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
SLCO3A1_chr15_91848708_92170903	91971394	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03942.hp2 HG02976.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0020 a0001c0001t0003 a0001c0001t0020	a0001c0001t0003g0014 a0001c0001t0020g0126 a0001c0001t0003g0014 a0001c0001t0020g0126	2	190	0.0105	37	c.646 others(56): Show c.646+54952_646+54953insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO4A1_chr20_62637503_62677293	62666114	C C	CGCCCCCC others(30): Show CGCCCCCCCGCCCCCCCCCTTCCCCTTCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	432	0.0023	37	c.127 others(54): Show c.1277-266_1277-265insGCCCCCCCGCCCCCCCCCTTCCCCTTCC CCTTCCCCT	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11			chr20	TogoVar
SLCO4A1_chr20_62637503_62677293	62666118	G G	GCCCCCCC others(30): Show GCCCCCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01943.hp1 HG02523.hp2 others(2): Show HG00733.hp1 HG01943.hp1 HG02523.hp2 HG02698.hp1 HG02922.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0003 a0002c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0003 a0004c0005t0002	a0001c0001t0001g0338 a0001c0001t0003g0067 a0001c0001t0003g0186 others(2): Show a0001c0001t0001g0338 a0001c0001t0003g0067 a0001c0001t0003g0186 a0002c0002t0003g0139 a0004c0005t0002g0179	5	432	0.0116	37	c.127 others(54): Show c.1277-261_1277-260insCCCCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCC	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(30): Show CTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	310	0.0032	37	c.150 others(56): Show c.1502-1576_1502-1575insCTTTTTCTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	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(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0204 a0001c0002t0001g0204	1	310	0.0032	37	c.150 others(56): Show c.1502-1552_1502-1551insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLPI_chr20_45247239_45259564	45258282	A A	ATAGATAG others(30): Show ATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	398	0.0025	37	c.-37 others(48): Show c.-3740_-3739insATCTATCTATCTATCTATCTATCTATCTATCTAT CTA	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3719		chr20	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01255.hp1 HG02004.hp2 others(3): Show HG00280.hp2 HG01255.hp1 HG02004.hp2 HG02074.hp2 HG03834.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0091 a0001c0001t0002g0266 a0001c0001t0002g0275 others(3): Show a0001c0001t0001g0091 a0001c0001t0002g0266 a0001c0001t0002g0275 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0002t0001g0078	6	386	0.0155	37	c.299 others(56): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLU7_chr5_160396641_160424081	160396749	A A	AACTATTC others(30): Show AACTATTCTTGTTACCGAGACTTCAGAAAAATCCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	462	0.0022	37	c.65 others(48): Show c.6535_*6536insGAGGGGATTTTTCTGAAGTCTCGGTAACAAGAAT AGT	SLU7	ENSG00000164609.10	transcript	ENST00000297151.9	protein_coding		4891		chr5	TogoVar
SMAD2_chr18_47803957_47935659	47850306	T T	TATATTAT others(30): Show TATATTATATATATTATGTATAATATATATTATGTATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0244 a0001c0001t0244	a0001c0001t0244g0122 a0001c0001t0244g0122	1	310	0.0032	37	c.784 others(52): Show c.784+967_784+968insTATACATAATATATATTATACATAATATAT ATAATAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850489	T T	TATATATA others(30): Show TATATATAATGTATAATATATATTATATATAACATATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01496.hp1 others(1): Show HG01256.hp1 HG01258.hp1 HG01496.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0202 a0001c0001t0203 a0001c0001t0204 others(1): Show a0001c0001t0202 a0001c0001t0203 a0001c0001t0204 a0001c0001t0210	a0001c0001t0202g0220 a0001c0001t0203g0233 a0001c0001t0204g0295 others(1): Show a0001c0001t0202g0220 a0001c0001t0203g0233 a0001c0001t0204g0295 a0001c0001t0210g0294	4	310	0.0129	37	c.784 others(52): Show c.784+784_784+785insTATATGTTATATATAATATATATTATACAT TATATAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850490	A A	ACATATAA others(30): Show ACATATAATGTATAATATATGTTATATATAATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0004 a0001c0001t0094g0004	1	310	0.0032	37	c.784 others(52): Show c.784+783_784+784insATATATATTATATATAACATATATTATACA TTATATG	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850540	A A	ATATATTA others(30): Show ATATATTATATATTATATATATTATGTATAATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0284 a0001c0001t0092g0284	1	310	0.0032	37	c.784 others(52): Show c.784+733_784+734insATATATATTATACATAATATATATAATATA TAATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMARCA2_chr9_2010347_2198620	2176182	G G	GTTTTTTT others(30): Show GTTTTTTTTTTTTTTGTTTTTTTTTTTTTTGTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0012 a0001c0016t0012	a0001c0016t0012g0283 a0001c0016t0012g0283	1	316	0.0032	37	c.425 others(56): Show c.4254-5375_4254-5374insGTTTTTTTTTTTTTTGTTTTTTTTTT TTTTTTTTTTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	29/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCC1_chr3_47580269_47786893	47671196	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	219	0.0046	37	c.184 others(54): Show c.1840-480_1840-479insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27			chr3	TogoVar
SMC1A_chrX_53369149_53427654	53410926	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03225.hp1 HG02965.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0106 a0001c0001t0003g0124 a0001c0001t0001g0106 a0001c0001t0003g0124	2	213	0.0094	37	c.125 others(54): Show c.1254+834_1254+835insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	7/24			chrX	TogoVar
SMCO1_chr3_196501879_196520346	196511042	A A	AGCCACCT others(30): Show AGCCACCTAGATTGTCCTTATGAGGGAAACTTGCCTGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19030.hp1 HG02976.hp1 NA19030.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0042 a0004c0004t0003g0042	2	398	0.0050	37	c.51- others(52): Show c.51-1410_51-1374dupCCAGGCAAGTTTCCCTCATAAGGACAATCT AGGTGGC	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SMCO1_chr3_196501879_196520346	196511242	C C	CTTTATGA others(30): Show CTTTATGAGGGAAACTTGCCTGCGCCAAGTAGATTGTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0148 a0004c0004t0003g0148	1	398	0.0025	37	c.51- others(52): Show c.51-1574_51-1573insAACAATCTACTTGGCGCAGGCAAGTTTCCC TCATAAA	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SMCO1_chr3_196501879_196520346	196511379	A A	ACCTAGAT others(30): Show ACCTAGATTGTCCTTATGAGGGAAACTTGCCTGGGCCG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0012 a0004c0004t0012	a0004c0004t0012g0158 a0004c0004t0012g0158	1	398	0.0025	37	c.51- others(52): Show c.51-1711_51-1710insCGGCCCAGGCAAGTTTCCCTCATAAGGACA ATCTAGG	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SMCO1_chr3_196501879_196520346	196511390	C C	CTTTATGA others(30): Show CTTTATGAGGGAAACTTGCCTGCGCCAAGTAGATTGTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	398	0.0025	37	c.51- others(52): Show c.51-1722_51-1721insAACAATCTACTTGGCGCAGGCAAGTTTCCC TCATAAA	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SMCO1_chr3_196501879_196520346	196511601	A A	ACCTAGAT others(30): Show ACCTAGATTGTCCTTATGAGGGAAACCTGCCTGGGCCG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02040.hp1 HG02027.hp2 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	2	398	0.0050	37	c.51- others(52): Show c.51-1969_51-1933dupCGGCCCAGGCAGGTTTCCCTCATAAGGACA ATCTAGG	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SMCO1_chr3_196501879_196520346	196511825	C C	CTAGATTG others(30): Show CTAGATTGTCTTTATGAGGGAAACTTGCCTGCGCCAAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	398	0.0025	37	c.51- others(52): Show c.51-2157_51-2156insCTTGGCGCAGGCAAGTTTCCCTCATAAAGA CAATCTA	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SMCO1_chr3_196501879_196520346	196511960	T T	TTGCCTGC others(30): Show TTGCCTGCGCCAAGTAGATTGTTGTTATGAGGGAAACC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(58): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp1 HG01981.hp1 HG02257.hp1 HG02257.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02698.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03139.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04204.hp2 NA18979.hp1 NA18983.hp1 NA18991.hp1 NA19009.hp2 NA19043.hp2 NA19240.hp1 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0008t0002	a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0009 others(27): Show a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0022 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0123 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0009g0145 a0001c0001t0011g0133 a0001c0008t0002g0119 a0001c0008t0002g0122 a0001c0008t0002g0131 a0001c0008t0002g0132	61	398	0.1533	37	c.51- others(52): Show c.51-2292_51-2291insGGTTTCCCTCATAACAACAATCTACTTGGC GCAGGCA	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18969.hp2 NA18982.hp1 NA18951.hp1 NA18969.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	406	0.0074	37	c.16 others(48): Show c.1695_*1696insTATATATATATATATATATATATATTTTTTTTTT TTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(30): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	406	0.0025	37	c.16 others(48): Show c.1695_*1696insTATATATATATATATATATATTTTTTTTTTTTTT TTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(30): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	406	0.0025	37	c.16 others(48): Show c.1695_*1696insTATATATATATATATATATTTTTTTTTTTTTTTT TTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM42_chr1_158122287_158133301	158131613	A A	ATATTAGA others(30): Show ATATTAGAAACCTAAAGTCATCTTCCCACTCCTCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	406	0.0025	37	c.-35 others(48): Show c.-3540_-3539insAGGTGAGGAGTGGGAAGATGACTTTAGGTTTCTA ATA	SMIM42	ENSG00000288460.1	transcript	ENST00000672824.1	protein_coding		3313		chr1	TogoVar
SMN1_chr5_70920087_70958015	70936151	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	36	0.0278	37	c.82- others(52): Show c.82-2672_82-2671insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SMN1	ENSG00000172062.17	transcript	ENST00000380707.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMN2_chr5_70044669_70082595	70060727	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0092 a0001c0001t0005g0092	1	108	0.0093	37	c.82- others(52): Show c.82-2672_82-2671insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SMN2	ENSG00000205571.15	transcript	ENST00000380743.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SNCAIP_chr5_122307237_122469219	122448602	A A	ATTATATA others(30): Show ATTATATATATTTTTATATATATAATATATATTATATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00621.hp2 others(25): Show HG00140.hp1 HG00423.hp1 HG00621.hp2 HG00642.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01175.hp1 HG02109.hp1 HG02523.hp2 HG02698.hp1 HG03239.hp1 HG03491.hp2 HG03704.hp2 HG04115.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18963.hp1 NA18973.hp2 NA18977.hp2 NA18982.hp1 NA19007.hp2 NA19011.hp1 NA19062.hp2 NA19082.hp2 NA19087.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0007 a0006c0011 a0001c0001 a0001c0007 a0006c0011	a0001c0001t0001 a0001c0007t0001 a0006c0011t0001 a0001c0001t0001 a0001c0007t0001 a0006c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0035 others(25): Show a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0058 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0180 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0007t0001g0209 a0006c0011t0001g0138	28	222	0.1261	37	c.159 others(56): Show c.1593-1220_1593-1184dupAATATATATTATATGTTATATATATT TTTATATATAT	SNCAIP	ENSG00000064692.20	transcript	ENST00000261368.13	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SNCA_chr4_89719099_89842161	89802619	T T	TCTTTCTT others(30): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0134 a0001c0001t0007g0134	1	338	0.0030	37	c.306 others(56): Show c.306+19626_306+19627insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAG	SNCA	ENSG00000145335.17	transcript	ENST00000394991.8	protein_coding	4/5			chr4	TogoVar
SNRPA1_chr15_101276510_101300248	101289925	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	442	0.0023	37	c.309 others(54): Show c.309+2036_309+2037insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SNRPA1	ENSG00000131876.18	transcript	ENST00000254193.11	protein_coding	3/8			chr15	TogoVar
SNRPD3_chr22_24550999_24579971	24561064	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0252 a0001c0002t0002g0252	1	400	0.0025	37	c.126 others(54): Show c.126+3289_126+3290insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SNRPD3	ENSG00000100028.12	transcript	ENST00000215829.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
SNTB2_chr16_69182164_69314052	69199595	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0039 a0001c0002t0004g0039	1	218	0.0046	37	c.580 others(56): Show c.580+11865_580+11866insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNTB2_chr16_69182164_69314052	69208991	T T	TGTGTGTG others(30): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0070 a0001c0002t0014g0070	1	218	0.0046	37	c.580 others(56): Show c.580+21245_580+21246insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTG	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	1/6			chr16	TogoVar
SNTG1_chr8_49906407_50801692	49938603	T T	TTTTTTTT others(30): Show TTTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19085.hp2 HG01243.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0001 a0001c0001t0016 a0001c0002t0001	a0001c0001t0016g0003 a0001c0002t0001g0080 a0001c0001t0016g0003 a0001c0002t0001g0080	2	106	0.0189	37	c.-10 others(58): Show c.-103+26375_-103+26376insTTTTCTTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50381668	T T	TTATATAT others(30): Show TTATATATATATATAGGATATATATATCCTATTAGTTA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02698.hp2 HG02809.hp2 others(1): Show HG01071.hp2 HG02698.hp2 HG02809.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0013 a0001c0001t0048 others(1): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0048 a0001c0002t0036	a0001c0001t0004g0090 a0001c0001t0013g0068 a0001c0001t0048g0105 others(1): Show a0001c0001t0004g0090 a0001c0001t0013g0068 a0001c0001t0048g0105 a0001c0002t0036g0016	4	106	0.0377	37	c.-27 others(56): Show c.-27-12532_-27-12531insTAGGATATATATATCCTATTAGTTAT ATATATATATA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	1013217	A A	AGGGCAGA others(30): Show AGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	190	0.0053	37	c.72+ others(54): Show c.72+62171_72+62172insGAGAAGGATTTATATGGGCAGAGAGAAG GGTGGTCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013846	A A	AGGGCAGA others(30): Show AGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0001 a0002c0033t0001	a0002c0033t0001g0119 a0002c0033t0001g0119	1	190	0.0053	37	c.72+ others(54): Show c.72+62800_72+62801insTAGAGGGATTTATATGGGCAGAGAGAAG GGTGGTCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1031528	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0044 a0003c0008t0001g0044	1	190	0.0053	37	c.73- others(54): Show c.73-51989_73-51988insATATATATATATATATATATATATATAT ATTTTTTTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1221697	T T	TAGCTCTG others(30): Show TAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0183 a0002c0003t0001g0183	1	190	0.0053	37	c.719 others(56): Show c.719+12467_719+12468insAGCTCTGCCTCTGTTAGTCCCTCTCT GTCTCTCCCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SNX30_chr9_112745760_112879987	112855335	C C	CAGGAGTG others(30): Show CAGGAGTGCCGGGGAGGAGAGGTCCCCTGGTATGGGCA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0194 a0001c0001t0005g0194	1	338	0.0030	37	c.110 others(56): Show c.1101+4391_1101+4427dupAGGAGTGCCGGGGAGGAGAGGTCCCC TGGTATGGGCA	SNX30	ENSG00000148158.17	transcript	ENST00000374232.8	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SNX7_chr1_98656721_98765500	98763441	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	378	0.0027	37	c.33 others(48): Show c.3310_*3311insTATATATATATATATATATATATATATATATATA TAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2942		chr1	TogoVar
SNX9_chr6_157818246_157950077	157844587	G G	GTTTTTTT others(30): Show GTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02738.hp2 HG01358.hp1 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0042 a0002c0002t0002g0029 a0002c0002t0002g0042	2	302	0.0066	37	c.12+ others(54): Show c.12+21148_12+21149insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0052 a0002c0002t0002g0052	1	302	0.0033	37	c.949 others(54): Show c.949+5616_949+5617insAAAAAAAAAAAAAAATATATATATATAT ATATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18960.hp1 HG03942.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0023 a0002c0002t0002g0003 a0002c0002t0002g0023	2	302	0.0066	37	c.949 others(54): Show c.949+5616_949+5617insAAAAAAAAAAAAATATATATATATATAT ATATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0040	1	302	0.0033	37	c.949 others(54): Show c.949+5616_949+5617insAAAAAAAAAAATATATATATATATATAT ATATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOCS6_chr18_70284045_70335199	70333435	A A	ACATTATA others(30): Show ACATTATACATCATTCAGTTCTATGTATTTTGTAAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0235 a0001c0001t0025g0235	1	358	0.0028	37	c.71 others(48): Show c.7159_*7160insCATTATACATCATTCAGTTCTATGTATTTTGTAA ATT	SOCS6	ENSG00000170677.6	transcript	ENST00000397942.4	protein_coding		3237		chr18	TogoVar
SOHLH2_chr13_36163217_36219556	36184460	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18906.hp2 HG03486.hp1 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0249 a0001c0004t0002g0251 a0001c0004t0002g0249 a0001c0004t0002g0251	2	420	0.0048	37	c.641 others(54): Show c.641+5485_641+5486insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	SOHLH2	ENSG00000120669.16	transcript	ENST00000379881.8	protein_coding	6/10			chr13	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0099 a0001c0001t0018g0099	1	168	0.0060	37	c.481 others(56): Show c.481-22809_481-22808insATATATATATATATATATATATATAT ATATATTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0137 a0001c0001t0012g0137	1	168	0.0060	37	c.481 others(56): Show c.481-22809_481-22808insATATATATATATATATATATATATTT TTTTTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar

Search by Variant

Search

Search Results (Total: 3614 hits)