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
FSTL5_chr4_161378897_162169000	161556844	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	142	0.0070	30	c.101 others(51): Show c.1016-14152_1016-14151insTATATATATATATATATATATATA TATATA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	8/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161783689	T T	TCCTTCCT others(23): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	142	0.0070	30	c.410 others(47): Show c.410-7616_410-7615insGAAAGGAAGGAAGGAAGGAAGGAAGGAA GG	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	4/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161929681	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0008 a0001c0003t0002g0008	1	142	0.0070	30	c.161 others(47): Show c.161-9030_161-9029insTATACACACACACACACACACACACACA CA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	3/15			chr4	TogoVar
FST_chr5_53475629_53492134	53476035	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00639.hp2 others(6): Show HG00099.hp1 HG00408.hp2 HG00639.hp2 HG02135.hp1 HG02572.hp2 HG04199.hp1 NA18953.hp1 NA19077.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0067 a0001c0001t0007g0002	9	462	0.0195	30	c.-47 others(41): Show c.-4757_-4756insTATATATATATATATATATATATATATATA	FST	ENSG00000134363.12	transcript	ENST00000256759.8	protein_coding		4593		chr5	TogoVar
FST_chr5_53475629_53492134	53476035	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 NA18982.hp2 HG01192.hp2 NA18982.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0002 a0001c0001t0001 a0003c0006t0002	a0001c0001t0001g0093 a0003c0006t0002g0003 a0001c0001t0001g0093 a0003c0006t0002g0003	2	462	0.0043	30	c.-47 others(41): Show c.-4757_-4756insTTTATATATATATATATATATATATATATA	FST	ENSG00000134363.12	transcript	ENST00000256759.8	protein_coding		4593		chr5	TogoVar
FTCDNL1_chr2_199804272_199856192	199851119	T T	TCGCCGCC others(23): Show TCGCCGCCGCGCGTGGCCCGCGCGCAGCCTC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0293 a0001c0001t0039g0293	1	384	0.0026	30	c.-41 others(39): Show c.-417_-388dupGAGGCTGCGCGCGGGCCACGCGCGGCGGCG	FTCDNL1	ENSG00000226124.10	transcript	ENST00000420128.6	protein_coding	1/5	2158		chr2	TogoVar
FTCD_chr21_46131779_46160579	46134395	T T	TAGGGTCA others(23): Show TAGGGTCAGGGTCAGGGTCAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18983.hp2 NA18973.hp1 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0096 a0001c0002t0001g0097	2	230	0.0087	30	c.25 others(41): Show c.2591_*2592insGACCCTGACCCTGACCCTGACCCTGACCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2383		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134395	T T	TAGGGTCA others(23): Show TAGGGTCAGGGTCAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02622.hp1 HG03130.hp2 others(1): Show HG01167.hp2 HG02622.hp1 HG03130.hp2 NA18906.hp2	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0001 a0003c0049 a0012c0051 a0001c0001 a0003c0049 a0012c0051	a0001c0001t0001 a0003c0049t0001 a0012c0051t0001 a0001c0001t0001 a0003c0049t0001 a0012c0051t0001	a0001c0001t0001g0181 a0001c0001t0001g0188 a0003c0049t0001g0136 others(1): Show a0001c0001t0001g0181 a0001c0001t0001g0188 a0003c0049t0001g0136 a0012c0051t0001g0117	4	230	0.0174	30	c.25 others(41): Show c.2591_*2592insGACCCTAAACCTGACCCTGACCCTGACCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2383		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134395	T T	TAGGGTCA others(23): Show TAGGGTCAGGTTTAGGGTCAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG00140.hp2 HG00738.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0007 a0004c0007t0007	a0004c0007t0007g0063 a0004c0007t0007g0078 a0004c0007t0007g0063 a0004c0007t0007g0078	2	230	0.0087	30	c.25 others(41): Show c.2591_*2592insGACCCTGACCCTGACCCTAAACCTGACCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2383		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134443	T T	TAGGGTCA others(23): Show TAGGGTCAGGGTCAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0002 a0001c0052t0002	a0001c0052t0002g0190 a0001c0052t0002g0190	1	230	0.0044	30	c.25 others(41): Show c.2543_*2544insGACCCTAAACCTGACCCTGACCCTGACCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2335		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134471	G G	GTCAGGGT others(23): Show GTCAGGGTCAGGGTCAGGGTGAGGGTCAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0178 a0001c0004t0002g0178	1	230	0.0044	30	c.25 others(41): Show c.2515_*2516insACCTGACCCTCACCCTGACCCTGACCCTGA	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2307		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134491	C C	CAGGGTGA others(23): Show CAGGGTGAGGGTCAGGTTTAGGGTCAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02886.hp1 HG01081.hp1 HG02886.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0002 a0002c0006t0002 a0001c0004t0002 a0002c0006t0002	a0001c0004t0002g0140 a0002c0006t0002g0031 a0001c0004t0002g0140 a0002c0006t0002g0031	2	230	0.0087	30	c.24 others(41): Show c.2495_*2496insCACCCTGACCCTAAACCTGACCCTCACCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2287		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134677	C C	CAGGTTTA others(23): Show CAGGTTTAGGGTCAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	230	0.0044	30	c.23 others(41): Show c.2309_*2310insAAACCTGACCCTCACCCTGACCCTAAACCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2101		chr21	TogoVar
FTCD_chr21_46131779_46160579	46137741	C C	CTTTCCTA others(23): Show CTTTCCTATAAAGAACCCGAAGACCATGAGG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0028 a0028	a0028c0018 a0028c0018	a0028c0018t0002 a0028c0018t0002	a0028c0018t0002g0026 a0028c0018t0002g0026	1	230	0.0044	30	c.144 others(47): Show c.1444-437_1444-408dupCCTCATGGTCTTCGGGTTCTTTATAGGA AA	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	12/13			chr21	TogoVar
FTHL17_chrX_31066233_31077041	31066709	A A	ATATACAC others(23): Show ATATACACACACATATACACACATATATGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	336	0.0030	30	c.46 others(41): Show c.4692_*4693insCACATATATGTGTGTATATGTGTGTGTATA	FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding		4523		chrX	TogoVar
FTHL17_chrX_31066233_31077041	31067008	C C	CATATGTG others(23): Show CATATGTGTATATACACACATACACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(8): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG01099.hp1 HG01123.hp2 HG01256.hp1 HG01516.hp2 HG01517.hp1 HG02818.hp2 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000	11	336	0.0327	30	c.43 others(41): Show c.4393_*4394insATGTGTGTGTATGTGTGTATATACACATAT	FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding		4224		chrX	TogoVar
FTHL17_chrX_31066233_31077041	31067421	C C	CATACGCA others(23): Show CATACGCACACACACGTGTGTATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	336	0.0030	30	c.39 others(41): Show c.3980_*3981insATGTGTATATACACACGTGTGTGTGCGTAT	FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding		3811		chrX	TogoVar
FTO_chr16_53699156_54126941	53950155	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02027.hp1 HG03710.hp1 others(1): Show HG00735.hp2 HG02027.hp1 HG03710.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0066 a0001c0001t0001 a0001c0001t0002 a0001c0001t0066	a0001c0001t0001g0115 a0001c0001t0001g0174 a0001c0001t0002g0175 others(1): Show a0001c0001t0001g0115 a0001c0001t0001g0174 a0001c0001t0002g0175 a0001c0001t0066g0133	4	194	0.0206	30	c.136 others(51): Show c.1364+16070_1364+16071insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	FTO	ENSG00000140718.22	transcript	ENST00000471389.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
FTO_chr16_53699156_54126941	53950155	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAACAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	194	0.0052	30	c.136 others(51): Show c.1364+16064_1364+16065insCAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	FTO	ENSG00000140718.22	transcript	ENST00000471389.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
FTO_chr16_53699156_54126941	53990655	T T	TTTTTATT others(23): Show TTTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02258.hp2 others(9): Show HG01884.hp2 HG02055.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02723.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp1 HG03098.hp2 HG04199.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 others(4): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0047 a0002c0004t0009	a0001c0001t0005g0054 a0001c0001t0005g0112 a0001c0001t0006g0008 others(9): Show a0001c0001t0005g0054 a0001c0001t0005g0112 a0001c0001t0006g0008 a0001c0001t0006g0017 a0001c0001t0006g0018 a0001c0001t0009g0042 a0001c0001t0009g0141 a0001c0001t0009g0142 a0001c0001t0010g0186 a0001c0001t0016g0009 a0001c0001t0047g0192 a0002c0004t0009g0001	12	194	0.0619	30	c.136 others(51): Show c.1364+56575_1364+56576insATTTTATTTTATTTTATTTTATTT TATTTT	FTO	ENSG00000140718.22	transcript	ENST00000471389.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
FUBP3_chr9_130574577_130643352	130589675	G G	GTGTGTGT others(23): Show GTGTGTGTATGTGTATGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0112 a0001c0002t0002g0112	1	378	0.0027	30	c.85- others(45): Show c.85-5807_85-5806insGTGTGTATGTGTATGTATATATATATATAT	FUBP3	ENSG00000107164.17	transcript	ENST00000319725.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
FUT8_chr14_65407730_65749121	65433786	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0255 a0002c0004t0001g0255	1	374	0.0027	30	c.-32 others(51): Show c.-326+20575_-326+20604dupTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65474441	G G	GAAAAAAA others(23): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0251 a0002c0004t0001g0251	1	374	0.0027	30	c.-22 others(51): Show c.-228+18739_-228+18740insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65580070	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0279	1	374	0.0027	30	c.203 others(49): Show c.203+18324_203+18325insTATATATATATATATATATATATATA TATA	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65677151	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0055 a0001c0001t0002g0059	2	374	0.0054	30	c.835 others(47): Show c.835+7672_835+7673insTGTGTGTGTGTGTGCGCGCGCGCGCGCG CG	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FXR1_chr3_180907670_180987753	180964673	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0056 a0001c0001t0012g0056	1	320	0.0031	30	c.119 others(49): Show c.1198+1611_1198+1612insTATATATATATATATATATATATATA TATA	FXR1	ENSG00000114416.19	transcript	ENST00000357559.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
FXR2_chr17_7586230_7619897	7609980	A A	ATATACAT others(23): Show ATATACATACATGTATATATATACATGTATG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	426	0.0024	30	c.82- others(45): Show c.82-3832_82-3831insCATACATGTATATATATACATGTATGTATA	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/16			chr17	TogoVar
FXYD4_chr10_43366636_43381335	43367417	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00735.hp2 HG02451.hp1 others(18): Show HG00609.hp1 HG00735.hp2 HG02451.hp1 HG02622.hp2 HG02922.hp1 HG03139.hp2 HG03225.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03669.hp2 HG04184.hp1 HG04199.hp2 NA18956.hp2 NA18980.hp2 NA19002.hp1 NA19011.hp2 NA19065.hp1 NA19080.hp1 NA19090.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0002 a0004c0003t0002 a0001c0001t0002 a0004c0003t0002	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0011 others(5): Show a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0031 a0004c0003t0002g0002	21	426	0.0493	30	c.-45 others(41): Show c.-4559_-4558insTATATATATATATATATATATATATATATA	FXYD4	ENSG00000150201.15	transcript	ENST00000476166.6	protein_coding		4218		chr10	TogoVar
FXYD5_chr19_35149735_35174881	35161221	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG01978.hp1 others(21): Show HG00423.hp1 HG00673.hp2 HG01978.hp1 HG02451.hp2 HG02683.hp2 HG02976.hp2 HG03195.hp1 HG03239.hp2 HG03516.hp2 NA18942.hp1 NA18960.hp1 NA18968.hp1 NA18970.hp1 NA18978.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA19000.hp1 NA19010.hp2 NA19064.hp2 NA19070.hp2 NA19082.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004	a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0071 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0071 a0001c0001t0001g0168 a0001c0001t0001g0234 a0001c0001t0002g0089 a0001c0001t0002g0235 a0001c0001t0003g0004 a0001c0001t0003g0018 a0001c0001t0003g0118 a0002c0002t0001g0082 a0002c0002t0002g0081 a0002c0002t0002g0167 a0002c0002t0003g0256 a0002c0002t0003g0257 a0002c0002t0004g0204	24	462	0.0520	30	c.292 others(45): Show c.292+447_292+448insCACACACACACACACACACACACACACACA	FXYD5	ENSG00000089327.15	transcript	ENST00000392219.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
FYCO1_chr3_45912903_46000824	45962003	A A	ATACAAGC others(23): Show ATACAAGCTTCCACTTGTATCAGCTGCCTGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0123 a0001c0002t0004g0123	1	336	0.0030	30	c.343 others(47): Show c.3437+192_3437+221dupCCAGGCAGCTGATACAAGTGGAAGCTTG TA	FYCO1	ENSG00000163820.16	transcript	ENST00000296137.7	protein_coding	11/17			chr3	TogoVar
FYTTD1_chr3_197744883_197792596	197792577	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01192.hp1 HG01192.hp2 others(23): Show HG01069.hp2 HG01192.hp1 HG01192.hp2 HG01346.hp2 HG01361.hp2 HG01891.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp1 HG02683.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03195.hp1 HG03492.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03942.hp1 HG03942.hp2 NA18952.hp2 NA18973.hp1 NA18986.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0022 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0044 a0001c0005t0013 a0002c0002t0002 a0002c0002t0033	a0001c0001t0001g0074 a0001c0001t0001g0105 a0001c0001t0001g0116 others(23): Show a0001c0001t0001g0074 a0001c0001t0001g0105 a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0145 a0001c0001t0001g0172 a0001c0001t0001g0186 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0006g0100 a0001c0001t0014g0188 a0001c0001t0022g0128 a0001c0001t0034g0071 a0001c0001t0036g0224 a0001c0001t0037g0148 a0001c0001t0044g0149 a0001c0005t0013g0206 a0002c0002t0002g0005 a0002c0002t0002g0023 a0002c0002t0033g0055	26	256	0.1016	30	c.10 others(43): Show c.10668_*10669insTATATATATATATATATATATATATATATA	FYTTD1	ENSG00000122068.13	transcript	ENST00000241502.9	protein_coding		4982		chr3	TogoVar
FZD7_chr2_202028855_202043441	202040052	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	420	0.0024	30	c.36 others(41): Show c.3680_*3681insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	FZD7	ENSG00000155760.3	transcript	ENST00000286201.3	protein_coding		1612		chr2	TogoVar
G3BP2_chr4_75637786_75678411	75643295	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp2 NA19087.hp1 NA19030.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0045 a0001c0001t0038 a0001c0001t0045	a0001c0001t0038g0051 a0001c0001t0045g0092 a0001c0001t0038g0051 a0001c0001t0045g0092	2	330	0.0061	30	c.21 others(41): Show c.2134_*2135insTATATATATATATATATATATATATATATA	G3BP2	ENSG00000138757.15	transcript	ENST00000359707.9	protein_coding	12/12	2134		chr4	TogoVar
GAA_chr17_80096581_80124881	80120357	C C	CCCTCCCC others(23): Show CCCTCCCCTCCTCCCCTCCCCTCTCACCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0011 a0004c0004t0011	a0004c0004t0011g0072 a0004c0004t0011g0072	1	416	0.0024	30	c.10 others(41): Show c.1026_*1027insCCTCCCCTCCTCCCCTCCCCTCTCACCTGA	GAA	ENSG00000171298.14	transcript	ENST00000302262.8	protein_coding		477		chr17	TogoVar
GAB1_chr4_143331876_143479565	143373856	T T	TCTCTCTC others(23): Show TCTCTCTCTCTGTAAATAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0078	1	194	0.0052	30	c.72+ others(47): Show c.72+36596_72+36597insCTCTCTCTCTGTAAATAAATAAATAAAT AA	GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9			chr4	TogoVar
GAB1_chr4_143331876_143479565	143373864	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02630.hp2 HG03491.hp1 others(2): Show HG00099.hp1 HG02630.hp2 HG03491.hp1 HG06807.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0072 a0001c0001t0002g0023 a0001c0001t0002g0028 others(2): Show a0001c0001t0001g0072 a0001c0001t0002g0023 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0003g0045	5	194	0.0258	30	c.72+ others(47): Show c.72+36607_72+36608insTATATATATATATATATATATATATATA TA	GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAB2_chr11_78210293_78422820	78267857	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03453.hp1 HG02717.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0021 a0001c0004t0041 a0001c0002t0021 a0001c0004t0041	a0001c0002t0021g0126 a0001c0004t0041g0101 a0001c0002t0021g0126 a0001c0004t0041g0101	2	288	0.0069	30	c.376 others(49): Show c.376+12743_376+12744insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	2/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78307614	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp2 HG02717.hp2 others(4): Show HG02257.hp1 HG02486.hp2 HG02717.hp2 HG02965.hp1 HG03098.hp2 HG03139.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0008 a0001c0003t0004 a0001c0003t0008	a0001c0003t0004g0132 a0001c0003t0004g0133 a0001c0003t0008g0095 others(4): Show a0001c0003t0004g0132 a0001c0003t0004g0133 a0001c0003t0008g0095 a0001c0003t0008g0096 a0001c0003t0008g0097 a0001c0003t0008g0098 a0001c0003t0008g0228	7	288	0.0243	30	c.76- others(47): Show c.76-26714_76-26713insGTCTCTCTCTCTCTCTCTCTCTCTCTCT CT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78309971	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02922.hp2 HG02818.hp2 HG02922.hp2	a0001 a0003 a0001 a0003	a0001c0008 a0003c0006 a0001c0008 a0003c0006	a0001c0008t0053 a0003c0006t0007 a0001c0008t0053 a0003c0006t0007	a0001c0008t0053g0123 a0003c0006t0007g0271 a0001c0008t0053g0123 a0003c0006t0007g0271	2	288	0.0069	30	c.76- others(47): Show c.76-29071_76-29070insGCGCGCACACACACACACACACACACAC AC	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78398041	C C	CACACACA others(23): Show CACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03098.hp1 HG02622.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0046 a0001c0005t0013 a0001c0001t0046 a0001c0005t0013	a0001c0001t0046g0116 a0001c0005t0013g0131 a0001c0001t0046g0116 a0001c0005t0013g0131	2	288	0.0069	30	c.75+ others(47): Show c.75+19604_75+19605insATGTGTGTGTGTGTGTGTGTGTGTGTGT GT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB3_chrX_154670249_154756077	154672242	T T	TTTCTTCC others(23): Show TTTCTTCCTCTTCTTCTTCTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 NA18971.hp1 HG02976.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0135 a0001c0001t0002g0007 a0001c0001t0001g0135 a0001c0001t0002g0007	2	257	0.0078	30	c.59 others(41): Show c.5935_*5936insGAAGAAGAAGAAGAAGAAGAAGAGGAAGAA	GAB3	ENSG00000160219.12	transcript	ENST00000424127.3	protein_coding		3006		chrX	TogoVar
GABBR2_chr9_98283109_98713935	98436286	T T	TATATATA others(23): Show TATATATATATATATATATATATATCCATAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03041.hp2 HG02280.hp2 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0015 a0002c0014 a0001c0015 a0002c0014	a0001c0015t0014 a0002c0014t0006 a0001c0015t0014 a0002c0014t0006	a0001c0015t0014g0039 a0002c0014t0006g0068 a0001c0015t0014g0039 a0002c0014t0006g0068	2	164	0.0122	30	c.123 others(51): Show c.1236+17694_1236+17695insTTATGGATATATATATATATATAT ATATAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98447063	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG04228.hp2 NA18967.hp2 others(1): Show HG00741.hp2 HG04228.hp2 NA18967.hp2 NA19007.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0001 a0001c0001t0008 a0001c0002t0023 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0023 a0002c0008t0004	a0001c0001t0001g0150 a0001c0001t0008g0094 a0001c0002t0023g0151 others(1): Show a0001c0001t0001g0150 a0001c0001t0008g0094 a0001c0002t0023g0151 a0002c0008t0004g0161	4	164	0.0244	30	c.123 others(49): Show c.1236+6917_1236+6918insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98463609	C C	CTCTCGCT others(23): Show CTCTCGCTCTCCGTCTCGCTCTCGCTCTCCG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03710.hp1 HG03831.hp1 others(2): Show HG02135.hp2 HG03710.hp1 HG03831.hp1 NA18982.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 others(1): Show a0001c0001 a0001c0002 a0002c0006 a0002c0010	a0001c0001t0012 a0001c0001t0021 a0001c0002t0009 others(2): Show a0001c0001t0012 a0001c0001t0021 a0001c0002t0009 a0002c0006t0007 a0002c0010t0007	a0001c0001t0012g0117 a0001c0001t0021g0106 a0001c0002t0009g0095 others(2): Show a0001c0001t0012g0117 a0001c0001t0021g0106 a0001c0002t0009g0095 a0002c0006t0007g0033 a0002c0010t0007g0032	5	164	0.0305	30	c.100 others(49): Show c.1000-9393_1000-9392insCGGAGAGCGAGAGCGAGACGGAGAGC GAGA	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	6/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98648116	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01261.hp2 HG01884.hp1 HG01256.hp1 HG01261.hp2 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0011 a0001c0002t0001 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001	a0001c0001t0008g0107 a0001c0001t0011g0055 a0001c0002t0001g0127 a0001c0001t0008g0107 a0001c0001t0011g0055 a0001c0002t0001g0127	3	164	0.0183	30	c.321 others(49): Show c.321+60300_321+60301insCTATCTATCTATACACACACACACAC ACAC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98648116	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTATAGATAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02809.hp2 HG03139.hp2 others(1): Show HG01109.hp2 HG02809.hp2 HG03139.hp2 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0004	a0001c0001t0015 a0001c0003t0008 a0001c0005t0013 others(1): Show a0001c0001t0015 a0001c0003t0008 a0001c0005t0013 a0002c0004t0006	a0001c0001t0015g0020 a0001c0003t0008g0089 a0001c0005t0013g0118 others(1): Show a0001c0001t0015g0020 a0001c0003t0008g0089 a0001c0005t0013g0118 a0002c0004t0006g0101	4	164	0.0244	30	c.321 others(49): Show c.321+60300_321+60301insCTATCTATACACACACACACACACAC ACAC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98688394	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0003 a0001c0021t0003	a0001c0021t0003g0049 a0001c0021t0003g0049	1	164	0.0061	30	c.321 others(49): Show c.321+20022_321+20023insATATATATATATATATATATATATAT ATAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABRA2_chr4_46238548_46395128	46264986	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG03453.hp1 others(1): Show HG02055.hp1 HG02145.hp1 HG03453.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0084 a0001c0001t0093 others(1): Show a0001c0001t0056 a0001c0001t0084 a0001c0001t0093 a0001c0001t0123	a0001c0001t0056g0030 a0001c0001t0084g0061 a0001c0001t0093g0076 others(1): Show a0001c0001t0056g0030 a0001c0001t0084g0061 a0001c0001t0093g0076 a0001c0001t0123g0136	4	258	0.0155	30	c.857 others(47): Show c.857-2859_857-2858insATATATATATATATATATATATATATAT AT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA3_chrX_152161234_152456315	152182633	C C	CTATATAT others(23): Show CTATATATACACTATATATACATATATAGTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02922.hp2 HG03492.hp1 others(1): Show HG02559.hp1 HG02922.hp2 HG03492.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0001 a0001c0001t0002 a0001c0001t0013	a0001c0001t0001g0139 a0001c0001t0001g0194 a0001c0001t0002g0002 others(1): Show a0001c0001t0001g0139 a0001c0001t0001g0194 a0001c0001t0002g0002 a0001c0001t0013g0180	4	204	0.0196	30	c.114 others(49): Show c.1143+7067_1143+7096dupCACTATATATGTATATATAGTGTATA TATA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GABRA3_chrX_152161234_152456315	152294893	C C	CGTTTGCT others(23): Show CGTTTGCTCCAACAGCTGCAGGTCTGTTGGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02886.hp1 HG01496.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0189 a0001c0001t0001g0095 a0001c0001t0001g0189	2	204	0.0098	30	c.263 others(49): Show c.263-10188_263-10159dupTCCAACAGACCTGCAGCTGTTGGAGC AAAC	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	3/9			chrX	TogoVar

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