JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DBX2_chr12_45009672_45056099	45025761	T T	TAGAAAGA others(295): Show TAGAAAGATCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0086 a0001c0001t0001g0087	2	416	0.0048	302	c.500 others(319): Show c.500-1868_500-1867insTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCAGATCTTTCT	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3			chr12	TogoVar
DCAF12_chr9_34081387_34131698	34115452	G G	GGCTGGGC others(295): Show GGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGA GGCGGGCGGATCACGTGGTCAGATCGAGACCATCCTGGCTAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGCAGTGGTGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCACACCACTGTATTCCAG CCTGGGCCACAGAATGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00544.hp2 others(78): Show HG00140.hp2 HG00280.hp2 HG00544.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG01993.hp2 HG02280.hp1 HG02300.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp2 HG03540.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18980.hp1 NA18999.hp1 NA19030.hp1 NA19043.hp1 NA19060.hp1 NA19077.hp2 NA19081.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0018 a0003c0005t0004	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(73): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0286 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0300 a0001c0001t0002g0313 a0001c0001t0004g0020 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0238 a0001c0001t0004g0245 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0004g0291 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0305 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0312 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0327 a0001c0001t0011g0033 a0001c0001t0011g0034 a0001c0001t0018g0283 a0003c0005t0004g0301	81	370	0.2189	302	c.334 others(319): Show c.334-7888_334-7887insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ATGGCGTCTCATTCTGTGGCCCAGGCTGGAATACAGTGGTGTGATCTCAG CTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCACCACTGCGCCTGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTC GATCTGACCACGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTA CAGGTGTGAGCCACCGTGCCCAGC	DCAF12	ENSG00000198876.13	transcript	ENST00000361264.9	protein_coding	2/8			chr9	TogoVar
DCAF12_chr9_34081387_34131698	34115452	G G	GGCTGGGC others(295): Show GGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGA GGCGGGCGGATCACGTGGTCAGATCGAGACCATCCTGGCTAACATGGTGA AACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGCAGTGGTGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCACACCACTGTATTCCAG CCTGGGCCACAGAATGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp1 HG01081.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0045 a0001c0001t0001g0046	2	370	0.0054	302	c.334 others(319): Show c.334-7888_334-7887insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ATGGCGTCTCATTCTGTGGCCCAGGCTGGAATACAGTGGTGTGATCTCAG CTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCACCACTGCGCCTGGCTAATTTT TTGTATTTTTAATAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTC GATCTGACCACGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTA CAGGTGTGAGCCACCGTGCCCAGC	DCAF12	ENSG00000198876.13	transcript	ENST00000361264.9	protein_coding	2/8			chr9	TogoVar
DCAF12_chr9_34081387_34131698	34115452	G G	GGCTGGGC others(295): Show GGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGA GGCGGGCGGATCACGTTGTCAGATCGAGACCATCCTGGCTAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGCAGTGGTGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCACACCACTGTATTCCAG CCTGGGCCACAGAATGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0047 a0001c0001t0017g0047	1	370	0.0027	302	c.334 others(319): Show c.334-7888_334-7887insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ATGGCGTCTCATTCTGTGGCCCAGGCTGGAATACAGTGGTGTGATCTCAG CTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCACCACTGCGCCTGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTC GATCTGACAACGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTA CAGGTGTGAGCCACCGTGCCCAGC	DCAF12	ENSG00000198876.13	transcript	ENST00000361264.9	protein_coding	2/8			chr9	TogoVar
DCDC1_chr11_30858603_31374739	31213099	G G	GTCTCTCT others(295): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCCTCTCCCTCCCTCCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCCTCCCTCCCTCCCTCCCTCCC TCCCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCT CTC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	152	0.0066	302	c.122 others(323): Show c.1221+28350_1221+28351insGAGAGAGAGAGAGAGAGAGAGAGA GAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGGAGAGAGAGAGGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAG GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGGAGGGAGGGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGA	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	9/38			chr11	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCC others(295): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCTCC CCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCG CGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCC CGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTC CCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCC TCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCG CCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	302	c.27 others(313): Show c.2765_*2766insAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCG CGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGG CGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGC GGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAG GCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGG AGGCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGGCGCGGCGCGGGGAGG CGGCGCGGGGAGGCGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		795		chr8	TogoVar
DIP2C_chr10_269201_694668	323384	T T	TCGGGGGT others(295): Show TCGGGGGTGCGGGGCTCCAGTGAGAGACCGGCGCTGTTAGAACAGTCAGT CGGGGGTGCGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTC GGGGGTGCGGGGCTCCGGCGAGAGGCCGGCGCTGTTAGAACAGTCAGTCG GGGGTGCGGGGCTCCAGTGAGAGACCGGCGTTGTTAGAACAGTCAGTCGG GGGTGCGGGGCTCCAGTGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGG GGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGG GTG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0019 a0001c0008t0001g0019	1	88	0.0114	302	c.392 others(321): Show c.3924+3621_3924+3622insCACCCCCGACTGACTGTTCTAACAGC GCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCG CCGGTCTCTCACTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACGC CGGTCTCTCACTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCC GGCCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCG GTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGG TCTCTCACTGGAGCCCCGCACCCCCG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	417631	G G	GGTTCGAA others(295): Show GGTTCGAATAGGCCTCCCTGTCCGCCTGTGCCTGTCGGCTCAAATAGGCC TCCCTGTCTGCCTGCGCCTGTCAGAGCTCGGACAGGCCTCCCTGTCCACC TACACCTGTCAGGGCGCGGACAGGCCTCCCTGTCCACCTGTTCCTGTCAG GGCTTCGATAGGCCTCCCTGTCCACCTGCACCTGTCAGGGCGCGGACAGG CCTCCCTGTCCACCTGCACCTGTCAGAGCTCGGACAGGCCTCCCTGTCCA CCTGCACCTGTCAGGGCTCGGATAGGCCTCCCTGTCCACCTGCACCTGTC AGA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	88	0.0114	302	c.739 others(319): Show c.739+1433_739+1434insTCTGACAGGTGCAGGTGGACAGGGAGGC CTATCCGAGCCCTGACAGGTGCAGGTGGACAGGGAGGCCTGTCCGAGCTC TGACAGGTGCAGGTGGACAGGGAGGCCTGTCCGCGCCCTGACAGGTGCAG GTGGACAGGGAGGCCTATCGAAGCCCTGACAGGAACAGGTGGACAGGGAG GCCTGTCCGCGCCCTGACAGGTGTAGGTGGACAGGGAGGCCTGTCCGAGC TCTGACAGGCGCAGGCAGACAGGGAGGCCTATTTGAGCCGACAGGCACAG GCGGACAGGGAGGCCTATTCGAAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DIP2C_chr10_269201_694668	516833	A A	AGGGGGGA others(295): Show AGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGG GACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGACAGGG GGTAGGGTGGGGGGGACACGGGGTAGGGTGGGGGGGGACACGGGGTAGGG TGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGG GGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGACAGG GGGTAGGGTGGGGGGGACAGGGGGTAGGGTGGGGGGGGACGGGGTAGGGT GGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18906.hp1 HG02922.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0005 a0001c0002t0003g0006	2	88	0.0227	302	c.86- others(319): Show c.86-30304_86-30303insCCCACCCTACCCCGTCCCCCCCCACCCT ACCCCCTGTCCCCCCCACCCTACCCCCTGTCCCCCCCACCCTACCCCCTG TCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCCC CCCACCCTACCCCCTGTCCCCCCCACCCTACCCCGTGTCCCCCCCCACCC TACCCCGTGTCCCCCCCACCCTACCCCCTGTCCCCCCCACCCTACCCCCT GTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCC CCCCACCCTACCCCCTGTCCCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	556200	A A	ACCCCTCC others(295): Show ACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCCTCCCAC AGCCGGATCCCAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCCCA GGACAGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCA CCCACCCCTCCCACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAG CCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCAGATCCCAGG ACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACC CAC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	88	0.0114	302	c.86- others(319): Show c.86-69671_86-69670insGTGGGTGGGTGCCGTCCTGGGATCCGGC TGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCTGGCTGTGGGAGGGGT GGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGCTGTCCT CGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTG TGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGG GTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCTGT CCTGGGATCCGGCTGTGGGAGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	965284	A A	ACTGTTCA others(295): Show ACTGTTCACCACACAGGGCTCCTGAGTCTGACCCCTGCGCTGCACACGGC ACTGTTCACCACACAGGGCTCCTGAGTCTGACCCCTGCGCTGTACACGGC ACTGTTCATCACACACGCGGCTCCAGAGCCCGACCCCCGCATGCACACAG CGCTGTTCACCACACAGGGCTCCTGAGTCTGACCCCTGCGCTGCACACGG CACTGTTCACCACACAGGGCTCCTGAGTCTGACCCCTGCGCTGTACACGG CACTGTTCATCACACACGCGGCTCCAGAGCCCGACCCCCGCATGCACACA GCG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	40	0.0250	302	c.73+ others(319): Show c.73+57503_73+57504insTGCGCTGCACACGGCACTGTTCACCACA CAGGGCTCCTGAGTCTGACCCCTGCGCTGTACACGGCACTGTTCATCACA CACGCGGCTCCAGAGCCCGACCCCCGCATGCACACAGCGCTGTTCACCAC ACAGGGCTCCTGAGTCTGACCCCTGCGCTGCACACGGCACTGTTCACCAC ACAGGGCTCCTGAGTCTGACCCCTGCGCTGTACACGGCACTGTTCATCAC ACACGCGGCTCCAGAGCCCGACCCCCGCATGCACACAGCGCTGTTCACCA CACAGGGCTCCTGAGTCTGACCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH10_chr12_123757301_123940714	123911779	G G	GGGGAGTC others(295): Show GGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGG GTCTGTCCTGGGGGCGTCTGTCCTGGGAGGGGTCTGTCCTGGGGGGGTCT GTCCTGGGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTCTGTC CTGGGGGGTTTGTCCTGGGAGGGGTCTGTCCTGGGGGTTCTGTCCTGGGG GGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGGT CTGTCCTGGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGAGGGGTCTGT CCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1	a0031 a0047 a0052 a0031 a0047 a0052	a0031c0040 a0047c0051 a0052c0037 a0031c0040 a0047c0051 a0052c0037	a0031c0040t0001 a0047c0051t0001 a0052c0037t0001 a0031c0040t0001 a0047c0051t0001 a0052c0037t0001	a0031c0040t0001g0017 a0047c0051t0001g0039 a0052c0037t0001g0130 a0031c0040t0001g0017 a0047c0051t0001g0039 a0052c0037t0001g0130	3	170	0.0177	302	c.101 others(323): Show c.10134+1110_10134+1111insAGTCTGTCCTGGGGGGGTCTGTCC TGGGGGGTTTGTCCTGGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGA GGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGGTCTGTCCTGGGGG GGTCTGTCCTGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGAGGGGTCTG TCCTGGGGGTTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTG GGGGGTTTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGG GTTTGTCCTGGGAGGGGTCTGTCCTGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH12_chr3_57288700_57549344	57390450	T T	TACACATA others(295): Show TACACATACATATACATATATACACATACATATACATATATACACATACA TATACATATATACACATACATATATATATACATATATATACATATATATA TACGTATATATATATACGTGTATATATATACACGTATATATATATACGTG TGTATATATACACATATATATATACACATATATATATACACATATATATA TACACATATATATATATACACATATATATATATACACATATATATATACA CACATATATATATATATATATATATATATATATACATATATATATATATA TAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp1 HG00733.hp2 HG01070.hp1	a0008 a0030 a0008 a0030	a0008c0007 a0030c0050 a0008c0007 a0030c0050	a0008c0007t0001 a0030c0050t0001 a0008c0007t0001 a0030c0050t0001	a0008c0007t0001g0236 a0030c0050t0001g0086 a0008c0007t0001g0236 a0030c0050t0001g0086	2	266	0.0075	302	c.730 others(321): Show c.7305+1421_7305+1422insGTATATATATATATATATGTATATAT ATATATATATATATATATATATATGTGTGTATATATATATGTGTATATAT ATATATGTGTATATATATATATGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATACACACGTATATATATATACGTGTAT ATATATACACGTATATATATATACGTATATATATATGTATATATATGTAT ATATATATGTATGTGTATATATGTATATGTATGTGTATATATGTATATGT ATGTGTATATATGTATATGTATGTGT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390450	T T	TACACATA others(295): Show TACACATACATATACATATATACACATACATATACATATATACACATACA TATACATATATACACATACATATATATATACATATATATACATATATATA TACGTATATATATATACGTGTATATATATACACGTATATATATATACGTG TGTATATATACACATATATATATACACATATATATATATACACATATATA TATACACATATATATATATACACATATATATATATACACATATATATATA CACACACATATATATATATATATATATATATATACATATATATATATATA TAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0153 a0010c0015t0001g0153	1	266	0.0038	302	c.730 others(321): Show c.7305+1421_7305+1422insGTATATATATATATATATGTATATAT ATATATATATATATATATATGTGTGTGTATATATATATGTGTATATATAT ATATGTGTATATATATATATGTGTATATATATATGTGTATATATATATAT GTGTATATATATATGTGTATATATACACACGTATATATATATACGTGTAT ATATATACACGTATATATATATACGTATATATATATGTATATATATGTAT ATATATATGTATGTGTATATATGTATATGTATGTGTATATATGTATATGT ATGTGTATATATGTATATGTATGTGT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390450	T T	TACACATA others(295): Show TACACATACATATACATATATACACATACATATACATATATACACATACA TATACATATATACACATACATATATATATACATATATATACATATATATA TACGTATATATATATACGTGTATATATATACACGTATATATATATACGTG TGTATATATACACATATATATATACACATATATATATATACACATATATA TATACACATATATATATATACACATATATATATATACACATATATATATA CACACATATATATATATATATATATATATATATACATATATATATATATA TAC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp2 HG02683.hp1 HG02683.hp2	a0004 a0008 a0004 a0008	a0004c0004 a0008c0007 a0004c0004 a0008c0007	a0004c0004t0001 a0008c0007t0001 a0004c0004t0001 a0008c0007t0001	a0004c0004t0001g0107 a0008c0007t0001g0190 a0004c0004t0001g0107 a0008c0007t0001g0190	2	266	0.0075	302	c.730 others(321): Show c.7305+1421_7305+1422insGTATATATATATATATATGTATATAT ATATATATATATATATATATATGTGTGTATATATATATGTGTATATATAT ATATGTGTATATATATATATGTGTATATATATATGTGTATATATATATAT GTGTATATATATATGTGTATATATACACACGTATATATATATACGTGTAT ATATATACACGTATATATATATACGTATATATATATGTATATATATGTAT ATATATATGTATGTGTATATATGTATATGTATGTGTATATATGTATATGT ATGTGTATATATGTATATGTATGTGT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390450	T T	TACACATA others(295): Show TACACATACATATACATATATACACATACATATACATATATACACATACA TATACATATATACACATACATATATATATACATATATATACATATATATA TACGTATATATATATACGTGTATATATATACACGTATATATATATACGTG TGTATATATACACATATATATATACACATATATATATATATACACATATA TATATACACATATATATATATACACATATATATATATACACATATATATA TACACACATATATATATATATATATATATATATACATATATATATATATA TAC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0068 a0068	a0068c0070 a0068c0070	a0068c0070t0001 a0068c0070t0001	a0068c0070t0001g0096 a0068c0070t0001g0096	1	266	0.0038	302	c.730 others(321): Show c.7305+1421_7305+1422insGTATATATATATATATATGTATATAT ATATATATATATATATATATGTGTGTATATATATATGTGTATATATATAT ATGTGTATATATATATATGTGTATATATATATGTGTATATATATATATAT GTGTATATATATATGTGTATATATACACACGTATATATATATACGTGTAT ATATATACACGTATATATATATACGTATATATATATGTATATATATGTAT ATATATATGTATGTGTATATATGTATATGTATGTGTATATATGTATATGT ATGTGTATATATGTATATGTATGTGT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAI7_chr12_25103289_25200160	25174520	C C	CATATATA others(295): Show CATATATATCATATATATGGGATATATATATATATCATATATATCATATA TATGGGATATATATATATATCATATATATCATATATATGGGATATATATA TATATCATATATATGGGATATATATATCATATATATCATATATATGGGAT ATATATATCATATATATCATATATATCATATATATGGGATATATATATCA TATATATCATATATATCATATATATGGGATATATATATCATATATATCAT ATATATGGGATATATATATCATATATATCATATATATGGGATATATATAT GAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 NA20129.hp1 HG02257.hp2 HG02451.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0240 a0003c0003t0001g0241 a0003c0003t0001g0290 a0003c0003t0001g0240 a0003c0003t0001g0241 a0003c0003t0001g0290	3	336	0.0089	302	c.22- others(319): Show c.22-13324_22-13323insATCATATATATATCCCATATATATGATA TATATGATATATATATCCCATATATATGATATATATGATATATATATCCC ATATATATGATATATATGATATATATGATATATATATCCCATATATATGA TATATATGATATATATGATATATATATCCCATATATATGATATATATGAT ATATATATCCCATATATATGATATATATATATATCCCATATATATGATAT ATATGATATATATATATATCCCATATATATGATATATATGATATATATAT ATATCCCATATATATGATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DOCK5_chr8_25179689_25420711	25315130	A A	AATATAAA others(295): Show AATATAAAAATTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCT CTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00558.hp2 others(66): Show HG00323.hp2 HG00544.hp1 HG00558.hp2 HG00642.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03453.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03927.hp2 HG04184.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18952.hp2 NA18959.hp2 NA18960.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19060.hp1 NA19081.hp1 NA19085.hp2 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0012 a0013 a0014 a0016 a0018	a0001c0001 a0001c0003 a0001c0005 others(20): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0001c0018 a0001c0040 a0001c0041 a0001c0044 a0002c0006 a0002c0007 a0002c0010 a0002c0013 a0002c0017 a0005c0046 a0012c0033 a0013c0043 a0014c0045 a0016c0048 a0018c0054	a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 others(51): Show a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0019 a0001c0003t0026 a0001c0003t0028 a0001c0003t0032 a0001c0003t0064 a0001c0003t0075 a0001c0005t0001 a0001c0005t0002 a0001c0005t0008 a0001c0005t0014 a0001c0005t0023 a0001c0005t0033 a0001c0005t0057 a0001c0005t0061 a0001c0008t0003 a0001c0008t0004 a0001c0008t0017 a0001c0008t0047 a0001c0011t0001 a0001c0011t0008 a0001c0011t0078 a0001c0012t0005 a0001c0012t0006 a0001c0012t0046 a0001c0014t0012 a0001c0015t0012 a0001c0015t0050 a0001c0018t0001 a0001c0018t0054 a0001c0040t0029 a0001c0041t0001 a0001c0044t0026 a0002c0006t0002 a0002c0007t0077 a0002c0010t0006 a0002c0010t0072 a0002c0013t0006 a0002c0017t0002 a0002c0017t0014 a0002c0017t0024 a0005c0046t0003 a0012c0033t0003 a0013c0043t0010 a0014c0045t0001 a0016c0048t0007 a0018c0054t0001	a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0007g0078 others(66): Show a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0007g0078 a0001c0003t0001g0104 a0001c0003t0003g0123 a0001c0003t0004g0048 a0001c0003t0004g0121 a0001c0003t0004g0124 a0001c0003t0005g0040 a0001c0003t0005g0068 a0001c0003t0005g0145 a0001c0003t0006g0060 a0001c0003t0006g0108 a0001c0003t0007g0103 a0001c0003t0019g0140 a0001c0003t0026g0020 a0001c0003t0028g0127 a0001c0003t0032g0088 a0001c0003t0064g0161 a0001c0003t0075g0071 a0001c0005t0001g0022 a0001c0005t0001g0080 a0001c0005t0001g0119 a0001c0005t0001g0157 a0001c0005t0002g0066 a0001c0005t0002g0100 a0001c0005t0008g0122 a0001c0005t0014g0086 a0001c0005t0023g0171 a0001c0005t0033g0098 a0001c0005t0033g0128 a0001c0005t0057g0011 a0001c0005t0061g0111 a0001c0008t0003g0052 a0001c0008t0003g0082 a0001c0008t0003g0130 a0001c0008t0004g0038 a0001c0008t0017g0118 a0001c0008t0047g0195 a0001c0011t0001g0017 a0001c0011t0008g0075 a0001c0011t0078g0083 a0001c0012t0005g0148 a0001c0012t0006g0134 a0001c0012t0046g0006 a0001c0014t0012g0181 a0001c0015t0012g0178 a0001c0015t0050g0177 a0001c0018t0001g0149 a0001c0018t0054g0196 a0001c0040t0029g0061 a0001c0041t0001g0097 a0001c0044t0026g0045 a0002c0006t0002g0072 a0002c0006t0002g0096 a0002c0006t0002g0115 a0002c0007t0077g0057 a0002c0010t0006g0084 a0002c0010t0072g0112 a0002c0013t0006g0133 a0002c0017t0002g0141 a0002c0017t0014g0047 a0002c0017t0024g0132 a0005c0046t0003g0034 a0012c0033t0003g0162 a0013c0043t0010g0200 a0014c0045t0001g0055 a0016c0048t0007g0027 a0018c0054t0001g0159	69	210	0.3286	302	c.131 others(321): Show c.1319-1873_1319-1872insAAAAATTCTTTTTTTTTTTTTTTTTT TTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCATAT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	13/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPEP1_chr16_89608642_89643433	89619002	C C	CCCCCCTG others(295): Show CCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCTGCTCCCCTCCC TGCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCG CTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCC CTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCC CTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCC GCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCC ATG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0052 a0002c0002t0003g0052	1	250	0.0040	302	c.-10 others(321): Show c.-107+5288_-107+5289insTGCTCCCCTCCCTGCAGCCCCCCTGC CCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCT GCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCTCCATGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619306	C C	CCCCCCCT others(295): Show CCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTG CTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCC CTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCC GCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCC ATG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01943.hp2 HG01168.hp1 HG01943.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0007t0001 a0002c0002t0001 a0002c0007t0001	a0002c0002t0001g0144 a0002c0007t0001g0145 a0002c0002t0001g0144 a0002c0007t0001g0145	2	250	0.0080	302	c.-10 others(321): Show c.-107+5593_-107+5594insTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCAT GCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCT CCCCTCCCTGCAGCTCCATGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619434	T T	TGCTCCCC others(295): Show TGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCC CCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCC CTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCC CCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGC CCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCC CTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCC CCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02155.hp1 HG04199.hp1 HG00408.hp1 HG02155.hp1 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0187 a0001c0001t0001g0188 a0002c0002t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0002c0002t0001g0184	3	250	0.0120	302	c.-10 others(321): Show c.-107+5744_-107+5745insCTGCTCCCCTCCCTGCAGCCCCCCTG CCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGC TCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634658	C C	CCCCTTCC others(295): Show CCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCC TTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0184 a0002c0002t0001g0184	1	250	0.0040	302	c.105 others(319): Show c.105-1232_105-1231insTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCCCTTTCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPH1_chr17_2025153_2048898	2035402	C C	CGGTGGGG others(295): Show CGGTGGGGAGGTAGCGGGGGTCCAGGCGAGGGGGCCCTGCCTGTGGTGGG GAGGGGGTGGGGGCCCTGCCTATGGTGGGGAGGTAGTGGGGGTCCGGACG AGAGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCAGGCGAGGGGGC CCTGCCTGTGGTGGGGAGGGGGTGGGGGCCCTGCCTATGGTGGGGAGGTA GTGGGGGTCCGGACGAGAGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGG TCCAGGCGAGGGGGCCCTGCCTGTGGTGGGGAGGGGGTGGGGGCCCTGCC TAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	392	0.0026	302	c.279 others(317): Show c.279-555_279-554insCGGGGGTCCAGGCGAGGGGGCCCTGCCTGT GGTGGGGAGGGGGTGGGGGCCCTGCCTATGGTGGGGAGGTAGTGGGGGTC CGGACGAGAGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCAGGCGA GGGGGCCCTGCCTGTGGTGGGGAGGGGGTGGGGGCCCTGCCTATGGTGGG GAGGTAGTGGGGGTCCGGACGAGAGGGCCCTGCCTGTGGTGGGGAGGTAG TGGGGGTCCAGGCGAGGGGGCCCTGCCTGTGGTGGGGAGGGGGTGGGGGC CCTGCCTATGGTGGGGAGGTAG	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DYM_chr18_49031387_49465645	49440994	A A	ATTTATAT others(295): Show ATTTATATAATATATGACTATATATTATATATTTATATAATATATGACTA TATATTATATATTTATATAATATATGACTATATATTATATATTTATATAA TATATGACTATATATTATATATTTATATAATATATGACTATATATTATAT ATTTATATAATATATGACTATATATTATATATTTATATAATATATGACTA TATATTATATATTTATATAATATATTTATATAAATACATTATATTTTATA TATTTATATAAATACATTATATTTTATATATTTATATAAATACATTATAT TTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	290	0.0035	302	c.-53 others(321): Show c.-53-10548_-53-10547insAAAATATAATGTATTTATATAAATAT ATAAAATATAATGTATTTATATAAATATATAAAATATAATGTATTTATAT AAATATATTATATAAATATATAATATATAGTCATATATTATATAAATATA TAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATTA TATAAATATATAATATATAGTCATATATTATATAAATATATAATATATAG TCATATATTATATAAATATATAATATATAGTCATATATTATATAAATATA TAATATATAGTCATATATTATATAAA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EHMT1_chr9_137614005_137841127	137819285	G G	GTGTACCG others(295): Show GTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC CGTAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGA CTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCC ATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCC GACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCG CCA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	170	0.0059	302	c.354 others(321): Show c.3540+1203_3540+1204insGCCGATTGAGGGGCGCCGTGTACCGA GACTGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAG GCCGACTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGG GCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACC GAGACTGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTGTAGAG AGGCCGATTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAG GGGCGCCGTGTACCGAGACCGTAGAG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
ELOVL5_chr6_53262404_53353950	53302665	T T	TAAGAATT others(295): Show TAAGAATTATATTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01071.hp2 others(8): Show HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01361.hp2 HG02293.hp1 NA18987.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 others(8): Show a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0195	11	320	0.0344	302	c.-8- others(317): Show c.-8-6959_-8-6958insTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGTCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TTTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAAATATAATTCTT	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(295): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGACACCCGCCACCACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	428	0.0023	302	c.83+ others(315): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGACACCCGCCACCACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGCATTTAAAGTTTT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(295): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03486.hp1 HG02451.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0091 a0001c0001t0001g0071 a0001c0001t0001g0091	2	428	0.0047	302	c.83+ others(315): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGCATTTAAAGTTTT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
EPS8L2_chr11_701231_732727	711773	T T	TAGGAGTT others(295): Show TAGGAGTTCGAGACCAGCCTGACCAACATGGCAAAACCTCATGTCTACTG AAAATACAAAATTAGCCAGGCGTCGTGGTGCATACCTATAATCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATCACTGGAACCCAGGAGGCGGAGGTTG CAGTGAGCCGAGATCACACCACTGCACTCCAGCATGGGCAACAGAGCGAG ACTCCATCTCAAAAAAGAGAAAAAAAAAAGGGACCAGGCGCGGTTGTTCA TACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAC GTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(59): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00639.hp2 HG00741.hp1 HG01099.hp1 HG01106.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01258.hp2 HG01358.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02055.hp2 HG02145.hp2 HG02293.hp1 HG02451.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02735.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03831.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18951.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18969.hp1 NA18998.hp1 NA19054.hp2 NA19066.hp1 NA19067.hp2 NA19085.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0002 a0001c0003 a0001c0006 others(4): Show a0001c0002 a0001c0003 a0001c0006 a0002c0012 a0003c0008 a0003c0011 a0007c0016	a0001c0002t0001 a0001c0002t0010 a0001c0002t0013 others(9): Show a0001c0002t0001 a0001c0002t0010 a0001c0002t0013 a0001c0002t0019 a0001c0003t0001 a0001c0003t0006 a0001c0003t0013 a0001c0006t0008 a0002c0012t0008 a0003c0008t0001 a0003c0011t0001 a0007c0016t0001	a0001c0002t0001g0008 a0001c0002t0001g0022 a0001c0002t0001g0146 others(54): Show a0001c0002t0001g0008 a0001c0002t0001g0022 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0155 a0001c0002t0001g0166 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0303 a0001c0002t0001g0308 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0317 a0001c0002t0001g0319 a0001c0002t0001g0324 a0001c0002t0001g0326 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0331 a0001c0002t0001g0347 a0001c0002t0001g0352 a0001c0002t0001g0360 a0001c0002t0001g0361 a0001c0002t0001g0364 a0001c0002t0010g0030 a0001c0002t0010g0142 a0001c0002t0010g0304 a0001c0002t0010g0309 a0001c0002t0010g0310 a0001c0002t0010g0321 a0001c0002t0010g0322 a0001c0002t0010g0327 a0001c0002t0013g0316 a0001c0002t0019g0318 a0001c0003t0001g0028 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0167 a0001c0003t0001g0275 a0001c0003t0001g0302 a0001c0003t0001g0305 a0001c0003t0001g0323 a0001c0003t0001g0330 a0001c0003t0006g0301 a0001c0003t0006g0307 a0001c0003t0006g0311 a0001c0003t0006g0320 a0001c0003t0013g0348 a0001c0006t0008g0312 a0002c0012t0008g0358 a0003c0008t0001g0306 a0003c0011t0001g0151 a0003c0011t0001g0152 a0007c0016t0001g0325	62	406	0.1527	302	c.165 others(319): Show c.165+1294_165+1295insCGAGACCAGCCTGACCAACATGGCAAAA CCTCATGTCTACTGAAAATACAAAATTAGCCAGGCGTCGTGGTGCATACC TATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTGGAACCCA GGAGGCGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCATG GGCAACAGAGCGAGACTCCATCTCAAAAAAGAGAAAAAAAAAAGGGACCA GGCGCGGTTGTTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGG GTGGATCACCTGACGTCAGGAGTT	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
EPS8L2_chr11_701231_732727	711843	C C	CGTCGTGG others(295): Show CGTCGTGGTGCATACCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATCACTGGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCACACC ACTGCACTCCAGCATGGGCAACAGAGCGAGACTCCATCTCAAAAAAGAGA AAAAAAAAAGGGACCAGGCGCGGTTGTTCATACCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACCTGACGTCAGGAGTTCGAGACCAGC CTGACCAACATGGCAAAACCTCATGTCTACTGAAAATACAAAATTAGCCA GGT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	406	0.0025	302	c.165 others(319): Show c.165+1619_165+1620insCAAAACCTCATGTCTACTGAAAATACAA AATTAGCCAGGTGTCGTGGTGCATACCTATAATCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATCACTGGAACCCAGGAGGCGGAGGTTGCAGTGAGCC GAGATCACACCACTGCACTCCAGCATGGGCAACAGAGCGAGACTCCATCT CAAAAAAGAGAAAAAAAAAAGGGACCAGGCGCGGTTGTTCATACCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGACGTCAGGAGT TCGAGACCAGCCTGACCAACATGG	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
EPS8L2_chr11_701231_732727	711844	G G	GTCGTGGT others(295): Show GTCGTGGTGCATACCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATCACTGGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCACACCA CTGCACTCCAGCATGGGCAACAGAGCGAGACTCCATCTCAAAAAAGAGAA AAAAAAAAGGGACCAGGCGCGGTTGTTCATACCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCACCTGACGTCAGGAGTTCGAGACCAGCC TGACCAACATGGCAAAACCTCATGTCTACTGAAAATACAAAATTAGCCAG GCA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0334 a0001c0003t0001g0334	1	406	0.0025	302	c.165 others(319): Show c.165+1619_165+1620insCAAAACCTCATGTCTACTGAAAATACAA AATTAGCCAGGCATCGTGGTGCATACCTATAATCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATCACTGGAACCCAGGAGGCGGAGGTTGCAGTGAGCC GAGATCACACCACTGCACTCCAGCATGGGCAACAGAGCGAGACTCCATCT CAAAAAAGAGAAAAAAAAAAGGGACCAGGCGCGGTTGTTCATACCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGACGTCAGGAGT TCGAGACCAGCCTGACCAACATGG	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
ERICH1_chr8_659200_736224	676301	C C	CCCCCTCG others(295): Show CCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCG CGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAG AGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGG ACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGT GAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGCCCC CTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGG CGG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0305 a0001c0003t0002g0305	1	378	0.0027	302	c.305 others(319): Show c.305-2255_305-2254insCCGCCGCGTCTCTGTCCTCGCCGAGGGG GCGCCGCGTCTCTGTCCTCGCCGAGGGGGCGCCGCGTCTCTGTCCTCGCC GAGGGGCCGCCGCGTCTCTGTCCTCACGAGGGGCCGCCGCGTCTCTGTCC TCACGAGGGGCCGCCGCGTCTCTGTCCTCACGAGGGGCCGCCGCGCCTCT GTCCTCACGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGGCGCCGCG TCTCTGTCCTCACGAGGGGCCGCCGCGCCTCTGTCCTCACGAGGGGCCGC CGCGTCTCTGTCCTCGCCGAGGGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
FAM13A_chr4_88720960_89062185	88837415	T T	TAAGAATA others(295): Show TAAGAATATAGTCAGCCCTTGGGAGGCCGAGGCGGGTGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTT GCAGTGAGCCGAGATTGCGCCATTGCAGTCCGCAGTCCGGCCTGGGCAAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03041.hp2 HG02897.hp2 HG03041.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0008 a0002c0007t0010 a0002c0007t0008 a0002c0007t0010	a0002c0007t0008g0011 a0002c0007t0010g0009 a0002c0007t0008g0011 a0002c0007t0010g0009	2	208	0.0096	302	c.100 others(323): Show c.1007+13604_1007+13605insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGG ACTGCAATGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCTGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCT CGGCCTCCCAAGGGCTGACTATATTCTT	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding	7/23			chr4	TogoVar
FARP1_chr13_98138094_98460176	98198909	C C	CCTGCTCC others(295): Show CCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCTTCCCTGCTCCGCTCCC CCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGC TCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTTCCCCCCCGCCCCTCCCC GCTCCCCCACTCTGCCCCTCCCCGCCCCCCTGCCCCTCCCCGCTTCCCCC TCTGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTTCCCCCTCTGCC CCTCCCCGCTCCCGCTGCTCCCTCCCCCTCCATCCCTTCCCCCTCCCCCT CCA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0075 a0001c0001t0070g0075	1	218	0.0046	302	c.-23 others(321): Show c.-23-14310_-23-14309insTGCTCCGCTCCCCCTCCCTGCTCCGC TCCCCTTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCT CCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCC TGCTTCCCCCCCGCCCCTCCCCGCTCCCCCACTCTGCCCCTCCCCGCCCC CCTGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTTCCCCCTCTGCC CCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTCCCGCTGCTCCCTCCCCC TCCATCCCTTCCCCCTCCCCCTCCAC	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98198909	C C	CCTGCTCC others(295): Show CCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCTTCCCTGCTCCGCTCCC CCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGC TCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTTCCCCCCCGCCCCTCCCC GCTCCCCCACTCTGCCCCTCCCCGCCCCCCTGCCCCTCCCCGCTTCCCCC TCTGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTTCCCCTTCTGCC CCTCCCCGCTCCCGCTGCTCCCTCCCCCTCCATCCCTTCCCCCTCCCCCT CCA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00558.hp1 others(53): Show HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00673.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01993.hp1 HG02074.hp2 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02735.hp2 HG03195.hp1 HG03225.hp2 HG03579.hp1 HG03834.hp2 NA18612.hp1 NA18957.hp1 NA18957.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp2 NA18992.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19082.hp1 NA19082.hp2 NA19090.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0002c0014 a0002c0015 a0007c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(34): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0047 a0001c0001t0056 a0001c0001t0058 a0001c0001t0065 a0001c0001t0080 a0001c0001t0083 a0001c0001t0085 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0010 a0001c0002t0017 a0001c0002t0027 a0001c0002t0059 a0001c0002t0071 a0001c0002t0072 a0001c0002t0076 a0001c0002t0081 a0001c0002t0082 a0001c0006t0001 a0001c0006t0002 a0001c0007t0061 a0002c0014t0008 a0002c0015t0036 a0007c0009t0025	a0001c0001t0002g0035 a0001c0001t0002g0045 a0001c0001t0002g0054 others(53): Show a0001c0001t0002g0035 a0001c0001t0002g0045 a0001c0001t0002g0054 a0001c0001t0002g0101 a0001c0001t0002g0109 a0001c0001t0004g0198 a0001c0001t0005g0031 a0001c0001t0005g0056 a0001c0001t0005g0078 a0001c0001t0005g0164 a0001c0001t0007g0136 a0001c0001t0007g0177 a0001c0001t0014g0076 a0001c0001t0014g0093 a0001c0001t0014g0116 a0001c0001t0016g0153 a0001c0001t0018g0166 a0001c0001t0019g0189 a0001c0001t0021g0187 a0001c0001t0025g0030 a0001c0001t0026g0148 a0001c0001t0026g0158 a0001c0001t0047g0139 a0001c0001t0056g0074 a0001c0001t0058g0070 a0001c0001t0065g0006 a0001c0001t0080g0098 a0001c0001t0083g0169 a0001c0001t0085g0023 a0001c0002t0001g0033 a0001c0002t0001g0048 a0001c0002t0001g0063 a0001c0002t0001g0079 a0001c0002t0001g0083 a0001c0002t0002g0065 a0001c0002t0003g0020 a0001c0002t0003g0126 a0001c0002t0003g0140 a0001c0002t0003g0190 a0001c0002t0006g0114 a0001c0002t0010g0211 a0001c0002t0017g0081 a0001c0002t0027g0144 a0001c0002t0027g0163 a0001c0002t0059g0072 a0001c0002t0071g0094 a0001c0002t0072g0157 a0001c0002t0076g0037 a0001c0002t0081g0105 a0001c0002t0082g0104 a0001c0006t0001g0090 a0001c0006t0002g0100 a0001c0007t0061g0068 a0002c0014t0008g0088 a0002c0015t0036g0127 a0007c0009t0025g0085	56	218	0.2569	302	c.-23 others(321): Show c.-23-14310_-23-14309insTGCTCCGCTCCCCCTCCCTGCTCCGC TCCCCTTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCT CCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCC TGCTTCCCCCCCGCCCCTCCCCGCTCCCCCACTCTGCCCCTCCCCGCCCC CCTGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTTCCCCCTCTGCC CCTCCCCGCTTCCCCTTCTGCCCCTCCCCGCTCCCGCTGCTCCCTCCCCC TCCATCCCTTCCCCCTCCCCCTCCAC	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98198909	C C	CCTGCTCC others(295): Show CCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCTTCCCTGCTCCTCTCCC CCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGC TCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTTCCCCCCCGCCCCTCCCC GCTCCCCCACTCTGCCCCTCCCCGCCCCCCTGCCCCTCCCCGCTTCCCCC TCTGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTTCCCCTTCTGCC CCTCCCCGCTCCCGCTGCTCCCTCCCCCTCCATCCCTTCCCCCTCCCCCT CCA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	218	0.0046	302	c.-23 others(321): Show c.-23-14310_-23-14309insTGCTCCGCTCCCCCTCCCTGCTCCGC TCCCCTTCCCTGCTCCTCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCT CCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCC TGCTTCCCCCCCGCCCCTCCCCGCTCCCCCACTCTGCCCCTCCCCGCCCC CCTGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTTCCCCCTCTGCC CCTCCCCGCTTCCCCTTCTGCCCCTCCCCGCTCCCGCTGCTCCCTCCCCC TCCATCCCTTCCCCCTCCCCCTCCAC	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FCHO2_chr5_72951041_73095522	73037315	C C	CAAAAGTA others(295): Show CAAAAGTATATGTGTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG TGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGT CCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03225.hp2 HG03516.hp1 others(2): Show HG03139.hp2 HG03225.hp2 HG03516.hp1 NA18965.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0003 a0001c0003t0008 a0001c0004t0003 a0001c0003t0003 a0001c0003t0008 a0001c0004t0003	a0001c0003t0003g0277 a0001c0003t0003g0278 a0001c0003t0008g0111 others(2): Show a0001c0003t0003g0277 a0001c0003t0003g0278 a0001c0003t0008g0111 a0001c0003t0008g0112 a0001c0004t0003g0249	5	286	0.0175	302	c.914 others(317): Show c.914+114_914+115insCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAGTATATGTGT	FCHO2	ENSG00000157107.14	transcript	ENST00000430046.7	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
FLT3_chr13_27998274_28105576	27998978	A A	AATCTATA others(295): Show AATCTATATATACGTATATATATATATATACATATATATATGTATACATA TAATATATATGTATATACATATAAATATATTATATATAGTATATACATAT TTAGTATACATATAAATATATATTATACATATAAATATATATGTATATAC ATATAAATATATATGTATATACATATAAATATATATGTATATACATATAA ATATATATGTATGTATATTATATACATATAAATATATATATTTATATACA TATAAATATATATATTTATATACATATAAATATATATTTATATACATATA AAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0022 a0002c0002t0002g0022	1	292	0.0034	302	c.50 others(313): Show c.5073_*5074insATTTATATGTATATAAATATATATTTATATGTAT ATAAATATATATATTTATATGTATATAAATATATATATTTATATGTATAT AATATACATACATATATATTTATATGTATATACATATATATTTATATGTA TATACATATATATTTATATGTATATACATATATATTTATATGTATAATAT ATATTTATATGTATACTAAATATGTATATACTATATATAATATATTTATA TGTATATACATATATATTATATGTATACATATATATATGTATATATATAT ATATACGTATATATAGAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4295		chr13	TogoVar
FOXP1_chr3_70949708_71588728	71435381	A A	AGGGAGGG others(295): Show AGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAG GGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGG AGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGAGGGAGGAAGG GACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGA GGGAGGAAGGGAGGGAGGGAGGGAGGGACGGAGGGAGGGCGGGAGGGACG GAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGA GGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0056 a0001c0001t0004g0056	1	96	0.0104	302	c.-16 others(323): Show c.-168+58044_-168+58045insCCCTCCCTCCCTCCGTCCCTTCTT CCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTCCCGCCCTCCCTCC GTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCTCCGTCCC TTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTC CCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCC TCCCTCCCTCCCTCCGTCCCTCCCTCCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GABRA2_chr4_46238548_46395128	46378045	C C	CCCCCCAC others(295): Show CCCCCCACCCGGCCAGCCGCCCCATCAGGGAGGTGAGGGGCACCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCTAGCCGCCCC ATCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCGCCATCCAGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTT CAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18906.hp2 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0137 a0001c0001t0028 a0001c0001t0137	a0001c0001t0028g0134 a0001c0001t0137g0154 a0001c0001t0028g0134 a0001c0001t0137g0154	2	258	0.0078	302	c.187 others(319): Show c.187+8028_187+8029insCTGAACCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGGC GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCTGGATGGGGCGGCTAGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCTG ATGGGGCGGCTGGCCGGGTGGGGG	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46378045	C C	CCCCCCAC others(295): Show CCCCCCACCCGGCCAGCCGCCCCATCAGGGAGGTGAGGGGCACCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCTAGCCGCCCC GTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCGCCATCCAGGAGGGAGGTGGGGGGG TCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTT CAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0132 a0001c0001t0132	a0001c0001t0132g0149 a0001c0001t0132g0149	1	258	0.0039	302	c.187 others(319): Show c.187+8028_187+8029insCTGAACCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGGC GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTAGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCTG ATGGGGCGGCTGGCCGGGTGGGGG	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46378045	C C	CCCCCCAC others(295): Show CCCCCCACCCGGCCAGCCGCCCCATCAGGGAGGTGAGGGGCACCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCTAGCCGCCCC GTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCGCCATCCAGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTT CAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(43): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG01074.hp2 HG01167.hp2 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01943.hp1 HG02083.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02572.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp2 HG02897.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03831.hp2 NA18522.hp2 NA18944.hp1 NA18971.hp2 NA18991.hp1 NA19030.hp2 NA19043.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0010 a0001c0001t0048 a0001c0001t0051 others(38): Show a0001c0001t0010 a0001c0001t0048 a0001c0001t0051 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0061 a0001c0001t0066 a0001c0001t0116 a0001c0001t0123 a0001c0001t0128 a0001c0001t0148 a0001c0002t0005 a0001c0002t0006 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0041 a0001c0002t0042 a0001c0002t0046 a0001c0002t0052 a0001c0002t0053 a0001c0002t0057 a0001c0002t0058 a0001c0002t0059 a0001c0002t0060 a0001c0002t0062 a0001c0002t0063 a0001c0002t0064 a0001c0002t0069 a0001c0002t0070 a0001c0002t0071 a0001c0002t0072 a0001c0002t0073 a0001c0002t0086 a0001c0002t0094 a0001c0002t0101 a0001c0002t0105 a0001c0002t0120 a0001c0002t0124 a0002c0003t0050	a0001c0001t0010g0109 a0001c0001t0048g0009 a0001c0001t0051g0016 others(43): Show a0001c0001t0010g0109 a0001c0001t0048g0009 a0001c0001t0051g0016 a0001c0001t0054g0026 a0001c0001t0055g0027 a0001c0001t0056g0030 a0001c0001t0061g0034 a0001c0001t0066g0040 a0001c0001t0116g0117 a0001c0001t0123g0136 a0001c0001t0128g0140 a0001c0001t0148g0165 a0001c0002t0005g0010 a0001c0002t0006g0024 a0001c0002t0006g0025 a0001c0002t0006g0028 a0001c0002t0015g0014 a0001c0002t0015g0015 a0001c0002t0016g0017 a0001c0002t0016g0020 a0001c0002t0017g0022 a0001c0002t0017g0023 a0001c0002t0041g0002 a0001c0002t0042g0003 a0001c0002t0046g0007 a0001c0002t0052g0019 a0001c0002t0053g0021 a0001c0002t0057g0029 a0001c0002t0058g0031 a0001c0002t0059g0033 a0001c0002t0060g0032 a0001c0002t0062g0035 a0001c0002t0063g0036 a0001c0002t0064g0037 a0001c0002t0069g0042 a0001c0002t0070g0043 a0001c0002t0071g0045 a0001c0002t0072g0044 a0001c0002t0073g0046 a0001c0002t0086g0057 a0001c0002t0094g0070 a0001c0002t0101g0083 a0001c0002t0105g0099 a0001c0002t0120g0126 a0001c0002t0124g0135 a0002c0003t0050g0018	46	258	0.1783	302	c.187 others(319): Show c.187+8028_187+8029insCTGAACCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGGC GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTAGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCTG ATGGGGCGGCTGGCCGGGTGGGGG	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46378045	C C	CCCCCCAC others(295): Show CCCCCCACCCGGCCAGCCGCCCCATCAGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCTAGCCGCCCC GTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCGCCATCCAGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGTT CAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0062 a0001c0001t0085g0062	1	258	0.0039	302	c.187 others(319): Show c.187+8028_187+8029insCTGAACCCCCCACCTCCCTCCTGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGGC GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTAGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCTG ATGGGGCGGCTGGCCGGGTGGGGG	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46378045	C C	CCCCCCAC others(295): Show CCCCCCACCCGGCCAGCCGCCCCATCAGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCTAGCCGCCCC GTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCGCCATCCAGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTT CAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(75): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00673.hp2 HG01071.hp1 HG01109.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01891.hp1 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02451.hp1 HG02486.hp1 HG02717.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03195.hp2 HG03209.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18963.hp1 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18984.hp1 NA18990.hp1 NA18992.hp1 NA18999.hp1 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19059.hp1 NA19059.hp2 NA19064.hp2 NA19070.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0020 a0001c0001t0027 others(54): Show a0001c0001t0001 a0001c0001t0020 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0001t0037 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0049 a0001c0001t0092 a0001c0001t0100 a0001c0001t0104 a0001c0001t0114 a0001c0001t0150 a0001c0001t0152 a0001c0001t0153 a0001c0001t0165 a0001c0001t0170 a0001c0001t0171 a0001c0001t0172 a0001c0001t0174 a0001c0001t0178 a0001c0001t0179 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0032 a0001c0002t0036 a0001c0002t0038 a0001c0002t0039 a0001c0002t0040 a0001c0002t0067 a0001c0002t0161 a0001c0002t0162 a0001c0002t0163 a0001c0002t0166 a0001c0002t0167 a0001c0002t0168 a0001c0002t0180 a0001c0002t0181 a0001c0002t0182 a0001c0002t0183 a0001c0002t0185 a0001c0002t0186 a0001c0002t0190 a0001c0002t0191 a0001c0002t0193 a0001c0002t0197 a0001c0002t0198	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0020g0064 others(74): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0020g0064 a0001c0001t0020g0065 a0001c0001t0027g0129 a0001c0001t0030g0001 a0001c0001t0031g0162 a0001c0001t0031g0163 a0001c0001t0032g0174 a0001c0001t0035g0193 a0001c0001t0037g0203 a0001c0001t0043g0005 a0001c0001t0044g0004 a0001c0001t0045g0006 a0001c0001t0047g0008 a0001c0001t0049g0011 a0001c0001t0092g0074 a0001c0001t0100g0084 a0001c0001t0104g0100 a0001c0001t0114g0118 a0001c0001t0150g0171 a0001c0001t0152g0172 a0001c0001t0153g0169 a0001c0001t0165g0199 a0001c0001t0170g0218 a0001c0001t0171g0209 a0001c0001t0172g0208 a0001c0001t0174g0226 a0001c0001t0178g0227 a0001c0001t0179g0230 a0001c0002t0003g0214 a0001c0002t0003g0215 a0001c0002t0003g0216 a0001c0002t0003g0217 a0001c0002t0004g0237 a0001c0002t0004g0241 a0001c0002t0004g0242 a0001c0002t0004g0243 a0001c0002t0005g0012 a0001c0002t0011g0185 a0001c0002t0011g0186 a0001c0002t0012g0201 a0001c0002t0012g0204 a0001c0002t0012g0205 a0001c0002t0013g0211 a0001c0002t0013g0212 a0001c0002t0013g0213 a0001c0002t0014g0223 a0001c0002t0014g0228 a0001c0002t0014g0229 a0001c0002t0032g0173 a0001c0002t0036g0196 a0001c0002t0036g0198 a0001c0002t0038g0206 a0001c0002t0038g0207 a0001c0002t0039g0224 a0001c0002t0039g0225 a0001c0002t0040g0234 a0001c0002t0040g0235 a0001c0002t0067g0041 a0001c0002t0161g0192 a0001c0002t0162g0191 a0001c0002t0163g0189 a0001c0002t0166g0195 a0001c0002t0167g0197 a0001c0002t0168g0202 a0001c0002t0180g0231 a0001c0002t0181g0233 a0001c0002t0182g0232 a0001c0002t0183g0236 a0001c0002t0185g0239 a0001c0002t0186g0238 a0001c0002t0190g0248 a0001c0002t0191g0247 a0001c0002t0193g0250 a0001c0002t0197g0254 a0001c0002t0198g0255	78	258	0.3023	302	c.187 others(319): Show c.187+8028_187+8029insCTGAACCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGGC GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTAGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCTG ATGGGGCGGCTGGCCGGGTGGGGG	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GABRA3_chrX_152161234_152456315	152182564	T T	TATACACT others(295): Show TATACACTATATATAGTGTATATATACACTATATATATATATACTATATA TATGCATATATAGTATATATACACTATATATACACTATATATACATATAG TGTATATAGTATATATACACTATATATACACTATATATGTATAGTATATA TACACTATATATAGTATATATACACTATATATAGTATATATACACTATAT ATATAGTATATATACACTATATATAGTATATATACACTATATATATAGTA TATATACACTATATATATAGTATATATACACTATATATATAGTGTATATA TAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0069 a0001c0001t0006g0069	1	204	0.0049	302	c.114 others(321): Show c.1143+7165_1143+7166insGTATATATACACTATATATATAGTGT ATATATACTATATATATAGTGTATATATACTATATATATAGTGTATATAT ACTATATATAGTGTATATATACTATATATATAGTGTATATATACTATATA TAGTGTATATATACTATATATAGTGTATATATACTATACATATATAGTGT ATATATAGTGTATATATACTATATACACTATATGTATATATAGTGTATAT ATAGTGTATATATACTATATATGCATATATATAGTATATATATATATAGT GTATATATACACTATATATAGTGTAT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GDA_chr9_72144440_72257224	72227499	A A	AAGGGACT others(295): Show AAGGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02922.hp2 HG03098.hp1 HG02109.hp1 HG02922.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0104 a0001c0001t0011g0105 a0001c0001t0011g0106 a0001c0001t0011g0104 a0001c0001t0011g0105 a0001c0001t0011g0106	3	312	0.0096	302	c.823 others(317): Show c.823-434_823-433insTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCAGGGACTTTT	GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
GDF2_chr10_47317454_47332588	47319409	T T	TAAATTTT others(295): Show TAAATTTTATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp2 NA18947.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0001 a0001c0001t0010g0001 a0001c0001t0002g0001 a0001c0001t0010g0001	2	424	0.0047	302	c.-32 others(313): Show c.-3260_-3259insAAATTTTATCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		3044		chr10	TogoVar
GLB1L3_chr11_134271379_134324564	134308398	T T	TCACCACC others(295): Show TCACCACCACCACCACCACCACCACCACCAAATACCACCACCACCATGTC CACCACCACTACCACCACCATCACCATCACCATCACCATCATCACCATCA CCACTACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ATCATCACCATCACCACCACCACCACCATCACCACCACCACCACCACCAC CAAATACCACCACCACCATGTCCACCACCACTACCACCACCATCACCATC ACCATCACCATCATCACCATCACCACTACCACCACCACCACCACCACCAT CAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02886.hp2 HG02895.hp2 others(1): Show HG02109.hp2 HG02886.hp2 HG02895.hp2 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0003c0007t0001 a0001c0001t0001 a0001c0001t0003 a0003c0007t0001	a0001c0001t0001g0139 a0001c0001t0001g0176 a0001c0001t0003g0177 others(1): Show a0001c0001t0001g0139 a0001c0001t0001g0176 a0001c0001t0003g0177 a0003c0007t0001g0126	4	422	0.0095	302	c.961 others(319): Show c.961+1195_961+1196insCCACCACCACCACCACCACCACCAAATA CCACCACCACCATGTCCACCACCACTACCACCACCATCACCATCACCATC ACCATCATCACCATCACCACTACCACCACCACCACCACCACCATCACCAC CATCACCACCACCACCATCATCACCATCACCACCACCACCACCATCACCA CCACCACCACCACCACCAAATACCACCACCACCATGTCCACCACCACTAC CACCACCATCACCATCACCATCACCATCATCACCATCACCACTACCACCA CCACCACCACCACCATCACCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(295): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAAGGG AGGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAG GGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01099.hp1 HG01433.hp1 others(10): Show HG00438.hp2 HG01099.hp1 HG01433.hp1 HG01433.hp2 HG01978.hp1 HG03710.hp1 NA18941.hp1 NA18946.hp1 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18986.hp1 NA20129.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0016 a0018	a0001c0001 a0002c0002 a0004c0003 others(2): Show a0001c0001 a0002c0002 a0004c0003 a0016c0023 a0018c0020	a0001c0001t0002 a0001c0001t0088 a0002c0002t0010 others(5): Show a0001c0001t0002 a0001c0001t0088 a0002c0002t0010 a0002c0002t0016 a0002c0002t0059 a0004c0003t0002 a0016c0023t0003 a0018c0020t0002	a0001c0001t0002g0114 a0001c0001t0002g0138 a0001c0001t0002g0147 others(10): Show a0001c0001t0002g0114 a0001c0001t0002g0138 a0001c0001t0002g0147 a0001c0001t0002g0160 a0001c0001t0002g0182 a0001c0001t0088g0186 a0002c0002t0010g0092 a0002c0002t0016g0014 a0002c0002t0016g0068 a0002c0002t0059g0061 a0004c0003t0002g0117 a0016c0023t0003g0142 a0018c0020t0002g0112	13	188	0.0692	302	c.229 others(321): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCC CTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTCCCTTCCCCTCCCT CCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCT CCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTTC CCCTCCCTCCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(295): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGG GGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAAGGG AGGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAG GGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01071.hp2 HG01361.hp1 others(6): Show HG00735.hp2 HG01071.hp2 HG01361.hp1 HG01517.hp2 HG02083.hp1 HG03195.hp2 HG04115.hp1 NA18971.hp2 NA19088.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0012 a0002c0002 others(1): Show a0001c0001 a0001c0012 a0002c0002 a0004c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0029 a0001c0001t0039 a0001c0012t0001 a0002c0002t0003 a0004c0003t0008	a0001c0001t0001g0121 a0001c0001t0001g0144 a0001c0001t0007g0045 others(6): Show a0001c0001t0001g0121 a0001c0001t0001g0144 a0001c0001t0007g0045 a0001c0001t0008g0130 a0001c0001t0029g0171 a0001c0001t0039g0055 a0001c0012t0001g0115 a0002c0002t0003g0127 a0004c0003t0008g0122	9	188	0.0479	302	c.229 others(321): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCC CTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCT CCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCT CCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTTC CCCTCCCTCCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar

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Search Results (Total: 10000 hits)