Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(411): Show TAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGT AGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGC TACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAG ACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACA AGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCG GAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACA GAGCGAGACGCCATCTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG01109.hp2 others(5): Show HG00558.hp2 HG00621.hp2 HG01109.hp2 HG01169.hp1 HG02897.hp1 HG02922.hp1 HG03486.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0014 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0002g0038	8	364	0.0220	418	c.18 others(429): Show c.1863_*1864insTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGG AGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCG CCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCC TCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAG GCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCA ATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTAC CATGCCTGCCTATTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(411): Show TAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	364	0.0028	418	c.18 others(429): Show c.1863_*1864insTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTG GAGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTC GCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTC ACCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGC CTCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCA GGCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTC AATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTA CCATGCCTGCCTATTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MXRA5_chrX_3303565_3351652	3326168	T T	TTTATAAT others(411): Show TTTATAATATATAATTTATAATTATAATTTATAATATATAATTTATAATT ATAATTTATAATATATAATTTATAATTATAAATTATAAATTATAATATAT AATTTATATATTATAAATTTATAATATATATATATAATTTATATATTATA ATTTATAATATATAATTTATAATTATAAGTTATATATTATAATTTTTAAT TATAAGTTATAATATATAATTTATAATTATAAGTTATAATATATAATTTA TAATTATAAGTTATAATATATAACTTATAAGTTATAATATATAACTTATA AGTTATAATATATAACTTATAAGTTATAATATATAACTTATAATTATAAG TTATAATATATAACTTATAAGTTATAATATATAACTTATAAGTTATAATA TATAACTTATAATTATAAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	284	0.0035	418	c.710 others(435): Show c.710-1194_710-1193insCTTATAATTATAAGTTATATATTATAAC TTATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAATT ATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAAGTTA TATATTATAACTTATAAGTTATATATTATAACTTATAATTATAAATTATA TATTATAACTTATAATTATAAATTATATATTATAACTTATAATTAAAAAT TATAATATATAACTTATAATTATAAATTATATATTATAAATTATAATATA TAAATTATATATATATATTATAAATTTATAATATATAAATTATATATTAT AATTTATAATTTATAATTATAAATTATATATTATAAATTATAATTATAAA TTATATATTATAAATTATAATTATAAATTATATATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
NDUFA3_chr19_54097855_54112568	54109797	C C	CTCCACCC others(411): Show CTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCC CTCCCTCAGTCCCAGCGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCC CAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCC CCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGG CCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGT CCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAG CCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCC GGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 NA18950.hp1 HG00558.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0001 a0001c0001t0001g0030	2	439	0.0046	418	c.28 others(429): Show c.2895_*2896insTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGC CCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCTCTCCACCCG GCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAG TCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACA GCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACC CGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTC AGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCT CAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCA CCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCT	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		2230		chr19	TogoVar
NDUFA3_chr19_54097855_54112568	54109797	C C	CTCCACCC others(411): Show CTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCC CTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCC CAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCC CCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGG CCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGGCCCTCCCTCAGT CCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAG CCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCC GGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	439	0.0023	418	c.28 others(429): Show c.2895_*2896insTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGC CCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCG GCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAG TCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACA GCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACC CGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTC AGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCT CAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCA CCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCT	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		2230		chr19	TogoVar
NDUFA3_chr19_54097855_54112568	54109797	C C	CTCCACCC others(411): Show CTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCC CTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCC CAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCC CCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGG CCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGT CCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAG CCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCC GGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp2 others(82): Show HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01243.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03927.hp1 NA18522.hp1 NA18943.hp2 NA18947.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18961.hp2 NA18962.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18976.hp2 NA18984.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19067.hp2 NA19070.hp2 NA19079.hp2 NA19080.hp2 NA19085.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0003g0013 a0001c0001t0008g0036	85	439	0.1936	418	c.28 others(429): Show c.2895_*2896insTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGC CCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCG GCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAG TCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACA GCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACC CGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTC AGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCT CAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCA CCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCT	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		2230		chr19	TogoVar
NDUFA3_chr19_54097855_54112568	54109826	C C	CTCAGCCC others(411): Show CTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTC CACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTC CCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAG CGCACAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTC TCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCC TCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCC AGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCC CTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGC CCTCCCTCAGTCCCAGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 NA18906.hp2 HG02895.hp1 HG02897.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	439	0.0068	418	c.29 others(429): Show c.2924_*2925insTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCA GTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCC TTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCC CTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGGCCCTCCCTCAGTCC CAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCC CTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGG CCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGT CCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAG CCCCTTCCACCCGGCCCTCCCTCAGTCCCAGTGA	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		2259		chr19	TogoVar
NDUFA3_chr19_54097855_54112568	54109843	G G	GGCCCTCC others(411): Show GGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCAC AGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCAC CCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCT CAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGC TCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCC ACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCC CTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGT GCTCAGCCCTCTCCACCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	439	0.0023	418	c.29 others(429): Show c.2941_*2942insGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCA CCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCC TCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCG CACAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTC CACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTC CCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAG TGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCT TCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCC TCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCA	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		2276		chr19	TogoVar
NELFB_chr9_137250327_137278542	137273768	A A	AATAATTT others(411): Show AATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATAATTTCTGG GGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGG TTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATGATA TAATAATTTCTGGGGGAAGTTGATACAATTTCTGGGGGAGGTTGATGTAA TTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGG GAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGAT ATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATGTA ATTTCTGGGGGAGGTTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01243.hp1 HG02055.hp2 others(17): Show HG00741.hp2 HG01243.hp1 HG02055.hp2 HG02145.hp1 HG02615.hp2 HG02630.hp2 HG02723.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03130.hp2 HG03453.hp2 HG03516.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0010 a0001c0002t0002g0039 a0001c0002t0002g0201 others(14): Show a0001c0002t0002g0010 a0001c0002t0002g0039 a0001c0002t0002g0201 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0006g0039 a0001c0002t0006g0211	20	364	0.0550	418	c.84 others(427): Show c.840_*841insATAATTTCTGGGGGAGGATGATATAATTTCTGGGGG AGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATA TAATAATTTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAA TTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTG GGGGAGGATGATATAATAATTTCTGGGGGAAGTTGATACAATTTCTGGGG GAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGAT ATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATT TCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGG GGAGGTTGATGTAATTTCTGGGGGAGGTTGAT	NELFB	ENSG00000188986.9	transcript	ENST00000343053.6	protein_coding		227		chr9	TogoVar
NELFB_chr9_137250327_137278542	137273768	A A	AATAATTT others(411): Show AATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATAATTTCTGG GGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGG TTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATGATA TAATAATTTCTGGGGGAAGTTGATATAATTTCTGGGGGAGGTTGATGTAA TTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGG GAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGAT ATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATGTA ATTTCTGGGGGAGGTTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00597.hp2 others(105): Show HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp2 NA18953.hp1 NA18954.hp2 NA18961.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18984.hp1 NA18987.hp2 NA18993.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19057.hp1 NA19065.hp1 NA19067.hp1 NA19070.hp1 NA19077.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0011 others(3): Show a0001c0002 a0001c0007 a0001c0011 a0001c0012 a0001c0014 a0001c0015	a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 others(5): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0007t0002 a0001c0011t0002 a0001c0012t0002 a0001c0014t0002 a0001c0015t0002	a0001c0002t0002g0002 a0001c0002t0002g0008 a0001c0002t0002g0012 others(73): Show a0001c0002t0002g0002 a0001c0002t0002g0008 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0038 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0069 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0079 a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0217 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0228 a0001c0002t0002g0236 a0001c0002t0003g0011 a0001c0002t0003g0227 a0001c0002t0007g0037 a0001c0007t0002g0057 a0001c0011t0002g0002 a0001c0012t0002g0074 a0001c0014t0002g0025 a0001c0015t0002g0002	108	364	0.2967	418	c.84 others(427): Show c.840_*841insATAATTTCTGGGGGAGGATGATATAATTTCTGGGGG AGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATA TAATAATTTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAA TTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTG GGGGAGGATGATATAATAATTTCTGGGGGAAGTTGATATAATTTCTGGGG GAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGAT ATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATT TCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGG GGAGGTTGATGTAATTTCTGGGGGAGGTTGAT	NELFB	ENSG00000188986.9	transcript	ENST00000343053.6	protein_coding		227		chr9	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(411): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC TTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCC GTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCA TCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATC CATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTA GTTTATCCATCCCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG01358.hp2 others(4): Show HG00280.hp1 HG00738.hp2 HG01358.hp2 HG02818.hp1 HG03041.hp2 HG03942.hp2 HG04228.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0008 a0001c0001 a0009c0008	a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 others(2): Show a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0128 a0009c0008t0040	a0001c0001t0040g0025 a0001c0001t0041g0023 a0001c0001t0041g0236 others(4): Show a0001c0001t0040g0025 a0001c0001t0041g0023 a0001c0001t0041g0236 a0001c0001t0042g0099 a0001c0001t0042g0129 a0001c0001t0128g0106 a0009c0008t0040g0289	7	366	0.0191	418	c.47 others(427): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCC GTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCA TCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATC CATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTT ATCCATCCCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(411): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCC GTCCGTCTGTCCCATCCATCCATCCATCCGTCCGTCCGTCCATCCATCCA TCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATC CATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTA GTTTATCCATCCCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0133 a0001c0001t0133	a0001c0001t0133g0108 a0001c0001t0133g0108	1	366	0.0027	418	c.47 others(427): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCC GTCTGTCCCATCCATCCATCCATCCGTCCGTCCGTCCATCCATCCATCCA TCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATC CATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTT ATCCATCCCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(411): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCC GTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCA TCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATC CATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTA GTTTATCCATCCCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00609.hp2 others(28): Show HG00140.hp1 HG00558.hp1 HG00609.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01099.hp1 HG01109.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG03704.hp2 HG03927.hp2 NA18995.hp1 NA18998.hp1 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19055.hp2 NA19079.hp2 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0020 others(7): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0020 a0001c0001t0027 a0001c0001t0043 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139	a0001c0001t0003g0016 a0001c0001t0003g0033 a0001c0001t0003g0065 others(28): Show a0001c0001t0003g0016 a0001c0001t0003g0033 a0001c0001t0003g0065 a0001c0001t0003g0105 a0001c0001t0003g0174 a0001c0001t0003g0237 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0269 a0001c0001t0003g0283 a0001c0001t0003g0291 a0001c0001t0003g0310 a0001c0001t0012g0068 a0001c0001t0012g0073 a0001c0001t0012g0195 a0001c0001t0012g0298 a0001c0001t0012g0305 a0001c0001t0020g0074 a0001c0001t0020g0249 a0001c0001t0020g0296 a0001c0001t0020g0357 a0001c0001t0027g0294 a0001c0001t0027g0309 a0001c0001t0027g0328 a0001c0001t0043g0132 a0001c0001t0043g0359 a0001c0001t0135g0149 a0001c0001t0136g0271 a0001c0001t0137g0088 a0001c0001t0138g0086 a0001c0001t0139g0277	31	366	0.0847	418	c.47 others(427): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCC GTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCA TCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATC CATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTT ATCCATCCCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(411): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCC GTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCA TCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATC CATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTT ATCCATCCCCATCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01071.hp1 HG01192.hp2 HG02559.hp2 others(1): Show HG01071.hp1 HG01192.hp2 HG02559.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0142 a0001c0001t0143 a0001c0001t0044 a0001c0001t0142 a0001c0001t0143	a0001c0001t0044g0049 a0001c0001t0044g0303 a0001c0001t0142g0011 others(1): Show a0001c0001t0044g0049 a0001c0001t0044g0303 a0001c0001t0142g0011 a0001c0001t0143g0102	4	366	0.0109	418	c.47 others(427): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCT GTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCATCCA TCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATT CCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCC ATCCCCATCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(411): Show CTGTGTACAGCATGTATACTGTATGTATGTATACTGTATGTATGTATACT GTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACA GTATGTATACTGTGTATGCAGTATGTATACAGTATACATACTGCATGCAG TATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATATATACA CTATACAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTA TATATACACACAGTATGTATACTGTATATATACACACAGTATGTATACTG TATATATACACACAGTATGTATACTGTATATATACACACAGTATGTATAC TGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0172 a0001c0001t0007g0172	1	362	0.0028	418	c.-75 others(437): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATAT ATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATG CAGTATGTATACTGTATACATACTGCATACACAGTATACATACTGTGTAT ATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACATACAGTATAC ATACATACAGTATACATACATACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NLRP8_chr19_55942832_55993629	55993533	C C	CCCTCCCC others(411): Show CCCTCCCCCCCTCCCCCCCTCCCCTCCCCCTTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCCCTCCCCCCCTCCCC CCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCC CTCCCCCCCTCCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCCC CCTCCCCTCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0000 a0000	a0000c0001 a0000c0001	a0000c0001t0017 a0000c0001t0017	a0000c0001t0017g0125 a0000c0001t0017g0125	1	350	0.0029	418	c.56 others(429): Show c.5620_*5621insCCTCCCCCCCTCCCCCCCTCCCCTCCCCCTTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCC CCTCCCCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCTC CCCCTCCCCCCTCCCCTCCCCCCCTCCCCCCCTCCCCTCCCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCC CTCCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4905		chr19	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(411): Show GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGC AATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAG GGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCC GGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCC CAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCT CCCAGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0301 a0001c0001t0007g0301	1	324	0.0031	418	c.140 others(435): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGG ATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAG GGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCTGGGA GGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGC CCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCA CCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(411): Show GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGC AATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAG GGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCC GGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCC CAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCT CCCAGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG02074.hp1 others(8): Show HG00597.hp1 HG00609.hp1 HG02074.hp1 HG02155.hp2 HG02165.hp1 NA18952.hp2 NA18960.hp1 NA18964.hp1 NA18971.hp1 NA19005.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0013 others(1): Show a0001c0001 a0001c0008 a0001c0013 a0001c0048	a0001c0001t0001 a0001c0001t0003 a0001c0008t0003 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0008t0003 a0001c0013t0001 a0001c0013t0003 a0001c0048t0001	a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0003g0225 others(8): Show a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0003g0225 a0001c0001t0003g0228 a0001c0001t0003g0232 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0008t0003g0234 a0001c0013t0001g0231 a0001c0013t0003g0226 a0001c0048t0001g0233	11	324	0.0340	418	c.140 others(435): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGG ATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAG GGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGA GGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGC CCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCA CCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
PACS2_chr14_105309748_105403147	105349875	A A	AGCGTGGC others(411): Show AGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAAT AGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCTAATAGCAGGACCCCG AGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGGG AGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCTA ATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCC CGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCA GGAGAGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGC TAATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGAC CCCGAGAACTTCCGGGAGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG03209.hp1 others(2): Show HG02280.hp2 HG02572.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0048 a0002c0003t0001 a0002c0003t0002 a0002c0003t0048	a0002c0003t0001g0175 a0002c0003t0002g0002 a0002c0003t0002g0170 others(2): Show a0002c0003t0001g0175 a0002c0003t0002g0002 a0002c0003t0002g0170 a0002c0003t0002g0174 a0002c0003t0048g0002	5	210	0.0238	418	c.207 others(435): Show c.207+1327_207+1328insGGGAGCGCGTGGCTAATAGCAGGACCCC GAGAACTTCCAGGAGAGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGG GAGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCT AATAGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCTAATAGCAGGACC CCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCC GGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCAGGAGAGCGTGG CTAATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGA CCCCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTT CCGGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCC	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(411): Show GTGTGTGCATATATATACATATATATACATATATATGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATATGT GTGCATATATATACATATATATGTGTGCATATATATACATATATATGTGT GCATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	156	0.0064	418	c.196 others(439): Show c.1964+81223_1964+81224insACATATATATGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATATGT GTGCATATATATACATATATATGTGTGCATATATATACATATATATGTGT GCATATATATACATATATATGTGTGCATATATATACATATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDCD6_chr5_266646_319974	318187	A A	ACCCTGCA others(411): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCAATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCAC CCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCC CCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTAC CTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTC ACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCA CCCTGCACCTCCCACCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 NA19085.hp2 HG00673.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0195 a0001c0002t0001g0155 a0001c0001t0001g0195 a0001c0002t0001g0155	2	360	0.0056	418	c.36 others(429): Show c.3672_*3673insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCAATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCATCCTT CACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCC CACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCT CCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCAC CTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTC CACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3214		chr5	TogoVar
PDCD6_chr5_266646_319974	318187	A A	ACCCTGCA others(411): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCAC CCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCC CCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTAC CTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTC ACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCA CCCTGCACCTCCCACCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA19012.hp1 NA19056.hp2 others(1): Show NA18980.hp2 NA19012.hp1 NA19056.hp2 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0087 a0001c0002t0001g0002 a0001c0002t0001g0087	4	360	0.0111	418	c.36 others(429): Show c.3672_*3673insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCATCCTT CACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCC CACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCT CCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCAC CTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTC CACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3214		chr5	TogoVar
PDE10A_chr6_165322289_165668241	165619273	C C	CATAGTCT others(411): Show CATAGTCTAGTGTAGTGTAGTGTAGTCTAGTGCGGTGTAGTCTAGTGTAG TGTAGTCTAGTGTAGTGTAGTGTAGTGTAGTCTAGTATAGTGTAGTGTAG TGTAGTCTAGTGTAGCCTAGTGTAGTGTAGGCTAGGGTAGGCTAGTGTAG GCTAGTGTAGTGTAGTAGTGTAGTCTAGTGTAGTGTAGTCTAGTGTAGTC TAGTATAGTGTAGTGTAGTCTAGTGTACTGTAGTGTAGTATAGTGTAGTC TAGTGTGGTGTGGTGTGGTGTAGTGTAGTCTAGTGTAGTCTAGTGTACTG TAGTGTAGTGCAGTGTAGTCTAGTGTAGTGTAGTCTAGTATAGTGTAGTC CAGTGTAGTGTAGTATAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTC TAGTGTAGTCTAGTGTACT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01884.hp1 HG02145.hp1 others(3): Show HG00642.hp1 HG01884.hp1 HG02145.hp1 HG02922.hp2 HG03195.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0015 others(2): Show a0001c0001 a0001c0006 a0001c0015 a0001c0020 a0001c0031	a0001c0001t0001 a0001c0006t0001 a0001c0006t0006 others(3): Show a0001c0001t0001 a0001c0006t0001 a0001c0006t0006 a0001c0015t0005 a0001c0020t0008 a0001c0031t0004	a0001c0001t0001g0147 a0001c0006t0001g0213 a0001c0006t0006g0211 others(3): Show a0001c0001t0001g0147 a0001c0006t0001g0213 a0001c0006t0006g0211 a0001c0015t0005g0209 a0001c0020t0008g0146 a0001c0031t0004g0212	6	222	0.0270	418	c.865 others(437): Show c.865+42673_865+42674insAGTACACTAGACTACACTAGACTACA CTACACTACACTACAGTACACTAGACTATACTACACTACACTGGACTACA CTATACTAGACTACACTACACTAGACTACACTGCACTACACTACAGTACA CTAGACTACACTAGACTACACTACACCACACCACACCACACTAGACTACA CTATACTACACTACAGTACACTAGACTACACTACACTATACTAGACTACA CTAGACTACACTACACTAGACTACACTACTACACTACACTAGCCTACACT AGCCTACCCTAGCCTACACTACACTAGGCTACACTAGACTACACTACACT ACACTATACTAGACTACACTACACTACACTACACTAGACTACACTACACT AGACTACACCGCACTAGACTACACTACACTACACTAGACTAT	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PIMREG_chr17_6439455_6456469	6455713	G G	GGGGGAAG others(411): Show GGGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGG GAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAA GGGGGAAGAGGGGATGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 NA18906.hp2 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0052 a0001c0001t0001g0004 a0001c0001t0001g0052	2	312	0.0064	418	c.53 others(429): Show c.5366_*5367insGGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGG GGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGA GGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGG GGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGA GGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4245		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455713	G G	GGGGGAAG others(411): Show GGGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGG GAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAA GGGGGAAGAGGGGATGGGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03471.hp2 NA18906.hp1 HG02976.hp2 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0152 a0001c0001t0022g0153 a0001c0001t0022g0196 a0001c0001t0022g0152 a0001c0001t0022g0153 a0001c0001t0022g0196	3	218	0.0138	418	c.262 others(433): Show c.2620-71_2620-70insTCCCATCCCCTCTTCCCCCTTCCCTCCTCT CCCCTCCCCTCCTCTCCCCTTCCCCTCTTCCCCCCCTTCCCCTCTTCCCC CTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCT CCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCC CCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCC TCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTC TTCCCTCCTCTCCCCTCCCCTATTCCCCCTCCCCTCCCTTCCCCTCTTCC CCCTCCCATCTCCTCCCCTCCCCTCTTCCCCCTCCCCTCCCCTCCCCTCT TCCCCCTCCCCTCTTCCCCCTCCCCTCCCCTCTTCCCC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PKP3_chr11_389209_409908	401430	G G	GCCCCGCT others(411): Show GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGC TCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACA CCCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCC GGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCC CCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCT CACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCAC ACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACC CGCCCCGCTCACACCCGGC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0148	1	216	0.0046	418	c.173 others(435): Show c.1737+728_1737+729insCGCTCACACCCGGCCCCGCTCACACCCG CCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCC GCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCGCTCACACCCCGCCCCGCTCACACCCGGCCCCGCTCACA CCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCG GCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCC GCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA CCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401552	G G	GCCCGCTC others(411): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCT CACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCTCCGCTCACC CCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCC GGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGC CCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCG CTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCAC ACCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0164 a0001c0003t0001g0164	1	216	0.0046	418	c.173 others(435): Show c.1737+856_1737+857insACCCGCCCCGCTCACCCCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCAC ACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCC GCTCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCG CTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTC ACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCC CGGCCCGCTCACACCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGG CCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHG4B_chr5_87168_194966	165481	A A	AGCTCACA others(411): Show AGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACG GGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCT CTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGT ACTCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCT CACACTAATGCTCTGACGGGGCGGGGCTCACTAATGCTCTGACGGGGCGG GGCTCACACTAACGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACG GGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCT CTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACT AATGCTCTGATGGGGCGGG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0059 a0001c0001t0079g0059	1	210	0.0048	418	c.347 others(437): Show c.3476+1960_3476+1961insAGCTCACACTAATGCTCTGACGGGGC GGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGA CGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTACTC CTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACA CTAATGCTCTGACGGGGCGGGGCTCACTAATGCTCTGACGGGGCGGGGCT CACACTAACGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGC GGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGA CGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATG CTCTGATGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLPP2_chr19_276043_296403	291604	G G	GGAGGGGG others(411): Show GGAGGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGA GGGGAGGGCAGCAGGGGAGAGGGAGGAGGGGAGGGGCGGGGAGGGGAGGG GAGGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAG GGGAGCGGCGGGCAGGGGAGTGGCGGGCGGGGCGGGGAGGAGGGGAGGGA GGGGAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAG CGGCGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGG GCGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGA GGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGA GGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	354	0.0028	418	c.-26 others(427): Show c.-269_-268insTCCCTCCTCCCCTCCCCCCTCTCCCCTCCCCGCCCC TCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCCCTCCCCGCCCC TCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAACCCTCCCCTCC TCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTCCCCGCCTTC CTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCTCCCCTCCTCCCC GCCCCGCCCGCCACTCCCCTGCCCGCCGCTCCCCTGCCCGCCGCTGCCGT CCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCCCGCCC CTCCCCTCCTCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGCCCGCC GCTCCCCTGCCCGCCGCTGCCGTCCCCCCCTC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		202		chr19	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGG others(411): Show GGGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGG GGAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGA GGAGGGAGGGGGAGGGGAGGGAGGGAGGGGGGACGGCAGCGGCGGGCAGG GGAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAG GGGAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGGACGGCAG CGGCGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGG GCGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGA GGGGGGAGGGAGAGGAGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGA GGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	354	0.0028	418	c.-27 others(427): Show c.-277_-276insTCCCTCCTCCCCTCCCCCCTCCCTCCTCCCCTCCCC CCTCCCCTCCCCCTCCCTCCTCTCCCTCCCCCCTCTCCCCTCCCCGCCCC TCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAACCCTCCCCTCC TCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTCCCCCGCCTT CCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCTCCCCTCCTCCC CGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCCCGCCGCTGCCG TCCCCCCTCCCTCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCCCGC CCCTCCCCTCCTCCCCCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGCCCG CCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
RECQL4_chr8_144506288_144522833	144513846	T T	TGGGCAGT others(411): Show TGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGA GGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGGTCGGCGTGGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGAGTGAGG AGGGGTCGCGTGGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGA GAGAGGAGGGGTCGGCGTG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0207 a0010c0012t0001g0207	1	412	0.0024	418	c.205 others(433): Show c.2058+81_2058+82insCACGCCGACCCCTCCTCTCTCCCCACCGCC CACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCGACCCCTCCTCTCT CCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCGACC CCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCC CACGCCGACCCCTCCTCACTCCCCACCCACGCGACCCCTCCTCACTCCCA CCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCC TCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCCACG CCGACCCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCC CACCGCCCAGGCCGACCCCTCCTCACTCCCCACTGCCC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(411): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGAAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGA GGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGG AGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0004 a0001c0001t0001g0014	2	318	0.0063	418	c.36 others(429): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGAAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGG AGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGA GGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGG GAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGG AGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGG AGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(411): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAG GGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAG AGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAG GGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGG GAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGG AGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	318	0.0031	418	c.36 others(429): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGA GGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAG GAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGA GGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGG GGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGG AGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGG AGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(411): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGACGGGGA GGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGG AGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	318	0.0031	418	c.36 others(429): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGG AGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGA GGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGG GAAGGGGGACGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGG AGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGG AGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(411): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGA GGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGG AAGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	318	0.0031	418	c.36 others(429): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGG AGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGA GGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGG GAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGG AGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGG AGGAGGGGACGGGGGAAGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(411): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGA GGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGG AGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(59): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01074.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01943.hp1 HG01978.hp2 HG02027.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02615.hp1 HG02723.hp2 HG02886.hp1 HG03017.hp1 HG03017.hp2 HG03225.hp2 HG03540.hp1 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 NA18948.hp2 NA18951.hp1 NA18966.hp1 NA18971.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18995.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp2 NA19074.hp1 NA19080.hp1 NA19080.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0002g0020 a0001c0001t0002g0109 a0001c0001t0002g0124 a0001c0001t0002g0146 a0001c0001t0005g0006 a0001c0001t0005g0015 a0001c0001t0010g0093 a0001c0001t0015g0073 a0001c0001t0016g0001 a0004c0005t0001g0006	62	318	0.1950	418	c.36 others(429): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGG AGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGA GGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGG GAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGG AGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGG AGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(411): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC ACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCG CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC CTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGGG AGGGAGGCGCGGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0002 a0001c0002t0018g0002	1	204	0.0049	418	c.880 others(435): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCCGCGCCTCCCTCCCGGACGG GGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGC TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT GACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
SCAMP1_chr5_78355617_78485739	78430042	T T	TTACAGTA others(411): Show TTACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TACAGTATTTATTTATAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01978.hp1 HG02148.hp2 HG01496.hp2 HG01978.hp1 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0012 a0001c0002t0004 a0001c0002t0012	a0001c0002t0004g0008 a0001c0002t0004g0042 a0001c0002t0012g0022 a0001c0002t0004g0008 a0001c0002t0004g0042 a0001c0002t0012g0022	3	332	0.0090	418	c.632 others(435): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TACAGTATTTATTTATAAATACAGTATTTATTTATAAATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCNN1D_chr1_1275436_1297025	1288457	C C	CCGTGTCT others(411): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	290	0.0035	418	c.166 others(435): Show c.1662+421_1662+422insGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288695	T T	TCCGTCCC others(411): Show TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	290	0.0035	418	c.166 others(435): Show c.1662+665_1662+666insGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1071289	C C	CCCCCAGC others(411): Show CCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCAGTGA GCCCCCAGCACACGGCATCACACTTAACGCAGCCCCCAGTGAGCCCCCAG CACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCAGCACACGGGCA TCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTAT GCAGCCCCCAGTGAGCCCCAGCACACGGGCATCACACTTATGCAGCCCCA GTGAGCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCAG CACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCC CAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC GGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0067 a0002c0008t0002g0067	1	118	0.0085	418	c.224 others(437): Show c.2241+2343_2241+2344insCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTC ACTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGC TCACTGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGCTCACTGGGGCT GCATAAGTGTGATGCCCGTGTGCTGGGGCTCACTGGGGGCTGCATAAGTG TGATGCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGT GTGCTGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGG CTCACTGGGGGCTGCGTTAAGTGTGATGCCGTGTGCTGGGGGCTCACTGG GGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC37A3_chr7_140328752_140403530	140387779	A A	AATATAAA others(411): Show AATATAAATATATTTATATATTATATATAATATAAATATATTATATATAT TATACATAAATATAAATATATTATATATATTATACATAAATATAAATATA TTATATATATTATATATAATATAAATATATTATATATATTATATATAAAT ATAAATATATTATATATATTATATATAAATATAAATATATTATATATTAT ATAAATATAAATATATTATATATTATATAAATATAAATATATTATATATT ATATATAAATATAAATATATTATATATTATATATAATATAAATATATTAT ATATATTATATATAATATAAATATATTAATATATTATATATAATATAAAT ATATTATATATAATATAAATATATTATATATATTATATATAATATAAATA TATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02622.hp2 HG02976.hp2 others(2): Show HG02486.hp2 HG02622.hp2 HG02976.hp2 HG03130.hp1 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0009 a0001c0003t0010 a0001c0003t0002 a0001c0003t0009 a0001c0003t0010	a0001c0003t0002g0231 a0001c0003t0009g0230 a0001c0003t0009g0232 others(2): Show a0001c0003t0002g0231 a0001c0003t0009g0230 a0001c0003t0009g0232 a0001c0003t0009g0273 a0001c0003t0010g0229	5	346	0.0145	418	c.-70 others(435): Show c.-70-5184_-70-5183insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATTTATATT ATATATAATATATTAATATATTTATATTATATATAATATATATAATATAT TTATATTATATATAATATATAATATATTTATATTTATATATAATATATAA TATATTTATATTTATATAATATATAATATATTTATATTTATATAATATAT AATATATTTATATTTATATATAATATATATAATATATTTATATTTATATA TAATATATATAATATATTTATATTATATATAATATATATAATATATTTAT ATTTATGTATAATATATATAATATATTTATATTTATGTATAATATATATA ATATATTTATATTATATATAATATATAAATATATTTATAT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC45A1_chr1_8313114_8349165	8344892	A A	ACATATCC others(411): Show ACATATCCACCCATCCACCCATCCAAATATCCACTTCTCCATATATACAT CCATCCATCTATCCATCCATCCATCCACATATCCACCCATCCACCCATCC AAATATCCACTTCTCCTTAGATACATCCATCCATCTATCCATCCATCCAC CCATCTAAATATCCACTTCTCCATATATCCATCCATCTGTCCACCCATCC ATCCATCCATCCATCTATCCATCCATCCACCCATCTAAATATCCACTTCT CCATATATCCATCCATCTGTCCACCCATCCATCCATCCATCCATCTATCC ATCCATCCACCCATCTAAATATCCACTTCTTCATATATCCATCCATCCAC CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ACATATCCAGCCATCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0246 a0001c0003t0001g0246	1	388	0.0026	418	c.87 others(427): Show c.879_*880insCATATCCACCCATCCACCCATCCAAATATCCACTTC TCCATATATACATCCATCCATCTATCCATCCATCCATCCACATATCCACC CATCCACCCATCCAAATATCCACTTCTCCTTAGATACATCCATCCATCTA TCCATCCATCCACCCATCTAAATATCCACTTCTCCATATATCCATCCATC TGTCCACCCATCCATCCATCCATCCATCTATCCATCCATCCACCCATCTA AATATCCACTTCTCCATATATCCATCCATCTGTCCACCCATCCATCCATC CATCCATCTATCCATCCATCCACCCATCTAAATATCCACTTCTTCATATA TCCATCCATCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCACATATCCAGCCATCCACC	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding		728		chr1	TogoVar
SLC5A9_chr1_48217716_48253638	48244736	A A	ATATATAT others(411): Show ATATATATAAATTATATTTATATTATATATAAATTATATTTATATTATAT ATAAATTATATTTATATTATATATAAATTATATTTATATTATATATAAAT TATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATT TATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATT ATATATAAATTATATTTATATTATATATAAATTATATTTATATTATATAT AAATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTA TATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTTA TATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTAT ATATAAATTATATTTATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp1 HG01109.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0210 a0002c0002t0003g0222 a0002c0002t0003g0210 a0002c0002t0003g0222	2	420	0.0048	418	c.183 others(437): Show c.1837+2216_1837+2217insAATTATATTTATATTATATATAAATT ATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTT ATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTA TATATAAATTATATTTATATTATATATAAATTATATTTATATTATATATA AATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTAT ATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTTAT ATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTATA TATAAATTATATTTATATTATATATAAATTATATTTATATTATATATAAA TTATATTTATATTATATATAAATTATATTTATATTATATATA	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC6A3_chr5_1387794_1450440	1414453	G G	GCAGGGCG others(411): Show GCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGA AGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTG GGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAG GGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGG GAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGG TGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGG AGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAA GGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTG GGTGGGGGGCCTGGAGGGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	373	0.0027	418	c.115 others(435): Show c.1156+237_1156+238insACCCTCCAGGCCCCCCACCCAGTGCCTT CCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCC CCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCC CCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCC TTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTG CCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCC CCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTG CCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCC TGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	92143421	T T	TATTATAT others(411): Show TATTATATATAAAATATATATATTATATAATATATATATAAAATATATAT ATTATATAATATATATATAAAATATATATATTATATAATATATATATAAA ATATATATATTATATAATATATATATAAAATATATATATTATATATTATA TAATATATATATAAAATATATATATTATATATTATATAATATATATATAA AATATATATAATATATAATATATGTAATATTATATATATAATATATTATA TATATTATATATTATATATATTATATATTATATATATTATATATTATATA TATTATATATTATATATATTATATATAATATATATTATATATTATATATA TTATATATAATATATTATATATAATATATATAATATATTATATATAATAT ATATAATATATTATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	190	0.0053	418	c.151 others(437): Show c.1513-3561_1513-3560insTATATATAAAATATATATATTATATA ATATATATATAAAATATATATATTATATAATATATATATAAAATATATAT ATTATATAATATATATATAAAATATATATATTATATAATATATATATAAA ATATATATATTATATATTATATAATATATATATAAAATATATATATTATA TATTATATAATATATATATAAAATATATATAATATATAATATATGTAATA TTATATATATAATATATTATATATATTATATATTATATATATTATATATT ATATATATTATATATTATATATATTATATATTATATATATTATATATAAT ATATATTATATATTATATATATTATATATAATATATTATATATAATATAT ATAATATATTATATATAATATATATAATATATTATATATAAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SNX9_chr6_157818246_157950077	157827205	C C	CATATATT others(411): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATAGTTTATA TAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATACACATATATTATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATA TAATATATAAAATATATTATAGTTTATATAATATATACATATATATTATA GTTTATATAATATATACAT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	302	0.0033	418	c.12+ others(433): Show c.12+3851_12+3852insGTTTATATAATATATAAACATATAGTTTAT ATAATATATAAACATATAGTTTATATAATATATAAACATATATTATAGTT TATATAATATATAAACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGT TTATATAATATATACATATATATTATAGTTTATATAATATATACATATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATC1L_chr21_46156160_46189459	46161025	G G	GGGAAGGG others(411): Show GGGAAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAG GGGGAGGTGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGA GGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACG GGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAG GGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGG GAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAG GGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAAGGGGG AGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGG GGGAGGGGGAGGGGGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	251	0.0040	418	c.35 others(427): Show c.353_*354insGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCCCCTC CCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCTCCCC CCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCC CCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCCTCCCCC TCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCC CCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCT CCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCACCTCCC CCTCCCCCTCCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCC CCTTCCCCCTCCCCCTTCCCCCTTCCCCTTCC	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		134		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGGA others(411): Show AAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGGGAAGGGG GAGGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGG GAGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGAGGGGGAAGGGG GAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAG GGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGG GAGGGGGAGGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAAGGGGGAGGG GGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGATATGGGGAGGGGGA GGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0028 a0012c0014t0028	a0012c0014t0028g0041 a0012c0014t0028g0041	1	251	0.0040	418	c.34 others(427): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATATCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCC TCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCC GTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCC CCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCT CCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCC GCTTCCCCCTCCCCCGTTCCCGCTTCCCCCCTCCCCCTTCCCCCTCCCCC TCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACC TCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(411): Show AGGGGAGGGGAAGGGAAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGAGGGGGAGGGGAGGGGAGGGAGG GGGAGGGGGGGGGAGGGGAGGGGGGAGGGGGGGGAGGGGAGGGGGGAGGG GGGGGAGGGGAGGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGG AGGGGAGGGGGAGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGG GGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGGAGGG GGGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGGG AGGGGAGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0223 a0002c0002t0002g0223	1	260	0.0039	418	c.138 others(437): Show c.1384-5708_1384-5707insCTCCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCCTCCC CTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCCTCCC CTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCTCCCCCTCCCCTCCCCCCC CCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCCTCCC CCCTCCCCTCCCCCCCCTCCCCCCTCCCCTCCCCCCCCCTCCCCCTCCCT CCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCTTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar

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Search Results (Total: 10000 hits)