Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ESRRG_chr1_216498251_216728429	216569190	G G	GGGAAGGG others(43): Show GGGAAGGGAAGGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA A	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0214 a0001c0002t0001g0214	1	286	0.0035	50	c.590 others(67): Show c.590-1093_590-1092insTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCCTTCCCTTCC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216569237	G G	GAAAGGAA others(43): Show GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0207 a0001c0002t0002g0207	1	286	0.0035	50	c.590 others(67): Show c.590-1140_590-1139insTCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTT	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ESYT2_chr7_158725997_158834509	158782419	A A	AGAACAAA others(43): Show AGAACAAAGTGAGGTGTGAGTGTAAGAACGAGAACGTGAGTGAACGAGTG T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0327 a0003c0003t0007g0327	1	370	0.0027	50	c.747 others(67): Show c.747+5584_747+5585insACACTCGTTCACTCACGTTCTCGTTCTT ACACTCACACCTCACTTTGTTC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	6/22			chr7	TogoVar
ETS1_chr11_128453765_128592558	128548132	A A	AAAGGAAA others(43): Show AAAGGAAAGGAAAGGAAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG G	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA18960.hp1 HG01515.hp2 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0087 a0001c0002t0003g0196 a0001c0002t0002g0087 a0001c0002t0003g0196	2	286	0.0070	50	c.214 others(67): Show c.214+8158_214+8159insCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTTCCTTTCCTTTCCTT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	3/9			chr11	TogoVar
ETS1_chr11_128453765_128592558	128548132	A A	AAAGGGAA others(43): Show AAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01934.hp2 others(11): Show HG01243.hp1 HG01243.hp2 HG01934.hp2 HG02015.hp2 HG02129.hp2 HG02486.hp2 HG02886.hp1 HG02965.hp1 HG03098.hp2 HG03195.hp1 HG04184.hp1 NA18953.hp1 NA18969.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0034 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007	a0001c0001t0001g0243 a0001c0001t0001g0260 a0001c0001t0001g0268 others(11): Show a0001c0001t0001g0243 a0001c0001t0001g0260 a0001c0001t0001g0268 a0001c0001t0003g0250 a0001c0001t0006g0217 a0001c0001t0015g0046 a0001c0001t0017g0070 a0001c0001t0019g0161 a0001c0001t0034g0247 a0001c0002t0001g0047 a0001c0002t0001g0215 a0001c0002t0001g0246 a0001c0002t0003g0018 a0001c0002t0007g0048	14	286	0.0490	50	c.214 others(67): Show c.214+8158_214+8159insCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	3/9			chr11	TogoVar
EVPLL_chr17_18372778_18394647	18373800	C C	CAAAAAAA others(43): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0005 a0001c0003t0002g0005	1	408	0.0025	50	c.-42 others(61): Show c.-4220_-4219insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	EVPLL	ENSG00000214860.5	transcript	ENST00000399134.5	protein_coding		3977		chr17	TogoVar
EXD3_chr9_137301896_137428162	137328783	T T	TACACGGG others(43): Show TACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACGGGGT C	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	82	0.0122	50	c.199 others(69): Show c.1999-4641_1999-4640insGACCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCCGTGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXOC2_chr6_480154_698139	501159	A A	ATATACAT others(43): Show ATATACATATATATCTATATATTATATATATCTATATATATTATATATAT C	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19075.hp1 NA19002.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0001 a0001c0001t0010 a0001c0002t0001	a0001c0001t0010g0144 a0001c0002t0001g0030 a0001c0001t0010g0144 a0001c0002t0001g0030	2	272	0.0074	50	c.238 others(69): Show c.2381-1460_2381-1459insGATATATATAATATATATAGATATAT ATAATATATAGATATATATGTATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501566	A A	ATATATAT others(43): Show ATATATATTATATATATCTATATATATTATATATAATATATAGATATATA T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02258.hp1 HG02976.hp1 others(4): Show HG02135.hp2 HG02258.hp1 HG02976.hp1 HG03471.hp1 NA18747.hp2 NA19240.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0014 a0001c0001 a0001c0002 a0004c0014	a0001c0001t0002 a0001c0001t0019 a0001c0002t0010 others(1): Show a0001c0001t0002 a0001c0001t0019 a0001c0002t0010 a0004c0014t0003	a0001c0001t0002g0183 a0001c0001t0002g0229 a0001c0001t0002g0235 others(4): Show a0001c0001t0002g0183 a0001c0001t0002g0229 a0001c0001t0002g0235 a0001c0001t0019g0090 a0001c0002t0010g0035 a0001c0002t0010g0248 a0004c0014t0003g0218	7	272	0.0257	50	c.238 others(69): Show c.2381-1867_2381-1866insATATATATCTATATATTATATATAAT ATATATAGATATATATAATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501566	A A	ATATATAT others(43): Show ATATATATTATATATATCTATATATATTATATATATTATATAGATATATA T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0150 a0001c0001t0007g0150	1	272	0.0037	50	c.238 others(69): Show c.2381-1867_2381-1866insATATATATCTATATAATATATATAAT ATATATAGATATATATAATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519372	C C	CCACCCAC others(43): Show CCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCA A	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA21309.hp1 HG03516.hp2 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0161 a0001c0003t0003g0169 a0001c0003t0003g0161 a0001c0003t0003g0169	2	272	0.0074	50	c.238 others(71): Show c.2380+13096_2380+13097insTTGGTTCTCGTCTCCGAGTGTGGA CGGTGAGTGTCGGCGCTCGGTGGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519422	C C	CCACCCAC others(43): Show CCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCA A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0029 a0001c0003t0016g0029	1	272	0.0037	50	c.238 others(71): Show c.2380+13046_2380+13047insTTGGTTCTCGTCTCCGAGTGTGGA CGGTGAGTGTCGGCGCTCGGTGGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519522	C C	CCACCCAC others(43): Show CCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCA A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0196 a0001c0007t0002g0196	1	272	0.0037	50	c.238 others(71): Show c.2380+12946_2380+12947insTTGGTTCTCGTCTCCGAGTGTGGA CGGTGAGTGTCGGCGCTCGGTGGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519538	G G	GACACTCA others(43): Show GACACTCACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCC T	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02132.hp2 NA18612.hp1 others(7): Show HG02083.hp2 HG02132.hp2 NA18612.hp1 NA18955.hp1 NA18968.hp2 NA18973.hp2 NA18980.hp2 NA18981.hp2 NA19004.hp2 NA19085.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0004 a0007c0012 a0001c0002 a0001c0004 a0007c0012	a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0002t0020 a0001c0004t0001 a0007c0012t0001	a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0073 others(7): Show a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0073 a0001c0002t0001g0139 a0001c0002t0001g0253 a0001c0002t0002g0118 a0001c0002t0012g0039 a0001c0002t0020g0036 a0001c0004t0001g0213 a0007c0012t0001g0094	10	272	0.0368	50	c.238 others(71): Show c.2380+12930_2380+12931insAGGCGCTCGGTGCGTGGTGGTTCT CGTCTCCGAGTGTGGACGGTGAGTGT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519572	C C	CCACCCAC others(43): Show CCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCA A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02965.hp2 HG02970.hp1 others(2): Show HG02630.hp1 HG02965.hp2 HG02970.hp1 NA18971.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 others(1): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001	a0001c0001t0006g0033 a0001c0001t0007g0150 a0001c0001t0009g0107 others(2): Show a0001c0001t0006g0033 a0001c0001t0007g0150 a0001c0001t0009g0107 a0001c0001t0009g0112 a0001c0002t0001g0056	5	272	0.0184	50	c.238 others(71): Show c.2380+12896_2380+12897insTTGGTTCTCGTCTCCGAGTGTGGA CGGTGAGTGTCGGCGCTCGGTGGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519576	G G	GCACCGAG others(43): Show GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0137	1	272	0.0037	50	c.238 others(71): Show c.2380+12892_2380+12893insGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519576	G G	GCACCGAG others(43): Show GCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	272	0.0037	50	c.238 others(71): Show c.2380+12892_2380+12893insGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519622	C C	CCACCCAC others(43): Show CCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCA A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0200 a0001c0020t0001g0200	1	272	0.0037	50	c.238 others(71): Show c.2380+12846_2380+12847insTTGGTTCTCGTCTCCGAGTGTGGA CGGTGAGTGTCGGCGCTCGGTGGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519672	C C	CCACCCAC others(43): Show CCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCA A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0150 a0001c0001t0007g0150	1	272	0.0037	50	c.238 others(71): Show c.2380+12796_2380+12797insTTGGTTCTCGTCTCCGAGTGTGGA CGGTGAGTGTCGGCGCTCGGTGGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519722	C C	CCACCCAC others(43): Show CCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCA A	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	272	0.0037	50	c.238 others(71): Show c.2380+12746_2380+12747insTTGGTTCTCGTCTCCGAGTGTGGA CGGTGAGTGTCGGCGCTCGGTGGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519772	C C	CCACCCAC others(43): Show CCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCA A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02027.hp2 HG02523.hp1 others(8): Show HG02015.hp1 HG02027.hp2 HG02523.hp1 NA18946.hp2 NA18947.hp1 NA18973.hp1 NA18992.hp1 NA19055.hp2 NA19072.hp1 NA19074.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0002t0004 a0001c0003t0001 a0001c0003t0006	a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0109 others(8): Show a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0142 a0001c0001t0005g0027 a0001c0001t0006g0093 a0001c0001t0015g0019 a0001c0002t0004g0009 a0001c0003t0001g0206 a0001c0003t0006g0209	11	272	0.0404	50	c.238 others(71): Show c.2380+12696_2380+12697insTTGGTTCTCGTCTCCGAGTGTGGA CGGTGAGTGTCGGCGCTCGGTGGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519776	G G	GCACCGAG others(43): Show GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03927.hp1 homoSapiens_chm13v2.hp1 HG01081.hp2 HG03927.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0040 a0001c0001t0001g0121 a0001c0001t0023g0119 a0001c0001t0001g0040 a0001c0001t0001g0121 a0001c0001t0023g0119	3	272	0.0110	50	c.238 others(71): Show c.2380+12692_2380+12693insGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519826	G G	GCACCGAG others(43): Show GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01517.hp2 HG03017.hp2 others(3): Show HG00140.hp1 HG01517.hp2 HG03017.hp2 HG03704.hp1 NA18955.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0026	a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0003g0259 others(3): Show a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0003g0259 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0026g0269	6	272	0.0221	50	c.238 others(71): Show c.2380+12593_2380+12642dupGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519876	C C	CCACCGAG others(43): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0020 a0001c0003t0002g0020	1	272	0.0037	50	c.238 others(71): Show c.2380+12592_2380+12593insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519926	C C	CCACCGAG others(43): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	272	0.0037	50	c.238 others(71): Show c.2380+12542_2380+12543insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519976	C C	CCACCGAG others(43): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0198	1	272	0.0037	50	c.238 others(71): Show c.2380+12492_2380+12493insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520126	C C	CCACCGAG others(43): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02080.hp2 HG03041.hp2 others(7): Show HG01952.hp2 HG02080.hp2 HG03041.hp2 HG06807.hp1 NA18612.hp1 NA18955.hp1 NA18971.hp2 NA18973.hp2 NA18983.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0006 a0001c0002t0012 a0001c0003t0002 a0001c0003t0016 a0001c0004t0005	a0001c0001t0001g0063 a0001c0001t0003g0067 a0001c0002t0001g0073 others(7): Show a0001c0001t0001g0063 a0001c0001t0003g0067 a0001c0002t0001g0073 a0001c0002t0001g0253 a0001c0002t0006g0132 a0001c0002t0012g0039 a0001c0002t0012g0044 a0001c0003t0002g0020 a0001c0003t0016g0029 a0001c0004t0005g0224	10	272	0.0368	50	c.238 others(71): Show c.2380+12342_2380+12343insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520172	C C	CCACCCAC others(43): Show CCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCA A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0207 a0001c0003t0001g0207	1	272	0.0037	50	c.238 others(71): Show c.2380+12296_2380+12297insTTGGTTCTCGTCTCCGAGTGTGGA CGGTGAGTGTCGGCGCTCGGTGGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520226	C C	CCACCGAG others(43): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0093 a0001c0001t0006g0093	1	272	0.0037	50	c.238 others(71): Show c.2380+12242_2380+12243insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520238	G G	GACACTCA others(43): Show GACACTCACCGTCCACACTCGGAGACGAGAACCAACACCCACCGAGCGCC T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0170 a0001c0003t0003g0170	1	272	0.0037	50	c.238 others(71): Show c.2380+12230_2380+12231insAGGCGCTCGGTGGGTGTTGGTTCT CGTCTCCGAGTGTGGACGGTGAGTGT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520288	G G	GACACTCA others(43): Show GACACTCACCGTCCACACTCGGAGACGAGAACCAACACCCACCGAGCGCC T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	272	0.0037	50	c.238 others(71): Show c.2380+12180_2380+12181insAGGCGCTCGGTGGGTGTTGGTTCT CGTCTCCGAGTGTGGACGGTGAGTGT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520326	C C	CCACCGAG others(43): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0029 a0001c0003t0016g0029	1	272	0.0037	50	c.238 others(71): Show c.2380+12142_2380+12143insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520372	C C	CCACCCAC others(43): Show CCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCA A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	272	0.0037	50	c.238 others(71): Show c.2380+12096_2380+12097insTTGGTTCTCGTCTCCGAGTGTGGA CGGTGAGTGTCGGCGCTCGGTGGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520376	C C	CCACCGAG others(43): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18973.hp2 NA18612.hp1 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0253 a0001c0002t0001g0073 a0001c0002t0001g0253	2	272	0.0074	50	c.238 others(71): Show c.2380+12092_2380+12093insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520422	C C	CCACCCAC others(43): Show CCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCA A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0196 a0001c0007t0002g0196	1	272	0.0037	50	c.238 others(71): Show c.2380+12046_2380+12047insTTGGTTCTCGTCTCCGAGTGTGGA CGGTGAGTGTCGGCGCTCGGTGGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520426	C C	CCACCGAG others(43): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02132.hp2 NA18980.hp2 others(1): Show HG02083.hp2 HG02132.hp2 NA18980.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0020	a0001c0002t0001g0065 a0001c0002t0001g0139 a0001c0002t0002g0118 others(1): Show a0001c0002t0001g0065 a0001c0002t0001g0139 a0001c0002t0002g0118 a0001c0002t0020g0036	4	272	0.0147	50	c.238 others(71): Show c.2380+12042_2380+12043insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520576	C C	CCACCGAG others(43): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01517.hp1 HG00323.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0018 a0001c0003t0001 a0001c0001t0018 a0001c0003t0001	a0001c0001t0018g0083 a0001c0003t0001g0207 a0001c0001t0018g0083 a0001c0003t0001g0207	2	272	0.0074	50	c.238 others(71): Show c.2380+11892_2380+11893insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520676	C C	CCACCGAG others(43): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02132.hp2 NA18955.hp1 others(3): Show HG02083.hp2 HG02132.hp2 NA18955.hp1 NA18980.hp2 NA18983.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0002t0020	a0001c0002t0001g0065 a0001c0002t0001g0139 a0001c0002t0002g0118 others(3): Show a0001c0002t0001g0065 a0001c0002t0001g0139 a0001c0002t0002g0118 a0001c0002t0012g0039 a0001c0002t0012g0044 a0001c0002t0020g0036	6	272	0.0221	50	c.238 others(71): Show c.2380+11792_2380+11793insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520759	G G	GAGATGAA others(43): Show GAGATGAAAACCACCACCTATTGAGTGCCAACAATCACCGTCCACACTCG T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0160 a0001c0001t0024g0160	1	272	0.0037	50	c.238 others(71): Show c.2380+11709_2380+11710insACGAGTGTGGACGGTGATTGTTGG CACTCAATAGGTGGTGGTTTTCATCT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520874	A A	ACCCACCG others(43): Show ACCCACCGAGCCCCGATACTCACCGTCCACACTCGGAGATGAAAACAACC G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0043 a0001c0002t0003g0043	1	272	0.0037	50	c.238 others(71): Show c.2380+11594_2380+11595insCGGTTGTTTTCATCTCCGAGTGTG GACGGTGAGTATCGGGGCTCGGTGGG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	658629	A A	AATATATA others(43): Show AATATATATATATATTTTATATATATATATATATATATATATATATTTTA T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0172 a0005c0016t0001g0172	1	272	0.0037	50	c.-43 others(69): Show c.-43-20769_-43-20768insATAAAATATATATATATATATATATA TATATATAAAATATATATATATAT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
EXOC3L2_chr19_45207370_45250407	45229188	A A	AATTAAAT others(43): Show AATTAAATATATACATATATTTATGTATTAAATATATACATATATTTATG T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp1 HG02809.hp2 others(8): Show HG00639.hp1 HG01243.hp1 HG02809.hp2 HG03486.hp2 HG03579.hp2 HG03688.hp1 HG03834.hp2 NA18940.hp2 NA18942.hp1 NA18966.hp2 NA19043.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0003c0004 a0003c0015 a0004c0020	a0001c0001t0001 a0001c0001t0004 a0001c0002t0004 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0004 a0001c0002t0008 a0001c0007t0001 a0003c0004t0003 a0003c0015t0001 a0004c0020t0004	a0001c0001t0001g0089 a0001c0001t0001g0172 a0001c0001t0001g0240 others(8): Show a0001c0001t0001g0089 a0001c0001t0001g0172 a0001c0001t0001g0240 a0001c0001t0001g0264 a0001c0001t0004g0333 a0001c0002t0004g0111 a0001c0002t0008g0290 a0001c0007t0001g0136 a0003c0004t0003g0332 a0003c0015t0001g0328 a0004c0020t0004g0305	11	356	0.0309	50	c.127 others(67): Show c.1270-972_1270-923dupACATAAATATATGTATATATTTAATACA TAAATATATGTATATATTTAAT	EXOC3L2	ENSG00000283632.4	transcript	ENST00000413988.3	protein_coding	4/11			chr19	TogoVar
EXOC4_chr7_133248078_134070761	133558189	C C	CTCTTTTC others(43): Show CTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTTCTTTTCTTTTCTT T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0074	1	102	0.0098	50	c.141 others(71): Show c.1418-71825_1418-71824insTTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72353349	G G	GTTGTATT others(43): Show GTTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGT A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG02818.hp1 others(6): Show HG00642.hp2 HG00735.hp1 HG02818.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0002c0004t0008	a0001c0001t0001g0026 a0001c0001t0002g0030 a0001c0001t0003g0029 others(6): Show a0001c0001t0001g0026 a0001c0001t0002g0030 a0001c0001t0003g0029 a0001c0001t0003g0041 a0001c0001t0006g0055 a0001c0001t0007g0042 a0001c0001t0007g0044 a0001c0001t0012g0052 a0002c0004t0008g0002	9	104	0.0865	50	c.212 others(71): Show c.2123-18330_2123-18329insTACAATACAATACAATACAATACA ATACAATACAATACAATACAATACAA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	19/21			chr2	TogoVar
EXT1_chr8_117789490_118116826	117973886	G G	GAAAGGAA others(43): Show GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0076 a0001c0001t0016g0076	1	190	0.0053	50	c.962 others(71): Show c.962+136198_962+136199insTCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0161	1	238	0.0042	50	c.-10 others(67): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTCTCTCTATAT ATATATATATATATATATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0158	1	238	0.0042	50	c.-10 others(67): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTCTCTCTCTAT ATATATATATATATATATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47057147	A A	AAGAAAGG others(43): Show AAGAAAGGAAGGAGGGAGGGAGGGAGGGAAGGAAGAAGACAGGAAGGAGG G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0024 a0001c0012t0001g0024	1	238	0.0042	50	c.416 others(69): Show c.416-15036_416-15035insAAAGGAAGGAGGGAGGGAGGGAGGGA AGGAAGAAGACAGGAAGGAGGGAG	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYS_chr6_63714980_65712226	64151317	T T	TTATATAT others(43): Show TTATATATATATATATATATATATATATTTATATATATATATATATATTT A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0011 a0011	a0011c0001 a0011c0001	a0011c0001t0001 a0011c0001t0001	a0011c0001t0001g0013 a0011c0001t0001g0013	1	24	0.0417	50	c.642 others(71): Show c.6425-69316_6425-69315insTAAATATATATATATATATATAAA TATATATATATATATATATATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	31/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64151321	A A	ATATATAT others(43): Show ATATATATATATATATATATATATTTATATATATATATATATATATATAT T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0014 a0014	a0014c0004 a0014c0004	a0014c0004t0002 a0014c0004t0002	a0014c0004t0002g0024 a0014c0004t0002g0024	1	24	0.0417	50	c.642 others(71): Show c.6425-69320_6425-69319insAATATATATATATATATATATATA TAAATATATATATATATATATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	31/42			chr6	TogoVar

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