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
SERINC2_chr1_31408213_31439678	31414421	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0363 a0002c0002t0001g0363	1	376	0.0027	27	c.39+ others(42): Show c.39+1117_39+1118insGTGTGTGTGTGTGTGTGTGTGTGTGTG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	1/9			chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431840	A A	ATAGGGTG others(20): Show ATAGGGTGGTTAGGGTGGTTAGGGTGGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0071 a0001c0001t0011g0071	1	376	0.0027	27	c.101 others(46): Show c.1014-1119_1014-1118insTTAGGGTGGTTAGGGTGGTTAGGGTG G	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431868	T T	TAGGATGG others(20): Show TAGGATGGTTAGGGTGGACAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0088 a0001c0003t0002g0088	1	376	0.0027	27	c.101 others(46): Show c.1014-1096_1014-1095insATGGTTAGGGTGGACAGGGTGGACAG G	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431895	T T	TAGGGTGG others(20): Show TAGGGTGGTTAGGGTGGTTAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0013	1	376	0.0027	27	c.101 others(46): Show c.1014-1065_1014-1064insTTAGGGTGGTTAGGGTGGACAGGGTG G	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431958	T T	TAGGGTGG others(20): Show TAGGGTGGATAGGGTGGAGAGGGTGGAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	376	0.0027	27	c.101 others(44): Show c.1014-992_1014-991insGAGGGTGGAGAGGGTGGATAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432138	C C	CAGGGTGG others(20): Show CAGGGTGGACAGGGTGGTTAGGGTGGTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0109 a0001c0003t0002g0109	1	376	0.0027	27	c.101 others(44): Show c.1014-813_1014-812insTTAGGGTGGTTAGGGTGGACAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432165	T T	TAGGGTGG others(20): Show TAGGGTGGATAGGGTGGATAGGATGGTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0350 a0002c0002t0001g0350	1	376	0.0027	27	c.101 others(44): Show c.1014-781_1014-780insATGGTCAGGGTGGATAGGGTGGATAGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432174	T T	TAGGGTGG others(20): Show TAGGGTGGATAGGATGGTCAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA20905.hp1 NA18962.hp2 NA20905.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0195 a0001c0004t0003g0197 a0001c0004t0003g0195 a0001c0004t0003g0197	2	376	0.0053	27	c.101 others(44): Show c.1014-781_1014-780insATGGTCAGGGTGGACAGGGTGGATAGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432174	T T	TAGGGTGG others(20): Show TAGGGTGGATAGGGTGGATAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0088 a0001c0003t0002g0088	1	376	0.0027	27	c.101 others(44): Show c.1014-777_1014-776insATAGGGTGGACAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432174	T T	TAGGGTGG others(20): Show TAGGGTGGTTAGGGTGGATAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0181 a0001c0004t0003g0181	1	376	0.0027	27	c.101 others(44): Show c.1014-786_1014-785insTTAGGGTGGATAGGGTGGACAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432183	T T	TAGGGTGG others(20): Show TAGGGTGGTTAGGGTGGACAGGGTGGAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0135 a0001c0001t0004g0135	1	376	0.0027	27	c.101 others(44): Show c.1014-773_1014-772insGGTGGACAGGGTGGAGAGGGTGGTTAG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432192	T T	TAGGGTGG others(20): Show TAGGGTGGTTAGGGTGGAGAGGGTGGAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0283 a0002c0002t0001g0283	1	376	0.0027	27	c.101 others(44): Show c.1014-773_1014-772insGGTGGTTAGGGTGGAGAGGGTGGAGAG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC5_chr5_80133727_80261048	80139594	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG03453.hp1 HG01167.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0047 a0001c0001t0033 a0001c0001t0047	a0001c0001t0033g0060 a0001c0001t0047g0261 a0001c0001t0033g0060 a0001c0001t0047g0261	2	286	0.0070	27	c.40 others(38): Show c.4068_*4069insCTCTCTCTCTCTCTCTCTCTCTCTCTC	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	12/12	4068		chr5	TogoVar
SERPINB12_chr18_63537369_63574329	63559039	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	402	0.0025	27	c.304 others(42): Show c.304-519_304-518insTTCTTTCTTCTTTCTTTCTTTCTTTCT	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINE1_chr7_101122104_101144247	101138430	T T	TCGCGCCC others(20): Show TCGCGCCCCCCGCGCCCCCCGCGCCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG03209.hp2 NA19240.hp2 HG02109.hp2 HG03209.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0033 a0001c0001t0010g0160 a0001c0001t0010g0166 a0001c0001t0010g0033 a0001c0001t0010g0160 a0001c0001t0010g0166	3	436	0.0069	27	c.10 others(38): Show c.1005_*1006insCCGCGCCCCCCGCGCCCCCCGCGCCCC	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding	9/9	1006	INFO_REALIGN_3_PRIME	chr7	TogoVar
SETBP1_chr18_44675888_45073510	44885842	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0018 a0003c0003t0018	a0003c0003t0018g0011 a0003c0003t0018g0011	1	140	0.0071	27	c.540 others(46): Show c.540+16573_540+16574insAAAAAAAAAAAAAAAAAAAAAAAAAA A	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02056.hp2 HG02145.hp2 others(1): Show HG01496.hp2 HG02056.hp2 HG02145.hp2 NA19006.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0001c0001t0006 a0004c0009t0001 a0001c0001t0001 a0001c0001t0006 a0004c0009t0001	a0001c0001t0001g0127 a0001c0001t0001g0135 a0001c0001t0006g0083 others(1): Show a0001c0001t0001g0127 a0001c0001t0001g0135 a0001c0001t0006g0083 a0004c0009t0001g0046	4	290	0.0138	27	c.676 others(44): Show c.676-9655_676-9654insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETD5_chr3_9392615_9483154	9425055	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0233 a0001c0001t0012g0233	1	240	0.0042	27	c.-11 others(44): Show c.-117+552_-117+553insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETD5_chr3_9392615_9483154	9445965	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0016 a0003c0005t0016	a0003c0005t0016g0202 a0003c0005t0016g0202	1	240	0.0042	27	c.152 others(44): Show c.1524+248_1524+249insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETDB2_chr13_49439274_49500003	49441226	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0227 a0001c0002t0020g0227	1	406	0.0025	27	c.-39 others(38): Show c.-3973_-3972insATATATATATATATATATATATATATA	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding		3047		chr13	TogoVar
SEZ6L_chr22_26164462_26388596	26211804	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0004 a0001c0008t0002g0004	1	240	0.0042	27	c.94+ others(44): Show c.94+42066_94+42067insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26369341	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02723.hp1 NA18982.hp2 HG02622.hp2 HG02723.hp1 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0005 a0001c0003 a0002c0002 a0002c0005	a0001c0003t0004 a0002c0002t0009 a0002c0005t0005 a0001c0003t0004 a0002c0002t0009 a0002c0005t0005	a0001c0003t0004g0197 a0002c0002t0009g0099 a0002c0005t0005g0206 a0001c0003t0004g0197 a0002c0002t0009g0099 a0002c0005t0005g0206	3	240	0.0125	27	c.279 others(46): Show c.2794+3779_2794+3780insTTTTTTTTTTTTTTTTTTTTTTTTTT T	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02280.hp2 NA18970.hp2 HG01123.hp1 HG02280.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 a0001c0001t0001 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0171 a0001c0002t0002g0090 a0001c0002t0008g0089 a0001c0001t0001g0171 a0001c0002t0002g0090 a0001c0002t0008g0089	3	344	0.0087	27	c.495 others(42): Show c.495+248_495+274dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	322	0.0031	27	c.124 others(46): Show c.1249-1638_1249-1637insATATATATATATATATATATATATTT T	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	322	0.0031	27	c.124 others(46): Show c.1249-1638_1249-1637insATATATATATATATATATATATTTTT T	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	322	0.0031	27	c.124 others(46): Show c.1249-1638_1249-1637insATATATATATATATATATTTTTTTTT T	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31593986	A A	AGGCAGGG others(20): Show AGGCAGGGGCAGGGGCAGGGGCAGGGGC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0158 a0006c0013t0001g0158	1	322	0.0031	27	c.154 others(46): Show c.1544+4409_1544+4410insGGCAGGGGCAGGGGCAGGGGCAGGGG C	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31594010	G G	GGCAGGGG others(20): Show GGCAGGGGCAGAGGCAGGGGCAGAGGGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02683.hp2 HG03688.hp1 HG00738.hp2 HG02683.hp2 HG03688.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0015 a0006c0008t0001g0016 a0006c0008t0001g0317 a0006c0008t0001g0015 a0006c0008t0001g0016 a0006c0008t0001g0317	3	322	0.0093	27	c.154 others(46): Show c.1544+4433_1544+4434insGCAGGGGCAGAGGCAGGGGCAGAGGG C	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32			chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG01993.hp2 others(3): Show HG00558.hp2 HG00597.hp2 HG01993.hp2 HG04228.hp1 NA18955.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001	a0001c0001t0001g0263 a0001c0001t0002g0010 a0001c0001t0002g0032 others(3): Show a0001c0001t0001g0263 a0001c0001t0002g0010 a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0004g0319 a0001c0003t0001g0186	6	328	0.0183	27	c.124 others(44): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	53040968	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	328	0.0031	27	c.-13 others(46): Show c.-131+4821_-131+4847dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20			chr3	TogoVar
SFSWAP_chr12_131706090_131804738	131796020	G G	GGGGGAGG others(20): Show GGGGGAGGGGAGGGGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	318	0.0031	27	c.253 others(46): Show c.2535-1137_2535-1136insGGGAGAGGGGAGGGGAGGGGAGGGGA G	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFXN5_chr2_72937036_73076712	73050421	C C	CACACACA others(20): Show CACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18906.hp1 NA18945.hp2 HG04228.hp1 NA18906.hp1 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0022	a0001c0002t0001g0082 a0001c0002t0002g0037 a0001c0002t0022g0058 a0001c0002t0001g0082 a0001c0002t0002g0037 a0001c0002t0022g0058	3	250	0.0120	27	c.171 others(44): Show c.171+8106_171+8107insTGTGTGTGTGTGTGTGTGTGTGTGTGT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SGCZ_chr8_14079845_15243431	14146890	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0001 a0002c0002t0009g0001	1	102	0.0098	27	c.547 others(46): Show c.547+17689_547+17690insATTATTATTATTATTTTTTTTTTTTT T	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	5/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14493359	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG02622.hp2 HG02055.hp2 HG02486.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0075 a0001c0001t0078 a0001c0001t0042 a0001c0001t0075 a0001c0001t0078	a0001c0001t0042g0040 a0001c0001t0075g0044 a0001c0001t0078g0093 a0001c0001t0042g0040 a0001c0001t0075g0044 a0001c0001t0078g0093	3	102	0.0294	27	c.234 others(46): Show c.234+61346_234+61372dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14551445	C C	CATATATA others(20): Show CATATATATATTATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp2 HG01243.hp1 others(7): Show HG00642.hp2 HG01109.hp2 HG01243.hp1 HG01346.hp2 HG02895.hp2 HG02897.hp2 NA18612.hp1 NA18959.hp1 NA19000.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0001t0031 a0001c0001t0046 a0001c0001t0067 a0001c0001t0069 a0001c0001t0080	a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0008g0060 others(7): Show a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0008g0060 a0001c0001t0008g0061 a0001c0001t0011g0042 a0001c0001t0031g0013 a0001c0001t0046g0019 a0001c0001t0067g0068 a0001c0001t0069g0096 a0001c0001t0080g0090	10	102	0.0980	27	c.234 others(44): Show c.234+3260_234+3286dupTATATATAATATATATAATATATATAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14551551	A A	AATATATA others(20): Show AATATATATATTATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0001 a0002c0002t0009g0001	1	102	0.0098	27	c.234 others(44): Show c.234+3180_234+3181insAATATATATTATATATAATATATATAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14847164	A A	AGAAGAAG others(20): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0057 a0001c0001t0083g0057	1	102	0.0098	27	c.40- others(46): Show c.40-292239_40-292238insCTCTTCTTCTTCTTCTTCTTCTTCTT C	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGIP1_chr1_66529153_66756139	66660043	G G	GAAGGAAG others(20): Show GAAGGAAGGAAGGAAAGAAAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG01192.hp1 others(8): Show HG00140.hp1 HG00438.hp2 HG01192.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG02257.hp2 HG03098.hp1 HG03654.hp2 NA18906.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0026 a0001c0001t0027 a0001c0001t0052 a0001c0013t0004	a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0109 others(8): Show a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0109 a0001c0001t0002g0298 a0001c0001t0012g0104 a0001c0001t0012g0106 a0001c0001t0026g0207 a0001c0001t0027g0090 a0001c0001t0027g0091 a0001c0001t0052g0201 a0001c0013t0004g0099	11	302	0.0364	27	c.460 others(42): Show c.460-468_460-467insGGAAGGAAGGAAAGAAAAAGAAAGAAA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66736400	A A	ATATTATA others(20): Show ATATTATATGTGAATATAATATATTGCG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18969.hp2 NA19085.hp2 NA18949.hp1 NA18969.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0033 a0001c0001t0017g0034 a0001c0001t0017g0052 a0001c0001t0017g0033 a0001c0001t0017g0034 a0001c0001t0017g0052	3	302	0.0099	27	c.203 others(46): Show c.2032-2708_2032-2682dupGAATATAATATATTGCGTATTATATG T	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK1_chr6_134164256_134323112	134220058	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01981.hp1 HG02735.hp2 HG01258.hp1 HG01981.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0002t0002 a0001c0001t0001 a0001c0001t0011 a0001c0002t0002	a0001c0001t0001g0102 a0001c0001t0011g0055 a0001c0002t0002g0159 a0001c0001t0001g0102 a0001c0001t0011g0055 a0001c0002t0002g0159	3	250	0.0120	27	c.286 others(46): Show c.286-12654_286-12628dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134232411	A A	AAGAAAAG others(20): Show AAGAAAAGAAAGAAAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03195.hp1 HG02622.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0158 a0001c0001t0002g0243 a0001c0001t0001g0158 a0001c0001t0002g0243	2	250	0.0080	27	c.286 others(46): Show c.286-24981_286-24980insCTCTCTCTCTCTCTTTCTTTCTTTTC T	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAAAAGAA others(20): Show GAAAAGAAAGAAAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG02630.hp1 others(3): Show HG01243.hp2 HG02258.hp2 HG02630.hp1 HG02922.hp1 NA18522.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0011 a0001c0001 a0001c0007 a0003c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0007t0001 a0003c0011t0001	a0001c0001t0001g0160 a0001c0001t0001g0193 a0001c0001t0004g0077 others(3): Show a0001c0001t0001g0160 a0001c0001t0001g0193 a0001c0001t0004g0077 a0001c0001t0008g0166 a0001c0007t0001g0156 a0003c0011t0001g0101	6	250	0.0240	27	c.286 others(46): Show c.286-24983_286-24982insTTCTCTCTCTCTCTCTTTCTTTCTTT T	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK3_chr8_66707781_66867022	66726801	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01192.hp1 HG01978.hp2 others(2): Show HG00741.hp2 HG01192.hp1 HG01978.hp2 HG02293.hp1 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 others(2): Show a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0033 a0001c0002t0002g0140	5	142	0.0352	27	c.-12 others(48): Show c.-122+13990_-122+13991insAAAAAAAAAAAAAAAAAAAAAAAA AAA	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGMS1_chr10_50300600_50628956	50365255	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG01168.hp1 others(11): Show HG00639.hp1 HG00733.hp2 HG01168.hp1 HG01169.hp2 HG01261.hp1 HG01975.hp2 HG01981.hp2 HG02148.hp1 NA18940.hp2 NA18966.hp2 NA18993.hp1 NA19063.hp1 NA19089.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0143 a0001c0002t0001g0062 a0001c0002t0001g0089 others(11): Show a0001c0001t0001g0143 a0001c0002t0001g0062 a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0002t0001g0099 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0198 a0001c0002t0001g0211 a0001c0002t0001g0299 a0001c0002t0001g0310 a0001c0002t0002g0154 a0001c0003t0001g0064 a0001c0004t0001g0057	14	312	0.0449	27	c.-23 others(48): Show c.-231-20911_-231-20910insTTTTTTTTTTTTTTTTTTTTTTTT TTT	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	6/10			chr10	TogoVar
SGMS1_chr10_50300600_50628956	50574961	G G	GTAATATA others(20): Show GTAATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0261 a0001c0002t0002g0261	1	312	0.0032	27	c.-58 others(48): Show c.-589+15191_-589+15192insTATATATATATATATATATATATA TTA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
SGMS2_chr4_107819932_107920047	107902289	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02559.hp2 HG00735.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0122 a0001c0001t0004g0123	2	270	0.0074	27	c.574 others(42): Show c.574-932_574-931insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SGMS2	ENSG00000164023.15	transcript	ENST00000690982.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
SGPP2_chr2_222419543_222567621	222422285	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01071.hp2 HG01123.hp1 others(25): Show HG00639.hp1 HG01071.hp2 HG01123.hp1 HG01169.hp1 HG01169.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01952.hp1 HG02132.hp1 HG02523.hp1 HG02738.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03927.hp1 HG04184.hp1 NA18957.hp1 NA18971.hp2 NA18979.hp2 NA18986.hp2 NA19000.hp2 NA19060.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0008 others(1): Show a0001c0001 a0001c0004 a0002c0008 a0003c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(19): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0001t0028 a0001c0001t0031 a0001c0001t0046 a0001c0001t0055 a0001c0001t0057 a0001c0001t0060 a0001c0001t0066 a0001c0001t0093 a0001c0004t0077 a0002c0008t0005 a0003c0012t0001	a0001c0001t0002g0088 a0001c0001t0002g0106 a0001c0001t0003g0028 others(25): Show a0001c0001t0002g0088 a0001c0001t0002g0106 a0001c0001t0003g0028 a0001c0001t0003g0090 a0001c0001t0004g0167 a0001c0001t0005g0132 a0001c0001t0006g0092 a0001c0001t0006g0108 a0001c0001t0008g0068 a0001c0001t0008g0075 a0001c0001t0010g0080 a0001c0001t0010g0089 a0001c0001t0013g0031 a0001c0001t0014g0022 a0001c0001t0016g0061 a0001c0001t0016g0114 a0001c0001t0021g0097 a0001c0001t0028g0021 a0001c0001t0031g0086 a0001c0001t0046g0071 a0001c0001t0055g0098 a0001c0001t0057g0082 a0001c0001t0060g0112 a0001c0001t0066g0165 a0001c0001t0093g0105 a0001c0004t0077g0010 a0002c0008t0005g0096 a0003c0012t0001g0166	28	272	0.1029	27	c.-23 others(38): Show c.-2318_-2317insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding		2257		chr2	TogoVar
SH2B2_chr7_102281868_102326711	102299197	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01074.hp2 HG01167.hp1 others(5): Show HG01069.hp2 HG01074.hp2 HG01167.hp1 HG02074.hp1 HG02622.hp1 HG02897.hp2 HG03139.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0336 a0001c0001t0001g0371 a0001c0001t0001g0372 others(5): Show a0001c0001t0001g0336 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0375 a0001c0001t0001g0377 a0001c0001t0002g0118 a0001c0001t0004g0260 a0001c0001t0004g0261	8	406	0.0197	27	c.-29 others(44): Show c.-29-1306_-29-1305insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SH2B2	ENSG00000160999.11	transcript	ENST00000444095.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SH2B2_chr7_102281868_102326711	102303229	A A	AAAATCCG others(20): Show AAAATCCGATCTAATGATACCTGCCACC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	406	0.0025	27	c.729 others(44): Show c.729+1951_729+1977dupAAATCCGATCTAATGATACCTGCCACC	SH2B2	ENSG00000160999.11	transcript	ENST00000444095.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SH2D2A_chr1_156801243_156821848	156817047	T T	TCTCTCTC others(20): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03927.hp2 HG03688.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0004g0026 a0001c0001t0001g0004 a0001c0001t0004g0026	2	410	0.0049	27	c.-34 others(36): Show c.-340_-339insGAGAGAGAGAGAGAGAGAGAGAGAGAG	SH2D2A	ENSG00000027869.12	transcript	ENST00000368199.8	protein_coding		200		chr1	TogoVar

Search by Variant

Search

Search Results (Total: 7463 hits)