Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ITGA8_chr10_15508954_15724922	15697046	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0039 a0004c0024t0039	a0004c0024t0039g0212 a0004c0024t0039g0212	1	220	0.0046	30	c.344 others(47): Show c.344-9009_344-9008insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT		ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	2/29						chr10	TogoVar
ITGAE_chr17_3709628_3806188	3730454	A A	AAAAAAAA others(23): Show AAAAAAAAATAAAATAAAAAAATAAATAAAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	302	0.0033	30	c.283 others(47): Show c.2834+649_2834+650insATTTATTTATTTTTTTATTTTATTTTTT TT		ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	23/30						chr17	TogoVar
ITGAE_chr17_3709628_3806188	3796170	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0275 a0005c0005t0001g0275	1	302	0.0033	30	c.34+ others(45): Show c.34+4940_34+4941insACACACACACACACACACACACACACACAC		ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	1/30						chr17	TogoVar
ITGAL_chr16_30467742_30528185	30493245	C C	CATTTTAT others(23): Show CATTTTATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0299 a0001c0005t0004g0299	1	318	0.0031	30	c.121 others(47): Show c.1214-957_1214-928dupTATTTTATTTTATTTTATTTTATTTTAT TT		ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	11/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499709	A A	ATGTATAT others(23): Show ATGTATATATATATGTGTATATATATATACG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	318	0.0031	30	c.214 others(47): Show c.2145+221_2145+222insGTATATATATATGTGTATATATATATAC GT		ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499711	A A	ATATGTAT others(23): Show ATATGTATATATATGTGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	318	0.0031	30	c.214 others(47): Show c.2145+223_2145+224insATGTATATATATGTGTATATATATATAT GT		ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499713	G G	GTATATAT others(23): Show GTATATATATATGTGTATATATATATACGTA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	318	0.0031	30	c.214 others(47): Show c.2145+235_2145+236insGTGTATATATATATACGTATATATATAT AT		ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499713	G G	GTATATAT others(23): Show GTATATATATGTGTATATATATATATGTGTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG03490.hp1 HG00280.hp2 HG00639.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0215 a0001c0001t0001g0281 a0001c0001t0001g0112 a0001c0001t0001g0215 a0001c0001t0001g0281	3	318	0.0094	30	c.214 others(47): Show c.2145+233_2145+234insGTGTATATATATATATGTGTATATATAT AT		ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499733	A A	ATACATAT others(23): Show ATACATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0315 a0002c0003t0001g0315	1	318	0.0031	30	c.214 others(47): Show c.2145+245_2145+246insACATATATATATATATATATATTTTTTT TT		ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499733	A A	ATACGTAT others(23): Show ATACGTATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0272 a0002c0008t0001g0272	1	318	0.0031	30	c.214 others(47): Show c.2145+245_2145+246insACGTATATATATATATATATATATTTTT TT		ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499733	A A	ATATGTAT others(23): Show ATATGTATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0229 a0002c0008t0001g0229	1	318	0.0031	30	c.214 others(47): Show c.2145+245_2145+246insATGTATATATATATATATATTTTTTTTT TT		ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31258303	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0004 a0007c0012t0004	a0007c0012t0004g0164 a0007c0012t0004g0164	1	244	0.0041	30	c.-17 others(41): Show c.-1762_-1761insTATATATATATATATATATATATTTTTTTT		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding					1671		chr16	TogoVar
ITGAM_chr16_31254975_31337877	31258303	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0159 a0001c0005t0004g0159	1	244	0.0041	30	c.-17 others(41): Show c.-1762_-1761insTATATATATATATATATATATTTTTTTTTT		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding					1671		chr16	TogoVar
ITGAM_chr16_31254975_31337877	31270699	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0057 a0001c0002t0002g0055 a0001c0002t0002g0057	2	244	0.0082	30	c.428 others(45): Show c.428-254_428-253insGTATATATATATATATATATATATATATAT		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	5/29					INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31302396	T T	TTTCTTTC others(23): Show TTTCTTTCTTTCTTTCTTTCTTTCTTCTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03098.hp1 NA20752.hp2 HG00099.hp1 HG03098.hp1 NA20752.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0036 a0003c0004t0005g0051 a0003c0004t0005g0079 a0003c0004t0005g0036 a0003c0004t0005g0051 a0003c0004t0005g0079	3	244	0.0123	30	c.170 others(49): Show c.1707+4444_1707+4445insCTTTCTTTCTTTCTTTCTTTCTTCTT TCTT		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	14/29					INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGB1_chr10_32895318_32963230	32947432	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG04199.hp2 NA18949.hp2 others(1): Show HG02735.hp1 HG04199.hp2 NA18949.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0001 a0001c0001t0003 a0001c0004t0001	a0001c0001t0003g0170 a0001c0004t0001g0171 a0001c0004t0001g0172 others(1): Show a0001c0001t0003g0170 a0001c0004t0001g0171 a0001c0004t0001g0172 a0001c0004t0001g0365	4	424	0.0094	30	c.-1+ others(47): Show c.-1+10683_-1+10712dupACACACACACACACACACACACACACAC AC		ITGB1	ENSG00000150093.20	transcript	ENST00000302278.8	protein_coding	1/15						chr10	TogoVar
ITGB3_chr17_47248827_47318743	47300346	C C	CGCGCGCG others(23): Show CGCGCGCGCGCGTGCGTGCATGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0228 a0001c0002t0009g0228	1	370	0.0027	30	c.191 others(47): Show c.1914-131_1914-130insCGCGCGCGCGTGCGTGCATGTGTGTGTG TG		ITGB3	ENSG00000259207.10	transcript	ENST00000559488.7	protein_coding	11/14					INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGB5_chr3_124756948_124892365	124800610	G G	GCCTGATA others(23): Show GCCTGATAACCAGAGAATGTTCTGTCAGATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0316 a0001c0002t0005g0316	1	352	0.0028	30	c.126 others(49): Show c.1264-3794_1264-3793insAATCTGACAGAACATTCTCTGGTTAT CAGG		ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	9/14						chr3	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TATATATA others(23): Show TATATATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0163 a0001c0003t0001g0163	1	306	0.0033	30	c.101 others(49): Show c.1015+6589_1015+6590insTATATACACACACACACACACACACA CACA		ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TATATATA others(23): Show TATATATATATGTATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0056 a0001c0003t0001g0056	1	306	0.0033	30	c.101 others(49): Show c.1015+6589_1015+6590insTATATATATGTATATATATATATACA CACA		ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TATATATG others(23): Show TATATATGTATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0186 a0001c0005t0001g0186	1	306	0.0033	30	c.101 others(49): Show c.1015+6589_1015+6590insTATATGTATATATATATATACACACA CACA		ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101606174	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	306	0.0033	30	c.101 others(49): Show c.1015+7893_1015+7894insTATATATATATATATATATATATATA TATA		ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101689211	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02818.hp1 NA18747.hp1 others(5): Show HG00408.hp2 HG02818.hp1 NA18747.hp1 NA18980.hp2 NA18986.hp1 NA19060.hp1 NA19068.hp2 NA19088.hp1	a0001 a0006 a0001 a0006	a0001c0003 a0006c0017 a0001c0003 a0006c0017	a0001c0003t0001 a0006c0017t0001 a0001c0003t0001 a0006c0017t0001	a0001c0003t0001g0002 a0001c0003t0001g0014 a0001c0003t0001g0056 others(4): Show a0001c0003t0001g0002 a0001c0003t0001g0014 a0001c0003t0001g0056 a0001c0003t0001g0095 a0001c0003t0001g0096 a0001c0003t0001g0100 a0006c0017t0001g0088	8	306	0.0261	30	c.101 others(49): Show c.1016-3352_1016-3351insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr13	TogoVar
ITIH2_chr10_7698316_7754520	7737642	A A	AATATTCT others(23): Show AATATTCTATATATTCTATAGAATATTCTAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02818.hp1 HG02145.hp1 HG02818.hp1	a0007 a0007	a0007c0010 a0007c0015 a0007c0010 a0007c0015	a0007c0010t0001 a0007c0015t0001 a0007c0010t0001 a0007c0015t0001	a0007c0010t0001g0259 a0007c0015t0001g0016 a0007c0010t0001g0259 a0007c0015t0001g0016	2	380	0.0053	30	c.195 others(47): Show c.1958-968_1958-967insATTCTATAGAATATTCTATATATTCTAT AT		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7753812	G G	GCCATCAT others(23): Show GCCATCATCCTATTAGTATTTCTGCTTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0286 a0001c0002t0001g0286	1	380	0.0026	30	c.44 others(41): Show c.4478_*4479insCCATCATCCTATTAGTATTTCTGCTTCTGC		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding					4293		chr10	TogoVar
ITIH5_chr10_7554270_7671966	7624807	A A	ATATATAC others(23): Show ATATATACACATATATATGTGTATATACATG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0013 a0013	a0013c0083 a0013c0083	a0013c0083t0003 a0013c0083t0003	a0013c0083t0003g0292 a0013c0083t0003g0292	1	342	0.0029	30	c.653 others(47): Show c.653-7555_653-7526dupCATGTATATACACATATATATGTGTATA TA		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	5/13						chr10	TogoVar
ITIH5_chr10_7554270_7671966	7624857	G G	GTATATAT others(23): Show GTATATATATGTATATACACATATATATGTA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	342	0.0029	30	c.653 others(47): Show c.653-7576_653-7575insTACATATATATGTGTATATACATATATA TA		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	5/13						chr10	TogoVar
ITIH5_chr10_7554270_7671966	7644863	C C	CATATATA others(23): Show CATATATATATCACATATATATATCACATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0259 a0002c0004t0003g0259	1	342	0.0029	30	c.136 others(47): Show c.136-2774_136-2773insATATGTGATATATATATGTGATATATAT AT		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	2/13						chr10	TogoVar
ITK_chr5_157175840_157260185	157233963	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	348	0.0029	30	c.768 others(47): Show c.768+1570_768+1571insATATATATATATATATATATATATTTTT TT		ITK	ENSG00000113263.14	transcript	ENST00000422843.8	protein_coding	8/16					INFO_REALIGN_3_PRIME	chr5	TogoVar
ITPR1_chr3_4488348_4852506	4609089	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0049 a0001c0040t0001g0049	1	176	0.0057	30	c.164 others(49): Show c.164-18673_164-18672insTATATATATATATATATATATATACA CACA		ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61					INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR2_chr12_26330352_26838194	26462154	C C	CTTTTGTT others(23): Show CTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG02055.hp1 HG02280.hp1	a0003 a0007 a0003 a0007	a0003c0032 a0007c0036 a0003c0032 a0007c0036	a0003c0032t0009 a0007c0036t0015 a0003c0032t0009 a0007c0036t0015	a0003c0032t0009g0049 a0007c0036t0015g0101 a0003c0032t0009g0049 a0007c0036t0015g0101	2	142	0.0141	30	c.634 others(51): Show c.6342+13141_6342+13142insCAAAACAAAACAAAACAAAACAAA ACAAAA		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	45/56						chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516270	A A	AGGAAAGG others(23): Show AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0134 a0001c0001t0052g0134	1	142	0.0070	30	c.507 others(51): Show c.5074-21011_5074-21010insCTTCCTTTCCTTTCCTTTCCTTTC CTTTCC		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56						chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516270	A A	AGGAAAGG others(23): Show AGGAAAGGAAAGGAAAGGAAAGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0037 a0001c0008t0037	a0001c0008t0037g0031 a0001c0008t0037g0031	1	142	0.0070	30	c.507 others(51): Show c.5074-21011_5074-21010insCTTCCCTTCCTTTCCTTTCCTTTC CTTTCC		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56						chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516270	A A	AGGAAAGG others(23): Show AGGAAAGGAAAGGAAAGGAAGGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0019 a0002c0023t0019	a0002c0023t0019g0131 a0002c0023t0019g0131	1	142	0.0070	30	c.507 others(51): Show c.5074-21011_5074-21010insCTTCCTTTCCCTTCCTTTCCTTTC CTTTCC		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56						chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516310	A A	AGGAAAGG others(23): Show AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01496.hp2 HG01168.hp1 HG01496.hp2	a0001 a0001	a0001c0008 a0001c0028 a0001c0008 a0001c0028	a0001c0008t0002 a0001c0028t0010 a0001c0008t0002 a0001c0028t0010	a0001c0008t0002g0097 a0001c0028t0010g0125 a0001c0008t0002g0097 a0001c0028t0010g0125	2	142	0.0141	30	c.507 others(51): Show c.5074-21051_5074-21050insCTTCCTTTCCTTTCCTTTCCTTTC CTTTCC		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56						chr12	TogoVar
ITPR2_chr12_26330352_26838194	26565903	G G	GGAGGGGA others(23): Show GGAGGGGAGGAGAGGAGAGGGGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02451.hp2 HG03041.hp1 HG00639.hp2 HG02451.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0025 a0001c0001 a0001c0005 a0001c0025	a0001c0001t0017 a0001c0005t0016 a0001c0025t0051 a0001c0001t0017 a0001c0005t0016 a0001c0025t0051	a0001c0001t0017g0102 a0001c0005t0016g0025 a0001c0025t0051g0133 a0001c0001t0017g0102 a0001c0005t0016g0025 a0001c0025t0051g0133	3	142	0.0211	30	c.463 others(49): Show c.4631-3981_4631-3952dupTCCTCTCCTCCCCTCTCCTCTCCTCC CCTC		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56						chr12	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTATAT others(23): Show CTCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0028	1	312	0.0032	30	c.-98 others(47): Show c.-98+5501_-98+5502insCTATATATATATATATATATATATATAT AT		ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTAT others(23): Show CTCTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0019 a0019	a0019c0051 a0019c0051	a0019c0051t0001 a0019c0051t0001	a0019c0051t0001g0011 a0019c0051t0001g0011	1	312	0.0032	30	c.-98 others(47): Show c.-98+5501_-98+5502insCTCTATATATATATATATATATATATAT AT		ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCC others(23): Show CTCTCTCCATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01258.hp1 HG02074.hp1 others(5): Show HG00280.hp1 HG01258.hp1 HG02074.hp1 HG02083.hp2 HG02132.hp1 NA18948.hp2 NA18975.hp1 NA18978.hp1	a0002 a0003 a0012 others(1): Show a0002 a0003 a0012 a0022	a0002c0001 a0003c0005 a0003c0007 others(2): Show a0002c0001 a0003c0005 a0003c0007 a0012c0016 a0022c0031	a0002c0001t0002 a0003c0005t0003 a0003c0007t0003 others(3): Show a0002c0001t0002 a0003c0005t0003 a0003c0007t0003 a0003c0007t0027 a0012c0016t0030 a0022c0031t0003	a0002c0001t0002g0203 a0002c0001t0002g0218 a0003c0005t0003g0200 others(5): Show a0002c0001t0002g0203 a0002c0001t0002g0218 a0003c0005t0003g0200 a0003c0005t0003g0205 a0003c0007t0003g0204 a0003c0007t0027g0202 a0012c0016t0030g0199 a0022c0031t0003g0201	8	312	0.0256	30	c.-98 others(47): Show c.-98+5501_-98+5502insCTCTCCATATATATATATATATATATAT AT		ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(23): Show CTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01975.hp1 HG03017.hp1 HG01943.hp1 HG01975.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0105 a0001c0002t0002g0106 a0001c0002t0002g0168 a0001c0002t0001g0105 a0001c0002t0002g0106 a0001c0002t0002g0168	3	312	0.0096	30	c.-98 others(47): Show c.-98+5501_-98+5502insCTCTCTATATATATATATATATATATAT AT		ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(23): Show CTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0109 a0001c0002t0002g0109	1	312	0.0032	30	c.-98 others(47): Show c.-98+5501_-98+5502insCTCTCTCTATATATATATATATATATAT AT		ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(23): Show CTCTCTCTCTCCATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0172 a0003c0005t0003g0172	1	312	0.0032	30	c.-98 others(47): Show c.-98+5501_-98+5502insCTCTCTCTCCATATATATATATATATAT AT		ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0122 a0001c0002t0002g0122	1	312	0.0032	30	c.-98 others(47): Show c.-98+5501_-98+5502insCTCTCTCTCTCTCTCTATATATATATAT AT		ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0075 a0001c0003t0001g0075	1	312	0.0032	30	c.-98 others(47): Show c.-98+5501_-98+5502insCTCTCTCTCTCTCTCTCTATATATATAT AT		ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0124 a0001c0002t0012g0124	1	312	0.0032	30	c.-98 others(47): Show c.-98+5501_-98+5502insCTCTCTCTCTCTCTCTCTCTATATATAT AT		ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31599690	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0006 a0003c0021t0006	a0003c0021t0006g0225 a0003c0021t0006g0225	1	312	0.0032	30	c.122 others(51): Show c.1228+16502_1228+16503insCTCTCTCTCTCTCTCTCTCTCTCT CTTTCT		ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
ITSN1_chr21_33637501_33904861	33690790	C C	CATATATA others(23): Show CATATATATATATATATATATATATATACAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0154 a0001c0001t0018g0154	1	242	0.0041	30	c.-32 others(49): Show c.-32-27983_-32-27982insATACATATATATATATATATATATAT ATAT		ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39					INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN2_chr2_24197864_24365536	24337315	A A	AATATATA others(23): Show AATATATATATATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0025 a0004c0004t0001g0025	1	224	0.0045	30	c.-33 others(47): Show c.-33-9201_-33-9200insATATATATATATATGTATATATATATAT AT		ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	1/39						chr2	TogoVar
IVL_chr1_152903546_152916886	152910325	G G	GGAGCAGC others(23): Show GGAGCAGCAGGAGGGGCAGCTGGAGCTCCCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00738.hp2 HG01361.hp2 HG01433.hp1 others(31): Show HG00738.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp2 NA18522.hp2 NA19240.hp2	a0004 a0016 a0026 others(1): Show a0004 a0016 a0026 a0030	a0004c0004 a0004c0015 a0004c0040 others(3): Show a0004c0004 a0004c0015 a0004c0040 a0016c0022 a0026c0031 a0030c0039	a0004c0004t0002 a0004c0015t0002 a0004c0015t0004 others(4): Show a0004c0004t0002 a0004c0015t0002 a0004c0015t0004 a0004c0040t0002 a0016c0022t0001 a0026c0031t0001 a0030c0039t0002	a0004c0004t0002g0003 a0004c0004t0002g0004 a0004c0004t0002g0010 others(6): Show a0004c0004t0002g0003 a0004c0004t0002g0004 a0004c0004t0002g0010 a0004c0015t0002g0003 a0004c0015t0004g0003 a0004c0040t0002g0003 a0016c0022t0001g0001 a0026c0031t0001g0001 a0030c0039t0002g0003	34	426	0.0798	30	c.679 others(37): Show c.679_708dupGAGCAGCAGGAGGGGCAGCTGGAGCTCCCA	p.Glu others(13): Show p.Glu227_Pro236dup	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	772/2152	709/1758	237/585		INFO_REALIGN_3_PRIME	chr1	TogoVar
IVL_chr1_152903546_152916886	152910325	G G	GGAGCAGG others(23): Show GGAGCAGGAGGAGGGGCAGCTGGAGCTCCCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02809.hp2 HG03516.hp2 HG02809.hp2 HG03516.hp2	a0019 a0019	a0019c0026 a0019c0026	a0019c0026t0002 a0019c0026t0002	a0019c0026t0002g0003 a0019c0026t0002g0003	2	426	0.0047	30	c.534 others(37): Show c.534_535insGAGGAGGGGCAGCTGGAGCTCCCAGAGCAG	p.Gln others(43): Show p.Gln178_Gln179insGluGluGlyGlnLeuGluLeuProGluGln	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	598/2152	535/1758	179/585		INFO_REALIGN_3_PRIME	chr1	TogoVar

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