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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
GNG7_chr19_2506219_2707694	2639734	A A	AGAATGAG others(20): Show AGAATGAGGGAGGGGAGGGGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0130 a0001c0001t0084g0130	1	206	0.0049	27	c.-78 others(44): Show c.-78+6489_-78+6490insCTTCCTCCCCCCTCCCCTCCCTCATTC	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4			chr19	TogoVar
GNG7_chr19_2506219_2707694	2649390	A A	AATTATTA others(20): Show AATTATTATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00642.hp2 others(18): Show HG00423.hp1 HG00609.hp1 HG00642.hp2 HG00735.hp1 HG01070.hp1 HG01168.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG02559.hp2 HG02965.hp2 HG06807.hp2 NA18612.hp1 NA19011.hp1 NA19012.hp1 NA19068.hp2 NA19079.hp2 NA19082.hp2 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0027 a0001c0001t0051	a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0084 others(18): Show a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0150 a0001c0001t0002g0103 a0001c0001t0002g0153 a0001c0001t0004g0071 a0001c0001t0005g0032 a0001c0001t0005g0109 a0001c0001t0007g0100 a0001c0001t0008g0030 a0001c0001t0010g0106 a0001c0001t0010g0107 a0001c0001t0012g0133 a0001c0001t0014g0027 a0001c0001t0015g0079 a0001c0001t0015g0168 a0001c0001t0015g0169 a0001c0001t0016g0085 a0001c0001t0027g0177 a0001c0001t0051g0011	21	206	0.1019	27	c.-13 others(46): Show c.-134-3111_-134-3110insAATAATAATAATAATAATAATAATAA T	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	1/4			chr19	TogoVar
GNG7_chr19_2506219_2707694	2657337	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0128 a0001c0001t0019g0128	1	206	0.0049	27	c.-13 others(48): Show c.-134-11058_-134-11057insTTTTTTTTTTTTTTTTTTTTTTTT TTT	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	1/4			chr19	TogoVar
GNL3L_chrX_54525219_54572289	54530148	G G	GCCCGCCC others(20): Show GCCCGCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	277	0.0036	27	c.-31 others(36): Show c.-319_-318insCCCGCCCCCCCCCCCCCCCCCCCCCCC	GNL3L	ENSG00000130119.17	transcript	ENST00000360845.3	protein_coding		70		chrX	TogoVar
GNPTAB_chr12_101740499_101835959	101824433	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18961.hp2 NA18983.hp1 others(1): Show NA18947.hp1 NA18961.hp2 NA18983.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0003 a0001c0001t0004 a0001c0003t0003	a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0252 others(1): Show a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0252 a0001c0003t0003g0143	4	392	0.0102	27	c.117 others(44): Show c.117+6125_117+6126insTATATATATATATATATATATATATAT	GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding	1/20			chr12	TogoVar
GNPTAB_chr12_101740499_101835959	101833178	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0256 a0001c0001t0004g0256	1	392	0.0026	27	c.-25 others(38): Show c.-2504_-2503insATATATATATATATATATATATATATA	GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding		2220		chr12	TogoVar
GNPTAB_chr12_101740499_101835959	101833182	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0004 a0001c0024t0004	a0001c0024t0004g0269 a0001c0024t0004g0269	1	392	0.0026	27	c.-25 others(38): Show c.-2508_-2507insATATATATATATATATATATATATTTT	GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding		2224		chr12	TogoVar
GOLGA6L6_chr15_20526856_20546800	20537053	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0064 a0001c0001t0004g0064	1	214	0.0047	27	c.544 others(42): Show c.544-182_544-181insGAAAGAAAGAAAGAAAGAAAGAAAGAA	GOLGA6L6	ENSG00000277322.1	transcript	ENST00000619213.1	protein_coding	5/8			chr15	TogoVar
GOLGA8O_chr15_32436914_32460634	32460205	A A	AAATCCAA others(20): Show AAATCCAATTAACAGACACTTCCAAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0139 a0002c0002t0027g0139	1	214	0.0047	27	c.-46 others(38): Show c.-4670_-4669insCATTTGGAAGTGTCTGTTAATTGGATT	GOLGA8O	ENSG00000206127.11	transcript	ENST00000509311.7	protein_coding		4572		chr15	TogoVar
GOSR2_chr17_46918160_46947020	46934197	A A	ACTTCCAG others(20): Show ACTTCCAGCTGTGTGATCACTGGACATG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02717.hp1 others(10): Show HG01069.hp1 HG01071.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0019 a0001c0001t0020 others(2): Show a0001c0001t0009 a0001c0001t0019 a0001c0001t0020 a0001c0001t0036 a0001c0001t0037	a0001c0001t0009g0014 a0001c0001t0009g0086 a0001c0001t0009g0088 others(5): Show a0001c0001t0009g0014 a0001c0001t0009g0086 a0001c0001t0009g0088 a0001c0001t0019g0033 a0001c0001t0020g0081 a0001c0001t0020g0083 a0001c0001t0036g0087 a0001c0001t0037g0082	13	412	0.0316	27	c.337 others(42): Show c.337-815_337-814insACTGGACATGCTTCCAGCTGTGTGATC	GOSR2	ENSG00000108433.17	transcript	ENST00000640051.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
GPA33_chr1_167047836_167095377	167087932	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0070	1	370	0.0027	27	c.43+ others(42): Show c.43+2312_43+2313insGTGTGTGTGTGTGTGTGTGTGTGTGTG	GPA33	ENSG00000143167.12	transcript	ENST00000367868.4	protein_coding	1/6			chr1	TogoVar
GPAT3_chr4_83531108_83610875	83549711	T T	TTTATTAT others(20): Show TTTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03195.hp1 HG02723.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0229 a0001c0001t0002g0230	2	334	0.0060	27	c.208 others(44): Show c.208+5126_208+5127insATTATTATTATTATTATTATTATTATT	GPAT3	ENSG00000138678.11	transcript	ENST00000264409.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GPAT3_chr4_83531108_83610875	83578948	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01169.hp1 NA18972.hp2 NA19062.hp2 HG01169.hp1 NA18972.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0108 a0001c0001t0001g0160 a0001c0001t0001g0072 a0001c0001t0001g0108 a0001c0001t0001g0160	3	334	0.0090	27	c.209 others(44): Show c.209-2612_209-2611insCTTTCTTTCTTTCTTTCTTTCTTTCTT	GPAT3	ENSG00000138678.11	transcript	ENST00000264409.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GPAT4_chr8_41573200_41630001	41574454	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	410	0.0024	27	c.-46 others(38): Show c.-4673_-4672insTTTTTTTTTTTTTTTTTTTTTTTTTTT	GPAT4	ENSG00000158669.11	transcript	ENST00000396987.7	protein_coding		3745		chr8	TogoVar
GPATCH2_chr1_217421992_217636090	217584344	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0090 a0001c0001t0026g0090	1	188	0.0053	27	c.109 others(48): Show c.1098+25976_1098+25977insATATATATATATATTTTTTTTTTT TTT	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GPATCH8_chr17_44390281_44508406	44483176	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	326	0.0031	27	c.46- others(42): Show c.46-8274_46-8273insATATTTTTTTTTTTTTTTTTTTTTTTT	GPATCH8	ENSG00000186566.13	transcript	ENST00000591680.6	protein_coding	1/7			chr17	TogoVar
GPATCH8_chr17_44390281_44508406	44483176	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0212 a0001c0002t0001g0212	1	326	0.0031	27	c.46- others(42): Show c.46-8274_46-8273insATATATATATATATTTTTTTTTTTTTT	GPATCH8	ENSG00000186566.13	transcript	ENST00000591680.6	protein_coding	1/7			chr17	TogoVar
GPATCH8_chr17_44390281_44508406	44483176	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0200 a0004c0015t0001g0200	1	326	0.0031	27	c.46- others(42): Show c.46-8274_46-8273insATATATATATATATATTTTTTTTTTTT	GPATCH8	ENSG00000186566.13	transcript	ENST00000591680.6	protein_coding	1/7			chr17	TogoVar
GPATCH8_chr17_44390281_44508406	44483176	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	326	0.0031	27	c.46- others(42): Show c.46-8274_46-8273insATATATATATATATATATTTTTTTTTT	GPATCH8	ENSG00000186566.13	transcript	ENST00000591680.6	protein_coding	1/7			chr17	TogoVar
GPBP1L1_chr1_45622304_45691533	45663050	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0106 a0001c0005t0010g0106	1	292	0.0034	27	c.-10 others(48): Show c.-1097-1826_-1097-1825insTTTTTTTTTTTTTTTTTTTTTTTT TTT	GPBP1L1	ENSG00000159592.11	transcript	ENST00000355105.8	protein_coding	2/12			chr1	TogoVar
GPC5_chr13_91393621_92872237	91636420	G G	GTGTGCAG others(20): Show GTGTGCAGTGTGTGTGTATATACACGTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	42	0.0238	27	c.326 others(46): Show c.326-56749_326-56748insATACACGTTTGTGCAGTGTGTGTGTA T	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92692754	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	42	0.0238	27	c.156 others(50): Show c.1562-173506_1562-173505insTTTTTTTTTTTTTTTTTTTTTT TTTTT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93389569	T T	TATGTATG others(20): Show TATGTATGTATATATGTATACACACAGA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA21309.hp1 NA19091.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0016 a0002c0002t0003 a0001c0001t0016 a0002c0002t0003	a0001c0001t0016g0035 a0002c0002t0003g0011 a0001c0001t0016g0035 a0002c0002t0003g0011	2	76	0.0263	27	c.161 others(48): Show c.161-155653_161-155627dupTGTATACACACAGAATGTATGTAT ATA	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93441277	T T	TCCACAAT others(20): Show TCCACAATGGTTGAACTAGTTTACAGTC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0007 a0001c0001t0029g0007	1	76	0.0132	27	c.161 others(48): Show c.161-103981_161-103955dupAATGGTTGAACTAGTTTACAGTCC CAC	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	94309711	T T	TCATCTGA others(20): Show TCATCTGAGTCTATCGCAGTCCCTACCG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01074.hp2 others(7): Show HG00558.hp1 HG00558.hp2 HG01074.hp2 HG01496.hp1 HG01975.hp2 HG02922.hp1 HG03486.hp1 NA19012.hp2 NA19091.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0012 a0001c0001t0029 others(5): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0029 a0001c0003t0003 a0002c0002t0002 a0002c0002t0003 a0002c0002t0014 a0002c0002t0028	a0001c0001t0001g0029 a0001c0001t0001g0069 a0001c0001t0012g0003 others(7): Show a0001c0001t0001g0029 a0001c0001t0001g0069 a0001c0001t0012g0003 a0001c0001t0029g0007 a0001c0003t0003g0063 a0002c0002t0002g0045 a0002c0002t0002g0049 a0002c0002t0003g0011 a0002c0002t0014g0022 a0002c0002t0028g0004	10	76	0.1316	27	c.115 others(46): Show c.1152+3590_1152+3616dupATCTGAGTCTATCGCAGTCCCTACCG C	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPCPD1_chr20_5539439_5616006	5615204	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0373 a0002c0002t0006g0373	1	386	0.0026	27	c.-43 others(38): Show c.-4392_-4391insATATATATATATTTTTTTTTTTTTTTT	GPCPD1	ENSG00000125772.14	transcript	ENST00000379019.7	protein_coding		4199		chr20	TogoVar
GPHN_chr14_66503147_67186803	67070715	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0118 a0001c0001t0006g0118	1	234	0.0043	27	c.114 others(48): Show c.1144+11930_1144+11931insAAAAAAAAAAAAATATATATATAT ATA	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	67070715	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	234	0.0043	27	c.114 others(48): Show c.1144+11930_1144+11931insAAAAAAAAATATATATATATATAT ATA	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	67070715	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02074.hp2 HG01255.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0226 a0001c0001t0001g0181 a0001c0001t0001g0226	2	234	0.0086	27	c.114 others(48): Show c.1144+11930_1144+11931insAAAAAAATATATATATATATATAT ATA	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	67070715	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	234	0.0043	27	c.114 others(48): Show c.1144+11930_1144+11931insAAAAATATATATATATATATATAT ATA	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPIHBP1_chr8_143208218_143222170	143210130	A A	AGGTCTGG others(20): Show AGGTCTGGATCTGACTCGAGCTGGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0016 a0001c0001t0009g0016	1	106	0.0094	27	c.-31 others(38): Show c.-3138_-3137insGGTCTGGATCTGACTCGAGCTGGTGTC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		3087		chr8	TogoVar
GPLD1_chr6_24420832_24494578	24435824	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0174 a0001c0004t0012g0174	1	358	0.0028	27	c.235 others(44): Show c.2358+751_2358+752insTTTTTTTTTTTTTTTTTTTTTTTTTTT	GPLD1	ENSG00000112293.15	transcript	ENST00000230036.2	protein_coding	22/24			chr6	TogoVar
GPM6A_chr4_175627937_175817264	175668542	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp2 NA19006.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0150 a0001c0001t0002g0156 a0001c0001t0001g0150 a0001c0001t0002g0156	2	270	0.0074	27	c.387 others(44): Show c.387+5137_387+5138insCACACACACACACACACACACACACAC	GPM6A	ENSG00000150625.17	transcript	ENST00000393658.7	protein_coding	3/6			chr4	TogoVar
GPN2_chr1_26871132_26895283	26873745	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	258	0.0039	27	c.59 others(38): Show c.5931_*5932insAAAAAAAAAAAAAAAAAAAAAAAAAAA	GPN2	ENSG00000142751.15	transcript	ENST00000374135.9	protein_coding		2386		chr1	TogoVar
GPN3_chr12_110447486_110473257	110450831	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG02056.hp1 HG02056.hp2 HG00597.hp1 HG02056.hp1 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0198 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0198	3	324	0.0093	27	c.22 others(38): Show c.2202_*2203insTTTTTTTTTTTTTTTTTTTTTTTTTTT	GPN3	ENSG00000111231.9	transcript	ENST00000228827.8	protein_coding		1654		chr12	TogoVar
GPR146_chr7_1039546_1064261	1041375	C C	CGGGGAAG others(20): Show CGGGGAAGGGGACCTGGGGTCCGCACTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	434	0.0023	27	c.-33 others(38): Show c.-3308_-3307insGGGGAAGGGGACCTGGGGTCCGCACTG	GPR146	ENSG00000164849.10	transcript	ENST00000444847.2	protein_coding		3170		chr7	TogoVar
GPR150_chr5_95615087_95627142	95616517	T T	TTCCTATG others(20): Show TTCCTATGTAATTACCTATGTAACATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	448	0.0022	27	c.-37 others(38): Show c.-3759_-3758insTCCTATGTAATTACCTATGTAACATTA	GPR150	ENSG00000178015.5	transcript	ENST00000380007.3	protein_coding		3569		chr5	TogoVar
GPR18_chr13_99249739_99263379	99260797	T T	TTCACGGT others(20): Show TTCACGGTGAATGTTTGCAATATGCAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	428	0.0023	27	c.-26 others(38): Show c.-2679_-2678insTCTGCATATTGCAAACATTCACCGTGA	GPR18	ENSG00000125245.14	transcript	ENST00000397470.5	protein_coding		2419		chr13	TogoVar
GPR19_chr12_12655890_12701183	12657326	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	412	0.0024	27	c.38 others(38): Show c.3874_*3875insCTTTCTTTCTTTCTTTCTTTCTTTCTT	GPR19	ENSG00000183150.8	transcript	ENST00000651487.1	protein_coding		3563		chr12	TogoVar
GPR22_chr7_107465057_107480684	107476183	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 NA18985.hp1 HG00408.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	412	0.0049	27	c.82 others(36): Show c.821_*822insAAAAAAAAAAAAAAAAAAAAAAAAAAA	GPR22	ENSG00000172209.6	transcript	ENST00000304402.6	protein_coding		500		chr7	TogoVar
GPR3_chr1_27387622_27400814	27389216	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02523.hp2 HG03831.hp2 others(2): Show HG02074.hp1 HG02523.hp2 HG03831.hp2 HG03834.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	5	356	0.0140	27	c.-35 others(38): Show c.-3527_-3526insAAAAAAAAAAAAAAAAAAAAAAAAAAA	GPR3	ENSG00000181773.7	transcript	ENST00000374024.4	protein_coding		3405		chr1	TogoVar
GPR42_chr19_35366068_35377962	35375511	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	399	0.0025	27	c.31 others(38): Show c.3111_*3112insAAGAAAGAAAGAAAGAAAGAAAGAAAG	GPR42	ENSG00000126251.7	transcript	ENST00000454971.3	protein_coding		2550		chr19	TogoVar
GPR4_chr19_45584764_45607212	45594078	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02615.hp1 HG03927.hp1 others(2): Show HG00673.hp1 HG02615.hp1 HG03927.hp1 NA18950.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0134 a0001c0002t0002g0202 a0001c0002t0002g0204 others(2): Show a0001c0001t0002g0134 a0001c0002t0002g0202 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0324	5	450	0.0111	27	c.-83 others(46): Show c.-831-1382_-831-1381insAAATATATATATATATATATATATAT A	GPR4	ENSG00000177464.5	transcript	ENST00000323040.5	protein_coding	1/1			chr19	TogoVar
GPR87_chr3_151289086_151321820	151299400	C C	CTTTTCTT others(20): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	446	0.0022	27	c.34+ others(40): Show c.34+666_34+667insAAGAAAAGAAAAGAAAAGAAAAGAAAA	GPR87	ENSG00000138271.6	transcript	ENST00000260843.5	protein_coding	2/2			chr3	TogoVar
GPRC6A_chr6_116787085_116834083	116818532	T T	TCAAAAAA others(20): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03225.hp1 HG03516.hp1 HG02145.hp2 HG03225.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0235 a0001c0008t0001g0233 a0001c0008t0001g0234 a0001c0001t0001g0235 a0001c0008t0001g0233 a0001c0008t0001g0234	3	368	0.0082	27	c.195 others(44): Show c.195-8916_195-8915insTTTTTTTTTTTTTTTTTTTTTTTTTTG	GPRC6A	ENSG00000173612.10	transcript	ENST00000310357.8	protein_coding	1/5			chr6	TogoVar
GRAMD1B_chr11_123425269_123632767	123449714	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01168.hp1 others(2): Show HG00735.hp2 HG00741.hp2 HG01168.hp1 HG01515.hp1 HG02083.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0015 a0008c0017 a0001c0001 a0001c0015 a0008c0017	a0001c0001t0001 a0001c0001t0012 a0001c0001t0072 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0072 a0001c0015t0007 a0008c0017t0001	a0001c0001t0001g0164 a0001c0001t0012g0066 a0001c0001t0072g0203 others(2): Show a0001c0001t0001g0164 a0001c0001t0012g0066 a0001c0001t0072g0203 a0001c0015t0007g0125 a0008c0017t0001g0216	5	282	0.0177	27	c.374 others(46): Show c.374+18565_374+18566insTTTTTTTTTTTTTTTTTTTTTTTTTT T	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123513617	C C	CCTTCTTT others(20): Show CCTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0055 a0001c0001t0016g0055	1	282	0.0036	27	c.452 others(46): Show c.452+32727_452+32728insCTTTCTTTCTTTCTTTCTTTCTTTCT T	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD1C_chr3_113833788_113952174	113900409	A A	AATTATTA others(20): Show AATTATTATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0025 a0002c0006t0025	a0002c0006t0025g0130 a0002c0006t0025g0130	1	324	0.0031	27	c.541 others(42): Show c.541-621_541-595dupATTATTATTATTATTATTATTATTATT	GRAMD1C	ENSG00000178075.20	transcript	ENST00000358160.9	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRB10_chr7_50585068_50787896	50775161	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	278	0.0036	27	c.-21 others(46): Show c.-217+5465_-217+5466insTTTTTTTTTTTTTTTTTTTTTTTTTT T	GRB10	ENSG00000106070.20	transcript	ENST00000401949.6	protein_coding	2/18			chr7	TogoVar
GREB1_chr2_11529045_11647788	11539037	T T	TCTTCTCC others(20): Show TCTTCTCCTCCTTTCTCCCTTCTCCTCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG02486.hp1 others(2): Show HG01109.hp2 HG02145.hp2 HG02486.hp1 HG03540.hp1 NA19240.hp2	a0002 a0007 a0008 others(2): Show a0002 a0007 a0008 a0013 a0035	a0002c0057 a0007c0016 a0008c0006 others(2): Show a0002c0057 a0007c0016 a0008c0006 a0013c0018 a0035c0042	a0002c0057t0059 a0007c0016t0015 a0008c0006t0054 others(2): Show a0002c0057t0059 a0007c0016t0015 a0008c0006t0054 a0013c0018t0003 a0035c0042t0029	a0002c0057t0059g0021 a0007c0016t0015g0017 a0008c0006t0054g0018 others(2): Show a0002c0057t0059g0021 a0007c0016t0015g0017 a0008c0006t0054g0018 a0013c0018t0003g0019 a0035c0042t0029g0020	5	308	0.0162	27	c.-16 others(46): Show c.-162+4789_-162+4790insCTCCTTTCTCCCTTCTCCTCCCTTCT C	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results (Total: 7463 hits)