Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
NXN_chr17_794310_984776	839797	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	70	0.0143	30	c.361 others(49): Show c.361-13720_361-13719insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	894110	T T	TCCCTGGA others(23): Show TCCCTGGAAGCCAGAGGAAGCATCTCAAACG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	192	0.0052	30	c.361 others(49): Show c.361-68062_361-68033dupCGTTTGAGATGCTTCCTCTGGCTTCC AGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(23): Show TATATATACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	19	0.0526	30	c.-39 others(41): Show c.-3934_-3933insGTGTGTGTGTGTGTGTGTGTGTGTATATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0242 a0001c0001t0032g0242	1	19	0.0526	30	c.-39 others(41): Show c.-3934_-3933insGTGTGTGTATATATATATATATATATATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NXPE2_chr11_114673527_114712069	114708636	A A	AAAAAGAA others(23): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0061 a0001c0003t0001g0061	1	369	0.0027	30	c.17 others(41): Show c.1706_*1707insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	NXPE2	ENSG00000204361.10	transcript	ENST00000389586.6	protein_coding		1568		chr11	TogoVar
NYAP2_chr2_225394710_225708654	225512831	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03195.hp2 NA18522.hp1 others(1): Show HG02922.hp1 HG03195.hp2 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0044 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0044 a0001c0006t0020	a0001c0001t0002g0004 a0001c0001t0004g0017 a0001c0001t0044g0174 others(1): Show a0001c0001t0002g0004 a0001c0001t0004g0017 a0001c0001t0044g0174 a0001c0006t0020g0018	4	139	0.0288	30	c.222 others(45): Show c.222-539_222-538insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225589516	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02886.hp2 HG03098.hp2 others(3): Show HG02109.hp2 HG02886.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0006 a0003c0012 a0001c0002 a0001c0006 a0003c0012	a0001c0002t0008 a0001c0002t0033 a0001c0006t0020 others(2): Show a0001c0002t0008 a0001c0002t0033 a0001c0006t0020 a0001c0006t0040 a0003c0012t0030	a0001c0002t0008g0127 a0001c0002t0008g0183 a0001c0002t0033g0184 others(3): Show a0001c0002t0008g0127 a0001c0002t0008g0183 a0001c0002t0033g0184 a0001c0006t0020g0045 a0001c0006t0040g0073 a0003c0012t0030g0003	6	30	0.2000	30	c.161 others(49): Show c.1618+6507_1618+6508insATATATATATATATATATATATATAT ATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225597512	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03130.hp1 HG03486.hp2 others(2): Show HG02056.hp1 HG03130.hp1 HG03486.hp2 NA19068.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0014 a0001c0001 a0001c0005 a0001c0014	a0001c0001t0003 a0001c0001t0004 a0001c0005t0005 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0005t0005 a0001c0014t0001	a0001c0001t0003g0071 a0001c0001t0004g0043 a0001c0005t0005g0136 others(2): Show a0001c0001t0003g0071 a0001c0001t0004g0043 a0001c0005t0005g0136 a0001c0005t0005g0164 a0001c0014t0001g0125	5	46	0.1087	30	c.161 others(51): Show c.1618+14495_1618+14496insATATATATATATATATATATATAT ATATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225619124	G G	GAACTTTA others(23): Show GAACTTTAAATGCATTATCTCATTTAATCTT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0007 a0002c0007t0007	a0002c0007t0007g0006 a0002c0007t0007g0006	1	190	0.0053	30	c.161 others(49): Show c.1619-7792_1619-7763dupAACTTTAAATGCATTATCTCATTTAA TCTT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYNRIN_chr14_24394003_24424283	24406201	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0161 a0005c0007t0002g0161	1	84	0.0119	30	c.199 others(47): Show c.199-1646_199-1617dupAAATAAAATAAAATAAAATAAAATAAAA TA	NYNRIN	ENSG00000205978.6	transcript	ENST00000382554.4	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
OBP2A_chr9_135541126_135554969	135544761	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	52	0.0192	30	c.-14 others(41): Show c.-1420_-1419insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	OBP2A	ENSG00000122136.14	transcript	ENST00000371776.6	protein_coding		1364		chr9	TogoVar
OBSCN_chr1_228203044_228383876	228333510	C C	CTGTCTCC others(23): Show CTGTCTCCCTGATCCAGCAACCAGGCCCTGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0065 a0065	a0065c0104 a0065c0104	a0065c0104t0001 a0065c0104t0001	a0065c0104t0001g0143 a0065c0104t0001g0143	1	318	0.0031	30	c.187 others(47): Show c.18728-65_18728-64insTGATCCAGCAACCAGGCCCTGATGTCTC CC	OBSCN	ENSG00000154358.23	transcript	ENST00000680850.1	protein_coding	69/115		INFO_REALIGN_3_PRIME	chr1	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(23): Show CTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0001 a0003c0020t0001	a0003c0020t0001g0083 a0003c0020t0001g0083	1	13	0.0769	30	c.243 others(51): Show c.2432+20356_2432+20357insTATATATATATATATATATATATA GAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0040 a0004c0040	a0004c0040t0001 a0004c0040t0001	a0004c0040t0001g0081 a0004c0040t0001g0081	1	13	0.0769	30	c.243 others(51): Show c.2432+20356_2432+20357insTATATATATATATATATATAGAGA GAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0007 a0003c0013t0001g0007	1	13	0.0769	30	c.243 others(51): Show c.2432+20356_2432+20357insTATATATATATATATAGAGAGAGA GAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02055.hp2 others(4): Show HG01069.hp1 HG01071.hp1 HG02055.hp2 HG02647.hp1 HG02809.hp1 HG04115.hp1 NA18950.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0011	a0001c0001 a0001c0003 a0002c0016 others(2): Show a0001c0001 a0001c0003 a0002c0016 a0006c0042 a0011c0037	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0002c0016t0001 a0006c0042t0001 a0011c0037t0001	a0001c0001t0001g0005 a0001c0001t0005g0108 a0001c0003t0001g0087 others(4): Show a0001c0001t0001g0005 a0001c0001t0005g0108 a0001c0003t0001g0087 a0002c0016t0001g0046 a0002c0016t0001g0047 a0006c0042t0001g0027 a0011c0037t0001g0080	7	19	0.3684	30	c.243 others(51): Show c.2432+20356_2432+20357insTATATATATATAGAGAGAGAGAGA GAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0005 a0005	a0005c0034 a0005c0034	a0005c0034t0001 a0005c0034t0001	a0005c0034t0001g0078 a0005c0034t0001g0078	1	13	0.0769	30	c.243 others(51): Show c.2432+20356_2432+20357insTATATATATAGAGAGAGAGAGAGA GAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0038 a0001c0003t0001g0038	1	13	0.0769	30	c.243 others(51): Show c.2432+20356_2432+20357insTATAGAGAGAGAGAGAGAGAGAGA GAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG03540.hp1 NA19043.hp2 HG02809.hp2 HG03540.hp1 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	3	245	0.0122	30	c.-78 others(39): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTATATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03471.hp1 HG03195.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	2	244	0.0082	30	c.-78 others(39): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCSTAMP_chr20_46535946_46555654	46549806	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00639.hp2 others(31): Show HG00099.hp1 HG00140.hp1 HG00639.hp2 HG00738.hp2 HG01070.hp2 HG01099.hp2 HG01346.hp1 HG01515.hp1 HG02004.hp1 HG02015.hp1 HG02080.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02486.hp2 HG02602.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG03098.hp1 HG03540.hp2 HG03688.hp1 HG04199.hp2 NA18522.hp1 NA18988.hp1 NA19010.hp2 NA19043.hp2 NA19058.hp1 NA19074.hp2 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 a0001c0002t0003 a0001c0004t0001	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 others(19): Show a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0007g0065 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0003g0093 a0001c0002t0003g0094 a0001c0004t0001g0088 a0001c0004t0001g0089	34	101	0.3366	30	c.44+ others(43): Show c.44+710_44+711insCACACACACACACACACACACACACACACA	OCSTAMP	ENSG00000149635.3	transcript	ENST00000279028.3	protein_coding	1/2			chr20	TogoVar
ODAD2_chr10_27807168_28004079	27924000	A A	AAGAAAGA others(23): Show AAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0267 a0009c0016t0001g0267	1	301	0.0033	30	c.249 others(51): Show c.2495+11009_2495+11010insCTCTCTCTCTCTCTCTCTCTCTCT CTTTCT	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	16/19			chr10	TogoVar
ODAD3_chr19_11415605_11440121	11425130	T T	TATATGTG others(23): Show TATATGTGTATATGTACATATGTATATATAC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	369	0.0027	30	c.963 others(46): Show c.963+984_963+1013dupGTATATATACATATGTACATATACACATA T	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODC1_chr2_10434968_10453327	10448557	G G	GCCCCGCC others(23): Show GCCCCGCCCTCCCCGCCCTGCGGCCGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02896.hp1 others(3): Show HG01167.hp2 HG01169.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	6	433	0.0139	30	c.-56 others(39): Show c.-565_-564insAGAGGCGGCCGCAGGGCGGGGAGGGCGGGG	ODC1	ENSG00000115758.14	transcript	ENST00000234111.9	protein_coding		231		chr2	TogoVar
ODF2L_chr1_86341837_86401323	86400628	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	145	0.0069	30	c.-46 others(41): Show c.-4656_-4655insATATATATATATATATATATATATATATAT	ODF2L	ENSG00000122417.16	transcript	ENST00000460698.7	protein_coding		4306		chr1	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	69	0.0145	30	c.669 others(45): Show c.669+666_669+667insAATATATATATATATATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	69	0.0145	30	c.669 others(45): Show c.669+694_669+695insTATATATATATATATATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128497446	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0086 a0001c0001t0007g0086	1	216	0.0046	30	c.226 others(47): Show c.2262-966_2262-965insAAAAAAAATATATATATATATATATATA TA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
OGDH_chr7_44601627_44714066	44616640	T T	TGTATATA others(23): Show TGTATATATACACATATATATACGTATATAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18945.hp1 NA18959.hp2 others(2): Show HG03195.hp2 NA18945.hp1 NA18959.hp2 NA18999.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0009t0001	a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0006g0065 others(2): Show a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0006g0065 a0001c0002t0001g0063 a0001c0009t0001g0193	5	304	0.0164	30	c.-27 others(47): Show c.-27-7660_-27-7631dupATATACGTATATACGTATATATACACAT AT	OGDH	ENSG00000105953.16	transcript	ENST00000222673.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
OGDH_chr7_44601627_44714066	44616787	A A	ATATATAT others(23): Show ATATATATGTGTATATATATGCATATATACG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0033 a0001c0001t0006g0033	1	304	0.0033	30	c.-27 others(47): Show c.-27-7511_-27-7482dupTGCATATATACGTATATATGTGTATATA TA	OGDH	ENSG00000105953.16	transcript	ENST00000222673.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
OGFOD1_chr16_56446554_56484104	56480352	C C	CACAAAAA others(23): Show CACAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0251 a0001c0001t0029g0251	1	295	0.0034	30	c.41 others(41): Show c.4147_*4148insACAAAAAAAAAAAAAAAAAAAAAAAAAAAA	OGFOD1	ENSG00000087263.17	transcript	ENST00000566157.6	protein_coding		1249		chr16	TogoVar
OGFOD3_chr17_82384210_82423586	82401803	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0249 a0001c0003t0002g0249	1	152	0.0066	30	c.699 others(47): Show c.699+2133_699+2134insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding	7/8			chr17	TogoVar
OLFM1_chr9_135082668_135126180	135091691	A A	ACACAGTC others(23): Show ACACAGTCACACACACAGTCTCACACATAGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0037 a0001c0004t0015g0037	1	40	0.0250	30	c.300 others(47): Show c.300+1351_300+1352insGTCACACACACAGTCTCACACATAGTCA CA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
OLFM1_chr9_135082668_135126180	135124656	G G	GAAAGAAA others(23): Show GAAAGAAAGAGAGAGAGAGAGAGAGAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0271 a0001c0002t0003g0271	1	290	0.0034	30	c.44 others(41): Show c.4478_*4479insAAAGAAAGAGAGAGAGAGAGAGAGAGAGAA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding		3477		chr9	TogoVar
OLFM1_chr9_135082668_135126180	135124684	G G	GAAGAAAG others(23): Show GAAGAAAGAAGAAAGAAAGAAAGAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG03139.hp2 HG02630.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0294 a0001c0001t0001g0295	2	202	0.0099	30	c.45 others(41): Show c.4506_*4507insAAGAAAGAAGAAAGAAAGAAAGAAGAAAGA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding		3505		chr9	TogoVar
OLFM3_chr1_101797560_102001926	101998393	G G	GTTCATTA others(23): Show GTTCATTATTTTTTATATCATATTTTGAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0305 a0001c0001t0004g0305	1	304	0.0033	30	c.-15 others(41): Show c.-1578_-1577insAATTCAAAATATGATATAAAAAATAATGAA	OLFM3	ENSG00000118733.17	transcript	ENST00000370103.9	protein_coding		1468		chr1	TogoVar
OMA1_chr1_58475719_58551726	58518216	G G	GGGGGAGA others(23): Show GGGGGAGAGGGGAGAGGGGAGACGGGAGAGA	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	367	0.0027	30	c.121 others(49): Show c.1215+9044_1215+9045insTCTCTCCCGTCTCCCCTCTCCCCTCT CCCC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518264	A A	AGGGGAGA others(23): Show AGGGGAGAGGGGAGAGGGGAGAGGGGAGAGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19068.hp1 HG00544.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0185 a0001c0001t0001g0162 a0001c0001t0001g0185	2	319	0.0063	30	c.121 others(49): Show c.1215+8996_1215+8997insCCTCTCCCCTCTCCCCTCTCCCCTCT CCCC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518272	G G	GGGGAGAG others(23): Show GGGGAGAGGGGAGAGGGGAGAGGGGAGAGGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18970.hp1 HG03486.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0177 a0001c0001t0001g0011 a0001c0001t0001g0177	2	245	0.0082	30	c.121 others(49): Show c.1215+8988_1215+8989insTCCTCTCCCCTCTCCCCTCTCCCCTC TCCC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518284	A A	AGAAGGGA others(23): Show AGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0003 a0003c0004t0001g0003	2	320	0.0063	30	c.121 others(49): Show c.1215+8976_1215+8977insCCTTCCCTTCCCTTCCCTTCCCTTCC CTTC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518299	A A	AGAAGGGA others(23): Show AGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0107 a0003c0004t0001g0107	1	348	0.0029	30	c.121 others(49): Show c.1215+8961_1215+8962insCCTTCCCTTCCCTTCCCTTCCCTTCC CTTC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
ONECUT3_chr19_1748506_1785988	1763366	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0099 a0001c0001t0030g0099	1	5	0.2000	30	c.119 others(49): Show c.1192+8513_1192+8542dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	ONECUT3	ENSG00000205922.5	transcript	ENST00000382349.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
OPA1_chr3_193588208_193702811	193596306	T T	TTTTCCTT others(23): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00741.hp2 HG01934.hp1 others(10): Show HG00544.hp1 HG00741.hp2 HG01934.hp1 HG02523.hp1 HG04204.hp2 NA18966.hp1 NA18978.hp2 NA18986.hp2 NA19006.hp1 NA19012.hp2 NA19054.hp1 NA19067.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0021 a0001c0001t0002 a0001c0001t0012 a0001c0001t0021	a0001c0001t0002g0265 a0001c0001t0002g0270 a0001c0001t0002g0287 others(10): Show a0001c0001t0002g0265 a0001c0001t0002g0270 a0001c0001t0002g0287 a0001c0001t0002g0300 a0001c0001t0002g0313 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0341 a0001c0001t0002g0348 a0001c0001t0012g0285 a0001c0001t0012g0311 a0001c0001t0012g0335 a0001c0001t0021g0255	13	156	0.0833	30	c.32+ others(45): Show c.32+2901_32+2930dupCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	OPA1	ENSG00000198836.11	transcript	ENST00000361510.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr3	TogoVar
OPA3_chr19_45541281_45589802	45572183	G G	GTCTGATA others(23): Show GTCTGATATATATATGAGATATATATATATC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp1 HG02630.hp1 others(6): Show HG01884.hp1 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG03041.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0038 a0001c0001t0087 a0001c0001t0089 others(5): Show a0001c0001t0038 a0001c0001t0087 a0001c0001t0089 a0001c0001t0105 a0001c0001t0106 a0001c0001t0108 a0001c0001t0109 a0001c0002t0127	a0001c0001t0038g0108 a0001c0001t0038g0112 a0001c0001t0087g0031 others(6): Show a0001c0001t0038g0108 a0001c0001t0038g0112 a0001c0001t0087g0031 a0001c0001t0089g0030 a0001c0001t0105g0111 a0001c0001t0106g0116 a0001c0001t0108g0113 a0001c0001t0109g0114 a0001c0002t0127g0110	9	396	0.0227	30	c.142 others(49): Show c.142+12410_142+12439dupGATATATATATATCTCATATATATAT CAGA	OPA3	ENSG00000125741.6	transcript	ENST00000263275.5	protein_coding	1/1			chr19	TogoVar
OPALIN_chr10_96338221_96364002	96361946	A A	ATACAATA others(23): Show ATACAATACAATACAATACAATACAATACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	218	0.0046	30	c.-30 others(41): Show c.-3051_-3050insCTGTATTGTATTGTATTGTATTGTATTGTA	OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding		2945		chr10	TogoVar
OPALIN_chr10_96338221_96364002	96361946	A A	ATACAATA others(23): Show ATACAATACAATACAATACAGTACAGTACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG03098.hp2 HG02738.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0125 a0001c0001t0003g0023 a0001c0001t0002g0125 a0001c0001t0003g0023	2	219	0.0091	30	c.-30 others(41): Show c.-3051_-3050insCTGTACTGTACTGTATTGTATTGTATTGTA	OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding		2945		chr10	TogoVar
OPALIN_chr10_96338221_96364002	96361946	A A	ATACAATA others(23): Show ATACAATACAATACAGTACAGTACAGTACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG03490.hp1 NA18949.hp1 others(1): Show HG01884.hp1 HG03490.hp1 NA18949.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0002g0042 a0001c0001t0002g0095 others(1): Show a0001c0001t0001g0002 a0001c0001t0002g0042 a0001c0001t0002g0095 a0001c0001t0003g0005	4	221	0.0181	30	c.-30 others(41): Show c.-3051_-3050insCTGTACTGTACTGTACTGTATTGTATTGTA	OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding		2945		chr10	TogoVar
OPALIN_chr10_96338221_96364002	96361976	G G	GTACAATA others(23): Show GTACAATACAGTACAGTACAATACAATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	128	0.0078	30	c.-30 others(41): Show c.-3081_-3080insTTGTATTGTATTGTACTGTACTGTATTGTA	OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding		2975		chr10	TogoVar
OPALIN_chr10_96338221_96364002	96361976	G G	GTACAGTA others(23): Show GTACAGTACAGTACAATACAATACAATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02056.hp1 NA18964.hp1 others(8): Show HG02040.hp2 HG02056.hp1 NA18964.hp1 NA18975.hp1 NA18989.hp1 NA18991.hp2 NA19066.hp1 NA19070.hp2 NA19077.hp2 NA19086.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0001 a0001c0001t0002 a0001c0001t0015	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0043 a0001c0001t0002g0054 a0001c0001t0015g0151	11	138	0.0797	30	c.-30 others(41): Show c.-3081_-3080insTTGTATTGTATTGTATTGTACTGTACTGTA	OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding		2975		chr10	TogoVar
OPALIN_chr10_96338221_96364002	96361976	G G	GTACAGTA others(23): Show GTACAGTACAGTACAGTACAATACAATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01069.hp1 HG01978.hp1 others(6): Show HG00558.hp1 HG01069.hp1 HG01978.hp1 HG01981.hp1 HG02071.hp2 HG02523.hp1 HG03579.hp1 NA18957.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0026 a0001c0001t0001 a0001c0001t0006 a0001c0001t0026	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0040 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0040 a0001c0001t0001g0113 a0001c0001t0001g0129 a0001c0001t0001g0167 a0001c0001t0006g0111 a0001c0001t0026g0080	9	136	0.0662	30	c.-30 others(41): Show c.-3081_-3080insTTGTATTGTATTGTACTGTACTGTACTGTA	OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding		2975		chr10	TogoVar

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