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
NUP160_chr11_47773118_47853350	47775212	G G	GAAAAAAA others(37): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	334	0.0030	44	c.38 others(55): Show c.3892_*3893insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2905		chr11	TogoVar
NUP205_chr7_135552917_135653753	135570714	A A	ATTATATT others(37): Show ATTATATTAATATATTAATTATATTAATATATTATATTAATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0314 a0001c0003t0001g0314	1	334	0.0030	44	c.29- others(57): Show c.29-391_29-390insTTATATTAATATATTAATTATATTAATATATT ATATTAATATAT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42			chr7	TogoVar
NUP210L_chr1_153987690_154160073	154125622	A A	AAAGGAAG others(37): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01099.hp1 others(13): Show HG01069.hp1 HG01071.hp2 HG01099.hp1 HG02056.hp2 HG02273.hp1 HG02698.hp1 HG02698.hp2 HG03017.hp2 HG03704.hp2 HG04228.hp1 NA18747.hp1 NA18942.hp1 NA18968.hp1 NA18979.hp2 NA19007.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0001c0014 a0002c0002 others(2): Show a0001c0001 a0001c0014 a0002c0002 a0004c0005 a0008c0016	a0001c0001t0001 a0001c0014t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0014t0001 a0002c0002t0001 a0004c0005t0001 a0008c0016t0001	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0021 others(13): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0103 a0001c0001t0001g0196 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0242 a0001c0001t0001g0269 a0001c0014t0001g0048 a0002c0002t0001g0229 a0004c0005t0001g0227 a0004c0005t0001g0228 a0008c0016t0001g0072	16	38	0.4211	44	c.132 others(61): Show c.1326+657_1326+700dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTT	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	10/39			chr1	TogoVar
NUP210L_chr1_153987690_154160073	154140666	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	280	0.0036	44	c.567 others(59): Show c.567-715_567-714insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	4/39			chr1	TogoVar
NUP210_chr3_13311235_13425322	13377853	A A	ACCACCCA others(37): Show ACCACCCACCTGCAGGCCCCACACCACTTACCTGGAGGCCCCACT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0018 a0018	a0018c0020 a0018c0020	a0018c0020t0001 a0018c0020t0001	a0018c0020t0001g0192 a0018c0020t0001g0192	1	324	0.0031	44	c.104 others(61): Show c.1046-292_1046-291insAGTGGGGCCTCCAGGTAAGTGGTGTGGG GCCTGCAGGTGGGTGG	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding	8/39			chr3	TogoVar
NUP54_chr4_76109664_76153397	76125752	G G	GGAGAGAG others(37): Show GGAGAGAGGGAGAGAGGGAGAGAGGGGGAGAGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0232 a0003c0003t0001g0232	1	297	0.0034	44	c.105 others(61): Show c.1057-997_1057-996insTCCCTCTCTCCCTCTCTCCCCCTCTCTC CCTCTCTCCCTCTCTC	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11			chr4	TogoVar
NUP54_chr4_76109664_76153397	76125752	G G	GGAGAGGG others(37): Show GGAGAGGGGGAGAGAGGGAGAGAGGGGGAGAGGGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0118 a0001c0001t0004g0118	1	297	0.0034	44	c.105 others(61): Show c.1057-997_1057-996insTCCCTCTCTCCCCCTCTCCCCCTCTCTC CCTCTCTCCCCCTCTC	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11			chr4	TogoVar
NUP62CL_chrX_107118427_107211433	107204845	T T	TTTAAATA others(37): Show TTTAAATAAATTTTAAATAAATTATTTAAATAAATTTTAAATAAA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA19002.hp2 NA18957.hp1 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0171 a0002c0002t0001g0143 a0002c0002t0001g0171	2	267	0.0075	44	c.-92 others(61): Show c.-92+1427_-92+1428insTTTATTTAAAATTTATTTAAATAATTTA TTTAAAATTTATTTAA	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	1/8			chrX	TogoVar
NUP93_chr16_56725129_56855286	56808288	T T	TTATATAA others(37): Show TTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03453.hp1 NA21309.hp1 HG01884.hp2 HG03453.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0217 a0001c0001t0014g0218 a0001c0001t0014g0219 a0001c0001t0014g0217 a0001c0001t0014g0218 a0001c0001t0014g0219	3	376	0.0080	44	c.489 others(61): Show c.489+2659_489+2660insATAACTATATAAAATATATAGTTATATA ACTATATAAAATATAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535503	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp2 HG01361.hp2 NA19080.hp1 HG01346.hp2 HG01361.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	3	261	0.0115	44	c.21 others(55): Show c.2179_*2180insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2515		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535560	T T	TTTCCTTC others(37): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0095 a0001c0001t0007g0095	1	311	0.0032	44	c.21 others(55): Show c.2122_*2123insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2458		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(37): Show CTTTCTTTCTTTCCTTCCTTCTTTCTTTCTTTCCTTCCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	304	0.0033	44	c.21 others(55): Show c.2119_*2120insAAAGAAAGGAAGGAAAGAAAGAAAGAAGGAAGGA AAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(37): Show CTTTCTTTCTTTCCTTCCTTCTTTCTTTCTTTCCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	304	0.0033	44	c.21 others(55): Show c.2119_*2120insAAAGAAAGAAAGGAAAGAAAGAAAGAAGGAAGGA AAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(37): Show CTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	304	0.0033	44	c.21 others(55): Show c.2119_*2120insAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAGGA AAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(37): Show CTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	304	0.0033	44	c.21 others(55): Show c.2119_*2120insAAAGGAAAGAAAGAAAGAAAGAAGGAAAGAAAGA AAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(37): Show CTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	304	0.0033	44	c.21 others(55): Show c.2119_*2120insAAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGA AAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(37): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	304	0.0033	44	c.21 others(55): Show c.2119_*2120insAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535567	C C	CTTTCTTT others(37): Show CTTTCTTTCTTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0029 a0001c0001t0030g0029	1	258	0.0039	44	c.21 others(55): Show c.2115_*2116insAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGA AAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2451		chr16	TogoVar
NUPR2_chr7_56109681_56121417	56115415	A A	ACACATAT others(37): Show ACACATATGTATATATATATATATATATACGTATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA19081.hp1 HG04228.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0129 a0001c0001t0001g0113 a0001c0001t0001g0129	2	328	0.0061	44	c.7- others(57): Show c.7-519_*7-518insCACACATATATATACGTATATATATATATATA TATACATATGTG	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115415	A A	ACACATAT others(37): Show ACACATATGTATATATATATATATATATATACGTATATATATGTG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02083.hp2 HG02602.hp1 others(5): Show HG00673.hp2 HG02083.hp2 HG02602.hp1 HG03017.hp1 HG03831.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0103 others(3): Show a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0122 a0001c0001t0001g0125	8	334	0.0240	44	c.7- others(57): Show c.7-519_*7-518insCACATATATATACGTATATATATATATATATA TATACATATGTG	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115417	A A	ATACATAT others(37): Show ATACATATGTATATATATATATATATATACGTATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	297	0.0034	44	c.7- others(57): Show c.7-521_*7-520insCACACATATATATACGTATATATATATATATA TATACATATGTA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115435	G G	GTATATAT others(37): Show GTATATATATATATGTGTATATATATATGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00621.hp1 HG00280.hp2 HG00323.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0089 a0001c0001t0003g0043 a0001c0001t0001g0089 a0001c0001t0003g0043	3	64	0.0469	44	c.7- others(57): Show c.7-539_*7-538insTATATATATATATACACATATATATATACACA TATATATATATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115437	G G	GTATATAT others(37): Show GTATATATATATATGTGTATATATATATGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA19004.hp1 HG01106.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	2	191	0.0105	44	c.7- others(57): Show c.7-541_*7-540insTATATATATATATACACATATATATATACACA TATATATATATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115625	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02896.hp2 HG02897.hp2 others(3): Show HG00639.hp1 HG02896.hp2 HG02897.hp2 HG03195.hp1 HG03516.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0031 a0001c0001t0001g0121 a0001c0001t0001g0122 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0004g0063	6	119	0.0504	44	c.6+ others(57): Show c.6+389_*6+390insTATATATATATATATATATATATATATATATA TATATATATATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NWD1_chr19_16714847_16822953	16736193	T T	TTTCCTTC others(37): Show TTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0060 a0004c0060	a0004c0060t0002 a0004c0060t0002	a0004c0060t0002g0125 a0004c0060t0002g0125	1	278	0.0036	44	c.82- others(57): Show c.82-434_82-433insTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTC	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD1_chr19_16714847_16822953	16736209	T T	TTTCCTTC others(37): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02055.hp2 HG01167.hp2 HG02055.hp2	a0004 a0005 a0004 a0005	a0004c0005 a0005c0004 a0004c0005 a0005c0004	a0004c0005t0048 a0005c0004t0002 a0004c0005t0048 a0005c0004t0002	a0004c0005t0048g0002 a0005c0004t0002g0039 a0004c0005t0048g0002 a0005c0004t0002g0039	2	135	0.0148	44	c.82- others(57): Show c.82-408_82-407insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCT	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453089	T T	TAATATAT others(37): Show TAATATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	280	0.0036	44	c.25 others(55): Show c.2557_*2558insTATATATATATATATATATATATATATATATATA TATATATATT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2335		chr19	TogoVar
NXN_chr17_794310_984776	835890	C C	CAGAGGCC others(37): Show CAGAGGCCGCAGGGGAAAAACACCGGTGGGATTCGTCAGCCTCAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	240	0.0042	44	c.361 others(61): Show c.361-9856_361-9813dupATGAGGCTGACGAATCCCACCGGTGTTT TTCCCCTGCGGCCTCT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	853723	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	118	0.0085	44	c.361 others(63): Show c.361-27646_361-27645insAAAAAAAAAAAAAAAATATATATATA TATATATATATATATATA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	955575	A A	AGACGCGG others(37): Show AGACGCGGTGGCTCACGCCTGTAATCCCAGCACCTCGGGAGGCTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0241 a0001c0001t0033g0241	1	231	0.0043	44	c.360 others(63): Show c.360+23743_360+23744insCAGCCTCCCGAGGTGCTGGGATTACA GGCGTGAGCCACCGCGTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NYAP2_chr2_225394710_225708654	225589516	A A	AAAAAATA others(37): Show AAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	25	0.0400	44	c.161 others(63): Show c.1618+6482_1618+6483insAAAATATATATATATATATATATATA TATATATATATATATATA	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(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02135.hp1 HG02135.hp2 others(12): Show HG00741.hp2 HG02135.hp1 HG02135.hp2 HG02257.hp2 HG02818.hp2 HG02922.hp1 HG03669.hp1 HG03710.hp1 HG03942.hp1 HG04184.hp1 NA18612.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0003c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 a0001c0001t0042 a0001c0001t0044 a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 a0001c0003t0029 a0001c0005t0002 a0003c0009t0016	a0001c0001t0001g0027 a0001c0001t0004g0015 a0001c0001t0004g0017 others(12): Show a0001c0001t0001g0027 a0001c0001t0004g0015 a0001c0001t0004g0017 a0001c0001t0019g0087 a0001c0001t0042g0011 a0001c0001t0044g0174 a0001c0002t0001g0052 a0001c0002t0001g0082 a0001c0002t0002g0063 a0001c0003t0002g0001 a0001c0003t0002g0025 a0001c0003t0002g0132 a0001c0003t0029g0173 a0001c0005t0002g0170 a0003c0009t0016g0168	15	56	0.2679	44	c.161 others(65): Show c.1618+14495_1618+14496insATATATATATATATATATATATAT ATATATATATATATATATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
OCA2_chr15_27749875_28104315	27770768	C C	CCCTCCCT others(37): Show CCCTCCCTTCCATCCTTCCTTCCTCCCTCCCTCTTTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02451.hp2 HG03453.hp1 HG01496.hp2 HG02451.hp2 HG03453.hp1	a0001 a0008 a0001 a0008	a0001c0003 a0001c0033 a0008c0023 a0001c0003 a0001c0033 a0008c0023	a0001c0003t0001 a0001c0033t0006 a0008c0023t0001 a0001c0003t0001 a0001c0033t0006 a0008c0023t0001	a0001c0003t0001g0038 a0001c0033t0006g0022 a0008c0023t0001g0093 a0001c0003t0001g0038 a0001c0033t0006g0022 a0008c0023t0001g0093	3	107	0.0280	44	c.243 others(65): Show c.2433-15340_2433-15297dupAAGGAAGGAAAAGAGGGAGGGAGG AAGGAAGGATGGAAGGGAGG	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0003 a0001c0006t0001g0003	1	13	0.0769	44	c.243 others(65): Show c.2432+20356_2432+20357insTATATATATATATATATATATATA TATATAGAGAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0010 a0001c0004t0002g0010	1	13	0.0769	44	c.243 others(65): Show c.2432+20356_2432+20357insTATATATATATATATATATATAGA GAGAGAGAGAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0013 a0013	a0013c0038 a0013c0038	a0013c0038t0002 a0013c0038t0002	a0013c0038t0002g0018 a0013c0038t0002g0018	1	13	0.0769	44	c.243 others(65): Show c.2432+20356_2432+20357insTATATATATATATATATATAGAGA GAGAGAGAGAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0001 a0008c0023t0001	a0008c0023t0001g0093 a0008c0023t0001g0093	1	13	0.0769	44	c.243 others(65): Show c.2432+20356_2432+20357insTATATATATATATATATAGAGAGA GAGAGAGAGAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02965.hp2 NA18956.hp2 others(2): Show HG02273.hp2 HG02965.hp2 NA18956.hp2 NA18977.hp2 NA18986.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0003 a0008c0014 a0001c0001 a0002c0003 a0008c0014	a0001c0001t0001 a0002c0003t0001 a0008c0014t0001 a0001c0001t0001 a0002c0003t0001 a0008c0014t0001	a0001c0001t0001g0045 a0002c0003t0001g0002 a0002c0003t0001g0027 others(1): Show a0001c0001t0001g0045 a0002c0003t0001g0002 a0002c0003t0001g0027 a0008c0014t0001g0031	5	247	0.0202	44	c.-78 others(53): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA TATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	243	0.0041	44	c.-78 others(53): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA TATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG03139.hp2 HG02559.hp2 HG03139.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	2	244	0.0082	44	c.-78 others(53): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATA TATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	243	0.0041	44	c.-78 others(53): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA TATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG02486.hp1 HG01934.hp1 HG02486.hp1	a0002 a0002	a0002c0003 a0002c0010 a0002c0003 a0002c0010	a0002c0003t0001 a0002c0010t0001 a0002c0003t0001 a0002c0010t0001	a0002c0003t0001g0002 a0002c0010t0001g0002 a0002c0003t0001g0002 a0002c0010t0001g0002	2	244	0.0082	44	c.-78 others(53): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 NA19075.hp1 HG02698.hp1 NA19075.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0001 a0002c0003t0001g0002 a0001c0002t0001g0001 a0002c0003t0001g0002	2	244	0.0082	44	c.-78 others(53): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	243	0.0041	44	c.-78 others(53): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	243	0.0041	44	c.-78 others(53): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
ODAD3_chr19_11415605_11440121	11425333	G G	GTGTATAT others(37): Show GTGTATATATGTGTATATGTACATATGTGTATATATGTACATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	381	0.0026	44	c.963 others(59): Show c.963+810_963+811insTATATGTACATATATACACATATGTACATA TACACATATATACA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
OGDH_chr7_44601627_44714066	44616875	A A	ATATATAC others(37): Show ATATATACACATATACGTGTATATATATACACATATATATATACG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp2 NA20300.hp1 HG02258.hp2 HG02809.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0002t0001g0124 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0002t0001g0124	3	304	0.0099	44	c.-27 others(61): Show c.-27-7436_-27-7435insCACATATACGTGTATATATATACACATA TATATATACGTATATA	OGDH	ENSG00000105953.16	transcript	ENST00000222673.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
OLFM1_chr9_135082668_135126180	135096201	C C	CTTCATCC others(37): Show CTTCATCCTCCTCTTCCTCCTCCCTCTCCTTCTTCTCCTCTTCTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03225.hp1 HG03453.hp1 others(1): Show HG02723.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0331 others(1): Show a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0332	4	358	0.0112	44	c.456 others(59): Show c.456+182_456+183insTTCATCCTCCTCTTCCTCCTCCCTCTCCTT CTTCTCCTCTTCTT	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding	3/5			chr9	TogoVar
OLFM1_chr9_135082668_135126180	135124473	G G	GAGGGAGG others(37): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	274	0.0036	44	c.42 others(55): Show c.4295_*4296insAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAG GAAGGAAGGA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding		3294		chr9	TogoVar
OMA1_chr1_58475719_58551726	58518272	G G	GGGGAGAG others(37): Show GGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	244	0.0041	44	c.121 others(63): Show c.1215+8988_1215+8989insTCCTCTCCCCTCTCCCCTCTCCCCTC TCCCCTCTCCCCTCTCCC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar

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