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
GDNF_chr5_37807677_37845041	37815487	T T	TTCCTCCT others(14): Show TTCCTCCTCCTCCTCCTCCTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp2 HG02622.hp2 HG02896.hp2 others(6): Show HG02486.hp2 HG02622.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03579.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0049 a0001c0001t0100 a0001c0002t0024 others(2): Show a0001c0001t0049 a0001c0001t0100 a0001c0002t0024 a0001c0002t0033 a0001c0002t0057	a0001c0001t0049g0252 a0001c0001t0049g0258 a0001c0001t0100g0260 others(5): Show a0001c0001t0049g0252 a0001c0001t0049g0258 a0001c0001t0100g0260 a0001c0002t0024g0033 a0001c0002t0024g0068 a0001c0002t0033g0069 a0001c0002t0033g0072 a0001c0002t0057g0070	9	430	0.0209	21	c.14 others(30): Show c.143_*163dupGGAGGAGGAGGAGGAGGAGGA		GDNF	ENSG00000168621.15	transcript	ENST00000326524.7	protein_coding	3/3				163		chr5	TogoVar
GDPD1_chr17_59215511_59280970	59222505	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0163 a0001c0001t0004g0163	1	312	0.0032	21	c.142 others(38): Show c.142+1760_142+1780dupTTTTTTTTTTTTTTTTTTTTT		GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr17	TogoVar
GDPD1_chr17_59215511_59280970	59255758	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0248 a0001c0001t0009g0248	1	312	0.0032	21	c.368 others(38): Show c.368-1364_368-1363insTATATATATATATATATATAT		GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	4/9						chr17	TogoVar
GDPD1_chr17_59215511_59280970	59255762	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0081 a0001c0001t0010g0081	1	312	0.0032	21	c.368 others(38): Show c.368-1359_368-1358insAAAAAAATATATATATATATA		GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr17	TogoVar
GDPD3_chr16_30099810_30118537	30110860	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp1 HG02559.hp1 others(2): Show HG00735.hp1 HG01243.hp1 HG02559.hp1 HG02818.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0019 a0001c0001t0001g0078 a0001c0001t0001g0079	5	390	0.0128	21	c.707 others(36): Show c.707+527_707+528insTTTTTTTTTTTTTTTTTTTTT		GDPD3	ENSG00000102886.15	transcript	ENST00000406256.8	protein_coding	7/9						chr16	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	424	0.0024	21	c.486 others(38): Show c.486+1166_486+1167insATATATATATATATATATTTT		GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	424	0.0024	21	c.486 others(38): Show c.486+1166_486+1167insATATATATATATATATTTTTT		GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
GEMIN2_chr14_39109323_39141973	39123709	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	424	0.0024	21	c.486 others(38): Show c.486+1166_486+1167insATATATATATATATATATATA		GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9						chr14	TogoVar
GEMIN2_chr14_39109323_39141973	39127145	A A	AAGCGGCA others(14): Show AAGCGGCAGGATCTCAGCTCAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	424	0.0024	21	c.532 others(38): Show c.532-1134_532-1114dupAGCGGCAGGATCTCAGCTCAC		GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
GEN1_chr2_17749138_17793946	17793292	A A	AGGTTTTA others(14): Show AGGTTTTAGTTCTGCTCGCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	318	0.0031	21	c.11 others(34): Show c.11353_*11354insGGTTTTAGTTCTGCTCGCTCC		GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding					4347		chr2	TogoVar
GET4_chr7_871554_901436	900659	A A	AGGGCTGG others(14): Show AGGGCTGGGGGTCCCCACAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0130	1	384	0.0026	21	c.52 others(32): Show c.5237_*5238insGGGCTGGGGGTCCCCACAGAG		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding					4224		chr7	TogoVar
GET4_chr7_871554_901436	900661	C C	CGCTTGGG others(14): Show CGCTTGGGGTCCCCACAGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	384	0.0026	21	c.52 others(32): Show c.5239_*5240insGCTTGGGGTCCCCACAGAGGG		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding					4226		chr7	TogoVar
GET4_chr7_871554_901436	900664	T T	TGGGGTCC others(14): Show TGGGGTCCCCACAGAGGGGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0291 a0001c0005t0011g0291	1	384	0.0026	21	c.52 others(32): Show c.5242_*5243insGGGGTCCCCACAGAGGGGCTG		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding					4229		chr7	TogoVar
GET4_chr7_871554_901436	900669	T T	TCCCCACA others(14): Show TCCCCACAGAGGGGCTGGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	384	0.0026	21	c.52 others(32): Show c.5247_*5248insCCCCACAGAGGGGCTGGGGTC		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding					4234		chr7	TogoVar
GET4_chr7_871554_901436	900684	T T	TGGGGTCC others(14): Show TGGGGTCCCCACAGAGGGGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0055 a0001c0001t0014g0055	1	384	0.0026	21	c.52 others(32): Show c.5262_*5263insGGGGTCCCCACAGAGGGGCTG		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding					4249		chr7	TogoVar
GFI1_chr1_92468043_92491925	92482940	G G	GCTGTCTG others(14): Show GCTGTCTGGGGATGCGGAGGCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02818.hp2 HG02818.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0018 a0004c0008t0018	a0004c0008t0018g0101 a0004c0008t0018g0101	1	342	0.0029	21	c.201 others(28): Show c.201_221dupAGCCTCCGCATCCCCAGACAG	p.Arg others(11): Show p.Arg67_Asp73dup	GFI1	ENSG00000162676.13	transcript	ENST00000294702.6	protein_coding	3/7	520/4554	221/1269	74/422			chr1	TogoVar
GFOD1_chr6_13352830_13492600	13409132	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0120 a0001c0001t0120	a0001c0001t0120g0187 a0001c0001t0120g0187	1	230	0.0044	21	c.254 others(40): Show c.254-43471_254-43470insCTTTCTTTCTTTCTTTCTTTC		GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1						chr6	TogoVar
GFOD1_chr6_13352830_13492600	13409136	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01257.hp1 HG00323.hp2 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0099 a0001c0001t0007g0107 a0001c0001t0001g0099 a0001c0001t0007g0107	2	230	0.0087	21	c.254 others(40): Show c.254-43475_254-43474insCTTTCTTTCTTTCTTTCTTTC		GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1						chr6	TogoVar
GFPT1_chr2_69314780_69392227	69366142	A A	AATTAAAG others(14): Show AATTAAAGCAGTATCTCCTTGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02572.hp2 others(4): Show HG01884.hp2 HG02258.hp2 HG02572.hp2 HG02818.hp1 HG02970.hp2 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0024 a0001c0001t0007g0025 a0001c0001t0007g0026 others(4): Show a0001c0001t0007g0024 a0001c0001t0007g0025 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0039	7	366	0.0191	21	c.224 others(38): Show c.224-2493_224-2473dupGCAAGGAGATACTGCTTTAAT		GFPT1	ENSG00000198380.13	transcript	ENST00000357308.9	protein_coding	3/19						chr2	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02723.hp1 HG02970.hp2 HG02622.hp1 HG02723.hp1 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0284 a0001c0003t0002g0322 a0001c0003t0002g0323 a0001c0003t0002g0284 a0001c0003t0002g0322 a0001c0003t0002g0323	3	412	0.0073	21	c.41 others(32): Show c.4105_*4106insATATATATATTTTTTTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar
GFRA1_chr10_116051925_116278206	116064037	A A	AATCATCA others(14): Show AATCATCATCATGATCATGATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG00621.hp1 HG01261.hp1 others(5): Show HG00423.hp2 HG00621.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG02027.hp2 NA18952.hp1 NA18957.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0028 a0001c0001t0114 a0001c0002t0055 others(5): Show a0001c0001t0028 a0001c0001t0114 a0001c0002t0055 a0001c0002t0081 a0001c0002t0082 a0001c0002t0112 a0001c0002t0113 a0002c0004t0028	a0001c0001t0028g0065 a0001c0001t0114g0095 a0001c0002t0055g0198 others(5): Show a0001c0001t0028g0065 a0001c0001t0114g0095 a0001c0002t0055g0198 a0001c0002t0081g0012 a0001c0002t0082g0009 a0001c0002t0112g0111 a0001c0002t0113g0060 a0002c0004t0028g0099	8	214	0.0374	21	c.34 others(30): Show c.340_*360dupCATCATGATCATGATGATGAT		GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	11/11				360		chr10	TogoVar
GFRA2_chr8_21685398_21793875	21712999	A A	AAGAGGGA others(14): Show AAGAGGGAGAGGGAGACGAGGG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19010.hp2 NA19068.hp1 others(1): Show NA18980.hp2 NA19010.hp2 NA19068.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0017 a0002c0002t0046 a0002c0005t0017 a0002c0002t0017 a0002c0002t0046 a0002c0005t0017	a0002c0002t0017g0107 a0002c0002t0046g0312 a0002c0005t0017g0009 others(1): Show a0002c0002t0017g0107 a0002c0002t0046g0312 a0002c0005t0017g0009 a0002c0005t0017g0167	4	322	0.0124	21	c.795 others(38): Show c.795-6979_795-6959dupCCCTCGTCTCCCTCTCCCTCT		GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	4/8						chr8	TogoVar
GFUS_chr8_143607618_143622549	143619147	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02300.hp1 others(5): Show HG01109.hp1 HG01884.hp2 HG02300.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0015 a0001c0003t0001g0016 a0001c0004t0001g0021 a0001c0001t0001g0015 a0001c0003t0001g0016 a0001c0004t0001g0021	8	415	0.0193	21	c.-16 others(32): Show c.-1686_-1685insTTTTTTTTTTTTTTTTTTTTT		GFUS	ENSG00000104522.16	transcript	ENST00000425753.7	protein_coding					1599		chr8	TogoVar
GGA3_chr17_75231599_75266606	75248468	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03139.hp1 HG02129.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0269 a0001c0001t0002g0060 a0001c0001t0001g0269 a0001c0001t0002g0060	2	364	0.0055	21	c.41- others(36): Show c.41-1693_41-1673dupTTTTTTTTTTTTTTTTTTTTT		GGA3	ENSG00000125447.18	transcript	ENST00000537686.6	protein_coding	1/16						chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36548615	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01257.hp1 HG01255.hp2 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0002t0003g0033 a0001c0002t0003g0034	2	357	0.0056	21	c.93+ others(36): Show c.93+2815_93+2835dupAAAAAAAAAAAAAAAAAAAAA		GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
GGT1_chr22_24598193_24633996	24605051	T T	TATATATA others(14): Show TATATATATATATAAAATGTAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA19081.hp1 NA18994.hp2 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0337 a0002c0002t0002g0360 a0001c0001t0002g0337 a0002c0002t0002g0360	2	426	0.0047	21	c.-42 others(40): Show c.-429+1524_-429+1525insATATATATATATAAAATGTAA		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15						chr22	TogoVar
GGT1_chr22_24598193_24633996	24605234	A A	ATATTATA others(14): Show ATATTATATATTATATAATATG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG04184.hp2 HG02129.hp1 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0187 a0002c0002t0001g0189 a0001c0001t0001g0187 a0002c0002t0001g0189	2	426	0.0047	21	c.-42 others(40): Show c.-429+1833_-429+1853dupGTATTATATATTATATAATAT		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT5_chr22_24214660_24250082	24228048	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0307 a0002c0002t0002g0307	1	420	0.0024	21	c.902 others(38): Show c.902-1282_902-1281insTTTTTTTTTTTTTTTTTTTTT		GGT5	ENSG00000099998.19	transcript	ENST00000327365.10	protein_coding	6/11						chr22	TogoVar
GGT7_chr20_34839720_34877856	34845112	T T	TCACCACC others(14): Show TCACCACCACCACCACCACCAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp2 HG01175.hp1 HG01515.hp2 others(7): Show HG01074.hp2 HG01175.hp1 HG01515.hp2 HG01517.hp1 HG01993.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp2 NA19055.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0042 a0001c0001t0007g0045 a0001c0001t0007g0093 others(5): Show a0001c0001t0007g0042 a0001c0001t0007g0045 a0001c0001t0007g0093 a0001c0001t0007g0103 a0001c0001t0007g0192 a0001c0001t0007g0235 a0001c0001t0007g0240 a0001c0001t0007g0252	10	354	0.0283	21	c.19 others(30): Show c.195_*215dupGTGGTGGTGGTGGTGGTGGTG		GGT7	ENSG00000131067.17	transcript	ENST00000336431.10	protein_coding	15/15				215		chr20	TogoVar
GGTA1_chr9_121450040_121504844	121496757	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp2 HG01071.hp1 others(2): Show HG00323.hp1 HG01069.hp2 HG01071.hp1 HG01496.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0268 a0001c0001t0002g0267 a0001c0001t0002g0269 others(2): Show a0001c0001t0001g0268 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0306 a0001c0001t0002g0307	5	338	0.0148	21	c.-10 others(38): Show c.-10+2892_-10+2893insCTCTTTTTTTTTTTTTTTTTT		GGTA1	ENSG00000204136.12	transcript	ENST00000481799.6	protein_coding	1/5						chr9	TogoVar
GHRHR_chr7_30958953_30984528	30968596	T T	TCCTCCTC others(14): Show TCCTCCTCTCTCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	422	0.0024	21	c.58- others(34): Show c.58-233_58-232insTCTCTCTCCCTCCCTCCCTCC		GHRHR	ENSG00000106128.19	transcript	ENST00000326139.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
GHR_chr5_42418439_42726878	42474333	G G	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAAGAAAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	210	0.0048	21	c.-12 others(40): Show c.-12+50385_-12+50386insGAAAGAAAAGAAATAAAGAAA		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
GIGYF1_chr7_100674507_100699250	100694312	A A	ACCGCCGC others(14): Show ACCGCCGCCGCCGCCGCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG03209.hp1 HG02717.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0024t0001 a0001c0001t0001 a0001c0024t0001	a0001c0001t0001g0108 a0001c0024t0001g0130 a0001c0001t0001g0108 a0001c0024t0001g0130	2	398	0.0050	21	c.-13 others(32): Show c.-1302_-1301insCGGCGGCGGCGGCGGCGGCGG		GIGYF1	ENSG00000146830.11	transcript	ENST00000678049.1	protein_coding					63		chr7	TogoVar
GINS2_chr16_85671198_85693954	85685670	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0104 a0001c0003t0007g0104	1	470	0.0021	21	c.205 others(38): Show c.205+1769_205+1789dupTTTTTTTTTTTTTTTTTTTTT		GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4						chr16	TogoVar
GINS3_chr16_58387471_58411147	58406833	G G	GGTGGCTC others(14): Show GGTGGCTCTGGGCTGTCCATGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	21	c.21 others(32): Show c.2104_*2105insGTGGCTCTGGGCTGTCCATGC		GINS3	ENSG00000181938.14	transcript	ENST00000318129.6	protein_coding					687		chr16	TogoVar
GINS4_chr8_41524261_41550030	41546849	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG01074.hp2 others(16): Show HG00423.hp1 HG00621.hp1 HG01074.hp2 HG01258.hp2 HG01934.hp2 HG01978.hp1 HG02027.hp2 HG02300.hp1 HG02300.hp2 HG02683.hp1 HG03942.hp2 NA18969.hp2 NA18978.hp2 NA18983.hp2 NA18998.hp2 NA19004.hp1 NA19079.hp2 NA19086.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0019	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0016 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0069 a0001c0001t0002g0004 a0001c0001t0012g0022 a0001c0001t0019g0001	19	426	0.0446	21	c.47 others(32): Show c.4762_*4763insTTTTTTTTTTTTTTTTTTTTT		GINS4	ENSG00000147536.12	transcript	ENST00000276533.4	protein_coding					1820		chr8	TogoVar
GIPC1_chr19_14472762_14501127	14496041	T T	TCCGCCGC others(14): Show TCCGCCGCCGCCGCCGCCGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03516.hp1 NA18969.hp1 NA19011.hp2 others(2): Show HG03516.hp1 NA18969.hp1 NA19011.hp2 NA19088.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0013 a0001c0002t0055 a0001c0001t0013 a0001c0002t0013 a0001c0002t0055	a0001c0001t0013g0366 a0001c0001t0013g0367 a0001c0001t0013g0369 others(2): Show a0001c0001t0013g0366 a0001c0001t0013g0367 a0001c0001t0013g0369 a0001c0002t0013g0365 a0001c0002t0055g0368	5	444	0.0113	21	c.-20 others(30): Show c.-200_-180dupCGGCGGCGGCGGCGGCGGCGG		GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	1/9				13066		chr19	TogoVar
GIP_chr17_48953554_48973596	48965138	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	406	0.0025	21	c.87- others(34): Show c.87-659_87-658insTTTTTTTTTTTTTTTTTTTTT		GIP	ENSG00000159224.4	transcript	ENST00000357424.2	protein_coding	2/5						chr17	TogoVar
GJA10_chr6_89889469_89901120	89900742	A A	AATATATA others(14): Show AATATATATATAAATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01099.hp1 HG02040.hp2 others(10): Show HG00741.hp2 HG01099.hp1 HG02040.hp2 HG02145.hp1 HG02602.hp1 HG02717.hp1 HG03239.hp2 HG04184.hp1 NA18955.hp1 NA18982.hp1 NA18984.hp1 NA18995.hp1 NA19030.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0004 a0001c0001 a0008c0004	a0001c0001t0001 a0008c0004t0001 a0001c0001t0001 a0008c0004t0001	a0001c0001t0001g0000 a0008c0004t0001g0000 a0001c0001t0001g0000 a0008c0004t0001g0000	13	386	0.0337	21	c.46 others(32): Show c.4642_*4643insATATATATATAAATATTATAT		GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding					4623		chr6	TogoVar
GJA10_chr6_89889469_89901120	89900760	A A	ATATATAT others(14): Show ATATATATATATATATAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	386	0.0026	21	c.46 others(32): Show c.4660_*4661insTATATATATATATATAAATAT		GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding					4641		chr6	TogoVar
GJB1_chrX_71218224_71230516	71220142	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	328	0.0031	21	c.-32 others(32): Show c.-3210_-3209insTTTTTTTTTTTTTTTTTTTTT		GJB1	ENSG00000169562.13	transcript	ENST00000361726.7	protein_coding					3081		chrX	TogoVar
GJB2_chr13_20182470_20197938	20197464	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01071.hp1 HG01175.hp1 others(4): Show HG00609.hp1 HG01071.hp1 HG01175.hp1 HG01361.hp2 HG03710.hp2 NA18946.hp1 NA18953.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0003c0003t0002g0006 a0001c0001t0001g0001 a0001c0001t0001g0002 a0003c0003t0002g0006	7	420	0.0167	21	c.-47 others(32): Show c.-4705_-4704insTTTTTTTTTTTTTTTTTTTTT		GJB2	ENSG00000165474.8	transcript	ENST00000382848.5	protein_coding					4527		chr13	TogoVar
GJB6_chr13_20216962_20237319	20218572	C C	CTTCTTTC others(14): Show CTTCTTTCTTTCCTTCTTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02683.hp1 HG03834.hp2 others(9): Show HG00423.hp1 HG02683.hp1 HG03834.hp2 HG04204.hp1 HG04204.hp2 NA18945.hp2 NA18956.hp2 NA18969.hp1 NA18974.hp2 NA18981.hp1 NA19085.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0099 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0220 a0001c0001t0004g0325	12	460	0.0261	21	c.41 others(32): Show c.4122_*4123insAGGAAAGAAGGAAAGAAAGAA		GJB6	ENSG00000121742.19	transcript	ENST00000647029.1	protein_coding					3389		chr13	TogoVar
GJC1_chr17_44793448_44835287	44821697	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0219 a0001c0001t0016g0219	1	380	0.0026	21	c.-97 others(38): Show c.-97+8344_-97+8364dupTTTTTTTTTTTTTTTTTTTTT		GJC1	ENSG00000182963.11	transcript	ENST00000592524.6	protein_coding	1/2						chr17	TogoVar
GJC2_chr1_228144930_228164826	228155657	T T	TCTTCCAG others(14): Show TCTTCCAGACCATTCCCAGGAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG01106.hp1 others(2): Show HG00280.hp2 HG00323.hp2 HG01106.hp1 HG01175.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	5	414	0.0121	21	c.-19 others(38): Show c.-19-2081_-19-2061dupTTCCAGACCATTCCCAGGACC		GJC2	ENSG00000198835.4	transcript	ENST00000366714.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr1	TogoVar
GK5_chr3_142152527_142230585	142159847	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG02280.hp1 others(1): Show HG01243.hp2 HG02055.hp2 HG02280.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0040 a0001c0001t0078 a0001c0001t0021 a0001c0001t0040 a0001c0001t0078	a0001c0001t0021g0034 a0001c0001t0021g0163 a0001c0001t0040g0037 others(1): Show a0001c0001t0021g0034 a0001c0001t0021g0163 a0001c0001t0040g0037 a0001c0001t0078g0141	4	272	0.0147	21	c.57 others(32): Show c.5774_*5775insAAAAAAAAAAAAAAAAAAAAA		GK5	ENSG00000175066.16	transcript	ENST00000392993.7	protein_coding	16/16				5774		chr3	TogoVar
GK5_chr3_142152527_142230585	142159849	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0038 a0001c0001t0041g0038	1	272	0.0037	21	c.57 others(32): Show c.5772_*5773insAAAAAAAAAAAAAAAAAAAAA		GK5	ENSG00000175066.16	transcript	ENST00000392993.7	protein_coding	16/16				5772		chr3	TogoVar
GK5_chr3_142152527_142230585	142159853	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp2 HG02071.hp2 HG02683.hp1 HG01069.hp2 HG02071.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0022 a0001c0001t0018g0069 a0001c0001t0018g0086 a0001c0001t0018g0022 a0001c0001t0018g0069 a0001c0001t0018g0086	3	272	0.0110	21	c.57 others(32): Show c.5768_*5769insAAAAAAAAAAAAAAAAAAAAA		GK5	ENSG00000175066.16	transcript	ENST00000392993.7	protein_coding	16/16				5768		chr3	TogoVar
GLB1L3_chr11_134271379_134324564	134308208	C C	CCACCACC others(14): Show CCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(34): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01255.hp2 HG01258.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01943.hp1 HG02109.hp2 HG02300.hp2 HG02559.hp2 HG02615.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03195.hp2 HG03516.hp2 NA18522.hp1 NA18906.hp2 NA18943.hp2 NA18975.hp2 NA18984.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0017 a0002c0004 a0003c0007 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0005t0002 a0001c0017t0001 a0002c0004t0001 a0003c0007t0001 a0005c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0139 others(27): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0158 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0002g0277 a0001c0001t0002g0343 a0001c0001t0003g0141 a0001c0001t0003g0177 a0001c0002t0002g0027 a0001c0002t0002g0270 a0001c0002t0002g0281 a0001c0005t0002g0103 a0001c0017t0001g0034 a0002c0004t0001g0016 a0002c0004t0001g0038 a0002c0004t0001g0087 a0002c0004t0001g0090 a0002c0004t0001g0091 a0002c0004t0001g0092 a0002c0004t0001g0256 a0003c0007t0001g0126 a0005c0010t0001g0123 a0005c0010t0001g0124	37	422	0.0877	21	c.961 others(38): Show c.961+1008_961+1009insCCACCACCACCATCACCACCA		GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1L3_chr11_134271379_134324564	134308655	T T	TCACCACC others(14): Show TCACCACCACCACCACCACCAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG01069.hp2 others(20): Show HG00099.hp2 HG00733.hp2 HG01069.hp2 HG01071.hp1 HG01516.hp2 HG01517.hp2 HG01978.hp1 HG01981.hp2 HG02071.hp2 HG02132.hp1 HG02698.hp1 HG02735.hp2 HG03239.hp1 HG03239.hp2 HG03688.hp2 HG03927.hp2 HG04204.hp1 NA18950.hp2 NA18978.hp2 NA19075.hp2 NA19088.hp2 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004	a0001c0002t0001g0127 a0001c0002t0001g0271 a0001c0002t0001g0283 others(18): Show a0001c0002t0001g0127 a0001c0002t0001g0271 a0001c0002t0001g0283 a0001c0002t0002g0027 a0001c0002t0002g0033 a0001c0002t0002g0260 a0001c0002t0002g0270 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0357 a0001c0002t0004g0282	23	422	0.0545	21	c.962 others(36): Show c.962-955_962-935dupCACCAACACCACCACCACCAC		GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr11	TogoVar

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