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
EXOC4_chr7_133248078_134070761	133855120	T T	TATATAAA others(21): Show TATATAAATATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02976.hp1 HG02280.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0019 a0001c0004t0004 a0001c0001t0019 a0001c0004t0004	a0001c0001t0019g0085 a0001c0004t0004g0037 a0001c0001t0019g0085 a0001c0004t0004g0037	2	98	0.0204	28	c.173 others(49): Show c.1734+37581_1734+37582insAATATATATATAAATATATATAAA TATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857148	G G	GTATATAT others(21): Show GTATATATATATACACATACACGTATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0024 a0001c0005t0012g0024	1	41	0.0244	28	c.173 others(49): Show c.1735-38439_1735-38438insCACATACACGTATATATATATATA TATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133941821	T T	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	48	0.0208	28	c.220 others(47): Show c.2206+3755_2206+3782dupTCTCTCTCTCTCTCTCTCTCTCTCTC TC	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72767808	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0012 a0001c0001t0008g0012	1	11	0.0909	28	c.114 others(47): Show c.114-26340_114-26339insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	1/21			chr2	TogoVar
EXOSC10_chr1_11061618_11104869	11069244	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02056.hp2 HG04228.hp1 others(4): Show HG00609.hp1 HG02056.hp2 HG04228.hp1 NA18941.hp2 NA18966.hp1 NA18988.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0077 others(4): Show a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0171 a0001c0009t0001g0096 a0001c0009t0001g0097 a0001c0009t0001g0144	7	147	0.0476	28	c.248 others(45): Show c.2488+314_2488+315insTCTCTCTCTCTCTCTCACACACACACAC	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	22/24			chr1	TogoVar
EXOSC10_chr1_11061618_11104869	11069244	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	141	0.0071	28	c.248 others(45): Show c.2488+314_2488+315insTCTCTCTCTCTCTCACACACACACACAC	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	22/24			chr1	TogoVar
EXT1_chr8_117789490_118116826	117858840	G G	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	185	0.0054	28	c.963 others(47): Show c.963-21640_963-21639insTTTCTTTCTTTCTTTCTTTCTTTCTT TC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117973930	C C	CAAGGAAG others(21): Show CAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0085 a0001c0002t0010g0085	1	54	0.0185	28	c.962 others(49): Show c.962+136127_962+136154dupCCTTCCTTCCTTCCTTCCTTCCTT CCTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118113695	C C	CTCTCTCT others(21): Show CTCTCTCTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0116 a0001c0001t0003g0116	1	40	0.0250	28	c.-26 others(39): Show c.-2650_-2649insTATATATATATATATATATATAGAGAGA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding		1870		chr8	TogoVar
EXT2_chr11_44090678_44256962	44119124	T T	TTTTATAT others(21): Show TTTTATATATGTATATGTATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18522.hp1 HG03453.hp2 NA18522.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0019 a0002c0005t0019	a0002c0005t0019g0236 a0002c0005t0019g0239 a0002c0005t0019g0236 a0002c0005t0019g0239	2	221	0.0090	28	c.743 others(45): Show c.743+4824_743+4825insTTATATATGTATATGTATATATATATAT	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EXT2_chr11_44090678_44256962	44119169	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA18942.hp2 NA18987.hp2 others(1): Show HG01255.hp2 NA18942.hp2 NA18987.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0004 a0001c0002t0017 others(1): Show a0001c0001t0005 a0001c0002t0004 a0001c0002t0017 a0001c0002t0040	a0001c0001t0005g0281 a0001c0002t0004g0039 a0001c0002t0017g0034 others(1): Show a0001c0001t0005g0281 a0001c0002t0004g0039 a0001c0002t0017g0034 a0001c0002t0040g0025	4	152	0.0263	28	c.743 others(45): Show c.743+4869_743+4870insTATATATATATATATATATATATACACA	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EXTL1_chr1_26016775_26041464	26027693	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03017.hp1 HG01257.hp2 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0034 a0002c0002t0003g0034	2	336	0.0060	28	c.780 others(45): Show c.780-1485_780-1484insAAAAAAAAAAAAGAAAAAAAAAAAAAAA	EXTL1	ENSG00000158008.10	transcript	ENST00000374280.4	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EYA1_chr8_71192433_71367069	71207751	G G	GAAAACAC others(21): Show GAAAACACAAATATCAGAGTTTATTATCA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0126 a0001c0005t0001g0126	1	230	0.0043	28	c.169 others(47): Show c.1698+3377_1698+3404dupTGATAATAAACTCTGATATTTGTGTT TT	EYA1	ENSG00000104313.20	transcript	ENST00000340726.8	protein_coding	17/17			chr8	TogoVar
EYA2_chr20_46889843_47193844	46987916	G G	GACACTCT others(21): Show GACACTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0198 a0001c0003t0002g0198	1	142	0.0070	28	c.-10 others(45): Show c.-10-2085_-10-2084insACACTCTCTCTCTCTCTCTCTCTCTCTC	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15			chr20	TogoVar
EYA2_chr20_46889843_47193844	46987916	G G	GACTCACT others(21): Show GACTCACTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0119	1	142	0.0070	28	c.-10 others(45): Show c.-10-2085_-10-2084insACTCACTCTCTCTCTCTCTCTCTCTCTC	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15			chr20	TogoVar
EYA2_chr20_46889843_47193844	46987916	G G	GACTCTCT others(21): Show GACTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	142	0.0070	28	c.-10 others(45): Show c.-10-2085_-10-2084insACTCTCTCTCTCTCTCTCTCTCTCTCTC	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15			chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0171	1	100	0.0100	28	c.-10 others(45): Show c.-10-2036_-10-2035insCTCTCTCTCTATATATATATATATATAT	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(21): Show CTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	100	0.0100	28	c.-10 others(45): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTATATATATATATAT	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(21): Show CTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0028 a0001c0012t0001g0028	1	100	0.0100	28	c.-10 others(45): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTATATATATATAT	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(21): Show CTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0077	1	100	0.0100	28	c.-10 others(45): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTATATATATAT	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(21): Show CTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	100	0.0100	28	c.-10 others(45): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTCTCTATATAT	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(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	100	0.0100	28	c.-10 others(45): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTCTCTCTATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47057139	G G	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0127	1	79	0.0127	28	c.416 others(47): Show c.416-15028_416-15001dupGGAAGGAAGGAAGGAAGGAAGGAAGG AA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47148058	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03041.hp2 HG02897.hp1 HG03041.hp2	a0004 a0004	a0004c0008 a0004c0011 a0004c0008 a0004c0011	a0004c0008t0001 a0004c0011t0001 a0004c0008t0001 a0004c0011t0001	a0004c0008t0001g0147 a0004c0011t0001g0099 a0004c0008t0001g0147 a0004c0011t0001g0099	2	197	0.0102	28	c.978 others(45): Show c.978+4925_978+4926insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47182628	T T	TCAAAAAA others(21): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02615.hp2 HG01358.hp1 HG02615.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0010 a0001c0002 a0006c0010	a0001c0002t0001 a0006c0010t0001 a0001c0002t0001 a0006c0010t0001	a0001c0002t0001g0072 a0006c0010t0001g0168 a0001c0002t0001g0072 a0006c0010t0001g0168	2	69	0.0290	28	c.143 others(45): Show c.1436-663_1436-662insCAAAAAAAAAAAAAAAAAAAAAAAAAAA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	14/15			chr20	TogoVar
EYA3_chr1_27965344_28093610	28073103	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0336 a0001c0001t0004g0336	1	346	0.0029	28	c.-68 others(47): Show c.-68-15010_-68-15009insTATATATATATATATATATATATATA TA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	98	0.0102	28	c.-68 others(47): Show c.-68-15034_-68-15033insAAAATATATATATATATATATATATA TA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG04204.hp1 others(2): Show HG01515.hp1 HG01517.hp1 HG04204.hp1 NA19000.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0257 a0001c0001t0003g0013 a0001c0001t0003g0014 others(2): Show a0001c0001t0001g0257 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0017 a0001c0001t0003g0055	5	102	0.0490	28	c.-68 others(47): Show c.-68-15034_-68-15033insAAAAAATATATATATATATATATATA TA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03098.hp1 HG00642.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0022 a0001c0001t0003g0016 a0001c0001t0003g0022	2	99	0.0202	28	c.-68 others(47): Show c.-68-15034_-68-15033insAAAAAAAATATATATATATATATATA TA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA4_chr6_133236357_133537128	133273097	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0124 a0002c0002t0003g0124	1	166	0.0060	28	c.-65 others(45): Show c.-65-1599_-65-1598insTATATATATATATATATATATATATATA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYS_chr6_63714980_65712226	65271128	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0006 a0001c0019t0001g0006	1	6	0.1667	28	c.202 others(49): Show c.2023+24734_2023+24735insTATATATATATATATATATATATA TATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65338287	A A	AAATTTTA others(21): Show AAATTTTATACATATATAAAATTACACAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp1 HG02630.hp1 HG02809.hp1	a0003 a0008 a0003 a0008	a0003c0008 a0008c0001 a0003c0008 a0008c0001	a0003c0008t0002 a0008c0001t0001 a0003c0008t0002 a0008c0001t0001	a0003c0008t0002g0020 a0008c0001t0001g0013 a0003c0008t0002g0020 a0008c0001t0001g0013	2	24	0.0833	28	c.160 others(47): Show c.1600-3142_1600-3141insATGTGTAATTTTATATATGTATAAAA TT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	10/42			chr6	TogoVar
EZH2_chr7_148802383_148889291	148839053	T T	TAAGGAAG others(21): Show TAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	30	0.0333	28	c.247 others(45): Show c.247-6331_247-6304dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT	EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding	3/19			chr7	TogoVar
EZHIP_chrX_51401948_51413843	51409476	G G	GGGGTGTG others(21): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18949.hp2 NA18961.hp1 others(4): Show NA18945.hp1 NA18949.hp2 NA18961.hp1 NA18963.hp1 NA18975.hp1 NA18980.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	7	231	0.0303	28	c.94 others(37): Show c.948_*949insGGGTGTGTGTGTGTGTGTGTGTGTGTGT	EZHIP	ENSG00000187690.4	transcript	ENST00000342995.4	protein_coding		634		chrX	TogoVar
EZHIP_chrX_51401948_51413843	51409476	G G	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG02145.hp1 others(4): Show HG01243.hp1 HG02109.hp2 HG02145.hp1 HG02895.hp1 HG02897.hp2 HG03225.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000	7	231	0.0303	28	c.94 others(37): Show c.948_*949insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	EZHIP	ENSG00000187690.4	transcript	ENST00000342995.4	protein_coding		634		chrX	TogoVar
F13A1_chr6_6139084_6325662	6210324	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG03139.hp2 others(8): Show HG00408.hp2 HG00597.hp2 HG03139.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp2 NA18906.hp1 NA18941.hp2 NA18974.hp2 NA19065.hp1 NA20752.hp2	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0001 a0001c0006 a0003c0003 others(2): Show a0001c0001 a0001c0006 a0003c0003 a0003c0015 a0014c0027	a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 a0003c0003t0005 a0003c0015t0002 a0014c0027t0003	a0001c0001t0001g0147 a0001c0001t0001g0180 a0001c0001t0001g0234 others(8): Show a0001c0001t0001g0147 a0001c0001t0001g0180 a0001c0001t0001g0234 a0001c0001t0001g0265 a0001c0001t0002g0095 a0001c0001t0002g0102 a0001c0001t0002g0175 a0001c0006t0002g0253 a0003c0003t0005g0085 a0003c0015t0002g0286 a0014c0027t0003g0112	11	110	0.1000	28	c.111 others(49): Show c.1112+11708_1112+11709insATATATATATATATATATATATAT ATAT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	8/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6238715	C C	CATATATA others(21): Show CATATATATATATATATATATATGTATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0277 a0002c0002t0004g0277	1	154	0.0065	28	c.798 others(45): Show c.798+9596_798+9597insATATACATATATATATATATATATATAT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	6/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6321373	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	118	0.0085	28	c.-80 others(37): Show c.-806_-805insAAGAAAGAAAGAAAGAAAGAAAGAAAGA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding		712		chr6	TogoVar
F2_chr11_46714213_46744506	46721350	G G	GTGGACGA others(21): Show GTGGACGAGTGCACTAGTCGATTCTAGGC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0055 a0001c0004t0001g0055	1	348	0.0029	28	c.316 others(43): Show c.316+511_316+512insGGACGAGTGCACTAGTCGATTCTAGGCT	F2	ENSG00000180210.15	transcript	ENST00000311907.10	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
F7_chr13_113100791_113125685	113105038	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0068 a0002c0002t0003g0068	1	367	0.0027	28	c.-80 others(37): Show c.-804_-803insATATATATATATATATATATATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		752		chr13	TogoVar
F8A2_chrX_155377095_155388801	155384120	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	22	0.0455	28	c.89 others(37): Show c.890_*891insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	F8A2	ENSG00000288709.1	transcript	ENST00000369505.5	protein_coding		320		chrX	TogoVar
FA2H_chr16_74707969_74779820	74741808	A A	ATATATAT others(21): Show ATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0192 a0001c0002t0001g0192	1	204	0.0049	28	c.271 others(45): Show c.271-1694_271-1693insCACACATATATATATATATATATATATA	FA2H	ENSG00000103089.9	transcript	ENST00000219368.8	protein_coding	1/6			chr16	TogoVar
FAAH2_chrX_57281706_57494193	57306990	C C	CAGATATA others(21): Show CAGATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19064.hp2 NA18952.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0021 a0001c0001t0001g0022	2	273	0.0073	28	c.276 others(45): Show c.276-3602_276-3601insGATATATATATATATATATATATATATA	FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAAH2_chrX_57281706_57494193	57306994	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp1 HG00733.hp2 others(25): Show HG00140.hp1 HG00733.hp1 HG00733.hp2 HG01106.hp1 HG01109.hp1 HG01192.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01975.hp1 HG01975.hp2 HG02004.hp2 HG02083.hp1 HG02523.hp1 HG02683.hp1 HG02735.hp1 HG03017.hp1 HG03239.hp2 HG03490.hp1 HG03942.hp1 HG04115.hp1 HG06807.hp1 NA18953.hp1 NA18962.hp1 NA18973.hp1 NA18973.hp2 NA18982.hp1 NA19084.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0002t0002 a0003c0005t0001 a0001c0001t0001 a0001c0002t0002 a0003c0005t0001	a0001c0001t0001g0016 a0001c0001t0001g0040 a0001c0001t0001g0041 others(25): Show a0001c0001t0001g0016 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0089 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0131 a0001c0001t0001g0277 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0127 a0001c0002t0002g0157 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0198 a0001c0002t0002g0257 a0001c0002t0002g0281 a0003c0005t0001g0010	28	58	0.4828	28	c.276 others(45): Show c.276-3596_276-3595insTATATATATATATATATATATATATATA	FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAAH2_chrX_57281706_57494193	57307016	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	280	0.0036	28	c.276 others(45): Show c.276-3576_276-3575insTATATATATATATATATATATATATAGA	FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
FABP7_chr6_122774716_122789074	122777845	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 NA18949.hp2 NA18957.hp1 others(3): Show HG01255.hp2 NA18949.hp2 NA18957.hp1 NA18980.hp2 NA19055.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0025 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0003g0049	6	103	0.0583	28	c.-19 others(39): Show c.-1950_-1949insAAATAAATAAATAAATAAATAAATAAAT	FABP7	ENSG00000164434.12	transcript	ENST00000368444.8	protein_coding		1870		chr6	TogoVar
FADS2_chr11_61823300_61872354	61824433	A A	AGAGAGAG others(21): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	253	0.0040	28	c.-39 others(39): Show c.-3958_-3957insGAGAGAGAGAGAGAGAGAGAGAGAGAGC	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding		3866		chr11	TogoVar
FADS2_chr11_61823300_61872354	61861353	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18953.hp1 NA19000.hp1 others(1): Show HG02451.hp1 NA18953.hp1 NA19000.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0080 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0080 a0001c0001t0001g0177	4	112	0.0357	28	c.883 others(45): Show c.883-1601_883-1600insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAF1_chr1_50432028_50965267	50457724	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0006 a0001c0001t0016g0006	1	51	0.0196	28	c.187 others(49): Show c.1870-16202_1870-16201insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	18/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50554390	T T	TATATATA others(21): Show TATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	15	0.0667	28	c.126 others(49): Show c.1268+12686_1268+12687insCTCTCTCTCTCTCTCTATATATAT ATAT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	13/18			chr1	TogoVar

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