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
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0008 a0001c0001t0017g0008	1	364	0.0028	35	c.278 others(52): Show c.278-1287_278-1286insAAAAAAAAATATATATATATATATATAT ATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0129 a0005c0013t0129	a0005c0013t0129g0140 a0005c0013t0129g0140	1	364	0.0028	35	c.278 others(52): Show c.278-1287_278-1286insAAAAAAAAAAATATATATATATATATAT ATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237738	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0213 a0001c0001t0004g0213	1	364	0.0028	35	c.278 others(52): Show c.278-1288_278-1287insTATATATATATATATATATATATATATA TATATAT	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A4_chr22_21023718_21037561	21035848	G G	GTTGGGAT others(28): Show GTTGGGATTATAGAGTATATTGCCTTTTCAGGCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	442	0.0023	35	c.-33 others(46): Show c.-3359_-3358insGAAGCCTGAAAAGGCAATATACTCTATAATCCCA A	SLC7A4	ENSG00000099960.13	transcript	ENST00000382932.3	protein_coding		3288		chr22	TogoVar
SLC7A5_chr16_87825023_87874507	87872945	C C	CTTTCTTT others(28): Show CTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 NA20129.hp1 HG02897.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0045 a0001c0002t0010 a0001c0002t0045	a0001c0002t0010g0039 a0001c0002t0045g0033 a0001c0002t0010g0039 a0001c0002t0045g0033	2	390	0.0051	35	c.-35 others(46): Show c.-3524_-3523insAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA A	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding		3439		chr16	TogoVar
SLC8A1_chr2_40092270_40457090	40107279	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0186 a0001c0001t0186	a0001c0001t0186g0039 a0001c0001t0186g0039	1	236	0.0042	35	c.79 others(46): Show c.7973_*7974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	11/11	7973		chr2	TogoVar
SLC9A2_chr2_102614553_102716355	102632239	C C	CATATATA others(28): Show CATATATATATATATATTATTATATATATAATACAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0341 a0001c0001t0025g0341	1	344	0.0029	35	c.289 others(54): Show c.289+12119_289+12120insATTATATATATAATACATATATATAT ATATATATT	SLC9A2	ENSG00000115616.3	transcript	ENST00000233969.3	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC9A3_chr5_465456_529449	495377	G G	GCTCCCCG others(28): Show GCTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01361.hp2 HG01891.hp1 others(17): Show HG01169.hp2 HG01361.hp2 HG01891.hp1 HG02135.hp2 HG02486.hp2 HG02523.hp1 HG03209.hp2 HG03486.hp1 HG04199.hp1 HG04199.hp2 NA18747.hp1 NA18906.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18979.hp1 NA18986.hp2 NA19057.hp1 NA19074.hp2 NA19088.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0007 a0002c0002 others(4): Show a0001c0001 a0001c0007 a0002c0002 a0002c0004 a0002c0010 a0002c0011 a0009c0022	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0007t0005 a0002c0002t0002 a0002c0002t0003 a0002c0002t0020 a0002c0004t0006 a0002c0004t0015 a0002c0010t0028 a0002c0011t0003 a0009c0022t0005	a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0051 others(17): Show a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0004g0055 a0001c0001t0005g0166 a0001c0001t0005g0190 a0001c0007t0005g0187 a0002c0002t0002g0145 a0002c0002t0003g0168 a0002c0002t0003g0192 a0002c0002t0003g0202 a0002c0002t0003g0217 a0002c0002t0020g0115 a0002c0004t0006g0209 a0002c0004t0015g0133 a0002c0010t0028g0189 a0002c0011t0003g0195 a0009c0022t0005g0210	20	218	0.0917	35	c.212 others(52): Show c.212-3341_212-3307dupTGGAGCGTGGGGAGGGTCGGCGATGGCG CGGGGAG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	495377	G G	GCTCCCCG others(28): Show GCTCCCCGTGCCATCGCCGACCCTCCCCACGCTCCA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02109.hp1 HG02145.hp2 others(2): Show HG01261.hp2 HG02109.hp1 HG02145.hp2 NA18906.hp1 NA19043.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0017 a0001c0001 a0010c0017	a0001c0001t0001 a0010c0017t0004 a0001c0001t0001 a0010c0017t0004	a0001c0001t0001g0092 a0001c0001t0001g0120 a0001c0001t0001g0121 others(2): Show a0001c0001t0001g0092 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0010c0017t0004g0123	5	218	0.0229	35	c.212 others(52): Show c.212-3307_212-3306insTGGAGCGTGGGGAGGGTCGGCGATGGCA CGGGGAG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A7_chrX_46594251_46764118	46730670	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	250	0.0040	35	c.325 others(54): Show c.325+28034_325+28035insTATATATATATATATATATATATATA TATATATAT	SLC9A7	ENSG00000065923.10	transcript	ENST00000616978.5	protein_coding	1/16			chrX	TogoVar
SLC9A8_chr20_49807828_49897242	49884233	C C	CACACGAC others(28): Show CACACGACACACACACACACGACACACACACACACG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01346.hp2 HG02135.hp2 others(10): Show HG00280.hp1 HG01346.hp2 HG02135.hp2 HG02647.hp2 HG02738.hp2 NA18747.hp1 NA18941.hp1 NA18946.hp1 NA18959.hp1 NA18962.hp2 NA18965.hp1 NA18980.hp1 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0013 a0002c0004t0001 a0001c0001t0001 a0001c0001t0013 a0002c0004t0001	a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0237 others(10): Show a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0291 a0001c0001t0013g0234 a0002c0004t0001g0259	13	360	0.0361	35	c.149 others(52): Show c.1491+171_1491+172insGACACACACACACACGACACACACACAC ACGACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A8_chr20_49807828_49897242	49884274	G G	GACACACA others(28): Show GACACACACACACGACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0175 a0001c0003t0001g0175	1	360	0.0028	35	c.149 others(52): Show c.1491+220_1491+221insGACACACACACACACACACACACACACA CACACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A8_chr20_49807828_49897242	49884274	G G	GACACACA others(28): Show GACACACACGACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG03239.hp2 HG01975.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0034 a0001c0001t0004 a0001c0001t0034	a0001c0001t0004g0132 a0001c0001t0034g0048 a0001c0001t0004g0132 a0001c0001t0034g0048	2	360	0.0056	35	c.149 others(52): Show c.1491+216_1491+217insGACACACACACACACACACACACACACA CACACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A8_chr20_49807828_49897242	49884289	G G	GACACACA others(28): Show GACACACACGACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA18993.hp1 HG02895.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0033 a0001c0001t0004 a0001c0001t0033	a0001c0001t0004g0150 a0001c0001t0033g0324 a0001c0001t0004g0150 a0001c0001t0033g0324	2	360	0.0056	35	c.149 others(52): Show c.1491+231_1491+232insGACACACACACACACACACACACACACA CACACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLCO4C1_chr5_102228986_102301284	102255093	A A	ATTTATAT others(28): Show ATTTATATTTATATTTATATCCTATATCTATATATC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0187 a0001c0001t0008g0187	1	354	0.0028	35	c.146 others(54): Show c.1469+2021_1469+2022insGATATATAGATATAGGATATAAATAT AAATATAAA	SLCO4C1	ENSG00000173930.9	transcript	ENST00000310954.7	protein_coding	8/12			chr5	TogoVar
SLFN14_chr17_35538985_35565819	35561745	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0011 a0002c0012t0011	a0002c0012t0011g0009 a0002c0012t0011g0009	1	428	0.0023	35	c.-11 others(46): Show c.-1103_-1102insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		927		chr17	TogoVar
SLIT3_chr5_168656740_169306139	169079810	G G	GAGGAGGA others(28): Show GAGGAGGAGGAGGGAGGGAGGAGGAGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01934.hp1 NA18957.hp1 others(2): Show HG00735.hp1 HG01934.hp1 NA18957.hp1 NA18974.hp1 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0001c0007 a0001c0037 others(2): Show a0001c0006 a0001c0007 a0001c0037 a0001c0041 a0002c0030	a0001c0006t0002 a0001c0007t0015 a0001c0037t0013 others(2): Show a0001c0006t0002 a0001c0007t0015 a0001c0037t0013 a0001c0041t0001 a0002c0030t0002	a0001c0006t0002g0039 a0001c0007t0015g0054 a0001c0037t0013g0021 others(2): Show a0001c0006t0002g0039 a0001c0007t0015g0054 a0001c0037t0013g0021 a0001c0041t0001g0053 a0002c0030t0002g0033	5	132	0.0379	35	c.413 others(56): Show c.413+113668_413+113669insTCCCTCCCTCCTCCTCCTCCCTCC CTCCTCCTCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLITRK4_chrX_143617790_143641101	143639947	C C	CAAAATAA others(28): Show CAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0199 a0001c0001t0041g0199	1	335	0.0030	35	c.-42 others(46): Show c.-4264_-4263insATTTTATTTTATTTTATTTTATTTTATTTTATTT T	SLITRK4	ENSG00000179542.16	transcript	ENST00000356928.2	protein_coding		3847		chrX	TogoVar
SLK_chr10_103962140_104034233	104031182	C C	CTTGTGTT others(28): Show CTTGTGTTTCTGAGTTTGCTAAAGTTACAGACCAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0143 a0002c0002t0005g0143	1	376	0.0027	35	c.54 others(46): Show c.5462_*5463insTTGTGTTTCTGAGTTTGCTAAAGTTACAGACCAA T	SLK	ENSG00000065613.15	transcript	ENST00000369755.4	protein_coding		1950		chr10	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(28): Show CTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA19007.hp1 HG03669.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0052 a0001c0001t0002g0022 a0001c0001t0002g0052	2	310	0.0065	35	c.150 others(54): Show c.1502-1576_1502-1575insCTTTTTCTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906310	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0197 a0001c0002t0001g0197	1	310	0.0032	35	c.150 others(54): Show c.1502-1552_1502-1551insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLPI_chr20_45247239_45259564	45258288	A A	AGATAGAT others(28): Show AGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01123.hp1 HG01168.hp1 others(11): Show HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01928.hp2 HG02004.hp1 HG02818.hp2 HG03704.hp1 HG03710.hp1 NA18961.hp1 NA18977.hp2 NA18985.hp1 NA18993.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0024 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0046	14	398	0.0352	35	c.-37 others(46): Show c.-3746_-3745insATCTATCTATCTATCTATCTATCTATCTATCTAT C	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3725		chr20	TogoVar
SLPI_chr20_45247239_45259564	45258292	A A	AGATAGAT others(28): Show AGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01069.hp2 HG01167.hp1 others(11): Show HG00735.hp2 HG01069.hp2 HG01167.hp1 HG01169.hp2 HG01952.hp1 HG02027.hp1 HG02300.hp2 HG02486.hp2 HG02922.hp1 HG03540.hp2 HG03669.hp2 NA19007.hp2 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0051	14	398	0.0352	35	c.-37 others(46): Show c.-3750_-3749insATCTATCTATCTATCTATCTATCTATCTATCTAT C	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3729		chr20	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18962.hp2 NA18963.hp2 others(2): Show NA18949.hp1 NA18962.hp2 NA18963.hp2 NA18982.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0313 a0001c0001t0002g0314 others(2): Show a0001c0001t0002g0303 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0349	5	386	0.0130	35	c.299 others(54): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18906.hp2 HG02071.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0050 a0001c0001t0011 a0001c0001t0050	a0001c0001t0011g0230 a0001c0001t0050g0213 a0001c0001t0011g0230 a0001c0001t0050g0213	2	310	0.0065	35	c.237 others(54): Show c.237-11478_237-11477insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMARCA2_chr9_2010347_2198620	2176182	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTGTTTTTTTTTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02895.hp2 HG02896.hp1 others(1): Show HG01243.hp2 HG02895.hp2 HG02896.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0010 a0001c0003 a0002c0010	a0001c0003t0001 a0001c0003t0011 a0002c0010t0002 a0001c0003t0001 a0001c0003t0011 a0002c0010t0002	a0001c0003t0001g0262 a0001c0003t0011g0266 a0002c0010t0002g0268 others(1): Show a0001c0003t0001g0262 a0001c0003t0011g0266 a0002c0010t0002g0268 a0002c0010t0002g0269	4	316	0.0127	35	c.425 others(54): Show c.4254-5375_4254-5374insGTTTTTTTTTTTTTTGTTTTTTTTTT TTTTTTTTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	29/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2176192	T T	TTTTTGTT others(28): Show TTTTTGTTTTTTTTTTTTTTGTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0001 a0004c0017t0001	a0004c0017t0001g0144 a0004c0017t0001g0144	1	316	0.0032	35	c.425 others(54): Show c.4254-5375_4254-5374insGTTTTTTTTTTTTTTGTTTTTTTTTT TTTTGTTTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	29/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCC1_chr3_47580269_47786893	47740178	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	219	0.0046	35	c.402 others(52): Show c.402-2069_402-2068insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	3/27			chr3	TogoVar
SMC1A_chrX_53369149_53427654	53410926	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	213	0.0047	35	c.125 others(52): Show c.1254+834_1254+835insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	7/24			chrX	TogoVar
SMC6_chr2_17658812_17758810	17754895	C C	CCCTTCCT others(28): Show CCCTTCCTTGGCTTAGGTTTCAGCGCCCCTTCTCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	254	0.0039	35	c.-13 others(46): Show c.-1363_-1362insTTGAGAAGGGGCGCTGAAACCTAAGCCAAGGAAG G	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding		1086		chr2	TogoVar
SMIM2_chr13_44138150_44166257	44142132	C C	CCTCGGCT others(28): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 NA19030.hp1 HG03239.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0001 a0001c0001t0001g0040	2	380	0.0053	35	c.17 others(46): Show c.1785_*1786insCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA G	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMIM31_chr4_164749131_164808795	164755534	A A	AGGAGGGG others(28): Show AGGAGGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG06807.hp1 NA19240.hp2 HG02486.hp2 HG06807.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0231 a0001c0001t0007g0232 a0001c0001t0007g0256 a0001c0001t0007g0231 a0001c0001t0007g0232 a0001c0001t0007g0256	3	364	0.0082	35	c.-26 others(52): Show c.-26+1127_-26+1128insGGGAGAGGAGGGGAGGGGAGGGGAGGGG AGGGGAG	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM33_chr5_139466004_139478700	139466034	T T	TACATCAG others(28): Show TACATCAGCAATCACATTCCTGGCCAATATGTCACC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	416	0.0024	35	c.-50 others(46): Show c.-5088_-5087insACATCAGCAATCACATTCCTGGCCAATATGTCAC C	SMIM33	ENSG00000283288.2	transcript	ENST00000637503.2	protein_coding		4969		chr5	TogoVar
SMIM36_chr17_55444856_55516452	55453298	C C	CAGAGTAA others(28): Show CAGAGTAAGACCTTGTCTACATAAATAAGTAAGTAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18906.hp1 HG01081.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0316 a0001c0001t0002g0249 a0001c0001t0002g0316	2	340	0.0059	35	c.53 others(54): Show c.532-3001_*532-3000insTTACTTACTTATTTATGTAGACAAGG TCTTACTCT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	4/4			chr17	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18975.hp1 NA18984.hp1 others(2): Show NA18968.hp1 NA18975.hp1 NA18984.hp1 NA19003.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	5	406	0.0123	35	c.16 others(46): Show c.1695_*1696insTATATATATATATATATATATATATTTTTTTTTT T	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(28): Show ATATATATATATATATATATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00738.hp2 HG01169.hp2 others(2): Show HG00597.hp1 HG00738.hp2 HG01169.hp2 NA18946.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0007g0019 a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0007g0019	5	406	0.0123	35	c.16 others(46): Show c.1695_*1696insTATATATATATATATATATATATTTTTTTTTTTT T	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 NA18747.hp1 HG01496.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0067 a0001c0001t0001g0002 a0001c0001t0001g0067	2	406	0.0049	35	c.16 others(46): Show c.1695_*1696insTATATATATATATATATATATTTTTTTTTTTTTT T	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(28): Show ATATATATATATATATATATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	406	0.0025	35	c.16 others(46): Show c.1695_*1696insTATATATATATATATATATTTTTTTTTTTTTTTT T	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMYD2_chr1_214276159_214342131	214299465	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	380	0.0026	35	c.174 others(52): Show c.174-5722_174-5721insATATATATATATATATATATATATATAT ATATATA	SMYD2	ENSG00000143499.14	transcript	ENST00000366957.10	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245833073	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACAAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18963.hp1 HG00423.hp1 NA18963.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0002 a0001c0002t0001 a0002c0003t0002	a0001c0002t0001g0053 a0002c0003t0002g0131 a0001c0002t0001g0053 a0002c0003t0002g0131	2	150	0.0133	35	c.107 others(56): Show c.1076+25422_1076+25423insGTTGTGTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD4_chr17_1774485_1834902	1794105	A A	ATATATAT others(28): Show ATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0005 a0006c0005t0005	a0006c0005t0005g0093 a0006c0005t0005g0093	1	390	0.0026	35	c.153 others(54): Show c.1537+5751_1537+5752insAAAAAAAAAAAAATATATATATATAT ATATATATA	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	5/10			chr17	TogoVar
SNAP23_chr15_42490634_42538058	42537233	T T	TCCACACA others(28): Show TCCACACACACACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0232 a0001c0002t0003g0232	1	308	0.0033	35	c.57 others(46): Show c.5755_*5756insCCACACACACACACACACACACACACACACACAC A	SNAP23	ENSG00000092531.10	transcript	ENST00000249647.8	protein_coding		4176		chr15	TogoVar
SNED1_chr2_240993618_241100568	241036039	G G	GGGTTGGG others(28): Show GGGTTGGGGGGTGGAGGTGCGTCACGGGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0088 a0001c0006t0002g0088	1	344	0.0029	35	c.806 others(50): Show c.806-751_806-750insGGTTGGGGGGTGGAGGTGCGTCACGGGGTG GGGGT	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	4/31			chr2	TogoVar
SNRPG_chr2_70276362_70298740	70283096	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	424	0.0024	35	c.181 others(52): Show c.181-1413_181-1412insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SNRPG	ENSG00000143977.14	transcript	ENST00000272348.7	protein_coding	3/3			chr2	TogoVar
SNTG1_chr8_49906407_50801692	49938603	T T	TTTTCTTT others(28): Show TTTTCTTTTCTTTTTTTTCTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0102 a0001c0001t0004g0102	1	106	0.0094	35	c.-10 others(56): Show c.-103+26379_-103+26380insTCTTTTTTTTCTTTTCTTTCTTTC TTTCTTTCTTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	49938603	T T	TTTTTTCT others(28): Show TTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0058 a0001c0001t0024g0058	1	106	0.0094	35	c.-10 others(56): Show c.-103+26375_-103+26376insTTCTTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50381649	T T	TATATATA others(28): Show TATATATATATCCTATTAGTTATATATATATATAGG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	106	0.0094	35	c.-27 others(54): Show c.-27-12532_-27-12531insTAGGATATATATATCCTATTAGTTAT ATATATATA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50381750	G G	GATATATA others(28): Show GATATATATATCCTATTAGTTATATATATAGGATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0073 a0001c0002t0021g0073	1	106	0.0094	35	c.-27 others(54): Show c.-27-12441_-27-12407dupATATATATAGGATATATATATATATC CTATTAGTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50701618	C C	CTTCTTCT others(28): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03041.hp1 HG02896.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0033 a0001c0001t0002g0017 a0001c0001t0002g0033	2	106	0.0189	35	c.103 others(54): Show c.1039-2982_1039-2981insTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	15/18			chr8	TogoVar
SNTG2_chr2_945849_1372613	1056251	T T	TGTGCTGT others(28): Show TGTGCTGTGGGGAGGGAGGGAGGGAGAGGCCGCGCC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19000.hp2 NA18986.hp1 NA19000.hp2	a0008 a0023 a0008 a0023	a0008c0011 a0023c0027 a0008c0011 a0023c0027	a0008c0011t0001 a0023c0027t0001 a0008c0011t0001 a0023c0027t0001	a0008c0011t0001g0128 a0023c0027t0001g0127 a0008c0011t0001g0128 a0023c0027t0001g0127	2	190	0.0105	35	c.73- others(52): Show c.73-27210_73-27176dupGGAGAGGCCGCGCCGTGCTGTGGGGAGG GAGGGAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results (Total: 4618 hits)