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
EYA2_chr20_46889843_47193844	46987916	G G	GACACTCT others(17): Show GACACTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18975.hp1 NA18940.hp2 NA18975.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0014 a0001c0001 a0008c0014	a0001c0001t0002 a0008c0014t0001 a0001c0001t0002 a0008c0014t0001	a0001c0001t0002g0209 a0008c0014t0001g0159 a0001c0001t0002g0209 a0008c0014t0001g0159	2	238	0.0084	24	c.-10 others(41): Show c.-10-2085_-10-2084insACACTCTCTCTCTCTCTCTCTCTC	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15			chr20	TogoVar
EYA2_chr20_46889843_47193844	46987916	G G	GACTCTCT others(17): Show GACTCTCTCTCCCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG04228.hp2 HG01192.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0232 a0001c0002t0001g0201 a0001c0001t0002g0232 a0001c0002t0001g0201	2	238	0.0084	24	c.-10 others(41): Show c.-10-2085_-10-2084insACTCTCTCTCCCTCTCTCTCTCTC	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15			chr20	TogoVar
EYA2_chr20_46889843_47193844	46987916	G G	GACTCTCT others(17): Show GACTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	238	0.0042	24	c.-10 others(41): Show c.-10-2085_-10-2084insACTCTCTCTCTCTCTCTCTCTCTC	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15			chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	238	0.0042	24	c.-10 others(41): Show c.-10-2036_-10-2035insCTCTCTCTCTATATATATATATAT	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(17): Show CTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	238	0.0042	24	c.-10 others(41): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTATATATAT	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(17): Show CTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	238	0.0042	24	c.-10 others(41): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTATATAT	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(17): Show CTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18906.hp2 HG03834.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0103 a0001c0003t0003g0234 a0001c0003t0001g0103 a0001c0003t0003g0234	2	238	0.0084	24	c.-10 others(41): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTCTATAT	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(17): Show CTCTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	238	0.0042	24	c.-10 others(41): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTCTCTAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA3_chr1_27965344_28093610	28038439	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0306 a0001c0001t0034g0306	1	392	0.0026	24	c.224 others(39): Show c.224+376_224+399dupTTTTTTTTTTTTTTTTTTTTTTTT	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	5/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28062657	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18993.hp1 NA19000.hp1 HG02129.hp1 NA18993.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0235 a0001c0001t0009g0208 a0001c0001t0009g0209 a0001c0001t0002g0235 a0001c0001t0009g0208 a0001c0001t0009g0209	3	392	0.0077	24	c.-68 others(41): Show c.-68-4587_-68-4564dupACACACACACACACACACACACAC	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073103	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG02486.hp1 others(6): Show HG00639.hp1 HG01243.hp2 HG02486.hp1 HG02559.hp2 NA18940.hp2 NA18948.hp1 NA18956.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017	a0001c0001t0004g0340 a0001c0001t0004g0389 a0001c0001t0005g0282 others(6): Show a0001c0001t0004g0340 a0001c0001t0004g0389 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0287 a0001c0001t0006g0347 a0001c0001t0006g0385 a0001c0001t0017g0343	9	392	0.0230	24	c.-68 others(43): Show c.-68-15033_-68-15010dupTATATATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19066.hp1 HG02572.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0244 a0001c0001t0008g0006 a0001c0001t0002g0244 a0001c0001t0008g0006	2	392	0.0051	24	c.-68 others(43): Show c.-68-15034_-68-15033insAATATATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01981.hp1 HG01074.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0265 a0001c0001t0002g0204 a0001c0001t0002g0265	2	392	0.0051	24	c.-68 others(43): Show c.-68-15034_-68-15033insAAAATATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02965.hp2 NA19088.hp2 HG02135.hp2 HG02965.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0002 a0001c0001t0005 a0001c0001t0015	a0001c0001t0002g0233 a0001c0001t0005g0232 a0001c0001t0015g0300 a0001c0001t0002g0233 a0001c0001t0005g0232 a0001c0001t0015g0300	3	392	0.0077	24	c.-68 others(43): Show c.-68-15034_-68-15033insAAAAAATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0298 a0001c0001t0015g0298	1	392	0.0026	24	c.-68 others(43): Show c.-68-15034_-68-15033insAAAAAAAATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084556	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	392	0.0026	24	c.-69 others(41): Show c.-69+3944_-69+3967dupATATATATATATATATATATATAT	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA4_chr6_133236357_133537128	133273097	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0141 a0002c0002t0010g0141	1	264	0.0038	24	c.-65 others(41): Show c.-65-1618_-65-1617insGTATATATATATATATATATATAT	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133273098	T T	TATATATA others(17): Show TATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0038	a0002c0002t0038g0248 a0002c0002t0038g0248	1	264	0.0038	24	c.-65 others(41): Show c.-65-1599_-65-1598insTATAAATATATATATATATATATA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133294023	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02717.hp2 HG02056.hp1 HG02717.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0014 a0001c0001t0002 a0002c0002t0014	a0001c0001t0002g0157 a0002c0002t0014g0130 a0001c0001t0002g0157 a0002c0002t0014g0130	2	264	0.0076	24	c.33+ others(41): Show c.33+19227_33+19250dupTATATATATATATATATATATATA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133294062	T T	TATATATA others(17): Show TATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0149 a0002c0002t0001g0149	1	264	0.0038	24	c.33+ others(41): Show c.33+19250_33+19251insTATATATATATATATATATATAAA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133311569	T T	TCAGCCTC others(17): Show TCAGCCTCCCAAAATGCTGAGATTA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03516.hp1 NA19240.hp1 HG02647.hp2 HG03516.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0035 a0001c0001t0047 a0002c0002t0003 a0001c0001t0035 a0001c0001t0047 a0002c0002t0003	a0001c0001t0035g0140 a0001c0001t0047g0100 a0002c0002t0003g0124 a0001c0001t0035g0140 a0001c0001t0047g0100 a0002c0002t0003g0124	3	264	0.0114	24	c.33+ others(41): Show c.33+36760_33+36783dupCCTCCCAAAATGCTGAGATTACAG	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133439049	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA20805.hp1 HG02109.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0052 a0001c0001t0001 a0002c0002t0052	a0001c0001t0001g0041 a0002c0002t0052g0197 a0001c0001t0001g0041 a0002c0002t0052g0197	2	264	0.0076	24	c.84- others(39): Show c.84-7577_84-7554dupAAAAAAAAAAAAAAAAAAAAAAAA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYS_chr6_63714980_65712226	63727737	A A	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0014 a0014	a0014c0003 a0014c0003	a0014c0003t0001 a0014c0003t0001	a0014c0003t0001g0016 a0014c0003t0001g0016	1	24	0.0417	24	c.807 others(43): Show c.8072-1058_8072-1057insATATATATATATATATATATTTTT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	41/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64085340	G G	GCGCACAC others(17): Show GCGCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0014 a0014	a0014c0003 a0014c0003	a0014c0003t0001 a0014c0003t0001	a0014c0003t0001g0016 a0014c0003t0001g0016	1	24	0.0417	24	c.642 others(43): Show c.6425-3339_6425-3338insTGTGTGTGTGTGTGTGTGTGTGCG	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	31/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64085340	G G	GCGCGCAC others(17): Show GCGCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03195.hp2 HG02809.hp2 HG03195.hp2	a0009 a0019 a0009 a0019	a0009c0013 a0019c0023 a0009c0013 a0019c0023	a0009c0013t0001 a0019c0023t0001 a0009c0013t0001 a0019c0023t0001	a0009c0013t0001g0017 a0019c0023t0001g0010 a0009c0013t0001g0017 a0019c0023t0001g0010	2	24	0.0833	24	c.642 others(43): Show c.6425-3339_6425-3338insTGTGTGTGTGTGTGTGTGTGCGCG	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	31/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64766649	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0013 a0013	a0013c0005 a0013c0005	a0013c0005t0001 a0013c0005t0001	a0013c0005t0001g0014 a0013c0005t0001g0014	1	24	0.0417	24	c.344 others(45): Show c.3443+46728_3443+46729insATATATATATTTTTTTTTTTTTTT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	22/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64766649	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0002 a0005c0011t0002	a0005c0011t0002g0018 a0005c0011t0002g0018	1	24	0.0417	24	c.344 others(45): Show c.3443+46728_3443+46729insATATATATATATTTTTTTTTTTTT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	22/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64864385	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02622.hp2 HG01169.hp1 HG02622.hp2	a0002 a0004 a0002 a0004	a0002c0012 a0004c0024 a0002c0012 a0004c0024	a0002c0012t0002 a0004c0024t0001 a0002c0012t0002 a0004c0024t0001	a0002c0012t0002g0021 a0004c0024t0001g0001 a0002c0012t0002g0021 a0004c0024t0001g0001	2	24	0.0833	24	c.299 others(45): Show c.2992+22311_2992+22312insAAAAAAAAAAAAAAAAAAAAAAAA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	19/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64989394	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp2 HG02451.hp2 HG02622.hp2	a0002 a0006 a0002 a0006	a0002c0012 a0006c0017 a0002c0012 a0006c0017	a0002c0012t0002 a0006c0017t0001 a0002c0012t0002 a0006c0017t0001	a0002c0012t0002g0021 a0006c0017t0001g0002 a0002c0012t0002g0021 a0006c0017t0001g0002	2	24	0.0833	24	c.225 others(43): Show c.2259+8187_2259+8188insATATATATATATATATATATATAT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	14/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65120460	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0017 a0009c0013t0001g0017	1	24	0.0417	24	c.202 others(45): Show c.2024-62757_2024-62734dupTTTTTTTTTTTTTTTTTTTTTTTT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65519686	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0004 a0007c0006t0001g0004	1	24	0.0417	24	c.-33 others(45): Show c.-332-23694_-332-23693insTATATATATATATATATATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	2/42			chr6	TogoVar
EZH2_chr7_148802383_148889291	148839053	T T	TAAGGAAG others(17): Show TAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01123.hp1 HG02040.hp1 others(8): Show HG00544.hp2 HG01123.hp1 HG02040.hp1 HG02080.hp2 HG02155.hp1 HG02717.hp1 HG03139.hp1 HG03209.hp1 HG03540.hp2 NA18948.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0067 a0001c0001t0001g0082 a0001c0001t0001g0094 others(8): Show a0001c0001t0001g0067 a0001c0001t0001g0082 a0001c0001t0001g0094 a0001c0001t0001g0141 a0001c0001t0001g0338 a0001c0001t0001g0352 a0001c0001t0001g0361 a0001c0001t0002g0180 a0001c0001t0002g0235 a0001c0001t0002g0290 a0002c0002t0001g0326	11	380	0.0290	24	c.247 others(41): Show c.247-6327_247-6304dupCCTTCCTTCCTTCCTTCCTTCCTT	EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding	3/19			chr7	TogoVar
EZHIP_chrX_51401948_51413843	51409476	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02630.hp1 HG02976.hp2 others(1): Show HG02559.hp1 HG02630.hp1 HG02976.hp2 HG03098.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0000 a0002c0003t0001g0000	4	295	0.0136	24	c.94 others(33): Show c.948_*949insGTGTGTGTGTGTGTGTGTGTGTGT	EZHIP	ENSG00000187690.4	transcript	ENST00000342995.4	protein_coding		634		chrX	TogoVar
F10_chr13_113117799_113154529	113148341	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0224 a0001c0002t0001g0224	1	412	0.0024	24	c.866 others(39): Show c.866-574_866-573insTATATATATATATATATATATATA	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(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0190 a0001c0002t0001g0190	1	412	0.0024	24	c.866 others(39): Show c.866-553_866-552insATATATATATATATATATATATAT	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F10_chr13_113117799_113154529	113152617	A A	AAGAGAGA others(17): Show AAGAGAGACAGAGACAGAGAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	412	0.0024	24	c.31 others(35): Show c.3100_*3101insAGAGAGACAGAGACAGAGAGAAAG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		3089		chr13	TogoVar
F13A1_chr6_6139084_6325662	6161551	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02572.hp1 HG03486.hp1 HG01081.hp2 HG02572.hp1 HG03486.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0074 a0004c0004t0002g0077 a0004c0004t0002g0275 a0004c0004t0002g0074 a0004c0004t0002g0077 a0004c0004t0002g0275	3	292	0.0103	24	c.190 others(43): Show c.1908+5906_1908+5907insTCACACACACACACACACACACAC	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	13/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6210324	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00673.hp1 others(38): Show HG00323.hp1 HG00558.hp1 HG00673.hp1 HG01109.hp1 HG01167.hp2 HG01433.hp1 HG02004.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02280.hp2 HG02300.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03516.hp1 HG03540.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18964.hp2 NA18974.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18990.hp2 NA19003.hp1 NA19030.hp1 NA19057.hp1 NA19064.hp1 NA19088.hp2 NA19240.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008	a0001c0001 a0001c0006 a0001c0022 others(8): Show a0001c0001 a0001c0006 a0001c0022 a0002c0002 a0002c0013 a0003c0003 a0004c0004 a0004c0016 a0005c0005 a0007c0007 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0006t0002 a0001c0022t0002 a0002c0002t0001 a0002c0002t0002 a0002c0013t0001 a0003c0003t0002 a0004c0004t0002 a0004c0004t0008 a0004c0004t0009 a0004c0016t0006 a0005c0005t0002 a0007c0007t0002 a0008c0010t0002	a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0118 others(38): Show a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0118 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0250 a0001c0001t0001g0284 a0001c0001t0002g0104 a0001c0001t0002g0159 a0001c0001t0002g0266 a0001c0001t0002g0278 a0001c0001t0002g0289 a0001c0001t0004g0002 a0001c0001t0004g0078 a0001c0001t0007g0263 a0001c0006t0002g0007 a0001c0022t0002g0269 a0002c0002t0001g0025 a0002c0002t0001g0124 a0002c0002t0001g0183 a0002c0002t0001g0189 a0002c0002t0001g0193 a0002c0002t0001g0216 a0002c0002t0001g0233 a0002c0002t0002g0171 a0002c0002t0002g0191 a0002c0002t0002g0224 a0002c0002t0002g0236 a0002c0013t0001g0057 a0003c0003t0002g0208 a0003c0003t0002g0210 a0004c0004t0002g0105 a0004c0004t0008g0006 a0004c0004t0009g0012 a0004c0016t0006g0075 a0005c0005t0002g0046 a0005c0005t0002g0192 a0005c0005t0002g0202 a0007c0007t0002g0034 a0007c0007t0002g0155 a0008c0010t0002g0184	41	292	0.1404	24	c.111 others(45): Show c.1112+11685_1112+11708dupATATATATATATATATATATATAT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	8/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6238715	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	292	0.0034	24	c.798 others(41): Show c.798+9596_798+9597insATATATATATATATATATATATAT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	6/14			chr6	TogoVar
F5_chr1_169506951_169591481	169577560	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA18992.hp2 NA19058.hp1 HG01069.hp1 NA18992.hp2 NA19058.hp1	a0003 a0004 a0006 a0003 a0004 a0006	a0003c0022 a0004c0023 a0006c0027 a0003c0022 a0004c0023 a0006c0027	a0003c0022t0004 a0004c0023t0003 a0006c0027t0005 a0003c0022t0004 a0004c0023t0003 a0006c0027t0005	a0003c0022t0004g0229 a0004c0023t0003g0155 a0006c0027t0005g0154 a0003c0022t0004g0229 a0004c0023t0003g0155 a0006c0027t0005g0154	3	306	0.0098	24	c.250 others(41): Show c.250+4847_250+4870dupATATATATATATATATATATATAT	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	2/24			chr1	TogoVar
F7_chr13_113100791_113125685	113105038	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03654.hp2 HG04115.hp2 HG02258.hp1 HG03654.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0059 a0002c0002t0003g0063 a0002c0002t0003g0073 a0002c0002t0003g0059 a0002c0002t0003g0063 a0002c0002t0003g0073	3	400	0.0075	24	c.-80 others(33): Show c.-804_-803insATATATATATATATATATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		752		chr13	TogoVar
F8A2_chrX_155377095_155388801	155384120	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18947.hp2 NA19081.hp2 NA18612.hp1 NA18947.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	3	267	0.0112	24	c.89 others(33): Show c.890_*891insTTTTTTTTTTTTTTTTTTTTTTTT	F8A2	ENSG00000288709.1	transcript	ENST00000369505.5	protein_coding		320		chrX	TogoVar
F9_chrX_139525739_139568459	139536216	C C	CATATATA others(17): Show CATATATATGTACACACATATATGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01175.hp2 HG01891.hp1 others(13): Show HG01109.hp1 HG01175.hp2 HG01891.hp1 HG02109.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02895.hp1 HG03486.hp2 NA18906.hp2 NA18947.hp1 NA18955.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 others(1): Show a0001c0001 a0002c0002 a0002c0006 a0002c0011	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0006t0001 a0002c0011t0002	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0083 others(10): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0096 a0001c0001t0001g0112 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0003g0139 a0002c0002t0001g0138 a0002c0006t0001g0037 a0002c0011t0002g0038	16	263	0.0608	24	c.89- others(37): Show c.89-761_89-738dupGTACACACATATATGTATATATAT	F9	ENSG00000101981.12	transcript	ENST00000218099.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
FA2H_chr16_74707969_74779820	74741808	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	388	0.0026	24	c.271 others(41): Show c.271-1694_271-1693insCATATATATATATATATATATATA	FA2H	ENSG00000103089.9	transcript	ENST00000219368.8	protein_coding	1/6			chr16	TogoVar
FA2H_chr16_74707969_74779820	74741808	A A	ATATATAT others(17): Show ATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG04204.hp1 HG01884.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0003 a0001c0022t0016 a0001c0001t0003 a0001c0022t0016	a0001c0001t0003g0203 a0001c0022t0016g0366 a0001c0001t0003g0203 a0001c0022t0016g0366	2	388	0.0052	24	c.271 others(41): Show c.271-1694_271-1693insCACATATATATATATATATATATA	FA2H	ENSG00000103089.9	transcript	ENST00000219368.8	protein_coding	1/6			chr16	TogoVar
FA2H_chr16_74707969_74779820	74741808	A A	ATATATAT others(17): Show ATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	388	0.0026	24	c.271 others(41): Show c.271-1694_271-1693insCACACATATATATATATATATATA	FA2H	ENSG00000103089.9	transcript	ENST00000219368.8	protein_coding	1/6			chr16	TogoVar
FA2H_chr16_74707969_74779820	74741808	A A	ATATATAT others(17): Show ATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0347 a0001c0006t0002g0347	1	388	0.0026	24	c.271 others(41): Show c.271-1694_271-1693insCACACACATATATATATATATATA	FA2H	ENSG00000103089.9	transcript	ENST00000219368.8	protein_coding	1/6			chr16	TogoVar
FA2H_chr16_74707969_74779820	74741808	A A	ATATATAT others(17): Show ATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0370 a0001c0003t0005g0370	1	388	0.0026	24	c.271 others(41): Show c.271-1694_271-1693insCACACACACATATATATATATATA	FA2H	ENSG00000103089.9	transcript	ENST00000219368.8	protein_coding	1/6			chr16	TogoVar
FA2H_chr16_74707969_74779820	74741808	A A	ATATATAT others(17): Show ATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0023 a0001c0001t0024g0023	1	388	0.0026	24	c.271 others(41): Show c.271-1694_271-1693insCACACACACACATATATATATATA	FA2H	ENSG00000103089.9	transcript	ENST00000219368.8	protein_coding	1/6			chr16	TogoVar
FAAH2_chrX_57281706_57494193	57306988	C C	CAGATATA others(17): Show CAGATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	282	0.0036	24	c.276 others(41): Show c.276-3604_276-3603insGATATATATATATATATATATATA	FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar

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