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
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(16): Show ATTTATTTATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01169.hp1 HG01516.hp1 others(4): Show HG00423.hp2 HG01169.hp1 HG01516.hp1 HG02293.hp2 HG04199.hp1 NA19081.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0001c0001t0001 a0002c0002t0001 a0002c0003t0001	a0001c0001t0001g0027 a0001c0001t0001g0114 a0001c0001t0001g0230 others(4): Show a0001c0001t0001g0027 a0001c0001t0001g0114 a0001c0001t0001g0230 a0002c0002t0001g0193 a0002c0002t0001g0195 a0002c0002t0001g0203 a0002c0003t0001g0016	7	27	0.2593	23	c.590 others(40): Show c.5902+800_5902+801insATTTATTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(16): Show ATTTATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02027.hp2 HG02523.hp2 others(5): Show HG00558.hp2 HG02027.hp2 HG02523.hp2 HG03491.hp1 HG03688.hp2 HG04184.hp2 NA18968.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0001c0001t0001 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0073 a0001c0001t0001g0170 others(5): Show a0001c0001t0001g0008 a0001c0001t0001g0073 a0001c0001t0001g0170 a0001c0004t0001g0209 a0002c0002t0001g0142 a0002c0002t0001g0144 a0002c0002t0001g0187 a0002c0002t0001g0188	8	28	0.2857	23	c.590 others(40): Show c.5902+800_5902+801insATTTTTTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03195.hp2 NA18948.hp2 others(1): Show HG02132.hp1 HG03195.hp2 NA18948.hp2 NA19055.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0008 a0001c0001t0001 a0002c0002t0001 a0002c0002t0008	a0001c0001t0001g0217 a0002c0002t0001g0151 a0002c0002t0001g0181 others(1): Show a0001c0001t0001g0217 a0002c0002t0001g0151 a0002c0002t0001g0181 a0002c0002t0008g0148	4	24	0.1667	23	c.590 others(40): Show c.5902+800_5902+822dupTTTTTTTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP35_chr2_183119443_183166680	183138269	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	160	0.0063	23	c.397 others(40): Show c.397+4647_397+4648insATATATATATATATATATATATT	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
NUP35_chr2_183119443_183166680	183138269	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	160	0.0063	23	c.397 others(40): Show c.397+4647_397+4648insATATATATATATATATATATTTT	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
NUP35_chr2_183119443_183166680	183138269	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0076	1	160	0.0063	23	c.397 others(40): Show c.397+4647_397+4648insATATATATATATATATATTTTTT	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
NUP35_chr2_183119443_183166680	183138270	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	396	0.0025	23	c.397 others(40): Show c.397+4647_397+4648insATATATATATATATATATATATA	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding	4/8			chr2	TogoVar
NUP93_chr16_56725129_56855286	56808182	A A	ATATAGTT others(16): Show ATATAGTTATATAACTATATATTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0007 a0007c0013t0007	a0007c0013t0007g0190 a0007c0013t0007g0190	1	376	0.0027	23	c.489 others(40): Show c.489+2570_489+2571insTTTTATAGTTATATAACTATATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808223	A A	ATATAAAA others(16): Show ATATAAAATATATAGTTATATAAC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	375	0.0027	23	c.489 others(40): Show c.489+2609_489+2610insATAACTATAAAATATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808448	A A	ATATAAAA others(16): Show ATATAAAATATATAGTTACGTAAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0186 a0001c0005t0007g0186	1	272	0.0037	23	c.489 others(40): Show c.489+2833_489+2834insCGTAACTATAAAATATATAGTTA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808448	A A	ATATAAAA others(16): Show ATATAAAATATATAGTTATGTAAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	272	0.0037	23	c.489 others(40): Show c.489+2844_489+2866dupAAATATATAGTTATGTAACTATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56827044	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0191 a0001c0001t0016g0191	1	64	0.0156	23	c.795 others(40): Show c.795-1930_795-1908dupAAAAAAAAAAAAAAAAAAAAAAA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56827069	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0365 a0001c0001t0003g0365	1	347	0.0029	23	c.795 others(40): Show c.795-1908_795-1907insAAAAAAAAAAAAAAAAAAAAAAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	8/21			chr16	TogoVar
NUP98_chr11_3670019_3802554	3707738	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03453.hp2 HG04184.hp2 others(6): Show HG01109.hp2 HG03453.hp2 HG04184.hp2 NA18962.hp1 NA18974.hp2 NA18983.hp1 NA19009.hp1 NA19011.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0001t0001 a0001c0002t0001 a0001c0003t0002	a0001c0001t0001g0112 a0001c0001t0001g0136 a0001c0001t0001g0138 others(6): Show a0001c0001t0001g0112 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0161 a0001c0002t0001g0091 a0001c0002t0001g0269 a0001c0003t0002g0313 a0001c0003t0002g0323	9	28	0.3214	23	c.274 others(42): Show c.2743-1112_2743-1111insTTTTTTTTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	20/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3724780	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19066.hp1 HG00597.hp2 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0281 a0001c0002t0001g0326 a0001c0002t0001g0281 a0001c0002t0001g0326	2	158	0.0127	23	c.184 others(40): Show c.1847+322_1847+323insTTTTTTTTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	15/32			chr11	TogoVar
NUPR2_chr7_56109681_56121417	56115625	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	114	0.0088	23	c.6+ others(36): Show c.6+389_*6+390insTATATATATATATATATATATAT	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NWD1_chr19_16714847_16822953	16738782	A A	ATATTATA others(16): Show ATATTATATATATATAATATAATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0007 a0007	a0007c0029 a0007c0029	a0007c0029t0002 a0007c0029t0002	a0007c0029t0002g0298 a0007c0029t0002g0298	1	297	0.0034	23	c.198 others(40): Show c.198+2032_198+2033insTATTATATATATATAATATAATG	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	4/18			chr19	TogoVar
NXNL1_chr19_17450425_17465926	17450797	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01168.hp2 HG02683.hp1 others(1): Show HG01070.hp1 HG01168.hp2 HG02683.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0062 a0001c0001t0001g0064 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065	4	176	0.0227	23	c.48 others(34): Show c.4849_*4850insAAAAAAAAAAAAAAAAAAAAAAA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		4627		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453089	T T	TATATATA others(16): Show TATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	280	0.0036	23	c.25 others(34): Show c.2557_*2558insTATATATATATATATATATATAT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2335		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	197	0.0051	23	c.25 others(34): Show c.2531_*2532insATATATATATATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	197	0.0051	23	c.25 others(34): Show c.2531_*2532insAAATATATATATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0008 a0003c0003t0003g0008	2	198	0.0101	23	c.25 others(34): Show c.2531_*2532insAAAAATATATATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01346.hp1 HG00280.hp2 HG01346.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0009 a0002c0002t0002g0005 a0001c0001t0002g0009 a0002c0002t0002g0005	2	198	0.0101	23	c.25 others(34): Show c.2531_*2532insAAAAAAAAAAATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02602.hp1 HG03490.hp2 others(2): Show HG00438.hp1 HG02602.hp1 HG03490.hp2 HG03492.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0009 a0001c0001t0002g0084 a0002c0002t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0084 a0002c0002t0002g0005	5	201	0.0249	23	c.25 others(34): Show c.2531_*2532insAAAAAAAAAAAAATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453116	T T	TATATATA others(16): Show TATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	354	0.0028	23	c.25 others(34): Show c.2530_*2531insTATATATATATATATATATATAT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2308		chr19	TogoVar
NXN_chr17_794310_984776	839797	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01106.hp1 HG02015.hp1 others(3): Show HG00621.hp2 HG01106.hp1 HG02015.hp1 HG02155.hp2 HG03704.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0166 a0001c0001t0002g0050 a0001c0001t0002g0056 others(3): Show a0001c0001t0001g0166 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0003g0097 a0001c0001t0003g0210 a0001c0001t0004g0224	6	75	0.0800	23	c.361 others(42): Show c.361-13720_361-13719insTTTTTTTTTTTTTTTTTTTTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXPH1_chr7_8428609_8757961	8621490	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02148.hp1 HG03831.hp1 others(1): Show HG01928.hp1 HG02148.hp1 HG03831.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0082 a0001c0001t0001g0101 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0082 a0001c0001t0001g0101 a0001c0001t0001g0158	4	179	0.0223	23	c.55- others(42): Show c.55-129504_55-129503insTTTTTTTTTTTTTTTTTTTTTTT	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(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19064.hp1 NA19091.hp2 HG00438.hp1 NA19064.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0154 a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0154	3	21	0.1429	23	c.55- others(40): Show c.55-72067_55-72045dupTTTTTTTTTTTTTTTTTTTTTTT	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(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00738.hp2 HG00741.hp1 others(21): Show HG00673.hp1 HG00738.hp2 HG00741.hp1 HG01099.hp2 HG01175.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG02056.hp2 HG02074.hp1 HG02129.hp1 HG03831.hp1 HG04228.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18979.hp2 NA19007.hp1 NA19060.hp1 NA19070.hp2 NA19082.hp2 NA19088.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0003 a0001c0002t0001 a0002c0006t0003 a0001c0001t0003 a0001c0002t0001 a0002c0006t0003	a0001c0001t0003g0021 a0001c0001t0003g0040 a0001c0001t0003g0061 others(21): Show a0001c0001t0003g0021 a0001c0001t0003g0040 a0001c0001t0003g0061 a0001c0001t0003g0088 a0001c0001t0003g0158 a0001c0001t0003g0168 a0001c0001t0003g0189 a0001c0001t0003g0199 a0001c0001t0003g0234 a0001c0001t0003g0239 a0001c0001t0003g0254 a0001c0001t0003g0286 a0001c0001t0003g0290 a0001c0001t0003g0323 a0001c0002t0001g0024 a0001c0002t0001g0046 a0001c0002t0001g0070 a0001c0002t0001g0093 a0001c0002t0001g0266 a0001c0002t0001g0271 a0001c0002t0001g0275 a0001c0002t0001g0291 a0001c0002t0001g0296 a0002c0006t0003g0119	24	38	0.6316	23	c.52- others(40): Show c.52-35430_52-35429insTTTTTTTTTTTTTTTTTTTTTTT	NXPH2	ENSG00000144227.5	transcript	ENST00000272641.4	protein_coding	1/1			chr2	TogoVar
NYAP2_chr2_225394710_225708654	225597512	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0047 a0001c0001t0004g0047	1	42	0.0238	23	c.161 others(44): Show c.1618+14477_1618+14478insTATATATATATATATATATATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7			chr2	TogoVar
OAS3_chr12_112933474_112978251	112934536	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0205 a0002c0004t0003g0205	1	366	0.0027	23	c.-39 others(34): Show c.-3995_-3994insAAGAAAGAAAGAAAGAAAGAAAG	OAS3	ENSG00000111331.14	transcript	ENST00000228928.12	protein_coding		3937		chr12	TogoVar
OCRL_chrX_129535259_129597556	129542423	T T	TATATAAA others(16): Show TATATAAACTATAGTTTTAAATAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	273	0.0037	23	c.119 others(40): Show c.119+1617_119+1639dupTAAATACATATAAACTATAGTTT	OCRL	ENSG00000122126.18	transcript	ENST00000371113.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chrX	TogoVar
OCSTAMP_chr20_46535946_46555654	46542574	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02970.hp2 HG02486.hp1 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0043 a0001c0002t0002g0043	2	327	0.0061	23	c.104 others(40): Show c.1048-648_1048-647insTTTTTTTTTTTTTTTTTTTTTTT	OCSTAMP	ENSG00000149635.3	transcript	ENST00000279028.3	protein_coding	2/2			chr20	TogoVar
ODAD2_chr10_27807168_28004079	27885787	A A	ATATATTA others(16): Show ATATATTATATATAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18999.hp2 NA19065.hp2 others(1): Show NA18984.hp1 NA18999.hp2 NA19065.hp2 NA19066.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0220 a0004c0004t0001g0221 a0004c0004t0001g0222 others(1): Show a0004c0004t0001g0220 a0004c0004t0001g0221 a0004c0004t0001g0222 a0004c0004t0001g0235	4	302	0.0132	23	c.261 others(44): Show c.2610+21875_2610+21876insATATATATTTTATATATAATATA	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	17/19			chr10	TogoVar
ODAD2_chr10_27807168_28004079	27952074	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0005 a0001c0014t0005	a0001c0014t0005g0213 a0001c0014t0005g0213	1	146	0.0068	23	c.138 others(42): Show c.1387-7113_1387-7112insTTTTTTTTTTTTTTTTTTTTTTT	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	10/19			chr10	TogoVar
ODF2L_chr1_86341837_86401323	86400628	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	145	0.0069	23	c.-46 others(34): Show c.-4656_-4655insATATATATATATATATATATATA	ODF2L	ENSG00000122417.16	transcript	ENST00000460698.7	protein_coding		4306		chr1	TogoVar
ODF2_chr9_128451006_128506292	128470014	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03688.hp1 HG02976.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0238 a0001c0001t0003g0009 a0001c0001t0001g0238 a0001c0001t0003g0009	2	265	0.0075	23	c.669 others(38): Show c.669+661_669+662insTATATATATATATATATATATAT	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20			chr9	TogoVar
ODF2_chr9_128451006_128506292	128470016	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18981.hp2 NA18957.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0097 a0001c0001t0005g0111 a0001c0001t0002g0097 a0001c0001t0005g0111	2	220	0.0091	23	c.669 others(38): Show c.669+663_669+664insTATATATATATATATATATATAT	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20			chr9	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	69	0.0145	23	c.669 others(38): Show c.669+666_669+667insAAAAAAATATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01496.hp2 HG00621.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0201 a0001c0001t0002g0008 a0001c0001t0001g0201 a0001c0001t0002g0008	2	70	0.0286	23	c.669 others(38): Show c.669+666_669+667insAAAAATATATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	69	0.0145	23	c.669 others(38): Show c.669+666_669+667insATATATATATATATATATATATA	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(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA20129.hp1 NA19009.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0003 a0001c0001t0001 a0001c0009t0003	a0001c0001t0001g0194 a0001c0009t0003g0174 a0001c0001t0001g0194 a0001c0009t0003g0174	2	70	0.0286	23	c.669 others(38): Show c.669+665_669+666insTATATATATATATATATATATAT	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20			chr9	TogoVar
ODF2_chr9_128451006_128506292	128497446	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	216	0.0046	23	c.226 others(40): Show c.2262-966_2262-965insAAAAAAATATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
OGDH_chr7_44601627_44714066	44669145	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	132	0.0076	23	c.633 others(40): Show c.633+2297_633+2319dupTTTTTTTTTTTTTTTTTTTTTTT	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(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19063.hp2 HG02615.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0010 a0001c0002t0001 a0001c0002t0010	a0001c0002t0001g0186 a0001c0002t0010g0042 a0001c0002t0001g0186 a0001c0002t0010g0042	2	142	0.0141	23	c.263 others(42): Show c.2633-2155_2633-2154insTTTTTTTTTTTTTTTTTTTTTTT	OGDH	ENSG00000105953.16	transcript	ENST00000222673.6	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
OGFOD1_chr16_56446554_56484104	56480350	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0008 a0001c0009t0002g0008	1	412	0.0024	23	c.41 others(34): Show c.4145_*4146insAAAAAAAAAAAAAAAAAAAAAAA	OGFOD1	ENSG00000087263.17	transcript	ENST00000566157.6	protein_coding		1247		chr16	TogoVar
OGFOD1_chr16_56446554_56484104	56480352	C C	CACAAAAA others(16): Show CACAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 NA19062.hp1 HG02257.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0012 a0001c0002t0002g0063 a0001c0001t0002g0012 a0001c0002t0002g0063	2	296	0.0068	23	c.41 others(34): Show c.4147_*4148insACAAAAAAAAAAAAAAAAAAAAA	OGFOD1	ENSG00000087263.17	transcript	ENST00000566157.6	protein_coding		1249		chr16	TogoVar
OGFOD3_chr17_82384210_82423586	82401803	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01891.hp1 HG02970.hp1 others(4): Show HG01516.hp1 HG01891.hp1 HG02970.hp1 HG03471.hp2 HG03540.hp2 HG04115.hp2 NA19005.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0005 a0001c0004t0002 a0001c0004t0005	a0001c0004t0002g0077 a0001c0004t0002g0102 a0001c0004t0002g0295 others(4): Show a0001c0004t0002g0077 a0001c0004t0002g0102 a0001c0004t0002g0295 a0001c0004t0005g0066 a0001c0004t0005g0067 a0001c0004t0005g0096 a0001c0004t0005g0263	7	158	0.0443	23	c.699 others(40): Show c.699+2133_699+2134insTTTTTTTTTTTTTTTTTTTTTTT	OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding	7/8			chr17	TogoVar
OGFOD3_chr17_82384210_82423586	82401812	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0072 a0001c0004t0002g0072	1	346	0.0029	23	c.699 others(40): Show c.699+2124_699+2125insGTTTTTTTTTTTTTTTTTTTTTT	OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding	7/8			chr17	TogoVar
OGFR_chr20_62799835_62819000	62800191	T T	TGAAGGCC others(16): Show TGAAGGCCACCCCCACCCACCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	420	0.0024	23	c.-46 others(34): Show c.-4669_-4668insGAAGGCCACCCCCACCCACCTGG	OGFR	ENSG00000060491.17	transcript	ENST00000290291.10	protein_coding		4643		chr20	TogoVar

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