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
NOC4L_chr12_132139457_132157468	132150016	CACACCCC others(29): Show CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18952.hp1 HG03516.hp1 NA18952.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0035 a0001c0001 a0003c0035	a0001c0001t0001 a0003c0035t0001 a0001c0001t0001 a0003c0035t0001	a0001c0001t0001g0240 a0003c0035t0001g0047 a0001c0001t0001g0240 a0003c0035t0001g0047	2	294	0.0068	-36	c.902 others(51): Show c.902-964_902-929delACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCG	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOL4L_chr20_32438059_32590333	32488789	TCCTTTCT others(29): Show TCCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0185 a0001c0001t0039g0185	1	196	0.0051	-36	c.700 others(55): Show c.700-14083_700-14048delGAAAGAAAGAAAGAAAGAAAAAGAAA GAAAGAAAGG	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32488791	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 NA18979.hp1 NA20905.hp1 HG01070.hp1 NA18979.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016	a0001c0001t0003g0085 a0001c0001t0005g0173 a0001c0001t0016g0101 a0001c0001t0003g0085 a0001c0001t0005g0173 a0001c0001t0016g0101	3	196	0.0153	-36	c.700 others(55): Show c.700-14085_700-14050delAAGAAAGAAAGAAAGAAAGAAAAAGA AAGAAAGAAA	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOS1_chr12_117203142_117366626	117359876	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG00621.hp2 others(15): Show HG00323.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG01099.hp1 HG01109.hp1 HG02083.hp2 HG02135.hp1 HG02451.hp2 HG02559.hp2 HG02647.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03453.hp1 HG03834.hp2 NA18906.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0001c0010 a0001c0015 a0001c0037	a0001c0001t0041 a0001c0001t0042 a0001c0001t0046 others(14): Show a0001c0001t0041 a0001c0001t0042 a0001c0001t0046 a0001c0001t0047 a0001c0001t0050 a0001c0002t0019 a0001c0002t0020 a0001c0002t0021 a0001c0002t0052 a0001c0007t0043 a0001c0008t0021 a0001c0008t0051 a0001c0010t0044 a0001c0010t0045 a0001c0010t0088 a0001c0015t0054 a0001c0037t0040	a0001c0001t0041g0024 a0001c0001t0042g0025 a0001c0001t0046g0015 others(15): Show a0001c0001t0041g0024 a0001c0001t0042g0025 a0001c0001t0046g0015 a0001c0001t0047g0014 a0001c0001t0050g0008 a0001c0002t0019g0005 a0001c0002t0020g0007 a0001c0002t0020g0017 a0001c0002t0021g0004 a0001c0002t0052g0006 a0001c0007t0043g0003 a0001c0008t0021g0002 a0001c0008t0051g0009 a0001c0010t0044g0011 a0001c0010t0045g0012 a0001c0010t0088g0171 a0001c0015t0054g0010 a0001c0037t0040g0013	18	294	0.0612	-36	c.-42 others(55): Show c.-421+1600_-421+1635delTATATATATATATATATATATATATA TATATATATA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28			chr12	TogoVar
NOS3_chr7_150986017_151019588	151002383	AACACACA others(29): Show AACACACACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18985.hp1 NA18963.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0173 a0001c0001t0001g0174	2	382	0.0052	-36	c.175 others(53): Show c.1752+114_1752+149delACACACACACACACACACACACACACAC ACACACAC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOTCH2_chr1_119906553_120074662	119999952	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA20129.hp2 HG03579.hp1 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0109 a0001c0004t0008g0111 a0001c0004t0008g0109 a0001c0004t0008g0111	2	168	0.0119	-36	c.416 others(53): Show c.416-2656_416-2621delCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTT	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	3/33			chr1	TogoVar
NOVA2_chr19_45928734_45978865	45973364	GGGCGGCG others(29): Show GGGCGGCGGCTGCTGCTGCTGCGGCGGCTGCGGCGGC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0029 a0001c0001t0053g0029	1	402	0.0025	-36	c.-49 others(43): Show c.-49_-14delGCCGCCGCAGCCGCCGCAGCAGCAGCAGCCGCCGCC	NOVA2	ENSG00000104967.8	transcript	ENST00000263257.6	protein_coding	1/4	14		chr19	TogoVar
NPAS3_chr14_32933879_33809173	33543946	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp1 HG03195.hp2 HG01243.hp1 HG02451.hp1 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0048 a0002c0002t0023 a0001c0001t0006 a0001c0001t0048 a0002c0002t0023	a0001c0001t0006g0021 a0001c0001t0048g0045 a0002c0002t0023g0028 a0001c0001t0006g0021 a0001c0001t0048g0045 a0002c0002t0023g0028	3	92	0.0326	-36	c.469 others(55): Show c.469-16154_469-16119delATATATATATATATATATATATATAT ATATATATAT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPBWR2_chr20_64098802_64112565	64105571	GGGTGGGG others(29): Show GGGTGGGGGTGGGGGTGGGGGTGATGGTGGGCGTGAT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp2 HG02132.hp2 NA19065.hp1 others(1): Show HG00558.hp2 HG02132.hp2 NA19065.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0047 a0001c0001t0020 a0001c0001t0047	a0001c0001t0020g0024 a0001c0001t0047g0090 a0001c0001t0020g0024 a0001c0001t0047g0090	4	355	0.0113	-36	c.22 others(45): Show c.223_*258delATCACGCCCACCATCACCCCCACCCCCACCCCCACC	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	223		chr20	TogoVar
NPHP4_chr1_5857811_5997425	5922676	AGGCACGG others(29): Show AGGCACGGTGGCACTGTCTGCAGTCCTGGCTTAGCCG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02896.hp2 HG02055.hp1 HG02451.hp1 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204	3	208	0.0144	-36	c.144 others(55): Show c.1441+4937_1441+4972delCGGCTAAGCCAGGACTGCAGACAGTG CCACCGTGCC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	11/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5922692	TCTGCAGT others(29): Show TCTGCAGTCCTGGCTTAGCCGGGCACGGTGGCACTGC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02630.hp1 HG02647.hp1 others(8): Show HG02055.hp2 HG02630.hp1 HG02647.hp1 HG02809.hp2 HG02896.hp1 HG02965.hp1 HG03098.hp2 HG03453.hp1 HG03453.hp2 HG03710.hp2 HG06807.hp1	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0015	a0001c0001 a0002c0006 a0002c0031 others(3): Show a0001c0001 a0002c0006 a0002c0031 a0002c0032 a0010c0022 a0015c0030	a0001c0001t0001 a0002c0006t0001 a0002c0006t0002 others(4): Show a0001c0001t0001 a0002c0006t0001 a0002c0006t0002 a0002c0031t0001 a0002c0032t0002 a0010c0022t0005 a0015c0030t0001	a0001c0001t0001g0031 a0002c0006t0001g0134 a0002c0006t0001g0135 others(8): Show a0001c0001t0001g0031 a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 a0002c0006t0002g0195 a0002c0006t0002g0197 a0002c0006t0002g0198 a0002c0031t0001g0137 a0002c0032t0002g0196 a0010c0022t0005g0207 a0015c0030t0001g0138	11	208	0.0529	-36	c.144 others(55): Show c.1441+4921_1441+4956delGCAGTGCCACCGTGCCCGGCTAAGCC AGGACTGCAG	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	11/29			chr1	TogoVar
NPIPA5_chr16_15358628_15383294	15376747	TCTACTAA others(29): Show TCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	430	0.0023	-36	c.63+ others(51): Show c.63+1449_63+1484delGCCACCACGCCTGGCTAATTTTTGTATTTT TAGTAG	NPIPA5	ENSG00000183793.14	transcript	ENST00000360151.9	protein_coding	1/7			chr16	TogoVar
NPIPA5_chr16_15358628_15383294	15376783	CCTACTAA others(29): Show CCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGT	C C	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0233 a0002c0003t0003g0233	1	430	0.0023	-36	c.63+ others(51): Show c.63+1413_63+1448delACCACCACGCCTGGCTAATTTTTGTATTTT TAGTAG	NPIPA5	ENSG00000183793.14	transcript	ENST00000360151.9	protein_coding	1/7			chr16	TogoVar
NPIPA7_chr16_16374140_16398972	16380702	ATGTTTGT others(29): Show ATGTTTGTATTTTTAGTAGACCACCACGCCTGGCTAC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02451.hp2 HG02922.hp1 others(9): Show HG00642.hp2 HG02451.hp2 HG02922.hp1 HG02922.hp2 HG03491.hp2 HG04115.hp2 NA18612.hp1 NA18954.hp2 NA19007.hp1 NA19066.hp2 NA19091.hp2 NA20905.hp1	a0003 a0004 a0008 others(1): Show a0003 a0004 a0008 a0010	a0003c0006 a0004c0004 a0004c0007 others(2): Show a0003c0006 a0004c0004 a0004c0007 a0008c0009 a0010c0014	a0003c0006t0001 a0004c0004t0002 a0004c0007t0002 others(2): Show a0003c0006t0001 a0004c0004t0002 a0004c0007t0002 a0008c0009t0001 a0010c0014t0001	a0003c0006t0001g0010 a0004c0004t0002g0012 a0004c0004t0002g0013 others(9): Show a0003c0006t0001g0010 a0004c0004t0002g0012 a0004c0004t0002g0013 a0004c0004t0002g0014 a0004c0004t0002g0015 a0004c0004t0002g0016 a0004c0004t0002g0017 a0004c0004t0002g0020 a0004c0007t0002g0018 a0004c0007t0002g0019 a0008c0009t0001g0009 a0010c0014t0001g0053	12	132	0.0909	-36	c.63+ others(51): Show c.63+1397_63+1432delGTTTGTATTTTTAGTAGACCACCACGCCTG GCTACT	NPIPA7	ENSG00000214967.6	transcript	ENST00000530217.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPA8_chr16_18312919_18341736	18331167	AAGTAGCC others(29): Show AAGTAGCCAGGCGTGGTGGTCTACTAAAAATACAAAC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp2 HG01517.hp2 others(4): Show HG00609.hp2 HG00639.hp2 HG01517.hp2 HG01884.hp2 NA18982.hp1 NA19010.hp2 NA19084.hp2	a0002 a0004 a0005 others(2): Show a0002 a0004 a0005 a0006 a0007	a0002c0005 a0002c0008 a0004c0006 others(3): Show a0002c0005 a0002c0008 a0004c0006 a0005c0009 a0006c0007 a0007c0010	a0002c0005t0004 a0002c0005t0005 a0002c0008t0007 others(4): Show a0002c0005t0004 a0002c0005t0005 a0002c0008t0007 a0004c0006t0003 a0005c0009t0008 a0006c0007t0003 a0007c0010t0006	a0002c0005t0004g0032 a0002c0005t0005g0033 a0002c0008t0007g0010 others(4): Show a0002c0005t0004g0032 a0002c0005t0005g0033 a0002c0008t0007g0010 a0004c0006t0003g0039 a0005c0009t0008g0009 a0006c0007t0003g0038 a0007c0010t0006g0037	7	40	0.1750	-36	c.63+ others(51): Show c.63+1397_63+1432delGTTTGTATTTTTAGTAGACCACCACGCCTG GCTACT	NPIPA8	ENSG00000214940.9	transcript	ENST00000525596.6	protein_coding	3/9			chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29396979	CTCTACTA others(29): Show CTCTACTAAAAACACAAAAATTAGCCAGGCGTGGTGG	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA20905.hp2 HG03927.hp1 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0080 a0002c0003 a0002c0080	a0002c0003t0025 a0002c0080t0001 a0002c0003t0025 a0002c0080t0001	a0002c0003t0025g0136 a0002c0080t0001g0132 a0002c0003t0025g0136 a0002c0080t0001g0132	2	428	0.0047	-36	c.121 others(53): Show c.121-2939_121-2904delCCACCACGCCTGGCTAATTTTTGTGTTT TTAGTAGA	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	2/7			chr16	TogoVar
NPIPB2_chr16_11922373_11947045	11940568	CTCTACTA others(29): Show CTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp1 HG00642.hp2 others(69): Show HG00423.hp1 HG00639.hp1 HG00642.hp2 HG01123.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp2 HG02559.hp2 HG02615.hp2 HG02723.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG04115.hp1 HG04115.hp2 NA18906.hp2 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18948.hp1 NA18950.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18966.hp2 NA18968.hp1 NA18974.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18997.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19062.hp1 NA19066.hp2 NA19074.hp1 NA19079.hp2 NA19084.hp2 NA19088.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0002c0005 a0002c0028 others(2): Show a0002c0002 a0002c0005 a0002c0028 a0002c0029 a0010c0030	a0002c0002t0000 a0002c0005t0000 a0002c0028t0000 others(2): Show a0002c0002t0000 a0002c0005t0000 a0002c0028t0000 a0002c0029t0000 a0010c0030t0000	a0002c0002t0000g0007 a0002c0002t0000g0011 a0002c0002t0000g0012 others(54): Show a0002c0002t0000g0007 a0002c0002t0000g0011 a0002c0002t0000g0012 a0002c0002t0000g0013 a0002c0002t0000g0038 a0002c0002t0000g0039 a0002c0002t0000g0041 a0002c0002t0000g0254 a0002c0002t0000g0294 a0002c0002t0000g0295 a0002c0002t0000g0297 a0002c0002t0000g0299 a0002c0002t0000g0300 a0002c0002t0000g0301 a0002c0002t0000g0302 a0002c0002t0000g0303 a0002c0002t0000g0304 a0002c0002t0000g0305 a0002c0002t0000g0306 a0002c0002t0000g0307 a0002c0002t0000g0308 a0002c0002t0000g0309 a0002c0002t0000g0310 a0002c0002t0000g0311 a0002c0002t0000g0312 a0002c0002t0000g0314 a0002c0002t0000g0332 a0002c0002t0000g0333 a0002c0002t0000g0334 a0002c0002t0000g0335 a0002c0002t0000g0339 a0002c0002t0000g0340 a0002c0005t0000g0040 a0002c0005t0000g0042 a0002c0005t0000g0043 a0002c0005t0000g0316 a0002c0005t0000g0317 a0002c0005t0000g0318 a0002c0005t0000g0319 a0002c0005t0000g0320 a0002c0005t0000g0321 a0002c0005t0000g0322 a0002c0005t0000g0323 a0002c0005t0000g0324 a0002c0005t0000g0325 a0002c0005t0000g0326 a0002c0005t0000g0327 a0002c0005t0000g0328 a0002c0005t0000g0329 a0002c0005t0000g0330 a0002c0005t0000g0331 a0002c0005t0000g0336 a0002c0005t0000g0337 a0002c0005t0000g0338 a0002c0028t0000g0315 a0002c0029t0000g0298 a0010c0030t0000g0313	72	414	0.1739	-36	c.63+ others(51): Show c.63+1379_63+1414delCCACCACGCCTGGCTAATTTTTGTATTTTT AGTAGA	NPIPB2	ENSG00000234719.9	transcript	ENST00000399147.8	protein_coding	1/7			chr16	TogoVar
NPNT_chr4_105890471_105976671	105898408	ATGGGGAT others(29): Show ATGGGGATAAGATAATGAGTCTAGACCGTATTTACAC	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02083.hp2 NA19002.hp2 HG02080.hp2 HG02083.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0060 a0001c0001t0001g0079 a0001c0001t0012g0080 a0001c0001t0001g0060 a0001c0001t0001g0079 a0001c0001t0012g0080	3	236	0.0127	-36	c.172 others(51): Show c.172+444_172+479delTGGGGATAAGATAATGAGTCTAGACCGTAT TTACAC	NPNT	ENSG00000168743.13	transcript	ENST00000379987.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
NR0B1_chrX_30299206_30314390	30301304	GAGGGAGG others(29): Show GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	2	322	0.0062	-36	c.32 others(47): Show c.3239_*3274delTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CT	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding		2901		chrX	TogoVar
NR1H3_chr11_47252996_47274033	47255571	TTCTTTCT others(29): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	368	0.0027	-36	c.-25 others(47): Show c.-2595_-2560delTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTC TC	NR1H3	ENSG00000025434.19	transcript	ENST00000441012.7	protein_coding		2424		chr11	TogoVar
NR1H3_chr11_47252996_47274033	47255575	TTCTTTCT others(29): Show TTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 NA18960.hp2 NA18964.hp1 others(5): Show HG00438.hp1 NA18960.hp2 NA18964.hp1 NA18990.hp2 NA19065.hp2 NA19074.hp2 NA19082.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	8	368	0.0217	-36	c.-25 others(47): Show c.-2591_-2556delTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTC TC	NR1H3	ENSG00000025434.19	transcript	ENST00000441012.7	protein_coding		2420		chr11	TogoVar
NR1H4_chr12_100468866_100569414	100513801	AAAGGAAG others(29): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19074.hp1 NA18971.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0059 a0001c0001t0002g0060	2	308	0.0065	-36	c.445 others(53): Show c.445+2693_445+2728delGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAA	NR1H4	ENSG00000012504.15	transcript	ENST00000392986.8	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
NRAP_chr10_113583714_113669041	113647577	TGGTGGTA others(29): Show TGGTGGTACTTCCTCCCCTAGTGGTACTGTCTCCCCC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02135.hp1 NA18612.hp2 others(4): Show HG00597.hp1 HG02135.hp1 NA18612.hp2 NA18971.hp2 NA19000.hp2 NA19079.hp1 NA19090.hp1	a0022 a0031 a0069 a0022 a0031 a0069	a0022c0022 a0031c0025 a0069c0056 a0022c0022 a0031c0025 a0069c0056	a0022c0022t0001 a0022c0022t0012 a0031c0025t0002 others(1): Show a0022c0022t0001 a0022c0022t0012 a0031c0025t0002 a0069c0056t0001	a0022c0022t0001g0258 a0022c0022t0001g0259 a0022c0022t0001g0262 others(4): Show a0022c0022t0001g0258 a0022c0022t0001g0259 a0022c0022t0001g0262 a0022c0022t0012g0261 a0031c0025t0002g0257 a0031c0025t0002g0260 a0069c0056t0001g0245	7	398	0.0176	-36	c.889 others(51): Show c.889-586_889-551delGGGGGAGACAGTACCACTAGGGGAGGAAGT ACCACC	NRAP	ENSG00000197893.14	transcript	ENST00000359988.4	protein_coding	9/41			chr10	TogoVar
NRBP1_chr2_27423631_27447259	27427289	ATATATAT others(29): Show ATATATATATATATATATATATATTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA19043.hp1 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	276	0.0073	-36	c.-14 others(47): Show c.-1462_-1427delTATATATATATATATATATATATTTTTTTTTTTT TT	NRBP1	ENSG00000115216.14	transcript	ENST00000379852.8	protein_coding		1341		chr2	TogoVar
NRBP1_chr2_27423631_27447259	27427291	ATATATAT others(29): Show ATATATATATATATATATATATTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG03453.hp2 HG06807.hp2 HG02559.hp1 HG03453.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0009 a0001c0001t0001g0020	3	276	0.0109	-36	c.-14 others(47): Show c.-1460_-1425delTATATATATATATATATATATTTTTTTTTTTTTT TT	NRBP1	ENSG00000115216.14	transcript	ENST00000379852.8	protein_coding		1339		chr2	TogoVar
NRG1_chr8_32543311_32779046	32609552	CTCCTTCC others(29): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01515.hp1 HG01517.hp2 others(4): Show HG01175.hp2 HG01515.hp1 HG01517.hp2 HG02280.hp1 HG02723.hp1 HG03041.hp1 NA19240.hp2	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0007c0007 a0009c0009 a0001c0001 a0007c0007 a0009c0009	a0001c0001t0002 a0001c0001t0048 a0001c0001t0080 others(4): Show a0001c0001t0002 a0001c0001t0048 a0001c0001t0080 a0001c0001t0096 a0007c0007t0006 a0009c0009t0008 a0009c0009t0038	a0001c0001t0002g0243 a0001c0001t0048g0024 a0001c0001t0080g0050 others(4): Show a0001c0001t0002g0243 a0001c0001t0048g0024 a0001c0001t0080g0050 a0001c0001t0096g0187 a0007c0007t0006g0219 a0009c0009t0008g0046 a0009c0009t0038g0039	7	244	0.0287	-36	c.400 others(53): Show c.400+3903_400+3938delCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT	NRG1	ENSG00000157168.22	transcript	ENST00000405005.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
NRROS_chr3_196634694_196667004	196661934	GTAAAATA others(29): Show GTAAAATATTTATTAAGTGACTTTTTCAGAAATAAAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0373 a0001c0001t0009g0373	1	472	0.0021	-36	c.21 others(45): Show c.213_*248delTAAAATATTTATTAAGTGACTTTTTCAGAAATAAAA	NRROS	ENSG00000174004.6	transcript	ENST00000328557.5	protein_coding	3/3	213		chr3	TogoVar
NRXN1_chr2_49913503_51037132	50399789	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	116	0.0086	-36	c.336 others(57): Show c.3364+65617_3364+65652delTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN3_chr14_78165373_79873291	78190636	TTTATTTA others(29): Show TTTATTTATTTATTTATTTACTTACTTACTTACTTAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0024 a0001c0003t0009g0024	1	24	0.0417	-36	c.-70 others(57): Show c.-704+19966_-704+20001delTTTATTTATTTATTTACTTACTTA CTTACTTAATTA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	78943615	AAAAAAAA others(29): Show AAAAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0017 a0001c0006t0017	a0001c0006t0017g0001 a0001c0006t0017g0001	1	24	0.0417	-36	c.227 others(57): Show c.2276-13625_2276-13590delAAAAAATATATATATATATATATA TATATATATATA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	78943617	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0012 a0001c0010t0001g0012	1	24	0.0417	-36	c.227 others(57): Show c.2276-13623_2276-13588delAAAATATATATATATATATATATA TATATATATATA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79473787	TAGGAGTT others(29): Show TAGGAGTTTTTCCAGATCATTAGCCACTTATACGGAG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp1 HG02257.hp1 others(3): Show HG01081.hp1 HG01243.hp1 HG02257.hp1 HG03225.hp2 NA19043.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0002c0005	a0001c0001t0010 a0001c0003t0004 a0001c0004t0005 others(3): Show a0001c0001t0010 a0001c0003t0004 a0001c0004t0005 a0001c0007t0002 a0001c0008t0004 a0002c0005t0005	a0001c0001t0010g0006 a0001c0003t0004g0015 a0001c0004t0005g0003 others(3): Show a0001c0001t0010g0006 a0001c0003t0004g0015 a0001c0004t0005g0003 a0001c0007t0002g0010 a0001c0008t0004g0014 a0002c0005t0005g0002	6	24	0.2500	-36	c.344 others(55): Show c.3444+6390_3444+6425delGTTTTTCCAGATCATTAGCCACTTAT ACGGAGAGGA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79845688	CGGAGACG others(29): Show CGGAGACGGGGAGAGAGACGGAGACGGGGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG01884.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0009 a0001c0007t0002 a0001c0003t0009 a0001c0007t0002	a0001c0003t0009g0024 a0001c0007t0002g0010 a0001c0003t0009g0024 a0001c0007t0002g0010	2	24	0.0833	-36	c.409 others(57): Show c.4094-15636_4094-15601delCGGAGACGGGGAGAGAGAGGGAGA CGGGGAGAGAGA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSD2_chr4_1866393_1987192	1951443	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02809.hp2 NA18949.hp1 HG02257.hp1 HG02809.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0012 a0001c0002t0021 a0001c0001t0001 a0001c0001t0012 a0001c0002t0021	a0001c0001t0001g0050 a0001c0001t0012g0011 a0001c0002t0021g0035 a0001c0001t0001g0050 a0001c0001t0012g0011 a0001c0002t0021g0035	3	130	0.0231	-36	c.201 others(53): Show c.2013+286_2013+321delCACACACACACACACACACACACACACA CACACACA	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSG1_chr4_4382102_4424058	4385308	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGTTTGCGCGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG03130.hp1 HG03516.hp1 others(7): Show HG02145.hp2 HG03130.hp1 HG03516.hp1 NA18906.hp2 NA18966.hp2 NA18985.hp1 NA18991.hp1 NA19043.hp1 NA19084.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0058 a0001c0001t0002g0059 a0001c0001t0004g0056 others(5): Show a0001c0001t0001g0058 a0001c0001t0002g0059 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0006g0174 a0001c0001t0007g0013 a0001c0001t0007g0060 a0001c0001t0007g0061	10	394	0.0254	-36	c.-18 others(47): Show c.-1891_-1856delGTGTGTGTGTGTGTGTGTGTGTGTTTGCGCGCGC GC	NSG1	ENSG00000168824.15	transcript	ENST00000621129.5	protein_coding		1793		chr4	TogoVar
NSMCE1_chr16_27219994_27273772	27251173	TATATATA others(29): Show TATATATATATATATATAAATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	334	0.0030	-36	c.136 others(53): Show c.136+6226_136+6261delTTATATATATATATATATTTATATATAT ATATATAT	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	2/7			chr16	TogoVar
NT5DC4_chr2_112716020_112744095	112719888	TCCTTTCT others(29): Show TCCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0074 a0004c0009t0001g0074	1	364	0.0028	-36	c.-11 others(47): Show c.-1191_-1156delCCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTT TC	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding		1131		chr2	TogoVar
NTHL1_chr16_2034820_2052834	2042851	CCCCCCAT others(29): Show CCCCCCATCCTCCCAGCGCCTCCCTCCCCACCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02970.hp1 HG03486.hp1 HG02723.hp2 HG02970.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	3	392	0.0077	-36	c.685 others(51): Show c.685+680_685+715delAGGAGGGTGGGGAGGGAGGCGCTGGGAGGA TGGGGG	NTHL1	ENSG00000065057.9	transcript	ENST00000651570.2	protein_coding	4/5			chr16	TogoVar
NTHL1_chr16_2034820_2052834	2042861	TCCCAGCG others(29): Show TCCCAGCGCCTCCCTCCCCACCCTCCTCCCCCATTCC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	392	0.0026	-36	c.685 others(51): Show c.685+670_685+705delGGAATGGGGGAGGAGGGTGGGGAGGGAGGC GCTGGG	NTHL1	ENSG00000065057.9	transcript	ENST00000651570.2	protein_coding	4/5			chr16	TogoVar
NTM_chr11_131365615_132341822	131401799	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	86	0.0116	-36	c.82+ others(53): Show c.82+30938_82+30973delATATATATATATATATATATATATATAT ATATATAT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131789475	GAAGAAGA others(29): Show GAAGAAGAAGAAGAAGAGGAAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	86	0.0116	-36	c.83- others(55): Show c.83-122088_83-122053delAAGAAGAAGAAGAAGAGGAAAGAAGA AGAAGAAGAA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8			chr11	TogoVar
NTM_chr11_131365615_132341822	131789478	GAAGAAGA others(29): Show GAAGAAGAAGAAGAGGAAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	86	0.0116	-36	c.83- others(55): Show c.83-122085_83-122050delAAGAAGAAGAAGAGGAAAGAAGAAGA AGAAGAAGAA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8			chr11	TogoVar
NTM_chr11_131365615_132341822	132134705	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	86	0.0116	-36	c.168 others(55): Show c.168-11557_168-11522delATATATATATATATATATATATATAT ATATATATAT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN5_chr19_48656407_48678017	48664416	GGAGTCCA others(29): Show GGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGGCCCA	G G	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18954.hp1 NA18990.hp2 NA18747.hp1 NA18954.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0091 a0001c0002t0002g0119 a0001c0002t0002g0121 a0001c0001t0001g0091 a0001c0002t0002g0119 a0001c0002t0002g0121	3	412	0.0073	-36	c.820 others(51): Show c.820+127_821-125delTGGGCCTGAGGGAGGAGGGGCTGGGGGCCT GGACTC	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	3/6			chr19	TogoVar
NTNG2_chr9_132157058_132249526	132185821	AGGGAGGA others(29): Show AGGGAGGAGGAGGAGGAGTGGGAGGAGGAGGAGGAGT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0258 a0001c0002t0001g0258	1	358	0.0028	-36	c.214 others(55): Show c.214-12109_214-12074delTGGGAGGAGGAGGAGGAGTGGGAGGA GGAGGAGGAG	NTNG2	ENSG00000196358.12	transcript	ENST00000393229.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84926149	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	170	0.0059	-36	c.163 others(55): Show c.1634-8009_1634-7974delCCTTCCTTCCTTCCTTCCTTTCTTTC TTTCTTTCTT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTSR1_chr20_62703836_62767771	62767601	GAAAGAAG others(29): Show GAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02976.hp2 HG03516.hp2 HG02280.hp2 HG02976.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0049 a0001c0001t0019 a0001c0001t0049	a0001c0001t0019g0222 a0001c0001t0019g0298 a0001c0001t0049g0052 a0001c0001t0019g0222 a0001c0001t0019g0298 a0001c0001t0049g0052	3	316	0.0095	-36	c.73 others(47): Show c.7335_*7370delAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GA	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding		4831		chr20	TogoVar
NTSR1_chr20_62703836_62767771	62767654	AAGAAAGA others(29): Show AAGAAAGAAAGAAGGTTGAAGGAAGGAAGGAAGGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	316	0.0032	-36	c.73 others(47): Show c.7388_*7423delAGAAAGAAAGAAGGTTGAAGGAAGGAAGGAAGGA AG	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding		4884		chr20	TogoVar
NTSR1_chr20_62703836_62767771	62767670	TGAAGGAA others(29): Show TGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02132.hp1 HG02615.hp1 others(1): Show HG02071.hp1 HG02132.hp1 HG02615.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0008t0025 a0001c0001t0001 a0001c0001t0003 a0001c0008t0025	a0001c0001t0001g0086 a0001c0001t0003g0092 a0001c0001t0003g0120 others(1): Show a0001c0001t0001g0086 a0001c0001t0003g0092 a0001c0001t0003g0120 a0001c0008t0025g0152	4	316	0.0127	-36	c.74 others(47): Show c.7404_*7439delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AG	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding		4900		chr20	TogoVar
NUBP1_chr16_10738842_10774351	10764693	ATTGGAGC others(29): Show ATTGGAGCATCTCAGTCTGCTGGAGTATGTCAGTCTG	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	424	0.0024	-36	c.820 others(53): Show c.820+2954_820+2989delCAGTCTGCTGGAGTATGTCAGTCTGTTG GAGCATCT	NUBP1	ENSG00000103274.11	transcript	ENST00000283027.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr16	TogoVar

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Search Results (Total: 3870 hits)