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
HTR5A_chr7_155065324_155092392	155073875	A A	ATATATGT others(15): Show ATATATGTATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA19072.hp1 HG03710.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0125 a0001c0001t0009g0065 a0001c0001t0001g0125 a0001c0001t0009g0065	2	430	0.0047	22	c.741 others(39): Show c.741+2236_741+2237insATATGTATATATATATATGTGT	HTR5A	ENSG00000157219.5	transcript	ENST00000287907.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
HTR5A_chr7_155065324_155092392	155073903	A A	ATATGTAT others(15): Show ATATGTATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01928.hp2 HG01261.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0114 a0001c0001t0001g0115	2	430	0.0047	22	c.741 others(39): Show c.741+2266_741+2267insGTATATATATATATGTGTGTAT	HTR5A	ENSG00000157219.5	transcript	ENST00000287907.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
HTR5A_chr7_155065324_155092392	155082529	T T	TCTCAAGT others(15): Show TCTCAAGTATGACATGTGTTATA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	430	0.0023	22	c.742 others(39): Show c.742-1614_742-1613insATGTGTTATACTCAAGTATGAC	HTR5A	ENSG00000157219.5	transcript	ENST00000287907.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
HTR6_chr1_19659875_19685966	19661293	G G	GTTCACGC others(15): Show GTTCACGCCATTCTCCTGCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0067 a0001c0001t0044g0067	1	400	0.0025	22	c.-44 others(33): Show c.-4461_-4460insTTCACGCCATTCTCCTGCCTCA	HTR6	ENSG00000158748.4	transcript	ENST00000289753.2	protein_coding		3581		chr1	TogoVar
HUNK_chr21_31868020_32009064	31900446	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02451.hp2 HG02647.hp1 others(2): Show HG02165.hp1 HG02451.hp2 HG02647.hp1 HG02970.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0068 a0001c0002t0005 a0001c0001t0001 a0001c0001t0068 a0001c0002t0005	a0001c0001t0001g0008 a0001c0001t0001g0076 a0001c0001t0001g0078 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0068g0163 a0001c0002t0005g0243	5	328	0.0152	22	c.262 others(41): Show c.262-24010_262-23989dupCACACACACACACACACACACA	HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
HUWE1_chrX_53527096_53691719	53686645	T T	TCAGCCCT others(15): Show TCAGCCCTGCTCCAGCCCTGCTC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0213 a0001c0003t0019g0213	1	214	0.0047	22	c.-32 others(31): Show c.-320_-319insGAGCAGGGCTGGAGCAGGGCTG	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	1/84	32539		chrX	TogoVar
HUWE1_chrX_53527096_53691719	53686656	T T	TCAGCCCT others(15): Show TCAGCCCTGCTCCAGCCCTGCTC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00597.hp2 HG02071.hp1 HG04184.hp1 others(1): Show HG00597.hp2 HG02071.hp1 HG04184.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0017 a0001c0002 a0001c0017	a0001c0002t0007 a0001c0017t0007 a0001c0002t0007 a0001c0017t0007	a0001c0002t0007g0209 a0001c0002t0007g0210 a0001c0002t0007g0211 others(1): Show a0001c0002t0007g0209 a0001c0002t0007g0210 a0001c0002t0007g0211 a0001c0017t0007g0212	4	214	0.0187	22	c.-35 others(31): Show c.-352_-331dupGAGCAGGGCTGGAGCAGGGCTG	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	1/84	32550		chrX	TogoVar
HYAL3_chr3_50287832_50304405	50304296	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	22	c.-51 others(33): Show c.-5102_-5101insATATATATATATATATTTTTTT	HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding		4892		chr3	TogoVar
HYCC2_chr2_200968718_201076671	201047445	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp2 HG02976.hp1 others(1): Show HG02630.hp1 HG02809.hp2 HG02976.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0041 a0001c0001t0003 a0001c0001t0011 a0001c0001t0041	a0001c0001t0003g0161 a0001c0001t0011g0167 a0001c0001t0011g0168 others(1): Show a0001c0001t0003g0161 a0001c0001t0011g0167 a0001c0001t0011g0168 a0001c0001t0041g0160	4	176	0.0227	22	c.-12 others(41): Show c.-128-1853_-128-1852insATATATATATATATATATATAT	HYCC2	ENSG00000155744.10	transcript	ENST00000681958.1	protein_coding	1/12			chr2	TogoVar
HYCC2_chr2_200968718_201076671	201076484	A A	AATATATA others(15): Show AATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0147 a0001c0001t0005g0148	2	176	0.0114	22	c.-50 others(33): Show c.-5025_-5004dupATATATATATATATATATATAT	HYCC2	ENSG00000155744.10	transcript	ENST00000681958.1	protein_coding		4814		chr2	TogoVar
HYCC2_chr2_200968718_201076671	201076512	T T	TATATATA others(15): Show TATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0154 a0001c0001t0005g0154	1	176	0.0057	22	c.-50 others(33): Show c.-5032_-5031insTTATATATATATATATATATAT	HYCC2	ENSG00000155744.10	transcript	ENST00000681958.1	protein_coding		4842		chr2	TogoVar
HYDIN_chr16_70797084_71235722	70902794	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0036 a0003c0004t0005g0036	1	174	0.0058	22	c.884 others(39): Show c.8849+809_8849+830dupATATATATATATATATATATAT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0001 a0002c0021t0001	a0002c0021t0001g0073 a0002c0021t0001g0073	1	174	0.0058	22	c.884 others(39): Show c.8849+803_8849+804insAAAAAAAAAAAATATATATATA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATATAT others(15): Show ATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02976.hp2 HG03195.hp2 HG01192.hp1 HG02976.hp2 HG03195.hp2	a0001 a0005 a0010 a0001 a0005 a0010	a0001c0048 a0005c0012 a0010c0018 a0001c0048 a0005c0012 a0010c0018	a0001c0048t0003 a0005c0012t0001 a0010c0018t0001 a0001c0048t0003 a0005c0012t0001 a0010c0018t0001	a0001c0048t0003g0139 a0005c0012t0001g0037 a0010c0018t0001g0136 a0001c0048t0003g0139 a0005c0012t0001g0037 a0010c0018t0001g0136	3	174	0.0172	22	c.884 others(39): Show c.8849+803_8849+804insAAAAAAAAAAAAAAAATATATA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATATTT others(15): Show ATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0003 a0003	a0003c0047 a0003c0047	a0003c0047t0002 a0003c0047t0002	a0003c0047t0002g0005 a0003c0047t0002g0005	1	174	0.0058	22	c.884 others(39): Show c.8849+803_8849+804insAAAAAAAAAAAAAAAAAATATA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATTTTT others(15): Show ATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0004 a0002c0011t0004	a0002c0011t0004g0080 a0002c0011t0004g0080	1	174	0.0058	22	c.884 others(39): Show c.8849+803_8849+804insAAAAAAAAAAAAAAAAAAAATA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
HYPK_chr15_43795599_43809427	43802569	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0001 a0002c0002t0028g0001	1	356	0.0028	22	c.76 others(31): Show c.764_*785dupAAAAAAAAAAAAAAAAAAAAAA	HYPK	ENSG00000242028.8	transcript	ENST00000442995.4	protein_coding	4/4	786	INFO_REALIGN_3_PRIME	chr15	TogoVar
IAH1_chr2_9469551_9494742	9489259	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0243 a0001c0001t0051g0243	1	342	0.0029	22	c.93 others(31): Show c.933_*954dupTTTTTTTTTTTTTTTTTTTTTT	IAH1	ENSG00000134330.19	transcript	ENST00000497473.6	protein_coding	6/6	955	INFO_REALIGN_3_PRIME	chr2	TogoVar
ICA1L_chr2_202768176_202876766	202847703	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA19004.hp2 NA19064.hp2 HG03688.hp1 NA19004.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0049 a0001c0001t0003g0072 a0001c0001t0007g0142 a0001c0001t0003g0049 a0001c0001t0003g0072 a0001c0001t0007g0142	3	330	0.0091	22	c.-7- others(39): Show c.-7-18688_-7-18687insCATATATATATATATATATATA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICA1_chr7_8108184_8267167	8153836	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01981.hp2 HG02040.hp1 others(10): Show HG01517.hp1 HG01981.hp2 HG02040.hp1 HG02080.hp2 HG02165.hp1 HG02602.hp1 HG03579.hp1 HG03834.hp2 NA18945.hp2 NA18969.hp2 NA18977.hp1 NA19003.hp1 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0002c0007t0013	a0001c0001t0001g0027 a0001c0001t0001g0069 a0001c0001t0001g0207 others(10): Show a0001c0001t0001g0027 a0001c0001t0001g0069 a0001c0001t0001g0207 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0003g0021 a0001c0001t0003g0045 a0001c0001t0006g0239 a0001c0001t0007g0191 a0001c0001t0007g0250 a0001c0001t0010g0257 a0002c0007t0013g0001	13	274	0.0475	22	c.804 others(39): Show c.804+3258_804+3279dupATATATATATATATATATATAT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IDE_chr10_92446684_92579093	92552857	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02630.hp2 others(2): Show HG02145.hp1 HG02257.hp1 HG02630.hp2 HG03579.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0297 a0001c0001t0005g0237 a0001c0001t0005g0238 others(2): Show a0001c0001t0002g0297 a0001c0001t0005g0237 a0001c0001t0005g0238 a0001c0001t0005g0242 a0001c0001t0005g0253	5	314	0.0159	22	c.99- others(39): Show c.99-15308_99-15307insTTTTTTTTTTTTTTTTTTTTTT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	1/24			chr10	TogoVar
IDH3G_chrX_153780768_153799375	153794427	T T	TGCGCACG others(15): Show TGCGCACGCGCGCGGTCGCACCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00673.hp1 NA18612.hp1 others(2): Show HG00323.hp1 HG00673.hp1 NA18612.hp1 NA19066.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0004g0050 a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0004g0050	5	299	0.0167	22	c.-12 others(31): Show c.-123_-102dupCGGTGCGACCGCGCGCGTGCGC	IDH3G	ENSG00000067829.20	transcript	ENST00000217901.10	protein_coding		53		chrX	TogoVar
IDI2_chr10_1013910_1030859	1025010	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	434	0.0023	22	c.-21 others(37): Show c.-21-288_-21-267dupTGTGTGTGTGTGTGTGTGTGTG	IDI2	ENSG00000148377.6	transcript	ENST00000277517.2	protein_coding	1/4			chr10	TogoVar
IDO1_chr8_39908891_39933790	39931881	T T	TGCACCCA others(15): Show TGCACCCACTGTGCCATAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	422	0.0024	22	c.36 others(33): Show c.3696_*3697insGCACCCACTGTGCCATAGAAAG	IDO1	ENSG00000131203.13	transcript	ENST00000518237.6	protein_coding		3092		chr8	TogoVar
IDO2_chr8_39929651_40021392	39934980	G G	GTAAGAAT others(15): Show GTAAGAATACAGAGAGTCCACAA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0206 a0001c0001t0023g0206	1	360	0.0028	22	c.-25 others(31): Show c.-254_-233dupAAGAATACAGAGAGTCCACAAT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	1/11	14162	INFO_REALIGN_3_PRIME	chr8	TogoVar
IER3IP1_chr18_47147834_47181364	47179060	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03516.hp1 HG06807.hp1 HG03195.hp2 HG03516.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0030 a0001c0001t0007g0088 a0001c0001t0007g0089 a0001c0001t0001g0030 a0001c0001t0007g0088 a0001c0001t0007g0089	3	378	0.0079	22	c.-27 others(33): Show c.-2784_-2783insTTTTTTTTTTTTTTTTTTTTTT	IER3IP1	ENSG00000134049.6	transcript	ENST00000256433.6	protein_coding		2697		chr18	TogoVar
IFI27L2_chr14_94122781_94134604	94124920	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG02155.hp2 NA18986.hp1 others(1): Show HG00738.hp1 HG02155.hp2 NA18986.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	433	0.0092	22	c.28 others(33): Show c.2878_*2879insAAAAAAAAAAAAAAAAAAAAAA	IFI27L2	ENSG00000119632.4	transcript	ENST00000238609.4	protein_coding		2860		chr14	TogoVar
IFI35_chr17_43001784_43019456	43007847	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02886.hp1 others(3): Show HG02109.hp2 HG02451.hp2 HG02886.hp1 HG03195.hp2 HG03209.hp1 HG03654.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0001c0001t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0001g0022 a0001c0001t0002g0122 a0001c0001t0002g0123 others(1): Show a0001c0001t0001g0022 a0001c0001t0002g0122 a0001c0001t0002g0123 a0003c0003t0001g0098	6	340	0.0177	22	c.21+ others(35): Show c.21+884_21+905dupTATATATATATATATATATATA	IFI35	ENSG00000068079.8	transcript	ENST00000415816.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
IFI35_chr17_43001784_43019456	43007847	T T	TTTTATAT others(15): Show TTTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02523.hp1 HG02735.hp1 others(2): Show HG02258.hp1 HG02523.hp1 HG02735.hp1 NA18946.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0027 a0001c0001t0001g0028	5	340	0.0147	22	c.21+ others(35): Show c.21+880_21+881insTTATATATATATATATATATAT	IFI35	ENSG00000068079.8	transcript	ENST00000415816.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
IFNA6_chr9_21345318_21355887	21355822	C C	CACACACA others(15): Show CACACACACACAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18972.hp2 NA18939.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	422	0.0047	22	c.-49 others(33): Show c.-4936_-4935insCTCTCTCTCTCTGTGTGTGTGT	IFNA6	ENSG00000120235.5	transcript	ENST00000380210.2	protein_coding		4936		chr9	TogoVar
IFNA7_chr9_21196469_21207205	21197970	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG02040.hp1 others(11): Show HG00544.hp1 HG00609.hp2 HG02040.hp1 HG02109.hp1 HG02135.hp1 HG02486.hp1 HG02630.hp2 NA18943.hp2 NA18949.hp2 NA18951.hp1 NA18974.hp1 NA18974.hp2 NA18987.hp2 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0000 a0002c0003t0001g0000 a0001c0001t0001g0000 a0002c0003t0001g0000	14	456	0.0307	22	c.36 others(33): Show c.3625_*3626insTTTTTTTTTTTTTTTTTTTTTT	IFNA7	ENSG00000214042.1	transcript	ENST00000239347.3	protein_coding		3498		chr9	TogoVar
IFNAR1_chr21_33319970_33364864	33322171	G G	GGAATATA others(15): Show GGAATATATACATGGAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(53): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01071.hp1 HG01106.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG02027.hp1 HG02129.hp2 HG02145.hp1 HG02300.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02738.hp2 HG02818.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG04184.hp1 NA18522.hp2 NA18747.hp2 NA18967.hp1 NA18980.hp1 NA18982.hp1 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA19003.hp1 NA19057.hp2 NA19060.hp1 NA19068.hp1 NA19070.hp2 NA19077.hp1 NA19080.hp2 NA19083.hp1 NA19087.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0002c0002t0002 a0002c0002t0006 a0002c0002t0014 a0002c0002t0016 a0002c0002t0024 a0002c0002t0026 a0002c0002t0033 a0002c0002t0040 a0002c0004t0002	a0001c0001t0001g0183 a0001c0001t0003g0012 a0001c0001t0003g0032 others(40): Show a0001c0001t0001g0183 a0001c0001t0003g0012 a0001c0001t0003g0032 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0174 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0234 a0001c0001t0018g0172 a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0009 a0002c0002t0002g0029 a0002c0002t0002g0168 a0002c0002t0002g0189 a0002c0002t0002g0194 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0203 a0002c0002t0002g0205 a0002c0002t0002g0207 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0229 a0002c0002t0002g0233 a0002c0002t0002g0235 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0006g0009 a0002c0002t0006g0027 a0002c0002t0006g0186 a0002c0002t0014g0202 a0002c0002t0016g0224 a0002c0002t0024g0196 a0002c0002t0026g0210 a0002c0002t0033g0188 a0002c0002t0040g0198 a0002c0004t0002g0033	56	323	0.1734	22	c.-28 others(33): Show c.-2885_-2884insGAATATATACATGGAATATATA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2798		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322224	T T	TATATATA others(15): Show TATATATATGGAATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG03471.hp2 HG06807.hp2 others(2): Show HG02572.hp2 HG03471.hp2 HG06807.hp2 NA18997.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0035 others(1): Show a0001c0001t0007 a0001c0001t0012 a0001c0001t0035 a0001c0001t0036	a0001c0001t0007g0036 a0001c0001t0012g0137 a0001c0001t0012g0139 others(2): Show a0001c0001t0007g0036 a0001c0001t0012g0137 a0001c0001t0012g0139 a0001c0001t0035g0134 a0001c0001t0036g0133	5	323	0.0155	22	c.-28 others(33): Show c.-2832_-2831insATATATATGGAATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2745		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33324892	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG02895.hp1 others(5): Show HG00408.hp2 HG00621.hp1 HG02895.hp1 HG03490.hp1 HG03492.hp1 NA18747.hp2 NA18955.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0002t0006 a0002c0004t0002 a0002c0002t0002 a0002c0002t0006 a0002c0004t0002	a0002c0002t0002g0006 a0002c0002t0002g0009 a0002c0002t0002g0200 others(5): Show a0002c0002t0002g0006 a0002c0002t0002g0009 a0002c0002t0002g0200 a0002c0002t0002g0225 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0006g0237 a0002c0004t0002g0033	8	323	0.0248	22	c.-16 others(31): Show c.-164_-163insGTGTGTGTGTGTGTGTGTGTGT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		77		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33333614	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp2 HG01891.hp1 HG02895.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0016 a0003c0003t0009 a0002c0002t0016 a0003c0003t0009	a0002c0002t0016g0118 a0003c0003t0009g0117 a0002c0002t0016g0118 a0003c0003t0009g0117	2	323	0.0062	22	c.77- others(37): Show c.77-1899_77-1898insTTTTTTTTTTTTTTTTTTTTTT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
IFNAR2_chr21_33224938_33270664	33237078	G G	GGTGGGTG others(15): Show GGTGGGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0339 a0003c0003t0004g0339	1	424	0.0024	22	c.-83 others(39): Show c.-83-4759_-83-4758insGGTGTGTGTGTGTGTGTGTGTG	IFNAR2	ENSG00000159110.22	transcript	ENST00000342136.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr21	TogoVar
IFNG_chr12_68149768_68164740	68161586	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG01517.hp1 others(5): Show HG00733.hp2 HG01109.hp1 HG01517.hp1 HG02451.hp1 NA18940.hp2 NA18961.hp1 NA18974.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0014 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0052	8	422	0.0190	22	c.-19 others(33): Show c.-1972_-1971insAAAAAAAAAAAAAAAAAAAAAA	IFNG	ENSG00000111537.5	transcript	ENST00000229135.4	protein_coding		1847		chr12	TogoVar
IFNL2_chr19_39263396_39275188	39267335	C C	CTCTCTAT others(15): Show CTCTCTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	422	0.0024	22	c.-12 others(33): Show c.-1234_-1233insTCTCTATATATATATATATATA	IFNL2	ENSG00000183709.8	transcript	ENST00000331982.6	protein_coding		1060		chr19	TogoVar
IFT122_chr3_129435224_129525507	129454513	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	356	0.0028	22	c.193 others(39): Show c.193+2538_193+2559dupTGTGTGTGTGTGTGTGTGTGTG	IFT122	ENSG00000163913.14	transcript	ENST00000348417.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
IFT122_chr3_129435224_129525507	129517268	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	356	0.0028	22	c.326 others(39): Show c.3266-188_3266-167dupCACACACACACACACACACACA	IFT122	ENSG00000163913.14	transcript	ENST00000348417.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
IFT140_chr16_1505427_1617072	1507869	T T	TGTGTGAT others(15): Show TGTGTGATGTGTGTCGGCCCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG03927.hp2 HG02965.hp2 HG03927.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0031 a0001c0004 a0003c0031	a0001c0004t0001 a0003c0031t0009 a0001c0004t0001 a0003c0031t0009	a0001c0004t0001g0077 a0003c0031t0009g0140 a0001c0004t0001g0077 a0003c0031t0009g0140	2	334	0.0060	22	c.30 others(33): Show c.3074_*3075insCCCGGGCCGACACACATCACAC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding		2557		chr16	TogoVar
IFT140_chr16_1505427_1617072	1530133	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0194 a0007c0013t0001g0194	1	334	0.0030	22	c.240 others(41): Show c.2400-3359_2400-3338dupAAAAAAAAAAAAAAAAAAAAAA	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	19/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1604274	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03209.hp1 NA19055.hp1 HG01256.hp1 HG03209.hp1 NA19055.hp1	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0001 a0004c0006 a0011c0012 a0001c0001 a0004c0006 a0011c0012	a0001c0001t0002 a0004c0006t0002 a0011c0012t0003 a0001c0001t0002 a0004c0006t0002 a0011c0012t0003	a0001c0001t0002g0205 a0004c0006t0002g0204 a0011c0012t0003g0051 a0001c0001t0002g0205 a0004c0006t0002g0204 a0011c0012t0003g0051	3	334	0.0090	22	c.148 others(39): Show c.148-1705_148-1684dupACACACACACACACACACACAC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	3/30			chr16	TogoVar
IFT20_chr17_28323326_28340472	28333072	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG02040.hp1 others(6): Show HG00544.hp2 HG00609.hp1 HG02040.hp1 HG02165.hp2 HG02970.hp1 HG03831.hp2 NA18951.hp1 NA18994.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0008 a0001c0001t0001g0053 a0001c0001t0001g0054	9	360	0.0250	22	c.-2- others(37): Show c.-2-1107_-2-1086dupGTGTGTGTGTGTGTGTGTGTGT	IFT20	ENSG00000109083.14	transcript	ENST00000395418.8	protein_coding	1/4			chr17	TogoVar
IFT22_chr7_101305914_101326812	101308663	A A	AGGAGCCC others(15): Show AGGAGCCCACGTGGAGCCCACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0172 a0001c0001t0079g0172	1	410	0.0024	22	c.64 others(33): Show c.6470_*6471insACGTGGGCTCCACGTGGGCTCC	IFT22	ENSG00000128581.17	transcript	ENST00000315322.10	protein_coding		2250		chr7	TogoVar
IFT43_chr14_75980763_76088742	75991390	T T	TGTGTGTG others(15): Show TGTGTGTGTGTATATTAACAAGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02723.hp2 others(5): Show HG01243.hp1 HG01884.hp2 HG02723.hp2 HG02886.hp1 HG02895.hp2 HG02965.hp2 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0020 others(5): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0115	8	396	0.0202	22	c.147 others(39): Show c.147+2423_147+2424insATATTAACAAGAGTGTGTGTGT	IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
IFT43_chr14_75980763_76088742	76062917	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	396	0.0025	22	c.295 others(39): Show c.295+3547_295+3568dupAAAAAAAAAAAAAAAAAAAAAA	IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
IFT56_chr7_139128778_139196986	139194198	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0131 a0001c0003t0020g0131	1	330	0.0030	22	c.47 others(33): Show c.4766_*4767insTATATATATATATATATATATG	IFT56	ENSG00000105948.13	transcript	ENST00000464848.5	protein_coding		2213		chr7	TogoVar
IFT80_chr3_160251986_160404225	160381239	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02258.hp2 HG02523.hp2 others(3): Show HG00738.hp1 HG02258.hp2 HG02523.hp2 HG02630.hp2 HG02647.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0002c0002t0002 a0002c0003t0002 a0001c0001t0001 a0002c0002t0002 a0002c0003t0002	a0001c0001t0001g0169 a0001c0001t0001g0191 a0002c0002t0002g0204 others(3): Show a0001c0001t0001g0169 a0001c0001t0001g0191 a0002c0002t0002g0204 a0002c0003t0002g0050 a0002c0003t0002g0051 a0002c0003t0002g0052	6	212	0.0283	22	c.259 others(37): Show c.259+242_259+263dupATATATATATATATATATATAT	IFT80	ENSG00000068885.15	transcript	ENST00000326448.12	protein_coding	3/19			chr3	TogoVar
IFT81_chr12_110119357_110223793	110179773	T T	TATACACA others(15): Show TATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	218	0.0046	22	c.118 others(39): Show c.1189-648_1189-647insTACACACACACACACACACACA	IFT81	ENSG00000122970.16	transcript	ENST00000242591.10	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr12	TogoVar

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