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
NUMA1_chr11_71997864_72085542	72049560	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03471.hp2 HG01074.hp1 HG03471.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0032 a0003c0004t0001g0076 a0003c0004t0001g0032 a0003c0004t0001g0076	2	244	0.0082	22	c.-32 others(41): Show c.-32-13607_-32-13586dupATATATATATATATATATATAT	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUMB_chr14_73270216_73463546	73294950	T T	TTAAAAAA others(15): Show TTAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA19088.hp2 HG04228.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0302 a0001c0001t0001g0304	2	322	0.0062	22	c.310 others(39): Show c.310-2077_310-2076insTTTTTTTTTTTTTTTTTTTTTA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	7/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73350070	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA19084.hp2 HG04204.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0287 a0001c0001t0001g0278 a0001c0001t0001g0287	2	322	0.0062	22	c.126 others(39): Show c.126+5555_126+5556insGTGTGTGTGTGTGTGTGTGTGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73350074	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	322	0.0031	22	c.126 others(39): Show c.126+5551_126+5552insGTGTGTGTGTGTGTGTGTGTGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73353072	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG06807.hp1 HG03453.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0253 a0001c0002t0003g0248 a0001c0001t0002g0253 a0001c0002t0003g0248	2	322	0.0062	22	c.126 others(39): Show c.126+2532_126+2553dupAAAAAAAAAAAAAAAAAAAAAA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73367348	T T	TATAGAGA others(15): Show TATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	322	0.0031	22	c.-10 others(39): Show c.-100-368_-100-367insCTCTCTCTCTCTCTCTCTCTAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73367348	T T	TATATAGA others(15): Show TATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	322	0.0031	22	c.-10 others(39): Show c.-100-368_-100-367insCTCTCTCTCTCTCTCTCTATAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73367348	T T	TATATATA others(15): Show TATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	322	0.0031	22	c.-10 others(39): Show c.-100-368_-100-367insCTCTCTCTCTCTCTCTATATAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73367348	T T	TATATATA others(15): Show TATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0320 a0001c0001t0001g0322	2	322	0.0062	22	c.-10 others(39): Show c.-100-368_-100-367insCTCTCTCTCTCTCTATATATAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73372317	A A	ATATATAT others(15): Show ATATATATATATATATAACCTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	322	0.0031	22	c.-10 others(41): Show c.-100-5337_-100-5336insAAAGGTTATATATATATATATA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73372319	A A	ATATATAT others(15): Show ATATATATATATATATAACCTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18969.hp1 HG02486.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0303 a0001c0001t0001g0012 a0001c0001t0001g0303	2	322	0.0062	22	c.-10 others(41): Show c.-100-5339_-100-5338insAAAGGTTATATATATATATATA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73389272	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	322	0.0031	22	c.-10 others(43): Show c.-101+20664_-101+20665insTTTTTTTTTTTTTTTTTTTTTT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUP133_chr1_229435259_229513341	229439672	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0236 a0002c0002t0002g0236	1	276	0.0036	22	c.22 others(33): Show c.2231_*2232insAATATATATATATATATATATA	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding		586		chr1	TogoVar
NUP133_chr1_229435259_229513341	229472707	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02258.hp1 HG02723.hp1 others(1): Show HG00140.hp2 HG02258.hp1 HG02723.hp1 HG02886.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0006 a0002c0002t0002 a0003c0003t0006	a0002c0002t0002g0251 a0003c0003t0006g0128 a0003c0003t0006g0130 others(1): Show a0002c0002t0002g0251 a0003c0003t0006g0128 a0003c0003t0006g0130 a0003c0003t0006g0131	4	276	0.0145	22	c.185 others(41): Show c.1852-1904_1852-1903insATATATATATATATATATATAT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	14/25			chr1	TogoVar
NUP153_chr6_17610037_17711925	17678352	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19043.hp2 HG03139.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0003c0004t0001 a0001c0001t0003 a0003c0004t0001	a0001c0001t0003g0022 a0003c0004t0001g0283 a0001c0001t0003g0022 a0003c0004t0001g0283	2	316	0.0063	22	c.335 others(39): Show c.335-2604_335-2583dupTTTTTTTTTTTTTTTTTTTTTT	NUP153	ENSG00000124789.12	transcript	ENST00000262077.3	protein_coding	2/21			chr6	TogoVar
NUP153_chr6_17610037_17711925	17693183	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02717.hp2 HG01167.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0166 a0001c0001t0001g0167	2	316	0.0063	22	c.112 others(39): Show c.112-4587_112-4566dupGTGTGTGTGTGTGTGTGTGTGT	NUP153	ENSG00000124789.12	transcript	ENST00000262077.3	protein_coding	1/21			chr6	TogoVar
NUP155_chr5_37283137_37376106	37294005	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA18975.hp2 NA19012.hp2 HG01433.hp2 NA18975.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0057 a0001c0001t0001 a0001c0001t0057	a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0057g0299 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0057g0299	3	300	0.0100	22	c.393 others(39): Show c.3930+302_3930+323dupTTTTTTTTTTTTTTTTTTTTTT	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	33/34			chr5	TogoVar
NUP160_chr11_47773118_47853350	47775210	T T	TAGAAAAA others(15): Show TAGAAAAAAAAAAAGAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	338	0.0030	22	c.38 others(33): Show c.3894_*3895insTTTTTTTTCTTTTTTTTTTTCT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2907		chr11	TogoVar
NUP188_chr9_128942699_129012096	128984124	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01496.hp1 HG02080.hp1 others(6): Show HG00673.hp1 HG01496.hp1 HG02080.hp1 HG02735.hp2 HG02895.hp1 HG02897.hp1 HG03471.hp2 HG04228.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0141 a0001c0001t0001g0262	9	296	0.0304	22	c.196 others(39): Show c.1961+593_1961+594insTTTTTTTTTTTTTTTTTTTTTT	NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding	19/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP188_chr9_128942699_129012096	129007307	T T	TGCGCTGG others(15): Show TGCGCTGGTCCTGTCCTTGACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00741.hp2 NA20805.hp1 HG00140.hp2 HG00741.hp2 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0011 a0001c0001 a0001c0002 a0005c0011	a0001c0001t0001 a0001c0002t0001 a0005c0011t0001 a0001c0001t0001 a0001c0002t0001 a0005c0011t0001	a0001c0001t0001g0120 a0001c0002t0001g0067 a0005c0011t0001g0152 a0001c0001t0001g0120 a0001c0002t0001g0067 a0005c0011t0001g0152	3	296	0.0101	22	c.62 others(31): Show c.629_*630insGCGCTGGTCCTGTCCTTGACCC	NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding		212		chr9	TogoVar
NUP205_chr7_135552917_135653753	135567174	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	352	0.0028	22	c.29- others(37): Show c.29-3924_29-3923insATATATATATATATGTATATAT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP205_chr7_135552917_135653753	135629469	A A	ATCTCTCT others(15): Show ATCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp1 NA18943.hp1 others(1): Show HG00280.hp1 HG00621.hp1 NA18943.hp1 NA18974.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0300 a0001c0003t0001g0307 a0001c0003t0001g0315 others(1): Show a0001c0003t0001g0300 a0001c0003t0001g0307 a0001c0003t0001g0315 a0001c0003t0001g0326	4	352	0.0114	22	c.493 others(39): Show c.4933-855_4933-834dupCTCTCTCTCTCTCTCTCTCTCT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	34/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP210_chr3_13311235_13425322	13377821	G G	GAGGCCCC others(15): Show GAGGCCCCACACCACCCACCTGC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0167 a0004c0004t0003g0167	1	326	0.0031	22	c.104 others(39): Show c.1046-281_1046-260dupGCAGGTGGGTGGTGTGGGGCCT	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding	8/39			chr3	TogoVar
NUP214_chr9_131120586_131239663	131130137	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0205 a0001c0005t0002g0205	1	234	0.0043	22	c.593 others(37): Show c.593-616_593-615insTTTTTTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	4/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131193629	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18949.hp1 NA19001.hp2 HG03927.hp1 NA18949.hp1 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0001 a0002c0002t0001 a0002c0003t0001	a0002c0002t0001g0139 a0002c0003t0001g0070 a0002c0003t0001g0098 a0002c0002t0001g0139 a0002c0003t0001g0070 a0002c0003t0001g0098	3	234	0.0128	22	c.365 others(41): Show c.3659+1349_3659+1370dupTTTTTTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	27/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131196025	T T	TCCCTCTC others(15): Show TCCCTCTCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	234	0.0043	22	c.372 others(39): Show c.3721+734_3721+735insTCTCCCCCCCCCCCCCCCCCCC	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	28/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131206148	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03540.hp1 HG02055.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0001 a0002c0002t0001 a0001c0004t0001 a0002c0002t0001	a0001c0004t0001g0220 a0002c0002t0001g0166 a0001c0004t0001g0220 a0002c0002t0001g0166	2	234	0.0086	22	c.559 others(41): Show c.5592+4445_5592+4446insTTTTTTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	30/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223723	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	234	0.0043	22	c.590 others(39): Show c.5902+796_5902+797insTTTTTTTTTTTTTTTTTTTTTT	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(15): Show ATTTATTTATTTATTTATTTTTT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	234	0.0043	22	c.590 others(39): Show c.5902+800_5902+801insATTTATTTATTTATTTTTTTTT	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(15): Show ATTTATTTATTTATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0144 a0002c0002t0001g0144	1	234	0.0043	22	c.590 others(39): Show c.5902+800_5902+801insATTTATTTATTTTTTTTTTTTT	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(15): Show ATTTATTTATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0001 a0013c0021t0001	a0013c0021t0001g0181 a0013c0021t0001g0181	1	234	0.0043	22	c.590 others(39): Show c.5902+800_5902+801insATTTATTTTTTTTTTTTTTTTT	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(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03017.hp1 HG02818.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0003 a0001c0001t0001 a0001c0010t0003	a0001c0001t0001g0060 a0001c0010t0003g0229 a0001c0001t0001g0060 a0001c0010t0003g0229	2	234	0.0086	22	c.590 others(39): Show c.5902+801_5902+822dupTTTTTTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP58_chr13_25296625_25347421	25343805	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp2 NA19057.hp2 NA19055.hp2 NA19057.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0200 a0001c0003t0004g0201 a0001c0003t0004g0200 a0001c0003t0004g0201	2	350	0.0057	22	c.36 others(33): Show c.3671_*3672insTATATATATATATATATATATA	NUP58	ENSG00000139496.18	transcript	ENST00000381736.8	protein_coding		1385		chr13	TogoVar
NUP62CL_chrX_107118427_107211433	107152049	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	280	0.0036	22	c.530 others(39): Show c.530+1101_530+1122dupATATATATATATATATATATAT	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	7/8			chrX	TogoVar
NUP88_chr17_5379833_5424662	5416178	T T	TATATATA others(15): Show TATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0032 a0005c0008t0001g0032	1	370	0.0027	22	c.467 others(37): Show c.467+334_467+335insGTGTGTGTATATATATATATAT	NUP88	ENSG00000108559.13	transcript	ENST00000573584.6	protein_coding	2/16			chr17	TogoVar
NUP93_chr16_56725129_56855286	56808115	A A	ATTATATA others(15): Show ATTATATAACTATATAAATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03098.hp1 HG03471.hp1 others(1): Show HG02630.hp1 HG03098.hp1 HG03471.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0046 a0001c0001t0011 a0001c0001t0046	a0001c0001t0011g0004 a0001c0001t0011g0006 a0001c0001t0011g0009 others(1): Show a0001c0001t0011g0004 a0001c0001t0011g0006 a0001c0001t0011g0009 a0001c0001t0046g0008	4	378	0.0106	22	c.489 others(39): Show c.489+2499_489+2520dupAATATATTTATATAACTATATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808631	T T	TACATTTA others(15): Show TACATTTATATAAATATATAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18946.hp1 NA18953.hp2 others(3): Show HG00609.hp1 NA18946.hp1 NA18953.hp2 NA18965.hp1 NA19012.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0039 a0001c0001t0001 a0001c0001t0039	a0001c0001t0001g0316 a0001c0001t0001g0320 a0001c0001t0001g0321 others(3): Show a0001c0001t0001g0316 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0328 a0001c0001t0001g0334 a0001c0001t0039g0317	6	378	0.0159	22	c.489 others(39): Show c.489+3001_489+3022dupCATTTATATAAATATATAAAAA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56827069	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19077.hp2 NA19005.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0353 a0001c0001t0003g0357 a0001c0001t0003g0353 a0001c0001t0003g0357	2	378	0.0053	22	c.795 others(39): Show c.795-1908_795-1907insAAAAAAAAAAAAAAAAAAAAAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	8/21			chr16	TogoVar
NUP98_chr11_3670019_3802554	3707738	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG01934.hp2 others(13): Show HG00323.hp2 HG00558.hp1 HG01934.hp2 HG02083.hp1 HG02132.hp1 HG02148.hp1 HG03195.hp1 HG03471.hp2 HG03688.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18973.hp2 NA18980.hp2 NA19082.hp2 NA19083.hp2	a0001 a0008 a0013 a0001 a0008 a0013	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0008c0027 a0008c0028 a0013c0029	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0008c0027t0001 a0008c0028t0001 a0013c0029t0001	a0001c0001t0001g0006 a0001c0001t0001g0145 a0001c0001t0001g0150 others(13): Show a0001c0001t0001g0006 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0002t0001g0074 a0001c0002t0001g0098 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0288 a0001c0003t0002g0321 a0008c0027t0001g0154 a0008c0028t0001g0148 a0013c0029t0001g0134	16	342	0.0468	22	c.274 others(41): Show c.2743-1112_2743-1111insTTTTTTTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	20/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3724780	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp1 HG01099.hp1 others(15): Show HG00438.hp2 HG00738.hp1 HG01099.hp1 HG02129.hp2 HG02135.hp1 HG02683.hp1 HG02976.hp2 HG04199.hp2 NA18944.hp2 NA18959.hp2 NA18981.hp2 NA19002.hp2 NA19003.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19079.hp1 NA19082.hp1	a0001 a0020 a0001 a0020	a0001c0001 a0001c0002 a0020c0018 a0001c0001 a0001c0002 a0020c0018	a0001c0001t0001 a0001c0002t0001 a0020c0018t0001 a0001c0001t0001 a0001c0002t0001 a0020c0018t0001	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0084 others(15): Show a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0001g0275 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0092 a0001c0002t0001g0102 a0001c0002t0001g0106 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0271 a0001c0002t0001g0274 a0001c0002t0001g0286 a0020c0018t0001g0099	18	342	0.0526	22	c.184 others(39): Show c.1847+322_1847+323insTTTTTTTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	15/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3729715	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02886.hp2 HG06807.hp2 others(1): Show HG02004.hp1 HG02886.hp2 HG06807.hp2 NA19009.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0005c0010t0001 a0001c0001t0001 a0005c0010t0001	a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0254 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0254 a0005c0010t0001g0338	4	342	0.0117	22	c.173 others(41): Show c.1730+1654_1730+1675dupTTTTTTTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	14/32			chr11	TogoVar
NUPR1_chr16_28527708_28543974	28535584	C C	CGTTCTCT others(15): Show CGTTCTCTTCTTCTCTTTCTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0140 a0001c0001t0055g0140	1	368	0.0027	22	c.20 others(33): Show c.2098_*2099insAGAAGAAAGAGAAGAAGAGAAC	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2434		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535621	T T	TTTCTTTC others(15): Show TTTCTTTCTTTCTTTCTTTCTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03130.hp2 NA18944.hp1 NA18953.hp2 others(2): Show HG03130.hp2 NA18944.hp1 NA18953.hp2 NA18997.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0100 a0001c0001t0101 others(1): Show a0001c0001t0030 a0001c0001t0100 a0001c0001t0101 a0001c0001t0113	a0001c0001t0030g0028 a0001c0001t0100g0147 a0001c0001t0101g0148 others(1): Show a0001c0001t0030g0028 a0001c0001t0100g0147 a0001c0001t0101g0148 a0001c0001t0113g0156	5	368	0.0136	22	c.20 others(33): Show c.2061_*2062insGAAGAAAGAAAGAAAGAAAGAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2397		chr16	TogoVar
NUPR2_chr7_56109681_56121417	56115417	A A	ACATATGT others(15): Show ACATATGTATATATATACATGTG	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18999.hp1 HG02015.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	2	448	0.0045	22	c.7- others(35): Show c.7-521_*7-520insCACATGTATATATATACATATG	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115625	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02809.hp2 NA18950.hp1 others(1): Show HG01099.hp1 HG02809.hp2 NA18950.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0109 a0001c0001t0001g0029 a0001c0001t0001g0109	4	448	0.0089	22	c.6+ others(35): Show c.6+368_*6+389dupTATATATATATATATATATATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUTF2_chr16_67841933_67877567	67854941	T T	TCAAAAAA others(15): Show TCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	248	0.0040	22	c.-30 others(39): Show c.-30+7956_-30+7957insCAAAAAAAAAAAAAAAAAAAAA	NUTF2	ENSG00000102898.13	transcript	ENST00000219169.9	protein_coding	1/4			chr16	TogoVar
NUTM2G_chr9_96923843_96944416	96930872	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	374	0.0027	22	c.17- others(35): Show c.17-831_17-810dupTTTTTTTTTTTTTTTTTTTTTT	NUTM2G	ENSG00000188152.13	transcript	ENST00000372322.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
NVL_chr1_224222345_224335172	224274035	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	284	0.0035	22	c.208 others(41): Show c.2082+1282_2082+1303dupGTGTGTGTGTGTGTGTGTGTGT	NVL	ENSG00000143748.18	transcript	ENST00000281701.11	protein_coding	17/22			chr1	TogoVar
NWD1_chr19_16714847_16822953	16775455	G G	GGGCTGTC others(15): Show GGGCTGTCCTCGTTGGCCCAATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0019 a0019	a0019c0027 a0019c0027	a0019c0027t0007 a0019c0027t0007	a0019c0027t0007g0080 a0019c0027t0007g0080	1	300	0.0033	22	c.260 others(41): Show c.2608+2133_2608+2154dupGGCTGTCCTCGTTGGCCCAATA	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD2_chr4_37239743_37454463	37348675	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0258 a0001c0001t0005g0258	1	296	0.0034	22	c.241 others(39): Show c.241-7690_241-7689insTATATATATATATATATACACA	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar

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