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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FAIM_chr3_138603771_138638376	138609533	A A	ACTCTCTC others(88): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCCTCTCTCTCTCTCCCTCCCTCTCCTCCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	368	0.0027	95	c.-17 others(110): Show c.-17+639_-17+640insTCTCTCTCTCTCTCCTCTCTCTCTCTCCCT CCCTCTCCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609533	A A	ACTCTCTC others(88): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTCCT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	368	0.0027	95	c.-17 others(110): Show c.-17+639_-17+640insTCTCTCTCTCTCTCTCTCCCTCTCTCTCTC CCTCCCTCTCCCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609535	T T	TCTCTCTC others(88): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCCC TCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02148.hp2 HG03490.hp2 HG00140.hp1 HG02148.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277	3	368	0.0082	95	c.-17 others(110): Show c.-17+637_-17+638insCCTCTCTCCCTCTCTCCCTCTCTCCCTCTC TCTCTCCCTCCCTCTCCCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609535	T T	TCTCTCTC others(88): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CCTCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	368	0.0027	95	c.-17 others(110): Show c.-17+639_-17+640insTCTCTCTCCCTCTCTCCCTCTCTCCCTCTC TCTCTCCCTCCCTCTCCCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609537	T T	TCTCTCTC others(88): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCC TCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	368	0.0027	95	c.-17 others(110): Show c.-17+639_-17+640insTCTCTCTCCCTCTCTCCCTCTCTCCCTCTC TCTCTCCCTCCCTCTCCCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609541	T T	TCTCTCTC others(88): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCC TCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	368	0.0027	95	c.-17 others(110): Show c.-17+639_-17+640insTCTCTCTCTCTCCCTCTCTCCCTCTCTCCC TCTCTCTCTCCCTCCCTCTCCCTCTCTCTCCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609543	T T	TCTCTCTC others(88): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCC TCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02809.hp1 HG01358.hp2 HG02809.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0321 a0003c0003t0001g0322 a0003c0003t0001g0321 a0003c0003t0001g0322	2	368	0.0054	95	c.-17 others(110): Show c.-17+639_-17+640insTCTCTCTCTCTCTCCCTCTCTCCCTCTCTC CCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTCCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609549	T T	TCTCTCTC others(88): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCCCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0126 a0002c0002t0001g0126	1	368	0.0027	95	c.-17 others(110): Show c.-17+639_-17+640insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCCCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCCTCTCTCTCTCT CTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAN1_chr15_30898915_30948108	30929819	T T	TCATATAT others(88): Show TCATATATAATATAATATATAAAATATATAATATATCATATATAATATAA TATATAAAATATATAATATATCATATATAATATATAAAATATATAA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19054.hp2 NA19057.hp2 NA18999.hp2 NA19054.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	3	303	0.0099	95	c.278 others(112): Show c.2787+422_2787+423insCATATATAATATAATATATAAAATATAT AATATATCATATATAATATAATATATAAAATATATAATATATCATATATA ATATATAAAATATATAA	FAN1	ENSG00000198690.10	transcript	ENST00000362065.9	protein_coding	12/14			chr15	TogoVar
FBLN1_chr22_45497883_45606135	45568415	T T	TTTCTGTA others(88): Show TTTCTGTAGGGGAATGCCTCTTCTGTAGGGGAATGCTCCTTCTGTAGGGG AGTGCTCCTTCTGTAGGGGAGTGCTCCTTCTGTAGGGGAATGCCTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0202 a0001c0002t0001g0202	1	346	0.0029	95	c.169 others(114): Show c.1698-6084_1698-6083insATGCCTCTTCTGTAGGGGAATGCTCC TTCTGTAGGGGAGTGCTCCTTCTGTAGGGGAGTGCTCCTTCTGTAGGGGA ATGCCTCTTCTGTAGGGGA	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBN2_chr5_128252909_128543245	128540067	C C	CATATATC others(88): Show CATATATCATATATATCATATATATCATATATCATATATATCATATATAT CATATATCATATATATCAATCATATATATTATATATCATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG02273.hp1 HG03491.hp1 others(1): Show HG01496.hp2 HG02273.hp1 HG03491.hp1 NA18964.hp2	a0002 a0002	a0002c0006 a0002c0016 a0002c0006 a0002c0016	a0002c0006t0004 a0002c0016t0002 a0002c0006t0004 a0002c0016t0002	a0002c0006t0004g0046 a0002c0006t0004g0047 a0002c0006t0004g0050 others(1): Show a0002c0006t0004g0046 a0002c0006t0004g0047 a0002c0006t0004g0050 a0002c0016t0002g0043	4	236	0.0170	95	c.-24 others(106): Show c.-2465_-2464insATGATATATGATATATAATATATATGATTGATAT ATATGATATATGATATATATGATATATATGATATATGATATATATGATAT ATATGATATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1823		chr5	TogoVar
FBXO34_chr14_55266421_55358611	55331766	T T	TACACCAC others(88): Show TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0127 a0004c0004t0003g0127	1	334	0.0030	95	c.-10 others(114): Show c.-10-18614_-10-18613insCACCACCGTGGTGTATATATAAAAAT ATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCAC CGTGGTGTATATATAAAAA	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FKBP2_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(88): Show GAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	332	0.0030	95	c.-40 others(106): Show c.-4014_-4013insAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATATAT ATATATATATA	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		3971		chr11	TogoVar
FKBP2_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(88): Show GAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	332	0.0030	95	c.-40 others(106): Show c.-4014_-4013insAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATAT ATATATATATA	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		3971		chr11	TogoVar
FLT3_chr13_27998274_28105576	27998781	A A	ATATATAT others(88): Show ATATATATAAATATATATATTTATATATAAATATATGTTATATATATAAA TATATGTTATATATATAAATATATATATTTATATATAAATATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0196 a0003c0003t0001g0196	1	292	0.0034	95	c.52 others(106): Show c.5270_*5271insACATATATTTATATATAAATATATATATTTATAT ATATAACATATATTTATATATATAACATATATTTATATATAAATATATAT ATTTATATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4492		chr13	TogoVar
FLT3_chr13_27998274_28105576	27998781	A A	ATATATAT others(88): Show ATATATATAAATATATGTTTATATATATAAATATATGTTATATATATAAA TATATGTTATATATATAAATATATATATTTATATATAAATATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0162 a0002c0002t0002g0162	1	292	0.0034	95	c.52 others(106): Show c.5270_*5271insACATATATTTATATATAAATATATATATTTATAT ATATAACATATATTTATATATATAACATATATTTATATATATAAACATAT ATTTATATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4492		chr13	TogoVar
FLT4_chr5_180596506_180654600	180613470	T T	TCCTGCTG others(88): Show TCCTGCTGCTCCCCCCAACCCCTGCTGCTCCCCCCAACCCCTGCTGCTCC TCCCAACCCCTGCTGCTCCTCCCAACCCCTGCTGCTCCCCCCAACC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0019 a0019	a0019c0051 a0019c0051	a0019c0051t0001 a0019c0051t0001	a0019c0051t0001g0249 a0019c0051t0001g0249	1	388	0.0026	95	c.333 others(112): Show c.3332-361_3332-360insGGTTGGGGGGAGCAGCAGGGGTTGGGAG GAGCAGCAGGGGTTGGGAGGAGCAGCAGGGGTTGGGGGGAGCAGCAGGGG TTGGGGGGAGCAGCAGG	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	24/29			chr5	TogoVar
FMNL2_chr2_152330174_152654826	152624051	C C	CTCCCCTC others(88): Show CTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0001 a0002c0002t0017g0001	1	200	0.0050	95	c.183 others(114): Show c.1838-1368_1838-1367insTTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCT TCCCCTCCCCTCCCCTCCC	FMNL2	ENSG00000157827.20	transcript	ENST00000288670.14	protein_coding	15/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
FN3K_chr17_82730615_82756196	82738947	T T	TATATATA others(88): Show TATATATATACGTGTATATATATATATACGTATATATATATACGTATATA TATACGTGTATATATATATATATACACGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18952.hp2 NA18999.hp2 others(1): Show NA18951.hp2 NA18952.hp2 NA18999.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0033 a0001c0001t0003g0113 a0001c0001t0003g0114	4	402	0.0100	95	c.293 others(110): Show c.293+307_293+308insATATATATACGTGTATATATATATATACGT ATATATATATACGTATATATATACGTGTATATATATATATATACACGTGT ATATATATATATATA	FN3K	ENSG00000167363.14	transcript	ENST00000300784.8	protein_coding	2/5			chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586254	C C	CGGAGGGG others(88): Show CGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCA GTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0251 a0001c0001t0048g0251	1	308	0.0033	95	c.157 others(110): Show c.1576+54_1576+55insGGAGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTCAAAGGTAGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586304	C C	CAGTGGGG others(88): Show CAGTGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCA GTGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0059 a0001c0003t0008g0059	1	308	0.0033	95	c.157 others(112): Show c.1576+104_1576+105insAGTGGGGAATGGAGGAGAGGGGAGACCA CAGGGAGGTCAAAGGTGGGCAGTGGGGAATGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586449	C C	CGGAGGGG others(88): Show CGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTAGGCG GAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0089 a0001c0001t0017g0089	1	308	0.0033	95	c.157 others(112): Show c.1576+249_1576+250insGGAGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAAGTCAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTAGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586449	C C	CGGAGGGG others(88): Show CGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCA GTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp1 HG02145.hp1 HG02451.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0015 a0001c0001 a0014c0015	a0001c0001t0006 a0014c0015t0006 a0001c0001t0006 a0014c0015t0006	a0001c0001t0006g0248 a0014c0015t0006g0189 a0001c0001t0006g0248 a0014c0015t0006g0189	2	308	0.0065	95	c.157 others(112): Show c.1576+249_1576+250insGGAGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
FRMD3_chr9_83239622_83543401	83479628	G G	GAAAGAAA others(88): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA GAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0019 a0001c0001t0022g0019	1	242	0.0041	95	c.147 others(114): Show c.147+58456_147+58457insTCCTTCCTTCCTTCCCTCCCTCCCTC CCTCCCTCCCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMPD4_chrX_12133473_12729523	12193774	G G	GAAAGAAA others(88): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0080 a0001c0002t0002g0080	1	174	0.0058	95	c.41+ others(112): Show c.41+54762_41+54763insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAA	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16			chrX	TogoVar
FTCD_chr21_46131779_46160579	46135805	C C	CCCCTCCC others(88): Show CCCCTCCCCAGCGTTCCCTCCCAGCCTCCCCTCCCCAGCGTTCCCTCCCA GCCTCCCCTCCCCAGCGTTCCCTCCCAGCCTCCCCTCCCCAGCGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 NA18971.hp1 HG00438.hp2 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0003 a0002c0006t0001 a0001c0003t0003 a0002c0006t0001	a0001c0003t0003g0074 a0002c0006t0001g0099 a0001c0003t0003g0074 a0002c0006t0001g0099	2	230	0.0087	95	c.11 others(106): Show c.1181_*1182insAACGCTGGGGAGGGGAGGCTGGGAGGGAACGCTG GGGAGGGGAGGCTGGGAGGGAACGCTGGGGAGGGGAGGCTGGGAGGGAAC GCTGGGGAGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		973		chr21	TogoVar
GABRR2_chr6_89249464_89320299	89292413	G G	GATATATA others(88): Show GATATATATCGTATCTCTGATATATATATCAGATATATATCGTATCTCTG ATATATATATCAGATATATATCGTATCTCTGATATATATATCAGAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0202 a0001c0001t0010g0202	1	366	0.0027	95	c.220 others(112): Show c.220+7345_220+7346insATCTGATATATATATCAGAGATACGATA TATATCTGATATATATATCAGAGATACGATATATATCTGATATATATATC AGAGATACGATATATAT	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GALNT9_chr12_132191372_132334589	132233837	T T	TCCCTAGT others(88): Show TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCCTACTGCCACACACTCCATGGGGCGACAGGAGACAGCGTGGAGC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19063.hp1 NA19007.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0161 a0001c0002t0001g0134 a0001c0001t0001g0161 a0001c0002t0001g0134	2	183	0.0109	95	c.107 others(116): Show c.1077+14072_1077+14073insGCTCCACGCTGTCTCCTGTCGCCC CATGGAGTGTGTGGCAGTAGGGGACTCCACGCTGTCTCCTCTGTCGCCCC ATCGAGTGTGTGGCACTAGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GAPVD1_chr9_125256826_125372207	125293630	A A	ATATATAT others(88): Show ATATATATATAATATAAAAATATATATATTATATATATAATATATAAATA TATATATTATATATATATTATATATATAATATAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03098.hp1 HG01109.hp2 HG03098.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0011 a0002c0006t0011	a0002c0006t0011g0121 a0002c0006t0011g0122 a0002c0006t0011g0121 a0002c0006t0011g0122	2	340	0.0059	95	c.-14 others(114): Show c.-149-1785_-149-1784insTAAATATATATATTATATATATATTA TATATATAATATAAAAATATATATATTATATATATAATATAAAAATATAT ATATTATATATATAATATA	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GATD1_chr11_762222_782487	763236	C C	CCCCGCCC others(88): Show CCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCC CCGCCCTCACCCATCCCCGCCCTCACCCGCCCCCGCCCTCACCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01106.hp1 HG01167.hp2 others(3): Show HG00280.hp2 HG01106.hp1 HG01167.hp2 HG01255.hp1 HG01433.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0005 a0001c0001t0062 a0001c0013t0005 a0001c0001t0005 a0001c0001t0062 a0001c0013t0005	a0001c0001t0005g0028 a0001c0001t0005g0048 a0001c0001t0062g0138 others(1): Show a0001c0001t0005g0028 a0001c0001t0005g0048 a0001c0001t0062g0138 a0001c0013t0005g0049	6	430	0.0140	95	c.76 others(106): Show c.7660_*7661insCCGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGAT GGGTGAGGGCGGGGGCGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGGCGG GTGAGGGCGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		3985		chr11	TogoVar
GATD1_chr11_762222_782487	763236	C C	CCCCGCCC others(88): Show CCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCC CCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02040.hp1 HG02165.hp1 others(10): Show HG00438.hp1 HG02040.hp1 HG02165.hp1 HG03654.hp1 HG04115.hp2 NA18939.hp1 NA18950.hp1 NA18959.hp1 NA18964.hp1 NA18977.hp1 NA18977.hp2 NA19005.hp1 NA19012.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0017 a0001c0003t0039 others(1): Show a0001c0003t0004 a0001c0003t0017 a0001c0003t0039 a0001c0003t0040	a0001c0003t0004g0003 a0001c0003t0004g0044 a0001c0003t0004g0146 others(3): Show a0001c0003t0004g0003 a0001c0003t0004g0044 a0001c0003t0004g0146 a0001c0003t0017g0043 a0001c0003t0039g0152 a0001c0003t0040g0142	13	430	0.0302	95	c.76 others(106): Show c.7660_*7661insATGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGGC GGGTGAGGGCGGGGGCGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGGCGG GTGAGGGCGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		3985		chr11	TogoVar
GATD1_chr11_762222_782487	763250	C C	CGCCCCGC others(88): Show CGCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCGC CCCCGCCCTCACCCGCCCCCCGCCCTCACCTGCCCCGCCCTCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	1	430	0.0023	95	c.76 others(106): Show c.7646_*7647insAGGTGAGGGCGGGGCAGGTGAGGGCGGGGGGCGG GTGAGGGCGGGGGCGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGGCGGGT GAGGGCGGGGC	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		3971		chr11	TogoVar
GHRH_chr20_37246086_37266814	37265405	C C	CTCAGGAG others(88): Show CTCAGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTAGAGGCTG CAGTGAGCTATGTTCGTGCTTCCGTACTCCAGCCTGGGCAATGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	408	0.0025	95	c.-36 others(106): Show c.-3683_-3682insCTCCATTGCCCAGGCTGGAGTACGGAAGCACGAA CATAGCTCACTGCAGCCTCTAACTCCTGGGCTCAAGTGATCCTCCTGCCT CAGCCTCCTGA	GHRH	ENSG00000118702.11	transcript	ENST00000373614.7	protein_coding		3592		chr20	TogoVar
GNA12_chr7_2723105_2849308	2812636	A A	AACATCAC others(88): Show AACATCACATCACATCACATCACATCACATCACATCACATCACATCACAT CACATCACATCACATCACATCACATCACATCACATCACATCACATC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp1 HG01074.hp2 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0314 a0001c0001t0005g0315 a0001c0001t0005g0314 a0001c0001t0005g0315	2	322	0.0062	95	c.310 others(114): Show c.310-17494_310-17493insGATGTGATGTGATGTGATGTGATGTG ATGTGATGTGATGTGATGTGATGTGATGTGATGTGATGTGATGTGATGTG ATGTGATGTGATGTGATGT	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	1/3			chr7	TogoVar
GOT1_chr10_99391870_99435624	99428626	G G	GGGATTAC others(88): Show GGGATTACAGGCGTGAGCCACCGTGGCAGGCAAAATCTGACGTTTTAAAA AGATGTATTTAGATTGACAGTAATACTAGTTCTTTGTATACATCCC	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	354	0.0028	95	c.118 others(112): Show c.118+1727_118+1821dupGGGATGTATACAAAGAACTAGTATTACT GTCAATCTAAATACATCTTTTTAAAACGTCAGATTTTGCCTGCCACGGTG GCTCACGCCTGTAATCC	GOT1	ENSG00000120053.12	transcript	ENST00000370508.7	protein_coding	1/8			chr10	TogoVar
GPC5_chr13_91393621_92872237	92347874	A A	ATTATATA others(88): Show ATTATATATATAATATATAATATATATATTATATATATTATATAATATAT AATATATATATTATATATAATATATATATTATATATTATATATAAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	42	0.0238	95	c.156 others(118): Show c.1561+202885_1561+202886insTTATATATATAATATATAATAT ATATATTATATATATTATATAATATATAATATATATATTATATATAATAT ATATATTATATATTATATATAAT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7			chr13	TogoVar
GPR139_chr16_20023239_20078890	20041128	A A	AAGGAAAG others(88): Show AAGGAAAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18986.hp2 NA18982.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0023 a0001c0001t0005 a0001c0001t0023	a0001c0001t0005g0209 a0001c0001t0023g0036 a0001c0001t0005g0209 a0001c0001t0023g0036	2	364	0.0055	95	c.128 others(112): Show c.128-8460_128-8459insCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTTTCCT	GPR139	ENSG00000180269.8	transcript	ENST00000570682.2	protein_coding	1/1			chr16	TogoVar
GPR158_chr10_25170001_25607229	25241372	C C	CTCTCTTC others(88): Show CTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0021 a0002c0002t0007g0021	1	162	0.0062	95	c.100 others(116): Show c.1008+20256_1008+20257insCTCTTCTCTTCTCTTCTCTTCTCT TCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCT TCTCTTCTCTTCTCTTCTCTT	GPR158	ENSG00000151025.11	transcript	ENST00000376351.4	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
GPR35_chr2_240620480_240638159	240623303	A A	ATGAGGGT others(88): Show ATGAGGGTGCAAACAGGTCGTGAGGGTGCAAACAGGTCGTGAGGGCGCAA ACAGGTCGTGAGGGTGCAAACAGGTCGTGAGGGCGCAAACAGGTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0002 a0018c0022t0002	a0018c0022t0002g0109 a0018c0022t0002g0109	1	400	0.0025	95	c.-22 others(106): Show c.-2270_-2269insTGAGGGTGCAAACAGGTCGTGAGGGTGCAAACAG GTCGTGAGGGCGCAAACAGGTCGTGAGGGTGCAAACAGGTCGTGAGGGCG CAAACAGGTCG	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding		2176		chr2	TogoVar
GPR35_chr2_240620480_240638159	240623310	C C	TGCAAACA others(88): Show TGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTC GTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0020 a0002c0002t0008g0020	1	400	0.0025	95	c.-22 others(106): Show c.-2264_-2263insTGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTG AGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACA GGTCGTGAGGG	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding		2170		chr2	TogoVar
GPR35_chr2_240620480_240638159	240623405	C C	CGCAAACA others(88): Show CGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGTGCAAACAGGTC GTGAGGGTGCAAACAGGTCGTGAGGGTGCAAACAGGTCATGAGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	400	0.0025	95	c.-21 others(106): Show c.-2168_-2167insGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGA GGGTGCAAACAGGTCGTGAGGGTGCAAACAGGTCGTGAGGGTGCAAACAG GTCATGAGGGT	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding		2074		chr2	TogoVar
GPR35_chr2_240620480_240638159	240623452	G G	GTCGTGAG others(88): Show GTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCG CAAACAGATCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0203 a0002c0002t0004g0203	1	400	0.0025	95	c.-21 others(106): Show c.-2121_-2120insTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAA CAGGTCGTGAGGGCGCAAACAGATCGTGAGGGCGCAAACAGGTCGTGAGG GCGCAAACAGA	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding		2027		chr2	TogoVar
GPR35_chr2_240620480_240638159	240623462	T T	TGCAAACA others(88): Show TGCAAACAGGTCGTGAGGGTGCAAACAGGTCGTGAGGGCGCAAACAGGTC GTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	400	0.0025	95	c.-21 others(106): Show c.-2111_-2110insGCAAACAGGTCGTGAGGGTGCAAACAGGTCGTGA GGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAG GTCGTGAGGGC	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding		2017		chr2	TogoVar
GREB1_chr2_11529045_11647788	11637028	G G	GCGGGGCA others(88): Show GCGGGGCAGAGGCAGGGAAATGGGCAGAGGCAGGGGTAGAGGCAGGGGCA GGGGCAGAGGCAGGGGCAGGGACAGGGGCAGGGACAGAGGCAGGGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02922.hp2 HG03453.hp2 others(2): Show HG01070.hp2 HG02922.hp2 HG03453.hp2 HG03516.hp2 NA19030.hp1	a0017 a0023 a0037 a0017 a0023 a0037	a0017c0022 a0023c0074 a0037c0048 a0017c0022 a0023c0074 a0037c0048	a0017c0022t0014 a0023c0074t0014 a0037c0048t0014 a0017c0022t0014 a0023c0074t0014 a0037c0048t0014	a0017c0022t0014g0068 a0017c0022t0014g0071 a0017c0022t0014g0073 others(2): Show a0017c0022t0014g0068 a0017c0022t0014g0071 a0017c0022t0014g0073 a0023c0074t0014g0301 a0037c0048t0014g0008	5	308	0.0162	95	c.534 others(112): Show c.5347-687_5347-686insGGGGCAGAGGCAGGGAAATGGGCAGAGG CAGGGGTAGAGGCAGGGGCAGGGGCAGAGGCAGGGGCAGGGACAGGGGCA GGGACAGAGGCAGGGAC	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	30/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRIK1_chr21_29531933_29944996	29888161	T T	TTTTCTTT others(88): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	162	0.0062	95	c.118 others(114): Show c.118+51221_118+51222insGAAAGAAAGAAAGAAAGAAGGAAGGA AGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAA	GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	1/17			chr21	TogoVar
GTF2A1L_chr2_48612856_48684604	48615466	A A	AGGAGAGG others(88): Show AGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGA GGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01257.hp2 HG02040.hp1 others(4): Show HG01168.hp1 HG01257.hp2 HG02040.hp1 HG02129.hp2 HG02809.hp2 HG03654.hp1 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0001 a0002c0002t0001 a0002c0006t0001 a0001c0001t0001 a0002c0002t0001 a0002c0006t0001	a0001c0001t0001g0265 a0002c0002t0001g0203 a0002c0002t0001g0211 others(4): Show a0001c0001t0001g0265 a0002c0002t0001g0203 a0002c0002t0001g0211 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0006t0001g0093	7	344	0.0204	95	c.-24 others(106): Show c.-2409_-2408insGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGA GACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGG AGAGGGAGACG	GTF2A1L	ENSG00000242441.8	transcript	ENST00000403751.8	protein_coding		2389		chr2	TogoVar
GTPBP6_chrX_299759_323796	323565	T T	TGTGTGTG others(88): Show TGTGTGTGTAGCCGTCAGTCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGT TCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0029 a0029	a0029c0030 a0029c0030	a0029c0030t0003 a0029c0030t0003	a0029c0030t0003g0102 a0029c0030t0003g0102	1	155	0.0065	95	c.-47 others(106): Show c.-4779_-4778insGTCCCTGAGCTCACCACCTGGGGACGCCCTCATT CCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTGACG GCTACACACAC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4770		chrX	TogoVar
HES4_chr1_993964_1005097	998757	C C	CGCGGAGG others(88): Show CGCGGAGGGGAGGGCGCGGAGCGGAGGGGAGGGCGCGGAGCGGAGGGGAG GGCGCGGAGCGGAGGGGAGGGCGCGGAGCGGAGGGGAGGGCGCGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18983.hp2 NA19058.hp2 others(3): Show NA18963.hp1 NA18983.hp2 NA19058.hp2 NA19074.hp1 NA19087.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	396	0.0152	95	c.30 others(104): Show c.301_*302insTCCGCGCCCTCCCCTCCGCTCCGCGCCCTCCCCTCC GCTCCGCGCCCTCCCCTCCGCTCCGCGCCCTCCCCTCCGCTCCGCGCCCT CCCCTCCGC	HES4	ENSG00000188290.11	transcript	ENST00000304952.11	protein_coding		206		chr1	TogoVar
HIGD1C_chr12_50947544_50975607	50948889	G G	GGGGAGGG others(88): Show GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA19064.hp1 NA19074.hp1 others(1): Show NA18994.hp1 NA19064.hp1 NA19074.hp1 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0026 a0001c0002t0002g0126 others(1): Show a0001c0002t0002g0001 a0001c0002t0002g0026 a0001c0002t0002g0126 a0001c0002t0002g0138	4	380	0.0105	95	c.-38 others(106): Show c.-3890_-3889insGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3654		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50948889	G G	GGGGAGGG others(88): Show GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 NA19007.hp1 NA19087.hp2 HG03834.hp2 NA19007.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	3	380	0.0079	95	c.-38 others(106): Show c.-3890_-3889insGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3654		chr12	TogoVar

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