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
IRGC_chr19_43711076_43725021	43724830	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 NA19009.hp1 HG00558.hp1 NA19009.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0001 a0002c0003t0002g0001	2	86	0.0233	32	c.48 others(43): Show c.4880_*4881insATATATATATATATATATATATATACACACAC		IRGC	ENSG00000124449.7	transcript	ENST00000244314.6	protein_coding					4810		chr19	TogoVar
IRGC_chr19_43711076_43725021	43724830	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18969.hp1 NA18946.hp2 NA18969.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0001 a0002c0003t0002g0001	2	86	0.0233	32	c.48 others(43): Show c.4880_*4881insATATATATATATATATATATATATATACACAC		IRGC	ENSG00000124449.7	transcript	ENST00000244314.6	protein_coding					4810		chr19	TogoVar
IRS1_chr2_226726312_226804820	226728076	G G	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01433.hp1 HG01496.hp1 others(24): Show HG01256.hp1 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01952.hp1 HG01952.hp2 HG02056.hp2 HG02080.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02615.hp2 HG02630.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG03486.hp1 HG03486.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp2 NA18985.hp1 NA19064.hp1 NA19068.hp1 NA19240.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0058 a0001c0002t0002 a0001c0002t0005 a0001c0002t0032 a0001c0003t0004 a0001c0003t0029 a0001c0003t0030 a0003c0006t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 others(23): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0126 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0003g0007 a0001c0001t0003g0120 a0001c0001t0003g0162 a0001c0001t0003g0186 a0001c0001t0003g0195 a0001c0001t0003g0203 a0001c0001t0007g0133 a0001c0001t0058g0202 a0001c0002t0002g0206 a0001c0002t0005g0001 a0001c0002t0005g0063 a0001c0002t0005g0066 a0001c0002t0005g0067 a0001c0002t0005g0069 a0001c0002t0032g0071 a0001c0003t0004g0025 a0001c0003t0004g0028 a0001c0003t0029g0042 a0001c0003t0030g0043 a0003c0006t0001g0102	27	28	0.9643	32	c.81 others(43): Show c.8195_*8196insACACACACACACACACACACACACACACACAC		IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding					3235		chr2	TogoVar
IRX6_chr16_55319203_55335756	55325466	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAATAAGGAAAGAAAGAAATAAG	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	437	0.0023	32	c.45+ others(45): Show c.45+349_45+350insAGAAAGAAATAAGGAAAGAAAGAAATAAGGAA		IRX6	ENSG00000159387.8	transcript	ENST00000290552.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
ITFG1_chr16_47149391_47466063	47396522	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	64	0.0156	32	c.656 others(51): Show c.656-20583_656-20582insCACACACACACACACACACACACACA CACACA		ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	6/17						chr16	TogoVar
ITGA1_chr5_52782916_52964209	52911985	A A	ATTTAGTG others(25): Show ATTTAGTGTATCTACTATATATACTATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02818.hp1 NA18522.hp2 HG02055.hp2 HG02818.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0006 a0001c0002t0090 a0001c0004t0088 a0001c0001t0006 a0001c0002t0090 a0001c0004t0088	a0001c0001t0006g0088 a0001c0002t0090g0032 a0001c0004t0088g0163 a0001c0001t0006g0088 a0001c0002t0090g0032 a0001c0004t0088g0163	3	53	0.0566	32	c.185 others(51): Show c.1857+1567_1857+1568insTTAGTGTATCTACTATATATACTATA TATACT		ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding	14/28					INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGA1_chr5_52782916_52964209	52962755	C C	CACACATA others(25): Show CACACATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0162 a0003c0005t0003g0162	1	162	0.0062	32	c.10 others(45): Show c.10304_*10305insACACATATATATATATATATATATATATATAT		ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding					3547		chr5	TogoVar
ITGA3_chr17_50051110_50095481	50085514	A A	ATGAGCTG others(25): Show ATGAGCTGGTTGTGGTGGTGGGCACCTGTAATC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0310	1	400	0.0025	32	c.292 others(51): Show c.2920-2228_2920-2197dupGAGCTGGTTGTGGTGGTGGGCACCTG TAATCT		ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25					INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGA3_chr17_50051110_50095481	50086177	T T	TATATATT others(25): Show TATATATTAGATATTATATATTATACATGTATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG00738.hp1 HG00323.hp2 HG00642.hp2 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0004 a0001c0011t0004 a0001c0001t0004 a0001c0011t0004	a0001c0001t0004g0179 a0001c0011t0004g0133 a0001c0011t0004g0193 a0001c0001t0004g0179 a0001c0011t0004g0133 a0001c0011t0004g0193	3	394	0.0076	32	c.292 others(51): Show c.2920-1561_2920-1560insTAGATATTATATATTATACATGTATA ATATAT		ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25					INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGA4_chr2_181452386_181543940	181492186	G G	GAATAAAC others(25): Show GAATAAACTTTCATATTTGTATATGAATAACTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	366	0.0027	32	c.115 others(51): Show c.1154-1139_1154-1138insAATAAACTTTCATATTTGTATATGAA TAACTT		ITGA4	ENSG00000115232.14	transcript	ENST00000397033.7	protein_coding	10/27						chr2	TogoVar
ITGA6_chr2_172422586_172511459	172506810	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0069 a0002c0005t0003g0069	1	276	0.0036	32	c.25 others(43): Show c.2558_*2559insACACACACACACACACACACACACACACACAC		ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding					352		chr2	TogoVar
ITGA6_chr2_172422586_172511459	172506840	C C	CACACACA others(25): Show CACACACACACACACACACACACACACATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0223 a0001c0002t0002g0223	1	220	0.0045	32	c.25 others(43): Show c.2588_*2589insACACACACACACACACACACACACACATATAT		ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding					382		chr2	TogoVar
ITGA8_chr10_15508954_15724922	15694678	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0030 a0003c0003t0007g0030	1	31	0.0323	32	c.344 others(49): Show c.344-6641_344-6640insATATATATATATATATATATATATATAT ATAT		ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	2/29						chr10	TogoVar
ITGAL_chr16_30467742_30528185	30499707	A A	ATATGTAT others(25): Show ATATGTATATATATATGTGTATATATATATACG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02698.hp1 HG01243.hp2 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0049 a0002c0002t0001g0051 a0002c0002t0001g0049 a0002c0002t0001g0051	2	316	0.0063	32	c.214 others(49): Show c.2145+221_2145+222insGTATATATATATGTGTATATATATATAC GTAT		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(25): Show GTATATATATATGTGTATATATATATACGTATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0264 a0002c0002t0001g0264	1	207	0.0048	32	c.214 others(49): Show c.2145+235_2145+236insGTGTATATATATATACGTATATATATAT ATAT		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(25): Show GTATATATATGTGTATATATATATACGTATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0028 a0002c0002t0001g0019 a0002c0002t0001g0028	2	208	0.0096	32	c.214 others(49): Show c.2145+233_2145+234insGTGTATATATATATACGTATATATATAT ATAT		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(25): Show ATACGTATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0006 a0002c0016t0006	a0002c0016t0006g0233 a0002c0016t0006g0233	1	108	0.0093	32	c.214 others(49): Show c.2145+245_2145+246insACGTATATATATATATATATATATATTT TTTT		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(25): Show ATATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0149 a0001c0005t0004g0149	1	78	0.0128	32	c.-17 others(43): Show c.-1762_-1761insTATATATATATATATATATATATTTTTTTTTT		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding					1671		chr16	TogoVar
ITGAM_chr16_31254975_31337877	31302428	C C	CTTTCTTT others(25): Show CTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0008 a0001c0013t0008	a0001c0013t0008g0173 a0001c0013t0008g0173	1	202	0.0050	32	c.170 others(51): Show c.1707+4476_1707+4477insTCTTTCTTTCTTCTTTCTTTCTTTCT TTCTTT		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(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00733.hp1 HG04204.hp2 others(1): Show HG00438.hp1 HG00733.hp1 HG04204.hp2 NA19080.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0166 a0001c0004t0001g0167 a0001c0004t0001g0168 others(1): Show a0001c0004t0001g0166 a0001c0004t0001g0167 a0001c0004t0001g0168 a0001c0004t0001g0360	4	17	0.2353	32	c.-1+ others(49): Show c.-1+10681_-1+10712dupACACACACACACACACACACACACACAC ACAC		ITGB1	ENSG00000150093.20	transcript	ENST00000302278.8	protein_coding	1/15						chr10	TogoVar
ITGB3BP_chr1_63435770_63528225	63472443	T T	TCCCTCTC others(25): Show TCCCTCTCCCTCTCCCTCTCCCTCTCCCCTCTC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	158	0.0063	32	c.254 others(49): Show c.254+6320_254+6321insGAGAGGGGAGAGGGAGAGGGAGAGGGAG AGGG		ITGB3BP	ENSG00000142856.17	transcript	ENST00000271002.15	protein_coding	4/8						chr1	TogoVar
ITGB3_chr17_47248827_47318743	47272679	T T	TTCTTTTT others(25): Show TTCTTTTTTTTTCTTTCTTTCTTTCCTTCTTTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0227 a0001c0002t0009g0227	1	365	0.0027	32	c.80- others(47): Show c.80-1739_80-1738insCTTTTTTTTTCTTTCTTTCTTTCCTTCTTT CT		ITGB3	ENSG00000259207.10	transcript	ENST00000559488.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGB5_chr3_124756948_124892365	124810908	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0311 a0001c0001t0014g0311	1	298	0.0034	32	c.112 others(51): Show c.1129-1753_1129-1752insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA		ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	8/14						chr3	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TATATATA others(25): Show TATATATATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0158 a0001c0003t0001g0158	1	6	0.1667	32	c.101 others(51): Show c.1015+6589_1015+6590insTATATATACACACACACACACACACA CACACA		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(25): Show TATATATGTATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	6	0.1667	32	c.101 others(51): Show c.1015+6589_1015+6590insTATATGTATATATATATATACACACA CACACA		ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101604983	C C	CATGTGTA others(25): Show CATGTGTATATGTATATATACATATATGCGTAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	303	0.0033	32	c.101 others(51): Show c.1015+6710_1015+6741dupTGCGTATATGTGTATATGTATATATA CATATA		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(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18612.hp2 NA18941.hp2 HG01175.hp1 NA18612.hp2 NA18941.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0001 a0001c0003t0001 a0001c0006t0001	a0001c0003t0001g0099 a0001c0003t0001g0184 a0001c0006t0001g0276 a0001c0003t0001g0099 a0001c0003t0001g0184 a0001c0006t0001g0276	3	5	0.6000	32	c.101 others(51): Show c.1016-3352_1016-3351insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA		ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr13	TogoVar
ITIH5_chr10_7554270_7671966	7566770	G G	GGAGAAGG others(25): Show GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0233 a0003c0002t0001g0233	1	312	0.0032	32	c.215 others(49): Show c.2150-364_2150-363insTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTC		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13						chr10	TogoVar
ITIH5_chr10_7554270_7671966	7624834	C C	CATGTATA others(25): Show CATGTATATACACATATATATATGTGTATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02486.hp2 HG02630.hp2 others(4): Show HG01109.hp2 HG02486.hp2 HG02630.hp2 HG02886.hp1 HG03225.hp1 HG03486.hp1 HG03579.hp2	a0001 a0003 a0008 others(3): Show a0001 a0003 a0008 a0027 a0029 a0031	a0001c0032 a0001c0054 a0003c0055 others(4): Show a0001c0032 a0001c0054 a0003c0055 a0008c0056 a0027c0052 a0029c0053 a0031c0033	a0001c0032t0001 a0001c0054t0001 a0003c0055t0040 others(4): Show a0001c0032t0001 a0001c0054t0001 a0003c0055t0040 a0008c0056t0038 a0027c0052t0060 a0029c0053t0013 a0031c0033t0003	a0001c0032t0001g0277 a0001c0054t0001g0009 a0003c0055t0040g0006 others(4): Show a0001c0032t0001g0277 a0001c0054t0001g0009 a0003c0055t0040g0006 a0008c0056t0038g0256 a0027c0052t0060g0014 a0029c0053t0013g0007 a0031c0033t0003g0141	7	339	0.0206	32	c.653 others(49): Show c.653-7553_653-7552insATATATACACATATATATATGTGTATAT ACAT		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	5/13						chr10	TogoVar
ITIH5_chr10_7554270_7671966	7628812	T T	TGTCCATG others(25): Show TGTCCATGTTGTAGCGTGTGTCCCTGTTGTAGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0015 a0002c0004t0001g0016 a0002c0004t0001g0015 a0002c0004t0001g0016	2	340	0.0059	32	c.652 others(49): Show c.652+8415_652+8416insGCTACAACAGGGACACACGCTACAACAT GGAC		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	5/13						chr10	TogoVar
ITPK1_chr14_92931914_93120925	92980790	T T	TTCAGCCT others(25): Show TTCAGCCTCCCAAGTTCAAGCAATTCTCCTGCC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	242	0.0041	32	c.364 others(51): Show c.364+13058_364+13089dupGGCAGGAGAATTGCTTGAACTTGGGA GGCTGA		ITPK1	ENSG00000100605.17	transcript	ENST00000267615.11	protein_coding	5/10						chr14	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CCATATAT others(25): Show CCATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0013 a0003c0005t0013	a0003c0005t0013g0235 a0003c0005t0013g0235	1	59	0.0169	32	c.-98 others(49): Show c.-98+5500_-98+5501insCATATATATATATATATATATATATATA TATA		ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14						chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCC others(25): Show CTCTCTCCATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA19082.hp2 NA18969.hp1 NA19082.hp2	a0003 a0012 a0003 a0012	a0003c0005 a0012c0016 a0003c0005 a0012c0016	a0003c0005t0003 a0012c0016t0004 a0003c0005t0003 a0012c0016t0004	a0003c0005t0003g0176 a0012c0016t0004g0199 a0003c0005t0003g0176 a0012c0016t0004g0199	2	60	0.0333	32	c.-98 others(49): Show c.-98+5501_-98+5502insCTCTCCATATATATATATATATATATAT ATAT		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(25): Show CTCTCTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0026 a0026	a0026c0048 a0026c0048	a0026c0048t0001 a0026c0048t0001	a0026c0048t0001g0005 a0026c0048t0001g0005	1	59	0.0169	32	c.-98 others(49): Show c.-98+5501_-98+5502insCTCTCTATATATATATATATATATATAT ATAT		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(25): Show CTCTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19070.hp2 NA19054.hp1 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0002 a0001c0002t0001 a0002c0001t0002	a0001c0002t0001g0115 a0002c0001t0002g0018 a0001c0002t0001g0115 a0002c0001t0002g0018	2	60	0.0333	32	c.-98 others(49): Show c.-98+5501_-98+5502insCTCTCTCTATATATATATATATATATAT ATAT		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(25): Show CTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02293.hp2 NA18950.hp1 others(1): Show HG00558.hp2 HG02293.hp2 NA18950.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0001g0092 a0001c0002t0002g0102 a0001c0003t0001g0004 others(1): Show a0001c0002t0001g0092 a0001c0002t0002g0102 a0001c0003t0001g0004 a0001c0003t0001g0013	4	62	0.0645	32	c.-98 others(49): Show c.-98+5501_-98+5502insCTCTCTCTCTATATATATATATATATAT ATAT		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(25): Show CTCTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA19085.hp2 HG01981.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0093 a0001c0002t0002g0110 a0001c0002t0001g0093 a0001c0002t0002g0110	2	60	0.0333	32	c.-98 others(49): Show c.-98+5501_-98+5502insCTCTCTCTCTCTATATATATATATATAT ATAT		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(25): Show CTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0053 a0001c0002t0002g0053	1	59	0.0169	32	c.-98 others(49): Show c.-98+5501_-98+5502insCTCTCTCTCTCTCTATATATATATATAT ATAT		ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
ITSN2_chr2_24197864_24365536	24337315	A A	AATATATA others(25): Show AATATATATATATATACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0027 a0004c0004t0001g0027	1	76	0.0132	32	c.-33 others(49): Show c.-33-9201_-33-9200insATATATATATATATATGTATATATATAT ATAT		ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	1/39						chr2	TogoVar
IVL_chr1_152903546_152916886	152910329	C C	CAGCAGGA others(25): Show CAGCAGGAGGGGCCAGCTGGAGCTCCCAGAGCA	frameshift_variant frameshift_variant	HIGH	HG02015.hp1 HG02015.hp1	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0006 a0018c0023t0006	a0018c0023t0006g0016 a0018c0023t0006g0016	1	424	0.0024	32	c.544 others(39): Show c.544_545insCAGCTGGAGCTCCCAGAGCAAGCAGGAGGGGC	p.Gln others(5): Show p.Gln182fs	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	608/2152	545/1758	182/585		INFO_REALIGN_3_PRIME	chr1	TogoVar
JAK1_chr1_64828229_64971549	64913641	G G	GAGGAAGG others(25): Show GAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18957.hp1 NA18995.hp2 HG02647.hp1 NA18957.hp1 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0245 a0001c0003t0001g0229 a0001c0003t0001g0289 a0001c0002t0002g0245 a0001c0003t0001g0229 a0001c0003t0001g0289	3	234	0.0128	32	c.-77 others(51): Show c.-77-27301_-77-27300insTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCT		JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24						chr1	TogoVar
JAK1_chr1_64828229_64971549	64913655	A A	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	221	0.0045	32	c.-77 others(51): Show c.-77-27315_-77-27314insCTTCCTTCCTTCTTTCCTTCCTTCCT TCCTTC		JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24						chr1	TogoVar
JAK1_chr1_64828229_64971549	64913686	A A	AAGAAGGA others(25): Show AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0108 a0001c0008t0001g0108	1	318	0.0031	32	c.-77 others(51): Show c.-77-27346_-77-27345insCTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCT		JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24						chr1	TogoVar
JAK1_chr1_64828229_64971549	64913705	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02922.hp2 HG03927.hp2 others(1): Show HG00733.hp2 HG02922.hp2 HG03927.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0002t0002 a0001c0010t0002 a0001c0001t0001 a0001c0002t0002 a0001c0010t0002	a0001c0001t0001g0208 a0001c0002t0002g0020 a0001c0002t0002g0057 others(1): Show a0001c0001t0001g0208 a0001c0002t0002g0020 a0001c0002t0002g0057 a0001c0010t0002g0207	4	131	0.0305	32	c.-77 others(51): Show c.-77-27365_-77-27364insCCCTTCTTTCCTTCCTTCCTTCCTTC CTTCCT		JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24						chr1	TogoVar
JAK1_chr1_64828229_64971549	64913707	G G	GGAAGGAA others(25): Show GGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	228	0.0044	32	c.-77 others(51): Show c.-77-27367_-77-27366insTTTCCTTCCTTCCTTCCTTCTTTCCT TCCTTC		JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24						chr1	TogoVar
JAKMIP1_chr4_6021199_6205549	6080984	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	18	0.0556	32	c.110 others(49): Show c.1101+624_1101+625insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT		JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	6/20						chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6098546	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	193	0.0052	32	c.624 others(49): Show c.624+6895_624+6926dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT		JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	3/20						chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6183478	C C	CAATAAAT others(25): Show CAATAAATAAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	4	0.2500	32	c.-14 others(53): Show c.-148+16774_-148+16775insTATTTATTTATTTATTTATTTATT TATTTATT		JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20						chr4	TogoVar
JAKMIP3_chr10_132060946_132189858	132186851	C C	CCCTATCG others(25): Show CCCTATCGGGGGCGGGCCCTATCGGGGGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 NA19081.hp1 NA19081.hp2 HG02027.hp2 NA19081.hp1 NA19081.hp2	a0001 a0003 a0001 a0003	a0001c0015 a0003c0003 a0003c0021 a0001c0015 a0003c0003 a0003c0021	a0001c0015t0001 a0003c0003t0001 a0003c0021t0001 a0001c0015t0001 a0003c0003t0001 a0003c0021t0001	a0001c0015t0001g0030 a0003c0003t0001g0077 a0003c0021t0001g0032 a0001c0015t0001g0030 a0003c0003t0001g0077 a0003c0021t0001g0032	3	70	0.0429	32	c.55 others(43): Show c.5598_*5599insCCTATCGGGGGCGGGCCCTATCGGGGGCGGGG		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding					1994		chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132186856	T T	TCGGGGGC others(25): Show TCGGGGGCGGGGCCTATCGGGGGCGGGGCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01256.hp2 HG03491.hp1 others(2): Show HG01175.hp2 HG01256.hp2 HG03491.hp1 HG03834.hp2 HG04228.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0013 a0002c0008 a0004c0011 others(1): Show a0001c0013 a0002c0008 a0004c0011 a0004c0014	a0001c0013t0015 a0002c0008t0017 a0004c0011t0001 others(1): Show a0001c0013t0015 a0002c0008t0017 a0004c0011t0001 a0004c0014t0001	a0001c0013t0015g0148 a0002c0008t0017g0121 a0004c0011t0001g0135 others(2): Show a0001c0013t0015g0148 a0002c0008t0017g0121 a0004c0011t0001g0135 a0004c0014t0001g0041 a0004c0014t0001g0074	5	146	0.0342	32	c.56 others(43): Show c.5603_*5604insCGGGGGCGGGGCCTATCGGGGGCGGGGCCTGC		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding					1999		chr10	TogoVar

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