Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GATB_chr4_151665504_151766007	151735734	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG00735.hp2 others(6): Show HG00280.hp2 HG00597.hp1 HG00735.hp2 HG02145.hp2 HG02165.hp1 HG02818.hp1 HG02818.hp2 NA18944.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0089 others(6): Show a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0089 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0168 a0001c0001t0001g0307	9	320	0.0281	30	c.328 others(49): Show c.328-16197_328-16196insTATATATATATATATATATATATATA TATA		GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	2/12						chr4	TogoVar
GATD1_chr11_762222_782487	763220	C C	CCCCGCCC others(23): Show CCCCGCCCTCACCTGCCCCCGCCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03139.hp1 HG03130.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	2	430	0.0047	30	c.76 others(41): Show c.7676_*7677insCGGGTGAGGGCGGGGGCAGGTGAGGGCGGG		GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding					4001		chr11	TogoVar
GBE1_chr3_81484703_81766645	81750611	A A	ATATGTAT others(23): Show ATATGTATATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0112 a0002c0002t0001g0112	1	304	0.0033	30	c.143 others(49): Show c.143+10763_143+10764insCATATATATATACATATATATATATA CATA		GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15						chr3	TogoVar
GBE1_chr3_81484703_81766645	81750611	A A	ATATGTAT others(23): Show ATATGTATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	304	0.0033	30	c.143 others(49): Show c.143+10763_143+10764insCATATATATATACATATATACATATA CATA		GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15						chr3	TogoVar
GBP6_chr1_89359059_89393160	89392463	C C	CAAGTACC others(23): Show CAAGTACCTGTGAGTTCAGAACAAGAGATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0002 a0001c0001t0032g0002	1	452	0.0022	30	c.69 others(41): Show c.6994_*6995insAAGTACCTGTGAGTTCAGAACAAGAGATGA		GBP6	ENSG00000183347.15	transcript	ENST00000370456.5	protein_coding					4304		chr1	TogoVar
GCA_chr2_162339132_162368123	162345093	A A	ATGGTGGT others(23): Show ATGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0139	1	366	0.0027	30	c.27+ others(43): Show c.27+832_27+861dupGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT		GCA	ENSG00000115271.11	transcript	ENST00000437150.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
GCA_chr2_162339132_162368123	162345131	G G	GGTGGTGG others(23): Show GGTGGTGGTGGTGGTGGTGGTGGTTGTGGTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02015.hp2 NA18962.hp2 others(2): Show HG00621.hp2 HG02015.hp2 NA18962.hp2 NA18978.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 others(1): Show a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0003g0048	5	366	0.0137	30	c.27+ others(43): Show c.27+861_27+862insGGTGGTGGTGGTGGTGGTTGTGGTTGTGGT		GCA	ENSG00000115271.11	transcript	ENST00000437150.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
GCH1_chr14_54837017_54907826	54880503	T T	TATATATA others(23): Show TATATATATACTCCATATATATATACACTCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0250 a0001c0001t0010g0251 a0001c0001t0010g0250 a0001c0001t0010g0251	2	346	0.0058	30	c.344 others(49): Show c.344-15068_344-15067insGGAGTGTATATATATATGGAGTATAT ATAT		GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5						chr14	TogoVar
GCK_chr7_44139275_44194439	44174854	C C	CTCTTCTT others(23): Show CTCTTCTTCTTCTTCTTCTCCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	392	0.0026	30	c.45+ others(47): Show c.45+14054_45+14055insAGAAGAAGAAGGAGAAGAAGAAGAAGAA GA		GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9						chr7	TogoVar
GCK_chr7_44139275_44194439	44174915	T T	TCTTCTTC others(23): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA18522.hp2 NA18999.hp2 others(3): Show HG01257.hp2 NA18522.hp2 NA18999.hp2 NA19055.hp1 NA19067.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0002g0070 others(3): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0002g0070 a0001c0001t0002g0126 a0001c0001t0003g0217 a0001c0001t0004g0312	6	392	0.0153	30	c.45+ others(47): Show c.45+13993_45+13994insGAGAAGAAGAAGAAGAAGAAGAAGAAGA AG		GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9						chr7	TogoVar
GCNA_chrX_71573437_71618583	71603978	T T	TTCCCGAC others(23): Show TTCCCGACGACAGCAGTGATGATTCGGAAGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02055.hp1 HG02056.hp1 HG02165.hp2 others(3): Show HG02055.hp1 HG02056.hp1 HG02165.hp2 HG02257.hp1 HG03540.hp1 NA19082.hp1	a0004 a0006 a0004 a0006	a0004c0004 a0006c0006 a0004c0004 a0006c0006	a0004c0004t0001 a0006c0006t0002 a0004c0004t0001 a0006c0006t0002	a0004c0004t0001g0012 a0004c0004t0001g0020 a0004c0004t0001g0024 others(3): Show a0004c0004t0001g0012 a0004c0004t0001g0020 a0004c0004t0001g0024 a0004c0004t0001g0113 a0006c0006t0002g0035 a0006c0006t0002g0036	6	265	0.0226	30	c.823 others(37): Show c.823_852dupCCCGACGACAGCAGTGATGATTCGGAAGCT	p.Pro others(13): Show p.Pro275_Ala284dup	GCNA	ENSG00000147174.12	transcript	ENST00000373696.8	protein_coding	8/13	941/2765	853/2076	285/691		INFO_REALIGN_3_PRIME	chrX	TogoVar
GCNT2_chr6_10516351_10634368	10569235	C C	CCACACAC others(23): Show CCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01361.hp2 HG01517.hp1 others(9): Show HG01074.hp2 HG01361.hp2 HG01517.hp1 HG02273.hp2 HG02300.hp2 HG02922.hp1 HG03130.hp1 HG03139.hp1 NA18522.hp1 NA18980.hp2 NA19060.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0027	a0001c0001t0001g0049 a0001c0001t0001g0105 a0001c0001t0001g0146 others(9): Show a0001c0001t0001g0049 a0001c0001t0001g0105 a0001c0001t0001g0146 a0001c0001t0001g0222 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0002g0148 a0001c0001t0002g0246 a0001c0001t0003g0237 a0001c0001t0004g0314 a0001c0001t0012g0008 a0001c0001t0027g0003	12	324	0.0370	30	c.925 others(49): Show c.925+39409_925+39438dupACACACACACACACACACACACACAC ACAC		GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10569273	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	324	0.0031	30	c.925 others(49): Show c.925+39438_925+39439insACACACACACACACACACACACACAC ACCC		GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10569235	C C	CCACACAC others(23): Show CCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01074.hp2 HG01361.hp1 others(10): Show HG00280.hp2 HG01074.hp2 HG01361.hp1 HG01517.hp1 HG02273.hp1 HG02300.hp2 HG02922.hp1 HG03130.hp2 HG03139.hp1 NA18522.hp1 NA18980.hp1 NA19060.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0015 a0001c0004t0003	a0001c0001t0001g0075 a0001c0001t0001g0103 a0001c0001t0001g0124 others(10): Show a0001c0001t0001g0075 a0001c0001t0001g0103 a0001c0001t0001g0124 a0001c0001t0001g0147 a0001c0001t0001g0181 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0323 a0001c0001t0002g0019 a0001c0001t0002g0237 a0001c0001t0010g0309 a0001c0001t0015g0299 a0001c0004t0003g0330	13	344	0.0378	30	c.919 others(49): Show c.919+11903_919+11932dupACACACACACACACACACACACACAC ACAC		GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10569273	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	344	0.0029	30	c.919 others(49): Show c.919+11932_919+11933insACACACACACACACACACACACACAC ACCC		GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
GCSH_chr16_81076945_81101395	81080667	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01346.hp1 HG02615.hp2 others(3): Show HG00621.hp2 HG01346.hp1 HG02615.hp2 HG03471.hp2 NA18954.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0004t0002 a0002c0002t0002 a0002c0004t0002	a0002c0002t0002g0002 a0002c0004t0002g0014 a0002c0004t0002g0031 others(1): Show a0002c0002t0002g0002 a0002c0004t0002g0014 a0002c0004t0002g0031 a0002c0004t0002g0032	6	354	0.0170	30	c.21 others(41): Show c.2198_*2199insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding					1277		chr16	TogoVar
GDA_chr9_72144440_72257224	72198846	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp2 HG03516.hp1 HG02723.hp1 HG02970.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008	a0001c0001t0002g0235 a0001c0001t0007g0242 a0001c0001t0008g0254 a0001c0001t0002g0235 a0001c0001t0007g0242 a0001c0001t0008g0254	3	312	0.0096	30	c.212 others(47): Show c.212+3273_212+3274insTATATATATATATATATATATATATATA TA		GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
GDF7_chr2_20662144_20684243	20663249	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG02257.hp1 NA19240.hp2 HG01433.hp1 HG02257.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0130 a0001c0001t0008 a0001c0001t0130	a0001c0001t0008g0001 a0001c0001t0130g0004 a0001c0001t0008g0001 a0001c0001t0130g0004	3	442	0.0068	30	c.-39 others(41): Show c.-3991_-3990insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding					3894		chr2	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	424	0.0024	30	c.486 others(47): Show c.486+1166_486+1167insATATATATATATATATATATATATTTTT TT		GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
GEMIN6_chr2_38773210_38790002	38779664	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19075.hp2 NA19010.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0039 a0001c0001t0009g0039	2	412	0.0049	30	c.128 others(45): Show c.128+547_128+548insATATATATATATATATATATTTTTTTTTTT		GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr2	TogoVar
GEN1_chr2_17749138_17793946	17778347	C C	CATGTGTA others(23): Show CATGTGTACATATATGTATATACACACATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0046 a0002c0002t0046	a0002c0002t0046g0083 a0002c0002t0046g0083	1	318	0.0031	30	c.126 others(47): Show c.1264+290_1264+291insACATATATGTATATACACACATATATGT GT		GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
GET4_chr7_871554_901436	876361	A A	ACCCGCCC others(23): Show ACCCGCCCCTGGGTCACGTGTTGCCTGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02717.hp2 HG02647.hp1 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0038 a0001c0003t0006g0038	2	384	0.0052	30	c.-28 others(39): Show c.-285_-284insCCCGCCCCTGGGTCACGTGTTGCCTGCGGG		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding					192		chr7	TogoVar
GET4_chr7_871554_901436	894121	A A	ATTATTAG others(23): Show ATTATTAGATTTCAGAGTTGAGAATTCTGGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	384	0.0026	30	c.895 others(45): Show c.895+151_895+180dupTTATTAGATTTCAGAGTTGAGAATTCTGGC		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0293 a0001c0003t0002g0293	1	412	0.0024	30	c.41 others(41): Show c.4105_*4106insATATATATATTTTTTTTTTTTTTTTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0231 a0001c0003t0001g0231	1	412	0.0024	30	c.41 others(41): Show c.4105_*4106insATATATATATATTTTTTTTTTTTTTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG04184.hp1 NA19070.hp2 HG02071.hp2 HG04184.hp1 NA19070.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0003t0002 a0001c0005t0004 a0001c0003t0001 a0001c0003t0002 a0001c0005t0004	a0001c0003t0001g0209 a0001c0003t0002g0342 a0001c0005t0004g0202 a0001c0003t0001g0209 a0001c0003t0002g0342 a0001c0005t0004g0202	3	412	0.0073	30	c.41 others(41): Show c.4105_*4106insATATATATATATATTTTTTTTTTTTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG03017.hp1 HG00558.hp2 HG03017.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0317 a0001c0003t0002g0318 a0001c0003t0002g0317 a0001c0003t0002g0318	2	412	0.0049	30	c.41 others(41): Show c.4105_*4106insATATATATATATATATTTTTTTTTTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 NA18906.hp1 HG01981.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0002 a0001c0009t0002 a0001c0003t0002 a0001c0009t0002	a0001c0003t0002g0294 a0001c0009t0002g0367 a0001c0003t0002g0294 a0001c0009t0002g0367	2	412	0.0049	30	c.41 others(41): Show c.4105_*4106insATATATATATATATATATTTTTTTTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 NA19081.hp1 HG02723.hp2 NA19081.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0004 a0001c0003t0001 a0001c0005t0004	a0001c0003t0001g0132 a0001c0005t0004g0177 a0001c0003t0001g0132 a0001c0005t0004g0177	2	412	0.0049	30	c.41 others(41): Show c.4105_*4106insATATATATATATATATATATTTTTTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar
GFRA2_chr8_21685398_21793875	21694071	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02896.hp1 NA19058.hp1 HG00733.hp2 HG02896.hp1 NA19058.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0014 a0002c0002 a0005c0014	a0002c0002t0002 a0002c0002t0050 a0005c0014t0003 a0002c0002t0002 a0002c0002t0050 a0005c0014t0003	a0002c0002t0002g0163 a0002c0002t0050g0317 a0005c0014t0003g0199 a0002c0002t0002g0163 a0002c0002t0050g0317 a0005c0014t0003g0199	3	322	0.0093	30	c.127 others(47): Show c.1272+392_1272+393insTATATATATATATATATATATATATATA TA		GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8						chr8	TogoVar
GFRA2_chr8_21685398_21793875	21694075	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03453.hp2 HG03710.hp2 others(1): Show HG00642.hp2 HG03453.hp2 HG03710.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0002 a0002c0002t0003 a0002c0005t0002 a0002c0002t0002 a0002c0002t0003 a0002c0005t0002	a0002c0002t0002g0038 a0002c0002t0002g0128 a0002c0002t0003g0266 others(1): Show a0002c0002t0002g0038 a0002c0002t0002g0128 a0002c0002t0003g0266 a0002c0005t0002g0057	4	322	0.0124	30	c.127 others(47): Show c.1272+388_1272+389insTATATATATATATATATATATATATATA TA		GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8						chr8	TogoVar
GFRA2_chr8_21685398_21793875	21694075	T T	TTATTTAT others(23): Show TTATTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0115 a0002c0002t0002g0115	1	322	0.0031	30	c.127 others(47): Show c.1272+388_1272+389insTATATATATATATATATATATATATAAA TA		GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8						chr8	TogoVar
GGA2_chr16_23458542_23515494	23467387	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp2 HG02015.hp1 HG02451.hp2 others(2): Show HG01255.hp2 HG02015.hp1 HG02451.hp2 NA18957.hp2 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0015 a0002c0003t0041 a0002c0002t0015 a0002c0003t0041	a0002c0002t0015g0194 a0002c0002t0015g0206 a0002c0002t0015g0219 others(2): Show a0002c0002t0015g0194 a0002c0002t0015g0206 a0002c0002t0015g0219 a0002c0002t0015g0223 a0002c0003t0041g0063	5	254	0.0197	30	c.17 others(39): Show c.173_*202dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT		GGA2	ENSG00000103365.15	transcript	ENST00000309859.8	protein_coding	17/17				202		chr16	TogoVar
GGNBP2_chr17_36539919_36594848	36548615	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0022 a0001c0002t0003g0022	1	357	0.0028	30	c.93+ others(45): Show c.93+2806_93+2835dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36575648	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	357	0.0028	30	c.642 others(47): Show c.642-2334_642-2333insATATATATATATATTTTTTTTTTTTTTT TT		GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
GGN_chr19_38379267_38393034	38385765	A A	AGCCGGGG others(23): Show AGCCGGGGATGGGGCCGGGGCCGGGGCCGGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01891.hp2 HG03098.hp2 HG01891.hp2 HG03098.hp2	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0003 a0013c0015t0003	a0013c0015t0003g0014 a0013c0015t0003g0014	2	392	0.0051	30	c.149 others(39): Show c.1496_1497insCCCGGCCCCGGCCCCGGCCCCATCCCCGGC	p.Ala others(43): Show p.Ala499_Pro500insProAlaProAlaProAlaProSerProAla	GGN	ENSG00000179168.15	transcript	ENST00000334928.11	protein_coding	3/4	1637/2245	1496/1959	499/652			chr19	TogoVar
GGT1_chr22_24598193_24633996	24605023	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01884.hp2 HG02109.hp2 others(6): Show HG01099.hp1 HG01884.hp2 HG02109.hp2 HG02145.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02965.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0015 a0002c0002t0004 a0002c0003t0003 a0001c0001t0015 a0002c0002t0004 a0002c0003t0003	a0001c0001t0015g0037 a0002c0002t0004g0035 a0002c0002t0004g0036 others(6): Show a0001c0001t0015g0037 a0002c0002t0004g0035 a0002c0002t0004g0036 a0002c0002t0004g0038 a0002c0002t0004g0039 a0002c0002t0004g0040 a0002c0003t0003g0012 a0002c0003t0003g0013 a0002c0003t0003g0014	9	426	0.0211	30	c.-42 others(49): Show c.-429+1509_-429+1510insTATATATATATATATATATATATATA TATA		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605036	A A	ATATATAT others(23): Show ATATATATATATATTATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0034 a0002c0002t0004g0034	1	426	0.0024	30	c.-42 others(49): Show c.-429+1509_-429+1510insTATATATATATATTATATATATATAT ATAT		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15						chr22	TogoVar
GGT7_chr20_34839720_34877856	34845112	T T	TCACCACC others(23): Show TCACCACCACCACCACCACCACCACCACCAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0091 a0001c0001t0019g0091	1	354	0.0028	30	c.18 others(39): Show c.186_*215dupGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG		GGT7	ENSG00000131067.17	transcript	ENST00000336431.10	protein_coding	15/15				215		chr20	TogoVar
GGTLC2_chr22_22639614_22652898	22645133	C C	CCCCCTCC others(23): Show CCCCCTCCCAAAGTGCTGGCATTACAGGCCT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19240.hp2 NA21309.hp1 HG03486.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312	3	412	0.0073	30	c.-35 others(45): Show c.-35+426_-35+427insCCCTCCCAAAGTGCTGGCATTACAGGCCTC		GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr22	TogoVar
GHR_chr5_42418439_42726878	42419263	T T	TATATATA others(23): Show TATATATATATATATATGTCATATTCATGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG01891.hp2 HG02559.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0021 a0003c0005t0005 a0003c0005t0021	a0003c0005t0005g0034 a0003c0005t0021g0032 a0003c0005t0005g0034 a0003c0005t0021g0032	2	210	0.0095	30	c.-47 others(41): Show c.-4704_-4703insATATATATATATATATGTCATATTCATGAG		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding					4175		chr5	TogoVar
GHR_chr5_42418439_42726878	42576046	T T	TAATAAAA others(23): Show TAATAAAATAAAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0026 a0003c0003t0026	a0003c0003t0026g0196 a0003c0003t0026g0196	1	210	0.0048	30	c.70+ others(47): Show c.70+10129_70+10158dupATAAAATAAAATAAAATAAAATAAAATA AA		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42576099	T T	TAAAATAA others(23): Show TAAAATAAAATAAAATAAAATAAAATAAATA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02027.hp1 HG02083.hp1 others(2): Show HG01258.hp1 HG02027.hp1 HG02083.hp1 NA18995.hp2 NA19006.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0002 a0003c0003 a0001c0004 a0002c0002 a0003c0003	a0001c0004t0012 a0002c0002t0001 a0003c0003t0003 a0001c0004t0012 a0002c0002t0001 a0003c0003t0003	a0001c0004t0012g0177 a0002c0002t0001g0192 a0003c0003t0003g0091 others(2): Show a0001c0004t0012g0177 a0002c0002t0001g0192 a0003c0003t0003g0091 a0003c0003t0003g0153 a0003c0003t0003g0179	5	210	0.0238	30	c.70+ others(47): Show c.70+10158_70+10159insATAAAATAAAATAAAATAAAATAAATAA AA		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42576099	T T	TAAAATAA others(23): Show TAAAATAAAATAAAATAAAATAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02615.hp2 HG00438.hp2 HG02615.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0003 a0002c0002t0001 a0003c0003t0003	a0002c0002t0001g0138 a0003c0003t0003g0164 a0002c0002t0001g0138 a0003c0003t0003g0164	2	210	0.0095	30	c.70+ others(47): Show c.70+10158_70+10159insATAAAATAAAATAAAATAAATAAAATAA AA		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
GIGYF2_chr2_232692331_232865605	232711705	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02717.hp2 NA18942.hp2 others(2): Show HG01943.hp1 HG02717.hp2 NA18942.hp2 NA18953.hp1 NA18953.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0004 a0002c0001t0002 a0002c0001t0004	a0002c0001t0002g0026 a0002c0001t0002g0072 a0002c0001t0002g0073 others(2): Show a0002c0001t0002g0026 a0002c0001t0002g0072 a0002c0001t0002g0073 a0002c0001t0002g0109 a0002c0001t0004g0074	5	376	0.0133	30	c.-44 others(47): Show c.-44+8238_-44+8239insTATATATATATATATATATATATATATA TA		GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	2/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
GIN1_chr5_103081000_103125138	103117581	T T	TATATACA others(23): Show TATATACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00642.hp1 HG01167.hp1 others(23): Show HG00609.hp2 HG00642.hp1 HG01167.hp1 HG01169.hp2 HG02056.hp1 HG02074.hp1 HG02148.hp2 HG02273.hp1 HG02523.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18956.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18990.hp1 NA18995.hp1 NA19011.hp1 NA19068.hp2 NA19075.hp1 NA19075.hp2 NA19081.hp1 NA19082.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0017 a0001c0001t0001 a0002c0002t0002 a0002c0002t0017	a0001c0001t0001g0171 a0002c0002t0002g0004 a0002c0002t0002g0007 others(9): Show a0001c0001t0001g0171 a0002c0002t0002g0004 a0002c0002t0002g0007 a0002c0002t0002g0022 a0002c0002t0002g0043 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0017g0187	26	322	0.0808	30	c.-8+ others(45): Show c.-8+2482_-8+2483insGTGTGTGTGTGTGTGTGTGTGTGTGTATAT		GIN1	ENSG00000145723.17	transcript	ENST00000399004.7	protein_coding	1/7						chr5	TogoVar
GIN1_chr5_103081000_103125138	103117581	T T	TATATATA others(23): Show TATATATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0136 a0002c0002t0002g0136	1	322	0.0031	30	c.-8+ others(45): Show c.-8+2482_-8+2483insGTGTGTGTGTGTGTGTGTGTGTGTATATAT		GIN1	ENSG00000145723.17	transcript	ENST00000399004.7	protein_coding	1/7						chr5	TogoVar
GINS2_chr16_85671198_85693954	85685670	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19058.hp2 HG00408.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0009 a0001c0001t0004 a0001c0002t0009	a0001c0001t0004g0286 a0001c0002t0009g0131 a0001c0001t0004g0286 a0001c0002t0009g0131	2	470	0.0043	30	c.205 others(47): Show c.205+1789_205+1790insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4						chr16	TogoVar
GIPC1_chr19_14472762_14501127	14485702	T T	TATATATA others(23): Show TATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0070 a0001c0003t0002g0070	1	444	0.0023	30	c.-30 others(47): Show c.-30-2697_-30-2696insCTCTCTCTCTCTCTCTCTCTCTATATAT AT		GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	3/8						chr19	TogoVar
GIPC1_chr19_14472762_14501127	14496041	T T	TCCGCCGC others(23): Show TCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00673.hp1 HG02135.hp1 HG00673.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0377 a0001c0001t0028g0378 a0001c0001t0028g0377 a0001c0001t0028g0378	2	444	0.0045	30	c.-20 others(39): Show c.-209_-180dupCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG		GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	1/9				13066		chr19	TogoVar

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