Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
GAREM1_chr18_32258522_32475882	32364026	A A	ATATATAT others(19): Show ATATATATATGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0127 a0001c0001t0030g0127	1	130	0.0077	26	c.262 others(45): Show c.262+28868_262+28869insAAAAAAAAAAAAAAAACATATATATA	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	2/5			chr18	TogoVar
GAREM1_chr18_32258522_32475882	32364026	A A	ATATATAT others(19): Show ATATATATGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0008 a0001c0025t0008	a0001c0025t0008g0029 a0001c0025t0008g0029	1	130	0.0077	26	c.262 others(45): Show c.262+28868_262+28869insAAAAAAAAAAAAAAAAAACATATATA	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	2/5			chr18	TogoVar
GARIN1A_chr7_128667292_128692877	128679006	T T	TTATGTAA others(19): Show TTATGTAACGATTGTTACATATATACG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00597.hp1 others(34): Show HG00140.hp1 HG00323.hp2 HG00597.hp1 HG00639.hp1 HG01074.hp2 HG01167.hp1 HG01169.hp2 HG01257.hp2 HG01258.hp1 HG01884.hp2 HG01943.hp1 HG02055.hp1 HG02145.hp1 HG02258.hp1 HG02572.hp1 HG02630.hp1 HG02723.hp2 HG02895.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03239.hp1 HG03654.hp1 HG03942.hp1 NA18947.hp1 NA18966.hp2 NA18979.hp1 NA18983.hp1 NA18986.hp1 NA19001.hp2 NA19002.hp2 NA19009.hp2 NA19010.hp1 NA19062.hp1 NA19081.hp1 NA20129.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0007 a0004c0004t0010 a0004c0004t0018 others(6): Show a0004c0004t0007 a0004c0004t0010 a0004c0004t0018 a0004c0004t0023 a0004c0004t0044 a0004c0004t0046 a0004c0004t0047 a0004c0004t0048 a0004c0004t0049	a0004c0004t0007g0006 a0004c0004t0007g0013 a0004c0004t0007g0039 others(15): Show a0004c0004t0007g0006 a0004c0004t0007g0013 a0004c0004t0007g0039 a0004c0004t0007g0110 a0004c0004t0007g0111 a0004c0004t0007g0113 a0004c0004t0010g0006 a0004c0004t0010g0013 a0004c0004t0010g0108 a0004c0004t0010g0109 a0004c0004t0018g0006 a0004c0004t0018g0040 a0004c0004t0023g0006 a0004c0004t0044g0006 a0004c0004t0046g0006 a0004c0004t0047g0112 a0004c0004t0048g0040 a0004c0004t0049g0107	37	425	0.0871	26	c.589 others(42): Show c.589-1016_589-991dupGATTGTTACATATATACGTATGTAAC	GARIN1A	ENSG00000205085.13	transcript	ENST00000682356.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
GARIN2_chr14_67184440_67228940	67193090	A A	ATCTCTAT others(19): Show ATCTCTATATATCTCTATATAGATATC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0234 a0003c0006t0001g0234	1	330	0.0030	26	c.-11 others(45): Show c.-114+3544_-114+3569dupTATCTCTCTATATATCTCTATATAGA	GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
GARIN2_chr14_67184440_67228940	67193165	C C	CATCTATA others(19): Show CATCTATATATCTCTATATAGACATCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00741.hp1 HG02145.hp1 others(2): Show HG00408.hp2 HG00741.hp1 HG02145.hp1 HG03710.hp2 NA18612.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0003 a0006c0013 a0001c0001 a0002c0003 a0006c0013	a0001c0001t0001 a0002c0003t0001 a0006c0013t0001 a0001c0001t0001 a0002c0003t0001 a0006c0013t0001	a0001c0001t0001g0053 a0001c0001t0001g0089 a0001c0001t0001g0090 others(2): Show a0001c0001t0001g0053 a0001c0001t0001g0089 a0001c0001t0001g0090 a0002c0003t0001g0212 a0006c0013t0001g0054	5	319	0.0157	26	c.-11 others(45): Show c.-114+3722_-114+3747dupCATCTATCTATATATCTCTATATAGA	GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
GARIN5A_chr19_50461788_50481848	50472090	A A	ATGTATAT others(19): Show ATGTATATGTATATGTATATATACGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	283	0.0035	26	c.539 others(43): Show c.539+3234_539+3235insCACGTATATATACATATACATATACA	GARIN5A	ENSG00000142530.11	transcript	ENST00000600100.6	protein_coding	3/4			chr19	TogoVar
GARNL3_chr9_127259774_127398660	127331720	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG03239.hp1 others(6): Show HG00741.hp2 HG01070.hp1 HG03239.hp1 HG03492.hp1 HG03516.hp1 HG03710.hp1 HG04228.hp2 NA18747.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0249 a0001c0001t0001g0251 others(6): Show a0001c0001t0001g0118 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0276	9	35	0.2571	26	c.595 others(41): Show c.595-539_595-538insTTTTTTTTTTTTTTTTTTTTTTTTTT	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 NA19055.hp1 HG00280.hp1 HG00323.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0181 a0001c0001t0001g0004 a0001c0001t0001g0181	3	159	0.0189	26	c.287 others(43): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAAAAAATATATA	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 NA18970.hp1 HG01070.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0267 a0001c0001t0001g0251 a0001c0001t0001g0267	2	158	0.0127	26	c.287 others(43): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAAAATATATATA	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	157	0.0064	26	c.287 others(43): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAATATATATATA	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARRE1_chr19_34249554_34360566	34293715	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	39	0.0256	26	c.-79 others(45): Show c.-795-5960_-795-5935dupCACACACACACACACACACACACACA	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GAS2_chr11_22661611_22818001	22789423	G G	GATATATA others(19): Show GATATATATAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	99	0.0101	26	c.724 others(45): Show c.724-22374_724-22373insTATATATAAATATATATATATATATA	GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
GAS7_chr17_9905606_10203606	9998699	A A	AAAGGGAA others(19): Show AAAGGGAAGGGAAGGGAAGGAAAAGGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG03834.hp2 HG03942.hp2 HG02027.hp1 HG03834.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0130 a0001c0001t0001g0192 a0001c0001t0001g0104 a0001c0001t0001g0130 a0001c0001t0001g0192	3	216	0.0139	26	c.305 others(45): Show c.305-16816_305-16815insCCCTTTTCCTTCCCTTCCCTTCCCTT	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	2/13			chr17	TogoVar
GATAD2B_chr1_153799725_153927972	153876227	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0059	1	78	0.0128	26	c.-2+ others(43): Show c.-2+46480_-2+46505dupTTTTTTTTTTTTTTTTTTTTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATB_chr4_151665504_151766007	151735734	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG01361.hp2 others(17): Show HG00140.hp1 HG00558.hp2 HG01361.hp2 HG01978.hp2 HG02083.hp1 HG02280.hp2 HG02523.hp2 HG02602.hp1 HG02896.hp1 HG02897.hp2 HG03490.hp2 HG03492.hp1 NA18941.hp2 NA18957.hp1 NA18960.hp2 NA18963.hp2 NA18978.hp1 NA19010.hp1 NA19079.hp1 NA21309.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0001 a0008c0010t0001 a0001c0001t0001 a0008c0010t0001	a0001c0001t0001g0011 a0001c0001t0001g0059 a0001c0001t0001g0061 others(16): Show a0001c0001t0001g0011 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0142 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0288 a0001c0001t0001g0291 a0008c0010t0001g0058	20	197	0.1015	26	c.328 others(45): Show c.328-16197_328-16196insTATATATATATATATATATATATATA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	2/12			chr4	TogoVar
GATD1_chr11_762222_782487	772804	G G	GAGGTTCC others(19): Show GAGGTTCCAGGTCTGTTTACCAAACCC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0044 a0001c0004t0044	a0001c0004t0044g0053 a0001c0004t0044g0053	1	428	0.0023	26	c.356 others(41): Show c.356-309_356-284dupGGGTTTGGTAAACAGACCTGGAACCT	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding	4/7			chr11	TogoVar
GBF1_chr10_102240532_102387896	102242928	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0005 a0001c0004t0004g0005	1	32	0.0313	26	c.-28 others(37): Show c.-2864_-2863insAAAAAAAAAAAAAAAAAAAAAAAAAA	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding		2603		chr10	TogoVar
GCHFR_chr15_40759068_40772708	40770943	A A	ACAGTGGA others(19): Show ACAGTGGACCTCAGGTGGATCTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	26	c.35 others(37): Show c.3594_*3595insCAGTGGACCTCAGGTGGATCTCCTTC	GCHFR	ENSG00000137880.6	transcript	ENST00000260447.6	protein_coding		3236		chr15	TogoVar
GCNT2_chr6_10516351_10634368	10534139	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp2 HG02738.hp2 others(2): Show HG02293.hp1 HG02293.hp2 HG02738.hp2 HG03710.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0002c0002t0018	a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0002g0136 others(2): Show a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0002g0136 a0001c0001t0017g0023 a0002c0002t0018g0322	5	162	0.0309	26	c.925 others(43): Show c.925+4304_925+4305insTTTTTTTTTTTTTTTTTTTTTTTTTT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10569235	C C	CCACACAC others(19): Show CCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG02071.hp2 others(11): Show HG00438.hp2 HG00621.hp1 HG02071.hp2 HG02083.hp2 HG02647.hp2 HG03195.hp2 HG03831.hp2 NA18939.hp2 NA18951.hp2 NA18955.hp2 NA18971.hp2 NA18991.hp1 NA19005.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0001 a0001c0001t0003 a0001c0001t0015	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0020 others(11): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0217 a0001c0001t0001g0227 a0001c0001t0001g0279 a0001c0001t0001g0321 a0001c0001t0003g0303 a0001c0001t0015g0276	14	108	0.1296	26	c.925 others(45): Show c.925+39413_925+39438dupACACACACACACACACACACACACAC	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10606603	C C	CTTCCATT others(19): Show CTTCCATTAAAGAAATTTAATGGAAAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01081.hp2 HG01243.hp1 others(11): Show HG00621.hp2 HG01081.hp2 HG01243.hp1 HG01891.hp1 HG01978.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02896.hp1 HG02965.hp2 HG03139.hp1 HG03486.hp2 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013	a0001c0001t0001g0006 a0001c0001t0001g0148 a0001c0001t0001g0180 others(11): Show a0001c0001t0001g0006 a0001c0001t0001g0148 a0001c0001t0001g0180 a0001c0001t0001g0282 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0001t0003g0080 a0001c0001t0003g0167 a0001c0001t0004g0280 a0001c0001t0007g0011 a0001c0001t0007g0260 a0001c0001t0012g0277 a0001c0001t0013g0155	14	138	0.1014	26	c.926 others(45): Show c.926-14701_926-14676dupGGAAATTTCCATTAAAGAAATTTAAT	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(19): Show CCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00621.hp2 others(11): Show HG00438.hp1 HG00544.hp1 HG00621.hp2 HG02071.hp1 HG02083.hp1 HG03195.hp2 HG03831.hp2 NA18939.hp2 NA18951.hp2 NA18955.hp1 NA18971.hp2 NA18991.hp1 NA19005.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0017 a0001c0004t0003 a0001c0001t0001 a0001c0001t0017 a0001c0004t0003	a0001c0001t0001g0016 a0001c0001t0001g0095 a0001c0001t0001g0152 others(11): Show a0001c0001t0001g0016 a0001c0001t0001g0095 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0197 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0256 a0001c0001t0001g0264 a0001c0001t0017g0192 a0001c0004t0003g0328	14	116	0.1207	26	c.919 others(45): Show c.919+11907_919+11932dupACACACACACACACACACACACACAC	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10606603	C C	CTTCCATT others(19): Show CTTCCATTAAAGAAATTTAATGGAAAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01081.hp1 HG01243.hp1 others(11): Show HG00621.hp1 HG01081.hp1 HG01243.hp1 HG01891.hp2 HG01978.hp2 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02896.hp2 HG02965.hp1 HG03139.hp1 HG03486.hp2 HG03540.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0002t0003	a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0135 others(11): Show a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0135 a0001c0001t0001g0184 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0309 a0001c0001t0003g0300 a0001c0001t0005g0046 a0001c0001t0009g0047 a0001c0001t0009g0247 a0001c0001t0014g0330 a0001c0001t0015g0301 a0001c0002t0003g0286	14	149	0.0940	26	c.920 others(45): Show c.920-14701_920-14676dupGGAAATTTCCATTAAAGAAATTTAAT	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(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA19057.hp2 NA18967.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0002 a0002c0002t0002g0013	2	273	0.0073	26	c.21 others(37): Show c.2198_*2199insAAAAAAAAAAAAAAAAAAAAAAAAAA	GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding		1277		chr16	TogoVar
GCSH_chr16_81076945_81101395	81100754	T T	TCTCTCAA others(19): Show TCTCTCAACAACAACAACGGAGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	352	0.0028	26	c.-44 others(37): Show c.-4477_-4476insTCCTCCTCCGTTGTTGTTGTTGAGAG	GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding		4360		chr16	TogoVar
GC_chr4_71736697_71789079	71747526	G G	GGTATCAA others(19): Show GGTATCAACTGTTTTGTGGAGAAATCT	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0218 a0001c0004t0001g0218	1	386	0.0026	26	c.139 others(45): Show c.1396-1347_1396-1322dupAGATTTCTCCACAAAACAGTTGATAC	GC	ENSG00000145321.13	transcript	ENST00000273951.13	protein_coding	11/12			chr4	TogoVar
GDAP1L1_chr20_44242308_44285947	44281669	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	189	0.0053	26	c.23 others(37): Show c.2369_*2370insACACACACACACACACACACACACAC	GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding		723		chr20	TogoVar
GDA_chr9_72144440_72257224	72198846	G G	GATAGATA others(19): Show GATAGATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	182	0.0055	26	c.212 others(43): Show c.212+3261_212+3262insGATATATATATATATATATATATATA	GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
GDA_chr9_72144440_72257224	72198846	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA20805.hp2 NA19006.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0001 a0001c0001t0032	a0001c0001t0001g0013 a0001c0001t0032g0223 a0001c0001t0001g0013 a0001c0001t0032g0223	2	183	0.0109	26	c.212 others(43): Show c.212+3273_212+3274insTATATATATATATATATATATATATA	GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
GDF6_chr8_96137333_96165806	96144244	T T	TAGAGAGA others(19): Show TAGAGAGAGAGAGAGAGAGAGAGACAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0247 a0001c0002t0047g0247	1	108	0.0093	26	c.31 others(35): Show c.318_*319insCTGTCTCTCTCTCTCTCTCTCTCTCT	GDF6	ENSG00000156466.11	transcript	ENST00000287020.7	protein_coding	2/2	318		chr8	TogoVar
GDF7_chr2_20662144_20684243	20663249	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01261.hp2 HG00099.hp2 HG01081.hp2 HG01261.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0235 a0001c0001t0237 a0006c0007t0155 a0001c0001t0235 a0001c0001t0237 a0006c0007t0155	a0001c0001t0235g0001 a0001c0001t0237g0001 a0006c0007t0155g0009 a0001c0001t0235g0001 a0001c0001t0237g0001 a0006c0007t0155g0009	3	168	0.0179	26	c.-39 others(37): Show c.-3991_-3990insAAAAAAAAAAAAAAAAAAAAAAAAAA	GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding		3894		chr2	TogoVar
GDPD1_chr17_59215511_59280970	59255774	T T	TACGCGTA others(19): Show TACGCGTATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02145.hp1 others(6): Show HG01884.hp1 HG02109.hp2 HG02145.hp1 HG02559.hp2 HG02896.hp1 HG03130.hp2 HG03225.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0019 a0001c0001t0023 a0001c0001t0008 a0001c0001t0019 a0001c0001t0023	a0001c0001t0008g0066 a0001c0001t0008g0069 a0001c0001t0008g0070 others(6): Show a0001c0001t0008g0066 a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0008g0071 a0001c0001t0008g0072 a0001c0001t0008g0074 a0001c0001t0019g0068 a0001c0001t0019g0073 a0001c0001t0023g0067	9	310	0.0290	26	c.368 others(43): Show c.368-1347_368-1346insCGCGTATATATATATATATACACACA	GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
GDPD5_chr11_75429640_75530941	75512281	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02258.hp2 HG03704.hp2 others(1): Show HG00099.hp2 HG02258.hp2 HG03704.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0001 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0017 a0001c0001t0001g0102 a0001c0001t0003g0269 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0102 a0001c0001t0003g0269 a0001c0001t0011g0205	4	17	0.2353	26	c.-14 others(47): Show c.-145+12903_-145+12928dupGTGTGTGTGTGTGTGTGTGTGTGT GT	GDPD5	ENSG00000158555.15	transcript	ENST00000336898.8	protein_coding	1/16			chr11	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19003.hp2 NA19002.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0269 a0001c0001t0001g0274	2	274	0.0073	26	c.486 others(43): Show c.486+1166_486+1167insATATATATATATATATATATATATTT	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(19): Show ATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG03927.hp2 HG02630.hp1 HG02886.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0297 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0297	3	275	0.0109	26	c.486 others(43): Show c.486+1166_486+1167insATATATATATATATATATATTTTTTT	GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
GEN1_chr2_17749138_17793946	17778373	C C	CACATATG others(19): Show CACATATGTGTGTACATATATGTATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0030 a0007c0007t0030	a0007c0007t0030g0010 a0007c0007t0030g0010	1	318	0.0031	26	c.126 others(43): Show c.1264+313_1264+314insTATGTGTGTACATATATGTATATACA	GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GET4_chr7_871554_901436	897667	A A	AGGGGGGG others(19): Show AGGGGGGGCACCTGGGGAAGGGGTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	337	0.0030	26	c.22 others(37): Show c.2245_*2246insGGGGGGGCACCTGGGGAAGGGGTGCT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding		1232		chr7	TogoVar
GFI1_chr1_92468043_92491925	92481953	G G	GTGTGCGC others(19): Show GTGTGCGCGCGCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0044 a0001c0009t0044	a0001c0009t0044g0173 a0001c0009t0044g0173	1	340	0.0029	26	c.299 others(41): Show c.299-866_299-865insTGTGTGTGTGCGCGCGCGCGCGCACA	GFI1	ENSG00000162676.13	transcript	ENST00000294702.6	protein_coding	3/6			chr1	TogoVar
GFOD1_chr6_13352830_13492600	13390780	A A	AGAAAGGA others(19): Show AGAAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18948.hp1 NA20752.hp2 HG02300.hp1 NA18948.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0093 a0001c0001t0007 a0001c0001t0093	a0001c0001t0007g0094 a0001c0001t0007g0146 a0001c0001t0093g0088 a0001c0001t0007g0094 a0001c0001t0007g0146 a0001c0001t0093g0088	3	102	0.0294	26	c.254 others(45): Show c.254-25119_254-25118insCCTTCCTTCCTTCCTTCCTTCCTTTC	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFOD2_chr16_67669536_67724316	67712280	C C	CCTCCCCC others(19): Show CCTCCCCCTCCCCCCCTCCCTCTCCCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0099 a0001c0001t0004g0099	1	183	0.0055	26	c.-88 others(43): Show c.-88+6882_-88+6883insAGGGAGAGGGAGGGGGGGAGGGGGAG	GFOD2	ENSG00000141098.13	transcript	ENST00000268797.12	protein_coding	1/2			chr16	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0180 a0001c0009t0001g0180	1	199	0.0050	26	c.41 others(37): Show c.4105_*4106insATATATATATTTTTTTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 NA18960.hp2 HG02615.hp2 NA18960.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0003 a0001c0005t0003 a0001c0004t0003 a0001c0005t0003	a0001c0004t0003g0183 a0001c0005t0003g0212 a0001c0004t0003g0183 a0001c0005t0003g0212	2	200	0.0100	26	c.41 others(37): Show c.4105_*4106insATATATATATATTTTTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0102 a0001c0005t0003g0102	1	199	0.0050	26	c.41 others(37): Show c.4105_*4106insATATATATATATATTTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0234 a0001c0005t0003g0234	1	199	0.0050	26	c.41 others(37): Show c.4105_*4106insATATATATATATATATTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFRA1_chr10_116051925_116278206	116205596	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp2 HG02717.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0016 a0002c0003t0092 a0001c0001t0016 a0002c0003t0092	a0001c0001t0016g0153 a0002c0003t0092g0166 a0001c0001t0016g0153 a0002c0003t0092g0166	2	86	0.0233	26	c.433 others(43): Show c.433+6009_433+6034dupATATATATATATATATATATATATAT	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10			chr10	TogoVar
GFRA2_chr8_21685398_21793875	21694075	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp2 NA19002.hp2 others(2): Show NA18994.hp1 NA18994.hp2 NA19002.hp2 NA19066.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0002 a0002c0002t0003 a0001c0001t0006 a0002c0002t0002 a0002c0002t0003	a0001c0001t0006g0253 a0002c0002t0002g0098 a0002c0002t0002g0142 others(2): Show a0001c0001t0006g0253 a0002c0002t0002g0098 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0003g0296	5	155	0.0323	26	c.127 others(43): Show c.1272+388_1272+389insTATATATATATATATATATATATATA	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8			chr8	TogoVar
GFRA2_chr8_21685398_21793875	21714246	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0074 a0001c0001t0005g0074	1	74	0.0135	26	c.795 others(43): Show c.795-8206_795-8205insAAAAAAAAAAAAAAAAAAAAAAAAAA	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	4/8			chr8	TogoVar
GFRA2_chr8_21685398_21793875	21744550	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0188 a0001c0001t0006g0188	1	14	0.0714	26	c.794 others(43): Show c.794+6012_794+6037dupGTGTGTGTGTGTGTGTGTGTGTGTGT	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	4/8			chr8	TogoVar
GFRAL_chr6_55322469_55407493	55395173	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0197 a0004c0004t0002g0197	1	286	0.0035	26	c.953 others(43): Show c.953-4006_953-4005insTATATATATATATATATATATATATA	GFRAL	ENSG00000187871.2	transcript	ENST00000340465.2	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
GFUS_chr8_143607618_143622549	143619147	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01346.hp1 HG01975.hp1 others(20): Show HG01074.hp2 HG01346.hp1 HG01975.hp1 HG02055.hp1 HG02055.hp2 HG02280.hp1 HG02559.hp2 HG02615.hp1 HG02717.hp1 HG02922.hp2 HG02965.hp1 HG03453.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG04199.hp1 NA18940.hp2 NA18967.hp1 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA19088.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0003g0005 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0003g0005	23	184	0.1250	26	c.-16 others(37): Show c.-1686_-1685insTTTTTTTTTTTTTTTTTTTTTTTTTT	GFUS	ENSG00000104522.16	transcript	ENST00000425753.7	protein_coding		1599		chr8	TogoVar

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