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
FOXN3_chr14_89151177_89422233	89361309	C C	CCACCTCC others(95): Show CCACCTCCACCACCACCTCCACCACTACCACCTCCACCACCACCACCTCC AGCACCACCTCCACCACCACCTCCAGCACCACCTCCACCACTACCACCTC CAG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	215	0.0047	102	c.544 others(121): Show c.544-10502_544-10501insCTGGAGGTGGTAGTGGTGGAGGTGGT GCTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTGG TAGTGGTGGAGGTGGTGGTGGAGGTG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361602	T T	TACCACCT others(95): Show TACCACCTCCACCACTACCACCTCCACCACCACCACCTCCACCACCACCA CCTCCACCACCACCACCTCCAGCACCACCACCACCACCACCTCCACCACT ACC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	104	0.0096	102	c.544 others(121): Show c.544-10795_544-10794insGGTAGTGGTGGAGGTGGTGGTGGTGG TGGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTG GTGGAGGTGGTAGTGGTGGAGGTGGT	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361787	C C	CCTCCACC others(95): Show CCTCCACCACCACCACCTCCAGCACCACCTCCACCACTACCACCTCCAGC ACCACCTCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTC CAG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18995.hp1 NA18964.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0227 a0001c0001t0002g0228 a0001c0001t0001g0227 a0001c0001t0002g0228	2	226	0.0088	102	c.544 others(121): Show c.544-10980_544-10979insCTGGAGGTGGTGGTGGTGGAGGTAGT GCTGGAGGTGGTAGTGGTGGAGGTGGTGCTGGAGGTGGTAGTGGTGGAGG TGGTGCTGGAGGTGGTGGTGGTGGAG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361866	C C	CACCTCCA others(95): Show CACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCA CCACCTCCACCACTACCACCTCCACCACCACCTCCACCACCACCTCCACC ACT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0089 a0001c0001t0007g0089	1	205	0.0049	102	c.544 others(121): Show c.544-11059_544-11058insAGTGGTGGAGGTGGTGGTGGAGGTGG TGGTGGAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTG GTGCTGGAGGTGGTGGTGGTGGAGGT	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362089	A A	AGCACCAC others(95): Show AGCACCACCTCCACCACTACCACCTCCAGCACCACCTCCAGCACCACCTC CACCACCACCTCCACCACTACCACCTCCACCACCACCACCTCCAGCACCA CCT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	222	0.0045	102	c.544 others(121): Show c.544-11282_544-11281insAGGTGGTGCTGGAGGTGGTGGTGGTG GAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGCT GGAGGTGGTAGTGGTGGAGGTGGTGC	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362213	C C	CCACCTCC others(95): Show CCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACTACCTCCACC ACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTC CAG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	219	0.0046	102	c.544 others(121): Show c.544-11406_544-11405insCTGGAGGTGGTAGTGGTGGAGGTGGT GGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTAGTGCTGGAGGTGG TAGTGGTGGAGGTGGTGGTGGAGGTG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXP1_chr3_70949708_71588728	71397036	G G	GTATATAT others(95): Show GTATATATATACACACATATATATGTGTATATATATATACATATATATAT GTGTATATATACATATATATATGTGTATATATATATACACATATATATGT GTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0002 a0001c0001t0067g0002	1	81	0.0123	102	c.-16 others(123): Show c.-167-37793_-167-37792insTACACATATATATGTGTATATATA TATACACATATATATATGTATATATACACATATATATATGTATATATATA TACACATATATATGTGTGTATATATATA	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435438	A A	AGGGAGGG others(95): Show AGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGAC GGAGGGAGGGAGGGAGGAAAAAAGGAGGGAGGGAGGAAGGGACGGAGGGA GGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0002 a0001c0001t0067g0002	1	86	0.0116	102	c.-16 others(123): Show c.-168+57987_-168+57988insCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCTTTTTTCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCG TCCCTCCCTCCCTCCCTCCGTCCCTCCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FRMD3_chr9_83239622_83543401	83479624	A A	AAAGGAAA others(95): Show AAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02559.hp1 HG01169.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0050 a0001c0001t0001 a0001c0002t0050	a0001c0001t0001g0108 a0001c0002t0050g0024 a0001c0001t0001g0108 a0001c0002t0050g0024	2	207	0.0097	102	c.147 others(121): Show c.147+58460_147+58461insCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCCTT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83479624	A A	AAAGGAAA others(95): Show AAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0148 a0001c0001t0062g0148	1	206	0.0049	102	c.147 others(121): Show c.147+58460_147+58461insCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCCTT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83479630	A A	AAGAAAGA others(95): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAGGGAGGGAGGGAGG GAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0099 a0001c0001t0018g0099	1	208	0.0048	102	c.147 others(121): Show c.147+58454_147+58455insCTCCCTCCCTCCCTCCCTCCCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83479630	A A	AAGAAAGA others(95): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGGGAGGGAGGGAGGGAGGGAGGGAGG GAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18984.hp2 HG03453.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0007 a0001c0001t0006 a0001c0002t0007	a0001c0001t0006g0029 a0001c0002t0007g0226 a0001c0001t0006g0029 a0001c0002t0007g0226	2	209	0.0096	102	c.147 others(121): Show c.147+58454_147+58455insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83479630	A A	AAGAAAGA others(95): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02896.hp1 HG02615.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0040 a0001c0001t0011 a0001c0001t0040	a0001c0001t0011g0042 a0001c0001t0040g0041 a0001c0001t0011g0042 a0001c0001t0040g0041	2	209	0.0096	102	c.147 others(121): Show c.147+58454_147+58455insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD5_chr15_43865764_44200271	43999923	G G	GTATATAT others(95): Show GTATATATATATATATATATATGCCATGCATATATATATATATATATGCC ATGCATATATATATATATATATGCCATGCATATATATATATATATGCCAT GCA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18967.hp2 NA18951.hp2 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0099 a0001c0002t0002g0100	2	70	0.0286	102	c.103 others(121): Show c.103-75615_103-75614insTGCATGGCATATATATATATATATGC ATGGCATATATATATATATATATGCATGGCATATATATATATATATATGC ATGGCATATATATATATATATATATA	FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	1/13			chr15	TogoVar
FRMD5_chr15_43865764_44200271	43999924	T T	TATATATA others(95): Show TATATATATATATATATATATGCCATGCATATATATATATATATATATGC CATGCATATATATATATATATATGCCATGCATATATATATATATATGCCA TGC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0092 a0001c0002t0002g0092	1	139	0.0072	102	c.103 others(121): Show c.103-75616_103-75615insGCATGGCATATATATATATATATGCA TGGCATATATATATATATATATGCATGGCATATATATATATATATATATG CATGGCATATATATATATATATATAT	FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	1/13			chr15	TogoVar
FRMPD4_chrX_12133473_12729523	12382530	G G	GCATAGAG others(95): Show GCATAGAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGAGCATAGCATAGCATAGCATAGCATAG CAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0014 a0001c0001t0006g0015 a0001c0001t0006g0014 a0001c0001t0006g0015	2	27	0.0741	102	c.42- others(121): Show c.42-116150_42-116149insCATAGAGCATAGCATAGCATAGCATA GCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGAGCA TAGCATAGCATAGCATAGCATAGCAT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16			chrX	TogoVar
FSTL5_chr4_161378897_162169000	161783677	C C	CCCTTCCT others(95): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTCTTTCTTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18945.hp1 HG03471.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0021 a0001c0001t0001 a0001c0002t0021	a0001c0001t0001g0035 a0001c0002t0021g0138 a0001c0001t0001g0035 a0001c0002t0021g0138	2	90	0.0222	102	c.410 others(119): Show c.410-7604_410-7603insAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAGAAAGG AAGGAAGGAAGGAAGGAAGGAAGG	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	4/15			chr4	TogoVar
FTCD_chr21_46131779_46160579	46134455	C C	CAGGGTCA others(95): Show CAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTA GGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGG TTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG02922.hp2 HG04184.hp1 others(2): Show HG00673.hp1 HG02922.hp2 HG04184.hp1 NA18971.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0004 a0001c0001 a0001c0010 a0002c0004	a0001c0001t0003 a0001c0001t0005 a0001c0010t0003 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0010t0003 a0002c0004t0005	a0001c0001t0003g0110 a0001c0001t0005g0008 a0001c0001t0005g0210 others(2): Show a0001c0001t0003g0110 a0001c0001t0005g0008 a0001c0001t0005g0210 a0001c0010t0003g0191 a0002c0004t0005g0203	5	208	0.0240	102	c.25 others(113): Show c.2531_*2532insAAACCTGACCCTCACCCTCACCCTGACCCTAAAC CTGACCCTCACCCTGACCCTAAACCTGACCCTCACCCTGACCCTAAACCT GACCCTCACCCTGACCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2323		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134501	G G	GTCAGGTT others(95): Show GTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGT GAGGGTGAGGTTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCA GGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	220	0.0045	102	c.24 others(113): Show c.2485_*2486insACCTGACCCTCACCCTCACCCTGACCCTAAACCT GACCCTCAACCTCACCCTCACCCTCACCCTGACCCTAAACCTGACCCTCA CCCTGACCCTAAACCTGA	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2277		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134551	G G	GAGGGTCA others(95): Show GAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCA GGTTTAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTCAGG TTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG00438.hp2 HG00639.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0051 a0002c0004t0001g0099 a0001c0001t0001g0051 a0002c0004t0001g0099	2	140	0.0143	102	c.24 others(113): Show c.2435_*2436insAAACCTGACCCTCACCCTCACCCTAAACCTGACC CTCACCCTCACCCTAAACCTGACCCTCACCCTCACCCTCACCCTGACCCT CACCCTAAACCTGACCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2227		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134551	G G	GAGGGTGA others(95): Show GAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCA GGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGG TTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0118 a0003c0012t0001g0118	1	139	0.0072	102	c.24 others(113): Show c.2435_*2436insAAACCTGACCCTCACCCTCACCCTGACCCTAAAC CTGACCCTCACCCTCACCCTGACCCTAAACCTGACCCTCACCCTCACCCT CACCCTCACCCTCACCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2227		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134695	T T	TAGGGTCA others(95): Show TAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTA GGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGG GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0210 a0001c0001t0005g0210	1	84	0.0119	102	c.22 others(113): Show c.2291_*2292insCACCCTCACCCTCACCCTCACCCTCACCCTCACC CTCACCCTGACCCTCACCCTAAACCTGACCCTGACCCTGACCCTGACCCT AAACCTGACCCTGACCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2083		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134695	T T	TAGGGTCA others(95): Show TAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCA GGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGG GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 NA18966.hp2 NA18970.hp1 HG00673.hp1 NA18966.hp2 NA18970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0005 a0002c0004t0003 a0002c0004t0005 a0001c0001t0005 a0002c0004t0003 a0002c0004t0005	a0001c0001t0005g0211 a0002c0004t0003g0068 a0002c0004t0005g0203 a0001c0001t0005g0211 a0002c0004t0003g0068 a0002c0004t0005g0203	3	86	0.0349	102	c.22 others(113): Show c.2291_*2292insCACCCTCACCCTCACCCTCACCCTCACCCTGACC CTCACCCTAAACCTGACCCTGACCCTGACCCTGACCCTAAACCTGACCCT AAACCTGACCCTGACCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2083		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134695	T T	TAGGGTCA others(95): Show TAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCA GGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGG GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0088 a0002c0004t0003g0088	1	84	0.0119	102	c.22 others(113): Show c.2291_*2292insCACCCTCACCCTCACCCTCACCCTCACCCTCACC CTGACCCTCACCCTAAACCTGACCCTGACCCTGACCCTAAACCTGACCCT AAACCTGACCCTGACCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2083		chr21	TogoVar
GABARAPL1_chr12_10207877_10228128	10209908	A A	AGGCCAAG others(95): Show AGGCCAAGAGGGCTGGAAGAGGCTGAGGTCACTGGAGGTTCAGGACGTTC GCACCATCCCCTCCAACAGGTGACAGACCCGTCCCCTCGACTAGAACGGG GAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0071 a0001c0001t0005g0071	1	446	0.0022	102	c.-32 others(113): Show c.-3222_-3221insGGCCAAGAGGGCTGGAAGAGGCTGAGGTCACTGG AGGTTCAGGACGTTCGCACCATCCCCTCCAACAGGTGACAGACCCGTCCC CTCGACTAGAACGGGGAG	GABARAPL1	ENSG00000139112.11	transcript	ENST00000266458.10	protein_coding		2968		chr12	TogoVar
GABRG1_chr4_46030769_46129054	46117784	G G	GTATATAC others(95): Show GTATATACATATATACATATGTATACATGTGTATCTATATACATATATAC ATATGTATACATGTGTATCTATATACATATATACATATGTATACATGTGT ATC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG01109.hp1 others(35): Show HG00597.hp2 HG00609.hp2 HG01109.hp1 HG01346.hp1 HG01516.hp2 HG01928.hp1 HG01934.hp1 HG02015.hp2 HG02071.hp1 HG02129.hp2 HG02293.hp2 HG02976.hp2 HG03654.hp2 HG03688.hp2 NA18612.hp2 NA18747.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18951.hp1 NA18954.hp1 NA18965.hp2 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp2 NA18999.hp2 NA19004.hp2 NA19010.hp1 NA19063.hp1 NA19070.hp2 NA19078.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0008 a0001c0001 a0001c0002 a0005c0008	a0001c0001t0001 a0001c0001t0010 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0002 a0001c0002t0003 a0001c0002t0013 a0001c0002t0023 a0005c0008t0003	a0001c0001t0001g0071 a0001c0001t0001g0239 a0001c0001t0001g0241 others(32): Show a0001c0001t0001g0071 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0010g0257 a0001c0002t0002g0009 a0001c0002t0002g0191 a0001c0002t0002g0193 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0235 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0243 a0001c0002t0002g0258 a0001c0002t0002g0263 a0001c0002t0003g0010 a0001c0002t0003g0011 a0001c0002t0003g0070 a0001c0002t0003g0093 a0001c0002t0003g0094 a0001c0002t0003g0194 a0001c0002t0003g0195 a0001c0002t0003g0227 a0001c0002t0003g0232 a0001c0002t0003g0236 a0001c0002t0003g0252 a0001c0002t0003g0253 a0001c0002t0003g0254 a0001c0002t0003g0265 a0001c0002t0013g0189 a0001c0002t0013g0190 a0001c0002t0023g0255 a0005c0008t0003g0196	38	153	0.2484	102	c.104 others(119): Show c.104+5924_104+6025dupGATACACATGTATACATATGTATATATG TATATAGATACACATGTATACATATGTATATATGTATATAGATACACATG TATACATATGTATATATGTATATA	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	1/8			chr4	TogoVar
GABRG1_chr4_46030769_46129054	46118024	A A	ATATACAT others(95): Show ATATACATATATACATATGTATACATGTGTATCTATATACATATATACAT ATGTATACATGTGTATCTATATACATATATACATATGTATACATGTGTGT ATG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03942.hp1 HG02922.hp1 HG03942.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0141 a0004c0005t0001g0207 a0001c0001t0001g0141 a0004c0005t0001g0207	2	302	0.0066	102	c.104 others(119): Show c.104+5785_104+5786insCATACACACATGTATACATATGTATATA TGTATATAGATACACATGTATACATATGTATATATGTATATAGATACACA TGTATACATATGTATATATGTATA	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	1/8			chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172546820	G G	GTATATAT others(95): Show GTATATATATACGTATATATATGTGTATATATATACGTATATATATACGC ATATATATACTTATATACGTATATATATACGTATATATGTATATATATAC ATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp2 HG02976.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0020 a0001c0001t0007g0006 a0001c0001t0006g0020 a0001c0001t0007g0006	2	10	0.2000	102	c.553 others(123): Show c.553+198136_553+198137insATATACGTATATATATGTGTATAT ATATACGTATATATATACGCATATATATACTTATATACGTATATATATAC GTATATATGTATATATATACATATATAT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GCNT2_chr6_10516351_10634368	10616183	C C	CGTTATAT others(95): Show CGTTATATCTTTCAAGGCGGTGCGTTTGGAATTGTTTGTTCCTACCAGTG GGTTCGTGGTTTTGCTGGCTTCAGGAGTAAAGATGCAGACCTTCGTGGTG AGT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	321	0.0031	102	c.926 others(119): Show c.926-5087_926-5086insATGCAGACCTTCGTGGTGAGTGTTATAT CTTTCAAGGCGGTGCGTTTGGAATTGTTTGTTCCTACCAGTGGGTTCGTG GTTTTGCTGGCTTCAGGAGTAAAG	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10616183	C C	CGTTATAT others(95): Show CGTTATATCTTTCAAGGCGGTGCGTTTGGAATTGTTTGTTCCTACCAGTG GGTTCGTGGTTTTGCTGGCTTCAGGAGTAAAGATGCAGACCTTCGTGGTG AGT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02698.hp2 HG01070.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0241 a0001c0001t0001g0243	2	339	0.0059	102	c.920 others(119): Show c.920-5087_920-5086insATGCAGACCTTCGTGGTGAGTGTTATAT CTTTCAAGGCGGTGCGTTTGGAATTGTTTGTTCCTACCAGTGGGTTCGTG GTTTTGCTGGCTTCAGGAGTAAAG	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GGA2_chr16_23458542_23515494	23511014	A A	AGTGTGTG others(95): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0044 a0004c0007t0044	a0004c0007t0044g0059 a0004c0007t0044g0059	1	252	0.0040	102	c.-60 others(111): Show c.-604_-603insACACACACACACACACACACACACACACACACACAC ACACACACACACACACACACACACACACACACACACACACACACACACAC ACACACACACACACAC	GGA2	ENSG00000103365.15	transcript	ENST00000309859.8	protein_coding		521		chr16	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(95): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAG AAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0061 a0001c0003t0002g0061	1	220	0.0045	102	c.204 others(117): Show c.204+500_204+501insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAG AGAGAAAGAAAGAAAGAAAGAA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GLB1L3_chr11_134271379_134324564	134308208	C C	CCACCACC others(95): Show CCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACC ATCATCACCATCACCACCATCACCACCACCACCACCACCACCACCACCAC CAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0294 a0001c0002t0002g0294	1	373	0.0027	102	c.961 others(119): Show c.961+1008_961+1009insCCACCACCACCATCACCACCATCACCAC CACCACCACCACCATCATCACCATCACCACCATCACCACCACCACCACCA CCACCACCACCACCATCACCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GMEB2_chr20_63582605_63632101	63607369	A A	ACCCCACA others(95): Show ACCCCACATCCATTTCTAGAAACATGCCCCTGACCCCACATCCATTTCTA GAAACATGCCCCTCTGACCCACACCTCCATTTCTAGAAACATGCCCCTCT GAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0035 a0001c0007t0007g0035	1	313	0.0032	102	c.132 others(119): Show c.132-2530_132-2529insGTCAGAGGGGCATGTTTCTAGAAATGGA GGTGTGGGTCAGAGGGGCATGTTTCTAGAAATGGATGTGGGGTCAGGGGC ATGTTTCTAGAAATGGATGTGGGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608891	C C	CCCCTGAC others(95): Show CCCCTGACCCCACACATCCATTTCTAGAAACATGTCCCTCTGACCCACCT CCATTTCCAGAAACATGCCCCTCTGACCCACACATCCATTTCTAGAAACA TGT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0164 a0001c0003t0024g0164	1	326	0.0031	102	c.132 others(119): Show c.132-4052_132-4051insACATGTTTCTAGAAATGGATGTGTGGGT CAGAGGGGCATGTTTCTGGAAATGGAGGTGGGTCAGAGGGACATGTTTCT AGAAATGGATGTGTGGGGTCAGGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608934	C C	CCTCACCT others(95): Show CCTCACCTCCATTTCTAGAAACATGCCCCTCTGACCCACACATCCATTTC TAGAAATATGCCCCTGACCCCACACATCCATTTCTAGAAACATGTCCCTC TGA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0291 a0001c0003t0026g0291	1	258	0.0039	102	c.132 others(119): Show c.132-4095_132-4094insTCAGAGGGACATGTTTCTAGAAATGGAT GTGTGGGGTCAGGGGCATATTTCTAGAAATGGATGTGTGGGTCAGAGGGG CATGTTTCTAGAAATGGAGGTGAG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GNG8_chr19_46628953_46641202	46634340	C C	CCCCCTCG others(95): Show CCCCCTCGTCCTGGCCCCTCCCCTGTCCTACCCCGCCCCTCGTCCTGGCC CCTCCCCTGTCCTACCCCGCCCCTCGTCCTGGCCCCTCCCCTGTCCTACC CCG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	436	0.0023	102	c.85- others(115): Show c.85-137_85-136insCGGGGTAGGACAGGGGAGGGGCCAGGACGAGG GGCGGGGTAGGACAGGGGAGGGGCCAGGACGAGGGGCGGGGTAGGACAGG GGAGGGGCCAGGACGAGGGG	GNG8	ENSG00000167414.5	transcript	ENST00000693335.1	protein_coding	2/2			chr19	TogoVar
GOLGA8A_chr15_34374068_34442808	34437425	C C	CCGCCGCC others(95): Show CCGCCGCCGTCCTCGCCGCGCCGCCGTCCTCGCCGCGCCGCCGTCCTCGC CGCGCCGCCGTCCTCGCCGCGCCGCCGTCCTCGCCGCGCCGCCGTCCTCG CCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00323.hp2 HG02615.hp2 HG04228.hp2 others(5): Show HG00323.hp2 HG02615.hp2 HG04228.hp2 NA18939.hp1 NA18965.hp2 NA18998.hp2 NA19000.hp1 NA21309.hp1	a0001 a0003 a0016 a0001 a0003 a0016	a0001c0001 a0003c0003 a0016c0022 a0001c0001 a0003c0003 a0016c0022	a0001c0001t0001 a0001c0001t0015 a0001c0001t0016 others(4): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0016 a0001c0001t0029 a0001c0001t0036 a0003c0003t0001 a0016c0022t0018	a0001c0001t0001g0066 a0001c0001t0001g0088 a0001c0001t0015g0063 others(5): Show a0001c0001t0001g0066 a0001c0001t0001g0088 a0001c0001t0015g0063 a0001c0001t0016g0077 a0001c0001t0029g0067 a0001c0001t0036g0061 a0003c0003t0001g0135 a0016c0022t0018g0108	8	83	0.0964	102	c.-13 others(113): Show c.-1341_-1240dupCGGCGAGGACGGCGGCGCGGCGAGGACGGCGGCG CGGCGAGGACGGCGGCGCGGCGAGGACGGCGGCGCGGCGAGGACGGCGGC GCGGCGAGGACGGCGGCG	GOLGA8A	ENSG00000175265.19	transcript	ENST00000359187.5	protein_coding	1/25	47735		chr15	TogoVar
GPALPP1_chr13_44984538_45035305	45018970	C C	CATATATA others(95): Show CATATATACATATAAATATATATACATATAAATATATAAATATATATACA TATAAATATATAAATATATATACATATAAATATATAAATATATACATATA AAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0301 a0001c0001t0015g0301	1	155	0.0065	102	c.706 others(119): Show c.706-1355_706-1354insTACATATAAATATATATACATATAAATA TATAAATATATATACATATAAATATATAAATATATATACATATAAATATA TAAATATATACATATAAATATATA	GPALPP1	ENSG00000133114.18	transcript	ENST00000379151.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC1_chr2_240430663_240473076	240472226	C C	CACGGCCG others(95): Show CACGGCCGCACGCGGGGAGGCAGGCCTACCAATCCACGGCCGCACGCGGG GAGGCAGGCCTACCAATCCACGGCCGCACGCGGGGAGGCAGGCCTACCAA TCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02922.hp1 others(2): Show HG02896.hp2 HG02897.hp1 HG02922.hp1 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0029 a0001c0005t0005g0047 a0001c0005t0005g0071 others(1): Show a0001c0005t0005g0029 a0001c0005t0005g0047 a0001c0005t0005g0071 a0001c0005t0005g0335	5	358	0.0140	102	c.59 others(113): Show c.5936_*5937insACGGCCGCACGCGGGGAGGCAGGCCTACCAATCC ACGGCCGCACGCGGGGAGGCAGGCCTACCAATCCACGGCCGCACGCGGGG AGGCAGGCCTACCAATCA	GPC1	ENSG00000063660.9	transcript	ENST00000264039.7	protein_coding		4151		chr2	TogoVar
GPC1_chr2_240430663_240473076	240472226	C C	CACGGCCG others(95): Show CACGGCCGCACGCGGGGAGGCAGGCCTACCAATCCACGGCCGCACGCGGG GAGGCAGGCCTACCAATCTACGGCCGCACGCGGGGAGGCAGGCCTACCAA TCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0295 a0001c0006t0008g0295	1	354	0.0028	102	c.59 others(113): Show c.5936_*5937insACGGCCGCACGCGGGGAGGCAGGCCTACCAATCC ACGGCCGCACGCGGGGAGGCAGGCCTACCAATCTACGGCCGCACGCGGGG AGGCAGGCCTACCAATCT	GPC1	ENSG00000063660.9	transcript	ENST00000264039.7	protein_coding		4151		chr2	TogoVar
GPHN_chr14_66503147_67186803	66683371	T T	TGTTCATA others(95): Show TGTTCATATATATATGTTCATATATATATGTTCATATATATGTATATGTT CATATATATGTACATATATATGTTCATATATATATGTTCATATATATATG TTC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02970.hp1 HG03225.hp2 others(2): Show HG02015.hp1 HG02970.hp1 HG03225.hp2 HG03927.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0025 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0125	5	210	0.0238	102	c.143 others(119): Show c.143+2186_143+2187insGTTCATATATATATGTTCATATATATAT GTTCATATATATGTATATGTTCATATATATGTACATATATATGTTCATAT ATATATGTTCATATATATATGTTC	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22			chr14	TogoVar
GPIHBP1_chr8_143208218_143222170	143218210	A A	ACACACCA others(95): Show ACACACCAGCCCCAACACCACCCCCAACACCAGCCCCAACACCACCCCAA TACCTCCCCAACACCACCCCCACCACCACCCCCACCACCCCCACACCACC CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0002 a0001c0003t0010g0002	1	99	0.0101	102	c.26 others(113): Show c.2692_*2693insCACACCAGCCCCAACACCACCCCCAACACCAGCC CCAACACCACCCCAATACCTCCCCAACACCACCCCCACCACCACCCCCAC CACCCCCACACCACCCCC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1041		chr8	TogoVar
GPIHBP1_chr8_143208218_143222170	143218313	A A	ACACTGCC others(95): Show ACACTGCCCCCACACCAGCCCCAACACCACCCCCAACACCAGCCCCAACA CCACCCCAATACCTCCCCAACACCACCCCCAACACCACCCAACACCATGC CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG03225.hp1 NA19030.hp2 HG02280.hp2 HG03225.hp1 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0002 a0001c0003t0003g0018 a0001c0003t0003g0002 a0001c0003t0003g0018	3	69	0.0435	102	c.27 others(113): Show c.2795_*2796insCACTGCCCCCACACCAGCCCCAACACCACCCCCA ACACCAGCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACAC CACCCAACACCATGCCCC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1144		chr8	TogoVar
GPRC5A_chr12_12886562_12922937	12914549	C C	CTTCCTTC others(95): Show CTTCCTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTT TCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0122 a0002c0003t0122	a0002c0003t0122g0215 a0002c0003t0122g0215	1	190	0.0053	102	c.20 others(113): Show c.2013_*2014insCTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTC TTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTCTTTCTTTC	GPRC5A	ENSG00000013588.10	transcript	ENST00000014914.6	protein_coding	4/4	2014	INFO_REALIGN_3_PRIME	chr12	TogoVar
GREM2_chr1_240484573_240617155	240536567	G G	GGAGTTTA others(95): Show GGAGTTTAAGACAAAATGGCAGCGGGGGCTGTAGATCTGGAAGCCATCTG TAGAGTTTAAGACAAAATGGCAGCGGGGGCTGTAGATCTGGAAGCCATCT GTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp2 HG00733.hp2 others(26): Show HG00597.hp2 HG00639.hp2 HG00733.hp2 HG00738.hp2 HG01071.hp2 HG02129.hp1 HG02258.hp1 HG02486.hp2 HG02738.hp2 HG02809.hp1 HG02922.hp2 HG03225.hp1 HG03579.hp1 HG04199.hp1 NA18906.hp2 NA18943.hp2 NA18948.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18963.hp2 NA18982.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA19063.hp2 NA19079.hp1 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0051 a0001c0001t0054	a0001c0001t0001g0046 a0001c0001t0001g0083 a0001c0001t0001g0084 others(26): Show a0001c0001t0001g0046 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0001g0217 a0001c0001t0002g0049 a0001c0001t0002g0125 a0001c0001t0002g0154 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0005g0013 a0001c0001t0005g0016 a0001c0001t0006g0019 a0001c0001t0006g0142 a0001c0001t0007g0374 a0001c0001t0008g0075 a0001c0001t0008g0107 a0001c0001t0008g0116 a0001c0001t0009g0017 a0001c0001t0011g0069 a0001c0001t0016g0003 a0001c0001t0017g0001 a0001c0001t0017g0005 a0001c0001t0018g0298 a0001c0001t0022g0266 a0001c0001t0022g0308 a0001c0001t0051g0114 a0001c0001t0054g0342	29	135	0.2148	102	c.-1- others(119): Show c.-1-43193_-1-43092dupTACAGATGGCTTCCAGATCTACAGCCCC CGCTGCCATTTTGTCTTAAACTCTACAGATGGCTTCCAGATCTACAGCCC CCGCTGCCATTTTGTCTTAAACTC	GREM2	ENSG00000180875.5	transcript	ENST00000318160.5	protein_coding	1/1			chr1	TogoVar
GREM2_chr1_240484573_240617155	240536691	C C	CGGGGGCT others(95): Show CGGGGGCTGTAGATCTGGAAGCCATCTGTAGAGTTTAAGACAAAATGGCA GCGGGGGCTGTAGATCTGGAAGCCATCTGTAGAGTTTAAGACAAAATGGC AGT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	364	0.0027	102	c.-1- others(119): Show c.-1-43216_-1-43215insACTGCCATTTTGTCTTAAACTCTACAGA TGGCTTCCAGATCTACAGCCCCCGCTGCCATTTTGTCTTAAACTCTACAG ATGGCTTCCAGATCTACAGCCCCC	GREM2	ENSG00000180875.5	transcript	ENST00000318160.5	protein_coding	1/1			chr1	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TATTAATA others(95): Show TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02145.hp2 HG02559.hp1 others(14): Show HG02129.hp2 HG02145.hp2 HG02559.hp1 HG02615.hp1 HG02683.hp1 HG02717.hp2 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03471.hp1 HG03516.hp1 HG03669.hp2 NA19240.hp1	a0002 a0005 a0013 a0002 a0005 a0013	a0002c0002 a0005c0009 a0013c0014 a0002c0002 a0005c0009 a0013c0014	a0002c0002t0003 a0005c0009t0003 a0013c0014t0003 a0002c0002t0003 a0005c0009t0003 a0013c0014t0003	a0002c0002t0003g0006 a0002c0002t0003g0052 a0002c0002t0003g0053 others(14): Show a0002c0002t0003g0006 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0144 a0002c0002t0003g0146 a0002c0002t0003g0147 a0002c0002t0003g0152 a0002c0002t0003g0153 a0002c0002t0003g0206 a0002c0002t0003g0232 a0002c0002t0003g0233 a0002c0002t0003g0234 a0005c0009t0003g0145 a0005c0009t0003g0151 a0013c0014t0003g0006 a0013c0014t0003g0149	17	150	0.1133	102	c.-28 others(113): Show c.-2852_-2851insATTAATATATAGTAACTATATTAATAATATAGTT AGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAAT ATATAGTAACTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
GRK5_chr10_119202571_119464745	119313034	G G	GGTGATGG others(95): Show GGTGATGGTGGTGGTGGTAATGATGATGGTGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGATGGTAATGATGGTAGTGGTGATGGTGGTGGTAATG GTA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0109 a0003c0002t0003g0109	1	200	0.0050	102	c.53- others(119): Show c.53-13392_53-13391insGTGGTAATGGTAGTGATGGTGGTGGTGG TAATGATGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATG GTAATGATGGTAGTGGTGATGGTG	GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
GRK5_chr10_119202571_119464745	119313038	A A	ATGGTGGT others(95): Show ATGGTGGTGGTGGTAATGATGATGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGATGATGGTAATGATGGTAGTGGTGATGGTGGTGGTAATGGTAG TGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0114 a0001c0001t0022g0114	1	199	0.0050	102	c.53- others(119): Show c.53-13422_53-13421insATGATGGTAATGATGGTAGTGGTGATGG TGGTGGTAATGGTAGTGGTGGTGGTGGTGGTAATGATGATGGTGGTGGTG ATGGTGGTGGTGGTGGTGATGGTG	GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results