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
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	a0001c0003t0002g0134 a0001c0003t0002g0134	1	289	0.0035	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 a0009 a0001 a0009	a0001c0003 a0009c0015 a0001c0003 a0009c0015	a0001c0003t0002 a0009c0015t0002 a0001c0003t0002 a0009c0015t0002	a0001c0003t0002g0131 a0009c0015t0002g0132 a0001c0003t0002g0131 a0009c0015t0002g0132	2	290	0.0069	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	a0001c0005t0006g0024 a0007c0010t0011g0015 a0001c0005t0006g0024 a0007c0010t0011g0015	2	242	0.0083	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	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0242 a0001c0001t0003g0251 a0001c0001t0006g0247 a0001c0001t0003g0242 a0001c0001t0003g0251 a0001c0001t0006g0247	3	176	0.0170	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	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0145 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0145	3	55	0.0545	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	a0001c0001t0001g0195 a0001c0001t0001g0221 a0001c0001t0001g0195 a0001c0001t0001g0221	2	44	0.0455	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	a0005c0008t0006g0319 a0005c0008t0006g0319	1	90	0.0111	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	a0001c0001t0001g0240 a0001c0002t0003g0010 a0001c0001t0001g0240 a0001c0002t0003g0010	2	395	0.0051	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	66	0.0152	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	163	0.0061	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	a0001c0003t0001g0286 a0001c0003t0001g0286	1	254	0.0039	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	a0001c0001t0001g0157 a0001c0001t0001g0157	1	363	0.0028	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	a0001c0001t0001g0047 a0001c0001t0001g0047	2	360	0.0056	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	a0001c0001t0002g0115 a0001c0001t0002g0115	1	22	0.0455	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	a0001c0001t0001g0237 a0001c0001t0001g0237	1	22	0.0455	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	a0001c0001t0025g0213 a0001c0001t0025g0213	1	22	0.0455	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	a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0212 others(6): Show a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0234 a0001c0001t0010g0228 a0001c0001t0011g0252 a0001c0001t0019g0230	9	30	0.3000	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	a0001c0001t0001g0215 a0001c0001t0001g0222 a0001c0001t0010g0227 others(1): Show a0001c0001t0001g0215 a0001c0001t0001g0222 a0001c0001t0010g0227 a0001c0001t0011g0255	4	25	0.1600	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	a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0244 a0001c0001t0001g0246	2	23	0.0870	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	a0002c0002t0002g0213 a0002c0002t0002g0213	1	169	0.0059	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	a0005c0005t0007g0204 a0005c0005t0007g0205 a0005c0005t0007g0204 a0005c0005t0007g0205	2	351	0.0057	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	a0003c0003t0003g0175 a0003c0003t0003g0176 a0003c0003t0003g0191 others(2): Show a0003c0003t0003g0175 a0003c0003t0003g0176 a0003c0003t0003g0191 a0003c0003t0003g0192 a0003c0003t0003g0197	5	120	0.0417	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	a0003c0003t0004g0052 a0003c0003t0004g0052	1	116	0.0086	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	402	0.0025	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	a0002c0002t0003g0034 a0002c0002t0003g0150 a0002c0002t0003g0154 a0002c0002t0003g0034 a0002c0002t0003g0150 a0002c0002t0003g0154	3	142	0.0211	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	a0001c0002t0027g0216 a0001c0002t0027g0216	1	170	0.0059	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 a0003c0006t0026 a0001c0003t0005 a0003c0006t0026	a0001c0003t0005g0288 a0003c0006t0026g0198 a0001c0003t0005g0288 a0003c0006t0026g0198	2	183	0.0109	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	318	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	209	0.0048	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	a0003c0003t0004g0121 a0003c0003t0004g0121	1	146	0.0068	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	a0002c0002t0002g0239 a0002c0002t0002g0239	1	146	0.0068	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	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0188 a0001c0003t0006g0188	1	298	0.0034	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	a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0189 others(8): Show a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0189 a0001c0001t0002g0194 a0001c0001t0002g0211 a0001c0001t0002g0278 a0001c0001t0002g0286 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0296 a0001c0001t0002g0303	11	265	0.0415	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	a0001c0001t0001g0007 a0001c0001t0001g0007	1	174	0.0057	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	281	0.0036	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	a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0034 others(13): Show a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0055 a0001c0001t0001g0186 a0001c0001t0001g0207 a0001c0001t0001g0230 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0272 a0001c0001t0001g0284 a0001c0003t0001g0214	16	38	0.4211	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	148	0.0068	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	22	0.1364	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	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	259	0.0039	40	c.21 others(51): Show c.2140_*2179dupGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2515		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(33): Show CTTTCTTTCCTTCTTTCTTTCTTTCTTTCCTTCCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp2 NA19004.hp2 HG02735.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	305	0.0066	40	c.21 others(51): Show c.2119_*2120insAAAGAAAGGAAGGAAAGAAAGAAAGAAAGAAGGA AAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(33): Show CTTTCTTTCCTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	304	0.0033	40	c.21 others(51): Show c.2119_*2120insAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAGGA AAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(33): Show CTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01952.hp1 HG01952.hp2 HG02135.hp1 others(3): Show HG01952.hp1 HG01952.hp2 HG02135.hp1 HG03486.hp2 NA18979.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0041 a0001c0001t0002 a0001c0001t0041	a0001c0001t0002g0002 a0001c0001t0041g0068 a0001c0001t0002g0002 a0001c0001t0041g0068	6	309	0.0194	40	c.21 others(51): Show c.2119_*2120insAAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGA AAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535571	C C	CTTTCTTT others(33): Show CTTTCTTTCTTTCTTTCCTTCCTTCTTTCTTTCTTTCTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0043 a0001c0001t0040g0043	1	131	0.0076	40	c.21 others(51): Show c.2111_*2112insAAAAGAAAGAAAGAAAGAAGGAAGGAAAGAAAGA AAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2447		chr16	TogoVar
NUPR2_chr7_56109681_56121417	56115412	T T	TATACATA others(33): Show TATACATATGTATATATATACATATATATGTATATATATAC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18984.hp1 NA18986.hp1 NA18970.hp1 NA18984.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	3	445	0.0067	40	c.7- others(53): Show c.7-516_*7-515insGTATATATATACATATATATGTATATATATAC ATATGTAT	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115415	A A	ACATATGT others(33): Show ACATATGTATATATATACATATATATGTATATATATACATG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02280.hp1 HG03579.hp1 HG01346.hp1 HG02280.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0036 a0001c0001t0007g0075 a0001c0001t0001g0036 a0001c0001t0007g0075	3	329	0.0091	40	c.7- others(53): Show c.7-519_*7-518insCATGTATATATATACATATATATGTATATATA TACATATG	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115417	A A	ACACATGT others(33): Show ACACATGTATATATATACATATATATGTATATATATACATG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	2	298	0.0067	40	c.7- others(53): Show c.7-521_*7-520insCATGTATATATATACATATATATGTATATATA TACATGTG	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115417	A A	ACATATGT others(33): Show ACATATGTATATATATACATATATATGTATATATATACATG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03041.hp2 HG03225.hp2 HG02040.hp2 HG03041.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	3	299	0.0100	40	c.7- others(53): Show c.7-521_*7-520insCATGTATATATATACATATATATGTATATATA TACATATG	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115417	A A	ACATATGT others(33): Show ACATATGTATATATATATATATATACGTATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02258.hp1 HG02451.hp2 others(9): Show HG01978.hp1 HG02258.hp1 HG02451.hp2 HG02717.hp1 HG02738.hp2 HG02965.hp1 HG03195.hp1 HG03516.hp2 NA18522.hp2 NA18980.hp2 NA18986.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 others(6): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0004g0063 a0001c0001t0004g0064	12	308	0.0390	40	c.7- others(53): Show c.7-521_*7-520insCACACATATATATACGTATATATATATATATA TACATATG	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115421	A A	ATGTATAT others(33): Show ATGTATATATATACATATATATGTATATATATACATGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	422	0.0024	40	c.7- others(53): Show c.7-525_*7-524insCACACATGTATATATATACATATATATGTATA TATATACA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar

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