Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
EXOC6B_chr2_72170984_72831033	72397625	A A	AAAAAAAA others(12): Show AAAAAAAAAATAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG02572.hp1 others(4): Show HG02258.hp2 HG02451.hp1 HG02572.hp1 HG02717.hp1 HG03130.hp2 HG03139.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0002g0011 a0001c0001t0002g0060 a0001c0001t0003g0028 others(4): Show a0001c0001t0002g0011 a0001c0001t0002g0060 a0001c0001t0003g0028 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0007g0062	7	75	0.0933	19	c.198 others(40): Show c.1981-17756_1981-17755insATTTTATTTATTTTTTTTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72397625	A A	AAAAAAAA others(12): Show AAAAAAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0002 a0002c0004t0008g0002	1	69	0.0145	19	c.198 others(40): Show c.1981-17756_1981-17755insATTTTATTTTATTTTTTTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72508184	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0080 a0001c0002t0005g0080	1	29	0.0345	19	c.116 others(38): Show c.1167+4947_1167+4948insGTTTTTTTTTTTTTTTTTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	11/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72767808	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0092 a0001c0003t0023g0092	1	11	0.0909	19	c.114 others(38): Show c.114-26358_114-26340dupTTTTTTTTTTTTTTTTTTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	1/21			chr2	TogoVar
EXOC6_chr10_92843520_93064490	92858021	T T	TCCCCCCC others(12): Show TCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	283	0.0035	19	c.101 others(36): Show c.101+9387_101+9388insCCCCCCCCCCCCCCCCCCC	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	1/21			chr10	TogoVar
EXOC6_chr10_92843520_93064490	92858022	T T	TCCCCCCC others(12): Show TCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03209.hp1 HG02258.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0158 a0001c0001t0004g0159	2	146	0.0137	19	c.101 others(36): Show c.101+9395_101+9396insCCCCCCCCCCCCCCCCCCC	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOC6_chr10_92843520_93064490	93050759	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18950.hp1 NA18971.hp1 others(4): Show HG02135.hp1 NA18950.hp1 NA18971.hp1 NA18983.hp2 NA19000.hp2 NA19004.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0030 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0089 a0001c0001t0001g0197	7	9	0.7778	19	c.217 others(38): Show c.2170-6161_2170-6143dupAAAAAAAAAAAAAAAAAAA	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOSC10_chr1_11061618_11104869	11078264	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG01175.hp1 others(15): Show HG00438.hp1 HG00673.hp1 HG01175.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01975.hp2 HG01993.hp1 HG03098.hp1 HG03669.hp1 NA18522.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18991.hp1 NA19007.hp1 NA19055.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0015 a0001c0003t0001g0221 a0001c0003t0001g0228 others(14): Show a0001c0003t0001g0015 a0001c0003t0001g0221 a0001c0003t0001g0228 a0001c0003t0001g0230 a0001c0003t0001g0232 a0001c0003t0001g0233 a0001c0003t0001g0234 a0001c0003t0001g0236 a0001c0003t0001g0238 a0001c0003t0001g0241 a0001c0003t0001g0242 a0001c0003t0001g0243 a0001c0003t0001g0244 a0001c0003t0001g0256 a0001c0003t0001g0260 a0001c0003t0002g0250 a0001c0003t0002g0253	18	245	0.0735	19	c.175 others(36): Show c.1750-614_1750-613insAAAAAAAAAAAAAAAAAAA	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	14/24			chr1	TogoVar
EXOSC10_chr1_11061618_11104869	11083562	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03225.hp2 HG02922.hp2 HG03225.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0210 a0001c0007t0001g0211 a0001c0007t0001g0210 a0001c0007t0001g0211	2	78	0.0256	19	c.109 others(36): Show c.1090-703_1090-685dupTTTTTTTTTTTTTTTTTTT	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	9/24			chr1	TogoVar
EXOSC1_chr10_97430909_97451006	97449861	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02717.hp2 HG03540.hp1 HG02451.hp2 HG02717.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0124 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0124	3	179	0.0168	19	c.-38 others(30): Show c.-3895_-3877dupAAAAAAAAAAAAAAAAAAA	EXOSC1	ENSG00000171311.13	transcript	ENST00000370902.8	protein_coding		3856		chr10	TogoVar
EXPH5_chr11_108500435_108598768	108532366	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0304 a0003c0003t0002g0304	1	258	0.0039	19	c.444 others(36): Show c.444-4183_444-4182insATATATATATATATATATA	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	3/5			chr11	TogoVar
EXPH5_chr11_108500435_108598768	108532366	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03225.hp2 HG02965.hp2 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0305 a0003c0003t0002g0308 a0003c0003t0002g0305 a0003c0003t0002g0308	2	259	0.0077	19	c.444 others(36): Show c.444-4183_444-4182insAAATATATATATATATATA	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	3/5			chr11	TogoVar
EXPH5_chr11_108500435_108598768	108532366	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0028 a0028	a0028c0029 a0028c0029	a0028c0029t0004 a0028c0029t0004	a0028c0029t0004g0113 a0028c0029t0004g0113	1	258	0.0039	19	c.444 others(36): Show c.444-4183_444-4182insAAAAAAATATATATATATA	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	3/5			chr11	TogoVar
EXPH5_chr11_108500435_108598768	108532367	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01071.hp2 HG01934.hp1 others(2): Show HG00621.hp2 HG01071.hp2 HG01934.hp1 HG03491.hp2 HG03492.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0003c0003t0052 a0001c0001t0002 a0003c0003t0002 a0003c0003t0052	a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0196 others(2): Show a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0196 a0003c0003t0002g0267 a0003c0003t0052g0216	5	246	0.0203	19	c.444 others(36): Show c.444-4184_444-4183insTATATATATATATATATAT	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	3/5			chr11	TogoVar
EXT1_chr8_117789490_118116826	117870495	G G	GGGGTCTG others(12): Show GGGGTCTGATGTTGATCTTA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03471.hp2 HG02559.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0064 a0001c0001t0006 a0001c0001t0064	a0001c0001t0006g0115 a0001c0001t0064g0177 a0001c0001t0006g0115 a0001c0001t0064g0177	2	190	0.0105	19	c.963 others(38): Show c.963-33295_963-33294insTAAGATCAACATCAGACCC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117874575	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0007 a0001c0001t0014g0007	1	69	0.0145	19	c.963 others(38): Show c.963-37375_963-37374insTTTTTTTTTTTTTTTTTTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXTL1_chr1_26016775_26041464	26027692	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA18955.hp1 NA19091.hp1 HG01069.hp2 NA18955.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0060 a0002c0002t0001g0030 a0002c0002t0001g0060	3	334	0.0090	19	c.780 others(36): Show c.780-1488_780-1487insGAAAAGAAAAAAAAAAAAA	EXTL1	ENSG00000158008.10	transcript	ENST00000374280.4	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EXTL1_chr1_26016775_26041464	26027693	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00639.hp2 others(21): Show HG00099.hp2 HG00438.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01123.hp2 HG01256.hp1 HG01258.hp1 HG01433.hp2 HG02015.hp1 HG02280.hp1 HG02280.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02895.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03654.hp2 HG04199.hp1 NA18906.hp1 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0003 a0002c0002t0024 a0002c0003t0001 others(2): Show a0002c0002t0003 a0002c0002t0024 a0002c0003t0001 a0002c0003t0008 a0002c0003t0026	a0002c0002t0003g0007 a0002c0002t0003g0016 a0002c0002t0003g0072 others(4): Show a0002c0002t0003g0007 a0002c0002t0003g0016 a0002c0002t0003g0072 a0002c0002t0024g0073 a0002c0003t0001g0042 a0002c0003t0008g0015 a0002c0003t0026g0074	24	358	0.0670	19	c.780 others(36): Show c.780-1485_780-1484insAAAGAAAAAAAAAAAAAAA	EXTL1	ENSG00000158008.10	transcript	ENST00000374280.4	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EXTL1_chr1_26016775_26041464	26027693	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	335	0.0030	19	c.780 others(36): Show c.780-1487_780-1486insGAAAAGAAAAAAAAAAAAA	EXTL1	ENSG00000158008.10	transcript	ENST00000374280.4	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EXTL1_chr1_26016775_26041464	26027694	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0075 a0002c0002t0027g0075	1	370	0.0027	19	c.780 others(36): Show c.780-1485_780-1484insAAAAGAAAAAAAAAAAAAA	EXTL1	ENSG00000158008.10	transcript	ENST00000374280.4	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EYA1_chr8_71192433_71367069	71274932	G G	GAGAGCAC others(12): Show GAGAGCACGAGAGCAAGCGA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	230	0.0043	19	c.827 others(36): Show c.827-3036_827-3035insTCGCTTGCTCTCGTGCTCT	EYA1	ENSG00000104313.20	transcript	ENST00000340726.8	protein_coding	9/17			chr8	TogoVar
EYA1_chr8_71192433_71367069	71346431	A A	AATATATA others(12): Show AATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02622.hp2 HG03098.hp2 HG01069.hp2 HG02622.hp2 HG03098.hp2	a0002 a0002	a0002c0006 a0002c0008 a0002c0006 a0002c0008	a0002c0006t0003 a0002c0008t0002 a0002c0006t0003 a0002c0008t0002	a0002c0006t0003g0029 a0002c0006t0003g0030 a0002c0008t0002g0028 a0002c0006t0003g0029 a0002c0006t0003g0030 a0002c0008t0002g0028	3	61	0.0492	19	c.124 others(36): Show c.124+8350_124+8351insATATATATATTATATATAT	EYA1	ENSG00000104313.20	transcript	ENST00000340726.8	protein_coding	3/17			chr8	TogoVar
EYA2_chr20_46889843_47193844	47063430	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	235	0.0043	19	c.416 others(36): Show c.416-8755_416-8754insGTGTGTGTGTGTGTGTGTG	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	5/15			chr20	TogoVar
EYA2_chr20_46889843_47193844	47178821	G G	GTGGGTGG others(12): Show GTGGGTGGATGGATGGATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00735.hp1 others(80): Show HG00438.hp2 HG00609.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01891.hp1 HG02015.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02258.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02683.hp1 HG02886.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18944.hp2 NA18946.hp1 NA18949.hp2 NA18950.hp2 NA18954.hp1 NA18963.hp1 NA18968.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18992.hp2 NA18993.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19009.hp1 NA19010.hp2 NA19043.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19082.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0012t0001 a0003c0006t0003	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0038 others(80): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0038 a0001c0001t0001g0087 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0193 a0001c0001t0003g0017 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0026 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0048 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0082 a0001c0001t0003g0089 a0001c0001t0003g0092 a0001c0001t0003g0097 a0001c0001t0003g0107 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0128 a0001c0001t0003g0132 a0001c0001t0003g0154 a0001c0001t0003g0158 a0001c0001t0003g0161 a0001c0001t0003g0170 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0207 a0001c0001t0003g0217 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0002t0001g0004 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0079 a0001c0003t0001g0093 a0001c0003t0001g0103 a0001c0003t0003g0022 a0001c0003t0003g0045 a0001c0003t0003g0049 a0001c0003t0003g0065 a0001c0003t0003g0085 a0001c0003t0003g0108 a0001c0003t0003g0111 a0001c0003t0003g0118 a0001c0003t0003g0183 a0001c0003t0003g0218 a0001c0003t0003g0234 a0001c0012t0001g0028 a0003c0006t0003g0165	83	165	0.5030	19	c.119 others(36): Show c.1199-961_1199-943dupATATTGGGTGGATGGATGG	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47178821	G G	GTGGGTGG others(12): Show GTGGGTGGATGGATGGATGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01243.hp2 HG01358.hp1 others(41): Show HG01167.hp2 HG01243.hp2 HG01358.hp1 HG01361.hp1 HG01884.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03710.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0004c0008 a0004c0011 a0005c0007 a0006c0010	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0004t0001 a0002c0005t0001 a0004c0008t0001 a0004c0011t0001 a0005c0007t0001 a0006c0010t0001	a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0091 others(41): Show a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0172 a0001c0001t0001g0220 a0001c0001t0001g0237 a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0064 a0001c0002t0001g0072 a0001c0002t0001g0101 a0001c0002t0001g0109 a0001c0002t0001g0120 a0001c0002t0001g0131 a0001c0002t0001g0143 a0001c0002t0001g0153 a0001c0002t0001g0171 a0001c0002t0001g0174 a0001c0002t0001g0236 a0001c0002t0004g0002 a0001c0002t0004g0032 a0001c0002t0004g0156 a0001c0002t0004g0169 a0001c0002t0004g0219 a0001c0003t0001g0098 a0001c0003t0001g0166 a0001c0003t0001g0238 a0001c0004t0001g0006 a0001c0004t0001g0142 a0002c0005t0001g0035 a0002c0005t0001g0036 a0002c0005t0001g0037 a0004c0008t0001g0147 a0004c0011t0001g0099 a0005c0007t0001g0007 a0006c0010t0001g0168	44	126	0.3492	19	c.119 others(36): Show c.1199-960_1199-959insGTTGGGTGGATGGATGGAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47178843	G G	GGTGGATG others(12): Show GGTGGATGGATGGATATTGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02109.hp1 others(6): Show HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02809.hp1 HG02818.hp1 HG03139.hp2 HG03486.hp1 NA18522.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0013 a0005c0007 a0001c0001 a0001c0013 a0005c0007	a0001c0001t0001 a0001c0013t0001 a0005c0007t0001 a0001c0001t0001 a0001c0013t0001 a0005c0007t0001	a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0046 others(6): Show a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0141 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0013t0001g0029 a0005c0007t0001g0027	9	236	0.0381	19	c.119 others(36): Show c.1199-943_1199-942insATATTGTGTGGATGGATGG	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA3_chr1_27965344_28093610	28038439	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	166	0.0060	19	c.224 others(34): Show c.224+381_224+399dupTTTTTTTTTTTTTTTTTTT	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	5/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	98	0.0102	19	c.-68 others(38): Show c.-68-15034_-68-15033insAAAAAAATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	98	0.0102	19	c.-68 others(38): Show c.-68-15034_-68-15033insAAAAAAAAATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073128	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01928.hp2 HG02723.hp1 HG00544.hp2 HG01928.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0283 a0001c0001t0004g0357 a0001c0001t0004g0358 a0001c0001t0001g0283 a0001c0001t0004g0357 a0001c0001t0004g0358	3	352	0.0085	19	c.-68 others(38): Show c.-68-15035_-68-15034insTATATATATATATATATAT	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084595	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	273	0.0037	19	c.-69 others(36): Show c.-69+3928_-69+3929insATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084595	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	273	0.0037	19	c.-69 others(36): Show c.-69+3928_-69+3929insAAATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084595	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	273	0.0037	19	c.-69 others(36): Show c.-69+3928_-69+3929insAAAAATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084596	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01952.hp2 HG01934.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0180 a0001c0001t0002g0182	2	354	0.0056	19	c.-69 others(36): Show c.-69+3927_-69+3928insTATATATATATATATATAT	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA4_chr6_133236357_133537128	133428911	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	28	0.0357	19	c.84- others(36): Show c.84-17706_84-17688dupTTTTTTTTTTTTTTTTTTT	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133439049	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG04228.hp2 NA18954.hp1 HG01346.hp1 HG04228.hp2 NA18954.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0019 a0002c0002t0001 a0001c0001t0001 a0001c0001t0019 a0002c0002t0001	a0001c0001t0001g0011 a0001c0001t0019g0261 a0002c0002t0001g0067 a0001c0001t0001g0011 a0001c0001t0019g0261 a0002c0002t0001g0067	3	28	0.1071	19	c.84- others(34): Show c.84-7572_84-7554dupAAAAAAAAAAAAAAAAAAA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYS_chr6_63714980_65712226	63727737	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03098.hp2 HG03195.hp1 HG02451.hp2 HG03098.hp2 HG03195.hp1	a0006 a0017 a0018 a0006 a0017 a0018	a0006c0017 a0017c0014 a0018c0018 a0006c0017 a0017c0014 a0018c0018	a0006c0017t0001 a0017c0014t0001 a0018c0018t0001 a0006c0017t0001 a0017c0014t0001 a0018c0018t0001	a0006c0017t0001g0002 a0017c0014t0001g0005 a0018c0018t0001g0007 a0006c0017t0001g0002 a0017c0014t0001g0005 a0018c0018t0001g0007	3	4	0.7500	19	c.807 others(38): Show c.8072-1058_8072-1057insATATATATATATATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	41/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64506908	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0006 a0001c0019t0001g0006	1	10	0.1000	19	c.564 others(40): Show c.5645-67557_5645-67556insTTTTTTTTTTTTTTTTTTT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	26/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64766649	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03098.hp1 HG03195.hp1 HG02970.hp1 HG03098.hp1 HG03195.hp1	a0014 a0016 a0018 a0014 a0016 a0018	a0014c0003 a0016c0022 a0018c0018 a0014c0003 a0016c0022 a0018c0018	a0014c0003t0001 a0016c0022t0001 a0018c0018t0001 a0014c0003t0001 a0016c0022t0001 a0018c0018t0001	a0014c0003t0001g0016 a0016c0022t0001g0011 a0018c0018t0001g0007 a0014c0003t0001g0016 a0016c0022t0001g0011 a0018c0018t0001g0007	3	11	0.2727	19	c.344 others(40): Show c.3443+46728_3443+46729insATATATATATATATATATT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	22/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64766649	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0020 a0020	a0020c0020 a0020c0020	a0020c0020t0002 a0020c0020t0002	a0020c0020t0002g0022 a0020c0020t0002g0022	1	9	0.1111	19	c.344 others(40): Show c.3443+46728_3443+46729insATATATATATATATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	22/42			chr6	TogoVar
EZHIP_chrX_51401948_51413843	51409476	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	225	0.0044	19	c.94 others(28): Show c.948_*949insTGTGTGTGTGTGTGTGTGT	EZHIP	ENSG00000187690.4	transcript	ENST00000342995.4	protein_coding		634		chrX	TogoVar
F10_chr13_113117799_113154529	113148343	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0267 a0001c0002t0001g0267	1	387	0.0026	19	c.866 others(34): Show c.866-573_866-572insTATATATATATATATATAT	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding	7/7			chr13	TogoVar
F10_chr13_113117799_113154529	113148345	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	187	0.0053	19	c.866 others(34): Show c.866-570_866-569insATATATATATATATATATA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F10_chr13_113117799_113154529	113148345	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02273.hp2 NA18612.hp2 HG01346.hp1 HG02273.hp2 NA18612.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0010 a0001c0002 a0004c0010	a0001c0002t0001 a0004c0010t0001 a0001c0002t0001 a0004c0010t0001	a0001c0002t0001g0014 a0001c0002t0001g0130 a0004c0010t0001g0014 a0001c0002t0001g0014 a0001c0002t0001g0130 a0004c0010t0001g0014	3	189	0.0159	19	c.866 others(34): Show c.866-571_866-570insTATATATATATATATATAT	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding	7/7			chr13	TogoVar
F5_chr1_169506951_169591481	169556425	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02723.hp1 HG02922.hp1 others(2): Show HG02622.hp1 HG02723.hp1 HG02922.hp1 HG03453.hp2 NA18522.hp1	a0002 a0004 a0010 others(2): Show a0002 a0004 a0010 a0035 a0041	a0002c0070 a0004c0059 a0010c0012 others(2): Show a0002c0070 a0004c0059 a0010c0012 a0035c0058 a0041c0060	a0002c0070t0001 a0004c0059t0001 a0010c0012t0002 others(2): Show a0002c0070t0001 a0004c0059t0001 a0010c0012t0002 a0035c0058t0003 a0041c0060t0005	a0002c0070t0001g0272 a0004c0059t0001g0295 a0010c0012t0002g0062 others(2): Show a0002c0070t0001g0272 a0004c0059t0001g0295 a0010c0012t0002g0062 a0035c0058t0003g0294 a0041c0060t0005g0292	5	15	0.3333	19	c.952 others(34): Show c.952+220_952+221insTTTTTTTTTTTTTTTTTTT	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169577560	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0033 a0003c0005t0003g0033	1	45	0.0222	19	c.250 others(36): Show c.250+4870_250+4871insATATATATATATATATATA	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	2/24			chr1	TogoVar
F7_chr13_113100791_113125685	113105040	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 NA19240.hp1 HG01243.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0038 a0001c0001t0013g0038	2	72	0.0278	19	c.-80 others(28): Show c.-802_-801insAAAAAATATATATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		750		chr13	TogoVar
F7_chr13_113100791_113125685	113108041	T T	TGTGGGTT others(12): Show TGTGGGTTGTCCCGGGGGGC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	397	0.0025	19	c.64+ others(34): Show c.64+2142_64+2143insTGTCCCGGGGGGCGTGGGT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113108057	G G	GCGTGGGT others(12): Show GCGTGGGTTGTCCCGGGGGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	131	0.0076	19	c.64+ others(34): Show c.64+2159_64+2160insTGTCCCGGGGGTCGTGGGT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113108159	G G	GGCGTGGG others(12): Show GGCGTGGGTGTCCCGGGGGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18975.hp1 HG00544.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0136 a0001c0001t0001g0107 a0001c0001t0001g0136	2	114	0.0175	19	c.64+ others(34): Show c.64+2254_64+2255insGCGTGGGTGTCCCGGGGGT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7			chr13	TogoVar

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