Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EXOC2_chr6_480154_698139	501210	ATATTATA others(6): Show ATATTATATATATC	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03041.hp2 HG03209.hp1 others(5): Show HG02976.hp1 HG03041.hp2 HG03209.hp1 HG03516.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0027 a0001c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0027 a0001c0002t0002 a0001c0003t0002 a0001c0003t0003	a0001c0001t0002g0168 a0001c0001t0002g0229 a0001c0001t0002g0233 others(5): Show a0001c0001t0002g0168 a0001c0001t0002g0229 a0001c0001t0002g0233 a0001c0001t0027g0272 a0001c0002t0002g0072 a0001c0003t0002g0020 a0001c0003t0002g0158 a0001c0003t0003g0170	8	272	0.0294	-13	c.238 others(32): Show c.2381-1523_2381-1511delGATATATATAATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501616	ATATATTA others(6): Show ATATATTATATATC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01255.hp2 HG03942.hp1 HG00738.hp2 HG01255.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0048 a0001c0001t0001g0215 a0001c0001t0014g0167 a0001c0001t0001g0048 a0001c0001t0001g0215 a0001c0001t0014g0167	3	272	0.0110	-13	c.238 others(32): Show c.2381-1929_2381-1917delGATATATAATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	526432	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	272	0.0037	-13	c.238 others(32): Show c.2380+6024_2380+6036delAAAAAAAAAAAAA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	612943	GCTCAAGG others(6): Show GCTCAAGGGGCATT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp1 HG02922.hp2 others(5): Show HG02257.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03195.hp1 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0162 a0001c0001t0002g0166 a0001c0001t0002g0227 others(5): Show a0001c0001t0002g0162 a0001c0001t0002g0166 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0235 a0001c0001t0003g0232 a0001c0001t0003g0234	8	272	0.0294	-13	c.662 others(30): Show c.662-2778_662-2766delAATGCCCCTTGAG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	6/27			chr6	TogoVar
EXOC2_chr6_480154_698139	654803	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0158 a0001c0003t0002g0158	1	272	0.0037	-13	c.-43 others(32): Show c.-43-16955_-43-16943delTTTTTTTTTTTTT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
EXOC2_chr6_480154_698139	658632	ATATATAT others(6): Show ATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	272	0.0037	-13	c.-43 others(32): Show c.-43-20784_-43-20772delAAATATATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
EXOC2_chr6_480154_698139	673252	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0003 a0001c0018t0003	a0001c0018t0003g0192 a0001c0018t0003g0192	1	272	0.0037	-13	c.-44 others(32): Show c.-44+19754_-44+19766delTTTTTTTTTTTTT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
EXOC4_chr7_133248078_134070761	133604706	CTTTCTTT others(6): Show CTTTCTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02647.hp1 HG03041.hp2 HG01496.hp1 HG02647.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0018 a0001c0001t0003 a0001c0003t0018	a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0003t0018g0058 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0003t0018g0058	3	102	0.0294	-13	c.141 others(34): Show c.1418-25335_1418-25323delCTTTTTTTTTTTT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72209240	AAAAAAAA others(6): Show AAAAAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01168.hp2 HG01169.hp1 others(10): Show HG00735.hp2 HG01168.hp2 HG01169.hp1 HG01515.hp2 HG01516.hp1 HG02486.hp1 HG02622.hp1 HG03139.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp2 NA19010.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0004 a0001c0002t0014 others(1): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0014 a0001c0003t0004	a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 others(10): Show a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0004g0012 a0001c0002t0004g0013 a0001c0002t0004g0014 a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0103 a0001c0002t0004g0104 a0001c0002t0014g0015 a0001c0002t0014g0016 a0001c0003t0004g0094	13	104	0.1250	-13	c.219 others(34): Show c.2197-25066_2197-25054delCTTTTCTTTTTTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	20/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72369878	TTAAATGT others(6): Show TTAAATGTTAGACC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18522.hp1 NA20129.hp2 HG03130.hp1 NA18522.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0009 a0002c0004 a0001c0003 a0001c0009 a0002c0004	a0001c0003t0010 a0001c0009t0005 a0002c0004t0013 a0001c0003t0010 a0001c0009t0005 a0002c0004t0013	a0001c0003t0010g0074 a0001c0009t0005g0021 a0002c0004t0013g0005 a0001c0003t0010g0074 a0001c0009t0005g0021 a0002c0004t0013g0005	3	104	0.0289	-13	c.212 others(32): Show c.2122+9838_2122+9850delGGTCTAACATTTA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	19/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72671903	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	104	0.0096	-13	c.669 others(32): Show c.669+46187_669+46199delTCTTTCTTTCTTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72672552	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG03041.hp1 HG01243.hp2 HG02145.hp1 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0009 a0002c0004t0008 a0001c0002t0009 a0002c0004t0008	a0001c0002t0009g0003 a0002c0004t0008g0002 a0002c0004t0008g0004 a0001c0002t0009g0003 a0002c0004t0008g0002 a0002c0004t0008g0004	3	104	0.0289	-13	c.669 others(32): Show c.669+45538_669+45550delCTTTTTTTTTTTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6_chr10_92843520_93064490	92896179	ATATTTTT others(6): Show ATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0056 a0003c0003t0003g0056	1	288	0.0035	-13	c.412 others(30): Show c.412+1161_412+1173delATTTTTTTTTTTT	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOC6_chr10_92843520_93064490	92896181	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	288	0.0035	-13	c.412 others(30): Show c.412+1185_412+1197delTTTTTTTTTTTTT	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOC6_chr10_92843520_93064490	93005558	GTCACAGA others(6): Show GTCACAGAAATTCT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	288	0.0035	-13	c.209 others(32): Show c.2095+7946_2095+7958delACAGAAATTCTTC	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOSC7_chr3_44971244_45016471	45013446	CCCAGGCT others(6): Show CCCAGGCTGGTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	340	0.0029	-13	c.21 others(24): Show c.2108_*2120delCCAGGCTGGTCTT	EXOSC7	ENSG00000075914.13	transcript	ENST00000265564.8	protein_coding		1976		chr3	TogoVar
EXOSC9_chr4_121796323_121822021	121805793	ATTCTTTT others(6): Show ATTCTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00597.hp1 others(120): Show HG00323.hp2 HG00423.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG01081.hp2 HG01099.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02129.hp2 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02572.hp2 HG02647.hp1 HG02735.hp2 HG02738.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04204.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp1 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19072.hp1 NA19075.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19086.hp1 NA19089.hp1 NA19090.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(28): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0109 a0001c0001t0003g0021 a0001c0001t0006g0002	123	400	0.3075	-13	c.522 others(30): Show c.522+1050_522+1062delCTTTTTTTTTTTT	EXOSC9	ENSG00000123737.13	transcript	ENST00000243498.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
EXPH5_chr11_108500435_108598768	108509374	AGTGTCTA others(6): Show AGTGTCTATATAGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0033 a0033	a0033c0024 a0033c0024	a0033c0024t0027 a0033c0024t0027	a0033c0024t0027g0017 a0033c0024t0027g0017	1	314	0.0032	-13	c.15 others(22): Show c.150_*162delCCTATATAGACAC	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	6/6	150		chr11	TogoVar
EXPH5_chr11_108500435_108598768	108532354	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA20129.hp2 NA18956.hp1 NA20129.hp2	a0004 a0006 a0004 a0006	a0004c0004 a0006c0006 a0004c0004 a0006c0006	a0004c0004t0001 a0006c0006t0001 a0004c0004t0001 a0006c0006t0001	a0004c0004t0001g0149 a0006c0006t0001g0292 a0004c0004t0001g0149 a0006c0006t0001g0292	2	314	0.0064	-13	c.444 others(30): Show c.444-4183_444-4171delATATATATATATA	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	3/5			chr11	TogoVar
EXPH5_chr11_108500435_108598768	108532358	ATATATAT others(6): Show ATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0279 a0006c0006t0002g0279	1	314	0.0032	-13	c.444 others(30): Show c.444-4187_444-4175delAAAAATATATATA	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	3/5			chr11	TogoVar
EXT1_chr8_117789490_118116826	117827784	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0010 a0001c0002t0028g0010	1	190	0.0053	-13	c.128 others(32): Show c.1284+2433_1284+2445delTTTTTTTTTTTTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	4/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117861488	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(8): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG01071.hp2 HG01074.hp2 HG01884.hp1 HG02145.hp1 HG03239.hp2 HG04115.hp1 NA19043.hp1 NA19060.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 others(4): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0046 a0001c0006t0001 a0001c0006t0004 a0001c0006t0009	a0001c0003t0001g0047 a0001c0003t0002g0098 a0001c0003t0002g0106 others(8): Show a0001c0003t0001g0047 a0001c0003t0002g0098 a0001c0003t0002g0106 a0001c0003t0002g0130 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0007g0133 a0001c0003t0046g0094 a0001c0006t0001g0135 a0001c0006t0004g0020 a0001c0006t0009g0074	11	190	0.0579	-13	c.963 others(32): Show c.963-24300_963-24288delAAAAAAAAAAAAA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118002528	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0080 a0001c0002t0003g0080	1	190	0.0053	-13	c.962 others(34): Show c.962+107544_962+107556delAAAAAAAAAAAAA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118090778	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03041.hp2 HG03225.hp1 others(4): Show HG02145.hp1 HG03041.hp2 HG03225.hp1 HG03516.hp2 NA18906.hp1 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0009 a0001c0001t0016 a0001c0001t0018 others(4): Show a0001c0001t0009 a0001c0001t0016 a0001c0001t0018 a0001c0001t0027 a0001c0004t0060 a0001c0006t0004 a0001c0006t0009	a0001c0001t0009g0075 a0001c0001t0016g0076 a0001c0001t0018g0078 others(4): Show a0001c0001t0009g0075 a0001c0001t0016g0076 a0001c0001t0018g0078 a0001c0001t0027g0003 a0001c0004t0060g0165 a0001c0006t0004g0020 a0001c0006t0009g0074	7	190	0.0368	-13	c.962 others(32): Show c.962+19294_962+19306delTTTTTTTTTTTTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT2_chr11_44090678_44256962	44246805	GGTCAGGA others(6): Show GGTCAGGATCATCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0054 a0001c0002t0046g0054	1	334	0.0030	-13	c.25 others(24): Show c.2522_*2534delAGGATCATCTGTC	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	14/14	2522	INFO_REALIGN_3_PRIME	chr11	TogoVar
EXTL2_chr1_100867391_100899842	100898827	ATTTTGTG others(6): Show ATTTTGTGTATTAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	410	0.0024	-13	c.-42 others(24): Show c.-4279_-4267delCTAATACACAAAA	EXTL2	ENSG00000162694.14	transcript	ENST00000370114.8	protein_coding		3986		chr1	TogoVar
EYA1_chr8_71192433_71367069	71346440	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp2 HG02622.hp1 others(3): Show HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp2	a0002 a0002	a0002c0006 a0002c0008 a0002c0006 a0002c0008	a0002c0006t0001 a0002c0006t0003 a0002c0006t0011 others(1): Show a0002c0006t0001 a0002c0006t0003 a0002c0006t0011 a0002c0008t0002	a0002c0006t0001g0029 a0002c0006t0003g0026 a0002c0006t0003g0030 others(3): Show a0002c0006t0001g0029 a0002c0006t0003g0026 a0002c0006t0003g0030 a0002c0006t0011g0027 a0002c0008t0002g0028 a0002c0008t0002g0031	6	232	0.0259	-13	c.124 others(30): Show c.124+8329_124+8341delATATATATATATA	EYA1	ENSG00000104313.20	transcript	ENST00000340726.8	protein_coding	3/17			chr8	TogoVar
EYA2_chr20_46889843_47193844	46908870	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	238	0.0042	-13	c.-11 others(32): Show c.-11+13908_-11+13920delTTTTTTTTTTTTT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47112862	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	238	0.0042	-13	c.888 others(32): Show c.888+15709_888+15721delTTTTTTTTTTTTT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47125047	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02572.hp1 others(18): Show HG02109.hp2 HG02258.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02818.hp1 HG02818.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03710.hp2 HG06807.hp2 NA18522.hp1 NA19043.hp1 NA19240.hp2 NA20300.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0007 a0006c0010	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0003c0007t0001 a0006c0010t0001	a0001c0001t0001g0008 a0001c0001t0001g0035 a0001c0002t0001g0026 others(18): Show a0001c0001t0001g0008 a0001c0001t0001g0035 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0029 a0001c0002t0001g0040 a0001c0002t0001g0065 a0001c0002t0001g0109 a0001c0002t0001g0122 a0001c0002t0001g0153 a0001c0002t0001g0171 a0001c0002t0001g0174 a0001c0002t0001g0236 a0001c0002t0004g0002 a0001c0002t0004g0028 a0001c0002t0004g0156 a0001c0002t0004g0169 a0001c0002t0004g0219 a0001c0003t0001g0238 a0003c0007t0001g0007 a0006c0010t0001g0168	21	238	0.0882	-13	c.889 others(32): Show c.889-18000_889-17988delTTTTTTTTTTTTT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47141219	GATATTAG others(6): Show GATATTAGCCAGGA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01884.hp2 HG02451.hp2 others(18): Show HG00609.hp2 HG01884.hp2 HG02451.hp2 HG03927.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18950.hp1 NA18963.hp2 NA18970.hp2 NA18977.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA19000.hp2 NA19004.hp2 NA19010.hp1 NA19066.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001	a0001c0001t0001g0117 a0001c0001t0002g0084 a0001c0001t0002g0151 others(18): Show a0001c0001t0001g0117 a0001c0001t0002g0084 a0001c0001t0002g0151 a0001c0001t0002g0210 a0001c0001t0003g0051 a0001c0002t0001g0003 a0001c0002t0001g0063 a0001c0002t0001g0126 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0159 a0001c0002t0001g0162 a0001c0002t0001g0179 a0001c0002t0001g0205 a0001c0002t0001g0225 a0001c0003t0001g0080 a0001c0003t0003g0111 a0001c0004t0001g0001 a0001c0004t0001g0076 a0001c0004t0001g0123 a0001c0004t0001g0127	21	238	0.0882	-13	c.889 others(30): Show c.889-1820_889-1808delGCCAGGAATATTA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47185276	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18970.hp1 NA19002.hp1 NA18954.hp2 NA18970.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0135 a0001c0001t0002g0187 a0001c0003t0002g0128 a0001c0001t0002g0135 a0001c0001t0002g0187 a0001c0003t0002g0128	3	238	0.0126	-13	c.153 others(32): Show c.1536+1915_1536+1927delTTTTTTTTTTTTT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA3_chr1_27965344_28093610	27971599	CAACAACA others(6): Show CAACAACAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0032 a0001c0001t0022g0032	1	392	0.0026	-13	c.28 others(24): Show c.2854_*2866delTTTTTTTGTTGTT	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	18/18	2854		chr1	TogoVar
EYA3_chr1_27965344_28093610	28080735	GTTTGATG others(6): Show GTTTGATGGTTCTC	G G	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0248 a0001c0001t0005g0248	1	392	0.0026	-13	c.-69 others(30): Show c.-69+7776_-69+7788delGAGAACCATCAAA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084582	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18993.hp1 NA19000.hp1 others(1): Show HG01192.hp2 NA18993.hp1 NA19000.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009	a0001c0001t0002g0207 a0001c0001t0003g0056 a0001c0001t0009g0208 others(1): Show a0001c0001t0002g0207 a0001c0001t0003g0056 a0001c0001t0009g0208 a0001c0001t0009g0209	4	392	0.0102	-13	c.-69 others(30): Show c.-69+3929_-69+3941delTATATATATATAT	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084583	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02109.hp2 HG03688.hp2 others(3): Show HG00423.hp1 HG02109.hp2 HG03688.hp2 HG04115.hp1 NA18965.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 others(3): Show a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0292 a0001c0001t0008g0200	6	392	0.0153	-13	c.-69 others(30): Show c.-69+3928_-69+3940delATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084585	ATATATAT others(6): Show ATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01168.hp1 HG01169.hp1 others(6): Show HG00639.hp2 HG01168.hp1 HG01169.hp1 HG01884.hp1 HG02257.hp1 HG02630.hp2 HG02976.hp1 NA18953.hp1 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008	a0001c0001t0002g0203 a0001c0001t0002g0249 a0001c0001t0002g0293 others(6): Show a0001c0001t0002g0203 a0001c0001t0002g0249 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0305 a0001c0001t0005g0248 a0001c0001t0008g0250	9	392	0.0230	-13	c.-69 others(30): Show c.-69+3926_-69+3938delAAATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084587	ATATATAT others(6): Show ATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA19079.hp2 NA18978.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0260 a0001c0001t0002g0261	2	392	0.0051	-13	c.-69 others(30): Show c.-69+3924_-69+3936delAAAAATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084589	ATATATAT others(6): Show ATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0007 a0001c0001t0008g0007	1	392	0.0026	-13	c.-69 others(30): Show c.-69+3922_-69+3934delAAAAAAATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA4_chr6_133236357_133537128	133394282	GTGTTTTT others(6): Show GTGTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG01106.hp1 others(13): Show HG00408.hp1 HG00438.hp1 HG01106.hp1 HG02129.hp2 HG03017.hp1 HG03239.hp1 HG03942.hp2 NA18954.hp2 NA18971.hp1 NA18981.hp1 NA18983.hp2 NA18994.hp1 NA19082.hp1 NA19082.hp2 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0031 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005	a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0064 others(13): Show a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0184 a0001c0001t0001g0208 a0001c0001t0001g0258 a0001c0001t0002g0158 a0001c0001t0019g0059 a0001c0001t0031g0203 a0002c0002t0001g0003 a0002c0002t0001g0076 a0002c0002t0002g0080 a0002c0002t0005g0111	16	264	0.0606	-13	c.83+ others(30): Show c.83+11843_83+11855delGTTTTTTTTTTTT	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133394284	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0148 a0002c0002t0009g0148	1	264	0.0038	-13	c.83+ others(30): Show c.83+11865_83+11877delTTTTTTTTTTTTT	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133428911	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0096 a0001c0001t0044g0096	1	264	0.0038	-13	c.84- others(30): Show c.84-17700_84-17688delTTTTTTTTTTTTT	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYS_chr6_63714980_65712226	64613318	TTGAATTA others(6): Show TTGAATTACATGAA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0014 a0014	a0014c0004 a0014c0004	a0014c0004t0002 a0014c0004t0002	a0014c0004t0002g0024 a0014c0004t0002g0024	1	24	0.0417	-13	c.368 others(32): Show c.3684+4087_3684+4099delTTCATGTAATTCA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	24/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65115973	CTATCTAT others(6): Show CTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0015 a0015	a0015c0011 a0015c0011	a0015c0011t0002 a0015c0011t0002	a0015c0011t0002g0018 a0015c0011t0002g0018	1	24	0.0417	-13	c.202 others(34): Show c.2024-58259_2024-58247delAGATAGATAGATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65323631	AAAATATC others(6): Show AAAATATCTCAGTC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp1 HG02630.hp1 HG02809.hp1	a0002 a0011 a0002 a0011	a0002c0008 a0011c0001 a0002c0008 a0011c0001	a0002c0008t0002 a0011c0001t0001 a0002c0008t0002 a0011c0001t0001	a0002c0008t0002g0020 a0011c0001t0001g0013 a0002c0008t0002g0020 a0011c0001t0001g0013	2	24	0.0833	-13	c.176 others(34): Show c.1766+11336_1766+11348delGACTGAGATATTT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	11/42			chr6	TogoVar
EZH1_chr17_42695275_42750040	42738429	TTTATTTG others(6): Show TTTATTTGTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02622.hp2 HG02630.hp2 others(1): Show HG02257.hp1 HG02622.hp2 HG02630.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 others(1): Show a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297	4	334	0.0120	-13	c.-10 others(32): Show c.-103+6569_-103+6581delTAAATACAAATAA	EZH1	ENSG00000108799.13	transcript	ENST00000428826.7	protein_coding	1/20			chr17	TogoVar
EZH2_chr7_148802383_148889291	148846871	TGTGTGTG others(6): Show TGTGTGTGTGTGTA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0377 a0001c0003t0001g0377	1	380	0.0026	-13	c.118 others(28): Show c.118-286_118-274delTACACACACACAC	EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding	2/19			chr7	TogoVar
EZR_chr6_158760748_158824368	158774666	TCATCAAA others(6): Show TCATCAAACACACA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03834.hp1 NA20905.hp1 HG03239.hp2 HG03834.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0196 a0001c0001t0002g0005 a0001c0001t0002g0196	3	312	0.0096	-13	c.795 others(30): Show c.795+1729_795+1741delTGTGTGTTTGATG	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	8/13			chr6	TogoVar
EZR_chr6_158760748_158824368	158805337	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	312	0.0032	-13	c.12+ others(30): Show c.12+12732_12+12744delTTTTTTTTTTTTT	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar
F10_chr13_113117799_113154529	113153428	CAGGCCTT others(6): Show CAGGCCTTGCTGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp2 HG03516.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0095 a0001c0001t0001g0061 a0001c0001t0001g0095	2	412	0.0049	-13	c.39 others(24): Show c.3912_*3924delAGGCCTTGCTGGG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		3900		chr13	TogoVar

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