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	50447737	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02280.hp2 HG00438.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0010 a0001c0002t0007 a0001c0002t0010	a0001c0002t0007g0089 a0001c0002t0010g0106 a0001c0002t0007g0089 a0001c0002t0010g0106	2	116	0.0172	34	c.336 others(55): Show c.3364+17704_3364+17705insTATATATATATATATATATATATA TATATATAAA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50610642	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0071 a0001c0001t0064g0071	1	116	0.0086	34	c.132 others(53): Show c.1320+9346_1320+9379dupATATATATATATATATATATATATAT ATATATAT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	8/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0057 a0001c0001t0008g0057	1	116	0.0086	34	c.833 others(53): Show c.833-60032_833-60031insATATATATATATATTTTTTTTTTTTT TTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02683.hp1 HG02647.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0032 a0001c0002t0001 a0001c0001t0032 a0001c0002t0001	a0001c0001t0032g0007 a0001c0002t0001g0080 a0001c0001t0032g0007 a0001c0002t0001g0080	2	116	0.0172	34	c.833 others(53): Show c.833-60032_833-60031insATATATATATATATATATTTTTTTTT TTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AATAAAAA others(27): Show AATAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	116	0.0086	34	c.833 others(53): Show c.833-60032_833-60031insATATATATATATATATTTTTTTTTTT TTTTTTAT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NSA2_chr5_74762249_74785113	74770512	A A	ATGTGTTG others(27): Show ATGTGTTGATGGTCAAGCAAAAAAAATAGATCTAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	402	0.0025	34	c.343 others(48): Show c.343-117_343-84dupGTGTTGATGGTCAAGCAAAAAAAATAGATCT ATT	NSA2	ENSG00000164346.10	transcript	ENST00000610426.5	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD2_chr4_1866393_1987192	1872591	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	130	0.0077	34	c.-30 others(51): Show c.-30+1050_-30+1051insTGTGTGTGTGTGAGAGAGAGAGAGAGAG AGAGAG	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSG2_chr5_174040706_174114179	174080525	T T	TTCTTTCT others(27): Show TTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTCTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01099.hp1 others(22): Show HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01109.hp2 HG01243.hp1 HG01891.hp2 HG02258.hp2 HG02293.hp1 HG02572.hp1 HG02647.hp1 HG02723.hp2 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03942.hp1 HG04204.hp1 NA18906.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0024 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0024 a0001c0002t0002	a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 others(22): Show a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0246 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0006g0239 a0001c0001t0006g0251 a0001c0001t0006g0255 a0001c0001t0006g0260 a0001c0001t0024g0272 a0001c0002t0002g0235	25	294	0.0850	34	c.213 others(53): Show c.213+16213_213+16214insTTCTCTCTCTCTCTCTCTCTCTCTTT CTCTCTCT	NSG2	ENSG00000170091.11	transcript	ENST00000303177.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18944.hp2 HG02717.hp1 NA18944.hp2	a0003 a0007 a0003 a0007	a0003c0003 a0007c0007 a0003c0003 a0007c0007	a0003c0003t0003 a0007c0007t0027 a0003c0003t0003 a0007c0007t0027	a0003c0003t0003g0169 a0007c0007t0027g0311 a0003c0003t0003g0169 a0007c0007t0027g0311	2	388	0.0052	34	c.754 others(49): Show c.754-454_754-453insAAAAAAAAAAAAAATATATATATATATATA TATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0027 a0007c0007t0027	a0007c0007t0027g0310 a0007c0007t0027g0310	1	388	0.0026	34	c.754 others(49): Show c.754-454_754-453insAAAAAAAAAAAATATATATATATATATATA TATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0176 a0003c0003t0003g0176	1	388	0.0026	34	c.754 others(49): Show c.754-454_754-453insAAAAAAAAAATATATATATATATATATATA TATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0204 a0003c0003t0003g0204	1	388	0.0026	34	c.754 others(49): Show c.754-454_754-453insAAAAAAAATATATATATATATATATATATA TATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	346	0.0029	34	c.658 others(51): Show c.658-4615_658-4614insATATATATATATATATATATATATATAT ATATTT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600959	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	346	0.0029	34	c.658 others(51): Show c.658-4633_658-4632insGTATGTATATATATATATATATATATAT ATATAT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600959	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	346	0.0029	34	c.658 others(51): Show c.658-4633_658-4632insGTGTATATATATATATATATATATATAT ATATAT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NT5C2_chr10_103083038_103198272	103183291	A A	ATTTTATA others(27): Show ATTTTATATATATATATATTATATATATATATATC	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18981.hp1 HG00544.hp2 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0026 a0001c0002t0003g0063 a0001c0002t0003g0026 a0001c0002t0003g0063	2	340	0.0059	34	c.-16 others(53): Show c.-168-1964_-168-1963insGATATATATATATATAATATATATAT ATATAAAA	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	1/18			chr10	TogoVar
NTM_chr11_131365615_132341822	131401799	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATGTGT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	86	0.0116	34	c.82+ others(51): Show c.82+30941_82+30942insGTGTATATATATATATATATATATATAT ATATAT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131730721	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03130.hp1 HG01884.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0022 a0001c0001t0009g0050 a0001c0001t0002g0022 a0001c0001t0009g0050	2	86	0.0233	34	c.83- others(53): Show c.83-180841_83-180840insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAGAA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN4_chr12_95652807_95795764	95694319	G G	GGCGGCCA others(27): Show GGCGGCCACTCCCTCCGCGCGGCCACTCCCTCCGC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	324	0.0031	34	c.118 others(55): Show c.1181-10609_1181-10608insGCGGAGGGAGTGGCCGCGCGGAGG GAGTGGCCGC	NTN4	ENSG00000074527.13	transcript	ENST00000343702.9	protein_coding	5/9			chr12	TogoVar
NTNG1_chr1_107136039_107489923	107181550	G G	GAAGGTGG others(27): Show GAAGGTGGCTTTTAAACATTTTCCAGAATCCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00639.hp1 others(97): Show HG00140.hp1 HG00140.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG01071.hp1 HG01071.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG02071.hp2 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18984.hp1 NA18992.hp1 NA18992.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19068.hp2 NA19088.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0015 a0001c0002t0016 a0001c0003t0003 a0001c0003t0007 a0001c0005t0047	a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0025 others(97): Show a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0088 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0036 a0001c0001t0002g0044 a0001c0001t0002g0067 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0003g0022 a0001c0001t0003g0040 a0001c0001t0003g0047 a0001c0001t0003g0049 a0001c0001t0003g0064 a0001c0001t0003g0099 a0001c0001t0003g0119 a0001c0001t0004g0007 a0001c0001t0004g0018 a0001c0001t0004g0023 a0001c0001t0004g0039 a0001c0001t0005g0068 a0001c0001t0005g0120 a0001c0001t0005g0146 a0001c0001t0006g0027 a0001c0001t0006g0037 a0001c0001t0006g0114 a0001c0001t0006g0143 a0001c0001t0007g0113 a0001c0001t0007g0122 a0001c0001t0008g0062 a0001c0001t0010g0097 a0001c0001t0010g0127 a0001c0001t0011g0045 a0001c0001t0011g0052 a0001c0001t0012g0009 a0001c0001t0012g0010 a0001c0001t0012g0017 a0001c0001t0013g0100 a0001c0001t0013g0126 a0001c0001t0014g0058 a0001c0001t0015g0055 a0001c0001t0017g0080 a0001c0001t0017g0084 a0001c0001t0018g0095 a0001c0001t0018g0117 a0001c0001t0019g0006 a0001c0001t0020g0070 a0001c0001t0021g0061 a0001c0001t0021g0076 a0001c0001t0022g0093 a0001c0001t0023g0096 a0001c0001t0024g0109 a0001c0001t0030g0079 a0001c0001t0033g0054 a0001c0001t0034g0057 a0001c0001t0035g0059 a0001c0001t0040g0032 a0001c0001t0041g0111 a0001c0001t0042g0078 a0001c0001t0043g0115 a0001c0001t0045g0033 a0001c0001t0046g0121 a0001c0001t0049g0108 a0001c0001t0051g0035 a0001c0001t0052g0065 a0001c0001t0053g0135 a0001c0001t0054g0090 a0001c0001t0055g0094 a0001c0001t0056g0089 a0001c0001t0057g0075 a0001c0001t0058g0091 a0001c0001t0059g0092 a0001c0002t0001g0087 a0001c0002t0002g0131 a0001c0002t0008g0144 a0001c0002t0009g0043 a0001c0002t0015g0060 a0001c0002t0016g0005 a0001c0003t0003g0077 a0001c0003t0007g0132 a0001c0005t0047g0139	100	150	0.6667	34	c.246 others(53): Show c.246+32713_246+32714insGGTGGCTTTTAAACATTTTCCAGAAT CCTTTCAA	NTNG1	ENSG00000162631.20	transcript	ENST00000370068.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
NTNG1_chr1_107136039_107489923	107386133	A A	ATATATAT others(27): Show ATATATATATACACATATATATACTTATATGTATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02486.hp2 others(7): Show HG01109.hp1 HG02145.hp2 HG02486.hp2 HG02572.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG06807.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0001t0001 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0072 a0001c0001t0001g0088 a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0001t0007g0122 a0001c0002t0001g0087	10	150	0.0667	34	c.888 others(51): Show c.888-9011_888-9010insCACATATATATACTTATATGTATGTATA TATATA	NTNG1	ENSG00000162631.20	transcript	ENST00000370068.6	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
NUBPL_chr14_31556404_31866224	31666263	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0116 a0001c0001t0009g0116	1	268	0.0037	34	c.383 others(51): Show c.383-7092_383-7091insTATATATATATATATATATATATATATA TTTATT	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	4/10			chr14	TogoVar
NUBPL_chr14_31556404_31866224	31739184	A A	ATATATAT others(27): Show ATATATATATATTATATTCTATATATATATTATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0019 a0001c0003t0027g0019	1	268	0.0037	34	c.514 others(53): Show c.514-48584_514-48551dupTATATTCTATATATATATTATATTAT ATATATAT	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(27): Show TGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02818.hp1 HG02647.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0249 a0001c0001t0002g0137 a0001c0001t0002g0249	2	268	0.0075	34	c.514 others(53): Show c.514-27635_514-27634insTGTGTGTGTGAGAGAGAGAGAGAGAG AGAGAGAG	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(27): Show TGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0213 a0001c0001t0008g0213	1	268	0.0037	34	c.514 others(53): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGAGAGAGAGAG AGAGAGAG	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(27): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19082.hp2 NA19079.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0081 a0001c0001t0001g0064 a0001c0001t0001g0081	2	268	0.0075	34	c.514 others(53): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGTGAGAGAGAG AGAGAGAG	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(27): Show TGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18522.hp1 NA19003.hp1 HG02523.hp2 NA18522.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0050 a0001c0001t0001g0069 a0001c0001t0010g0021 a0001c0001t0001g0050 a0001c0001t0001g0069 a0001c0001t0010g0021	3	268	0.0112	34	c.514 others(53): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGTGTGAGAGAG AGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31841917	C C	CTTTTGTT others(27): Show CTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0227 a0001c0001t0005g0227	1	268	0.0037	34	c.694 others(51): Show c.694-4550_694-4549insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUCB2_chr11_17271739_17337211	17288880	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	360	0.0028	34	c.-1+ others(49): Show c.-1+5938_-1+5939insCACACACACACACACACACACACACACACA CACA	NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUCB2_chr11_17271739_17337211	17288882	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02559.hp1 NA18950.hp1 others(1): Show HG01928.hp2 HG02559.hp1 NA18950.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0101 a0001c0001t0002g0011 a0001c0001t0002g0188 others(1): Show a0001c0001t0001g0101 a0001c0001t0002g0011 a0001c0001t0002g0188 a0001c0001t0002g0201	4	360	0.0111	34	c.-1+ others(49): Show c.-1+5975_-1+6008dupCACACACACACACACACACACACACACACA CACA	NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUCB2_chr11_17271739_17337211	17288950	C C	CACACACA others(27): Show CACACACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0171 a0002c0002t0002g0171	1	360	0.0028	34	c.-1+ others(49): Show c.-1+6008_-1+6009insCACACACACACACACACACACACACACACA CATA	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(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0174 a0005c0005t0007g0174	1	360	0.0028	34	c.273 others(53): Show c.273+10752_273+10753insATATATATATATATATATATATATAT ATATATAT	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDCD1_chr8_109235919_109339087	109311559	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19010.hp1 HG02886.hp2 NA19010.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0193 a0003c0003t0003g0199 a0003c0003t0003g0193 a0003c0003t0003g0199	2	360	0.0056	34	c.273 others(53): Show c.273+10749_273+10750insTATATATATATATATATATATATATA TATATATA	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDCD1_chr8_109235919_109339087	109311559	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02647.hp1 HG02965.hp2 others(1): Show HG02451.hp1 HG02647.hp1 HG02965.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0003c0003t0004 a0001c0001t0001 a0003c0003t0003 a0003c0003t0004	a0001c0001t0001g0342 a0003c0003t0003g0037 a0003c0003t0003g0040 others(1): Show a0001c0001t0001g0342 a0003c0003t0003g0037 a0003c0003t0003g0040 a0003c0003t0004g0344	4	360	0.0111	34	c.273 others(53): Show c.273+10749_273+10750insTATATATATATATATATATATATATA TATATACA	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDT12_chr5_103543855_103567789	103557280	G G	GGTATATA others(27): Show GGTATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG04204.hp2 HG02056.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0078 a0001c0001t0003g0110 a0001c0001t0002g0078 a0001c0001t0003g0110	2	438	0.0046	34	c.797 others(51): Show c.797-1183_797-1182insATATATATATATATATATATATATATAT ATATAC	NUDT12	ENSG00000112874.10	transcript	ENST00000230792.7	protein_coding	3/6			chr5	TogoVar
NUDT12_chr5_103543855_103567789	103557280	G G	GGTGTATA others(27): Show GGTGTATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	438	0.0023	34	c.797 others(51): Show c.797-1183_797-1182insATATATATATATATATATATATATATAT ATACAC	NUDT12	ENSG00000112874.10	transcript	ENST00000230792.7	protein_coding	3/6			chr5	TogoVar
NUDT13_chr10_73105455_73136823	73125651	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03486.hp2 HG03098.hp1 HG03486.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0009 a0002c0002 a0006c0009	a0002c0002t0003 a0006c0009t0004 a0002c0002t0003 a0006c0009t0004	a0002c0002t0003g0160 a0006c0009t0004g0157 a0002c0002t0003g0160 a0006c0009t0004g0157	2	324	0.0062	34	c.703 others(49): Show c.703+168_703+169insTATATATATATATATATATATATATATATA TATA	NUDT13	ENSG00000166321.14	transcript	ENST00000357321.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NUDT4_chr12_93372925_93413146	93406275	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0175 a0001c0001t0175	a0001c0001t0175g0284 a0001c0001t0175g0284	1	414	0.0024	34	c.69 others(45): Show c.6926_*6927insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	5/5	6927	INFO_REALIGN_3_PRIME	chr12	TogoVar
NUF2_chr1_163316954_163360759	163359848	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01952.hp1 HG02083.hp1 others(1): Show HG01358.hp1 HG01952.hp1 HG02083.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0001 a0003c0005t0001 a0001c0002t0001 a0003c0005t0001	a0001c0002t0001g0199 a0001c0002t0001g0203 a0003c0005t0001g0160 others(1): Show a0001c0002t0001g0199 a0001c0002t0001g0203 a0003c0005t0001g0160 a0003c0005t0001g0164	4	400	0.0100	34	c.43 others(45): Show c.4379_*4380insTATATATATATATATATATATATATATATATATA	NUF2	ENSG00000143228.13	transcript	ENST00000271452.8	protein_coding		4090		chr1	TogoVar
NUFIP2_chr17_29250839_29299148	29276029	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01934.hp2 HG02055.hp2 HG01123.hp2 HG01934.hp2 HG02055.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0006 a0001c0001 a0001c0003 a0003c0006	a0001c0001t0005 a0001c0003t0005 a0003c0006t0030 a0001c0001t0005 a0001c0003t0005 a0003c0006t0030	a0001c0001t0005g0281 a0001c0003t0005g0296 a0003c0006t0030g0219 a0001c0001t0005g0281 a0001c0003t0005g0296 a0003c0006t0030g0219	3	356	0.0084	34	c.200 others(53): Show c.2003-8500_2003-8499insATATATATATATATATATATATATAT ATATATAT	NUFIP2	ENSG00000108256.9	transcript	ENST00000225388.9	protein_coding	2/3			chr17	TogoVar
NUMA1_chr11_71997864_72085542	72049559	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG04228.hp2 NA18992.hp1 HG03579.hp1 HG04228.hp2 NA18992.hp1	a0001 a0016 a0019 a0001 a0016 a0019	a0001c0001 a0016c0025 a0019c0030 a0001c0001 a0016c0025 a0019c0030	a0001c0001t0001 a0016c0025t0001 a0019c0030t0001 a0001c0001t0001 a0016c0025t0001 a0019c0030t0001	a0001c0001t0001g0119 a0016c0025t0001g0204 a0019c0030t0001g0226 a0001c0001t0001g0119 a0016c0025t0001g0204 a0019c0030t0001g0226	3	244	0.0123	34	c.-32 others(53): Show c.-32-13585_-32-13584insTATATATATATATATATATATATATA TATATATA	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUMB_chr14_73270216_73463546	73395037	T T	TTGTGTGT others(27): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	322	0.0031	34	c.-10 others(55): Show c.-101+14866_-101+14899dupCACACACACACACACACACACACA CACACACACA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUP133_chr1_229435259_229513341	229472707	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01071.hp1 HG02615.hp2 others(4): Show HG00438.hp2 HG01071.hp1 HG02615.hp2 HG03130.hp1 HG03942.hp2 NA18980.hp2 NA19060.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002	a0002c0002t0002g0221 a0002c0002t0002g0226 a0002c0002t0002g0236 others(4): Show a0002c0002t0002g0221 a0002c0002t0002g0226 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0003c0003t0001g0021 a0003c0003t0002g0118	7	276	0.0254	34	c.185 others(53): Show c.1852-1904_1852-1903insATATATATATATATATATATATATAT ATATATAT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	14/25			chr1	TogoVar
NUP155_chr5_37283137_37376106	37294005	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0094 a0001c0001t0018g0094	1	300	0.0033	34	c.393 others(51): Show c.3930+323_3930+324insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	33/34			chr5	TogoVar
NUP160_chr11_47773118_47853350	47775210	T T	TAGAAAAA others(27): Show TAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG03654.hp2 NA18990.hp2 others(2): Show HG00597.hp1 HG03654.hp2 NA18990.hp2 NA19081.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0200 a0001c0001t0002g0276 a0001c0001t0002g0294 others(2): Show a0001c0001t0002g0200 a0001c0001t0002g0276 a0001c0001t0002g0294 a0001c0001t0002g0303 a0001c0001t0004g0286	5	338	0.0148	34	c.38 others(45): Show c.3894_*3895insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2907		chr11	TogoVar
NUP205_chr7_135552917_135653753	135570788	T T	TAATATAT others(27): Show TAATATATTATATTAATATATATTAATTATATTAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02572.hp1 HG02572.hp2 others(7): Show HG00639.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02818.hp2 HG02965.hp1 HG02970.hp1 HG03486.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 others(7): Show a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0003t0001g0101	10	352	0.0284	34	c.29- others(47): Show c.29-317_29-316insAATATATTATATTAATATATATTAATTATATT AA	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42			chr7	TogoVar
NUP205_chr7_135552917_135653753	135570788	T T	TAATATAT others(27): Show TAATATATTATATTAATATATATTGATTATATTAA	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0228 a0001c0002t0001g0228	1	352	0.0028	34	c.29- others(47): Show c.29-317_29-316insAATATATTATATTAATATATATTGATTATATT AA	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42			chr7	TogoVar
NUP205_chr7_135552917_135653753	135570788	T T	TTATATAT others(27): Show TTATATATTATATTAATATATATTGATTATATTAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0229 a0001c0002t0001g0229	1	352	0.0028	34	c.29- others(47): Show c.29-294_29-293insGATTATATTAATATATATTATATTAATATATA TT	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(27): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0211 a0001c0003t0001g0212	2	352	0.0057	34	c.493 others(51): Show c.4933-867_4933-834dupCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	34/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP54_chr4_76109664_76153397	76151611	T T	TGTCGGAA others(27): Show TGTCGGAAGATAAAGGTGAAGAAATCTCTCAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0028 a0002c0002t0003g0028	1	370	0.0027	34	c.-32 others(45): Show c.-3238_-3237insTTTCTGAGAGATTTCTTCACCTTTATCTTCCGAC	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding		3215		chr4	TogoVar

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Search Results (Total: 7994 hits)