAGGAGGGGGAGAGGGG AGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGG GAAGTGGGAAGGGGCAAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAG AGAGAGGGCGAGTGAGAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAGGTG AGAGAGAGGGCGAGAGAAAGAGAGGGTGGGCAAGAGAGAGAGGGCGAGGG CGAGAGAGAGAGAGGGCGAGAGAGAGAGGGCGGGCGAGAGAGAGGGCAGG CGAGAGAGAGGGCGGGTGAGAGAGAGAGAGGGTGGGCAAGAGAGAGAGAG AGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAG GGCGGGCAAGAGAGAGAGTGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGG CGAGAGGGAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAAGAGGG AGAGAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0131 a0004c0005t0001g0131	1	308	0.0033	956	c.371 others(973): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTTTCTCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTC TCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCC GCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCC TCTCTCTCTCTCACCCGCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGC CCTCTCTCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGC CCACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCAC TCGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTCTCAC CCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCTCTCCCCCTCCTCCCCC TCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCTCTCCCCCTCCTCCCCC TCCCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCCTCCCCCCCTCC TCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCC TCCTCCCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCC CTCTCCCCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTC CCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTCTCCTTTTCTCTCCCCC TCTCTCCCCCTCCCCCTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCC TCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTC TCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCT CTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCC CCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(949): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGGGG AGAGGGGGAGAGAGGGGGAGGGGGAGAGAGGGGGAGAGAAAAGGAGAGGG GGAGAGGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGG AGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGGGG AGAGGGGGAGAGGTGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGG GGAGAGGGGGAGGAGGGGGGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGG GGAGGGGGAGGAGGGGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGA GGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAG AGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAGAGAGAGGGCG AGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAGGGCGAGTGAG AGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAGGGTGGGCAAG AGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGAGAGAGGGCGGG CGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAGAGGGTGGGCA AGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAG AGAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGAGAGGGCGAGAGGGAGAG AGAGGGAGAGGGCGAGAGGGAGAGGGAGAGAAAGAGGGAGAGAAAGAGGG AGAGAAA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0153 a0010c0011t0001g0153	1	308	0.0033	956	c.371 others(973): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCAC TCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTCTCACCC GCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCC TCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTC TCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTC ACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTC CCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCC CCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCC CCTCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCCT CTCCCCCTCCCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCC TCCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCC CTCTCCCCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTC CCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTCTCCTTTTCTCTCCCCC TCTCTCCCCCTCCCCCTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCC TCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTC TCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCT CTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCC CCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(949): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGG GAGAGGGGGAGAGGTGGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGGG GAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGGAGGG GGAGAGGGGGAGGAGGGGGGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGG GGAGGGGGAGGAGGGGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGA GGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAG AGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAGAGAGAGGGCG AGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAGGGCGAGTGAG AGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAGGGTGGGCAAG AGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGAGAGAGGGCGGG CGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAGAGGGTGGGCA AGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAG AGAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGAGAGGGCGAGAGGGAGAG AGAGGGAGAGGGCGAGAGGGAGAGGGAGAGAAAGAGGGAGAGAAAGAGGG AGAGAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	308	0.0033	956	c.371 others(973): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCAC TCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTCTCACCC GCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCC TCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTC TCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTC ACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTC CCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCC CCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCC CCTCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCCT CTCCCCCTCCCCCCCTCCTCCCCCTCTCCCCCTCCCCCCTCCTCCCCCTC TCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCACCTCTCCCCC TCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCCCCTCCCCTTC TCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCCTC TCCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCCCTCTCTCCCCC TCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTC TCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCT CTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCC CCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(949): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGAGAGAGGGGG AGAGGTGGAGGAGGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGG GGAGGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAG GGGGAGGAGGGGGGAGAGGGGGAGGAGGGGGGGGAGGGGGGGAGGGGGAG AGGGGGAGAGGGGGAGAGGGGGAGGGGGAGGAGGGGGAGAGGGGAGGAGG GGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTG GGAAGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAG TGAGAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCG AGAGAAAGAGAGGGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAG AGGGCGAGAGAGAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGG CGGGTGAGAGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAG AGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAG AGAGAGTGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAG GGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAAGAGGG AGAGAAA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0068 a0001c0068	a0001c0068t0001 a0001c0068t0001	a0001c0068t0001g0176 a0001c0068t0001g0176	1	308	0.0033	956	c.371 others(973): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTTTCTCTCCCTCTTTCTCTCCCTCTCCCTCTCGCCCTCTCCC TCTCTCTCCCTCTCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTC TCTTGCCCACCCTCTCTCTCTCTCACCCGCCCTCTCTCTCGCCTGCCCTC TCTCTCGCCCGCCCTCTCTCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCC TCTCTCTCTTGCCCACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCCC TCTCTCTCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTCTCACCCGCCC TCTCTCTCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCTCTCCCCCTCC TCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCTCTCCCCCTCC TCCCCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCCTCCCCC CCCTCCTCCCCCTCTCCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCC TCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCC TCTCCCCCTCTCCCCCCTCCTCCACCTCTCCCCCTCTCTCCCCTCCTCCC CCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCCTC TCCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCCCTCTCTCCCCC TCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTC TCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCT CTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCC CCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar

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