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
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(768): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGCTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATTG GTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGG ATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGG TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	376	0.0027	775	c.666 others(792): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC AATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCA ACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATCC ATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CAACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCA ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCC ATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAGCCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(768): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGG ATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGA TGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG TTGGATGGATGGATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGG ATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0200 a0001c0001t0004g0200	1	376	0.0027	775	c.666 others(792): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCA ACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCCTCCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCC ATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATC CATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(768): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGG ATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGA TGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGG ATGGATGGATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGG TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGG ATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	376	0.0027	775	c.666 others(792): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC AATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCA ACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCC ATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATC CATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(768): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGG ATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGA TGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG TTGGATGGATGGATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATG GATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGG ATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	376	0.0027	775	c.666 others(792): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAA CCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCA TCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCCTCCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(768): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGG ATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGA TGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG TTGGATGGATGGATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGG ATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0021 a0002c0003t0021	a0002c0003t0021g0340 a0002c0003t0021g0340	1	376	0.0027	775	c.666 others(792): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCA ACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCCTCCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCC ATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(768): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGGAACCAA TACATACATGGAACATATATATGTGGAACCAATACATACATGGAACATAT ATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACA TATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATCTGGAACCAATA CATATACGGAACATATATATCTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0009	1	323	0.0031	775	c.-36 others(786): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGGAACCAATACATACATGGAACATATATATGTGGAACCAATAC ATACATGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATA TATCTGGAACCAATACATATACGGAACATATATATCTGGAACCAATACAT ATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATG TGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATAC GGAACATATATATGTGGAACCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(768): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGGAACCAA TACATACATGGAACATATATATGTGGAACCAATACATATACGGAACATAT ATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACA TATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATACGGAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	323	0.0031	775	c.-36 others(786): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGGAACCAATACATACATGGAACATATATATGTGGAACCAATAC ATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATA TATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACAT ATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATG TGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATAC GGAACATATATATGTGGAACCAATACATATACGGAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322434	A A	ATATGGAA others(768): Show ATATGGAATATATATATGGAATATATATGTGGAATATATATATGGAATAT ATATATATGTGGAATATATATATGGAATATATATATATGTGGAATATATA TATGGAATATATATATATGTGGAATATATATATGGAATATATATATGGAA TATATACATGGAATATATGTATATGGAATATATACATGGAATATGTGTAT ATGGAATATATACATGGAATATGTGTATATGGAATATATACATGGAATAT ATATATGGAATATATACATGGAATATATATATGGAATATATACATGGAAT ATATATATATGGAATATATACATGGAATATATATATGGAATATATACATG GAATATATATATATGGAATATATACATGGAATATATATATATGGAATATA TACATGGAATATATATATATAGAATATATACATGGAATATATACATGGAA TATATACATGGAATATATATATATGGAATATATACATGGAACATATACAT GGAATATATACATGGAACATATACATGGAATATATACATGGAACATATAC ATGGAATATATATATATGGAACATATACGGAATATATATATGGAATATAT ATACGGAATATATATATATGGAATATATATACGGAATATATATATGGAAT ATATATACGGAATATATATATATGGAATATATATACGGAATATATATATA TGGAATATATATACGGAATATATATATGGAATATATATACGGAATATGTA TATGGAATATATATATATGGAATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	1	323	0.0031	775	c.-26 others(786): Show c.-2622_-2621insTATGGAATATATATATGGAATATATATGTGGAAT ATATATATGGAATATATATATATGTGGAATATATATATGGAATATATATA TATGTGGAATATATATATGGAATATATATATATGTGGAATATATATATGG AATATATATATGGAATATATACATGGAATATATGTATATGGAATATATAC ATGGAATATGTGTATATGGAATATATACATGGAATATGTGTATATGGAAT ATATACATGGAATATATATATGGAATATATACATGGAATATATATATGGA ATATATACATGGAATATATATATATGGAATATATACATGGAATATATATA TGGAATATATACATGGAATATATATATATGGAATATATACATGGAATATA TATATATGGAATATATACATGGAATATATATATATAGAATATATACATGG AATATATACATGGAATATATACATGGAATATATATATATGGAATATATAC ATGGAACATATACATGGAATATATACATGGAACATATACATGGAATATAT ACATGGAACATATACATGGAATATATATATATGGAACATATACGGAATAT ATATATGGAATATATATACGGAATATATATATATGGAATATATATACGGA ATATATATATGGAATATATATACGGAATATATATATATGGAATATATATA CGGAATATATATATATGGAATATATATACGGAATATATATATGGAATATA TATACGGAATATGTATATGGAATATATATATATGGAATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2535		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323156	A A	ACGTATGG others(768): Show ACGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGA ATATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATA TATATATGGAATATACGTATGGAATATATATATATGGAATATACGTATGG AATATATATATATGGAATATACGTATGGAATATATATATATGGAATATAT ATGTATGGAATATATATATGGAATATATATGTATGGAATATATATATGGA ATATATATGTATGGAATATATATATGGAATATATATATATGGAATATATA TGTATGGAATATATATGTATGGAATATATATATGGAATATATATGTATGG AATATATATATGGAATATATATGTATGGAATATATATATGGAATATATAT ATGGAATATATATGTATGGAATATATATATGGAATATATATGTATGGAAT ATACATATGGAATATATATGTATGGAATATACATATGGAATATATATGTA TGGAATATACATATATGGAATATATATGTATGGAATATATATATATGGAA TATATGTATGGAATATATATATGGAATATATGTATGGAATATATATATAT GGAATATATGTATGGAATATATATATATGGAATATATGTATGGAATATAT ATATATGGAATATATGTATGGAATATATATATATGGAATATATGTATGGA ATATATATATGGAATATATGTATATGGAATATATATATGGAATATATGTA TATGGAATATATATATGGAATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0197 a0002c0002t0002g0197	1	323	0.0031	775	c.-19 others(786): Show c.-1900_-1899insCGTATGGAATATATATATGGAATATATACGTATG GAATATATATATGGAATATATACGTATGGAATATATATATGGAATATATA CGTATGGAATATATATATATATGGAATATACGTATGGAATATATATATAT GGAATATACGTATGGAATATATATATATGGAATATACGTATGGAATATAT ATATATGGAATATATATGTATGGAATATATATATGGAATATATATGTATG GAATATATATATGGAATATATATGTATGGAATATATATATGGAATATATA TATATGGAATATATATGTATGGAATATATATGTATGGAATATATATATGG AATATATATGTATGGAATATATATATGGAATATATATGTATGGAATATAT ATATGGAATATATATATGGAATATATATGTATGGAATATATATATGGAAT ATATATGTATGGAATATACATATGGAATATATATGTATGGAATATACATA TGGAATATATATGTATGGAATATACATATATGGAATATATATGTATGGAA TATATATATATGGAATATATGTATGGAATATATATATGGAATATATGTAT GGAATATATATATATGGAATATATGTATGGAATATATATATATGGAATAT ATGTATGGAATATATATATATGGAATATATGTATGGAATATATATATATG GAATATATGTATGGAATATATATATGGAATATATGTATATGGAATATATA TATGGAATATATGTATATGGAATATATATATGGAATATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1813		chr21	TogoVar
JAKMIP3_chr10_132060946_132189858	132159745	G G	GGGGGGGT others(768): Show GGGGGGGTCTCTCCCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTGATG CTCAGGGGGCCTCTCCCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTGA TGCTGGGGGGCCTCTCGCTGTGTGATGCTGGGGGCATGTCTTCCTGTGTG ATACTGGGGGGGCCTCTTCCTGTGTGATGCTGGGGGGCCTCTTCCTGTGT GATGCTGCGGGGGGGTCTATTCCTGTGTCTTACTGGGGGGGCCTCTCCCT GTGTGATGCTGGGGAGCCTCTTCCAGTGTGATGCTGGGGGGGTCTCTTCC TGTGTGATGCTGGGGGGCCTCTCGCTGTGTGATGCTGGGGGGCCTCTCCC TGTGTGATGCTGGGGGAGTCTCTTCCTGTGTGATGCTGGGGGGGCCTCTC CCTGTGTGATGCTGGGGGGCCTCTCCCTGTGTGATGCTGGGGGGCCTCTC CCTGTGTGATGCTGGGGGAGTCTCTTCCTGTGTGATGCTGGGGGGGCCTC TCCCTGTGTGATGCTGGGGGGGCCTCTCCCTGTGTGATGCTGGGGGCGTG TCTTCCTGTGTGATGCTGGGGGGGTCTCTCCCTGTGTGATGCTGGGGGGG TCTCCCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTGATGCTGGGGGGC CTCTCGCTGTGTGATGCTGGGGAGGGTCTATTCCTGTGTGACGCTGGGGG CGTGTCTTCCTGTGTGATGCTGGGGGGGCCTCTTCCTGTGTGATGCTGGG GAGGGTCTATTCCTGTGTCTTATTGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0009 a0002c0010t0009	a0002c0010t0009g0087 a0002c0010t0009g0087	1	158	0.0063	775	c.222 others(794): Show c.2221-3459_2221-3458insGTCTCTCCCTGTGTGATGCTGGGGGC GTGTCTTCCTGTGTGATGCTCAGGGGGCCTCTCCCTGTGTGATGCTGGGG GCGTGTCTTCCTGTGTGATGCTGGGGGGCCTCTCGCTGTGTGATGCTGGG GGCATGTCTTCCTGTGTGATACTGGGGGGGCCTCTTCCTGTGTGATGCTG GGGGGCCTCTTCCTGTGTGATGCTGCGGGGGGGTCTATTCCTGTGTCTTA CTGGGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCAGTGTGAT GCTGGGGGGGTCTCTTCCTGTGTGATGCTGGGGGGCCTCTCGCTGTGTGA TGCTGGGGGGCCTCTCCCTGTGTGATGCTGGGGGAGTCTCTTCCTGTGTG ATGCTGGGGGGGCCTCTCCCTGTGTGATGCTGGGGGGCCTCTCCCTGTGT GATGCTGGGGGGCCTCTCCCTGTGTGATGCTGGGGGAGTCTCTTCCTGTG TGATGCTGGGGGGGCCTCTCCCTGTGTGATGCTGGGGGGGCCTCTCCCTG TGTGATGCTGGGGGCGTGTCTTCCTGTGTGATGCTGGGGGGGTCTCTCCC TGTGTGATGCTGGGGGGGTCTCCCTGTGTGATGCTGGGGGCGTGTCTTCC TGTGTGATGCTGGGGGGCCTCTCGCTGTGTGATGCTGGGGAGGGTCTATT CCTGTGTGACGCTGGGGGCGTGTCTTCCTGTGTGATGCTGGGGGGGCCTC TTCCTGTGTGATGCTGGGGAGGGTCTATTCCTGTGTCTTATTGAGGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA0930_chr22_45187244_45245894	45229322	C C	CCCACCAC others(768): Show CCCACCACCACTCACCTGAAAGATCCCTCTCCACCCCCCCACCACTAAAC ACTCACCCGAAAGATCCCTCTCCATGCCCCCCACCACCAAACACTCACCC GAAAGATCCCTCTCCACCCCCCAACCACCACTCACCTGAGAGATCCCTCT CCACCCCCGCCATCACCACTCACCTGAAAGATTCCTCTCCACATCCCCAC CACCACTCACCTGAAAGATCCCTCTCCACCCCCCCACCACTAAACACTCA CCCGAAAGATCCCTCTCCATGCCCCCCACCACCAAACACTCACCCGAAAG ATCCCTCTCCACCCCCCAACCACTCACCTGAGAGATCCCTCTCCACCCCC GCCATCACCACTCACCCGAAAGATCCCTCTTCACCCCCCAACCACCACTC ACCCGAAAGATCCCTCTCCACCCCCCCACCACCAAACACTCACCCGAAAG ATCCCTCTCCACCCCCCAACCACTCACCTGAGAGATCCCTCTCCACCCCC GCCATCACCACTCACCCGAAAGATCCCTCTTCACCCCCCAACCACCACTC ACCCGAAAGATCCCTCTCCACCCCCCCACCACCAAACACTCACCCGAAAG ATCCCTCTCCACCCCCCAACCACTCACCTGAAAGATCCCTCTCCACCCCC CCACCACTAAACACTCACCCGAAAGATCCCTCTCCATGCCCCCCCACCAC CAAACACTCACCTGAAAGATCCCTCTCCACCCCCCCACCACCAAACACTC ACCTGAAAGATCCCTCTCCACCCCCG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0228 a0001c0001t0046g0228	1	398	0.0025	775	c.64+ others(792): Show c.64+11317_64+11318insCGGGGGTGGAGAGGGATCTTTCAGGTGA GTGTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTCAGGTGAGTGTTTGGT GGTGGGGGGGCATGGAGAGGGATCTTTCGGGTGAGTGTTTAGTGGTGGGG GGGTGGAGAGGGATCTTTCAGGTGAGTGGTTGGGGGGTGGAGAGGGATCT TTCGGGTGAGTGTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTCGGGTGA GTGGTGGTTGGGGGGTGAAGAGGGATCTTTCGGGTGAGTGGTGATGGCGG GGGTGGAGAGGGATCTCTCAGGTGAGTGGTTGGGGGGTGGAGAGGGATCT TTCGGGTGAGTGTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTCGGGTGA GTGGTGGTTGGGGGGTGAAGAGGGATCTTTCGGGTGAGTGGTGATGGCGG GGGTGGAGAGGGATCTCTCAGGTGAGTGGTTGGGGGGTGGAGAGGGATCT TTCGGGTGAGTGTTTGGTGGTGGGGGGCATGGAGAGGGATCTTTCGGGTG AGTGTTTAGTGGTGGGGGGGTGGAGAGGGATCTTTCAGGTGAGTGGTGGT GGGGATGTGGAGAGGAATCTTTCAGGTGAGTGGTGATGGCGGGGGTGGAG AGGGATCTCTCAGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGG GTGAGTGTTTGGTGGTGGGGGGCATGGAGAGGGATCTTTCGGGTGAGTGT TTAGTGGTGGGGGGGTGGAGAGGGATCTTTCAGGTGAGTGGTGGTGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
LGR6_chr1_202188799_202324761	202204775	C C	CACACACA others(768): Show CACACACACACCTCCAAACACACACACACCCCTAACACACACCTCCTCCA AACACAAACCTCCAAACACACACACACACCTCCAAACACACACACACACC CCTCCTTCAAACACACACACACCTCCAAACACACACACACCCCTAACACA CACCTCCTCCAAACACAAACCTCCAAACACACACACACACCTCCAAACAC ACACACACCTAACACACACCTCCTCCAAACACACACACACTTCCAAACAC ACACACACCTCCAAACACACATACATCTCCAAACACACACACACCTAACA CACGCACCTAACACACTCTTCCTTCAAACACACACACCTCCAAAGACACA CACACACCTAACACACACCTCCTTCAAACACACACACCTAACACACACCT CCTTCAAACACACACACACACCTCCAAACACACACACACCTAACACACAC CTCCTTCAAACACACACACACCTCCAAACACACACACCTAACACACACCT CCTTCAAACACACACACACCTCTCCAAACACACACACACACCTAACACAC CCCCCTTCAAACACACACACCTCTCCAAAAACACACACACACCTAACACA CACCTCCTTCAAACACACACACACCTCCAAACACAAACACACCTAACACA CCCCTCCTTCAAACACACACACCTCAAAACACACACACCTCAAAACACAC ACACATACCTAACACACACCTCCTTCAAACACACACACCTCCAAAAACAC ACACACCTAACACACACCTCTTTCAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG00673.hp2 others(42): Show HG00609.hp1 HG00639.hp2 HG00673.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01517.hp2 HG01981.hp1 HG02004.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp2 HG02148.hp2 HG02155.hp2 HG02523.hp1 HG02738.hp1 HG03239.hp1 HG03491.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG04228.hp2 NA18952.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18983.hp2 NA18994.hp1 NA19001.hp2 NA19003.hp2 NA19011.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0013	a0001c0001 a0001c0005 a0001c0029 others(6): Show a0001c0001 a0001c0005 a0001c0029 a0002c0002 a0002c0013 a0003c0004 a0005c0010 a0007c0008 a0013c0015	a0001c0001t0001 a0001c0005t0001 a0001c0029t0001 others(6): Show a0001c0001t0001 a0001c0005t0001 a0001c0029t0001 a0002c0002t0002 a0002c0013t0002 a0003c0004t0001 a0005c0010t0001 a0007c0008t0002 a0013c0015t0002	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0112 others(41): Show a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0213 a0001c0001t0001g0255 a0001c0005t0001g0183 a0001c0005t0001g0205 a0001c0005t0001g0206 a0001c0005t0001g0207 a0001c0029t0001g0201 a0002c0002t0002g0001 a0002c0002t0002g0171 a0002c0002t0002g0180 a0002c0002t0002g0185 a0002c0002t0002g0195 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0204 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0214 a0002c0002t0002g0216 a0002c0013t0002g0208 a0003c0004t0001g0184 a0003c0004t0001g0203 a0003c0004t0001g0217 a0005c0010t0001g0199 a0007c0008t0002g0218 a0007c0008t0002g0229 a0013c0015t0002g0202	45	262	0.1718	775	c.212 others(794): Show c.212+10584_212+10585insCTCCAAACACACACACACCCCTAACA CACACCTCCTCCAAACACAAACCTCCAAACACACACACACACCTCCAAAC ACACACACACACCCCTCCTTCAAACACACACACACCTCCAAACACACACA CACCCCTAACACACACCTCCTCCAAACACAAACCTCCAAACACACACACA CACCTCCAAACACACACACACCTAACACACACCTCCTCCAAACACACACA CACTTCCAAACACACACACACCTCCAAACACACATACATCTCCAAACACA CACACACCTAACACACGCACCTAACACACTCTTCCTTCAAACACACACAC CTCCAAAGACACACACACACCTAACACACACCTCCTTCAAACACACACAC CTAACACACACCTCCTTCAAACACACACACACACCTCCAAACACACACAC ACCTAACACACACCTCCTTCAAACACACACACACCTCCAAACACACACAC CTAACACACACCTCCTTCAAACACACACACACCTCTCCAAACACACACAC ACACCTAACACACCCCCCTTCAAACACACACACCTCTCCAAAAACACACA CACACCTAACACACACCTCCTTCAAACACACACACACCTCCAAACACAAA CACACCTAACACACCCCTCCTTCAAACACACACACCTCAAAACACACACA CCTCAAAACACACACACATACCTAACACACACCTCCTTCAAACACACACA CCTCCAAAAACACACACACCTAACACACACCTCTTTCAAACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGR6_chr1_202188799_202324761	202204775	C C	CACACACA others(768): Show CACACACACACCTCCAAACACACACACACCCCTAACACACACCTCCTCCA AACACAAACCTCCAAACACACACACACACCTCCAAACACACACACACACC CCTCCTTCAAACACACACACACCTCCAAACACACACACACCCCTAACACA CACCTCCTCCAAACACAAACCTCCAAACACACACACACACCTCCAAACAC ACACACACCTAACACACACCTCCTCCAAACACACACACACTTCCAAACAC ACACACACCTCCAAACACACATACATCTCCAAACACACACACACCTAACA CACGCACCTAACACACTCTTCCTTCAAACACACACACCTCCAAAGACACA CACACACCTAACACACACCTCCTTCAAACACACACACCTAACACACACCT CCTTCAAACACACACACACACCTCCAAACACACACACACCTAACACACAC CTCCTTCAAACACACACACACCTCCAAACACACACACCTAACACACACCT CCTTCAAACACACACACACCTCTCCAAACACACACACACACCTAACACAC CCCCCTTCAAACACACACACCTCTCCAAAAACACACACACACCTAACACA CACCTCCTTCAAACACACACACACCTCCAAACACAAACACACCTAACACA CCCCTCCTTCAAACACACACACCTCAAAACACACACACCTCAAAACACAC ACACATACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACAC ACACACCTAACACACACCTCTTTCAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02280.hp2 others(2): Show HG02055.hp1 HG02258.hp2 HG02280.hp2 HG02809.hp1 HG03139.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0034 a0002c0002 a0004c0003 a0001c0034 a0002c0002 a0004c0003	a0001c0034t0004 a0002c0002t0003 a0004c0003t0003 a0001c0034t0004 a0002c0002t0003 a0004c0003t0003	a0001c0034t0004g0097 a0002c0002t0003g0101 a0004c0003t0003g0057 others(2): Show a0001c0034t0004g0097 a0002c0002t0003g0101 a0004c0003t0003g0057 a0004c0003t0003g0058 a0004c0003t0003g0100	5	262	0.0191	775	c.212 others(794): Show c.212+10584_212+10585insCTCCAAACACACACACACCCCTAACA CACACCTCCTCCAAACACAAACCTCCAAACACACACACACACCTCCAAAC ACACACACACACCCCTCCTTCAAACACACACACACCTCCAAACACACACA CACCCCTAACACACACCTCCTCCAAACACAAACCTCCAAACACACACACA CACCTCCAAACACACACACACCTAACACACACCTCCTCCAAACACACACA CACTTCCAAACACACACACACCTCCAAACACACATACATCTCCAAACACA CACACACCTAACACACGCACCTAACACACTCTTCCTTCAAACACACACAC CTCCAAAGACACACACACACCTAACACACACCTCCTTCAAACACACACAC CTAACACACACCTCCTTCAAACACACACACACACCTCCAAACACACACAC ACCTAACACACACCTCCTTCAAACACACACACACCTCCAAACACACACAC CTAACACACACCTCCTTCAAACACACACACACCTCTCCAAACACACACAC ACACCTAACACACCCCCCTTCAAACACACACACCTCTCCAAAAACACACA CACACCTAACACACACCTCCTTCAAACACACACACACCTCCAAACACAAA CACACCTAACACACCCCTCCTTCAAACACACACACCTCAAAACACACACA CCTCAAAACACACACACATACCTAACACACACCTCCTTCAAACACACACA CCTCCAAACACACACACACCTAACACACACCTCTTTCAAACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGR6_chr1_202188799_202324761	202204775	C C	CACACACA others(768): Show CACACACACACCTCCAAACACACACACACCCCTAACACACACCTCCTCCA AACACAAACCTCCAAACACACACACACACCTCCAAACACACACACACACC CCTCCTTCAAACACACACACACCTCCAAACACACACACACCCCTAACACA CACCTCCTCCAAACACAAACCTCCAAACACACACACACACCTCCAAACAC ACACACACCTAACACACACCTCCTCCAAACACACACACACTTCCAAACAC ACACACACCTCCAAACACACATACATCTCCAAACACACACACACCTAACA CACGCACCTAACACACTCTTCCTTCAAACACACACACCTCCAAAGACACA CACACACCTAACACACACCTCCTTCAAACACACACACCTAACACACACCT CCTTCAAACACACACACACACCTCCAAACACACACACACCTAACACACAC CTCCTTCAAACACACACACACCTCCAAACACACACACCTAACACACACCT CCTTCAAACACACACACACCTCTCCAAACACACACACACACCTAACACAC CCCCCTTCAAACACACACACCTCTCCAAAAACACACACACACCTAACGCA CACCTCCTTCAAACACACACACACCTCCAAACACAAACACACCTAACACA CCCCTCCTTCAAACACACACACCTCAAAACACACACACCTCAAAACACAC ACACATACCTAACACACACCTCCTTCAAACACACACACCTCCAAAAACAC ACACACCTAACACACACCTCTTTCAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0168 a0002c0002t0002g0168	1	262	0.0038	775	c.212 others(794): Show c.212+10584_212+10585insCTCCAAACACACACACACCCCTAACA CACACCTCCTCCAAACACAAACCTCCAAACACACACACACACCTCCAAAC ACACACACACACCCCTCCTTCAAACACACACACACCTCCAAACACACACA CACCCCTAACACACACCTCCTCCAAACACAAACCTCCAAACACACACACA CACCTCCAAACACACACACACCTAACACACACCTCCTCCAAACACACACA CACTTCCAAACACACACACACCTCCAAACACACATACATCTCCAAACACA CACACACCTAACACACGCACCTAACACACTCTTCCTTCAAACACACACAC CTCCAAAGACACACACACACCTAACACACACCTCCTTCAAACACACACAC CTAACACACACCTCCTTCAAACACACACACACACCTCCAAACACACACAC ACCTAACACACACCTCCTTCAAACACACACACACCTCCAAACACACACAC CTAACACACACCTCCTTCAAACACACACACACCTCTCCAAACACACACAC ACACCTAACACACCCCCCTTCAAACACACACACCTCTCCAAAAACACACA CACACCTAACGCACACCTCCTTCAAACACACACACACCTCCAAACACAAA CACACCTAACACACCCCTCCTTCAAACACACACACCTCAAAACACACACA CCTCAAAACACACACACATACCTAACACACACCTCCTTCAAACACACACA CCTCCAAAAACACACACACCTAACACACACCTCTTTCAAACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGR6_chr1_202188799_202324761	202204775	C C	CACACACA others(768): Show CACACACACACCTCCAAACACACACACACCCCTAACACACACCTCCTCCA AACACAAACCTCCAAACACACACACACACCTCCAAACACACACACACACC CCTCCTTCAAACACACACACACCTCCAAACACACACACACCCCTAACACA CACCTCCTCCAAACACAAACCTCCAAACACACACACACACCTCCAAACAC ACACACACCTAACACACACCTCCTCCAAACACACACACACTTCCAAACAC ACACACACCTCCAAACACACATACATCTCCAAACACACACACACCTAACA CACGCACCTAACACACTCTTCCTTCAAACACACACACCTCCAAAGACACA CACACACCTAACACACACCTCCTTCAAACACACACACCTAACACACACCT CCTTCAAACACACACACACACCTCCAAACACACACACACCTAACACACAC CTCCTTCAAACACACACACACCTCCAAACACACACACCTAACACACACCT CCTTCAAACACACACACACCTCTCCAAACACACACACACACCTAACACAC CCCCCTTCAAACACACACACCTCTCCAAACACACACACACACCTAACACA CACCTCCTTCAAACACACACACACCTCCAAACACAAACACACCTAACACA CCCCTCCTTCAAACACACACACCTCAAAACACACACACCTCAAAACACAC ACACATACCTAACACACACCTCCTTCAAACACACACACCTCCAAAAACAC ACACACCTAACACACACCTCTTTCAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG01071.hp2 others(15): Show HG00408.hp2 HG00558.hp1 HG01071.hp2 HG01261.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02258.hp1 HG02647.hp2 HG06807.hp2 NA18747.hp1 NA18970.hp1 NA18971.hp1 NA19066.hp1 NA19085.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0015 others(1): Show a0001 a0002 a0015 a0016	a0001c0001 a0001c0030 a0002c0002 others(2): Show a0001c0001 a0001c0030 a0002c0002 a0015c0026 a0016c0018	a0001c0001t0001 a0001c0030t0001 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0030t0001 a0002c0002t0002 a0015c0026t0001 a0016c0018t0002	a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0193 others(15): Show a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0220 a0001c0001t0001g0259 a0001c0030t0001g0228 a0002c0002t0002g0167 a0002c0002t0002g0177 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0219 a0002c0002t0002g0225 a0002c0002t0002g0227 a0002c0002t0002g0256 a0002c0002t0002g0257 a0015c0026t0001g0187 a0016c0018t0002g0192	18	262	0.0687	775	c.212 others(794): Show c.212+10584_212+10585insCTCCAAACACACACACACCCCTAACA CACACCTCCTCCAAACACAAACCTCCAAACACACACACACACCTCCAAAC ACACACACACACCCCTCCTTCAAACACACACACACCTCCAAACACACACA CACCCCTAACACACACCTCCTCCAAACACAAACCTCCAAACACACACACA CACCTCCAAACACACACACACCTAACACACACCTCCTCCAAACACACACA CACTTCCAAACACACACACACCTCCAAACACACATACATCTCCAAACACA CACACACCTAACACACGCACCTAACACACTCTTCCTTCAAACACACACAC CTCCAAAGACACACACACACCTAACACACACCTCCTTCAAACACACACAC CTAACACACACCTCCTTCAAACACACACACACACCTCCAAACACACACAC ACCTAACACACACCTCCTTCAAACACACACACACCTCCAAACACACACAC CTAACACACACCTCCTTCAAACACACACACACCTCTCCAAACACACACAC ACACCTAACACACCCCCCTTCAAACACACACACCTCTCCAAACACACACA CACACCTAACACACACCTCCTTCAAACACACACACACCTCCAAACACAAA CACACCTAACACACCCCTCCTTCAAACACACACACCTCAAAACACACACA CCTCAAAACACACACACATACCTAACACACACCTCCTTCAAACACACACA CCTCCAAAAACACACACACCTAACACACACCTCTTTCAAACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHPP_chr10_124456823_124619141	124471472	T T	TATTTTAT others(768): Show TATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATTT TTTATTTTATATATTTATATATATTACATATATTTTTATATTTTATATAT ATTTATATATTTTATATATTTATATATTTTTTATATATTTATATATTTAT ATATATATTTATATATATTTATGTATATTTATATATATATTTATATATAT TTATGTATATTTATATATATATTTATATATATGTATATTTATATATATTT ATATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTT ATATATTTATATTATATATTTATATATATATTTATATGTATTTATATATT TATATATTTATATGTATTTATACATATATATTTATATGTATTTATATATA TTTATATATATTTTTATGTATTTATATATATTTAATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATATTTATATATATTTATATATATTTATATATATATTTATATATAT ATTTATATATATATTATTTATATATATATTTATATATATTTATATATATT TATATATATTTATATATATTTATATATATATTTATATATATTTATATATA TTTATATATATTTATATATATATTTA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	260	0.0039	775	c.125 others(792): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATTTTATATATTTATATATATTACAT ATATTTTTATATTTTATATATATTTATATATTTTATATATTTATATATTT TTTATATATTTATATATTTATATATATATTTATATATATTTATGTATATT TATATATATATTTATATATATTTATGTATATTTATATATATATTTATATA TATGTATATTTATATATATTTATATATTTATGTATATATTTATATATATT TATATATTTATGTATAAATTTATATATTTATATTATATATTTATATATAT ATTTATATGTATTTATATATTTATATATTTATATGTATTTATACATATAT ATTTATATGTATTTATATATATTTATATATATTTTTATGTATTTATATAT ATTTAATATATATTTATATATATTTATATATATATTTATATATATTTATA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATTTATATATATTTATATATATATTTATA TATATTTATATATATATTTATATATATATTTATATATATTTATATATATT TATATATATATTTATATATATATTTATATATATATTATTTATATATATAT TTATATATATTTATATATATTTATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATTTATATATATTTATATATATATTTA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LRRIQ1_chr12_85031351_85250105	85112497	T T	TAAGAGTT others(768): Show TAAGAGTTTTGCTTCTAAATCAAAACCACTATGAGATATCATCTCACACC AGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAG GATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTA GTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACT AGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATG AGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCG GCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAAT GATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATG CAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAA TTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACA CCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGAC ACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGG GGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGT GGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCA CAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAA AAGAAGTTAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	228	0.0044	775	c.337 others(794): Show c.3377+5897_3377+5898insAAATCAAAACCACTATGAGATATCAT CTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTG CTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACT GTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGAT CTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATA CCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGT TTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGT CCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACAT GGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGAC ACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACT AACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAA AAAAAAAAAAGAAGTTAAAAAAAAAAAAAAAAAAAAGAGTTTTGCTTCT	LRRIQ1	ENSG00000133640.20	transcript	ENST00000393217.7	protein_coding	15/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRIQ1_chr12_85031351_85250105	85112497	T T	TAAGAGTT others(768): Show TAAGAGTTTTGCTTCTAAATCAAAACCACTATGAGATATCATCTCACACC AGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAG GATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTA GTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACT AGAAATACCATTTGACCCAGCCGTCCCATTACTGGGTATATACCCAAATG AGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCG GCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAAT GATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATG CAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAA TTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACA CCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGAC ACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGG GGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGT GGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCA CAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAA AAGAAGTTAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	228	0.0044	775	c.337 others(794): Show c.3377+5897_3377+5898insAAATCAAAACCACTATGAGATATCAT CTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTG CTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACT GTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGAT CTAGAACTAGAAATACCATTTGACCCAGCCGTCCCATTACTGGGTATATA CCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGT TTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGT CCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACAT GGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGAC ACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACT AACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAA AAAAAAAAAAGAAGTTAAAAAAAAAAAAAAAAAAAAGAGTTTTGCTTCT	LRRIQ1	ENSG00000133640.20	transcript	ENST00000393217.7	protein_coding	15/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
MEOX1_chr17_43635389_43666922	43638994	T T	TGAAACCC others(768): Show TGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCATATCCCAGCTAC TCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGT GGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTGTCCCAAAAAACAAACAAACAAAAAAAGTAGGTGGATGGGATCATCTG GGGAGAGATTGAAAAATAGGGAAGGTGGCGGAAGAAAGAGAAAACCTTGA GAACCAGCTGTGAGAGCAGAAGCATCGAGAAAGGGGCTTGCATGGGGGAC AGAGAAGGAACATCTAGGACAGATGAGGAAAGCCAGAAGAGGGTGATGTC CCCTGAAGCCACAGAGTTGAGTTTCCAGCAGGAGGGTGGACGGGGGTGAC TGAGCGTGTCCATGTTGCTTGGCTGTGAACCTGAACCTGAGCCACTGAAC CCACTTCCATTTGGCACCTTCATTTTGGTGGGTCTGCCTGATTCCAGGTC CTGGTGATGTCACTTCCAGGCACTGCCCACACCTGGCCCAGGCTGCCTCA ATGCAAGATCCTGGCCAGGTCTCCCCTCCCGCCTCCCTCTCTCCCCTCAC CGTAGCCAGTCCTGTTTTGTCCATTGTTGACATCTTGGTGAGACAAATTG TTTTTTAGTTAAAAAGACATAGAGGCCAGGCGTGGTGGCTCAGGCCTGTA ACCTCAGCTCTTTGGGAGGCCAAAGCGGGTGGATCACCTGAGGTCAGGAG CTGGAGACCACCCTGGCCAACATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	380	0.0026	775	c.29 others(786): Show c.2915_*2916insTCCATGTTGGCCAGGGTGGTCTCCAGCTCCTGAC CTCAGGTGATCCACCCGCTTTGGCCTCCCAAAGAGCTGAGGTTACAGGCC TGAGCCACCACGCCTGGCCTCTATGTCTTTTTAACTAAAAAACAATTTGT CTCACCAAGATGTCAACAATGGACAAAACAGGACTGGCTACGGTGAGGGG AGAGAGGGAGGCGGGAGGGGAGACCTGGCCAGGATCTTGCATTGAGGCAG CCTGGGCCAGGTGTGGGCAGTGCCTGGAAGTGACATCACCAGGACCTGGA ATCAGGCAGACCCACCAAAATGAAGGTGCCAAATGGAAGTGGGTTCAGTG GCTCAGGTTCAGGTTCACAGCCAAGCAACATGGACACGCTCAGTCACCCC CGTCCACCCTCCTGCTGGAAACTCAACTCTGTGGCTTCAGGGGACATCAC CCTCTTCTGGCTTTCCTCATCTGTCCTAGATGTTCCTTCTCTGTCCCCCA TGCAAGCCCCTTTCTCGATGCTTCTGCTCTCACAGCTGGTTCTCAAGGTT TTCTCTTTCTTCCGCCACCTTCCCTATTTTTCAATCTCTCCCCAGATGAT CCCATCCACCTACTTTTTTTGTTTGTTTGTTTTTTGGGACAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACCACAAACTC TGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGG GATATGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTC	MEOX1	ENSG00000005102.14	transcript	ENST00000318579.9	protein_coding		1394		chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(768): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCCCCCTTC CCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTCCCC TCCTCCCTCCCCCCCTCCCCTCCTCCTCCCCCCCTCCCCTCCTCCCTCCC CTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCCT CCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCC CCTTCCCCCCTCCCCTCCACCCTCCCTCCCTCCCTCCCTCCCCTCCTCCC TCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCC TCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCCCCTCCCCTTC CCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCC CTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCC TCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCC TCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCC CTCCCTTCCCCTCCCTCCCCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTT GCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCC CCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTC CCCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0015 a0001c0001t0013g0015	1	278	0.0036	775	c.115 others(792): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCCCCC TTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTC CCCTCCTCCCTCCCCCCCTCCCCTCCTCCTCCCCCCCTCCCCTCCTCCCT CCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTC CCTCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCT CCCCCTTCCCCCCTCCCCTCCACCCTCCCTCCCTCCCTCCCTCCCCTCCT CCCTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCTCCCTTC CCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCCCCTCCCC TTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCCCTTC CCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCC CCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGC CCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTC CCCCTCCCTTCCCCTCCCTCCCCCCCCTCCTCCCCCTCCCTTCCCCTCCG CTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCC TCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCT CTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(768): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCCCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCG GCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	394	0.0025	775	c.-8+ others(788): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGT AGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCC GGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(768): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCG GCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18969.hp2 NA18983.hp2 others(1): Show HG00609.hp2 NA18969.hp2 NA18983.hp2 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	4	394	0.0102	775	c.-8+ others(788): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGT AGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCC GGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(768): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCG GCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00733.hp1 others(86): Show HG00558.hp1 HG00558.hp2 HG00733.hp1 HG00738.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02040.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02602.hp2 HG02630.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18962.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18990.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19066.hp1 NA19066.hp2 NA19085.hp2 NA19088.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007	a0001c0001t0001g0003 a0001c0001t0001g0121 a0001c0002t0001g0001 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0121 a0001c0002t0001g0001 a0001c0002t0001g0115 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0005g0008 a0001c0002t0007g0016 a0001c0002t0007g0117	89	394	0.2259	775	c.-8+ others(788): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGT AGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCC GGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(768): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCG GCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCTATACGTAT ATCTATTCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	394	0.0025	775	c.-8+ others(788): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGAATAGATATACGT ATAGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGT AGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCC GGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(768): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTATCCCGGCCTCGGCTCTCACCCCCTACCCCG GCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	394	0.0025	775	c.-8+ others(788): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGT AGGGGGTGAGAGCCGAGGCCGGGATAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCC GGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(768): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATAAATATATATAAATA TATATAAATATATATAAATATATATAAATATATATAAATATATATAAATA TATATTTAGCTATATTTATATCAGATAAAATGGATTAACAGTCAAAAACT GTAAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAGTCAATTCT TCAAGAGCATATAACTACTGTAAATATATATATTATATATATATAAAACC AAAACCAGAAGACCTAAATATATATATATATATATAAAAAACCAAAACCA GAGGACCTAAATATATATATATAAATATATAAATATAAATATATAAATAT ATATATATAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTT TATATATATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTT ATATATTTATATAAATATAAATATATAAATATATATAATTATATATATAT TTAGGTCCTCTGGTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA19068.hp2 HG01981.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0280 a0001c0001t0002g0272 a0001c0001t0001g0280 a0001c0001t0002g0272	2	312	0.0064	775	c.293 others(794): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATAAATATATATAAATATATATAAATA TATATAAATATATATAAATATATATAAATATATATAAATATATATTTAGC TATATTTATATCAGATAAAATGGATTAACAGTCAAAAACTGTAAAATGAG ACAAAGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCAT ATAACTACTGTAAATATATATATTATATATATATAAAACCAAAACCAGAA GACCTAAATATATATATATATATATAAAAAACCAAAACCAGAGGACCTAA ATATATATATATAAATATATAAATATAAATATATAAATATATATATATAA TTATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATA TATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATATTTAT ATAAATATAAATATATAAATATATATAATTATATATATATTTAGGTCCTC TGGTTTTGGTTATATGTATATATATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
NINL_chr20_25447697_25590531	25562270	G G	GGCCAGCC others(768): Show GGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCC GCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCTGG CCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGG CCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCAGGCG AGACGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCTGCCCGGCCAG CCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGT GGGGGAGTCAGTCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGCTGGTT GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCAGGAGGCTGGTTGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01255.hp2 HG01884.hp2 others(32): Show HG00544.hp1 HG01255.hp2 HG01884.hp2 HG01891.hp1 HG01981.hp2 HG02027.hp1 HG02523.hp2 HG02572.hp1 HG02723.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03579.hp2 NA18906.hp1 NA18939.hp1 NA18942.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18980.hp2 NA18985.hp2 NA18998.hp1 NA19011.hp2 NA19057.hp2 NA19062.hp2 NA19066.hp1 NA19068.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp1	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0002 a0002c0008 a0003c0003 others(2): Show a0002c0002 a0002c0008 a0003c0003 a0003c0013 a0008c0020	a0002c0002t0004 a0002c0008t0002 a0003c0003t0004 others(2): Show a0002c0002t0004 a0002c0008t0002 a0003c0003t0004 a0003c0013t0002 a0008c0020t0004	a0002c0002t0004g0035 a0002c0008t0002g0196 a0003c0003t0004g0016 others(32): Show a0002c0002t0004g0035 a0002c0008t0002g0196 a0003c0003t0004g0016 a0003c0003t0004g0017 a0003c0003t0004g0018 a0003c0003t0004g0019 a0003c0003t0004g0022 a0003c0003t0004g0023 a0003c0003t0004g0024 a0003c0003t0004g0025 a0003c0003t0004g0026 a0003c0003t0004g0027 a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0030 a0003c0003t0004g0031 a0003c0003t0004g0032 a0003c0003t0004g0033 a0003c0003t0004g0034 a0003c0003t0004g0036 a0003c0003t0004g0037 a0003c0003t0004g0038 a0003c0003t0004g0039 a0003c0003t0004g0040 a0003c0003t0004g0041 a0003c0003t0004g0044 a0003c0003t0004g0047 a0003c0003t0004g0048 a0003c0003t0004g0049 a0003c0003t0004g0050 a0003c0013t0002g0043 a0003c0013t0002g0045 a0003c0013t0002g0046 a0008c0020t0004g0021 a0008c0020t0004g0042	35	310	0.1129	775	c.-12 others(794): Show c.-12+23184_-12+23185insTGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGTGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGATGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCAACCAGCCTCCTGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCTGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCC AACCAGCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGACTGACTCCCCC ACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGG CTGGCCGGGCAGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGTCT CGCCTGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGAGCGGCTGG CCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG CCAGGCAGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC GGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGC	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23			chr20	TogoVar
NINL_chr20_25447697_25590531	25562270	G G	GGCCAGCC others(768): Show GGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCT GCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCTGG CCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGG CCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCAGGCG AGACGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCTGCCCGGCCAG CCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGT GGGGGAGTCAGTCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGCTGGTT GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCAGGAGGCTGGTTGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0020 a0002c0002t0004g0020	1	310	0.0032	775	c.-12 others(794): Show c.-12+23184_-12+23185insTGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGTGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGATGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCAACCAGCCTCCTGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCTGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCC AACCAGCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGACTGACTCCCCC ACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGG CTGGCCGGGCAGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGTCT CGCCTGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGAGCGGCTGG CCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG CCAGGCAGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC AGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGC	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23			chr20	TogoVar
NOTCH1_chr9_136489433_136551048	136535944	A A	AGGGGAGC others(768): Show AGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGG AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGAG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGG GTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGC AGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGG TGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAAT GGGTGCAGGGTGGGAGTGGGTGGAGG	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	324	0.0031	775	c.140 others(792): Show c.140+8079_140+8080insCCTCCACCCACTCCCACCCTGCACCCAT TGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCA TTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCA TTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACC CATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGC ACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTG CACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTG CACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTG CACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCT GCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCC TGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCC TGCACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACT CCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCC ACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NXN_chr17_794310_984776	952751	G G	GGGGGGGC others(768): Show GGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACG GACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAAC CCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGGCTGGGGTCAGAG AGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGG GGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACG GTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGC AGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAA GGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGG AGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTAC CACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAG ACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGG GGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGA CGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCG GCAGGTACCACGGACGGTCACACTGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0073 a0001c0001t0007g0073	1	242	0.0041	775	c.360 others(794): Show c.360+26567_360+26568insACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCC CCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGT CTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTT CCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTG GTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCCACA GTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACT CCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACC TTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCT GCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGAC CGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCC CCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCT CTCTGACCCCAGCCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGG GTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PAK2_chr3_196734857_196837647	196811297	C C	CTCCCCTC others(768): Show CTCCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCC TCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTT CCCTACCCTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTC CTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCC CTTCCTTCCCTACCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCCCT TCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTC CCTTCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCC TTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCT TCCTTTCCTTCCTTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	178	0.0056	775	c.773 others(790): Show c.773+648_773+649insCTCCCTTCCCTCCCTCCCTTCCCTCCCTTC CTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTCCCTTCCCTCCCT CCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCC TCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACC CTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCT CCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCCCTTCCTT CCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTC CCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCTTCC CTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(768): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCCCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCG GCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	376	0.0027	775	c.15 others(786): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAG GGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCGG GGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCA GGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(768): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCG GCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 NA18983.hp2 HG00609.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0001 a0001c0001t0010g0053 a0001c0001t0002g0001 a0001c0001t0010g0053	2	376	0.0053	775	c.15 others(786): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAG GGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCGG GGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCA GGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(768): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCG GCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00733.hp1 others(78): Show HG00558.hp1 HG00558.hp2 HG00733.hp1 HG00738.hp1 HG01167.hp1 HG01169.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02040.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18962.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18990.hp1 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0008 a0011 a0019 a0021	a0001c0001 a0001c0011 a0001c0025 others(7): Show a0001c0001 a0001c0011 a0001c0025 a0001c0029 a0002c0002 a0007c0026 a0008c0028 a0011c0012 a0019c0024 a0021c0023	a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(10): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0011t0002 a0001c0025t0002 a0001c0029t0002 a0002c0002t0001 a0007c0026t0002 a0008c0028t0002 a0011c0012t0023 a0019c0024t0002 a0021c0023t0002	a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0017 others(35): Show a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0008g0033 a0001c0001t0011g0032 a0001c0001t0015g0084 a0001c0011t0002g0030 a0001c0025t0002g0088 a0001c0029t0002g0093 a0002c0002t0001g0144 a0007c0026t0002g0089 a0008c0028t0002g0092 a0011c0012t0023g0176 a0019c0024t0002g0062 a0021c0023t0002g0103	81	376	0.2154	775	c.15 others(786): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAG GGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCGG GGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCA GGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGC CGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(768): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTATCCCGGCCTCGGCTCTCACCCCCTACCCCG GCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	376	0.0027	775	c.15 others(786): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAG GGGGTGAGAGCCGAGGCCGGGATAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCGG GGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCA GGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGC CGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PSMF1_chr20_1113602_1177246	1150048	T T	TGTGACCC others(768): Show TGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCT TGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACT CCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGT GGTGGCGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGA TTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACT GTACTCCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTG GATGTGGTGGCGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGG GAGGATTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACA CCACTGTACTCCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATT AGCTGGATGTGGTGGCGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGA GGTGGGAGGATTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGA TCACACCACTGTACTCCAGCCTGGGCAACATGGTGAAACTCTGTCTCTAT AAATTAGCTGGATGTGGTGGCGTGACCCTGGAGTCCCAACTACTTGAGAG GCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGC CATGATCACACCACTGTACTCCAGCCTGGGCAACATGGTGAAACTCTGTC TCTATAAATTAGCTGGATGTGGTGGC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	326	0.0031	775	c.552 others(794): Show c.552-12992_552-12991insCACTGTACTCCAGCCTGGGCAACATG GTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGCGTGACCCTGGA GTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG GTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACTCCAGCCTGGGCA ACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGCGTGACC CTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCC AGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACTCCAGCCT GGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGCG TGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTG AGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACTCC AGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGTGG TGGCGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATT GCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACTGT ACTCCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTGGA TGTGGTGGCGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGA GGATTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACAC	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
ROBO2_chr3_77035099_77654964	77322918	A A	ATATATTA others(768): Show ATATATTATGGATAATATAATATATTATATTATATTATGGATAATATAAT ATATTATATTATATTATGGATAATATAATATATTATATTATGGATAATAT AATATATTATATTATATTATGGATAATCTAATATATTATATTATATTATG GATAATCTAATATATTATATTATATTATGGATAATATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAAT ATATTATATTATGGATAATATAATATATTATATTATGGATAATATATTAT ATTATGGATAATATATTATATTATGGATAATATATTATATTATGGATAAT ATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATAT AATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAA TATATTATATTATGGATAATATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATAGTATATTATGGATAATATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAATATATTATATAAT ATATTATATTATGGATAATATAATATATTATATAATATATTATATTATGG ATAATATAATATATTATATAATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0003 a0001c0001t0014g0003	1	160	0.0063	775	c.389 others(796): Show c.389-154406_389-154405insGGATAATATAATATATTATATTAT ATTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATAT TATATTATATTATGGATAATATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATATTATATTATGGATAATATA TTATATTATGGATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATAATATATTATATTATGGATAATATAATATATTATATTATGG ATAATATAATATATTATATTATGGATAATATAATATATTATATTATGGAT AATATAGTATATTATGGATAATATAATATATTATATTATGGATAATATAA TATATTATATTATGGATAATATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATAATATATTATATAATATATTATATTATGGA TAATATAATATATTATATAATATATTATATTATGGATAATATAATATATT ATATAATATATTATATTATGGATAATATAATATATTATATTATATTATGG ATAATATAATATATTATATTATATTATGGATAATATAATATATTATATTA T	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
SART1_chr11_65956734_65985137	65971177	A A	AGCTGCTG others(768): Show AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAG GGGGATGGTGAGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGAGGAGGGGGATGGTGGGATTCATG	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0171 a0001c0002t0003g0171	1	384	0.0026	775	c.157 others(794): Show c.1572+3356_1572+3357insGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGAGGAGGGGGATGGTGAGATTCATGAGCTGAGG AGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTC ATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGG GGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGA GCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTG AGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19			chr11	TogoVar
SART1_chr11_65956734_65985137	65971177	A A	AGCTGCTG others(768): Show AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGAGGAGGGGGATGGTGGGATTCATG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01169.hp1 HG01255.hp2 others(34): Show HG01123.hp2 HG01169.hp1 HG01255.hp2 HG01884.hp2 HG02015.hp2 HG02040.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03492.hp2 HG03942.hp2 HG04115.hp2 HG04228.hp2 NA18939.hp2 NA18966.hp1 NA18968.hp2 NA18971.hp2 NA18978.hp2 NA18989.hp1 NA18993.hp1 NA19001.hp2 NA19043.hp1 NA19054.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp1 NA19074.hp2 NA19079.hp1 NA19087.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0010 a0001c0002 a0005c0010	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0005c0010t0003	a0001c0002t0001g0036 a0001c0002t0002g0038 a0001c0002t0002g0174 others(17): Show a0001c0002t0001g0036 a0001c0002t0002g0038 a0001c0002t0002g0174 a0001c0002t0002g0201 a0001c0002t0002g0233 a0001c0002t0003g0002 a0001c0002t0003g0037 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0173 a0001c0002t0003g0210 a0001c0002t0003g0232 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0254 a0001c0002t0003g0256 a0005c0010t0003g0002	37	384	0.0964	775	c.157 others(794): Show c.1572+3356_1572+3357insGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGG AGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTC ATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGG GGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGA GCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTG AGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19			chr11	TogoVar
SCARA5_chr8_27864883_27997673	27918972	A A	AGAAGGAG others(768): Show AGAAGGAGGAGGAGAAAGAGGAGGAGGAGGAAGAGGGGAAGAGGAGAAAG AGGAGGAAAAGGAGAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGA GGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAGAAGAAAGGGGAGAAAG AGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGAGAAAAGGAGGAGGAGA GGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACAGGAGGAGGAGAAGGAGG AGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAG GAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGGAGAA GGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAGG AGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGAG GAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGAGGAGAGGGAAGA AGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGAAAAAGAGGAGGA GGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAGGGGAGGA AGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAATGGGAGGA GGAGGAGAGAATAGAGGAGGAGGAGGGAATAGAGGAGGAGGAGAGAAGGG AGGAGGAGAAGAGAAGGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0028 a0003c0011t0028	a0003c0011t0028g0309 a0003c0011t0028g0309	1	314	0.0032	775	c.916 others(792): Show c.916+2598_916+2599insCTCCTCCTCCCTTCTCTTCTCCTCCTCC CTTCTCTCCTCCTCCTCTATTCCCTCCTCCTCCTCTATTCTCTCCTCCTC CTCCCATTCCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTC CTCCCCTTCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTC CTCCTCTTTTTCTCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTC TTCCCTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCT CCTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCC TCTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTT CTCCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCT CCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCC TCCTTCTCCTCCTCCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTC TCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCT TTCTCCCCTTTCTTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTC CTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTCTCCTTTTCCTCCTCT TTCTCCTCTTCCCCTCTTCCTCCTCCTCCTCTTTCTCCTCCTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918978	A A	AGGAGGAG others(768): Show AGGAGGAGGAGAAGGAGGAGGAGAAAGAGGAGGAGGAGGAAGAGGAGGAA GAGGAGAAAGAGGAGGAAAAGAAGGAGGAGGAGGAAGAGAAAAGGAGGAG GAGGGGAAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAGAAGAA AGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGAGAAAA GGAGGAGGAGAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACAGGAGGA GAAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGAAGGAGA AGGAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAGGAGGAG GAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGA GGAGGAGGAGAAGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGA AGGAAGAAGAGGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAG GAGAAAGAGGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGA GGAGAGGGAAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGA AAAAGAGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGG AGAAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGG AGGAATGGGAGGAGGAGGAGAGAATAGAGGAGGAGGGAATAGAGGAGGAG GAGAGAAGGGAGGAGGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0060 a0001c0003t0060	a0001c0003t0060g0259 a0001c0003t0060g0259	1	314	0.0032	775	c.916 others(792): Show c.916+2592_916+2593insCTTCTCTTCTCCTCCTCCCTTCTCTCCT CCTCCTCTATTCCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCC TCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCC TCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTC TCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTC TTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCTTTCTCCT CTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTC TCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTC CTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCT CCTCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTCCTTC TCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTTCTC CTCCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTCTCCTCCTCCTT TTCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTT CTTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTTCCCCTCCT CCTCCTTTTCTCTTCCTCCTCCTCCTTCTTTTCCTCCTCTTTCTCCTCTT CCTCCTCTTCCTCCTCCTCCTCTTTCTCCTCCTCCTTCTCCTCCTCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918978	A A	AGGAGGAG others(768): Show AGGAGGAGGAGAAGGAGGAGGAGAAAGAGGAGGAGGAGGAAGAGGAGGAA GAGGAGAAAGAGGAGGAAAAGAAGGAGGAGGAGGAAGAGAAAAGGAGGAG GAGGGGAAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAGAAGAA AGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGAGAAAA GGAGGAGGAGAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACAGGAGGA GGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGAAGGAGA AGGAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAGGAGGAG GAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGA GGAGGAGAGAAGGGAGGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGGAGA AGAAAGAAGAGGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAG GAGAAAGAGGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGA GGAGAGGGAAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGA AAAAGAGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGG AGAAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGG AGGAATGGGAGGAGGAGGAGAGAATAGAGGAGGAGGGAATAGAGGAGGAG GAGAGAAGGGAGGAGGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0225 a0001c0001t0005g0225	1	314	0.0032	775	c.916 others(792): Show c.916+2592_916+2593insCTTCTCTTCTCCTCCTCCCTTCTCTCCT CCTCCTCTATTCCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCC TCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCC TCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTC TCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTC TTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCTTTCTCCT CTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTTCTTC TCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTCCTCCCTTCTCTCCTCCTC CTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCT CCTCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTCCTTC TCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTC CTCCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTCTCCTCCTCCTT TTCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTT CTTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTTCCCCTCCT CCTCCTTTTCTCTTCCTCCTCCTCCTTCTTTTCCTCCTCTTTCTCCTCTT CCTCCTCTTCCTCCTCCTCCTCTTTCTCCTCCTCCTTCTCCTCCTCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918978	A A	AGGAGGAG others(768): Show AGGAGGAGGAGAAGGAGGAGGAGAAAGAGGAGGAGGAGGAAGAGGAGGAA GAGGAGAAAGAGGAGGAAAAGAAGGAGGAGGAGGAAGAGAAAAGGAGGAG GAGGGGAAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAGAAGAA AGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGAGAAAA GGAGGAGGAGAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACAGGAGGA GGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGAAGGAGA AGGAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAGGAGGAG GAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGA GGAGGAGGAGAAGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGA AGGAAGAAGAGGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAG GAGAAAGAGGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGA GGAGAGGGAAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGA AAAAGAGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGG AGAAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGG AGGAATGGGAGGAGGAGGAGAGAATAGAGGAGGAGGGAATAGAGGAGGAG GAGAGAAGGGAGGAGGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00642.hp2 others(70): Show HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG01081.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01256.hp2 HG01261.hp2 HG01515.hp1 HG01884.hp1 HG01975.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02523.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03579.hp2 HG03654.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18955.hp2 NA18959.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18998.hp1 NA19000.hp2 NA19009.hp1 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19077.hp2 NA19085.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0024 a0001c0025 a0002c0013 a0002c0015 a0002c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0018 a0001c0001t0030 a0001c0001t0041 a0001c0001t0058 a0001c0001t0059 a0001c0003t0001 a0001c0003t0012 a0001c0003t0015 a0001c0005t0004 a0001c0005t0008 a0001c0005t0009 a0001c0005t0013 a0001c0005t0045 a0001c0009t0003 a0001c0009t0011 a0001c0009t0017 a0001c0024t0009 a0001c0025t0006 a0002c0013t0003 a0002c0013t0006 a0002c0015t0001 a0002c0015t0014 a0002c0017t0001	a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0163 others(70): Show a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0163 a0001c0001t0001g0241 a0001c0001t0001g0267 a0001c0001t0001g0275 a0001c0001t0002g0044 a0001c0001t0002g0051 a0001c0001t0002g0059 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0005g0174 a0001c0001t0005g0203 a0001c0001t0005g0217 a0001c0001t0005g0250 a0001c0001t0007g0055 a0001c0001t0008g0141 a0001c0001t0008g0171 a0001c0001t0008g0260 a0001c0001t0008g0294 a0001c0001t0010g0042 a0001c0001t0010g0064 a0001c0001t0010g0077 a0001c0001t0010g0109 a0001c0001t0014g0151 a0001c0001t0014g0214 a0001c0001t0018g0186 a0001c0001t0030g0056 a0001c0001t0041g0078 a0001c0001t0058g0143 a0001c0001t0059g0182 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0262 a0001c0003t0012g0167 a0001c0003t0012g0254 a0001c0003t0015g0041 a0001c0003t0015g0047 a0001c0003t0015g0048 a0001c0005t0004g0158 a0001c0005t0004g0169 a0001c0005t0004g0226 a0001c0005t0004g0243 a0001c0005t0004g0245 a0001c0005t0004g0263 a0001c0005t0004g0296 a0001c0005t0008g0266 a0001c0005t0009g0091 a0001c0005t0013g0155 a0001c0005t0045g0049 a0001c0009t0003g0148 a0001c0009t0003g0221 a0001c0009t0003g0288 a0001c0009t0003g0292 a0001c0009t0003g0293 a0001c0009t0011g0185 a0001c0009t0011g0193 a0001c0009t0017g0142 a0001c0024t0009g0080 a0001c0025t0006g0084 a0002c0013t0003g0265 a0002c0013t0003g0274 a0002c0013t0006g0054 a0002c0015t0001g0281 a0002c0015t0001g0297 a0002c0015t0014g0227 a0002c0017t0001g0303	73	314	0.2325	775	c.916 others(792): Show c.916+2592_916+2593insCTTCTCTTCTCCTCCTCCCTTCTCTCCT CCTCCTCTATTCCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCC TCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCC TCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTC TCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTC TTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCTTTCTCCT CTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTC TCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTC CTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCT CCTCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTCCTTC TCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTC CTCCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTCTCCTCCTCCTT TTCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTT CTTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTTCCCCTCCT CCTCCTTTTCTCTTCCTCCTCCTCCTTCTTTTCCTCCTCTTTCTCCTCTT CCTCCTCTTCCTCCTCCTCCTCTTTCTCCTCCTCCTTCTCCTCCTCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918978	A A	AGGAGGAG others(768): Show AGGAGGAGGAGAAGGAGGAGGAGAAAGAGGAGGAGGAGGAAGAGGAGGAA GAGGAGAAAGAGGAGGAAAAGAAGGAGGAGGAGGAAGAGAAAAGGAGGAG GAGGGGAAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAGAAGAA AGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGAGAAAA GGAGGAGGAGAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACAGGAGGA GGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGAAGGAGA AGGAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAGGAGGAG GAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGA GGAGGAGGAGAAGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGA AGGAAGAAGAGGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAG GAGAAAGAGGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGA GGAGAGGGAAGAAGAGGAGGATGAGGGGAAGAAAGAGGAGGAGGAGGAGA AAAAGAGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGG AGAAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGG AGGAATGGGAGGAGGAGGAGAGAATAGAGGAGGAGGGAATAGAGGAGGAG GAGAGAAGGGAGGAGGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01934.hp1 HG01081.hp2 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0035 a0001c0009t0003 a0001c0001t0035 a0001c0009t0003	a0001c0001t0035g0001 a0001c0009t0003g0124 a0001c0001t0035g0001 a0001c0009t0003g0124	2	314	0.0064	775	c.916 others(792): Show c.916+2592_916+2593insCTTCTCTTCTCCTCCTCCCTTCTCTCCT CCTCCTCTATTCCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCC TCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCC TCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTC TCCTCCTCCTCCTCTTTCTTCCCCTCATCCTCCTCTTCTTCCCTCTCCTC TTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCTTTCTCCT CTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTC TCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTC CTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCT CCTCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTCCTTC TCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTC CTCCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTCTCCTCCTCCTT TTCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTT CTTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTTCCCCTCCT CCTCCTTTTCTCTTCCTCCTCCTCCTTCTTTTCCTCCTCTTTCTCCTCTT CCTCCTCTTCCTCCTCCTCCTCTTTCTCCTCCTCCTTCTCCTCCTCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SNX9_chr6_157818246_157950077	157827544	T T	TTATAGTT others(768): Show TTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATATAA AATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATT ATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAA CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	302	0.0033	775	c.12+ others(790): Show c.12+4102_12+4103insGTTTATATAATATATAAAATATATTATAGT TTATATAATATATAAAATATATTATAGTTTATATAATATATAAAATATAT TATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAC ACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATA ATATATACACATATATTATAGTTTATATAATATATACACATATATTATAG TTTATATAATATATACACATATATTATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAAT ATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTT TATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATA TTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SRBD1_chr2_45383680_45616267	45414955	C C	CACACACA others(768): Show CACACACATATAGTGTGTATATAGTATGTACATACACACACATATAGTGT GTATATAGTATGTATATACACACATATAGTGTGTATATAGTATGTATATA CACACATATAGTGTGTATATAGTATGTATATACACACATATAGTGTGTAT ATAGTATGTATATACACACATATAGTGTGTATATAGTATGTATATACACA CATATAGTGTGTATATAGTATGTATATACACACATATAGTGTGTATATAG TATGTATATACACACATATAGTGTGTATATAGTATGTATATACACACATA TAGTGTGTATATAGTATGTATATACACACATATAGTGTGTATATAGTATG TATATACACACATATAGTGTGTATATGTGTATATACACACATTTAAAAAA CAAAAATATACATAGTGTGTATATAGTGTGTATATAGTATGCACATACAC ACATAGTGTATATAGTATGTATATACACACACACATAGTGTGTATATAGT ATGTATATACACACACACAGTGTGTATATAGTATATACACACACACAGTG TGTATATAGTATGTACACACACACATAGTGTGTATATAGTATGTACACAC ACATATAGTGTGTATATAGTATGTACACACACATATAGTGTGTATATAGT ATGTACACACAATATAGTGTGTATATAGTATGTACACACACATATAGTGT GTATATAGTATGTACACACACAGTGTTATATAGTATGTACATACACACAC ATATAGTGTGTATATAGTATGTATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	358	0.0028	775	c.233 others(794): Show c.2334-1663_2334-1662insATATACATACTATATACACACTATAT GTGTGTGTATGTACATACTATATAACACTGTGTGTGTACATACTATATAC ACACTATATGTGTGTGTACATACTATATACACACTATATTGTGTGTACAT ACTATATACACACTATATGTGTGTGTACATACTATATACACACTATATGT GTGTGTACATACTATATACACACTATGTGTGTGTGTACATACTATATACA CACTGTGTGTGTGTATATACTATATACACACTGTGTGTGTGTATATACAT ACTATATACACACTATGTGTGTGTGTATATACATACTATATACACTATGT GTGTATGTGCATACTATATACACACTATATACACACTATGTATATTTTTG TTTTTTAAATGTGTGTATATACACATATACACACTATATGTGTGTATATA CATACTATATACACACTATATGTGTGTATATACATACTATATACACACTA TATGTGTGTATATACATACTATATACACACTATATGTGTGTATATACATA CTATATACACACTATATGTGTGTATATACATACTATATACACACTATATG TGTGTATATACATACTATATACACACTATATGTGTGTATATACATACTAT ATACACACTATATGTGTGTATATACATACTATATACACACTATATGTGTG TATATACATACTATATACACACTATATGTGTGTATATACATACTATATAC ACACTATATGTGTGTGTATGTACATACTATATACACACTATATGTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRXN1_chr20_641615_658200	642200	G G	GGGGGGGC others(768): Show GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGTGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGC CCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCC CAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTG CCTGTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0126	1	422	0.0024	775	c.65 others(786): Show c.6513_*6514insAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGC AACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGCTGG GCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGCAACTCCA CCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCACCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCC CCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCC GCTGGGCCTCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCAC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGGCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4414		chr20	TogoVar
TAFA5_chr22_48484553_48756932	48679751	A A	AGCTCCCC others(768): Show AGCTCCCCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCCGGCT CCCCGTCCATCCCTCTCCCGGCTCCCTGTCCATCCCTCTCCCGGCTCCCT GTCCATCCCTCTCCCGGCTCGGCGTCCATCCCTCTCCCGGCTCCCTGTCC ATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCTGGCTCCCCAGCTCCCC GTCCATCCCTCTCCCGGCTCCCCATCCATCCCTCTTCCGGCTCCCCGTCC ATCCCTCTCCGGGCTCCCCGTCCATCCCTCTCCCGGCTCCCCGTCCATCC CTCTCCGGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATCCCTCT CCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATCCCTCTCCCG GCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATCCCTCTCCGGGCTC CCCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCG TCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCA TCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATCCC TCTCCGGGCTCCCCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTC CGGGCTCCCCGTCCATCCCTCTCCCGTCTCCCCATCCATCCCTCTCCCGT CTCCCCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCTGGCTCC CCAGCTCCCCGTCCATCCCTCTCCCG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0144 a0001c0003t0012g0144	1	258	0.0039	775	c.263 others(794): Show c.263-27937_263-27936insCGTCCATCCCTCTCCCGGCTCCCCGT CCATCCCTCTCCCGGCTCCCTGTCCATCCCTCTCCCGGCTCCCTGTCCAT CCCTCTCCCGGCTCGGCGTCCATCCCTCTCCCGGCTCCCTGTCCATCCCT CTCCCGGCTCCCCGTCCATCCCTCTCCTGGCTCCCCAGCTCCCCGTCCAT CCCTCTCCCGGCTCCCCATCCATCCCTCTTCCGGCTCCCCGTCCATCCCT CTCCGGGCTCCCCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCC GGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATCCCTCTCCCGGC TCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATCCCTCTCCCGGCTCCC CGTCCATCCCTCTCCGGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTC CATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATC CCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATCCCTC TCCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATCCCTCTCCG GGCTCCCCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCT CCCCGTCCATCCCTCTCCCGTCTCCCCATCCATCCCTCTCCCGTCTCCCC GTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCTGGCTCCCCAGCT CCCCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCCGGCTCCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1627981	C C	CAGGGGAT others(768): Show CAGGGGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGA AGGGGACAGCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCT CACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGA AGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGG GAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAAC TCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAG CTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCG GGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAG CTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCATGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAG GCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCA GAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACAG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0014 a0002c0001t0014	a0002c0001t0014g0087 a0002c0001t0014g0087	1	352	0.0028	775	c.299 others(790): Show c.299-556_299-555insCTGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCT GTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCA CCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCC TCACCCCATGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCT GCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCC TCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCT GCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTC TGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGC CCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCT CTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCC ACCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCT CTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCC GCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628871	C C	CGGGGTGA others(768): Show CGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCATGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAACTC ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAACT CACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAA CTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGC GGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGA GCTCATGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGC GGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAG AGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGG CGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAG GTGGGAAGGGGACAGCAGAGCTCATG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0089 a0002c0001t0006g0089	1	352	0.0028	775	c.299 others(792): Show c.299-1446_299-1445insCATGAGCTCTGCTGTCCCCTTCCCACCT CACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCC CCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCT GCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCATGAGCTC TGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTT CTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCC GCCTCACCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAG TTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTC CCGCCTCACCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGA GTTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTT CCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTG AGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTT CCCGCCTCACCCCCATGAGCTCTGCTGTCCCCTTCCCACCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar

Search by Variant

Search

Search Results