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
HTR5A_chr7_155065324_155092392	155073889	G G	GTGTATAT others(11): Show GTGTATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp1 HG02896.hp1 others(3): Show HG02451.hp1 HG02630.hp1 HG02896.hp1 HG02976.hp1 HG03130.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0051 a0001c0001t0012 a0001c0001t0051	a0001c0001t0012g0022 a0001c0001t0012g0023 a0001c0001t0051g0023 a0001c0001t0012g0022 a0001c0001t0012g0023 a0001c0001t0051g0023	6	430	0.0140	18	c.741 others(35): Show c.741+2250_741+2251insGTATATATATATGTATAT		HTR5A	ENSG00000157219.5	transcript	ENST00000287907.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr7	TogoVar
HTR5A_chr7_155065324_155092392	155073900	T T	TATGTATA others(11): Show TATGTATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0076 a0001c0001t0012g0076	1	430	0.0023	18	c.741 others(35): Show c.741+2262_741+2263insGTATATATATATACACAT		HTR5A	ENSG00000157219.5	transcript	ENST00000287907.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr7	TogoVar
HTR7_chr10_90735823_90863039	90858055	C C	CCCGCCGC others(11): Show CCCGCCGCCGCCGCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02622.hp1 HG02630.hp2 others(1): Show HG02559.hp1 HG02622.hp1 HG02630.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0031 a0001c0001t0005 a0001c0001t0006 a0001c0001t0031	a0001c0001t0005g0295 a0001c0001t0006g0205 a0001c0001t0006g0206 others(1): Show a0001c0001t0005g0295 a0001c0001t0006g0205 a0001c0001t0006g0206 a0001c0001t0031g0389	4	404	0.0099	18	c.-38 others(27): Show c.-385_-384insCGGCGGCGGCGGCGGCGG		HTR7	ENSG00000148680.16	transcript	ENST00000336152.8	protein_coding					17		chr10	TogoVar
HTT_chr4_3069681_3248957	3074876	C C	CCAGCAGC others(11): Show CCAGCAGCAGCAGCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00438.hp2 NA19030.hp1 HG00438.hp2 NA19030.hp1	a0037 a0037	a0037c0121 a0037c0122 a0037c0121 a0037c0122	a0037c0121t0001 a0037c0122t0001 a0037c0121t0001 a0037c0122t0001	a0037c0121t0001g0189 a0037c0122t0001g0062 a0037c0121t0001g0189 a0037c0122t0001g0062	2	294	0.0068	18	c.93_ others(24): Show c.93_110dupGCAGCAGCAGCAGCAGCA	p.Gln others(11): Show p.Gln32_Gln37dup	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	256/13472	111/9429	37/3142		INFO_REALIGN_3_PRIME	chr4	TogoVar
HUNK_chr21_31868020_32009064	31900446	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01081.hp1 HG02630.hp2 others(5): Show HG00733.hp2 HG01081.hp1 HG02630.hp2 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03516.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0021 a0001c0002t0046 a0001c0004t0037 a0001c0015t0050	a0001c0001t0001g0002 a0001c0001t0001g0043 a0001c0002t0002g0215 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0043 a0001c0002t0002g0215 a0001c0002t0005g0074 a0001c0002t0021g0044 a0001c0002t0046g0286 a0001c0004t0037g0150 a0001c0015t0050g0287	8	328	0.0244	18	c.262 others(37): Show c.262-24006_262-23989dupCACACACACACACACACA		HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
HUNK_chr21_31868020_32009064	31973581	G G	GTGATGAT others(11): Show GTGATGATGATGATGATGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0067 a0001c0012t0067	a0001c0012t0067g0086 a0001c0012t0067g0086	1	328	0.0031	18	c.101 others(35): Show c.1011-962_1011-945dupATGATGATGATGATGATG		HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
HUS1B_chr6_650939_662100	658645	T T	TTATATAT others(11): Show TTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	432	0.0023	18	c.-17 others(29): Show c.-1719_-1702dupTATATATATATATATATA		HUS1B	ENSG00000188996.5	transcript	ENST00000380907.3	protein_coding					1546		chr6	TogoVar
HUS1_chr7_47958288_47984615	47959726	G G	GGAGGAGG others(11): Show GGAGGAGGTGGAGGTCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	410	0.0024	18	c.56 others(29): Show c.5629_*5630insGCTGACCTCCACCTCCTC		HUS1	ENSG00000136273.13	transcript	ENST00000258774.10	protein_coding					3561		chr7	TogoVar
HYAL2_chr3_50312808_50327745	50315844	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	354	0.0028	18	c.22 others(29): Show c.2284_*2285insAAAAAAAAAAAAAAAAAA		HYAL2	ENSG00000068001.14	transcript	ENST00000357750.9	protein_coding					1963		chr3	TogoVar
HYAL3_chr3_50287832_50304405	50304296	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	378	0.0027	18	c.-51 others(29): Show c.-5102_-5101insATATATATATTTTTTTTT		HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding					4892		chr3	TogoVar
HYAL3_chr3_50287832_50304405	50304296	A A	AATATATA others(11): Show AATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	18	c.-51 others(29): Show c.-5119_-5102dupATATATATATATATATAT		HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding					4892		chr3	TogoVar
HYCC2_chr2_200968718_201076671	201047445	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	176	0.0057	18	c.-12 others(37): Show c.-128-1870_-128-1853dupATATATATATATATATAT		HYCC2	ENSG00000155744.10	transcript	ENST00000681958.1	protein_coding	1/12						chr2	TogoVar
HYCC2_chr2_200968718_201076671	201076484	A A	AATATATA others(11): Show AATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG03491.hp2 HG00741.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0036 a0001c0001t0013 a0001c0001t0036	a0001c0001t0013g0005 a0001c0001t0036g0080 a0001c0001t0013g0005 a0001c0001t0036g0080	2	176	0.0114	18	c.-50 others(29): Show c.-5021_-5004dupATATATATATATATATAT		HYCC2	ENSG00000155744.10	transcript	ENST00000681958.1	protein_coding					4814		chr2	TogoVar
HYDIN_chr16_70797084_71235722	70902794	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp1 HG03098.hp2 others(1): Show HG02886.hp1 HG02922.hp1 HG03098.hp2 NA20300.hp1	a0003 a0003	a0003c0004 a0003c0022 a0003c0004 a0003c0022	a0003c0004t0005 a0003c0022t0005 a0003c0004t0005 a0003c0022t0005	a0003c0004t0005g0023 a0003c0004t0005g0033 a0003c0004t0005g0041 others(1): Show a0003c0004t0005g0023 a0003c0004t0005g0033 a0003c0004t0005g0041 a0003c0022t0005g0040	4	174	0.0230	18	c.884 others(35): Show c.8849+813_8849+830dupATATATATATATATATAT		HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85						chr16	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATATTT others(11): Show ATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0035 a0035	a0035c0087 a0035c0087	a0035c0087t0010 a0035c0087t0010	a0035c0087t0010g0135 a0035c0087t0010g0135	1	174	0.0058	18	c.884 others(35): Show c.8849+803_8849+804insAAAAAAAAAAAAAATATA		HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85						chr16	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATTTTT others(11): Show ATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0028 a0028	a0028c0065 a0028c0065	a0028c0065t0001 a0028c0065t0001	a0028c0065t0001g0109 a0028c0065t0001g0109	1	174	0.0058	18	c.884 others(35): Show c.8849+803_8849+804insAAAAAAAAAAAAAAAATA		HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85						chr16	TogoVar
HYDIN_chr16_70797084_71235722	70904518	T T	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	174	0.0058	18	c.851 others(35): Show c.8517-455_8517-454insCAAAAAAAAAAAAAAAAA		HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	50/85						chr16	TogoVar
HYDIN_chr16_70797084_71235722	71061861	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02572.hp2 HG00738.hp1 HG02572.hp2	a0005 a0005	a0005c0020 a0005c0020	a0005c0020t0006 a0005c0020t0006	a0005c0020t0006g0072 a0005c0020t0006g0074 a0005c0020t0006g0072 a0005c0020t0006g0074	2	174	0.0115	18	c.237 others(35): Show c.2376+290_2376+307dupACACACACACACACACAC		HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	17/85						chr16	TogoVar
HYKK_chr15_78502577_78541645	78504595	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00544.hp2 others(34): Show HG00280.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp2 HG00733.hp1 HG01069.hp2 HG01070.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01192.hp2 HG01515.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp2 HG02071.hp2 HG02683.hp2 HG03239.hp1 HG03710.hp1 NA18939.hp1 NA18941.hp1 NA18945.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18978.hp2 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18998.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0024 a0001c0001t0028 a0001c0001t0056 a0001c0001t0070 a0001c0001t0072 a0001c0001t0073 a0001c0002t0002 a0001c0002t0011 a0001c0002t0044	a0001c0001t0001g0009 a0001c0001t0001g0153 a0001c0001t0003g0233 others(32): Show a0001c0001t0001g0009 a0001c0001t0001g0153 a0001c0001t0003g0233 a0001c0001t0003g0258 a0001c0001t0004g0016 a0001c0001t0004g0051 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0004g0061 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0076 a0001c0001t0009g0015 a0001c0001t0009g0050 a0001c0001t0009g0080 a0001c0001t0024g0084 a0001c0001t0028g0059 a0001c0001t0028g0070 a0001c0001t0028g0078 a0001c0001t0056g0009 a0001c0001t0070g0007 a0001c0001t0072g0071 a0001c0001t0073g0047 a0001c0002t0002g0008 a0001c0002t0002g0014 a0001c0002t0002g0019 a0001c0002t0002g0046 a0001c0002t0002g0086 a0001c0002t0002g0122 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0135 a0001c0002t0002g0293 a0001c0002t0011g0091 a0001c0002t0044g0119	37	412	0.0898	18	c.-30 others(29): Show c.-3082_-3081insAAAAAAAAAAAAAAAAAA		HYKK	ENSG00000188266.14	transcript	ENST00000388988.9	protein_coding					2981		chr15	TogoVar
HYKK_chr15_78502577_78541645	78514889	C C	CCTCTCTC others(11): Show CCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0312 a0001c0001t0005g0312	1	412	0.0024	18	c.338 others(31): Show c.338-76_338-59dupCTCTCTCTCTCTCTCTCT		HYKK	ENSG00000188266.14	transcript	ENST00000388988.9	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr15	TogoVar
HYKK_chr15_78502577_78541645	78514908	C C	CTCTCTCT others(11): Show CTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18993.hp1 NA18941.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0051 a0001c0001t0009g0067 a0001c0001t0004g0051 a0001c0001t0009g0067	2	412	0.0049	18	c.338 others(31): Show c.338-59_338-58insCTCTCTCTATATATATAT		HYKK	ENSG00000188266.14	transcript	ENST00000388988.9	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr15	TogoVar
HYKK_chr15_78502577_78541645	78514908	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0288 a0001c0001t0004g0288	1	412	0.0024	18	c.338 others(31): Show c.338-59_338-58insCTCTCTCTCTATATATAT		HYKK	ENSG00000188266.14	transcript	ENST00000388988.9	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr15	TogoVar
HYKK_chr15_78502577_78541645	78514908	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0081 a0001c0001t0009g0081	1	412	0.0024	18	c.338 others(31): Show c.338-59_338-58insCTCTCTCTCTCTATATAT		HYKK	ENSG00000188266.14	transcript	ENST00000388988.9	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr15	TogoVar
IAH1_chr2_9469551_9494742	9489259	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG02886.hp1 HG01891.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0050 a0001c0001t0049 a0001c0001t0050	a0001c0001t0049g0108 a0001c0001t0050g0001 a0001c0001t0049g0108 a0001c0001t0050g0001	2	342	0.0059	18	c.93 others(27): Show c.937_*954dupTTTTTTTTTTTTTTTTTT		IAH1	ENSG00000134330.19	transcript	ENST00000497473.6	protein_coding	6/6				955	INFO_REALIGN_3_PRIME	chr2	TogoVar
IARS1_chr9_92205207_92298697	92229358	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	338	0.0030	18	c.328 others(35): Show c.3284-250_3284-233dupGTGTGTGTGTGTGTGTGT		IARS1	ENSG00000196305.19	transcript	ENST00000443024.7	protein_coding	30/33						chr9	TogoVar
IARS2_chr1_220089132_220153041	220112124	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	366	0.0027	18	c.147 others(37): Show c.1479+1191_1479+1208dupTTTTTTTTTTTTTTTTTT		IARS2	ENSG00000067704.10	transcript	ENST00000366922.3	protein_coding	11/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
IBA57_chr1_228160804_228187257	228182366	A A	AGTGTGTG others(11): Show AGTGTGTGGTGGGGACGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	416	0.0024	18	c.68 others(29): Show c.6853_*6854insGTGTGTGGTGGGGACGGG		IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding					110		chr1	TogoVar
IBSP_chr4_87794554_87817435	87813979	C C	CATATATA others(11): Show CATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19063.hp1 NA19030.hp2 NA19063.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0006 a0002c0002 a0006c0006	a0002c0002t0001 a0006c0006t0001 a0002c0002t0001 a0006c0006t0001	a0002c0002t0001g0007 a0006c0006t0001g0010 a0002c0002t0001g0007 a0006c0006t0001g0010	2	454	0.0044	18	c.20 others(29): Show c.2069_*2070insATATATATATATATATAT		IBSP	ENSG00000029559.7	transcript	ENST00000226284.7	protein_coding					1545		chr4	TogoVar
IBTK_chr6_82164987_82252744	82220937	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0079 a0002c0002t0002g0079	1	296	0.0034	18	c.112 others(35): Show c.1125-242_1125-225dupGTGTGTGTGTGTGTGTGT		IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	8/28						chr6	TogoVar
ICA1L_chr2_202768176_202876766	202777044	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0284 a0001c0001t0033g0284	1	330	0.0030	18	c.24 others(29): Show c.2471_*2488dupAAAAAAAAAAAAAAAAAA		ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	13/13				2488		chr2	TogoVar
ICA1L_chr2_202768176_202876766	202797132	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02056.hp2 HG01496.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0239 a0001c0001t0011g0259 a0001c0001t0001g0239 a0001c0001t0011g0259	2	330	0.0061	18	c.911 others(33): Show c.911-186_911-169dupCACACACACACACACACA		ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	9/12						chr2	TogoVar
ICA1L_chr2_202768176_202876766	202839558	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0280 a0001c0001t0006g0280	1	330	0.0030	18	c.-7- others(35): Show c.-7-10560_-7-10543dupCACACACACACACACACA		ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12						chr2	TogoVar
ICA1L_chr2_202768176_202876766	202860273	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01496.hp1 HG02976.hp2 others(1): Show HG01361.hp2 HG01496.hp1 HG02976.hp2 NA18978.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0008 a0001c0001t0016 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0016 a0002c0002t0054	a0001c0001t0002g0088 a0001c0001t0008g0008 a0001c0001t0016g0118 others(1): Show a0001c0001t0002g0088 a0001c0001t0008g0008 a0001c0001t0016g0118 a0002c0002t0054g0324	4	330	0.0121	18	c.-8+ others(35): Show c.-8+11328_-8+11345dupATTATTATTATTATTATT		ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12						chr2	TogoVar
ICA1L_chr2_202768176_202876766	202864627	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA18952.hp1 NA19085.hp2 HG00735.hp2 NA18952.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0030 a0001c0001t0008 a0001c0001t0030	a0001c0001t0008g0006 a0001c0001t0008g0007 a0001c0001t0030g0012 a0001c0001t0008g0006 a0001c0001t0008g0007 a0001c0001t0030g0012	3	330	0.0091	18	c.-8+ others(33): Show c.-8+6974_-8+6991dupCACACACACACACACACA		ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12						chr2	TogoVar
ICA1_chr7_8108184_8267167	8145764	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	274	0.0037	18	c.805 others(35): Show c.805-1793_805-1792insCATATATATATATATATA		ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13						chr7	TogoVar
ICA1_chr7_8108184_8267167	8145764	A A	ATATATAT others(11): Show ATATATATGTATATATATG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02723.hp1 HG02572.hp2 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0003 a0001c0003t0002 a0001c0003t0003	a0001c0003t0002g0102 a0001c0003t0003g0188 a0001c0003t0002g0102 a0001c0003t0003g0188	2	274	0.0073	18	c.805 others(35): Show c.805-1793_805-1792insCATATATATACATATATA		ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13						chr7	TogoVar
ICA1_chr7_8108184_8267167	8153836	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0189 a0001c0002t0002g0189	1	274	0.0037	18	c.804 others(35): Show c.804+3262_804+3279dupATATATATATATATATAT		ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13						chr7	TogoVar
ICA1_chr7_8108184_8267167	8169901	A A	AGTGTCTG others(11): Show AGTGTCTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	274	0.0037	18	c.580 others(37): Show c.580-11250_580-11249insACACACACACACAGACAC		ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	6/13						chr7	TogoVar
ICA1_chr7_8108184_8267167	8174771	A A	AAAAAAAA others(11): Show AAAAAAAAAACAAAAAACC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	274	0.0037	18	c.580 others(37): Show c.580-16120_580-16119insGGTTTTTTGTTTTTTTTT		ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	6/13						chr7	TogoVar
ICA1_chr7_8108184_8267167	8195542	C C	CAAAACAA others(11): Show CAAAACAAAAACAAAAACA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0158 a0001c0001t0007g0158	1	274	0.0037	18	c.579 others(37): Show c.579+22745_579+22762dupTGTTTTTGTTTTTGTTTT		ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	6/13						chr7	TogoVar
ICE2_chr15_60414609_60484142	60456584	T T	TATACACA others(11): Show TATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18978.hp1 NA18989.hp1 HG03688.hp1 NA18978.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0119 a0001c0002t0001g0151 a0001c0002t0001g0111 a0001c0002t0001g0119 a0001c0002t0001g0151	3	270	0.0111	18	c.666 others(31): Show c.666+72_666+73insGTGTGTGTGTGTGTGTAT		ICE2	ENSG00000128915.12	transcript	ENST00000261520.9	protein_coding	6/15						chr15	TogoVar
ICMT_chr1_6216193_6240964	6236097	G G	GCCCCGCC others(11): Show GCCCCGCCCGCCCGCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01071.hp2 others(1): Show HG00738.hp2 HG01069.hp1 HG01071.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0004g0010 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0004g0010	4	352	0.0114	18	c.-18 others(27): Show c.-187_-186insAGGGGCGGGCGGGCGGGG		ICMT	ENSG00000116237.16	transcript	ENST00000343813.10	protein_coding					134		chr1	TogoVar
IDE_chr10_92446684_92579093	92552857	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00733.hp1 HG00738.hp2 others(14): Show HG00408.hp2 HG00733.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01123.hp1 HG01928.hp2 HG02273.hp1 HG02293.hp1 HG02451.hp2 HG02683.hp2 HG02809.hp2 HG03710.hp2 HG03831.hp2 NA19079.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0162 others(14): Show a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0205 a0001c0001t0002g0279 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192	17	314	0.0541	18	c.99- others(35): Show c.99-15325_99-15308dupTTTTTTTTTTTTTTTTTT		IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	1/24						chr10	TogoVar
IDH3A_chr15_78144362_78176945	78158448	C C	CACATATA others(11): Show CACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0232 a0001c0002t0001g0232	1	386	0.0026	18	c.174 others(33): Show c.174+818_174+819insCATATATATATATATATA		IDH3A	ENSG00000166411.14	transcript	ENST00000299518.7	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
IDH3B_chr20_2653395_2669216	2661177	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03017.hp1 HG02698.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	2	440	0.0046	18	c.338 others(33): Show c.338-226_338-209dupCACACACACACACACACA		IDH3B	ENSG00000101365.21	transcript	ENST00000380843.9	protein_coding	4/11						chr20	TogoVar
IDI2_chr10_1013910_1030859	1025010	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	434	0.0023	18	c.-21 others(33): Show c.-21-284_-21-267dupTGTGTGTGTGTGTGTGTG		IDI2	ENSG00000148377.6	transcript	ENST00000277517.2	protein_coding	1/4						chr10	TogoVar
IDO2_chr8_39929651_40021392	39948029	C C	CTGCCTTG others(11): Show CTGCCTTGGCCTTCCAAAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0015 a0001c0007t0015	a0001c0007t0015g0093 a0001c0007t0015g0093	1	360	0.0028	18	c.-17 others(35): Show c.-17-1099_-17-1082dupCCTTGGCCTTCCAAAGTG		IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39986865	C C	CATTATTA others(11): Show CATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00597.hp1 others(53): Show HG00408.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00741.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01928.hp1 HG01975.hp1 HG01993.hp1 HG02040.hp1 HG02155.hp1 HG02165.hp2 HG03540.hp1 HG03704.hp2 HG03942.hp2 NA18945.hp1 NA18950.hp1 NA18951.hp2 NA18955.hp2 NA18961.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18979.hp1 NA18989.hp1 NA18993.hp1 NA19000.hp2 NA19007.hp1 NA19009.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19074.hp1 NA19080.hp1 NA19081.hp2 NA19090.hp1 NA19091.hp1 NA20805.hp1 NA20905.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0007	a0002c0002 a0003c0003 a0005c0005 others(1): Show a0002c0002 a0003c0003 a0005c0005 a0007c0008	a0002c0002t0008 a0003c0003t0002 a0003c0003t0003 others(6): Show a0002c0002t0008 a0003c0003t0002 a0003c0003t0003 a0003c0003t0010 a0005c0005t0003 a0005c0005t0010 a0005c0005t0019 a0007c0008t0006 a0007c0008t0011	a0002c0002t0008g0031 a0003c0003t0002g0014 a0003c0003t0002g0015 others(53): Show a0002c0002t0008g0031 a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0021 a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0033 a0003c0003t0002g0035 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0002g0043 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0047 a0003c0003t0002g0048 a0003c0003t0002g0052 a0003c0003t0002g0053 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0059 a0003c0003t0002g0064 a0003c0003t0002g0065 a0003c0003t0002g0066 a0003c0003t0002g0068 a0003c0003t0002g0073 a0003c0003t0002g0078 a0003c0003t0002g0086 a0003c0003t0003g0106 a0003c0003t0003g0121 a0003c0003t0003g0275 a0003c0003t0003g0277 a0003c0003t0003g0278 a0003c0003t0003g0279 a0003c0003t0003g0283 a0003c0003t0003g0293 a0003c0003t0003g0297 a0003c0003t0003g0298 a0003c0003t0003g0303 a0003c0003t0003g0317 a0003c0003t0003g0337 a0003c0003t0003g0348 a0003c0003t0003g0349 a0003c0003t0010g0183 a0003c0003t0010g0186 a0003c0003t0010g0225 a0003c0003t0010g0228 a0003c0003t0010g0244 a0003c0003t0010g0246 a0005c0005t0003g0312 a0005c0005t0010g0220 a0005c0005t0010g0221 a0005c0005t0010g0222 a0005c0005t0019g0082 a0007c0008t0006g0243 a0007c0008t0011g0070 a0007c0008t0011g0071	56	360	0.1556	18	c.450 others(33): Show c.450-996_450-979dupATTATTATTATTATTATT		IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995197	T T	TCTTCTCC others(11): Show TCTTCTCCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00673.hp2 others(20): Show HG00438.hp2 HG00558.hp1 HG00673.hp2 HG01993.hp2 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02523.hp2 NA18747.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp1 NA18955.hp1 NA18957.hp1 NA18963.hp1 NA18970.hp1 NA18978.hp1 NA18979.hp2 NA18986.hp1 NA19062.hp2 NA19080.hp2 NA19090.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0004c0004t0002 a0004c0004t0003 a0004c0004t0010	a0001c0001t0001g0155 a0001c0001t0001g0330 a0001c0001t0001g0353 others(20): Show a0001c0001t0001g0155 a0001c0001t0001g0330 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0004g0134 a0001c0001t0004g0136 a0001c0001t0004g0147 a0001c0001t0004g0333 a0001c0001t0006g0189 a0001c0001t0006g0245 a0001c0001t0006g0247 a0001c0001t0006g0248 a0001c0001t0006g0250 a0001c0001t0007g0181 a0001c0001t0007g0182 a0001c0001t0007g0185 a0001c0001t0007g0224 a0001c0001t0011g0027 a0001c0001t0011g0050 a0004c0004t0002g0038 a0004c0004t0003g0280 a0004c0004t0003g0355 a0004c0004t0010g0213	23	360	0.0639	18	c.667 others(35): Show c.667+5401_667+5418dupCCTTCTCCTTCTCCTTCT		IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
IER3IP1_chr18_47147834_47181364	47179060	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG03654.hp1 HG00140.hp1 HG00544.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0025 a0001c0001t0002g0015 a0001c0001t0001g0025 a0001c0001t0002g0015	3	378	0.0079	18	c.-27 others(29): Show c.-2784_-2783insTTTTTTTTTTTTTTTTTT		IER3IP1	ENSG00000134049.6	transcript	ENST00000256433.6	protein_coding					2697		chr18	TogoVar

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