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
EYS_chr6_63714980_65712226	64249063	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0008 a0008	a0008c0001 a0008c0001	a0008c0001t0001 a0008c0001t0001	a0008c0001t0001g0013 a0008c0001t0001g0013	1	24	0.0417	20	c.619 others(41): Show c.6192-18259_6192-18240dupTTTTTTTTTTTTTTTTTTTT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	30/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64506908	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0008 a0008	a0008c0001 a0008c0001	a0008c0001t0001 a0008c0001t0001	a0008c0001t0001g0013 a0008c0001t0001g0013	1	24	0.0417	20	c.564 others(41): Show c.5645-67557_5645-67556insTTTTTTTTTTTTTTTTTTTT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	26/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64766649	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0003 a0012c0016t0001g0003	1	24	0.0417	20	c.344 others(41): Show c.3443+46728_3443+46729insATATATATATATATATTTTT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	22/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64792856	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0013 a0013	a0013c0005 a0013c0005	a0013c0005t0001 a0013c0005t0001	a0013c0005t0001g0014 a0013c0005t0001g0014	1	24	0.0417	20	c.344 others(41): Show c.3443+20521_3443+20522insCACACACACACACACACACA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	22/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64901294	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0014 a0014	a0014c0003 a0014c0003	a0014c0003t0001 a0014c0003t0001	a0014c0003t0001g0016 a0014c0003t0001g0016	1	24	0.0417	20	c.284 others(37): Show c.2846+799_2846+818dupTATATATATATATATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	18/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64989394	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02896.hp2 HG02970.hp1 others(1): Show HG02622.hp1 HG02896.hp2 HG02970.hp1 HG03098.hp2	a0007 a0012 a0014 others(1): Show a0007 a0012 a0014 a0017	a0007c0006 a0012c0016 a0014c0003 others(1): Show a0007c0006 a0012c0016 a0014c0003 a0017c0014	a0007c0006t0001 a0012c0016t0001 a0014c0003t0001 others(1): Show a0007c0006t0001 a0012c0016t0001 a0014c0003t0001 a0017c0014t0001	a0007c0006t0001g0004 a0012c0016t0001g0003 a0014c0003t0001g0016 others(1): Show a0007c0006t0001g0004 a0012c0016t0001g0003 a0014c0003t0001g0016 a0017c0014t0001g0005	4	24	0.1667	20	c.225 others(39): Show c.2259+8168_2259+8187dupATATATATATATATATATAT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	14/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65192293	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0017 a0009c0013t0001g0017	1	24	0.0417	20	c.202 others(43): Show c.2023+103550_2023+103569dupCACACACACACACACACACA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65271128	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp1 HG02970.hp2 HG02630.hp1 HG02809.hp1 HG02970.hp2	a0003 a0008 a0015 a0003 a0008 a0015	a0003c0008 a0008c0001 a0015c0004 a0003c0008 a0008c0001 a0015c0004	a0003c0008t0002 a0008c0001t0001 a0015c0004t0002 a0003c0008t0002 a0008c0001t0001 a0015c0004t0002	a0003c0008t0002g0020 a0008c0001t0001g0013 a0015c0004t0002g0024 a0003c0008t0002g0020 a0008c0001t0001g0013 a0015c0004t0002g0024	3	24	0.1250	20	c.202 others(41): Show c.2023+24715_2023+24734dupTATATATATATATATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65278031	C C	CCTTTTCT others(13): Show CCTTTTCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02451.hp2 HG02896.hp1 others(2): Show HG01169.hp2 HG02451.hp2 HG02896.hp1 HG03098.hp1 HG03209.hp2	a0001 a0006 a0011 others(2): Show a0001 a0006 a0011 a0016 a0021	a0001c0019 a0006c0017 a0011c0010 others(2): Show a0001c0019 a0006c0017 a0011c0010 a0016c0022 a0021c0007	a0001c0019t0001 a0006c0017t0001 a0011c0010t0001 others(2): Show a0001c0019t0001 a0006c0017t0001 a0011c0010t0001 a0016c0022t0001 a0021c0007t0001	a0001c0019t0001g0006 a0006c0017t0001g0002 a0011c0010t0001g0015 others(2): Show a0001c0019t0001g0006 a0006c0017t0001g0002 a0011c0010t0001g0015 a0016c0022t0001g0011 a0021c0007t0001g0009	5	24	0.2083	20	c.202 others(41): Show c.2023+17812_2023+17831dupAAAAGAAAAGAAAAGAAAAG	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42			chr6	TogoVar
EZH2_chr7_148802383_148889291	148839053	T T	TAAGGAAG others(13): Show TAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01515.hp1 others(15): Show HG01167.hp2 HG01169.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG02071.hp1 HG02273.hp2 HG02615.hp1 HG03516.hp2 HG06807.hp2 NA18747.hp2 NA18973.hp2 NA18984.hp1 NA18984.hp2 NA19002.hp2 NA19011.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 a0002c0002t0007	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 others(15): Show a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0090 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0190 a0001c0001t0001g0295 a0001c0001t0001g0334 a0001c0001t0006g0311 a0002c0002t0001g0315 a0002c0002t0001g0359 a0002c0002t0007g0378	18	380	0.0474	20	c.247 others(37): Show c.247-6323_247-6304dupCCTTCCTTCCTTCCTTCCTT	EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding	3/19			chr7	TogoVar
EZHIP_chrX_51401948_51413843	51409476	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00733.hp2 HG01255.hp1 others(5): Show HG00099.hp1 HG00733.hp2 HG01255.hp1 HG02451.hp2 HG03041.hp1 HG03490.hp1 HG03491.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	8	295	0.0271	20	c.94 others(29): Show c.948_*949insGTGTGTGTGTGTGTGTGTGT	EZHIP	ENSG00000187690.4	transcript	ENST00000342995.4	protein_coding		634		chrX	TogoVar
F10_chr13_113117799_113154529	113148343	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0324 a0001c0002t0001g0324	1	412	0.0024	20	c.866 others(35): Show c.866-572_866-571insTATATATATATATATATATA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F10_chr13_113117799_113154529	113148345	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19083.hp2 NA18947.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0336 a0001c0002t0001g0121 a0001c0002t0001g0336	2	412	0.0049	20	c.866 others(35): Show c.866-553_866-552insATATATATATATATATATAT	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F13A1_chr6_6139084_6325662	6161524	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0089 a0003c0003t0011g0089	1	292	0.0034	20	c.190 others(39): Show c.1908+5914_1908+5933dupCACACACACACACACACACA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	13/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6161551	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03209.hp2 HG02280.hp2 HG03209.hp2	a0004 a0006 a0004 a0006	a0004c0004 a0006c0026 a0004c0004 a0006c0026	a0004c0004t0002 a0006c0026t0002 a0004c0004t0002 a0006c0026t0002	a0004c0004t0002g0105 a0006c0026t0002g0287 a0004c0004t0002g0105 a0006c0026t0002g0287	2	292	0.0069	20	c.190 others(39): Show c.1908+5906_1908+5907insTCACACACACACACACACAC	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	13/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6210324	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01243.hp2 HG02135.hp2 others(10): Show HG01168.hp2 HG01243.hp2 HG02135.hp2 HG02615.hp1 HG02622.hp1 HG02895.hp2 HG02896.hp2 HG04228.hp1 NA18522.hp2 NA18990.hp1 NA19057.hp2 NA19079.hp2 NA19091.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0003c0003t0004 a0009c0008t0003	a0001c0001t0001g0008 a0001c0001t0001g0119 a0001c0001t0001g0252 others(10): Show a0001c0001t0001g0008 a0001c0001t0001g0119 a0001c0001t0001g0252 a0001c0001t0002g0031 a0001c0001t0002g0282 a0001c0001t0004g0076 a0001c0001t0004g0153 a0002c0002t0001g0126 a0002c0002t0001g0144 a0002c0002t0001g0283 a0002c0002t0002g0291 a0003c0003t0004g0033 a0009c0008t0003g0176	13	292	0.0445	20	c.111 others(41): Show c.1112+11689_1112+11708dupATATATATATATATATATAT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	8/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6238715	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03225.hp2 HG00733.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0004 a0001c0009t0001 a0001c0001t0004 a0001c0009t0001	a0001c0001t0004g0044 a0001c0009t0001g0072 a0001c0001t0004g0044 a0001c0009t0001g0072	2	292	0.0069	20	c.798 others(37): Show c.798+9596_798+9597insATATATATATATATATATAT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	6/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6321373	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0105 a0004c0004t0002g0105	1	292	0.0034	20	c.-80 others(29): Show c.-806_-805insAAGAAAGAAAGAAAGAAAGA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding		712		chr6	TogoVar
F13B_chr1_197033741_197072260	197038701	C C	CTAAATAA others(13): Show CTAAATAAATAAATAAATAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	342	0.0029	20	c.67 others(29): Show c.676_*677insTTTATTTATTTATTTATTTA	F13B	ENSG00000143278.5	transcript	ENST00000367412.2	protein_coding		39		chr1	TogoVar
F2R_chr5_76711126_76740770	76714068	G G	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01943.hp1 HG02970.hp1 others(2): Show HG01928.hp2 HG01943.hp1 HG02970.hp1 HG03540.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0049 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0049 a0001c0001t0001g0133 a0001c0001t0003g0017	5	422	0.0119	20	c.-22 others(31): Show c.-2240_-2239insAGGAAGGAAGGAAGGAAGGA	F2R	ENSG00000181104.7	transcript	ENST00000319211.5	protein_coding		2057		chr5	TogoVar
F2_chr11_46714213_46744506	46731912	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	350	0.0029	20	c.165 others(39): Show c.1654+2354_1654+2373dupTTTTTTTTTTTTTTTTTTTT	F2	ENSG00000180210.15	transcript	ENST00000311907.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
F5_chr1_169506951_169591481	169556425	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG02809.hp1 others(4): Show HG01109.hp2 HG01243.hp2 HG02809.hp1 HG03486.hp1 HG03579.hp1 NA19043.hp2 NA19240.hp1	a0002 a0007 a0010 others(1): Show a0002 a0007 a0010 a0011	a0002c0003 a0007c0041 a0010c0012 others(1): Show a0002c0003 a0007c0041 a0010c0012 a0011c0036	a0002c0003t0001 a0007c0041t0006 a0010c0012t0002 others(1): Show a0002c0003t0001 a0007c0041t0006 a0010c0012t0002 a0011c0036t0003	a0002c0003t0001g0013 a0002c0003t0001g0015 a0007c0041t0006g0014 others(4): Show a0002c0003t0001g0013 a0002c0003t0001g0015 a0007c0041t0006g0014 a0010c0012t0002g0062 a0010c0012t0002g0063 a0010c0012t0002g0064 a0011c0036t0003g0049	7	306	0.0229	20	c.952 others(35): Show c.952+220_952+221insTTTTTTTTTTTTTTTTTTTT	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169577560	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01884.hp1 HG01993.hp1 others(8): Show HG00280.hp2 HG01884.hp1 HG01993.hp1 HG02293.hp1 HG02818.hp2 HG03704.hp2 HG04228.hp2 NA18960.hp2 NA18987.hp1 NA18993.hp2 NA18999.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0020 a0030	a0001c0002 a0003c0005 a0005c0006 others(3): Show a0001c0002 a0003c0005 a0005c0006 a0005c0008 a0020c0077 a0030c0052	a0001c0002t0002 a0003c0005t0003 a0005c0006t0001 others(3): Show a0001c0002t0002 a0003c0005t0003 a0005c0006t0001 a0005c0008t0001 a0020c0077t0005 a0030c0052t0002	a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0162 others(8): Show a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0211 a0001c0002t0002g0212 a0003c0005t0003g0217 a0005c0006t0001g0280 a0005c0008t0001g0159 a0020c0077t0005g0213 a0030c0052t0002g0281	11	306	0.0360	20	c.250 others(37): Show c.250+4851_250+4870dupATATATATATATATATATAT	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	2/24			chr1	TogoVar
F7_chr13_113100791_113125685	113105038	A A	AATATATA others(13): Show AATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 NA21309.hp1 HG03579.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0062 a0002c0002t0003g0066 a0002c0002t0001g0062 a0002c0002t0003g0066	2	400	0.0050	20	c.-80 others(29): Show c.-804_-803insATATATATATATATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		752		chr13	TogoVar
F7_chr13_113100791_113125685	113105040	A A	AATATATA others(13): Show AATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0065 a0002c0002t0003g0065	1	400	0.0025	20	c.-80 others(29): Show c.-802_-801insATATATATATATATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		750		chr13	TogoVar
F7_chr13_113100791_113125685	113105040	A A	ATATACAT others(13): Show ATATACATTATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02723.hp2 HG02630.hp1 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0050 a0001c0003t0010g0050	2	400	0.0050	20	c.-80 others(29): Show c.-802_-801insTATACATTATATATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		750		chr13	TogoVar
F7_chr13_113100791_113125685	113108159	G G	GCGTGGGT others(13): Show GCGTGGGTTGTTCCCGGGGGT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	400	0.0025	20	c.64+ others(35): Show c.64+2261_64+2262insTGTTCCCGGGGGTCGTGGGT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F8A1_chrX_154881355_154893061	154884884	A A	ATGCGTGC others(13): Show ATGCGTGCCCGTCGCCGGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	325	0.0031	20	c.-14 others(31): Show c.-1491_-1490insTGCGTGCCCGTCGCCGGATG	F8A1	ENSG00000288722.1	transcript	ENST00000610495.2	protein_coding		1470		chrX	TogoVar
F8A2_chrX_155377095_155388801	155384120	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG03927.hp2 NA18965.hp1 others(4): Show HG02083.hp1 HG03927.hp2 NA18965.hp1 NA19006.hp1 NA19056.hp1 NA19067.hp1 NA20752.hp1	a0001 a0005 a0009 others(1): Show a0001 a0005 a0009 a0011	a0001c0001 a0005c0008 a0009c0014 others(1): Show a0001c0001 a0005c0008 a0009c0014 a0011c0005	a0001c0001t0002 a0005c0008t0007 a0009c0014t0009 others(1): Show a0001c0001t0002 a0005c0008t0007 a0009c0014t0009 a0011c0005t0004	a0001c0001t0002g0000 a0005c0008t0007g0000 a0009c0014t0009g0000 others(1): Show a0001c0001t0002g0000 a0005c0008t0007g0000 a0009c0014t0009g0000 a0011c0005t0004g0000	7	267	0.0262	20	c.89 others(29): Show c.890_*891insTTTTTTTTTTTTTTTTTTTT	F8A2	ENSG00000288709.1	transcript	ENST00000369505.5	protein_coding		320		chrX	TogoVar
FA2H_chr16_74707969_74779820	74741808	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0325 a0001c0005t0010g0325	1	388	0.0026	20	c.271 others(37): Show c.271-1694_271-1693insCATATATATATATATATATA	FA2H	ENSG00000103089.9	transcript	ENST00000219368.8	protein_coding	1/6			chr16	TogoVar
FA2H_chr16_74707969_74779820	74741808	A A	ATATATAT others(13): Show ATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01516.hp2 HG01517.hp1 HG00738.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0282 a0001c0003t0002g0010 a0001c0001t0001g0282 a0001c0003t0002g0010	3	388	0.0077	20	c.271 others(37): Show c.271-1694_271-1693insCACATATATATATATATATA	FA2H	ENSG00000103089.9	transcript	ENST00000219368.8	protein_coding	1/6			chr16	TogoVar
FA2H_chr16_74707969_74779820	74750761	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01358.hp1 HG02698.hp1 others(9): Show HG00738.hp1 HG01358.hp1 HG02698.hp1 HG03209.hp1 HG03453.hp2 HG03688.hp1 HG03688.hp2 HG04204.hp1 NA19002.hp2 NA19004.hp2 NA19079.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0003t0002 a0001c0003t0003 a0001c0004t0004 a0001c0007t0001	a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0299 others(8): Show a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0299 a0001c0001t0003g0043 a0001c0001t0003g0202 a0001c0002t0002g0045 a0001c0003t0002g0335 a0001c0003t0003g0011 a0001c0004t0004g0210 a0001c0007t0001g0035 a0001c0007t0001g0036	12	388	0.0309	20	c.271 others(39): Show c.271-10666_271-10647dupCACACACACACACACACACA	FA2H	ENSG00000103089.9	transcript	ENST00000219368.8	protein_coding	1/6			chr16	TogoVar
FA2H_chr16_74707969_74779820	74750790	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0025 a0001c0004t0025	a0001c0004t0025g0211 a0001c0004t0025g0211	1	388	0.0026	20	c.271 others(39): Show c.271-10676_271-10675insGCACACACACACACACACAC	FA2H	ENSG00000103089.9	transcript	ENST00000219368.8	protein_coding	1/6			chr16	TogoVar
FAAH2_chrX_57281706_57494193	57288338	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	282	0.0036	20	c.192 others(37): Show c.192+1331_192+1350dupTTTTTTTTTTTTTTTTTTTT	FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAAH2_chrX_57281706_57494193	57306990	C C	CAGATATA others(13): Show CAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03486.hp1 NA19074.hp2 HG02630.hp2 HG03486.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0098 a0001c0001t0001g0133 a0001c0001t0001g0057 a0001c0001t0001g0098 a0001c0001t0001g0133	3	282	0.0106	20	c.276 others(37): Show c.276-3602_276-3601insGATATATATATATATATATA	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(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00673.hp1 others(41): Show HG00423.hp2 HG00558.hp1 HG00673.hp1 HG01123.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01952.hp1 HG02015.hp1 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02155.hp2 HG02257.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02738.hp1 HG02896.hp1 HG03041.hp1 HG03239.hp1 HG03471.hp1 HG03540.hp2 HG03654.hp1 NA18940.hp1 NA18941.hp1 NA18944.hp1 NA18945.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18975.hp2 NA19002.hp1 NA19006.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19067.hp1 NA19070.hp1 NA19079.hp1 NA19082.hp1 NA20129.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0002c0004t0002	a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0088 others(41): Show a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0003g0018 a0001c0002t0002g0006 a0001c0002t0002g0141 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0200 a0001c0002t0002g0206 a0001c0002t0002g0208 a0001c0002t0002g0222 a0001c0002t0002g0224 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0231 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0255 a0002c0004t0002g0146 a0002c0004t0002g0147	44	282	0.1560	20	c.276 others(37): Show c.276-3596_276-3595insTATATATATATATATATATA	FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAAH2_chrX_57281706_57494193	57334268	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01934.hp1 HG02698.hp1 others(7): Show HG00673.hp1 HG01934.hp1 HG02698.hp1 HG03654.hp1 HG03669.hp2 HG03710.hp1 HG03942.hp1 NA18965.hp1 NA19004.hp1 NA19006.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0119 a0001c0002t0002g0165 a0001c0002t0002g0171 others(7): Show a0001c0002t0002g0119 a0001c0002t0002g0165 a0001c0002t0002g0171 a0001c0002t0002g0200 a0001c0002t0002g0212 a0001c0002t0002g0232 a0001c0002t0002g0236 a0001c0002t0002g0238 a0001c0002t0002g0241 a0001c0002t0002g0255	10	282	0.0355	20	c.622 others(37): Show c.622+2472_622+2491dupCACACACACACACACACACA	FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAAH2_chrX_57281706_57494193	57352099	T T	TATATGTG others(13): Show TATATGTGTATATATATGCAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0261 a0001c0003t0001g0261	1	282	0.0036	20	c.742 others(39): Show c.742+10713_742+10714insGTGTATATATATGCACATAT	FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAAP24_chr19_32967242_32983229	32983055	T T	TACACACA others(13): Show TACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00741.hp2 HG01884.hp2 others(1): Show HG00609.hp1 HG00741.hp2 HG01884.hp2 HG02896.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0005 a0001c0003t0079 a0003c0005t0004 a0001c0001t0005 a0001c0003t0079 a0003c0005t0004	a0001c0001t0005g0022 a0001c0001t0005g0037 a0001c0003t0079g0060 others(1): Show a0001c0001t0005g0022 a0001c0001t0005g0037 a0001c0003t0079g0060 a0003c0005t0004g0007	4	452	0.0089	20	c.63 others(31): Show c.6373_*6374insACACACACACACACACACAC	FAAP24	ENSG00000131944.11	transcript	ENST00000588258.6	protein_coding		4827		chr19	TogoVar
FABP6_chr5_160224506_160243716	160227818	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG03098.hp1 HG01346.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0191 a0001c0001t0001g0031 a0001c0001t0001g0191	2	476	0.0042	20	c.-17 others(31): Show c.-1740_-1739insTGTGTGTGTGTGTGTGTGTG	FABP6	ENSG00000170231.16	transcript	ENST00000402432.4	protein_coding		1687		chr5	TogoVar
FABP7_chr6_122774716_122789074	122777845	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG00639.hp2 others(78): Show HG00558.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01361.hp2 HG01928.hp2 HG01943.hp1 HG01993.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02257.hp2 HG02293.hp1 HG02486.hp2 HG02523.hp1 HG02976.hp1 HG03209.hp1 HG03453.hp1 HG03490.hp1 HG03491.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18972.hp1 NA18974.hp1 NA18975.hp2 NA18980.hp1 NA18981.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19063.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0057 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0003g0002 a0001c0001t0006g0033	81	480	0.1688	20	c.-19 others(31): Show c.-1950_-1949insAAATAAATAAATAAATAAAT	FABP7	ENSG00000164434.12	transcript	ENST00000368444.8	protein_coding		1870		chr6	TogoVar
FADS2_chr11_61823300_61872354	61853282	C C	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02015.hp2 HG00423.hp1 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0219 a0001c0002t0001g0208 a0001c0001t0001g0219 a0001c0002t0001g0208	2	280	0.0071	20	c.745 others(37): Show c.745-3726_745-3725insTCCTTCCTTCCTTCCTTCCT	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
FADS2_chr11_61823300_61872354	61853290	C C	CCCTCCCT others(13): Show CCCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	280	0.0036	20	c.745 others(37): Show c.745-3718_745-3717insCCCTTCCTTCCTTCCTTCCT	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
FADS2_chr11_61823300_61872354	61853290	C C	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03831.hp1 HG03209.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0054 a0001c0001t0001g0024 a0001c0001t0001g0054	2	280	0.0071	20	c.745 others(37): Show c.745-3696_745-3677dupCCTTCCTTCCTTCCTTCCTT	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
FADS2_chr11_61823300_61872354	61861353	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	280	0.0036	20	c.883 others(37): Show c.883-1601_883-1600insAAAAAAAAAAAAAAAAAAAA	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(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01257.hp1 HG02071.hp2 others(2): Show HG01081.hp1 HG01257.hp1 HG02071.hp2 NA19074.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0017 a0001c0001t0003 a0001c0001t0011 a0001c0001t0017	a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0040 others(2): Show a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0040 a0001c0001t0011g0030 a0001c0001t0017g0026	5	190	0.0263	20	c.187 others(41): Show c.1870-16221_1870-16202dupTTTTTTTTTTTTTTTTTTTT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	18/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50490384	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0187 a0001c0001t0009g0187	1	190	0.0053	20	c.165 others(37): Show c.1653+184_1653+203dupCCTTCCTTCCTTCCTTCCTT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	17/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50561848	C C	CGGAAGGA others(13): Show CGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	190	0.0053	20	c.126 others(39): Show c.1268+5209_1268+5228dupTTCCTTCCTTCCTTCCTTCC	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	13/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50561882	G G	GAAGGAAG others(13): Show GAAGGAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0012 a0001c0001t0012g0012	1	190	0.0053	20	c.126 others(39): Show c.1268+5194_1268+5195insTCTTCCTTCCTTCCTTCCTT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	13/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50674860	C C	CTATTTTA others(13): Show CTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG06807.hp1 HG02109.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0041 a0001c0001t0023 a0001c0001t0041	a0001c0001t0023g0010 a0001c0001t0041g0013 a0001c0001t0023g0010 a0001c0001t0041g0013	2	190	0.0105	20	c.658 others(39): Show c.658-19352_658-19333dupAAATAAAATAAAATAAAATA	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	7/18			chr1	TogoVar

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