Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
NRXN1_chr2_49913503_51037132	50334209	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02109.hp2 HG00738.hp1 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0010 a0001c0002t0005 a0001c0002t0010	a0001c0002t0005g0103 a0001c0002t0010g0095 a0001c0002t0005g0103 a0001c0002t0010g0095	2	116	0.0172	40	c.336 others(61): Show c.3365-97240_3365-97239insCATACATATATATATATATATATA TATATATATATATATA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373679	A A	AAAGAAAA others(33): Show AAAGAAAAGAAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03139.hp2 HG02970.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0013 a0001c0012t0041 a0001c0001t0013 a0001c0012t0041	a0001c0001t0013g0081 a0001c0012t0041g0100 a0001c0001t0013g0081 a0001c0012t0041g0100	2	116	0.0172	40	c.336 others(61): Show c.3364+91762_3364+91763insCTTTCTTTCTTTCTTTCTTTCTTT CCTTCTTTCTTTTCTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373679	A A	AAAGAAAG others(33): Show AAAGAAAGAAAAGAAAGAAGGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0082 a0001c0002t0049g0082	1	116	0.0086	40	c.336 others(61): Show c.3364+91762_3364+91763insCTTTCTTTCTTTCTTTCTTTCCTT CTTTCTTTTCTTTCTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373679	A A	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAAGAAAGAAGGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0015 a0001c0011t0015	a0001c0011t0015g0088 a0001c0011t0015g0088	1	116	0.0086	40	c.336 others(61): Show c.3364+91762_3364+91763insCTTTCTTTCTTTCTTTCCTTCTTT CTTTTCTTTCTTTCTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373690	G G	GGAAAGAA others(33): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0024 a0001c0003t0002g0024	1	116	0.0086	40	c.336 others(61): Show c.3364+91751_3364+91752insTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373690	G G	GGAAAGAA others(33): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0046 a0001c0001t0005g0046	1	116	0.0086	40	c.336 others(61): Show c.3364+91751_3364+91752insTTTCTTTCCTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50447737	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0098 a0001c0002t0034g0098	1	116	0.0086	40	c.336 others(61): Show c.3364+17665_3364+17704dupTATATATATATATATATATATATA TATATATATATATATA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	116	0.0086	40	c.833 others(59): Show c.833-60032_833-60031insATATATATATATATATATATATATTT TTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(33): Show AAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0014 a0001c0001t0024g0014	1	116	0.0086	40	c.833 others(59): Show c.833-60032_833-60031insATATATATATATATATATATATATAT ATATATATTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN3_chr14_78165373_79873291	78660253	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0014 a0001c0008t0004g0014	1	24	0.0417	40	c.122 others(59): Show c.1221+8950_1221+8951insATATATATATATATATATATATATAT ATATATATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSD1_chr5_177128773_177305213	177159001	T T	TATATATA others(33): Show TATATATATATATATGAATGATATATATATATATATGAATG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0133 a0001c0003t0002g0133	1	298	0.0034	40	c.927 others(59): Show c.927+22985_927+22986insGAATGATATATATATATATATGAATG ATATATATATATAT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177159001	T T	TATATATA others(33): Show TATATATATATATGAATGATATATATATATATATATGAATG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03471.hp2 HG02809.hp1 HG03471.hp2	a0001 a0008 a0001 a0008	a0001c0003 a0008c0015 a0001c0003 a0008c0015	a0001c0003t0002 a0008c0015t0002 a0001c0003t0002 a0008c0015t0002	a0001c0003t0002g0130 a0008c0015t0002g0131 a0001c0003t0002g0130 a0008c0015t0002g0131	2	298	0.0067	40	c.927 others(59): Show c.927+22983_927+22984insGAATGATATATATATATATATATGAA TGATATATATATAT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177199579	A A	ATTTTCTT others(33): Show ATTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02922.hp1 HG02615.hp1 HG02922.hp1	a0001 a0007 a0001 a0007	a0001c0005 a0007c0010 a0001c0005 a0007c0010	a0001c0005t0006 a0007c0010t0011 a0001c0005t0006 a0007c0010t0011	a0001c0005t0006g0021 a0007c0010t0011g0011 a0001c0005t0006g0021 a0007c0010t0011g0011	2	298	0.0067	40	c.106 others(59): Show c.1064-4507_1064-4506insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSG2_chr5_174040706_174114179	174080525	T T	TTCTTTCT others(33): Show TTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03834.hp1 HG04184.hp2 HG02683.hp2 HG03834.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0242 a0001c0001t0002g0248 a0001c0001t0006g0247 a0001c0001t0002g0242 a0001c0001t0002g0248 a0001c0001t0006g0247	3	294	0.0102	40	c.213 others(59): Show c.213+16213_213+16214insTTCTCTCTCTCTCTCTCTCTCTCTTT CTCTCTCTCTCTCT	NSG2	ENSG00000170091.11	transcript	ENST00000303177.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSMCE2_chr8_125086860_125372120	125213707	C C	CCCTTCCT others(33): Show CCCTTCCTTCCTTCCTTATTTCCTTCCTTCCTTCCTTATTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03579.hp2 NA19003.hp1 HG02630.hp1 HG03579.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0031 a0001c0001t0001g0151 a0001c0001t0001g0152	3	244	0.0123	40	c.418 others(59): Show c.418+31487_418+31488insATTTCCTTCCTTCCTTCCTTATTTCC TTCCTTCCTTCCTT	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125316732	T T	TTTCCTTC others(33): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18939.hp2 HG00423.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0221 a0001c0001t0001g0196 a0001c0001t0001g0221	2	244	0.0082	40	c.419 others(59): Show c.419-40448_419-40447insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTC	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	AAAAAAAA others(33): Show AAAAAAAATATATATATATATATATATATATATACACATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0006 a0005c0008t0006	a0005c0008t0006g0323 a0005c0008t0006g0323	1	346	0.0029	40	c.658 others(57): Show c.658-4615_658-4614insATATGTGTATATATATATATATATATAT ATATATTTTTTT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NT5C3A_chr7_33009130_33067776	33062806	C C	CGCGACGC others(33): Show CGCGACGCCCCGCCCCGCGCAGCGACGCCCCGCCCCGCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 NA20129.hp1 HG02486.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0242 a0001c0002t0003g0009 a0001c0001t0001g0242 a0001c0002t0003g0009	2	400	0.0050	40	c.-10 others(49): Show c.-102_-101insTGCGCGGGGCGGGGCGTCGCTGCGCGGGGCGGGGCG TCGC	NT5C3A	ENSG00000122643.23	transcript	ENST00000610140.7	protein_coding		31		chr7	TogoVar
NTM_chr11_131365615_132341822	131730721	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	86	0.0116	40	c.83- others(59): Show c.83-180841_83-180840insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAGAA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131874017	T T	TATAATTA others(33): Show TATAATTAATATAATATAATATAATATTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	86	0.0116	40	c.83- others(57): Show c.83-37542_83-37541insTAATATAATATAATATAATATTATATAT ATATATAATAAT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN1_chr17_9016510_9249000	9204193	C C	CTCCTTCC others(33): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0233 a0001c0002t0002g0233	1	258	0.0039	40	c.141 others(61): Show c.1412-16946_1412-16945insCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTT	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTRK1_chr1_156855865_156886850	156869018	C C	CCCTTCCT others(33): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0309 a0001c0003t0001g0309	1	392	0.0026	40	c.717 others(55): Show c.717+404_717+443dupCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTT	NTRK1	ENSG00000198400.14	transcript	ENST00000524377.7	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
NTS_chr12_85869295_85887992	85879463	G G	GTATATAA others(33): Show GTATATAAAATATATTTTATGTATATTTTATGTATATAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	420	0.0024	40	c.360 others(55): Show c.360+899_360+900insAAAATATATTTTATGTATATTTTATGTATA TAAAATATAT	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NTS_chr12_85869295_85887992	85879474	G G	GTATATAA others(33): Show GTATATAAAATATATTTTTTGTATATTTTATGTATATAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	2	420	0.0048	40	c.360 others(55): Show c.360+910_360+911insAAAATATATTTTTTGTATATTTTATGTATA TAAAATATAT	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	268	0.0037	40	c.514 others(59): Show c.514-27635_514-27634insTGTGTGTGTGTGAGAGAGAGAGAGAG AGAGAGAGAGAGAG	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(33): Show TGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	268	0.0037	40	c.514 others(59): Show c.514-27635_514-27634insTGTGTGTGTGTGTGAGAGAGAGAGAG AGAGAGAGAGAGAG	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(33): Show TGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0074 a0001c0001t0025g0074	1	268	0.0037	40	c.514 others(59): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGAGAGAGAGAG AGAGAGAGAGAGAG	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(33): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02083.hp1 HG02109.hp1 others(6): Show HG02004.hp1 HG02083.hp1 HG02109.hp1 HG03669.hp1 NA18612.hp2 NA18992.hp1 NA18993.hp2 NA19007.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0001t0019	a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0073 others(6): Show a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0010g0024 a0001c0001t0011g0101 a0001c0001t0019g0086	9	268	0.0336	40	c.514 others(59): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGTGAGAGAGAG AGAGAGAGAGAGAG	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(33): Show TGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18956.hp1 NA19002.hp1 others(1): Show HG01243.hp2 NA18956.hp1 NA19002.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0001t0001 a0001c0001t0010 a0001c0001t0011	a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0010g0023 others(1): Show a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0010g0023 a0001c0001t0011g0103	4	268	0.0149	40	c.514 others(59): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGTGTGAGAGAG AGAGAGAGAGAGAG	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(33): Show TGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0026 a0001c0001t0001g0028	2	268	0.0075	40	c.514 others(59): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGTGTGTGTGAG AGAGAGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUCB2_chr11_17271739_17337211	17288882	T T	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0214 a0002c0002t0002g0214	1	360	0.0028	40	c.-1+ others(55): Show c.-1+5969_-1+6008dupCACACACACACACACACACACACACACACA CACACACACA	NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUDCD1_chr8_109235919_109339087	109311556	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03225.hp2 HG01891.hp1 HG03225.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0207 a0005c0005t0007g0208 a0005c0005t0007g0207 a0005c0005t0007g0208	2	360	0.0056	40	c.273 others(59): Show c.273+10752_273+10753insATATATATATATATATATATATATAT ATATATATATATAT	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDCD1_chr8_109235919_109339087	109311559	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18970.hp2 NA19000.hp2 others(2): Show HG02280.hp1 NA18970.hp2 NA19000.hp2 NA19240.hp2 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0178 a0003c0003t0003g0179 a0003c0003t0003g0194 others(2): Show a0003c0003t0003g0178 a0003c0003t0003g0179 a0003c0003t0003g0194 a0003c0003t0003g0195 a0003c0003t0003g0200	5	360	0.0139	40	c.273 others(59): Show c.273+10749_273+10750insTATATATATATATATATATATATATA TATATATATATATA	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDCD1_chr8_109235919_109339087	109311559	G G	GTGTGTGT others(33): Show GTGTGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0045 a0003c0003t0004g0045	1	360	0.0028	40	c.273 others(59): Show c.273+10749_273+10750insTATATATATATATATATATATATATA TATATATACACACA	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDT12_chr5_103543855_103567789	103562821	G G	GAGGGGGG others(33): Show GAGGGGGGGGCGGGAGGGGGGCCGGGGGCGGGAGGGGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0005 a0001c0003t0005g0005	1	438	0.0023	40	c.-12 others(49): Show c.-126_-125insGGCCCCCCTCCCGCCCCCGGCCCCCCTCCCGCCCCC CCCT	NUDT12	ENSG00000112874.10	transcript	ENST00000230792.7	protein_coding		33		chr5	TogoVar
NUDT13_chr10_73105455_73136823	73125651	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp1 HG06807.hp2 HG01891.hp2 HG02647.hp1 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0162 a0002c0002t0003g0163 a0002c0002t0003g0168 a0002c0002t0003g0162 a0002c0002t0003g0163 a0002c0002t0003g0168	3	324	0.0093	40	c.703 others(55): Show c.703+168_703+169insTATATATATATATATATATATATATATATA TATATATATA	NUDT13	ENSG00000166321.14	transcript	ENST00000357321.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NUDT4_chr12_93372925_93413146	93382674	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0251 a0001c0002t0027g0251	1	414	0.0024	40	c.99+ others(55): Show c.99+4273_99+4274insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
NUFIP2_chr17_29250839_29299148	29276029	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03098.hp1 HG02615.hp1 HG03098.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0006 a0001c0003 a0003c0006	a0001c0003t0005 a0003c0006t0028 a0001c0003t0005 a0003c0006t0028	a0001c0003t0005g0294 a0003c0006t0028g0201 a0001c0003t0005g0294 a0003c0006t0028g0201	2	356	0.0056	40	c.200 others(59): Show c.2003-8500_2003-8499insATATATATATATATATATATATATAT ATATATATATATAT	NUFIP2	ENSG00000108256.9	transcript	ENST00000225388.9	protein_coding	2/3			chr17	TogoVar
NUMB_chr14_73270216_73463546	73372311	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATAACCTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	322	0.0031	40	c.-10 others(59): Show c.-100-5331_-100-5330insAAAGGTTATATATATATATATATATA TATATATATATATA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73440189	A A	AGATATCC others(33): Show AGATATCCATATATATATATGGATATCCATATATATATATG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	322	0.0031	40	c.-23 others(61): Show c.-233+18264_-233+18303dupCATATATATATATGGATATCCATA TATATATATGGATATC	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	1/12			chr14	TogoVar
NUP133_chr1_229435259_229513341	229472707	C C	CATACATA others(33): Show CATACATACATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0123 a0003c0003t0004g0123	1	276	0.0036	40	c.185 others(59): Show c.1852-1904_1852-1903insATATATATATATATATATATATATAT ATATATGTATGTAT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	14/25			chr1	TogoVar
NUP133_chr1_229435259_229513341	229472707	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0241 a0002c0002t0002g0241	1	276	0.0036	40	c.185 others(59): Show c.1852-1904_1852-1903insATATATATATATATATATATATATAT ATATATATATATAT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	14/25			chr1	TogoVar
NUP155_chr5_37283137_37376106	37295780	T T	TGTCTGAG others(33): Show TGTCTGAGAAGTGAGGAGCCCCTCCGCCCAGCAGCCGCCCC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0167 a0001c0003t0005g0167	1	300	0.0033	40	c.379 others(59): Show c.3794-1355_3794-1316dupGGGGCGGCTGCTGGGCGGAGGGGCTC CTCACTTCTCAGAC	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	32/34			chr5	TogoVar
NUP160_chr11_47773118_47853350	47775210	T T	TAGAAAAA others(33): Show TAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00741.hp2 HG01346.hp2 others(8): Show HG00673.hp1 HG00741.hp2 HG01346.hp2 HG01358.hp1 HG01891.hp2 HG02293.hp2 HG04199.hp1 NA18971.hp1 NA19056.hp2 NA19058.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0065 a0001c0001t0002g0191 others(8): Show a0001c0001t0002g0056 a0001c0001t0002g0065 a0001c0001t0002g0191 a0001c0001t0002g0195 a0001c0001t0002g0212 a0001c0001t0002g0279 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0295 a0001c0001t0002g0300 a0001c0001t0002g0305	11	338	0.0325	40	c.38 others(51): Show c.3894_*3895insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTCT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2907		chr11	TogoVar
NUP188_chr9_128942699_129012096	128984124	A A	ATTTTTTT others(33): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	296	0.0034	40	c.196 others(57): Show c.1961+593_1961+594insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding	19/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP210L_chr1_153987690_154160073	154125619	C C	CAGGAAGG others(33): Show CAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0201 a0002c0002t0001g0201	1	290	0.0035	40	c.132 others(57): Show c.1326+703_1326+704insTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCT	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	10/39			chr1	TogoVar
NUP210L_chr1_153987690_154160073	154125622	A A	AAAGGAAG others(33): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02027.hp1 HG02258.hp2 others(13): Show HG00733.hp1 HG02027.hp1 HG02258.hp2 HG02818.hp1 HG03209.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG04199.hp2 HG04204.hp2 NA18971.hp1 NA18975.hp2 NA18977.hp1 NA18994.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0035 others(13): Show a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0055 a0001c0001t0001g0186 a0001c0001t0001g0207 a0001c0001t0001g0229 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0270 a0001c0001t0001g0284 a0001c0003t0001g0214	16	290	0.0552	40	c.132 others(57): Show c.1326+661_1326+700dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTT	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	10/39			chr1	TogoVar
NUP98_chr11_3670019_3802554	3688820	C C	CATATACA others(33): Show CATATACATATATATATATATATTTAAATATACATATACAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0298 a0001c0026t0001g0298	1	342	0.0029	40	c.445 others(59): Show c.4454+2526_4454+2527insATGTATATGTATATTTAAATATATAT ATATATATGTATAT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	28/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3707738	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18995.hp2 NA19060.hp2 HG00408.hp1 NA18995.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0140 a0001c0001t0001g0174 a0001c0001t0001g0176	3	342	0.0088	40	c.274 others(59): Show c.2743-1112_2743-1111insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	20/32			chr11	TogoVar
NUPR1_chr16_28527708_28543974	28535503	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0147 a0001c0001t0147	a0001c0001t0147g0109 a0001c0001t0147g0109	1	368	0.0027	40	c.21 others(51): Show c.2140_*2179dupGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2515		chr16	TogoVar

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