Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(428): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATA GATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCT ATTCCGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCA GAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0005 a0001c0004t0002g0005	1	262	0.0038	435	c.129 others(452): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCG AATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCG AATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCG AATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCTA TTCGGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTG AAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(428): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTATTCTGAAAAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19091.hp2 NA18970.hp1 NA19091.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0013 a0001c0004t0002 a0001c0004t0013	a0001c0004t0002g0176 a0001c0004t0013g0092 a0001c0004t0002g0176 a0001c0004t0013g0092	2	262	0.0076	435	c.129 others(452): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTTTTCAGAATAGATCTATTCCGAATAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(428): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTATTCTGAAAAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCA GAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCAGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0262 a0001c0004t0001g0262	1	262	0.0038	435	c.129 others(452): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCTGAATAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTTTTCAGAATAGATCTATTCCGAATAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(428): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTATTCTGAAAAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCCGAATA GATCTATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCAGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0004 a0004	a0004c0025 a0004c0025	a0004c0025t0001 a0004c0025t0001	a0004c0025t0001g0187 a0004c0025t0001g0187	1	262	0.0038	435	c.129 others(452): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCTGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCGGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTTTTCAGAATAGATCTATTCCGAATAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PERM1_chr1_970198_987093	976907	C C	CAACCCCG others(428): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACAC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	408	0.0025	435	c.215 others(452): Show c.2150-284_2150-283insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGTGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGC GGTTCCCGGGGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTGGTGGGGG GAGTGGGAGGCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCG GGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTG GGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGT TGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGC GGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGG GGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCC CGGGGTT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977160	C C	CCAACCCC others(428): Show CCAACCCCGGGAACCGCCTGCCCCCCGCCACCAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCC GGGAACCGCCTCCCACTCCCCCCGCAACCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACC AACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCC GGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	408	0.0025	435	c.215 others(452): Show c.2150-537_2150-536insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAG TGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGTTGCGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGG GGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGCGGGGGGCAGGCGGTTCCC GGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977160	C C	CCAACCCC others(428): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACC AACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCC GGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	408	0.0025	435	c.215 others(452): Show c.2150-537_2150-536insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAG TGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGG GTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGCGGGGGCAGGCGGTTCCC GGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977544	C C	CCCCGGGA others(428): Show CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCACCAACCCCGGGAACGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCGCGCAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	408	0.0025	435	c.215 others(452): Show c.2150-921_2150-920insTTGCGCGGGGAGTGGGAGGCGGTTCCCG GGGTTGCGGGGGGAGTGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGG AGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGTTGG TGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGG TTCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGG GAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCG GGGTTGCGGGGGGAGTGGGAGGCGTTCCCGGGGTTGGTGGGGGGAGTGGG AGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGC GGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGT TCCCGGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PKP3_chr11_389209_409908	398399	G G	GCGTCACC others(428): Show GCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGC ACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCT ACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTC ACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACA CCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCC CGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	216	0.0046	435	c.106 others(452): Show c.1069-583_1069-582insCTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGT CACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398671	C C	CTACCCCC others(428): Show CTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCG TCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACA CACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACC CCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACC TCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCT GCATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGC ACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCT ACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTC ACCTCCGTACCCCCGCACACACCTCCGTCACCTCCG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	216	0.0046	435	c.106 others(452): Show c.1069-304_1069-303insCCGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGT CACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACAC ACCTGCATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTC CGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCA CACACCT	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHN1_chr1_961482_980865	976907	C C	CAACCCCG others(428): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACAC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	435	c.23 others(446): Show c.2332_*2333insAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCG CCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACC AACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGC CCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACACCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC G	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1043		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977160	C C	CCAACCCC others(428): Show CCAACCCCGGGAACCGCCTGCCCCCCGCCACCAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCC GGGAACCGCCTCCCACTCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACC AACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCC GGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0001 a0001c0001t0043g0001	1	422	0.0024	435	c.25 others(446): Show c.2585_*2586insCAACCCCGGGAACCGCCTGCCCCCCGCCACCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC G	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1296		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977160	C C	CCAACCCC others(428): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACC AACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCC GGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 NA18966.hp2 NA19003.hp1 others(1): Show HG02135.hp2 NA18966.hp2 NA19003.hp1 NA19012.hp2	a0001 a0002 a0021 a0001 a0002 a0021	a0001c0001 a0002c0002 a0021c0039 a0001c0001 a0002c0002 a0021c0039	a0001c0001t0001 a0002c0002t0001 a0021c0039t0001 a0001c0001t0001 a0002c0002t0001 a0021c0039t0001	a0001c0001t0001g0001 a0002c0002t0001g0003 a0021c0039t0001g0001 a0001c0001t0001g0001 a0002c0002t0001g0003 a0021c0039t0001g0001	4	422	0.0095	435	c.25 others(446): Show c.2585_*2586insCAACCCCGGGAACCGCCTGCCCCCGCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC G	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1296		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977160	C C	CCAACCCC others(428): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACC AACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0141 a0001c0001t0028g0141	1	422	0.0024	435	c.25 others(446): Show c.2585_*2586insCAACCCCGGGAACCGCCTGCCCCCGCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC G	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1296		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977192	C C	CCAACCCC others(428): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACC AACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCC GGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	435	c.26 others(446): Show c.2617_*2618insCAACCCCGGGAACCGCCTGCCCCCGCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC G	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1328		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977544	C C	CCCCGGGA others(428): Show CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCACCAACCCCGGGAACGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCGCGCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	422	0.0024	435	c.29 others(446): Show c.2969_*2970insCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCC GGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAAC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCACCAACCCCGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAAC CGCCTCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCGCGCA A	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1680		chr1	TogoVar
PNPLA7_chr9_137454952_137555402	137518738	C C	CCACTCCA others(428): Show CCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCCAC TCACTCCACTCTGTCCACTCCATCCCCCGTCACTCACTCCACTCTGCTCA CTCCATCCCCCACTCACTCGCTCCACTCTGTCCACTCCATCCCCCACTCA CTCACTCCACTCTGTCCACTCCATCCCCCACTCACTCACTCCACTCTGCT CACTCCATCCCCCACTCACTCATTCCACTCTGTCCACTCCATCCTCACTC ACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTCACTCCACTCTGT CCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCATCCCACAC TCACTCACTCCACTCTGTCCACTCCATCCCTCACTCACTCACTCCACTCT GTCCACTCCATCCCCACTCACTCACTCCACTCTGCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01361.hp2 HG01517.hp2 others(8): Show HG00735.hp2 HG01361.hp2 HG01517.hp2 HG02027.hp2 HG02040.hp2 HG02129.hp1 HG03139.hp1 HG03239.hp2 HG03486.hp1 HG03831.hp1 NA18944.hp2	a0002 a0008 a0002 a0008	a0002c0003 a0002c0004 a0002c0016 others(1): Show a0002c0003 a0002c0004 a0002c0016 a0008c0010	a0002c0003t0001 a0002c0003t0005 a0002c0004t0001 others(2): Show a0002c0003t0001 a0002c0003t0005 a0002c0004t0001 a0002c0016t0001 a0008c0010t0001	a0002c0003t0001g0041 a0002c0003t0001g0052 a0002c0003t0001g0068 others(8): Show a0002c0003t0001g0041 a0002c0003t0001g0052 a0002c0003t0001g0068 a0002c0003t0001g0072 a0002c0003t0001g0134 a0002c0003t0005g0186 a0002c0004t0001g0051 a0002c0016t0001g0100 a0002c0016t0001g0173 a0008c0010t0001g0116 a0008c0010t0001g0152	11	188	0.0585	435	c.108 others(454): Show c.1084+1178_1084+1179insAGCAGAGTGGAGTGAGTGAGTGGGGA TGGAGTGGACAGAGTGGAGTGAGTGAGTGAGGGATGGAGTGGACAGAGTG GAGTGAGTGAGTGTGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGG GATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGAGCAGAG TGGAGTGAGTGAGTGAGGATGGAGTGGACAGAGTGGAATGAGTGAGTGGG GGATGGAGTGAGCAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGGACAGA GTGGAGTGAGTGAGTGGGGGATGGAGTGGACAGAGTGGAGCGAGTGAGTG GGGGATGGAGTGAGCAGAGTGGAGTGAGTGACGGGGGATGGAGTGGACAG AGTGGAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGAGTGGGG GATGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137518738	C C	CCACTCCA others(428): Show CCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCCAC TCACTCCACTCTGTCCACTCCATCCCCCGTCACTCACTCCACTCTGCTCA CTCCATCCTCCACTCACTCGCTCCACTCTGTCCACTCCATCCCCCACTCA CTCACTCCACTCTGTCCACTCCATCCCCCACTCACTCACTCCACTCTGCT CACTCCATCCCCCACTCACTCATTCCACTCTGTCCACTCCATCCTCACTC ACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTCACTCCACTCTGT CCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCATCCCACAC TCACTCACTCCACTCTGTCCACTCCATCCCTCACTCACTCACTCCACTCT GTCCACTCCATCCCCACTCACTCACTCCACTCTGCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0001 a0002c0033t0001	a0002c0033t0001g0103 a0002c0033t0001g0103	1	188	0.0053	435	c.108 others(454): Show c.1084+1178_1084+1179insAGCAGAGTGGAGTGAGTGAGTGGGGA TGGAGTGGACAGAGTGGAGTGAGTGAGTGAGGGATGGAGTGGACAGAGTG GAGTGAGTGAGTGTGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGG GATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGAGCAGAG TGGAGTGAGTGAGTGAGGATGGAGTGGACAGAGTGGAATGAGTGAGTGGG GGATGGAGTGAGCAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGGACAGA GTGGAGTGAGTGAGTGGGGGATGGAGTGGACAGAGTGGAGCGAGTGAGTG GAGGATGGAGTGAGCAGAGTGGAGTGAGTGACGGGGGATGGAGTGGACAG AGTGGAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGAGTGGGG GATGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PRKN_chr6_161342417_162732766	162010624	A A	ATATATTA others(428): Show ATATATTATATAATATATATTATATAATATATTATATTATATATTATATA TTATATAATATATTATATTATATATAATATAATATATTATATTATATATA ATATAATATATTATATAATATATTATATATATTAATATTATATATTATAT AATATATTATATATATAATATAATATATTATATAATATATTATATATATT AATATTATATATTATATAATATATTATATATATTAATATTATATATTATA TAATATATTATATATATTAATATTATATATTATATAATATATTATATATA TTAATATTATATATTATATAATATATTATATATATTAATATTATATATTA TATAATATATTATATATATTAATATTATATATTATATAATATATTATATA TATTATACATTATATAATATATATTATATAGTATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0008 a0002c0002t0009g0008	1	32	0.0313	435	c.619 others(454): Show c.619-37208_619-37207insATATACTATATAATATATATTATATA ATGTATAATATATATAATATATTATATAATATATAATATTAATATATATA ATATATTATATAATATATAATATTAATATATATAATATATTATATAATAT ATAATATTAATATATATAATATATTATATAATATATAATATTAATATATA TAATATATTATATAATATATAATATTAATATATATAATATATTATATAAT ATATAATATTAATATATATAATATATTATATAATATATTATATTATATAT ATAATATATTATATAATATATAATATTAATATATATAATATATTATATAA TATATTATATTATATATAATATAATATATTATATTATATATAATATAATA TATTATATAATATATAATATATAATATAATATATTATATAATATATATTA TATAATATA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PRPF31_chr19_54110754_54136713	54133834	T T	TCCCTCTC others(428): Show TCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCTCCACCTTCCCTCTCTCCACCTCCCCTCCCTCTGTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCT CCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTC ACTCCACCTTCCCTCTCTCCACCTCCCCTCCCTCTCTCCACCTTCCCCTC TCTCCCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 NA19057.hp2 HG00423.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0102 a0001c0001t0001g0011 a0001c0001t0001g0102	2	227	0.0088	435	c.24 others(446): Show c.2402_*2403insCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTC TCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTCTCTCCACC TCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCC TCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCCACCTCCCCTCCCTCT CTCCACCTTCCCCTCTCTCCCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCT C	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2122		chr19	TogoVar
RASA3_chr13_113972783_114137623	114099797	C C	CCCCCCCA others(428): Show CCCCCCCACAGCCCCCCCACAGCCCCCCACAGCCCCCCCAGCAGCCCCCA CAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCGTAG CCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCC CACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCCACAG CCCCCCCAGCAGCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCC CACAGCAGCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCCAC AGCCCCCCCACAGCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCC CCCCACAGCCCCCCACAGCCCCCCCAGCAGCCCCCACAGCAGCCCCCCCA CAGCCCCCCCACAGCCCCCACAGCAGCCCCCCACAG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0030 a0001c0003t0003g0030	1	67	0.0149	435	c.56- others(452): Show c.56-25961_56-25960insCTGTGGGGGGCTGCTGTGGGGGCTGTGG GGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGCTGGGGGGGCTGTGGGGGG CTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGCTGTG GGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGG CTGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGC TGGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGG GGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGC TGTGGGGGCTACGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTGGGGG GGCTGCTGTGGGGGCTGCTGGGGGGGCTGTGGGGGGCTGTGGGGGGGCTG TGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(428): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0240 a0001c0010t0001g0240	1	276	0.0036	435	c.132 others(452): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RGPD5_chr2_109789305_109862705	109794573	A A	ACCCGGCC others(428): Show ACCCGGCCGGGGGGGGAGGGGGGGGGGCGGCGGCGGCGGCCTCGGCCCGG CCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCG GCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCC CGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCC GGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGC GGCGGCCTCGGCCCCGGCCCGGCCGGGGGGGGGCGGCGGCGGCGGCGGCG GCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCT CGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCCTC GGCCCGGCCGGGGGGCGGCGGCGGCCTCGGCCCCGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	40	0.0250	435	c.72+ others(446): Show c.72+49_72+50insGGAGGGGGGGGGGCGGCGGCGGCGGCCTCGGCCC GGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGG CGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGC CCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGG CCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCG GCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGGGGCGGCGGCGGCGGCGG CGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGC CTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCC TCGGCCCGGCCGGGGGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGG G	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RIN3_chr14_92508781_92693994	92547135	G G	GTAAATTA others(428): Show GTAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAAAATAAATTATCTTTATTTTATTATTATAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0207 a0008c0010t0001g0207	1	334	0.0030	435	c.45- others(450): Show c.45-8552_45-8551insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTATCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92547135	G G	GTAAATTA others(428): Show GTAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTT ATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAAAATAAATTATCTTTATTTTATTATTATAAAA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	334	0.0030	435	c.45- others(450): Show c.45-8552_45-8551insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92547135	G G	GTAAATTA others(428): Show GTAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTT ATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAAAATAAATTATCTTTATTTTATTATTATAAAA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	334	0.0030	435	c.45- others(450): Show c.45-8552_45-8551insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92547135	G G	GTAAATTA others(428): Show GTAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTT ATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTC TTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAAT AAATTGTCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAAAATAAATTATCTTTATTTTATTATTATAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0067 a0003c0003t0001g0067	1	334	0.0030	435	c.45- others(450): Show c.45-8552_45-8551insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TAATATAT others(428): Show TAATATATAATATATATAATATATAATATATAATATATAATATATAATAT ATATAATATATAATATATAATATATAATATATATAATATATAATATATAT TATATATAATATATATATTATATATAATATATATTATATATAATATAATA TATATAATATAATATATATATTATATATAATATATATTATATATTATATA TAATATATATTTATATATAATATATAAATATATATTATATATAATATATA ATATATAATTATATATTATATATTATATATAATATATATTTATATATAAT ATATAAATATAATTATATATTATATATAATATATATTTATATATTATATA TAATATATAAATATATATTATATATATTTAATATATATTTTATATATAAA TTATATATTATATATATTTAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0048	1	188	0.0053	435	c.193 others(454): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAT TTATATATTATATATAATATATAAATATATATTATATATAATATATAATT ATATTTATATATTATATATAAATATATATTATATATAATATATAATATAT AATTATATATTATATATTATATATAATATATATTTATATATTATATATAA ATATATATTATATATAATATATAATATATATTATATATAATATATATATT ATATTATATATATTATATTATATATAATATATATTATATATAATATATAT ATTATATATAATATATATTATATATTATATATATTATATATTATATATTA TATATTATATATATTATATATTATATATTATATATTATATATTATATATA TTATATATT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SEPTIN9_chr17_77276499_77505593	77484775	G G	GTGATTGT others(428): Show GTGATTGTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGT GGTGATTGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGA AGGGGGTGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGG GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTG GTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGGTGGTGAAGG GGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0055 a0003c0003t0055	a0003c0003t0055g0095 a0003c0003t0055g0095	1	150	0.0067	435	c.913 others(452): Show c.913+2442_913+2443insATTGTGATGGTTGTGATTGTGATGGTGG TGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATG CTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGTGAAGGG GGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGGTGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG GTGATTGTGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGG GGTGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484775	G G	GTGATTGT others(428): Show GTGATTGTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGT GGTGATTGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGA AGGGGGTGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGG GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTG GTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGGTGGTGAAGG GGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0043 a0003c0003t0043	a0003c0003t0043g0046 a0003c0003t0043g0046	1	158	0.0063	435	c.859 others(452): Show c.859+2442_859+2443insATTGTGATGGTTGTGATTGTGATGGTGG TGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATG CTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGTGAAGGG GGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGGTGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG GTGATTGTGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGG GGTGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH3TC1_chr4_8194290_8246103	8211384	G G	GGTTTCTC others(428): Show GGTTTCTCCCCTCTCCCTCCCTCTCCACCCTCCTCACCGTTGTCTCCCTT CTCCCTCCCTCTCCCCCTCCTGGTTTCTCCCCTCTCCCTCCCTCTCCACC CGCCCCCGCACCGTTTTCTCCCTTCTCCCTCCCTCTCCCCCTCCCGGTGT CTCCCCTCTCCCCCTCCTGGTTTCTCCCCTCTTCCTTCCTCTCCCCCTCC TGGTTTCTCCCCTCTTCCTTCCTCTCCCCCTCCCAGTTTCTCCCCTCTCC CTCCCTCTCCACCCTCCTCACCGTTGTCTCCCTTCTCCCTCCCTCTCCCC CTCCTGGTTTCTCCCCTCTCCCTCCCTCTCCACCCGCCCCCGCACCGTTT TCTCCCTTCTCCCTCCCTCTCCCCCTCCCGGTGTCTCCCCTCTCCCCCTC CTGGTTTCTCCCCTCTTCCTTCCTCTCCCCCTCCCA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0115 a0001c0008t0002g0115	1	374	0.0027	435	c.248 others(452): Show c.248-1304_248-1303insCCCTCCCTCTCCACCCTCCTCACCGTTG TCTCCCTTCTCCCTCCCTCTCCCCCTCCTGGTTTCTCCCCTCTCCCTCCC TCTCCACCCGCCCCCGCACCGTTTTCTCCCTTCTCCCTCCCTCTCCCCCT CCCGGTGTCTCCCCTCTCCCCCTCCTGGTTTCTCCCCTCTTCCTTCCTCT CCCCCTCCTGGTTTCTCCCCTCTTCCTTCCTCTCCCCCTCCCAGTTTCTC CCCTCTCCCTCCCTCTCCACCCTCCTCACCGTTGTCTCCCTTCTCCCTCC CTCTCCCCCTCCTGGTTTCTCCCCTCTCCCTCCCTCTCCACCCGCCCCCG CACCGTTTTCTCCCTTCTCCCTCCCTCTCCCCCTCCCGGTGTCTCCCCTC TCCCCCTCCTGGTTTCTCCCCTCTTCCTTCCTCTCCCCCTCCCAGTTTCT CCCCTCT	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SKI_chr1_2223319_2315213	2280893	C C	CGATCTTC others(428): Show CGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTT CAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAG AGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGC GGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAG AGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGA TGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTC AGAGAGAAGACACGTGAGAAGACAGGTGGTGGCGGA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	330	0.0030	435	c.970 others(454): Show c.970-22072_970-22071insCGGACGCCCGAGAGGACAGGCGGCGG CGGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGAT CTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATA GAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGT GGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAG ATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCA GAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA GAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGC GGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGTGGTGGCGGAGATC TTCAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281948	C C	CCGAGAAG others(428): Show CCGAGAAGACATGCGGCGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAG GACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGC GGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCG GAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCT TCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA GAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCATAGAGAGGT GGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAG ATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCA TAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0043 a0001c0001t0080g0043	1	330	0.0030	435	c.970 others(454): Show c.970-21030_970-21029insCGAGAAGACATGCGGCGGCGGAGATC TTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAG AGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGAC GCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAG AGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAG GCGGTGGCGGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGGTGGT GGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACG TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA GAAGACACG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245798398	A A	ACACACCA others(428): Show ACACACCACACATACACACACACACATACACACACAAACACACACACATA CACACCACACACACATACCCACACACACACATACATACACACCACACACC CCCACACACATACACACACACAAAAATACACATACACACAAACACACAAA TACACACATACACACAAAAATACACATACACACAAACACACAAATACACA CACAGAAATACACATACATACACACACACACACCCACATACCCACACACA TACCCACACACCCACAAACACACATACACACACACACAAATACACACACA TACATAACACACCCACACACATACACACACACAATACACATACACACAAA CACACACATACACATACAAAAATACACACATACACACACACAAATACACA CATACACACACATACCCACACACACATACACACACT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02109.hp1 HG02145.hp1 others(10): Show HG01433.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02895.hp2 HG02970.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 NA19030.hp2 NA20129.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0002c0003 others(3): Show a0001c0001 a0001c0006 a0002c0003 a0002c0004 a0002c0005 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0006t0003 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0004c0010t0001	a0001c0001t0001g0018 a0001c0001t0002g0023 a0001c0006t0001g0076 others(10): Show a0001c0001t0001g0018 a0001c0001t0002g0023 a0001c0006t0001g0076 a0001c0006t0003g0001 a0002c0003t0001g0112 a0002c0003t0002g0116 a0002c0003t0002g0150 a0002c0004t0001g0117 a0002c0004t0001g0126 a0002c0004t0001g0149 a0002c0005t0001g0138 a0002c0005t0001g0146 a0004c0010t0001g0031	13	150	0.0867	435	c.107 others(456): Show c.1077-34250_1077-34249insAGTGTGTGTATGTGTGTGTGGGTA TGTGTGTGTATGTGTGTATTTGTGTGTGTGTATGTGTGTATTTTTGTATG TGTATGTGTGTGTTTGTGTGTATGTGTATTGTGTGTGTGTATGTGTGTGG GTGTGTTATGTATGTGTGTGTATTTGTGTGTGTGTGTATGTGTGTTTGTG GGTGTGTGGGTATGTGTGTGGGTATGTGGGTGTGTGTGTGTGTATGTATG TGTATTTCTGTGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTG TGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTGTGTGTG TATGTGTGTGGGGGTGTGTGGTGTGTATGTATGTGTGTGTGTGGGTATGT GTGTGTGGTGTGTATGTGTGTGTGTTTGTGTGTGTATGTGTGTGTGTGTA TGTGTGGTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245798398	A A	ACACACCA others(428): Show ACACACCACACATACACACACACACATACACACACAAACACACACACATA CACACCACACACACATACCCACACACACACATACATACACACCACACACC CCCACACACATACACACACACAAAAATACACATACACACAAACACACAAA TACACACATACACACAAAAATACACATACACACAAACACACAAATACACA CACAGAAATACACATACATACACACACACACACCCACATACCCACACACA TACCCACACACCCACACACATACACACACACACAAATACACACACATACA TAACACACCCACACACATACACACACACAATACACATACACACAAACACA CACATACACATACAAAAATACACACATACACACACACAAATACACACATA CACACACATACCCACACACACATACACACACATACT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0049 a0001c0011t0002g0049	1	150	0.0067	435	c.107 others(456): Show c.1077-34250_1077-34249insAGTATGTGTGTGTATGTGTGTGTG GGTATGTGTGTGTATGTGTGTATTTGTGTGTGTGTATGTGTGTATTTTTG TATGTGTATGTGTGTGTTTGTGTGTATGTGTATTGTGTGTGTGTATGTGT GTGGGTGTGTTATGTATGTGTGTGTATTTGTGTGTGTGTGTATGTGTGTG GGTGTGTGGGTATGTGTGTGGGTATGTGGGTGTGTGTGTGTGTATGTATG TGTATTTCTGTGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTG TGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTGTGTGTG TATGTGTGTGGGGGTGTGTGGTGTGTATGTATGTGTGTGTGTGGGTATGT GTGTGTGGTGTGTATGTGTGTGTGTTTGTGTGTGTATGTGTGTGTGTGTA TGTGTGGTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SPATA13_chr13_24155720_24312069	24190169	T T	TATCATTA others(428): Show TATCATTATATAACATATAATGATATATAATATATATCATTATATAACAT ATAATGATATATAATATATATCATTATATAACATATAATGATATATAATA TATATCATTATATAACATATAATGATATATAATATATATCATTATATAAC ATATAATGATATATAATATATATCATTATATAACATATAATGATATATAA TATATATCATTATATAACATATAATGATATATAATATATATCATTATATA ACATATAATGATATATAATATATATCATTATATAACATATAATGATATAT AATATATATCATTATATAACATATAATGATATATAATATATATCATTATA TAACATATAATGATATATAATATATATCATTATATAACATATAATGATAT ATAATATATATCATATAACATATGATACATAATATA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18990.hp1 NA18947.hp2 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0115 a0001c0002t0051 a0001c0002t0115	a0001c0002t0051g0247 a0001c0002t0115g0246 a0001c0002t0051g0247 a0001c0002t0115g0246	2	356	0.0056	435	c.-11 others(456): Show c.-112+29237_-112+29238insATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATATAACATATGA TACATAATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12			chr13	TogoVar
SPOCK3_chr4_166728384_167239494	167109048	A A	AAAAATAT others(428): Show AAAAATATATATAAATATATATTTATATAAAAATATATATAAATATATAT TTATATAAAAATATATATAAATATATATTTATATAAAAATATATATAAAT ATATATTTATATAAAAATATATATAAATATATATTTATATAAAAATATAT ATAAATATATATTTATATAAAAATATATATAAATATATATTTATATATAA ATATATATAAATATATATTTATATATAAATATATATAAATATATATTTAT ATAAAAATATATATAAATATTATATATTTATATAAAAATATATATAAATA TTATATATTTATATAAAAATATATATAAATATTATATATTTATATAAAAA TATATATAAATATTATATATTTATATAAAATATATATAAATATTATATAT TTATATAAAATATATATAAATATTATATATTTATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	144	0.0069	435	c.190 others(454): Show c.190-46512_190-46511insATATAAATATATAATATTTATATATA TTTTATATAAATATATAATATTTATATATATTTTATATAAATATATAATA TTTATATATATTTTTATATAAATATATAATATTTATATATATTTTTATAT AAATATATAATATTTATATATATTTTTATATAAATATATAATATTTATAT ATATTTTTATATAAATATATATTTATATATATTTATATATAAATATATAT TTATATATATTTATATATAAATATATATTTATATATATTTTTATATAAAT ATATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTAT ATAAATATATATTTATATATATTTTTATATAAATATATATTTATATATAT TTTTATATAAATATATATTTATATATATTTTTATATAAATATATATTTAT ATATATTTT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPPL2B_chr19_2323684_2360095	2349340	C C	CTCTCCAC others(428): Show CTCTCCACACACACGCACTCTTATTCGCCTGATTCCGTTCTCTCTCTCTC CACACACTCACGCACTCTTATTCGCCTGATTCCGTTCTCTCTCTCCACAC ACACTCACGCGCTCTCATTCGCTTGATTCCGTTCTCTCCCTCCACACAAC ACTCGCGTTCTCATTCGCGTGATTCCGTTCTCTCTCCACACACACTCACG CGCTCTCATTCGCTCGATTCCGTTCTCTCTCCACACGCGCTCTCATTCGC TCGATTCCGTTCTCTCCACACACACTCACGCGCTGTCATTCGCTTGATTC CGTTCTCTCTCCACACACACTCACGCTCTCATTCGCTTGATTCCGTTCTC TCCCTCCACACACACTCACGTTCTCATTCATGTGATTCCGTTCTCTCTCC ACACACACTCACGCGCTCTCATTCGCTTGATTCCGT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02735.hp1 NA18954.hp1 HG02027.hp2 HG02735.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0268 a0001c0001t0002g0295 a0001c0001t0002g0253 a0001c0001t0002g0268 a0001c0001t0002g0295	3	414	0.0073	435	c.135 others(454): Show c.1355-2090_1355-2089insCACACACACGCACTCTTATTCGCCTG ATTCCGTTCTCTCTCTCTCCACACACTCACGCACTCTTATTCGCCTGATT CCGTTCTCTCTCTCCACACACACTCACGCGCTCTCATTCGCTTGATTCCG TTCTCTCCCTCCACACAACACTCGCGTTCTCATTCGCGTGATTCCGTTCT CTCTCCACACACACTCACGCGCTCTCATTCGCTCGATTCCGTTCTCTCTC CACACGCGCTCTCATTCGCTCGATTCCGTTCTCTCCACACACACTCACGC GCTGTCATTCGCTTGATTCCGTTCTCTCTCCACACACACTCACGCTCTCA TTCGCTTGATTCCGTTCTCTCCCTCCACACACACTCACGTTCTCATTCAT GTGATTCCGTTCTCTCTCCACACACACTCACGCGCTCTCATTCGCTTGAT TCCGTTCTC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SRXN1_chr20_641615_658200	642169	G G	GGGCCCAG others(428): Show GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0098 a0001c0001t0004g0098	1	422	0.0024	435	c.65 others(446): Show c.6544_*6545insACCACAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGG CAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGG CAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGC C	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4445		chr20	TogoVar
SRXN1_chr20_641615_658200	642182	G G	GGGGGTGG others(428): Show GGGGGTGGAGTTGCCTGGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCTGGGGGG GGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCG GGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGTGGA GTTGCCTGTGGTGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCC CAGCGGGGTGGAGTTGCCTGTGGGGGGGGCCCAGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	422	0.0024	435	c.65 others(446): Show c.6531_*6532insTGCTGGGCCCCCCCCACAGGCAACTCCACCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCACCACAGGCA ACTCCACCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCAC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGG CCCCCCCCAGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCCAGGCAACTCCACCC C	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4432		chr20	TogoVar
ST3GAL3_chr1_43702536_43936159	43905401	T T	TCTGCTCC others(428): Show TCTGCTCCTCTTCCTGCCACTTTTCCTCCCCCTCCTCCTGCTCCTCTTCC CGCCACTGTTTCTCCCCCTCCTTCTGCCCCCCTTCCCACCACTCTTCCTC CCCCTCCTCCTGTTCCCCTTCCTGCCACTCTTCCTCCCCCTCCTCCTGCT CCTCTTCCTGCCACTCTTCCCCTGCCACTTTTCCTTCCCCTCTTCCTGTT TCTCTTCCTACCACTCTTCTTTCTCCTCCTCCTGTTCCTCTTCCTCCCCA TCCTCCTGTTTCCTTTCCCGCCACTTTTCTTCACCTCCTCCTGTTCCTCT TCCCACCACTCTTCCCCCTCCTCCTCCTGCTCCTCTCCCACCACTCTCCC CTCTCCTCCTCCTGCTCCCCTTCCCGCCACTCTTCCCCCTCCTCCTTCTG TTCCTCTTCCCGCCACTCTTCCTCCCCCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	274	0.0037	435	c.744 others(452): Show c.744+5707_744+5708insCTCCTGCTCCTCTTCCCGCCACTGTTTC TCCCCCTCCTTCTGCCCCCCTTCCCACCACTCTTCCTCCCCCTCCTCCTG TTCCCCTTCCTGCCACTCTTCCTCCCCCTCCTCCTGCTCCTCTTCCTGCC ACTCTTCCCCTGCCACTTTTCCTTCCCCTCTTCCTGTTTCTCTTCCTACC ACTCTTCTTTCTCCTCCTCCTGTTCCTCTTCCTCCCCATCCTCCTGTTTC CTTTCCCGCCACTTTTCTTCACCTCCTCCTGTTCCTCTTCCCACCACTCT TCCCCCTCCTCCTCCTGCTCCTCTCCCACCACTCTCCCCTCTCCTCCTCC TGCTCCCCTTCCCGCCACTCTTCCCCCTCCTCCTTCTGTTCCTCTTCCCG CCACTCTTCCTCCCCCTCCCCCTCCTGCTCCTCTTCCTGCCACTTTTCCT CCCCCTC	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC6_chr9_127880321_127904603	127882566	G G	GGAAAGGA others(428): Show GGAAAGGAAAGAAGGGAAAGGAAGGGAAGGGAAGCGGGGGGAGGGGAGGA GAGGGGAGGGAAGGGGGGGGGAAGAAGGGGAGGGGAAGAAGGGGAAGGGA AGAAGGGAAGAAGGGAAGGGAAGAGGGAAGGGAAGAGGGGAAGGGAACAA GGGAAGGAAAGAAGGGAAGGGAAGAAGGGAAGGGAAGGAAAGGAAAGGGA AGAGGGCGAGGGAAGGGAAGGAAAGAGGGGGAGGGAAGGGGGAAGAGGGG GAGGGAAGAGAGGGAGGGAAGAGGGGAAGGGAAAAAAGGAAGAGAAGAAG GGAAGGGAAGAAGGAAAGAAGGGAAGGGAAGAAAGGAAGGGAAGAAGGGA AGGGAAGGAGGGAAGGGAAGGGAAGAAAGGAAGGGAAGAGAAGAAGGGAA GAAAAGAAGGGAAGGGAAGAAAGGAAGGGAAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	360	0.0028	435	c.40 others(446): Show c.4032_*4033insTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTT TCTTCCCTTCTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCCCTCCTTCC CTTCCCTTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTTCCTTCTTCCCTT CCCTTCTTCTCTTCCTTTTTTCCCTTCCCCTCTTCCCTCCCTCTCTTCCC TCCCCCTCTTCCCCCTTCCCTCCCCCTCTTTCCTTCCCTTCCCTCGCCCT CTTCCCTTTCCTTTCCTTCCCTTCCCTTCTTCCCTTCCCTTCTTTCCTTC CCTTGTTCCCTTCCCCTCTTCCCTTCCCTCTTCCCTTCCCTTCTTCCCTT CTTCCCTTCCCCTTCTTCCCCTCCCCTTCTTCCCCCCCCCTTCCCTCCCC TCTCCTCCCCTCCCCCCGCTTCCCTTCCCTTCCTTTCCCTTCTTTCCTTT C	ST6GALNAC6	ENSG00000160408.16	transcript	ENST00000373146.6	protein_coding		2754		chr9	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TTATATAT others(428): Show TTATATATTATATAACTATATATTATATATAATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATAATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATAATATAACTATATATTATATATAA TATATATATTATATATAATATAACTATATATTATATATAATATATATATT ATATATAATATAACTATATATTATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0191 a0001c0001t0016g0191	1	268	0.0037	435	c.73 others(446): Show c.7318_*7319insTATATATTATATAACTATATATTATATATAATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TAATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATAATATAACT ATATATTATATATAATATATATATTATATATAATATAACTATATATTATA TATAATATATATATTATATATAATATAACTATATATTATATATAATATAT A	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
TAF4_chr20_61969798_62070881	61982228	A A	ACCCCAGA others(428): Show ACCCCAGAGGAGACACCAAACTCACACCCCACCCGAGAGGAGACACCAAA CCCACACCCACCTGAGAGGAAACACCAAACCCACAACCCACCGGAGAGGA GACACCAAAACCCACACAACCCACATCCACCCGAGAGGAGACACCCAACC TATACCCCACCAGAGAGGAGACACCAAACCCATACCCCACGAGAGAGGAG ACACCAAACCCATACCCCACCAGAGACGAGACACCAAAACCCACACAACC GACACCCACCCAAGAGGAGACACCAAACCCACACCCACCTGAGAGGAAAC ACCAAACCCACACCCACCTGAGAGGAAAACACCAAACCCACACCCACCTG AGAGGAAACACCAAACCCACACCCTACCAGAGAGGAGACACCAAAACCCA CATCCACCTGAGAGGAGACACCAAACCCACACCCAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	314	0.0032	435	c.309 others(454): Show c.3091-5894_3091-5893insGTGGGTGTGGGTTTGGTGTCTCCTCT CAGGTGGATGTGGGTTTTGGTGTCTCCTCTCTGGTAGGGTGTGGGTTTGG TGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTTTTCCTCTCAGGTGGGTG TGGGTTTGGTGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTCTCCTCTTG GGTGGGTGTCGGTTGTGTGGGTTTTGGTGTCTCGTCTCTGGTGGGGTATG GGTTTGGTGTCTCCTCTCTCGTGGGGTATGGGTTTGGTGTCTCCTCTCTG GTGGGGTATAGGTTGGGTGTCTCCTCTCGGGTGGATGTGGGTTGTGTGGG TTTTGGTGTCTCCTCTCCGGTGGGTTGTGGGTTTGGTGTTTCCTCTCAGG TGGGTGTGGGTTTGGTGTCTCCTCTCGGGTGGGGTGTGAGTTTGGTGTCT CCTCTGGGG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TCEA3_chr1_23375909_23429748	23392405	T T	TCATACAC others(428): Show TCATACACACACACTCCACACATCATACACACACACTCCACACATCATAC ACACACACTCCACACATCATACATAAAACACACTCCACACATCATACACA CCACACACACTCCACACATCGTACACAAAACACACTCCACACATCATACA CAAAACACACTCCACACATCATACACACCACATACACTCCACACATCATA CACACACACTCCACACATCATACACACACACTCCACACGTCATACACACA CACACACTCCACACATCATACACAATACACACTCCACACATCATACACAA TACACACTCCACACATCATACACACACACTCCACACATCATACACAATAC ACACTCCACACATCATACACAAAACACACTCCACACATCATACACACACA CTCCACACATCATGCACAATACACACACACTCCACA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00438.hp1 others(117): Show HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18941.hp1 NA18946.hp2 NA18947.hp2 NA18954.hp2 NA18962.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18978.hp2 NA18980.hp1 NA18984.hp1 NA18986.hp2 NA18990.hp2 NA19009.hp2 NA19030.hp2 NA19043.hp2 NA19063.hp2 NA19064.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19084.hp1 NA19085.hp2 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0039 others(112): Show a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0113 a0001c0001t0001g0156 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0167 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0314 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0332 a0001c0001t0002g0335 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0342 a0001c0001t0002g0348 a0001c0001t0002g0353 a0001c0001t0003g0018 a0001c0001t0003g0196 a0001c0001t0003g0215 a0001c0001t0003g0220 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0259 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0304 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0334 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0003g0346 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0004g0063 a0001c0001t0004g0107 a0001c0001t0004g0111 a0001c0001t0004g0123 a0001c0001t0005g0012 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0347 a0001c0001t0005g0352	120	378	0.3175	435	c.819 others(452): Show c.819+1473_819+1474insTGTGGAGTGTGTGTGTATTGTGCATGAT GTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTGTTTTGTGTATGATGTG TGGAGTGTGTATTGTGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGG AGTGTGTATTGTGTATGATGTGTGGAGTGTGTATTGTGTATGATGTGTGG AGTGTGTGTGTGTGTATGACGTGTGGAGTGTGTGTGTATGATGTGTGGAG TGTGTGTGTATGATGTGTGGAGTGTATGTGGTGTGTATGATGTGTGGAGT GTGTTTTGTGTATGATGTGTGGAGTGTGTTTTGTGTACGATGTGTGGAGT GTGTGTGGTGTGTATGATGTGTGGAGTGTGTTTTATGTATGATGTGTGGA GTGTGTGTGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTGT GTGTATG	TCEA3	ENSG00000204219.11	transcript	ENST00000450454.7	protein_coding	8/10			chr1	TogoVar
TCF3_chr19_1604292_1657615	1628016	G G	GGGGATGA others(428): Show GGGGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAG GGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC GGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGGTGGGGCGGGAA GGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCA CGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTC ACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGA AGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTC ACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCAC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18948.hp1 NA18944.hp2 NA18948.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0019 a0002c0001t0006 a0002c0001t0019	a0002c0001t0006g0055 a0002c0001t0019g0056 a0002c0001t0006g0055 a0002c0001t0019g0056	2	352	0.0057	435	c.299 others(450): Show c.299-591_299-590insGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTG TCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTC ACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCT GTCCCCTTCCCGCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTC ACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGC TGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTC ATCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628118	C C	CGGGGGTG others(428): Show CGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTC ACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGA AGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTC ACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCT CACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGG GAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAAC TCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCA	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0034 a0002c0001t0034	a0002c0001t0034g0309 a0002c0001t0034g0309	1	352	0.0028	435	c.299 others(450): Show c.299-693_299-692insTGAGCTCTGCTGTCCCCTTCCCACCTCACC CCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTC CCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTG TCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCA CCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTG TCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCA CCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTG TCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCA CCCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TPK1_chr7_144446941_144841053	144780558	T T	TATATTAT others(428): Show TATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATA TAGTATATTATATTATATAGTATATAATATATATTATATTATATAGTATA TTATATTATATTATATAGTATATTATATTATATTATATAGTATATAATAT AGTATATTATATTATATAGTATATAATATAGTATATTATATTATATAGTA TATAATATAGTATATTATATTATATAGTATATAATATAGTATATTATATT ATATAGTATATAATATAGTATATTATATTATATAGTATATAATATAGTAT ATTATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAA TATAGTATATTATATTATATAGTATATAATATAGTATATTATATTATATA GTATATAATATAGTATATTATATTATATAGTATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0035	1	118	0.0085	435	c.44- others(452): Show c.44-14608_44-14607insTATATACTATATAATATAATATACTATA TTATATACTATATAATATAATATACTATATTATATACTATATAATATAAT ATACTATATTATATACTATATAATATAATATACTATATTATATACTATAT AATATAATATACTATATTATATACTATATAATATAATATACTATATTATA TACTATATAATATAATATACTATATTATATACTATATAATATAATATACT ATATTATATACTATATAATATAATATACTATATTATATACTATATAATAT AATATACTATATTATATACTATATAATATAATATAATATACTATATAATA TAATATAATATACTATATAATATAATATATATTATATACTATATAATATA ATATACTATATTATATACTATATAATATAATATACTATATTATATACTAT ATAATAT	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
TRARG1_chr17_1274662_1305978	1276785	T T	TCAAAAAA others(428): Show TCAAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGA GTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAA GTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGT TTTTTTTGTTTTTTGTTTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCC CAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGC CAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACA GGTGCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAGAGGG CATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCT GCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03710.hp2 HG03017.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0112 a0001c0001t0006g0113 a0001c0001t0001g0112 a0001c0001t0006g0113	2	402	0.0050	435	c.-32 others(446): Show c.-3217_-3216insCAAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCT GTTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCA AACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCT GGCTTGAAACCCAGTTTTTTTTGTTTTTTGTTTTTTTTTTTGAGACAAAG TCTCTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACT GCAACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTAT TTTTAGTAGAGAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTC CTGGCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAG G	TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding		2876		chr17	TogoVar
TRARG1_chr17_1274662_1305978	1276785	T T	TCAAAAAA others(428): Show TCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGAG TGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAAG TGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGTT TTTTTTTTGTTTTTTGTTTTTTTTTTGAGACAAAGTCTCTCTCTGTCACC CAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGC CAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACA GGTGCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGG CATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCT GCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0232 a0003c0003t0009g0232	1	402	0.0025	435	c.-32 others(446): Show c.-3217_-3216insCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTG TTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAA ACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTG GCTTGAAACCCAGTTTTTTTTTTGTTTTTTGTTTTTTTTTTGAGACAAAG TCTCTCTCTGTCACCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACT GCAACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTAT TTTTAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTC CTGGCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAG G	TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding		2876		chr17	TogoVar

Search by Variant

Search

Search Results