Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NOX1_chrX_100838324_100879359	100853294	C C	CTTTCTTT others(39): Show CTTTCTTTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	302	0.0033	46	c.805 others(63): Show c.805-1970_805-1969insAAGAAAGAAAGAAAGAAAGAAAGAAAGA GAAAGAGAGAGAAAGAAA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NOX1_chrX_100838324_100879359	100853296	T T	TTCTTTCT others(39): Show TTCTTTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	302	0.0033	46	c.805 others(63): Show c.805-1972_805-1971insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAGAAAGAGAGAGAAAGA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NOX1_chrX_100838324_100879359	100853298	C C	CTTTCTCT others(39): Show CTTTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19085.hp1 NA19080.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0229 a0001c0001t0001g0138 a0001c0001t0001g0229	2	302	0.0066	46	c.805 others(63): Show c.805-1974_805-1973insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAAAGAGAGAGAAA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NOX1_chrX_100838324_100879359	100853300	T T	TTCTTTCT others(39): Show TTCTTTCTTTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	302	0.0033	46	c.805 others(63): Show c.805-1976_805-1975insGAAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAGAGAGAAAGAAAGA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NOX1_chrX_100838324_100879359	100853302	C C	CTTTCTCT others(39): Show CTTTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	302	0.0033	46	c.805 others(63): Show c.805-1978_805-1977insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAAAGAGAGAGAAA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NOX1_chrX_100838324_100879359	100853304	T T	TTCTCTCT others(39): Show TTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	302	0.0033	46	c.805 others(63): Show c.805-1980_805-1979insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAGAGAGA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NOX1_chrX_100838324_100879359	100853304	T T	TTCTTTCT others(39): Show TTCTTTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	302	0.0033	46	c.805 others(63): Show c.805-1980_805-1979insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAGAAAGAGAGAGAAAGA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NOX1_chrX_100838324_100879359	100853308	T T	TTCTCTCT others(39): Show TTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	302	0.0033	46	c.805 others(63): Show c.805-1984_805-1983insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAGAGAGA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NOX5_chr15_69009695_69067762	69045552	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0070 a0001c0003t0001g0070	1	396	0.0025	46	c.164 others(65): Show c.1648-1252_1648-1251insTCTTTCTTTCTTTCTTCCCTTTCTTT CTTTTCTTTCTTTCTTTCTT	NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
NOX5_chr15_69009695_69067762	69045556	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0021 a0001c0003t0001g0021	2	396	0.0051	46	c.164 others(65): Show c.1648-1252_1648-1251insTCTTTCTTTCTTTCTTTCTTCCCTTT CTTTCTTTTCTTTCTTTCTT	NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
NPAS2_chr2_100815139_101001829	100938569	C C	CCCCCCTT others(39): Show CCCCCCTTTCCTCCCTCCCTCTCCCTCCCTCCCTCCTTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0042 a0002c0005t0002g0042	1	288	0.0035	46	c.363 others(61): Show c.363+747_363+748insTCCCTCCCTCCCTCCTTCCCTCCCTTCCCC CTTTCCTCCCTCCCTC	NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
NPAS3_chr14_32933879_33809173	33308527	T T	TATATATA others(39): Show TATATATATATATATATATATATATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0043 a0001c0001t0054g0043	1	92	0.0109	46	c.386 others(65): Show c.386-58658_386-58657insTATATATATATATATATATATATACA CACACACACACACACACACA	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33308527	T T	TATATATA others(39): Show TATATATATATATATATATATATATATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0003 a0002c0004t0008g0003	1	92	0.0109	46	c.386 others(65): Show c.386-58658_386-58657insTATATATATATATATATATATATATA CACACACACACACACACACA	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33308527	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0088 a0001c0001t0034g0088	1	92	0.0109	46	c.386 others(65): Show c.386-58658_386-58657insTATATATATATATATATATATATATA TATACACACACACACACACA	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPIPA8_chr16_18312919_18341736	18341224	G G	GGGGGATA others(39): Show GGGGGATAAGGGAGGGGAAGGGGGATAAGGGAGGGGAAGGAGGATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	40	0.0250	46	c.-49 others(57): Show c.-4918_-4917insTTATCCTCCTTCCCCTCCCTTATCCCCCTTCCCC TCCCTTATCCCC	NPIPA8	ENSG00000214940.9	transcript	ENST00000525596.6	protein_coding		4489		chr16	TogoVar
NPSR1_chr7_34653218_34854978	34790671	T T	TTATATGT others(39): Show TTATATGTTCTATGTTATATATAATATATGTTCTATGTTATATATAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0010 a0010	a0010c0028 a0010c0028	a0010c0028t0002 a0010c0028t0002	a0010c0028t0002g0143 a0010c0028t0002g0143	1	260	0.0039	46	c.384 others(65): Show c.384+12115_384+12160dupCTATGTTATATATAATATATGTTCTA TGTTATATATAATATATGTT	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NR6A1_chr9_124512275_124776311	124611774	A A	AGAGAGAG others(39): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0094 a0001c0001t0008g0094	1	234	0.0043	46	c.143 others(65): Show c.143-57205_143-57204insATTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTC	NR6A1	ENSG00000148200.17	transcript	ENST00000487099.7	protein_coding	2/9			chr9	TogoVar
NRG3_chr10_81870194_82992178	82491293	A A	AATATATA others(39): Show AATATATATATATACATATATATATATATATATATATATATACATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	66	0.0152	46	c.953 others(67): Show c.953+132438_953+132439insCATATATATATATATATATATATA TATACATATATATATATATATA	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRIP2_chr12_2820348_2840035	2835190	T T	TGTGTGTG others(39): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	422	0.0024	46	c.-20 others(55): Show c.-208_-207insTCTCTCTCTCTCTCACACACACACACACACACACAC ACACACACAC	NRIP2	ENSG00000053702.15	transcript	ENST00000337508.9	protein_coding		156		chr12	TogoVar
NRROS_chr3_196634694_196667004	196634835	G G	GTGGGGGC others(39): Show GTGGGGGCTGGGAGAAGTGGGGTCTGGAGAAGTGGAGGCTGGAGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	472	0.0021	46	c.-50 others(57): Show c.-5054_-5053insTGGGGGCTGGGAGAAGTGGGGTCTGGAGAAGTGG AGGCTGGAGAAT	NRROS	ENSG00000174004.6	transcript	ENST00000328557.5	protein_coding		4858		chr3	TogoVar
NRSN1_chr6_24121215_24152530	24150853	A A	AAGAAAGA others(39): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	406	0.0025	46	c.49 others(57): Show c.4907_*4908insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAG	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		3324		chr6	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0054 a0001c0001t0006g0054	1	116	0.0086	46	c.833 others(65): Show c.833-60032_833-60031insATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 NA18975.hp2 HG01169.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0033 a0001c0001t0017g0065 a0001c0001t0002g0033 a0001c0001t0017g0065	2	116	0.0172	46	c.833 others(65): Show c.833-60032_833-60031insATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN2_chr11_64601174_64728197	64695676	G G	GTCTCAGA others(39): Show GTCTCAGAGTGACACAGAGATGTGTCAGACTCCTAGGTGTGTATACA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0251 a0001c0001t0004g0251	1	308	0.0033	46	c.748 others(63): Show c.748+2053_748+2098dupTGTATACACACCTAGGAGTCTGACACAT CTCTGTGTCACTCTGAGA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	3/22			chr11	TogoVar
NRXN3_chr14_78165373_79873291	78235002	A A	ATATATAT others(39): Show ATATATATATATATATATGTGTATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0020 a0001c0007t0002g0020	1	24	0.0417	46	c.-70 others(65): Show c.-703-7372_-703-7371insGTGTATATATATATATATATATATAT GTGTATATATATATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	78235004	A A	ATATATAT others(39): Show ATATATATATATATATATGTGTATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0019 a0001c0003t0012g0019	1	24	0.0417	46	c.-70 others(65): Show c.-703-7370_-703-7369insGTGTATATATATATATATATATATAT GTGTATATATATATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	78510040	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0010 a0001c0007t0002g0010	1	24	0.0417	46	c.758 others(67): Show c.758-135061_758-135060insATATATATATATATATATATATAT ATATATATATATATATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSMCE2_chr8_125086860_125372120	125345138	C C	CGGGGGCG others(39): Show CGGGGGCGTAGATGGTTTCTGGCCAGGGAACAGAATCAGAGGTGATT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02647.hp1 HG03453.hp1 others(2): Show HG01243.hp2 HG02647.hp1 HG03453.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0038 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0044	5	244	0.0205	46	c.419 others(65): Show c.419-12036_419-12035insTGGGGGCGTAGATGGTTTCTGGCCAG GGAACAGAATCAGAGGTGAT	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	AAAAAATA others(39): Show AAAAAATATATATATATATATATATATATATATATACACATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0327 a0002c0002t0006g0327	1	346	0.0029	46	c.658 others(63): Show c.658-4615_658-4614insATATATATGTGTATATATATATATATAT ATATATATATATATTTTT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NT5DC1_chr6_116095853_116254497	116163141	A A	AAAAAATA others(39): Show AAAAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0059 a0001c0001t0017g0059	1	300	0.0033	46	c.529 others(65): Show c.529+45197_529+45198insAAAATATATATATATATATATATATA TATATATATATATATATATA	NT5DC1	ENSG00000178425.14	transcript	ENST00000319550.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
NTM_chr11_131365615_132341822	131680887	G G	GTGTCTCC others(39): Show GTGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02615.hp2 HG03041.hp2 others(3): Show HG02055.hp2 HG02615.hp2 HG03041.hp2 HG03098.hp1 HG03540.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0004t0003	a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0002g0020 others(3): Show a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0002g0020 a0001c0001t0002g0053 a0001c0001t0010g0019 a0001c0004t0003g0054	6	86	0.0698	46	c.83- others(65): Show c.83-230656_83-230655insGTGTGTGTTTCTGTGTCTGTGTGTAT GTCTCCCTGTGTGTGTGAGC	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	132275704	A A	ATATATAT others(39): Show ATATATATATGTATATATATACGTATATATATATGTATATATATACG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG01074.hp2 others(21): Show HG00642.hp2 HG00741.hp1 HG01074.hp2 HG01243.hp1 HG01515.hp2 HG01517.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02258.hp1 HG02602.hp1 HG02615.hp2 HG02735.hp2 HG02809.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03239.hp1 HG03710.hp2 HG06807.hp2 NA18522.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0012 a0002c0003t0006	a0001c0001t0001g0013 a0001c0001t0001g0057 a0001c0001t0001g0060 others(21): Show a0001c0001t0001g0013 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0002g0033 a0001c0001t0002g0067 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0003g0008 a0001c0001t0004g0005 a0001c0001t0004g0009 a0001c0001t0005g0001 a0001c0001t0007g0059 a0001c0001t0010g0019 a0001c0001t0014g0080 a0001c0002t0001g0010 a0001c0002t0001g0066 a0001c0002t0002g0069 a0001c0002t0005g0026 a0001c0002t0005g0039 a0001c0002t0012g0068 a0002c0003t0006g0011	24	86	0.2791	46	c.527 others(65): Show c.527-31955_527-31954insTATGTATATATATACGTATATATATG TATATATATACGTATATATA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUBP2_chr16_1777960_1794186	1793939	G G	GGCTGACT others(39): Show GGCTGACTGGGGAGGGCTGGGCAGCCAGGTTGGGGTGGGGACCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	442	0.0023	46	c.52 others(57): Show c.5225_*5226insGCTGACTGGGGAGGGCTGGGCAGCCAGGTTGGGG TGGGGACCCCTT	NUBP2	ENSG00000095906.17	transcript	ENST00000262302.14	protein_coding		4754		chr16	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(39): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	268	0.0037	46	c.514 others(65): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGTGAGAGAGAG AGAGAGAGAGAGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(39): Show TGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA19088.hp1 NA18981.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0058 a0001c0001t0003g0057 a0001c0001t0001g0058 a0001c0001t0003g0057	2	268	0.0075	46	c.514 others(65): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGTGTGAGAGAG AGAGAGAGAGAGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUDCD1_chr8_109235919_109339087	109311559	G G	GTATATAT others(39): Show GTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0198 a0003c0003t0003g0198	1	360	0.0028	46	c.273 others(65): Show c.273+10749_273+10750insTATATATATATATATATATATATATA TATATATATATATATATATA	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDCD1_chr8_109235919_109339087	109311559	G G	GTGTATAT others(39): Show GTGTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0221 a0003c0003t0003g0221	1	360	0.0028	46	c.273 others(65): Show c.273+10749_273+10750insTATATATATATATATATATATATATA TATATATATATATATATACA	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDCD1_chr8_109235919_109339087	109311559	G G	GTGTGTGT others(39): Show GTGTGTGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0046 a0003c0003t0004g0046	1	360	0.0028	46	c.273 others(65): Show c.273+10749_273+10750insTATATATATATATATATATATATATA TATATATATATATACACACA	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUFIP2_chr17_29250839_29299148	29276029	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02922.hp2 NA18989.hp2 HG02622.hp1 HG02922.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0015 a0001c0003t0005 a0001c0003t0067 a0001c0001t0015 a0001c0003t0005 a0001c0003t0067	a0001c0001t0015g0275 a0001c0003t0005g0297 a0001c0003t0067g0300 a0001c0001t0015g0275 a0001c0003t0005g0297 a0001c0003t0067g0300	3	356	0.0084	46	c.200 others(65): Show c.2003-8500_2003-8499insATATATATATATATATATATATATAT ATATATATATATATATATAT	NUFIP2	ENSG00000108256.9	transcript	ENST00000225388.9	protein_coding	2/3			chr17	TogoVar
NUP160_chr11_47773118_47853350	47775210	T T	TAGAAAAA others(39): Show TAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 NA19091.hp2 HG02132.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0291 a0001c0001t0002g0055 a0001c0001t0002g0291	2	338	0.0059	46	c.38 others(57): Show c.3894_*3895insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTCT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2907		chr11	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(39): Show ATTTATTTATTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0068	1	234	0.0043	46	c.590 others(63): Show c.5902+800_5902+801insATTTATTTATTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP54_chr4_76109664_76153397	76138696	G G	GCACTTCA others(39): Show GCACTTCAGCTGGGATAGTTCTATTAGGCATACATTTCGAAGGTAGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0067 a0002c0002t0003g0067	1	370	0.0027	46	c.296 others(63): Show c.296-2285_296-2284insTCTACCTTCGAAATGTATGCCTAATAGA ACTATCCCAGCTGAAGTG	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	3/11			chr4	TogoVar
NUP93_chr16_56725129_56855286	56808306	T T	TATATAGT others(39): Show TATATAGTTATATAACTATATAAAATATAGTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	378	0.0027	46	c.489 others(63): Show c.489+2684_489+2685insATAACTATATAAAATATAGTTATATAAC TATATAAAATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808448	A A	ATAAAATA others(39): Show ATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAAC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0371 a0001c0001t0027g0371	1	378	0.0027	46	c.489 others(63): Show c.489+2818_489+2819insAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808590	A A	ATATATAA others(39): Show ATATATAAATACATTTATATAAATATTTATAAATATATAAATACATT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp2 HG02818.hp2 others(2): Show HG02109.hp2 HG02615.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0249 a0001c0006t0009g0250 a0001c0006t0009g0251 others(2): Show a0001c0006t0009g0249 a0001c0006t0009g0250 a0001c0006t0009g0251 a0001c0006t0009g0252 a0001c0006t0009g0253	5	378	0.0132	46	c.489 others(63): Show c.489+2969_489+3014dupCATTTATATAAATATTTATAAATATATA AATACATTTATATAAATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56842141	T T	TTTTGGGG others(39): Show TTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGTTA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	378	0.0027	46	c.234 others(63): Show c.2349+312_2349+313insGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGTGTTATTTG	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP98_chr11_3670019_3802554	3688820	C C	CATATACA others(39): Show CATATACATATATATATATATATATTTAAATATACATATACATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0320 a0001c0012t0001g0320	1	342	0.0029	46	c.445 others(65): Show c.4454+2526_4454+2527insATATATGTATATGTATATTTAAATAT ATATATATATATATGTATAT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	28/32			chr11	TogoVar
NUPR2_chr7_56109681_56121417	56115415	A A	ACACATAT others(39): Show ACACATATGTATATATATATATATATATATATACGTATATATATGTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	448	0.0022	46	c.7- others(59): Show c.7-519_*7-518insCACATATATATACGTATATATATATATATATA TATATACATATGTG	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115415	A A	ATACATAT others(39): Show ATACATATGTATATATATATATATATATATACGTATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	448	0.0022	46	c.7- others(59): Show c.7-519_*7-518insCACACATATATATACGTATATATATATATATA TATATACATATGTA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115435	G G	GTATATAT others(39): Show GTATATATATATATGTGTATATATATATGTGTATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19000.hp2 NA19003.hp1 NA18969.hp2 NA19000.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	3	448	0.0067	46	c.7- others(59): Show c.7-539_*7-538insAATATATATATATATACACATATATATATACA CATATATATATATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar

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