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
RPTOR_chr17_80539838_80971368	80744331	C C	CTACTAGC others(713): Show CTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGTTACGAGCACTGTCCTGGTTACGAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGA GCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0047 a0001c0024t0002g0047	1	137	0.0073	720	c.655 others(737): Show c.655-9652_655-9651insAGCCCTGGTTACTAGCACTGTCCTGGTT ACGAGCACTGTCCTGGTTACGAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTG TCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744487	C C	CCCTGGCT others(713): Show CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGG CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0004 a0004	a0004c0082 a0004c0082	a0004c0082t0010 a0004c0082t0010	a0004c0082t0010g0051 a0004c0082t0010g0051	1	154	0.0065	720	c.655 others(737): Show c.655-9508_655-9507insAGCCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTG TCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTACGAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(713): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATATTCCATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATATTCCATATATATA TATTCCATATATATATATATTCCATATATATATATTCCATATATATATAT ATTCCATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATTCCATATATATATATTCC ATATATATATATTCCATATATATATATTCCATATATATATATTCCATATA TATATATATTCCATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATTCCATATATATATATTCCATATATATA TATTCCATATATATATATTCC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	230	0.0043	720	c.115 others(737): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATGGAATATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATGGAATATATATA TATATGGAATATATATATATGGAATATATATATATATGGAATATATATAT ATGGAATATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATGGAATATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SERINC2_chr1_31408213_31439678	31431777	A A	ATAGGGTG others(713): Show ATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGACAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGTT AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGAGA GGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGATAGGGTGGAGAGGGTGGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0114 a0001c0003t0001g0114	1	337	0.0030	720	c.101 others(739): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGG GTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGG TGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGAT AGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGAT GGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GATGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432111	T T	TAGGGTGG others(713): Show TAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGACAGGG TGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGAT AGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGA GGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTG GTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAG GGTGGACAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGGAGAGGGTGG ACAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGGACAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGA GAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGACAGGGTGGATAGGGTGGTTAGAGTGGACAGGGTGGATAGGGT GGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATA GGGTGGTTAGAGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0363 a0001c0005t0002g0363	1	288	0.0035	720	c.101 others(737): Show c.1014-849_1014-848insATAGGGTGGATAGGGTGGAGAGGGTGGA GAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGG TGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGAT AGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGT GGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGGACA GGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTG GATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGTTAG GGTGGAGAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGG ACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGATAGG GTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGTTAGAGTGGAC AGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGACAGGGTGGATAGGGTGGTTAGAGTGGACAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	T T	TAGCAGGG others(713): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp2 HG02809.hp1 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0078 a0001c0002t0065 a0001c0002t0078	a0001c0002t0065g0247 a0001c0002t0078g0246 a0001c0002t0065g0247 a0001c0002t0078g0246	2	122	0.0164	720	c.-32 others(737): Show c.-32-1637_-32-1636insGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SLC24A3_chr20_19207642_19727926	19663437	C C	CTCCTCCA others(713): Show CTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTGCACCTCCTCCT CCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC TCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCA CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCCACCTCCTCCTCT ACCTCCTCCACCTCCTCCTCCTCCTCCTCCACTTCCTCCTCCTCCACCTC CTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCT GCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCC ACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0113 a0001c0009t0001g0113	1	89	0.0112	720	c.688 others(737): Show c.688-2426_688-2425insCCTCCACTTCCTCCTCCACCTCCTCCTC TACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTC CTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCT CCTCCTCCACCTCCTCCTCTACCTCCTCCACCTCCTCCTCCTCCTCCTCC ACTTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTC CACCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCT CCACCTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCACTT	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(713): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTGG TTGGCTGGTTTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAGAC GGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGC TCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCT CCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATTTT GTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTCGA ACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGA TTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCCTC CAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGTGC AGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02572.hp1 others(3): Show HG02109.hp2 HG02257.hp1 HG02572.hp1 HG02970.hp2 HG03516.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0020 a0001c0002t0002g0207 others(1): Show a0001c0002t0002g0008 a0001c0002t0002g0020 a0001c0002t0002g0207 a0001c0002t0002g0209	6	184	0.0326	720	c.55 others(731): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACAAAAACATAGGT ATCTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTTTTGTTTTGT TTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAA TGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATT CTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTA TGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGG TCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCT CCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGA CTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCAT TTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC6A12_chr12_185081_219157	197198	C C	CATCCATC others(713): Show CATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATC CATCTATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCCATCCATCTATCCATCCATCCATCCATCTATCCATCCATCTATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCA TCCATCTATCCATCCATCTATCCATCCATCCATCTACCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCA TCCATTCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCTATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCTATC CATCCATCCATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0324 a0002c0003t0003g0324	1	396	0.0025	720	c.107 others(737): Show c.1075+178_1075+179insAGATGGATGGATGGATGGATGGATAGAT GGATGGATAGATGGATGGATGGATGGATGGATAGATGGATAGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGATGGATGG ATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGAT GGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATAGATGGATGGATGGATGGATAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATAGATGGATAGATGGATAGAT GGATGGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGG ATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197198	C C	CATCCATC others(713): Show CATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATC CATCTATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCCATCCATCTATCCATCTATCCATCCATCTATCCATCCATCTATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCA TCTATCCATCCATCTATCCATCCATCCATCTACCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCA TTCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCTATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCTATC CATCCATCCATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0318 a0002c0003t0003g0318	1	396	0.0025	720	c.107 others(737): Show c.1075+178_1075+179insAGATGGATGGATGGATGGATGGATAGAT GGATGGATAGATGGATGGATGGATGGATGGATAGATGGATAGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGATGG ATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGG ATAGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATAGATGGATGGATAGATGGATAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATAGATGGATAGATGGATAGAT GGATGGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGG ATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197198	C C	CATCCATC others(713): Show CATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATC CATCTATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCTATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCCATCCATCTATCCATCTATCCATCCATCTATCCATCCATCTATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCA TCTATCCATCCATCTATCCATCCATCCATCTACCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCA TTCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCTATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCTATC CATCCATCCATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0323 a0002c0003t0003g0323	1	396	0.0025	720	c.107 others(737): Show c.1075+178_1075+179insAGATGGATGGATGGATGGATGGATAGAT GGATGGATAGATGGATGGATGGATGGATGGATAGATGGATAGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGATGG ATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGG ATAGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATAGATGGATGGATAGATGGATAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATAGATGGATAGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATAGATGGATAGATGGATAGAT GGATGGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGG ATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLIT3_chr5_168656740_169306139	168726523	G G	GGAGGCAG others(713): Show GGAGGCAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGAGAG GGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGCG AGGGAGAGGGAGGCAAGGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAG GCAAGGAGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGTGGGAA GGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGG AGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGAG GGAGGGAGGGAGAGGGAGGGAGGGAGGGAGGGAGGGAGAGGGAGGGAGGG TGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGG AGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAG GGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGAG GGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGCAGGGAGGGAGAG GGAGGCAGGGAGGGAGGGAGGGGGAGGGAGGCAGGGAGAGGGAGGCAAGG AGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGGAGGGAGACGG AGGCAGGGAGAGAGGGAGGGAGAGGGAGGCAGGGAGGGAGAGGGACGCAG GGGGAGAGGTAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0009 a0001c0014t0009	a0001c0014t0009g0121 a0001c0014t0009g0121	1	107	0.0093	720	c.227 others(739): Show c.2271-2040_2271-2039insTCTCCCTCCCTACCTCTCCCCCTGCG TCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCCTCTCTCCCTGCCTCCGTC TCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCTTG CCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTCCCTCCCTGCCTCCCTCTC CCTCCCTGCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCCCTCTC CCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCC TCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTC CCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCTCCCACCCTC CCTCCCTCTCCCTCCCTCCCTCCCTCCCTCCCTCTCCCTCCCTCCCTCCC TCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCAC CCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCTTCCC ACCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCC TCTCCCTCCCTCCCACCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCGCTC CCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCTC TCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTGCCTC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(713): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGG GAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGAGGA GGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGAA GGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAGGGGGA GGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAG GGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAGGG GGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGGG GAGGGGGAGGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG02148.hp1 HG00735.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	136	0.0147	720	c.12 others(731): Show c.1221_*1222insTCCCGCCACCCCCTCCCCCTCCCCCTCCTCTCCC CTCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTC CTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGCCT CCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTC CCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTC CCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTC CCCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCC TCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCC TCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCC CCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTC TCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCC TCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCC CCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCTT TCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(713): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGG AAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGG GGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGA GGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGG AGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAG GGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGAGG AGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGA AGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAGGGGG AGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGA GGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAGG GGGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGG GGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	135	0.0074	720	c.12 others(731): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTCC TCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGCCTC CCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCC CCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCT CTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCT CCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCC CTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCCTCCCCTC TCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCC TCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCC CCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCTT TCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(713): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGGAGGGGGGGA GGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGG TGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGG GGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGG AAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGG GGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGA GGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGG AGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAG GGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGAGG AGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGA AGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAGGGGG AGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGA GGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAGG GGGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGG GGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG03654.hp1 HG01109.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	136	0.0147	720	c.12 others(731): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTCC TCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGCCTC CCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCC CCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCT CTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCT CCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCC CTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCT CCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCT CCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCC CCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCCTCCTT TCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SNX9_chr6_157818246_157950077	157827544	T T	TTATAGTT others(713): Show TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATAT AATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATA GTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATAT ATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATAT ATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTA TATAATATATAAATATATATTATAGTTTATATAATATATAAATATATATT ATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAA TATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAA TATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGT TTATATAATATATAAATATATATTATAGTTTATATAATATATAAATATAT ATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATAT AAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATA TAATATATAAATATATATTATAGTTTATATAATATATAAATATATATTAT AGTTTATATAATATATAAATA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0018	1	241	0.0041	720	c.12+ others(735): Show c.12+4102_12+4103insGTTTATATAATATATAAATATATATTATAG TTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATATA TATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATA TAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTAT ATAATATATAAATATATATTATAGTTTATATAATATATAAATATATATTA TAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAAT ATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAAT ATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTT TATATAATATATAAATATATATTATAGTTTATATAATATATAAATATATA TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATAT AATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATA GTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATAT ATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATAT ATAAATATATATTATAGTTTATATAATATATAAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SORCS2_chr4_7187538_7747827	7449027	T T	TCCTCCCT others(713): Show TCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCC CTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCT CCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0056 a0001c0017t0002g0056	1	100	0.0100	720	c.548 others(739): Show c.548+52680_548+52681insCCTCCCTCCCTTCCTCCCTCCCTTCC TCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTC CCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCC TCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTT CCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCC TCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTC CCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCC TCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCC TCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTC CCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCC TTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTC CCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCC TCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTT CCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPIRE2_chr16_89823475_89876319	89852605	C C	CAACCCCC others(713): Show CAACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG CATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCATACGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCC ATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGCCCTCCCTC TCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCG CATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCCGTCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0258 a0002c0002t0002g0258	1	162	0.0062	720	c.646 others(737): Show c.646-1681_646-1680insAACCCCCCGGATCCCATGGCCCGTCTTC CGTCCTCCCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCT CTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCC GGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATG GCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTC CGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCT CTCACCCCCCGGATCCCATGGCCCGTCATACGTCTTCTCTCTCACCCCCC GGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATG GCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTC CGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCT CTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCC GGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATG GCCCGTCTTCCGCCCTCCCTCTCACCCCCCGGATCCCATGATCCGTCTTC CGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCT CTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852915	G G	GTCCTCCC others(713): Show GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG CATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG CATCCCATGGCCCGTCTTCCA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0316 a0001c0019t0001g0316	1	351	0.0028	720	c.646 others(737): Show c.646-1352_646-1351insGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGCATCCCATGGCCCGTCTTCCATCCTCCCTCTCACCCCCCG	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(713): Show CTATTATATATAATATACCTATTATATACATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATAATATATTATATATAATATGCATATTATA TGTATTATATATTATATATTATATATATAATATACATATTATATGTATTA TATATTATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATTATATATTA TATATTATATACATATTATATATTATATACATATTATATATTATATATTA TATACATATTATACATTATATATATCTAAAATATATAATACACATTATAT ATTATATAATACACATTATATATAATATATAATACACATTATATATTATA TATAATACACATTATATATTATATAATACACATTATATATTATATATAAT ACACATTATATATTATATATAATACACATTATATATTATATATAATACAC ATTATATATTATATATAATACACATTATATATTATATAATACACATTATA TATTATATATAATACACATTATATATATAATACACATTATATATTATATA TAATACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	82	0.0122	720	c.62 others(731): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATATAATA TATAATGTGTATTATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATTATATATAATGTGTATTATATAATATATAATGTGTAT TATATATTTTAGATATATATAATGTATAATATGTATATAATATATAATAT ATAATATGTATATAATATATAATATGTATATAATATATAATATATAATAT GTATATAATATATAATATATAATATGTATATTATATATAATATATAATAC ATATAATATGTATATTATATATATAATATATAATATATAATACATATAAT ATGTATATTATATATATAATATATAATATATAATACATATAATATGCATA TTATATATAATATATTATATAATGCATATAATAGGTATATTATATATAAT GCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATA TAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTA TATATAATGTATATAATAGGTATATTATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(713): Show CTATTATATATAATATACCTATTATATACATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATAATATATTATATATAATATGCATATTATA TGTATTATATATTATATATTATATATATAATATACATATTATATGTATTA TATATTATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATTATATATTA TATATTATATACATATTATATATTATATACATATTATATATTATATATTA TATACATATTATACATTATATATATCTAAAATATATAATACACATTATAT ATTATATAATACACATTATATATAATATATAATACACATTATATATTATA TATAATACACATTATATATTATATATAATACACATTATATATTATATAAT ACACATTATATATTATATATAATACACATTATATATTATATATAATACAC ATTATATATTATATATAATACACATTATATATTATATAATACACATTATA TATTATATATAATACACATTATATATATAATACACATTATATATTATATA TAATACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG00738.hp1 others(41): Show HG00140.hp1 HG00621.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01099.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02040.hp1 HG02132.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp2 HG02735.hp2 HG02738.hp2 HG03239.hp2 HG04204.hp1 NA18747.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18959.hp2 NA18962.hp1 NA18969.hp1 NA18991.hp1 NA19001.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19068.hp2 NA19070.hp2 NA19085.hp2 NA19086.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0022 a0002c0005 a0013c0018	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0022t0001 a0002c0005t0001 a0013c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0167 a0001c0001t0001g0176 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0002t0001g0061 a0001c0003t0002g0231 a0001c0022t0001g0177 a0002c0005t0001g0027 a0002c0005t0001g0207 a0002c0005t0001g0208 a0002c0005t0001g0209 a0013c0018t0001g0056	44	125	0.3520	720	c.62 others(731): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATTATATATAATGTGTATTATATAATATATAATGTGTAT TATATATTTTAGATATATATAATGTATAATATGTATATAATATATAATAT ATAATATGTATATAATATATAATATGTATATAATATATAATATATAATAT GTATATAATATATAATATATAATATGTATATTATATATAATATATAATAC ATATAATATGTATATTATATATATAATATATAATATATAATACATATAAT ATGTATATTATATATATAATATATAATATATAATACATATAATATGCATA TTATATATAATATATTATATAATGCATATAATAGGTATATTATATATAAT GCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATA TAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTA TATATAATGTATATAATAGGTATATTATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(713): Show CTATTATATATAATATACCTATTATATACATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATAATATATTATATATAATATGCATATTATA TGTATTATATATTATATATTATATATATAATATACATATTATATGTATTA TATATTATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATTATATATTA TATATTATATACATATTATATATTATATACATATTATATATTATATATTA TATACATATTATACATTATATATATCTAAAATATATAATACACATTATAT ATTATATAATACACATTATATATTATATATAATACACATTATATATTATA TATAATACACATTATATATTATATAATACACATTATATATTATATATAAT ACACATTATATATTATATATAATACACATTATATATTATATATAATACAC ATTATATATTATATATAATACACATTATATATTATATAATACACATTATA TATTATATATAATACACATTATATATATAATACACATTATATATTATATA TAATACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0137 a0001c0002t0006g0137	1	82	0.0122	720	c.62 others(731): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATATAATA TATAATGTGTATTATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATAATATATAATGTGTATTATATAATATATAATGTGTAT TATATATTTTAGATATATATAATGTATAATATGTATATAATATATAATAT ATAATATGTATATAATATATAATATGTATATAATATATAATATATAATAT GTATATAATATATAATATATAATATGTATATTATATATAATATATAATAC ATATAATATGTATATTATATATATAATATATAATATATAATACATATAAT ATGTATATTATATATATAATATATAATATATAATACATATAATATGCATA TTATATATAATATATTATATAATGCATATAATAGGTATATTATATATAAT GCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATA TAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTA TATATAATGTATATAATAGGTATATTATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(713): Show CTATTATATATAATATACCTATTATATGCATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATAATATATTATATATAATATGCATATTATA TGTATTATATATTATATATTATATATATAATATACATATTATATGTATTA TATATTATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATTATATATTA TATATTATATACATATTATATATTATATACATATTATATATTATATATTA TATACATATTATACATTATATATATCTAAAATATATAATACACATTATAT ATTATATAATACACATTATATATAATATATAATACACATTATATATTATA TATAATACACATTATATATTATATATAATACACATTATATATTATATAAT ACACATTATATATTATATATAATACACATTATATATTATATATAATACAC ATTATATATTATATATAATACACATTATATATTATATAATACACATTATA TATTATATATAATACACATTATATATATAATACACATTATATATTATATA TAATACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	82	0.0122	720	c.62 others(731): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATTATATATAATGTGTATTATATAATATATAATGTGTAT TATATATTTTAGATATATATAATGTATAATATGTATATAATATATAATAT ATAATATGTATATAATATATAATATGTATATAATATATAATATATAATAT GTATATAATATATAATATATAATATGTATATTATATATAATATATAATAC ATATAATATGTATATTATATATATAATATATAATATATAATACATATAAT ATGTATATTATATATATAATATATAATATATAATACATATAATATGCATA TTATATATAATATATTATATAATGCATATAATAGGTATATTATATATAAT GCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATA TAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTA TATATAATGCATATAATAGGTATATTATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124008	A A	ATATATAT others(713): Show ATATATATAATATACCTATTATATATATAATATACCTATTATATATAATA TACCTATTATATATAAAATATACCTATTATATATAATATACCTATTATAT ACATTATATATAATATACCTATTATATGCATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATATAATATACCTATTATATGCATTATATAT AATATACCTATTATATGCATTATATAATATATTATATATAATATGCATAT TATATGTATTATATATTATATATTATATATATAATATACATATTATATGT ATTATATATAATATATTATATATATAATATACATATTATATGTATTATAT ATTATATATAATATACATATTATATATTATATATTATATACATATTATAT ATTATATATTATATACATATTATATATTATATATTATATACATATTATAT ATTATATACATATTATATATTATATATTATATACATATTATACATTATAT ATATCTAAAATATATAATACACATTATATATTATATAATACACATTATAT ATTATATATAATACACATTATATATTATATATAATACACATTATATATTA TATATAATACACATTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG02055.hp1 HG02717.hp1 others(5): Show HG01261.hp1 HG02055.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03139.hp1 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0010 a0001c0004t0021 a0001c0004t0004 a0001c0004t0010 a0001c0004t0021	a0001c0004t0004g0035 a0001c0004t0004g0149 a0001c0004t0004g0293 others(3): Show a0001c0004t0004g0035 a0001c0004t0004g0149 a0001c0004t0004g0293 a0001c0004t0010g0036 a0001c0004t0010g0297 a0001c0004t0021g0301	8	329	0.0243	720	c.62 others(731): Show c.6210_*6211insATATATAATGTGTATTATATATAATATATAATGT GTATTATATATAATATATAATGTGTATTATATATAATATATAATGTGTAT TATATAATATATAATGTGTATTATATATTTTAGATATATATAATGTATAA TATGTATATAATATATAATATATAATATGTATATAATATATAATATGTAT ATAATATATAATATATAATATGTATATAATATATAATATATAATATGTAT ATAATATATAATATATAATATGTATATTATATATAATATATAATACATAT AATATGTATATTATATATATAATATATTATATATAATACATATAATATGT ATATTATATATATAATATATAATATATAATACATATAATATGCATATTAT ATATAATATATTATATAATGCATATAATAGGTATATTATATATAATGCAT ATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATATAAT GCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATA TAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTA TATATAATGCATATAATAGGTATATTATATATAATGTATATAATAGGTAT ATTATATATAATAGGTATATTTTATATATAATAGGTATATTATATATAAT AGGTATATTATATATATAATAGGTATATTATATATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3376		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124011	T T	TATAATAT others(713): Show TATAATATACCTATTATATACATTATATATAATATACCTATTATATGCAT TATATATAATATACCTATTATATGCATTATATATAATATACCTATTATAT GCATTATATATAATATACCTATTATATGCATTATATATAATATACCTATT ATATGCATTATATAATATATTATATATAATATGCATATTATATGTATTAT ATATTATATATTATATATATAATATACATATTATATGTATTATATATTAT ATATTATATATATAATATACATATTATATGTATTATATATTATATATAAT ATACATATTATATATTATATATTATATACATATTATATATTATATATTAT ATACATATTATATATTATATACATATTATATATTATATATTATATACATA TTATACATTATATATATCTAAAATATATAATACACATTATATATTATATA ATACACATTATATATAATATATAATACACATTATATATTATATATAATAC ACATTATATATTATATATAATACACATTATATATTATATAATACACATTA TATATTATATATAATACACATTATATATTATATATAATACACATTATATA TTATATATAATACACATTATATATTATATATAATACACATTATATATTAT ATAATACACATTATATATTATATATAATACACATTATATATATAATACAC ATTATATATTATATATAATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG01346.hp2 others(22): Show HG00099.hp1 HG00597.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02559.hp2 HG02735.hp1 HG02809.hp1 HG02896.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp2 NA18999.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0023 a0001c0001 a0011c0023	a0001c0001t0001 a0011c0023t0001 a0001c0001t0001 a0011c0023t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0018 others(16): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0114 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0160 a0001c0001t0001g0213 a0001c0001t0001g0232 a0001c0001t0001g0278 a0001c0001t0001g0291 a0011c0023t0001g0049	25	341	0.0733	720	c.62 others(731): Show c.6207_*6208insGTATTATATATAATATATAATGTGTATTATATAT ATAATGTGTATTATATATAATATATAATGTGTATTATATAATATATAATG TGTATTATATATAATATATAATGTGTATTATATATAATATATAATGTGTA TTATATATAATATATAATGTGTATTATATATAATATATAATGTGTATTAT ATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATATAA TATATAATGTGTATTATATATTATATATAATGTGTATTATATAATATATA ATGTGTATTATATATTTTAGATATATATAATGTATAATATGTATATAATA TATAATATATAATATGTATATAATATATAATATGTATATAATATATAATA TATAATATGTATATAATATATAATATATAATATGTATATTATATATAATA TATAATACATATAATATGTATATTATATATATAATATATAATATATAATA CATATAATATGTATATTATATATATAATATATAATATATAATACATATAA TATGCATATTATATATAATATATTATATAATGCATATAATAGGTATATTA TATATAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTAT ATTATATATAATGCATATAATAGGTATATTATATATAATGCATATAATAG GTATATTATATATAATGTATATAATAGGTATATTAT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3373		chr20	TogoVar
THEG_chr19_356747_381026	377008	C C	CCCCCACC others(713): Show CCCCCACCCAGCCTCTCCCCCTCTGTGTGCCCCCACCCAGCCTCTCCCCC TCTGTACCCCCACCCAGCCTCTCCCCCTCTGTACCCCCACCCAGCCTCTC CCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTC TCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGC CTCTCCCCCTCTGTACCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTACCCCC ACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTACC CCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGT GCCCCCACCCAGCCTCTCCCCCTCTGTACCCCCACCCAGCCTCTCCCCCT CTGTGCCCCCACCCAGCCTCTCCCCCTCTGTACCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCTCTGTACCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCA GCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTACCCCCA CCCAGCCTCTCCCCCTCTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0110 a0001c0001t0007g0110	1	326	0.0031	720	c.-10 others(731): Show c.-1039_-1038insTACAGAGGGGGAGAGGCTGGGTGGGGGTACAGAG GGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGT ACAGAGGGGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGGTACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCT GGGTGGGGGTACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGA GGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGTACAGAGGGGG AGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGGTACAGAGG GGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGGCTGGGTGGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGG GTACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTG GGGGTACAGAGGGGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGGCTG GGTGGGGGCACACAGAGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		983		chr19	TogoVar
TMEM132D_chr12_129066726_129909025	129539007	C C	CGTTGGCT others(713): Show CGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTAC TAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCC TGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGATCCCTGGCGATAGG TCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAG CGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTAC TAGTGAGTCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCC TGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCTATAGG TCAGAAGGAGCGTTGGCTACTAGTGACTCCTGGCGATAGGTCAGAAGGAG CGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTAC TAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCC TGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGG TCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGGTCAGAAGGAG CGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTAC TAGTGACCCCTGGCAATAGGTCAGAAGGAGCGTTGGTTACTAGTGACCCC TGGTGATAGGTCAGAAGGAGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	85	0.0118	720	c.969 others(737): Show c.969-7803_969-7802insACTCCTTCTGACCTATCACCAGGGGTCA CTAGTAACCAACGCTCCTTCTGACCTATTGCCAGGGGTCACTAGTAGCCA ACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTC TGACCTATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCG CCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCC CTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCA ACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTC TGACCTATCGCCAGGAGTCACTAGTAGCCAACGCTCCTTCTGACCTATAG CCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCA CTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGACTCACTAGTAGCCA ACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTC TGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCG CCAGGGATCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCC CTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCA ACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAAC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8			chr12	TogoVar
TMEM161A_chr19_19114169_19143478	19116447	T T	TCAGCACT others(713): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTGG TTGGCTGGTTTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAGAC GGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGC TCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCT CCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATTTT GTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTCGA ACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGA TTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCCTC CAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGTGC AGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02572.hp2 others(3): Show HG02109.hp1 HG02257.hp2 HG02572.hp2 HG02970.hp2 HG03516.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0173 a0001c0001t0003g0174 others(3): Show a0001c0001t0003g0026 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178	6	217	0.0276	720	c.34 others(731): Show c.3482_*3483insGGATAACAGGCGTGAGCCACTGCACCCAGCCTGC AAATGAGCTATTCTTGAAAGAGCTCTAAGCTAGACTGGAGGAAAAAAAAC AGTCAACTAGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCGAGAGTTCGAGACCAGGCT GACCAAAATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGG CATAGTGGTACATGCCCTGTGATCCCACCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAC CATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCGTCTCAAAAAACA AAACAAAACAAAAAACAAACAAACAAAAACCAGCCAACCAACCAGGTAAG ATACCTATGTTTTTGTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTG CTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAC CTCCGCCTCCCAAGTTCAAGAGACTCTCCTGTCTCACCCTCTCGAGTAGC TGGGATTACAGGCGCCCAGCACTATTCTCGGCTAATTTTTGTATTTTTAG TACAGACGGGGTTTCACCATATTGGCCAGGCTGTCTCGAACCCTTGACCT CAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG	TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding		2721		chr19	TogoVar
TMPRSS2_chr21_41459305_41513158	41474314	A A	AGTGAGGA others(713): Show AGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTG AGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGG TGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTG AGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAG TGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTG AGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGGGAGTGAGTGAGGGGGTGG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0123 a0002c0005t0001g0123	1	360	0.0028	720	c.728 others(735): Show c.728-819_728-818insCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC TCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC CCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCC TCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCAC TCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCAC TCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC CCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC TCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCT others(713): Show CTCTCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCTC CCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCCC TCTCCTACCCCTCCCCCTTACCCTCCCCCCTTCCCCCCCTCTGCCCTCCC CTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTAT CCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCTCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCTCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCTCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCGTCCCCCCTCCC TCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTCC CCTCCCCCCCTCCCCTCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTCCC CTCCCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	10	0.1000	720	c.-25 others(739): Show c.-25-12116_-25-12115insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTTCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCT CCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTCCCCCCTTC CCCCCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCC CCTCCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCT CTCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTC TCCCCTCTCCCCTCCCCTCTCCCCTCTCCCTCTCCCCTCTCCCCTCCCCT CTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCC TCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CTCCCGTCCCCCCTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTTC CCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCTCCT CTCCCCTCCCCTCTCCCCTCCCCTCTCCTCCCTTTCCTTCTCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2418797	T T	TTCCCTTC others(713): Show TTCCCTTCTCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCATTCC CTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTCCCCTTCCCTCC CTCCCTTTCCTTCCCTCCATCCCTTTCCTTCCCTTCCCTTCCCTCCCTCC CTTTCCTTTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTTCCTTCCCTCC CTCTTTCCTTCCCTGCCTTCCCTCCCTACCTCCCCTGCCTTCCCTCCCTA CCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTC CCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTA CCTCTCCTTTCCTTCCCTCCCTACGTCTCCTTTCCTTCCCTCCCTCCCTC TCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCT CTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCC TCTCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCC CTCCCCTTCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCTCTC CTTCCCTTCCCTCCCTCCCTCCCTTTCCTTCCCCCATCCCTTTCCTTCCC TCCCTCCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTCCCTCCCTCTCCT TCCTTCCCTCCCTCCCTTTCC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0045	1	99	0.0101	720	c.215 others(737): Show c.2154+660_2154+661insCCCTTCTCTCCCTCCCTTTCCTTCCCTT CCCTCCCTCCCTTTCATTCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTC CCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTTCCCTCCATCCCTTTCCTT CCCTTCCCTTCCCTCCCTCCCTTTCCTTTCCTTCTCTCCTTCCCTTTCCT CCCTCCACTTCCTTCCCTCCCTCTTTCCTTCCCTGCCTTCCCTCCCTACC TCCCCTGCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCC TCCCTACCTCCCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCT CTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACGTCTCC TTTCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCC CTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTC CCTTCCCTCCCCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCCTT CCCTTCCCTCCCCACCCTCCCTCCCCTTCCCACCCTCCCTCCCTCTCCTT CCCTTTCCTCCCTCTCTCTCCTTCCCTTCCCTCCCTCCCTCCCTTTCCTT CCCCCATCCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTCTC CTTCCCTCCCTCCCTCTCCTTCCTTCCCTCCCTCCCTTTCCT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV2_chr9_133756894_133997324	133827936	C C	CCTACCGC others(713): Show CCTACCGCTGTGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGC TACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCACCTA CCGCTGTGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCACCTACC GCTGTGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCACCTACCGC TGTGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTG CGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCG CCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCC CACTGGGGCTGACCACTGAGCACGGGCATCGCCACCTACCGCTGCGCCCA CTGAGGCTGACCACTGAGCACGGGCATCGCCACCTACCGCTGTGCCCACT GAGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGA GGCTGACCACTGAGCACGGGCATCGCCACCTACCGCTGTGCCCACTGAGG CTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCT GACCACTGAGCACGGGCATCGCCACCTACCGCTGTGCCCACTGGGGCTGA CCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGAGGCTGACC ACTGAGCACGGGCATCGCCAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0001 a0001c0006t0009g0001	1	173	0.0058	720	c.449 others(737): Show c.449+6335_449+6336insCTGGCGATGCCCGTGCTCAGTGGTCAGC CTCAGTGGGCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCC CAGTGGGCACAGCGGTAGGTGGCGATGCCCGTGCTCAGTGGTCAGCCCCA GTGGGCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGT GGGCACAGCGGTAGGTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGG GCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGC ACAGCGGTAGGTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCGC AGCGGTAGGTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCGCAG CGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCGCAGCG GTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCGCAGCGGT AGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCACAGCGGTAG GTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCACAGCGGTAGGT GGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCACAGCGGTAGGTGG CGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCGCAGCGGTAGCTGGCG ATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCACAGCGGTAG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(713): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAACAACAAAGAAAAAAAAAACAAATGAAC AAAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTG TTTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAG GCGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTC TTTCTCTTATCATGTCATGATAAAAACTAAAGGGCGGGGCTGGGCACGGT GGCTCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02055.hp2 HG02145.hp2 others(8): Show HG00639.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02647.hp1 HG02717.hp2 HG02970.hp1 HG03579.hp1 HG03831.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0010 a0003c0006 others(1): Show a0001c0001 a0001c0010 a0003c0006 a0003c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0010t0001 a0003c0006t0001 a0003c0012t0001	a0001c0001t0001g0006 a0001c0001t0003g0048 a0001c0001t0004g0010 others(4): Show a0001c0001t0001g0006 a0001c0001t0003g0048 a0001c0001t0004g0010 a0001c0010t0001g0051 a0003c0006t0001g0007 a0003c0006t0001g0050 a0003c0012t0001g0052	11	129	0.0853	720	c.51 others(731): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTTAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATACT TAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAGC ACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTAG CGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAAA ACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTTT TTTTTTCTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCT GACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(713): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAACAACAAAGAAAAAAAAAACAAATGAAC AAAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTG TTTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGTCCACCACCACGCCCCGCTAATTTTTCTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAG GCGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTC TTTCTCTTATCATGTCATGATAAAAACTAAAGGGCGGGGCTGGGCACGGT GGCTCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	119	0.0084	720	c.51 others(731): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTTAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATACT TAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAGC ACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTAG CGGGGCGTGGTGGTGGACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAAA ACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTTT TTTTTTCTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCT GACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(713): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAACAACAACAAAGAAAAAAAAAACAAATGAACA AAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTGT TTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGG CGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTCT TTCTCTTATCATGTCATGATAAAAACTATAAGGGCGGGGCTGGGCACGGT GGCTCACCCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	119	0.0084	720	c.51 others(731): Show c.5167_*5168insTTGGGATTACAGGGGTGAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAA AACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTT TTTTTTTCTTTGTTGTTGTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCT GACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(713): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAACAAAAAACAACAACAAAGAAAAAAAAAACAAATGAACA AAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTGT TTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGG CGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTCT TTCTCTTATCATGTCATGATAAAAACTATAAGGGCGGGGCTGGGCACGGT GGCTCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0018 a0002c0005t0018	a0002c0005t0018g0089 a0002c0005t0018g0089	1	119	0.0084	720	c.51 others(731): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAA AACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTT TTTTTTTCTTTGTTGTTGTTTTTTGTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCT GACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(713): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAGAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAACAACAACAAAGAAAAAAAAAACAAATGAACA AAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTGT TTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGG CGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTCT TTCTCTTATCATGTCATGATAAAAACTATAAGGGCGGGGCTGGGCACGGT GGCTCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG02155.hp2 HG02165.hp1 others(1): Show HG00408.hp1 HG02155.hp2 HG02165.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0064 a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0064	4	122	0.0328	720	c.51 others(731): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAA AACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTT TTTTTTTCTTTGTTGTTGTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTC TAGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCT GACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(713): Show CTATAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0119	1	177	0.0056	720	c.53+ others(735): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGA TAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATA GATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(713): Show CTATAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0118	1	177	0.0056	720	c.53+ others(735): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGA TAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATC TATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATA GATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(714): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAG GAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGG GGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGA GGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAA GGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAA GAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGA AGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAG GAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGA GGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	8	0.1250	721	c.-70 others(730): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAG GGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGG GAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAA GGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGG GGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGA GTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGG GAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGA GGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGG AGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAG GAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGA AGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(714): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAG GAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGG GGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGA GGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAA GGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAA GAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGA AGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAG GAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGA GGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG00639.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	9	0.2222	721	c.-70 others(730): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAG GGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGG GAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAA GGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGG GGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGA GTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGG GAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGA GGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGG AGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAG GAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGA AGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
C2CD4C_chr19_400445_414147	404379	T T	TGGGGGGG others(714): Show TGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTG CCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGG GACGGGGCCCTGTCCTGAGGGGTGTGAGGGGGGGGACGGGGCCCTGTCCT GAGGGGTCTGAGGGGGGGACGGGGCCCTGTCCTGAGGGGTGTGAGGGGGA GACGGGTCCTGCCCCGAGGGGTGTGAGGGGGAGACGGGGTCCTGCCCCGA GGGGTCTGAGGGGGGGACGGGGTCCTGCCCCGAGGGGTCTGAGGGGGGGA CGGGGTCCTGCCCCGAGGGGTGTGGGGGGGGGACGGGGCCCTGTCCTGAG GGGTGTGAGGGGGGGGACGGGGCCCTGTCCTGAGGGGTCTGAGGGGGGGA CGGGGCCCTGTCCTGAGGGGTGTGAGGGGGAGACGGGTCCTGCCCCGAGG GGTGTGAGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGGAC GGGGCCCTGTCCCGAGGGGTCTGAGGGGGGGACGGGTCCTGCCCCGAGGG GTGTGAGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGGACG GGGTCCTGCCCTGAGGGGTGTGAGGGGGGGGACGGGGTCCTGCCCTGAGG GGTCTGAGGGGGGGACGGGTCCTGCCCCGAGGGGTGTGGGGGGGGGGACG GGGTCCTGTCCCGAGGGGTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0011 a0001c0001t0009g0011	1	255	0.0039	721	c.27 others(732): Show c.2716_*2717insGACACCCCTCGGGACAGGACCCCGTCCCCCCCCC CACACCCCTCGGGGCAGGACCCGTCCCCCCCTCAGACCCCTCAGGGCAGG ACCCCGTCCCCCCCCTCACACCCCTCAGGGCAGGACCCCGTCCCCCCCCT CACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCACACCCCTCGGGGCAG GACCCGTCCCCCCCTCAGACCCCTCGGGACAGGGCCCCGTCCCCCCCCTC ACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCACACCCCTCGGGGCAGG ACCCGTCTCCCCCTCACACCCCTCAGGACAGGGCCCCGTCCCCCCCTCAG ACCCCTCAGGACAGGGCCCCGTCCCCCCCCTCACACCCCTCAGGACAGGG CCCCGTCCCCCCCCCACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCAG ACCCCTCGGGGCAGGACCCCGTCCCCCCCTCAGACCCCTCGGGGCAGGAC CCCGTCTCCCCCTCACACCCCTCGGGGCAGGACCCGTCTCCCCCTCACAC CCCTCAGGACAGGGCCCCGTCCCCCCCTCAGACCCCTCAGGACAGGGCCC CGTCCCCCCCCTCACACCCCTCAGGACAGGGCCCCGTCCCCCCCACACCC CTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTC CCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1065		chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2407354	A A	GGTGGACA others(714): Show GGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCATCA TGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTG TGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCTTCA TCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAA GTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCC TCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGA TAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGA GCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCC TGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGG GGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCG TCCTGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTAC TGGGGAGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAG CCGTCCTGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGG TACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAA TAGCCGTCCTGATAAGTGTGCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0052 a0001c0001t0045g0052	1	93	0.0108	721	c.478 others(740): Show c.478-41623_478-41622insGGTGGACATCGTCTCCACCGACACCA TGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTT TGATAATAGCCGTCCTGATAAGTGTGCGGTGGACATCGTCTCCACCGACA CCATGTGGGTACTGGGGAGCTTCATCATGACCCAGTGGGAAGGAACGTCC TTTTGATAATAGCCGTCCTGATAAGTGTGCGGTGGACATCGTCTCCACCG ACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACG TCCTTTTGATAATAGCCGTCCTGATAAGTGTGCGGTGGACATCGTCTCCA CCGACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGA ACGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCGGTGGACATCGTCT CCACCGACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAA GGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCGGTGGACATCG TCTCCACCGACACCATGTGGGTACTGGGGAGCTTCATCATGACCCAGTGG GAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCGGTGGACA TCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAG TGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46			chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407457	A A	AGTGGACA others(714): Show AGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCATCA TGACCCAGTGGGAAGGAATGTCCTTTTGATAATAGCCGTCCTGATAAGTG TGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCTTCA TCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAA GTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCC TCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGA TAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGA GCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCC TGATAAGTGTGCGGTGGACATCGTCTCCACTGACACCATGTGGGTACTGG GGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCG TCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTAC TGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAG CCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGG TACTGGGGAGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAA TAGCCGTCCTGATAAGTGTGCG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0038 a0001c0008t0038	a0001c0008t0038g0045 a0001c0008t0038g0045	1	80	0.0125	721	c.478 others(740): Show c.478-41452_478-41451insTGTCCTTTTGATAATAGCCGTCCTGA TAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGA GCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCC TGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGG GGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCG TCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTAC TGGGGAGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAG CCGTCCTGATAAGTGTGCGGTGGACATCGTCTCCACTGACACCATGTGGG TACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAA TAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGT GGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGA TAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCA TGTGGGTACTGGGGAGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTT TGATAATAGCCGTCCTGATAAGTGTGCGGTGGACATCGTCTCCACCGACA CCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDC42SE2_chr5_131259053_131399672	131278725	C C	CCCCCCCC others(714): Show CCCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCTCCCCCCTCCCCCCTCCCCCCCCTCCCCCCTCCCCCCTCCC CTCCCCCCTCCCCCCCCTCCCCCTCCCCCCTCCCCCTCTCCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCC CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCCTCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCTTCCCCTCCTCT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0038 a0001c0001t0037g0038	1	237	0.0042	721	c.-45 others(742): Show c.-455+14563_-455+14564insCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCC CCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCCTCCCCCTCCCCC CTCCCCCTCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCCCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC CCTCCCCTCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCC CTCCCCTCCCCTCCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCC TCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCTCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP46_chr10_132803392_132947570	132826072	C C	CGGAGCCA others(714): Show CGGAGCCAGGCAGGGGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGCA GGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGCC ACGGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGC CACGGAGCCAGGCAGGAGCCGGAGCCGCAGAGACCCACCACGGAGCCAGG CAGGAGCCGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAG CCACAGAGACCAGCCACGGAGCCAGGCAGGAGCCAGAGCCACAGAGACCA GCCACGGAGCCAGGCAGGAACCAGAGCCACAGAGACCAGCCACGGAGCCA GGCAGGAGCCGGAGCCATGGAGCCAGGCAGGAGCCGGAGCCACAGAGACC AGCCACGGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAGCC AGGCAGGAGCCGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGGGCCG GAGCCACGGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCGCAGAGA CCCACCACAGAGCCAGGCAGGAGTCGGAGCCACGGAGCCAGGCAGGAACT GGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGAGCCAGAGCCACAGAG ACCAGCCACGGAGCCAGGCAGGAACCAGAGCCACAGAGACCAGCCACGGA GCCAGGCAGGAGCCGGAGCCAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18940.hp2 NA18960.hp2 HG00544.hp1 NA18940.hp2 NA18960.hp2	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0001 a0011c0010t0001	a0011c0010t0001g0187 a0011c0010t0001g0193 a0011c0010t0001g0213 a0011c0010t0001g0187 a0011c0010t0001g0193 a0011c0010t0001g0213	3	237	0.0127	721	c.711 others(740): Show c.7117+7285_7117+7286insATGGCTCCGGCTCCTGCCTGGCTCCG TGGCTGGTCTCTGTGGCTCTGGTTCCTGCCTGGCTCCGTGGCTGGTCTCT GTGGCTCTGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCCAGTT CCTGCCTGGCTCCGTGGCTCCGACTCCTGCCTGGCTCTGTGGTGGGTCTC TGCGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGC CCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCCGGCTCCTGCCTGGCT CCGTGGCTGGTCTCCGTGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTC TCTGTGGCTCCGGCTCCTGCCTGGCTCCATGGCTCCGGCTCCTGCCTGGC TCCGTGGCTGGTCTCTGTGGCTCTGGTTCCTGCCTGGCTCCGTGGCTGGT CTCTGTGGCTCTGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCC GGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCCGGCTCCTGCCTG GCTCCGTGGTGGGTCTCTGCGGCTCCGGCTCCTGCCTGGCTCCGTGGCTG GTCTCCGTGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCT CCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCTCCTGCC TGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCCCCTGCCTGGCTCC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132826072	C C	CGGAGCCA others(714): Show CGGAGCCAGGCAGGGGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGCA GGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGCC ACGGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGC CACGGAGCCAGGCAGGAGCCGGAGCCGCAGAGACCCACCACGGAGCCAGG CAGGAGCCGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAG CCACAGAGACCAGCCACGGAGCCAGGCAGGAGCCAGAGCCACAGAGACCA GCCACGGAGCCAGGCAGGAACCAGAGCCACAGAGACCAGCCACGGAGCCA GGCAGGAGCCGGAGCCATGGAGCCAGGCAGGAGCCGGAGCCACAGAGACC AGCCACGGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAGCC AGGCAGGAGCTGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGGGCCG GAGCCACGGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCGCAGAGA CCCACCACAGAGCCAGGCAGGAGTCGGAGCCACGGAGCCAGGCAGGAACT GGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGAGCCAGAGCCACAGAG ACCAGCCACGGAGCCAGGCAGGAACCAGAGCCACAGAGACCAGCCACGGA GCCAGGCAGGAGCCGGAGCCAT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0001 a0011c0010t0001	a0011c0010t0001g0186 a0011c0010t0001g0186	1	235	0.0043	721	c.711 others(740): Show c.7117+7285_7117+7286insATGGCTCCGGCTCCTGCCTGGCTCCG TGGCTGGTCTCTGTGGCTCTGGTTCCTGCCTGGCTCCGTGGCTGGTCTCT GTGGCTCTGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCCAGTT CCTGCCTGGCTCCGTGGCTCCGACTCCTGCCTGGCTCTGTGGTGGGTCTC TGCGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGC CCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCCAGCTCCTGCCTGGCT CCGTGGCTGGTCTCCGTGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTC TCTGTGGCTCCGGCTCCTGCCTGGCTCCATGGCTCCGGCTCCTGCCTGGC TCCGTGGCTGGTCTCTGTGGCTCTGGTTCCTGCCTGGCTCCGTGGCTGGT CTCTGTGGCTCTGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCC GGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCCGGCTCCTGCCTG GCTCCGTGGTGGGTCTCTGCGGCTCCGGCTCCTGCCTGGCTCCGTGGCTG GTCTCCGTGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCT CCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCTCCTGCC TGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCCCCTGCCTGGCTCC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CNTNAP2_chr7_146111801_148425998	147062144	A A	AGAAAAAG others(714): Show AGAAAAAGAAAAAAAACTGCGCAAAAATTACATCAAAATACTAATCATAT TTCTGAGATGGAGTATTATGGATAACCTTTTTTATGTTTTTCTGCATTAA TATTCAATAACTTTATTACTAATATTCAAATATTACTATAATCGCTGAAA GACAAATGCTGTGTGTGTGTATACACTCATGTGTTCCCAGAGACTAGTTG CAATACTTACAGTGGCCCCTGTTTGTATTTCCTCCTCCAAGATTCAGTGA TTCTCTGCTGCTTCTCCTGCAGTCTTGGGAAATTGAATCAATTGGGAATG TGTTGATGGTCCACCTATAAATAATTATCCCCAAATAGTAACCAATTACT TTATTTGAAAACAAAACAAAACAAAAAAACACTAGCTGAATAAACTAGTA TACTTAGTGTTCGAATACTAATAACATAATTCAAAAACAGTTCTTTGGCT GGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTGGGCGGA TCACGAGGTCAGGAGATCGAGACCATCCTGGCTCACACGGTGAAACCCCA TCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTG TAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGTGGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02896.hp1 HG02976.hp1 others(2): Show HG02451.hp1 HG02896.hp1 HG02976.hp1 HG02976.hp2 NA18522.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0001c0013 others(2): Show a0001c0002 a0001c0003 a0001c0013 a0001c0015 a0004c0020	a0001c0002t0001 a0001c0003t0020 a0001c0013t0003 others(2): Show a0001c0002t0001 a0001c0003t0020 a0001c0013t0003 a0001c0015t0001 a0004c0020t0005	a0001c0002t0001g0007 a0001c0003t0020g0017 a0001c0013t0003g0039 others(2): Show a0001c0002t0001g0007 a0001c0003t0020g0017 a0001c0013t0003g0039 a0001c0015t0001g0011 a0004c0020t0005g0016	5	40	0.1250	721	c.550 others(740): Show c.550+18090_550+18091insGAAAAAGAAAAAAAACTGCGCAAAAA TTACATCAAAATACTAATCATATTTCTGAGATGGAGTATTATGGATAACC TTTTTTATGTTTTTCTGCATTAATATTCAATAACTTTATTACTAATATTC AAATATTACTATAATCGCTGAAAGACAAATGCTGTGTGTGTGTATACACT CATGTGTTCCCAGAGACTAGTTGCAATACTTACAGTGGCCCCTGTTTGTA TTTCCTCCTCCAAGATTCAGTGATTCTCTGCTGCTTCTCCTGCAGTCTTG GGAAATTGAATCAATTGGGAATGTGTTGATGGTCCACCTATAAATAATTA TCCCCAAATAGTAACCAATTACTTTATTTGAAAACAAAACAAAACAAAAA AACACTAGCTGAATAAACTAGTATACTTAGTGTTCGAATACTAATAACAT AATTCAAAAACAGTTCTTTGGCTGGGCGCTGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTCACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAG CCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATC ACACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	4/23			chr7	TogoVar
COL6A2_chr21_46093112_46134801	46134455	C C	CAGGTTTA others(714): Show CAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCA GGTTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGG GTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTT TAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCA GGTTTAGGGGTGAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAG GGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGG TGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTC AGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAG GGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGGTCAGGGTCAGGGTGAGGG TGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTGAGGGTC AGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGGTGAG GGTGAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGT TTAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGGTC AGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAG GGTCAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0006 a0001c0028t0006	a0001c0028t0006g0244 a0001c0028t0006g0244	1	316	0.0032	721	c.49 others(732): Show c.4964_*4965insAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGG TCAGGGTGAGGGTCAGGTTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTC AGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAG GGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGT TTAGGGTGAGGGTCAGGTTTAGGGGTGAGGGTCAGGGTCAGGGTCAGGGT CAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCA GGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGG TTTAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGTT TAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGGTCA GGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGG GTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGT GAGGGTCAGGGTGAGGGTGAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTA GGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGG TTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGT GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4655		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134455	C C	CAGGTTTA others(714): Show CAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCA GGTTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGG GTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTT TAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCA GGTTTAGGGGTGAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAG GGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGG TGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTC AGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAG GGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGGTCAGGGTCAGGGTGAGGG TGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTGAGGGTC AGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGGTGAG GGTGAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGT TTAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGGTC AGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAG GGTCAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0001 a0001c0047t0001	a0001c0047t0001g0244 a0001c0047t0001g0244	1	309	0.0032	721	c.19 others(732): Show c.1903_*1904insAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGG TCAGGGTGAGGGTCAGGTTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTC AGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAG GGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGT TTAGGGTGAGGGTCAGGTTTAGGGGTGAGGGTCAGGGTCAGGGTCAGGGT CAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCA GGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGG TTTAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGTT TAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGGTCA GGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGG GTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGT GAGGGTCAGGGTGAGGGTGAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTA GGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGG TTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGT GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1608		chr21	TogoVar

Search by Variant

Search

Search Results