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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NUP93_chr16_56725129_56855286	56739617	C C	CAGAGGGG others(18): Show CAGAGGGGCTCCTCACTTCCCAGTAG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	362	0.0028	25	c.-14 others(42): Show c.-14-8617_-14-8616insAGAGGGGCTCCTCACTTCCCAGTAG		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21						chr16	TogoVar
NUP93_chr16_56725129_56855286	56808153	T T	TTTTATAT others(18): Show TTTTATATAGTTACATAACTATATAA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0228 a0001c0001t0004g0228	1	76	0.0132	25	c.489 others(42): Show c.489+2521_489+2522insTTTATATAGTTACATAACTATATAA		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21						chr16	TogoVar
NUP93_chr16_56725129_56855286	56808153	T T	TTTTATAT others(18): Show TTTTATATAGTTATATAACTATATAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00733.hp1 others(16): Show HG00408.hp2 HG00597.hp2 HG00733.hp1 HG01175.hp1 HG01978.hp2 NA18941.hp1 NA18945.hp2 NA18959.hp2 NA18967.hp2 NA18972.hp2 NA18989.hp2 NA18992.hp2 NA18999.hp2 NA19004.hp1 NA19077.hp1 NA19080.hp1 NA19083.hp2 NA19090.hp2 NA20905.hp2	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0015 a0010c0018 a0001c0001 a0003c0015 a0010c0018	a0001c0001t0004 a0001c0001t0035 a0003c0015t0004 others(1): Show a0001c0001t0004 a0001c0001t0035 a0003c0015t0004 a0010c0018t0004	a0001c0001t0004g0003 a0001c0001t0004g0198 a0001c0001t0004g0221 others(16): Show a0001c0001t0004g0003 a0001c0001t0004g0198 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0229 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0035g0003 a0003c0015t0004g0233 a0010c0018t0004g0226	19	94	0.2021	25	c.489 others(42): Show c.489+2521_489+2522insTTTATATAGTTATATAACTATATAA		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21						chr16	TogoVar
NUP93_chr16_56725129_56855286	56808167	A A	ATAACTAT others(18): Show ATAACTATATAAAATATATAGTTATG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0176 a0001c0004t0008g0176	1	361	0.0028	25	c.489 others(42): Show c.489+2559_489+2560insGTAACTATATAAAATATATAGTTAT		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808180	A A	ATATATAG others(18): Show ATATATAGTTATATAACTATATATTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01167.hp2 HG01169.hp2 others(1): Show HG01081.hp2 HG01167.hp2 HG01169.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0360 a0001c0001t0003g0364 a0001c0001t0003g0373 others(1): Show a0001c0001t0003g0360 a0001c0001t0003g0364 a0001c0001t0003g0373 a0001c0001t0003g0374	4	376	0.0106	25	c.489 others(42): Show c.489+2570_489+2571insTTTTATATAGTTATATAACTATATA		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808192	A A	ATAACTAT others(18): Show ATAACTATATAAAATATATAGTTATG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01106.hp1 others(3): Show HG00099.hp2 HG00741.hp1 HG01106.hp1 HG01258.hp2 HG02698.hp1 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0044 a0001c0004t0008 a0001c0004t0044	a0001c0004t0008g0002 a0001c0004t0008g0174 a0001c0004t0008g0175 others(2): Show a0001c0004t0008g0002 a0001c0004t0008g0174 a0001c0004t0008g0175 a0001c0004t0008g0177 a0001c0004t0044g0179	6	319	0.0188	25	c.489 others(42): Show c.489+2819_489+2843dupTAAAATATATAGTTATGTAACTATA		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808205	A A	ATATATAG others(18): Show ATATATAGTTATATAACTATATATTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0191 a0001c0001t0016g0191	1	366	0.0027	25	c.489 others(42): Show c.489+2584_489+2585insATAACTATATATTTTATATAGTTAT		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808217	G G	GTAACTAT others(18): Show GTAACTATATAAAATATATAGTTATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0293 a0001c0001t0002g0293	1	111	0.0090	25	c.489 others(42): Show c.489+2609_489+2610insATAACTATATAAAATATATAGTTAT		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808501	A A	AAATATAT others(18): Show AAATATATAGTTATGTAACTATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0272 a0001c0003t0030g0272	1	328	0.0030	25	c.489 others(42): Show c.489+2870_489+2871insATATATAGTTATGTAACTATATATA		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP98_chr11_3670019_3802554	3707738	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0290 a0001c0003t0002g0290	1	20	0.0500	25	c.274 others(44): Show c.2743-1112_2743-1111insTTTTTTTTTTTTTTTTTTTTTTTTT		NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	20/32						chr11	TogoVar
NUP98_chr11_3670019_3802554	3724780	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	157	0.0064	25	c.184 others(42): Show c.1847+322_1847+323insTTTTTTTTTTTTTTTTTTTTTTTTT		NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	15/32						chr11	TogoVar
NUP98_chr11_3670019_3802554	3729715	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	105	0.0095	25	c.173 others(44): Show c.1730+1651_1730+1675dupTTTTTTTTTTTTTTTTTTTTTTTTT		NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	14/32						chr11	TogoVar
NUTM2G_chr9_96923843_96944416	96930872	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	46	0.0217	25	c.17- others(38): Show c.17-834_17-810dupTTTTTTTTTTTTTTTTTTTTTTTTT		NUTM2G	ENSG00000188152.13	transcript	ENST00000372322.4	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr9	TogoVar
NWD1_chr19_16714847_16822953	16737964	C C	CGAAAAGA others(18): Show CGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA21309.hp1 HG03130.hp2 NA21309.hp1	a0009 a0045 a0009 a0045	a0009c0010 a0045c0051 a0009c0010 a0045c0051	a0009c0010t0010 a0045c0051t0002 a0009c0010t0010 a0045c0051t0002	a0009c0010t0010g0131 a0045c0051t0002g0028 a0009c0010t0010g0131 a0045c0051t0002g0028	2	121	0.0165	25	c.198 others(42): Show c.198+1239_198+1263dupAGAAAAGAAAAGAAAAGAAAAGAAA		NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD1_chr19_16714847_16822953	16760229	C C	CATTTTAT others(18): Show CATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02257.hp2 HG02293.hp2 others(1): Show HG01975.hp1 HG02257.hp2 HG02293.hp2 HG02451.hp2	a0002 a0007 a0027 a0002 a0007 a0027	a0002c0002 a0007c0029 a0027c0053 a0002c0002 a0007c0029 a0027c0053	a0002c0002t0005 a0002c0002t0007 a0007c0029t0002 others(1): Show a0002c0002t0005 a0002c0002t0007 a0007c0029t0002 a0027c0053t0001	a0002c0002t0005g0195 a0002c0002t0007g0041 a0007c0029t0002g0297 others(1): Show a0002c0002t0005g0195 a0002c0002t0007g0041 a0007c0029t0002g0297 a0027c0053t0001g0252	4	37	0.1081	25	c.197 others(42): Show c.1973+824_1973+848dupTTTATTTTATTTTATTTTATTTTAT		NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr19	TogoVar
NXF2B_chrX_102355395_102445008	102435129	A A	AAAAACAA others(18): Show AAAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02004.hp2 HG02027.hp1 others(21): Show HG00673.hp1 HG02004.hp2 HG02027.hp1 HG02074.hp1 HG02135.hp1 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG03486.hp1 HG03492.hp1 HG04199.hp1 NA18946.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18985.hp1 NA18989.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19043.hp1 NA19060.hp1 NA19070.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0002t0001g0020	24	25	0.9600	25	c.-54 others(42): Show c.-54+3423_-54+3424insGTTTTGTTTTGTTTTGTTTTGTTTT		NXF2B	ENSG00000269437.8	transcript	ENST00000602195.6	protein_coding	2/22						chrX	TogoVar
NXNL1_chr19_17450425_17465926	17450797	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG00621.hp2 others(12): Show HG00099.hp1 HG00597.hp2 HG00621.hp2 HG03239.hp2 HG03669.hp2 NA18950.hp1 NA18964.hp1 NA18972.hp1 NA18980.hp2 NA18989.hp1 NA19000.hp2 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0016 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0038 a0001c0001t0001g0047	15	187	0.0802	25	c.48 others(36): Show c.4849_*4850insAAAAAAAAAAAAAAAAAAAAAAAAA		NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding					4627		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02735.hp2 HG03453.hp1 HG01109.hp1 HG02735.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0090 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0090	3	199	0.0151	25	c.25 others(36): Show c.2531_*2532insATATATATATATATATATATATATA		NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding					2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 NA18944.hp1 HG02074.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0101 a0001c0001t0001g0003 a0001c0001t0001g0101	2	198	0.0101	25	c.25 others(36): Show c.2531_*2532insAAAAATATATATATATATATATATA		NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding					2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 NA18954.hp1 NA18975.hp2 others(1): Show HG02615.hp1 NA18954.hp1 NA18975.hp2 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0037 a0002c0002t0002g0005 a0002c0002t0002g0019 a0001c0001t0001g0037 a0002c0002t0002g0005 a0002c0002t0002g0019	4	200	0.0200	25	c.25 others(36): Show c.2531_*2532insAAAAAAAAATATATATATATATATA		NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding					2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17455721	C C	CCACGCGG others(18): Show CCACGCGGTACTTGTGGCGGCGCAGG	frameshift_variant frameshift_variant	HIGH	NA20300.hp2 NA20300.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0040 a0006c0008t0001g0040	1	406	0.0025	25	c.540 others(32): Show c.540_564dupCCTGCGCCGCCACAAGTACCGCGTG	p.Glu others(5): Show p.Glu189fs	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding	2/2	621/918	564/639	188/212			chr19	TogoVar
NXN_chr17_794310_984776	839797	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0134 a0001c0001t0029g0134	1	70	0.0143	25	c.361 others(44): Show c.361-13720_361-13719insTTTTTTTTTTTTTTTTTTTTTTTTT		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	853723	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0019 a0001c0001t0021g0019	1	118	0.0085	25	c.361 others(44): Show c.361-27646_361-27645insAAATATATATATATATATATATATA		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	876249	G G	GAAGAAAA others(18): Show GAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0073 a0001c0001t0007g0073	1	177	0.0056	25	c.361 others(44): Show c.361-50172_361-50171insTTCTTTTCTTTTCTTTTCTTTTCTT		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXPH1_chr7_8428609_8757961	8461843	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	123	0.0081	25	c.54+ others(42): Show c.54+26084_54+26085insAAAAAAAAAAAAAAAAGAAAAAAAA		NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH1_chr7_8428609_8757961	8678928	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01934.hp2 HG02523.hp1 HG00639.hp1 HG01934.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0016 a0001c0001t0002g0085 a0001c0001t0015g0201 a0001c0001t0002g0016 a0001c0001t0002g0085 a0001c0001t0015g0201	3	21	0.1429	25	c.55- others(42): Show c.55-72069_55-72045dupTTTTTTTTTTTTTTTTTTTTTTTTT		NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH2_chr2_138664157_138785390	138707094	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03130.hp1 HG03654.hp1 others(1): Show HG00735.hp2 HG03130.hp1 HG03654.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0100 a0001c0002t0001g0053 a0001c0002t0001g0080 others(1): Show a0001c0001t0001g0100 a0001c0002t0001g0053 a0001c0002t0001g0080 a0001c0002t0001g0240	4	18	0.2222	25	c.52- others(42): Show c.52-35430_52-35429insTTTTTTTTTTTTTTTTTTTTTTTTT		NXPH2	ENSG00000144227.5	transcript	ENST00000272641.4	protein_coding	1/1						chr2	TogoVar
NYNRIN_chr14_24394003_24424283	24406201	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03017.hp1 HG03669.hp1 others(5): Show HG00408.hp1 HG03017.hp1 HG03669.hp1 HG03834.hp2 NA18962.hp2 NA18991.hp2 NA19058.hp2 NA19079.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0002c0002t0003 a0002c0002t0009 others(3): Show a0001c0001t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0014 a0003c0003t0003 a0003c0003t0032	a0001c0001t0002g0125 a0002c0002t0003g0036 a0002c0002t0009g0117 others(5): Show a0001c0001t0002g0125 a0002c0002t0003g0036 a0002c0002t0009g0117 a0002c0002t0009g0172 a0002c0002t0009g0213 a0002c0002t0014g0036 a0003c0003t0003g0126 a0003c0003t0032g0123	8	91	0.0879	25	c.199 others(42): Show c.199-1641_199-1617dupAAATAAAATAAAATAAAATAAAATA		NYNRIN	ENSG00000205978.6	transcript	ENST00000382554.4	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr14	TogoVar
OAF_chr11_120206032_120235334	120225839	A A	AGCAGACC others(18): Show AGCAGACCCGGCCCAGATCCCGTCCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp1 HG02922.hp2 others(1): Show HG01109.hp1 HG02145.hp1 HG02922.hp2 HG03098.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0020 a0001c0006t0004g0020	4	398	0.0101	25	c.366 others(38): Show c.366+64_366+65insGTCCCGCAGACCCGGCCCAGATCCC		OAF	ENSG00000184232.9	transcript	ENST00000328965.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr11	TogoVar
OAS2_chr12_112973519_113016723	112981935	A A	AGTTAAAT others(18): Show AGTTAAATGCATTCCTAGGTATTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18947.hp1 NA18946.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0202 a0001c0001t0002g0203	2	378	0.0053	25	c.177 others(42): Show c.177+3158_177+3182dupGCATTCCTAGGTATTTTTGTTAAAT		OAS2	ENSG00000111335.14	transcript	ENST00000392583.7	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
OBP2A_chr9_135541126_135554969	135544761	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03041.hp1 HG02895.hp1 HG02897.hp1 HG03041.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0001 a0002c0002t0002 a0004c0004t0001	a0002c0002t0002g0124 a0002c0002t0002g0126 a0004c0004t0001g0016 a0002c0002t0002g0124 a0002c0002t0002g0126 a0004c0004t0001g0016	3	54	0.0556	25	c.-14 others(36): Show c.-1420_-1419insAAAAAAAAAAAAAAAAAAAAAAAAA		OBP2A	ENSG00000122136.14	transcript	ENST00000371776.6	protein_coding					1364		chr9	TogoVar
OBSCN_chr1_228203044_228383876	228341728	A A	AGACGGCT others(18): Show AGACGGCTCAGCCAGCTGTGGCATGG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0044 a0044	a0044c0025 a0044c0025	a0044c0025t0003 a0044c0025t0003	a0044c0025t0003g0301 a0044c0025t0003g0301	1	141	0.0071	25	c.209 others(44): Show c.20905+121_20905+122insCAGCCAGCTGTGGCATGGGACGGCT		OBSCN	ENSG00000154358.23	transcript	ENST00000680850.1	protein_coding	85/115					INFO_REALIGN_3_PRIME	chr1	TogoVar
OCA2_chr15_27749875_28104315	28069402	C C	CTCCCTCT others(18): Show CTCCCTCTCCCTCTCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp2 HG03540.hp1 HG02257.hp1 HG02486.hp2 HG03540.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0027 a0002c0009 a0004c0017 a0001c0027 a0002c0009 a0004c0017	a0001c0027t0001 a0002c0009t0001 a0004c0017t0001 a0001c0027t0001 a0002c0009t0001 a0004c0017t0001	a0001c0027t0001g0030 a0002c0009t0001g0106 a0004c0017t0001g0109 a0001c0027t0001g0030 a0002c0009t0001g0106 a0004c0017t0001g0109	3	75	0.0400	25	c.227 others(44): Show c.227+12245_227+12246insAGAGGGAGAGGGAGAGGGAGAGGGA		OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	2/23						chr15	TogoVar
OCEL1_chr19_17221226_17234219	17222799	C C	CGTGAACC others(18): Show CGTGAACCCAGGAGGCAGAGCTTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	442	0.0023	25	c.-34 others(36): Show c.-3449_-3448insGTGAACCCAGGAGGCAGAGCTTGCA		OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding					3426		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17229556	T T	TAAGGCGC others(18): Show TAAGGCGCAACAGCCGCCCATCGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	442	0.0023	25	c.63 others(34): Show c.631_*632insAAGGCGCAACAGCCGCCCATCGAAG		OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding					338		chr19	TogoVar
OCSTAMP_chr20_46535946_46555654	46542574	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02559.hp2 others(6): Show HG01884.hp2 HG02145.hp1 HG02559.hp2 HG02615.hp1 HG02647.hp2 HG03225.hp2 HG03516.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0067 a0001c0002t0002g0091 a0001c0002t0002g0114 others(6): Show a0001c0002t0002g0067 a0001c0002t0002g0091 a0001c0002t0002g0114 a0001c0002t0002g0128 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0160 a0001c0002t0002g0172 a0001c0002t0002g0189	9	334	0.0269	25	c.104 others(42): Show c.1048-648_1048-647insTTTTTTTTTTTTTTTTTTTTTTTTT		OCSTAMP	ENSG00000149635.3	transcript	ENST00000279028.3	protein_coding	2/2						chr20	TogoVar
ODAD1_chr19_48291462_48326971	48315520	G G	GGTGACAG others(18): Show GGTGACAGAGCGAGACTCCATCTCTA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0059 a0001c0002t0003g0059	1	396	0.0025	25	c.360 others(42): Show c.360+2842_360+2866dupTAGAGATGGAGTCTCGCTCTGTCAC		ODAD1	ENSG00000105479.16	transcript	ENST00000674294.1	protein_coding	5/15						chr19	TogoVar
ODAD2_chr10_27807168_28004079	27924046	A A	AGAGAGAA others(18): Show AGAGAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0051 a0004c0004t0001g0051	1	302	0.0033	25	c.249 others(46): Show c.2495+10963_2495+10964insCTTTCTTTCTTTCTTTCTTTCTCT C		ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	16/19						chr10	TogoVar
ODAD2_chr10_27807168_28004079	27952074	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03209.hp1 HG03098.hp1 HG03209.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0267 a0009c0016t0001g0268 a0009c0016t0001g0267 a0009c0016t0001g0268	2	147	0.0136	25	c.138 others(44): Show c.1387-7113_1387-7112insTTTTTTTTTTTTTTTTTTTTTTTTT		ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	10/19						chr10	TogoVar
ODAD4_chr17_41925617_41971503	41930881	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	19	0.0526	25	c.114 others(38): Show c.114+49_114+73dupTTTTTTTTTTTTTTTTTTTTTTTTT		ODAD4	ENSG00000204815.10	transcript	ENST00000377540.6	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA20805.hp1 HG00438.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0040 a0001c0001t0004g0010 a0001c0001t0002g0040 a0001c0001t0004g0010	2	70	0.0286	25	c.669 others(40): Show c.669+666_669+667insAAAAAAAAATATATATATATATATA		ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20					INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	69	0.0145	25	c.669 others(40): Show c.669+666_669+667insAAATATATATATATATATATATATA		ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20					INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 NA18956.hp1 HG01256.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0272 a0001c0001t0004g0182 a0001c0001t0001g0272 a0001c0001t0004g0182	2	70	0.0286	25	c.669 others(40): Show c.669+665_669+666insTATATATATATATATATATATATAT		ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20						chr9	TogoVar
ODF2_chr9_128451006_128506292	128497444	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	287	0.0035	25	c.226 others(42): Show c.2262-969_2262-968insTATATATATATATATATATATATAT		ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	18/20						chr9	TogoVar
ODF2_chr9_128451006_128506292	128497446	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	216	0.0046	25	c.226 others(42): Show c.2262-966_2262-965insAAATATATATATATATATATATATA		ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF3L2_chr19_458361_479983	477514	G G	GTGGAGGT others(18): Show GTGGAGGTTGCACCACTGAGCCAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0099 a0002c0001t0001g0099	1	322	0.0031	25	c.-27 others(36): Show c.-2768_-2767insTCCTGGCTCAGTGGTGCAACCTCCA		ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding					2532		chr19	TogoVar
ODF3_chr11_191761_205258	196113	C C	CTGGTGAG others(18): Show CTGGTGAGGGGACATGGGGGGGACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02723.hp1 HG02970.hp1 others(2): Show HG01884.hp2 HG02723.hp1 HG02970.hp1 HG03225.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	5	228	0.0219	25	c.-94 others(34): Show c.-942_-941insTGGTGAGGGGACATGGGGGGGACCT		ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding					647		chr11	TogoVar
OGDH_chr7_44601627_44714066	44669145	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0234 a0001c0002t0001g0234	1	132	0.0076	25	c.633 others(42): Show c.633+2295_633+2319dupTTTTTTTTTTTTTTTTTTTTTTTTT		OGDH	ENSG00000105953.16	transcript	ENST00000222673.6	protein_coding	5/22					INFO_REALIGN_3_PRIME	chr7	TogoVar
OGDH_chr7_44601627_44714066	44705051	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0156	1	141	0.0071	25	c.263 others(44): Show c.2633-2155_2633-2154insTTTTTTTTTTTTTTTTTTTTTTTTT		OGDH	ENSG00000105953.16	transcript	ENST00000222673.6	protein_coding	20/22					INFO_REALIGN_3_PRIME	chr7	TogoVar
OGFOD1_chr16_56446554_56484104	56480352	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	295	0.0034	25	c.41 others(36): Show c.4147_*4148insAAAAAAAAAAAAAAAAAAAAAAAAA		OGFOD1	ENSG00000087263.17	transcript	ENST00000566157.6	protein_coding					1249		chr16	TogoVar

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