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
IRX6_chr16_55319203_55335756	55325532	A A	AAGGAAGG others(27): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0018 a0003c0003t0003g0018	1	432	0.0023	34	c.45+ others(47): Show c.45+396_45+397insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AG	IRX6	ENSG00000159387.8	transcript	ENST00000290552.8	protein_coding	1/5			chr16	TogoVar
IRX6_chr16_55319203_55335756	55325563	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	126	0.0079	34	c.45+ others(47): Show c.45+434_45+435insAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAA GA	IRX6	ENSG00000159387.8	transcript	ENST00000290552.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITFG1_chr16_47149391_47466063	47315768	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0082 a0001c0002t0002g0082	1	75	0.0133	34	c.803 others(51): Show c.803-1946_803-1945insATATATATATATATATATATATATATAT ATATAT	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	8/17			chr16	TogoVar
ITGA11_chr15_68291532_68437163	68400728	A A	AAATATTA others(27): Show AAATATTATATTATATATTATATAATAAATATTAT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0024 a0005c0015t0024	a0005c0015t0024g0204 a0005c0015t0024g0204	1	132	0.0076	34	c.164 others(51): Show c.164+2189_164+2190insATAATATTTATTATATAATATATAATAT AATATT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA1_chr5_52782916_52964209	52962755	C C	CACACATA others(27): Show CACACATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0229 a0003c0005t0003g0229	1	162	0.0062	34	c.10 others(47): Show c.10304_*10305insACACATATATATATATATATATATATATATAT AT	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding		3547		chr5	TogoVar
ITGA3_chr17_50051110_50095481	50086211	T T	TATATATA others(27): Show TATATATATTAGATTATATATATTATACATGTATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18943.hp2 NA19068.hp1 HG00673.hp1 NA18943.hp2 NA19068.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0002c0002 a0003c0006 a0001c0005 a0002c0002 a0003c0006	a0001c0005t0003 a0002c0002t0003 a0003c0006t0003 a0001c0005t0003 a0002c0002t0003 a0003c0006t0003	a0001c0005t0003g0339 a0002c0002t0003g0115 a0003c0006t0003g0082 a0001c0005t0003g0339 a0002c0002t0003g0115 a0003c0006t0003g0082	3	379	0.0079	34	c.292 others(53): Show c.2920-1524_2920-1491dupTAGATTATATATATTATACATGTATA ATATATAT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGA8_chr10_15508954_15724922	15531686	C C	CCAGCACT others(27): Show CCAGCACTTTGGGTTCTTAGAACTACAGAAACTCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0009 a0004c0004t0009	a0004c0004t0009g0043 a0004c0004t0009g0043	1	218	0.0046	34	c.288 others(51): Show c.2881-536_2881-535insAGAGTTTCTGTAGTTCTAAGAACCCAAA GTGCTG	ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	27/29			chr10	TogoVar
ITGA8_chr10_15508954_15724922	15694363	T T	TAATATAT others(27): Show TAATATATCATATATGATAATATATCACATATCAG	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	218	0.0046	34	c.344 others(51): Show c.344-6359_344-6326dupCTGATATGTGATATATTATCATATATGA TATATT	ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	2/29			chr10	TogoVar
ITGA8_chr10_15508954_15724922	15694678	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0009 a0003c0003t0006g0009	1	31	0.0323	34	c.344 others(51): Show c.344-6641_344-6640insATATATATATATATATATATATATATAT ATATAT	ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	2/29			chr10	TogoVar
ITGAD_chr16_31388335_31431505	31427922	G G	GCGCCCCG others(27): Show GCGCCCCGCGCGCACCCCCCCCCCCGCAGCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0312 a0001c0001t0002g0312	1	21	0.0476	34	c.17 others(45): Show c.1794_*1795insCGCCCCGCGCGCACCCCCCCCCCCGCAGCACCCC	ITGAD	ENSG00000156886.12	transcript	ENST00000389202.3	protein_coding		1418		chr16	TogoVar
ITGAE_chr17_3709628_3806188	3711370	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0001 a0006c0021t0001	a0006c0021t0001g0174 a0006c0021t0001g0174	1	42	0.0238	34	c.34 others(45): Show c.3476_*3477insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding		3257		chr17	TogoVar
ITGAE_chr17_3709628_3806188	3730454	A A	AAAAAAAA others(27): Show AAAAAAAAATAAAATAAAAAAAAAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0014 a0014	a0014c0027 a0014c0027	a0014c0027t0001 a0014c0027t0001	a0014c0027t0001g0049 a0014c0027t0001g0051 a0014c0027t0001g0049 a0014c0027t0001g0051	2	216	0.0093	34	c.283 others(51): Show c.2834+649_2834+650insATTTATTTATTTTTTTTTTTATTTTATT TTTTTT	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	23/30			chr17	TogoVar
ITGAL_chr16_30467742_30528185	30499713	G G	GTATATAT others(27): Show GTATATATATATGTGTATATATATATACGTATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00558.hp2 others(79): Show HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00673.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02615.hp2 HG02647.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03710.hp2 NA18906.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp1 NA18952.hp1 NA18960.hp1 NA18968.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp2 NA18995.hp2 NA18999.hp1 NA19010.hp2 NA19043.hp2 NA19057.hp1 NA19064.hp2 NA19074.hp1 NA19074.hp2 NA19090.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0011	a0001c0001 a0001c0005 a0001c0015 others(4): Show a0001c0001 a0001c0005 a0001c0015 a0002c0002 a0002c0003 a0005c0024 a0011c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0005t0001 a0001c0015t0001 a0002c0002t0001 a0002c0003t0001 a0002c0003t0005 a0005c0024t0001 a0011c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(75): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0187 a0001c0001t0001g0232 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0001g0266 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0294 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0279 a0001c0001t0003g0281 a0001c0001t0004g0267 a0001c0005t0001g0256 a0001c0015t0001g0152 a0002c0002t0001g0010 a0002c0002t0001g0020 a0002c0002t0001g0023 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0036 a0002c0002t0001g0047 a0002c0002t0001g0053 a0002c0002t0001g0085 a0002c0002t0001g0126 a0002c0002t0001g0166 a0002c0002t0001g0180 a0002c0002t0001g0200 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0211 a0002c0002t0001g0237 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0257 a0002c0002t0001g0280 a0002c0003t0001g0301 a0002c0003t0005g0297 a0005c0024t0001g0083 a0011c0019t0001g0097	82	288	0.2847	34	c.214 others(51): Show c.2145+235_2145+236insGTGTATATATATATACGTATATATATAT ATATAT	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499721	A A	ATATGTGT others(27): Show ATATGTGTATATATATATACGTATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	315	0.0032	34	c.214 others(51): Show c.2145+235_2145+236insGTGTATATATATATACGTATATATATAT GTGTAT	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(27): Show ATATATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0153 a0001c0005t0004g0153	1	78	0.0128	34	c.-17 others(45): Show c.-1762_-1761insTATATATATATATATATATATATATTTTTTTTTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1671		chr16	TogoVar
ITGAM_chr16_31254975_31337877	31270126	C C	CTCCTTTG others(27): Show CTCCTTTGCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02055.hp2 HG02572.hp1 others(2): Show HG00733.hp2 HG02055.hp2 HG02572.hp1 HG02622.hp1 HG02970.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0006 a0002c0003 a0004c0006	a0002c0003t0003 a0004c0006t0003 a0002c0003t0003 a0004c0006t0003	a0002c0003t0003g0006 a0002c0003t0003g0126 a0004c0006t0003g0013 others(2): Show a0002c0003t0003g0006 a0002c0003t0003g0126 a0004c0006t0003g0013 a0004c0006t0003g0016 a0004c0006t0003g0017	5	211	0.0237	34	c.428 others(49): Show c.428-827_428-826insCCTTTGCTTTCCTTTCCTTTCCTTTCCTTT CCTT	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(27): Show TTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0031 a0003c0004t0005g0031	1	220	0.0045	34	c.170 others(53): Show c.1707+4444_1707+4445insCTTTCTTTCTTTCTTTCTTTCTTCTT TCTTTCTT	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(27): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0165 a0001c0004t0001g0165	1	14	0.0714	34	c.-1+ others(51): Show c.-1+10679_-1+10712dupACACACACACACACACACACACACACAC ACACAC	ITGB1	ENSG00000150093.20	transcript	ENST00000302278.8	protein_coding	1/15			chr10	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TATACATA others(27): Show TATACATATATATATATGTATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0055 a0002c0004t0002g0055	1	6	0.1667	34	c.101 others(53): Show c.1015+6589_1015+6590insTACATATATATATATGTATATATATA TATACACA	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(27): Show TATATATATATATATATGTATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0094 a0001c0003t0001g0094	1	6	0.1667	34	c.101 others(53): Show c.1015+6589_1015+6590insTATATATATATATATGTATATATATA TATACACA	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(27): Show TATATATATATATATGTATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	6	0.1667	34	c.101 others(53): Show c.1015+6589_1015+6590insTATATATATATATGTATATATATATA TACACACA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITIH2_chr10_7698316_7754520	7738255	T T	TATATTAT others(27): Show TATATTATATTCTATATAATATTATATTCTATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01517.hp1 HG01496.hp1 HG01517.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0246 a0005c0006t0001g0248 a0005c0006t0001g0246 a0005c0006t0001g0248	2	374	0.0053	34	c.195 others(51): Show c.1958-340_1958-339insTCTATATAATATTATATTCTATATAATA TTATAT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH4_chr3_52807962_52835672	52832637	G G	GAGGGAGA others(27): Show GAGGGAGAGGGGTTTTGAGGTCCCTAGTGCAGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01243.hp2 HG01891.hp1 others(4): Show HG01074.hp1 HG01243.hp2 HG01891.hp1 HG02280.hp1 HG03139.hp1 HG03195.hp2 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0003 a0003c0003t0001 a0003c0003t0003	a0003c0003t0001g0026 a0003c0003t0001g0050 a0003c0003t0001g0051 others(1): Show a0003c0003t0001g0026 a0003c0003t0001g0050 a0003c0003t0001g0051 a0003c0003t0003g0017	7	39	0.1795	34	c.-19 others(45): Show c.-1996_-1995insGCACTGCACTAGGGACCTCAAAACCCCTCTCCCT	ITIH4	ENSG00000055955.17	transcript	ENST00000266041.9	protein_coding		1966		chr3	TogoVar
ITIH5_chr10_7554270_7671966	7556104	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG04204.hp2 HG03704.hp1 HG04204.hp2	a0003 a0004 a0003 a0004	a0003c0005 a0004c0008 a0003c0005 a0004c0008	a0003c0005t0005 a0004c0008t0005 a0003c0005t0005 a0004c0008t0005	a0003c0005t0005g0115 a0004c0008t0005g0269 a0003c0005t0005g0115 a0004c0008t0005g0269	2	325	0.0062	34	c.69 others(45): Show c.6978_*6979insTATATATATATATATATATATATATATATATATA	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding		3165		chr10	TogoVar
ITPR1_chr3_4488348_4852506	4694279	G G	GATTATAA others(27): Show GATTATAAAGTATATATTTATGATATATAAAGTAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	157	0.0064	34	c.428 others(51): Show c.4281+585_4281+618dupATATTTATGATATATAAAGTATATTATA AAGTAT	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	33/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR2_chr12_26330352_26838194	26568006	T T	TTATATAT others(27): Show TTATATATATATATATATATTATATATATTATATA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	133	0.0075	34	c.463 others(53): Show c.4631-6055_4631-6054insTATATAATATATATAATATATATATA TATATATA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26802562	T T	TATATAGA others(27): Show TATATAGATATAGATATAGATATATCTATATATAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02280.hp1 HG02451.hp1	a0003 a0003	a0003c0032 a0003c0033 a0003c0032 a0003c0033	a0003c0032t0009 a0003c0033t0034 a0003c0032t0009 a0003c0033t0034	a0003c0032t0009g0056 a0003c0033t0034g0038 a0003c0032t0009g0056 a0003c0033t0034g0038	2	140	0.0143	34	c.93- others(51): Show c.93-12369_93-12336dupCTATATATAGATATATCTATATCTATAT CTATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56			chr12	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(27): Show CTCTCTCTCCATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA19000.hp1 NA18988.hp2 NA19000.hp1	a0002 a0006 a0002 a0006	a0002c0001 a0006c0010 a0002c0001 a0006c0010	a0002c0001t0002 a0006c0010t0004 a0002c0001t0002 a0006c0010t0004	a0002c0001t0002g0180 a0006c0010t0004g0219 a0002c0001t0002g0180 a0006c0010t0004g0219	2	60	0.0333	34	c.-98 others(51): Show c.-98+5501_-98+5502insCTCTCTCCATATATATATATATATATAT ATATAT	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(27): Show CTCTCTCTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0004 a0005c0009t0004	a0005c0009t0004g0047 a0005c0009t0004g0047	1	59	0.0169	34	c.-98 others(51): Show c.-98+5501_-98+5502insCTCTCTCTATATATATATATATATATAT ATATAT	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(27): Show CTCTCTCTCTCCATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0197 a0002c0001t0001g0197	1	59	0.0169	34	c.-98 others(51): Show c.-98+5501_-98+5502insCTCTCTCTCCATATATATATATATATAT ATATAT	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(27): Show CTCTCTCTCTCTCCATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0023 a0023	a0023c0036 a0023c0036	a0023c0036t0001 a0023c0036t0001	a0023c0036t0001g0202 a0023c0036t0001g0202	1	59	0.0169	34	c.-98 others(51): Show c.-98+5501_-98+5502insCTCTCTCTCTCCATATATATATATATAT ATATAT	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(27): Show CTCTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0094	1	59	0.0169	34	c.-98 others(51): Show c.-98+5501_-98+5502insCTCTCTCTCTCTATATATATATATATAT ATATAT	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(27): Show CTCTCTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	59	0.0169	34	c.-98 others(51): Show c.-98+5501_-98+5502insCTCTCTCTCTCTCTATATATATATATAT ATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519645	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0124 a0001c0002t0002g0124	1	244	0.0041	34	c.-98 others(51): Show c.-98+5526_-98+5527insTATATATATATATATATATATATATATA TATAAA	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(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0006 a0003c0021t0006	a0003c0021t0006g0280 a0003c0021t0006g0280	1	159	0.0063	34	c.122 others(55): Show c.1228+16502_1228+16503insCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTTTCT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31624423	G G	GATATAGA others(27): Show GATATAGATCAATGGAACAGAACAGAGCCCTCAGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0076 a0001c0003t0001g0076	1	310	0.0032	34	c.122 others(55): Show c.1229-17751_1229-17718dupTATAGATCAATGGAACAGAACAGA GCCCTCAGAA	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITSN2_chr2_24197864_24365536	24337315	A A	AATATATA others(27): Show AATATATATATATATACATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0017 a0003c0003t0001g0017	1	76	0.0132	34	c.-33 others(51): Show c.-33-9201_-33-9200insATATATGTATATATATATGTATATATAT ATATAT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	1/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24337315	A A	AATATATA others(27): Show AATATATATATATATACATATATATATATATACAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0036 a0003c0007t0001g0036	1	76	0.0132	34	c.-33 others(51): Show c.-33-9201_-33-9200insATGTATATATATATATATGTATATATAT ATATAT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	1/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24337315	A A	AATATATA others(27): Show AATATATATATATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0028 a0004c0004t0001g0028	1	76	0.0132	34	c.-33 others(51): Show c.-33-9201_-33-9200insATATATATATATATATATGTATATATAT ATATAT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	1/39			chr2	TogoVar
IVD_chr15_40400795_40426308	40425440	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0039 a0002c0003t0009g0039	1	103	0.0097	34	c.71 others(45): Show c.7177_*7178insTATATATATATATATATATATATATATATATATA	IVD	ENSG00000128928.10	transcript	ENST00000487418.8	protein_coding		4133		chr15	TogoVar
IZUMO3_chr9_24537952_24550897	24546498	T T	TTTTCTTT others(27): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	421	0.0024	34	c.-85 others(43): Show c.-850_-849insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		602		chr9	TogoVar
JADE1_chr4_128804700_128880224	128815120	G G	GCTCCCTG others(27): Show GCTCCCTGTAAGCTCCGCCTCCCTGTAAGCTCCGC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01993.hp2 HG02083.hp2 others(7): Show HG01071.hp1 HG01993.hp2 HG02083.hp2 HG02280.hp1 HG02630.hp1 HG02818.hp1 HG03486.hp2 HG03704.hp1 HG04199.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0019	a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0001g0169 others(7): Show a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0001g0169 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0001t0005g0136 a0001c0001t0012g0048 a0001c0001t0012g0049 a0001c0001t0019g0126	10	93	0.1075	34	c.-27 others(51): Show c.-27+5281_-27+5314dupCCTGTAAGCTCCGCCTCCCTGTAAGCTC CGCCTC	JADE1	ENSG00000077684.16	transcript	ENST00000226319.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
JADE3_chrX_46907421_47066242	46999438	T T	TATATATA others(27): Show TATATATATATATAACATATATATACATATATAAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00544.hp2 others(13): Show HG00323.hp1 HG00423.hp2 HG00544.hp2 HG00673.hp1 HG01433.hp1 HG01943.hp1 HG02523.hp1 NA18957.hp2 NA18965.hp1 NA18993.hp2 NA19000.hp1 NA19009.hp1 NA19057.hp1 NA19060.hp1 NA19068.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0016	a0001c0001t0001g0081 a0001c0001t0001g0188 a0001c0001t0002g0073 others(13): Show a0001c0001t0001g0081 a0001c0001t0001g0188 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0102 a0001c0001t0002g0127 a0001c0001t0002g0195 a0001c0001t0005g0077 a0001c0001t0005g0097 a0001c0001t0005g0169 a0001c0001t0005g0223 a0001c0001t0016g0096	16	256	0.0625	34	c.284 others(51): Show c.284+1176_284+1209dupCATATATATACATATATAACATATATAT ATATAA	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JAK1_chr1_64828229_64971549	64902583	A A	AGAGAGAG others(27): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	9	0.1111	34	c.-77 others(53): Show c.-77-16243_-77-16242insACACACTCTCTCTCTCTCTCTCTCTC TCTCTCTC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK2_chr9_4980272_5134948	5062500	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0208 a0001c0003t0016g0208	1	99	0.0101	34	c.105 others(53): Show c.1057-2352_1057-2351insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK2_chr9_4980272_5134948	5131435	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03579.hp2 HG03098.hp1 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0016 a0001c0004t0004 a0001c0003t0016 a0001c0004t0004	a0001c0003t0016g0207 a0001c0004t0004g0044 a0001c0003t0016g0207 a0001c0004t0004g0044	2	217	0.0092	34	c.46 others(45): Show c.4644_*4645insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding		1488		chr9	TogoVar
JAKMIP1_chr4_6021199_6205549	6037621	T T	TCCCTCCA others(27): Show TCCCTCCATCACTGAGTCAGAGGTTAACCCAGTAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02970.hp2 HG03130.hp1 others(1): Show HG02257.hp1 HG02970.hp2 HG03130.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0177 a0001c0001t0001g0205 a0001c0001t0001g0206 others(1): Show a0001c0001t0001g0177 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0003t0001g0056	4	231	0.0173	34	c.217 others(53): Show c.2176-1515_2176-1514insCTACTGGGTTAACCTCTGACTCAGTG ATGGAGGG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	18/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0213 a0001c0002t0005g0213	1	109	0.0092	34	c.-14 others(55): Show c.-149+40300_-149+40301insAAAATATATATATATATATATATA TATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132097884	T T	TCTCCCCT others(27): Show TCTCCCCTTCCCCTTCCCCTTTCCTTCCCCTTTCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG00642.hp1 HG01069.hp1	a0002 a0002	a0002c0004 a0002c0037 a0002c0004 a0002c0037	a0002c0004t0004 a0002c0037t0001 a0002c0004t0004 a0002c0037t0001	a0002c0004t0004g0040 a0002c0037t0001g0140 a0002c0004t0004g0040 a0002c0037t0001g0140	2	156	0.0128	34	c.-13 others(53): Show c.-137-6786_-137-6785insCCCCTTCCCCTTCCCCTTTCCTTCCC CTTTCCCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132097903	T T	TTCCCCTT others(27): Show TTCCCCTTCCCCTTTCCTTCCTTCCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0008 a0008	a0008c0044 a0008c0044	a0008c0044t0002 a0008c0044t0002	a0008c0044t0002g0031 a0008c0044t0002g0031	1	156	0.0064	34	c.-13 others(53): Show c.-137-6756_-137-6755insTCCTTCCTTCCTTTTCTTTTCTCCCC TTCCCCTT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr10	TogoVar

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