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
SORCS2_chr4_7187538_7747827	7525891	TCACCTGT others(30): Show TCACCTGTCTCCTCCTGCAGTCACCTGTCCCCTCCTCA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp2 HG01243.hp2 others(33): Show HG00639.hp1 HG01106.hp2 HG01243.hp2 HG01258.hp2 HG02056.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02976.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03492.hp1 HG03710.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18962.hp1 NA19000.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0009 a0010 a0016	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0001c0014 a0001c0036 a0001c0041 a0001c0048 a0002c0004 a0002c0050 a0003c0012 a0003c0013 a0003c0042 a0004c0007 a0004c0043 a0004c0044 a0005c0045 a0009c0025 a0010c0040 a0016c0019	a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 others(33): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0072 a0001c0002t0005 a0001c0002t0054 a0001c0002t0065 a0001c0003t0002 a0001c0003t0009 a0001c0003t0015 a0001c0003t0022 a0001c0003t0052 a0001c0003t0064 a0001c0005t0001 a0001c0005t0007 a0001c0005t0019 a0001c0005t0023 a0001c0011t0017 a0001c0014t0019 a0001c0014t0034 a0001c0036t0044 a0001c0041t0013 a0001c0048t0001 a0002c0004t0002 a0002c0050t0045 a0003c0012t0036 a0003c0013t0021 a0003c0013t0033 a0003c0042t0003 a0004c0007t0015 a0004c0043t0037 a0004c0044t0046 a0005c0045t0001 a0009c0025t0031 a0010c0040t0004 a0016c0019t0018	a0001c0001t0004g0097 a0001c0001t0008g0142 a0001c0001t0010g0129 others(33): Show a0001c0001t0004g0097 a0001c0001t0008g0142 a0001c0001t0010g0129 a0001c0001t0072g0161 a0001c0002t0005g0069 a0001c0002t0054g0050 a0001c0002t0065g0004 a0001c0003t0002g0073 a0001c0003t0009g0086 a0001c0003t0015g0034 a0001c0003t0022g0043 a0001c0003t0052g0147 a0001c0003t0064g0005 a0001c0005t0001g0156 a0001c0005t0007g0154 a0001c0005t0019g0104 a0001c0005t0023g0032 a0001c0011t0017g0120 a0001c0014t0019g0139 a0001c0014t0034g0040 a0001c0036t0044g0022 a0001c0041t0013g0031 a0001c0048t0001g0146 a0002c0004t0002g0127 a0002c0050t0045g0132 a0003c0012t0036g0010 a0003c0013t0021g0100 a0003c0013t0033g0041 a0003c0042t0003g0066 a0004c0007t0015g0166 a0004c0043t0037g0058 a0004c0044t0046g0016 a0005c0045t0001g0148 a0009c0025t0031g0025 a0010c0040t0004g0024 a0016c0019t0018g0027	36	168	0.2143	-37	c.549 others(54): Show c.549-5630_549-5594delTCCTCCTGCAGTCACCTGTCCCCTCCTC ACACCTGTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7602449	AGGCAGAG others(30): Show AGGCAGAGGCGCTCCTCACATCCCAGACGGGGCGGCGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0052 a0001c0001t0020g0052	1	168	0.0060	-37	c.649 others(56): Show c.649-35864_649-35828delTCACATCCCAGACGGGGCGGCGGGGC AGAGGCGCTCC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7746329	CGTCTCCT others(30): Show CGTCTCCTGCAGACTGCACAGCCTGGGGTCTTTTTGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0075 a0001c0033t0075	a0001c0033t0075g0160 a0001c0033t0075g0160	1	168	0.0060	-37	c.60 others(48): Show c.6066_*6102delGTCTCCTGCAGACTGCACAGCCTGGGGTCTTTTT GCA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding		3503		chr4	TogoVar
SOX6_chr11_15961449_16361546	16132382	GAAAGAAA others(30): Show GAAAGAAAGAAAGAAAGAAAAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	218	0.0046	-37	c.778 others(56): Show c.778-20496_778-20460delTTCTTTCTTTCTTTCTTTTTTCTTTC TTTCTTTCTTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132386	GAAAGAAA others(30): Show GAAAGAAAGAAAGAAAAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA18990.hp1 HG01943.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0068 a0001c0001t0003g0166 a0001c0001t0002g0068 a0001c0001t0003g0166	2	218	0.0092	-37	c.778 others(56): Show c.778-20500_778-20464delTTCTTTCTTTCTTTCTTTCTTTTTTC TTTCTTTCTTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132390	GAAAGAAA others(30): Show GAAAGAAAGAAAAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18964.hp2 HG02300.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0081 a0001c0001t0004g0111 a0001c0001t0002g0081 a0001c0001t0004g0111	2	218	0.0092	-37	c.778 others(56): Show c.778-20504_778-20468delTTCTTTCTTTCTTTCTTTCTTTCTTT TTTCTTTCTTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132398	GAAAAAAG others(30): Show GAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	218	0.0046	-37	c.778 others(56): Show c.778-20512_778-20476delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132415	AAGAAAGA others(30): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0039 a0001c0001t0009g0039	1	218	0.0046	-37	c.778 others(56): Show c.778-20529_778-20493delCTTTCTTTTTTCTTTCTTTCTTTCTT TCTTTCTTTCT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SP100_chr2_230411201_230550606	230510473	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0270 a0003c0004t0002g0270	1	290	0.0035	-37	c.205 others(54): Show c.2053-629_2053-593delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPA17_chr11_124668904_124702518	124702212	TTATTCCT others(30): Show TTATTCCTATTTTCCCTTTCCTGCTATCTGTAATGAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0065 a0001c0001t0012g0065	1	356	0.0028	-37	c.77 others(48): Show c.7767_*7803delTATTCCTATTTTCCCTTTCCTGCTATCTGTAATG AAC	SPA17	ENSG00000064199.7	transcript	ENST00000227135.7	protein_coding		4695		chr11	TogoVar
SPACA3_chr17_32986847_33002877	33000025	TGGCATTT others(30): Show TGGCATTTTTGACTTAAGATAATGACCTCCAATTCCAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	470	0.0021	-37	c.22 others(48): Show c.2248_*2284delGGCATTTTTGACTTAAGATAATGACCTCCAATTC CAA	SPACA3	ENSG00000141316.13	transcript	ENST00000269053.8	protein_coding		2149		chr17	TogoVar
SPACA6_chr19_51688330_51710190	51704722	GTCCAGGT others(30): Show GTCCAGGTCCGCAGCCCCTCCTCCCTCAGACCCAGGAT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	416	0.0024	-37	c.941 others(52): Show c.941+249_941+285delTCCGCAGCCCCTCCTCCCTCAGACCCAGGA TTCCAGG	SPACA6	ENSG00000182310.16	transcript	ENST00000637797.2	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPACA7_chr13_112371355_112439689	112383116	AAAAGAAA others(30): Show AAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03195.hp1 HG02630.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0296 a0001c0001t0001g0297	2	391	0.0051	-37	c.94+ others(52): Show c.94+6645_94+6681delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAA	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPIB_chr19_50413938_50436314	50434965	GTGGGGGC others(30): Show GTGGGGGCCTGGACTCTTGGGTCTGAGGGAGGAGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02895.hp1 HG02970.hp1 others(1): Show HG02280.hp1 HG02895.hp1 HG02970.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0009 a0002c0001t0003 a0001c0002t0009 a0002c0001t0003	a0001c0002t0009g0012 a0001c0002t0009g0031 a0002c0001t0003g0125 a0001c0002t0009g0012 a0001c0002t0009g0031 a0002c0001t0003g0125	4	388	0.0103	-37	c.66 others(48): Show c.6630_*6666delTGGGGGCCTGGACTCTTGGGTCTGAGGGAGGAGG GGC	SPIB	ENSG00000269404.7	transcript	ENST00000595883.6	protein_coding		3652		chr19	TogoVar
SPIB_chr19_50413938_50436314	50434981	TTGGGTCT others(30): Show TTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02055.hp1 others(22): Show HG01109.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03209.hp1 NA18522.hp1 NA18939.hp1 NA18969.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0008 others(1): Show a0001c0002 a0001c0003 a0001c0008 a0002c0001	a0001c0002t0004 a0001c0002t0014 a0001c0003t0001 others(4): Show a0001c0002t0004 a0001c0002t0014 a0001c0003t0001 a0001c0003t0004 a0001c0003t0015 a0001c0008t0001 a0002c0001t0004	a0001c0002t0004g0025 a0001c0002t0004g0028 a0001c0002t0004g0033 others(12): Show a0001c0002t0004g0025 a0001c0002t0004g0028 a0001c0002t0004g0033 a0001c0002t0004g0054 a0001c0002t0004g0150 a0001c0002t0004g0152 a0001c0002t0004g0179 a0001c0002t0004g0180 a0001c0002t0004g0183 a0001c0002t0014g0046 a0001c0003t0001g0001 a0001c0003t0004g0043 a0001c0003t0015g0096 a0001c0008t0001g0074 a0002c0001t0004g0133	25	388	0.0644	-37	c.66 others(48): Show c.6646_*6682delTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGAC TCC	SPIB	ENSG00000269404.7	transcript	ENST00000595883.6	protein_coding		3668		chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2347360	ACACACAC others(30): Show ACACACACTCTCATTCGCCTGATTCCGTTCTCTCTCTC	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0011 a0001c0010t0011	a0001c0010t0011g0144 a0001c0010t0011g0144	1	414	0.0024	-37	c.135 others(56): Show c.1354+2038_1354+2074delTCTCATTCGCCTGATTCCGTTCTCTC TCTCCACACAC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2347767	ACACACAC others(30): Show ACACACACTCTCATTCGCCTGATTCCGTTCTCTCTCTC	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	2	414	0.0048	-37	c.135 others(56): Show c.1354+2445_1354+2481delTCTCATTCGCCTGATTCCGTTCTCTC TCTCCACACAC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL3_chr12_120757510_120909358	120852395	TATATGAA others(30): Show TATATGAAATATATGCATATATAATATACATATTTTAC	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA19080.hp1 HG03239.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0294 a0001c0001t0009g0208 a0001c0001t0003g0294 a0001c0001t0009g0208	2	320	0.0063	-37	c.24- others(54): Show c.24-41546_24-41510delGTAAAATATGTATATTATATATGCATAT ATTTCATAT	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120852410	CATATATA others(30): Show CATATATAATATACATATTTTACATATGAAATATATGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01099.hp2 HG02109.hp2 others(32): Show HG00408.hp1 HG01099.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG03195.hp2 HG03540.hp1 HG03688.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18944.hp2 NA18950.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp2 NA18965.hp1 NA18988.hp1 NA19000.hp1 NA19011.hp1 NA19074.hp2 NA19078.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0002t0005 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0026 a0001c0002t0027	a0001c0001t0004g0127 a0001c0001t0005g0080 a0001c0002t0005g0072 others(32): Show a0001c0001t0004g0127 a0001c0001t0005g0080 a0001c0002t0005g0072 a0001c0002t0005g0073 a0001c0002t0005g0074 a0001c0002t0005g0075 a0001c0002t0005g0077 a0001c0002t0005g0079 a0001c0002t0005g0087 a0001c0002t0005g0090 a0001c0002t0005g0094 a0001c0002t0005g0096 a0001c0002t0005g0100 a0001c0002t0005g0106 a0001c0002t0005g0110 a0001c0002t0005g0111 a0001c0002t0005g0112 a0001c0002t0005g0151 a0001c0002t0006g0071 a0001c0002t0006g0083 a0001c0002t0006g0084 a0001c0002t0006g0088 a0001c0002t0006g0092 a0001c0002t0006g0097 a0001c0002t0006g0098 a0001c0002t0006g0099 a0001c0002t0006g0101 a0001c0002t0006g0103 a0001c0002t0006g0107 a0001c0002t0006g0148 a0001c0002t0006g0149 a0001c0002t0006g0150 a0001c0002t0008g0095 a0001c0002t0026g0108 a0001c0002t0027g0091	35	320	0.1094	-37	c.24- others(54): Show c.24-41561_24-41525delACATATATTTCATATGTAAAATATGTAT ATTATATAT	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SRGAP2_chr1_206198541_206469436	206372947	CTTTCTTT others(30): Show CTTTCTTTCTTTTCTTTCCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp1 NA19030.hp1 HG01109.hp1 HG02109.hp1 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0030 a0001c0006t0009 a0001c0006t0030	a0001c0006t0009g0161 a0001c0006t0009g0163 a0001c0006t0030g0162 a0001c0006t0009g0161 a0001c0006t0009g0163 a0001c0006t0030g0162	3	182	0.0165	-37	c.424 others(56): Show c.424-11066_424-11030delTTTCTTTCTTTTCTTTCCTTTCTTTC TTTCTTTCTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22			chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206372956	TTTTCTTT others(30): Show TTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0140 a0001c0003t0004g0140	1	182	0.0055	-37	c.424 others(56): Show c.424-11049_424-11013delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTC	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SS18L1_chr20_62138769_62187514	62148348	CGGTCAGG others(30): Show CGGTCAGGTGAGGGAGGCTCGGCCTCCTTGCTGTCTTA	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19011.hp2 NA19091.hp1 HG02132.hp2 NA19011.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130	3	316	0.0095	-37	c.69+ others(52): Show c.69+4515_69+4551delCGGCCTCCTTGCTGTCTTAGGTCAGGTGAG GGAGGCT	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
SSX3_chrX_48341427_48361703	48343913	GAACTTAA others(30): Show GAACTTAAAGTATAATTTAAAAAAAAAAGTTCATTAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	331	0.0030	-37	c.30 others(48): Show c.3090_*3126delTCTAATGAACTTTTTTTTTTAAATTATACTTTAA GTT	SSX3	ENSG00000165584.16	transcript	ENST00000298396.7	protein_coding		2513		chrX	TogoVar
ST6GAL1_chr3_186925526_187083553	186984741	TCCCTCCC others(30): Show TCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0256 a0001c0001t0003g0256	1	362	0.0028	-37	c.-18 others(58): Show c.-183+20818_-183+20854delCTCCCTCCCTCCCTCCCTCCCTCC TTCCTTCCTTCCC	ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
ST8SIA1_chr12_22188391_22339707	22320983	GAAAGAAA others(30): Show GAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03704.hp1 HG03239.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0162 a0001c0001t0086 a0001c0001t0162	a0001c0001t0086g0016 a0001c0001t0162g0076 a0001c0001t0086g0016 a0001c0001t0162g0076	2	282	0.0071	-37	c.236 others(56): Show c.236+12977_236+13013delTTCTTTCTTTCTTTCTTCTTTCTTTC TTTCTTTCTTT	ST8SIA1	ENSG00000111728.11	transcript	ENST00000396037.9	protein_coding	1/4			chr12	TogoVar
STARD13_chr13_33098137_33290755	33240671	TATCCTTA others(30): Show TATCCTTAAGTTTATCCTTAAGTATTTTATCCTTAAGG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp1 HG02896.hp2 others(6): Show HG01243.hp2 HG02559.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp1 HG03195.hp2 HG03834.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0014 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0004t0004 a0001c0008t0001 a0001c0008t0008 a0001c0008t0029 a0001c0014t0020 a0002c0003t0003	a0001c0001t0001g0146 a0001c0001t0004g0043 a0001c0002t0002g0071 others(6): Show a0001c0001t0001g0146 a0001c0001t0004g0043 a0001c0002t0002g0071 a0001c0004t0004g0145 a0001c0008t0001g0060 a0001c0008t0008g0126 a0001c0008t0029g0301 a0001c0014t0020g0148 a0002c0003t0003g0261	9	302	0.0298	-37	c.169 others(56): Show c.169+44762_169+44798delCCTTAAGGATAAAATACTTAAGGATA AACTTAAGGAT	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STEAP1B_chr7_22414444_22505188	22456630	ATAGATAA others(30): Show ATAGATAAGGGGAAAGATGTGAATCTGAAAGAAATGTC	A A	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	384	0.0026	-37	c.762 others(56): Show c.762+35898_762+35934delGACATTTCTTTCAGATTCACATCTTT CCCCTTATCTA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STK33_chr11_8386870_8599228	8553167	AATATATA others(30): Show AATATATATATATATATATATATATATATATGGTGTAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01891.hp1 HG02155.hp1 others(32): Show HG00408.hp1 HG01891.hp1 HG02155.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03486.hp1 HG03540.hp2 NA18953.hp1 NA18956.hp2 NA18964.hp1 NA18970.hp1 NA18972.hp2 NA18992.hp1 NA19000.hp2 NA19004.hp2 NA19054.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0004 a0001c0001t0009 a0001c0001t0013 others(5): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0013 a0001c0001t0026 a0001c0001t0028 a0001c0002t0016 a0002c0004t0004 a0002c0004t0022	a0001c0001t0004g0001 a0001c0001t0004g0122 a0001c0001t0004g0127 others(31): Show a0001c0001t0004g0001 a0001c0001t0004g0122 a0001c0001t0004g0127 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0009g0125 a0001c0001t0009g0126 a0001c0001t0009g0130 a0001c0001t0009g0131 a0001c0001t0009g0132 a0001c0001t0009g0133 a0001c0001t0009g0144 a0001c0001t0013g0002 a0001c0001t0026g0331 a0001c0001t0028g0155 a0001c0002t0016g0332 a0002c0004t0004g0128 a0002c0004t0004g0129 a0002c0004t0004g0134 a0002c0004t0004g0135 a0002c0004t0022g0151	35	334	0.1048	-37	c.-46 others(58): Show c.-466+40879_-466+40915delATACACCATATATATATATATATA TATATATATATAT	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK3_chr8_98449633_98830688	98825857	CGCCCCGC others(30): Show CGCCCCGCCCCGCCCCCGGCCGCGCCGGCCGCCAGCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00597.hp2 others(15): Show HG00323.hp1 HG00408.hp2 HG00597.hp2 HG01081.hp2 HG01106.hp2 HG01256.hp1 HG02602.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03579.hp2 HG03834.hp2 NA18963.hp2 NA18992.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0114 others(15): Show a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0114 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0071 a0001c0001t0002g0106 a0001c0001t0002g0128 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0157	18	170	0.1059	-37	c.-35 others(46): Show c.-354_-318delAGGCTGGCGGCCGGCGCGGCCGGGGGCGGGGCGGGG C	STK3	ENSG00000104375.17	transcript	ENST00000419617.7	protein_coding		170		chr8	TogoVar
STK4_chr20_44961512_45085021	44966383	CCCACCGC others(30): Show CCCACCGCGCCACAAGACTCACGCCCGAACCACGTGAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0226 a0001c0001t0025g0226	1	328	0.0031	-37	c.-18 others(46): Show c.-185_-149delCCACCGCGCCACAAGACTCACGCCCGAACCACGTGA T	STK4	ENSG00000101109.13	transcript	ENST00000372806.8	protein_coding		128		chr20	TogoVar
STX17_chr9_99901654_99979534	99967336	TATTTGGA others(30): Show TATTTGGATTTTTTTTTTCTGGAAAGTAGATTCATTTG	T T	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0180 a0001c0001t0032g0180	1	294	0.0034	-37	c.583 others(52): Show c.583-316_583-280delATTTGGATTTTTTTTTTCTGGAAAGTAGAT TCATTTG	STX17	ENSG00000136874.11	transcript	ENST00000259400.11	protein_coding	6/7			chr9	TogoVar
STYX_chr14_52725166_52779989	52758916	ATGGACTT others(30): Show ATGGACTTTATGTTTTATATATTGTTTTTATTATTTCG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	370	0.0027	-37	c.432 others(52): Show c.432-765_432-729delTGGACTTTATGTTTTATATATTGTTTTTAT TATTTCG	STYX	ENSG00000198252.12	transcript	ENST00000354586.5	protein_coding	8/10			chr14	TogoVar
SUCO_chr1_172528150_172616833	172571703	GCCCCGCC others(30): Show GCCCCGCCGCCCCGTCTGGGATGTGAGGAGCGCCTCTA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02451.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0118 a0001c0001t0008g0219 a0001c0001t0008g0118 a0001c0001t0008g0219	2	340	0.0059	-37	c.104 others(55): Show c.1049+977_1049+1013delCGCCGCCCCGTCTGGGATGTGAGGAGC GCCTCTACCC	SUCO	ENSG00000094975.15	transcript	ENST00000263688.4	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
SULF2_chr20_47652406_47790481	47745391	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03098.hp1 HG02572.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0198 a0001c0001t0001g0087 a0001c0001t0001g0198	2	364	0.0055	-37	c.176 others(54): Show c.176-8486_176-8450delATATATATATATATATATTTTTTTTTTT TTTTTTTTT	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47745393	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02451.hp1 HG02723.hp1 others(8): Show HG01261.hp2 HG02451.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03139.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0089 a0001c0001t0001g0179 a0001c0001t0001g0180 others(8): Show a0001c0001t0001g0089 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0002t0001g0185 a0001c0002t0001g0186	11	364	0.0302	-37	c.176 others(54): Show c.176-8488_176-8452delATATATATATATATATATATTTTTTTTT TTTTTTTTT	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47745395	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp2 HG03041.hp1 others(2): Show HG02145.hp1 HG02572.hp2 HG03041.hp1 HG03540.hp2 NA18940.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0003c0022 a0001c0001 a0003c0005 a0003c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0003c0005t0011 a0003c0022t0001	a0001c0001t0001g0168 a0001c0001t0002g0250 a0001c0001t0005g0008 others(2): Show a0001c0001t0001g0168 a0001c0001t0002g0250 a0001c0001t0005g0008 a0003c0005t0011g0004 a0003c0022t0001g0189	5	364	0.0137	-37	c.176 others(54): Show c.176-8490_176-8454delATATATATATATATATATATATTTTTTT TTTTTTTTT	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47745397	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02155.hp1 HG02698.hp1 others(10): Show HG02015.hp2 HG02155.hp1 HG02698.hp1 HG03831.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18972.hp2 NA18975.hp1 NA19057.hp1 NA19064.hp2 NA19074.hp1 NA19091.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0010 a0001c0001 a0001c0002 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0002t0001 a0001c0002t0007 a0004c0010t0004	a0001c0001t0001g0057 a0001c0001t0001g0103 a0001c0001t0001g0119 others(10): Show a0001c0001t0001g0057 a0001c0001t0001g0103 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0002g0224 a0001c0001t0002g0261 a0001c0001t0005g0018 a0001c0001t0006g0236 a0001c0001t0016g0267 a0001c0002t0001g0033 a0001c0002t0001g0038 a0001c0002t0007g0099 a0004c0010t0004g0146	13	364	0.0357	-37	c.176 others(54): Show c.176-8492_176-8456delATATATATATATATATATATATATTTTT TTTTTTTTT	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47745399	AAAAAAAA others(30): Show AAAAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03927.hp2 HG02896.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0187 a0001c0002t0003g0343 a0001c0002t0001g0187 a0001c0002t0003g0343	2	364	0.0055	-37	c.176 others(54): Show c.176-8494_176-8458delATATATATATATATATATATATATATTT TTTTTTTTT	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47745401	AAAAAAAA others(30): Show AAAAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	364	0.0028	-37	c.176 others(54): Show c.176-8496_176-8460delATATATATATATATATATATATATATAT TTTTTTTTT	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20			chr20	TogoVar
SULT4A1_chr22_43819509_43867513	43822748	TGTGTGTG others(30): Show TGTGTGTGTGTGTGTGTGTGTCAGTGCTATGGCAAGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01099.hp2 HG01106.hp2 others(1): Show HG00741.hp1 HG01099.hp2 HG01106.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0162 a0001c0001t0001g0172 a0001c0001t0016g0182 others(1): Show a0001c0001t0001g0162 a0001c0001t0001g0172 a0001c0001t0016g0182 a0001c0001t0016g0183	4	386	0.0104	-37	c.32 others(48): Show c.3216_*3252delTTCTTGCCATAGCACTGACACACACACACACACA CAC	SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding		1760		chr22	TogoVar
SUN1_chr7_827476_879934	879711	TTAGAAAG others(30): Show TTAGAAAGAGATTCGCGTTCCTCCTTAGATGGAACTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0006 a0002c0002t0003g0006	1	418	0.0024	-37	c.63 others(48): Show c.6381_*6417delTAGAAAGAGATTCGCGTTCCTCCTTAGATGGAAC TAC	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding		4778		chr7	TogoVar
SUPT6H_chr17_28657205_28707679	28659220	AGGCAGAG others(30): Show AGGCAGAGGCGCTCCCCACTTCCCAGACGGGGCGGCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG03041.hp1 HG02717.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0001 a0001c0001t0001g0028	2	236	0.0085	-37	c.-31 others(48): Show c.-3153_-3117delGGCAGAGGCGCTCCCCACTTCCCAGACGGGGCGG CTG	SUPT6H	ENSG00000109111.15	transcript	ENST00000314616.11	protein_coding		2984		chr17	TogoVar
SVIL_chr10_29452338_29639971	29529889	AGCTGGGC others(30): Show AGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACT	A A	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0117 a0001c0117	a0001c0117t0001 a0001c0117t0001	a0001c0117t0001g0243 a0001c0117t0001g0243	1	290	0.0035	-37	c.210 others(52): Show c.2107-82_2107-46delAGTGCTGGGATTACAGGCGTGAGCCACCGT GCCCAGC	SVIL	ENSG00000197321.16	transcript	ENST00000355867.9	protein_coding	11/37			chr10	TogoVar
SWAP70_chr11_9659077_9757993	9671220	AATATATA others(30): Show AATATATAAAATATATTTATAAATATAAATATAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0093 a0001c0002t0011g0093	1	294	0.0034	-37	c.99+ others(52): Show c.99+6948_99+6984delTAAAATATATTTATAAATATAAATATAAAA ATATATA	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWI5_chr9_128271276_128293989	128291978	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01109.hp2 HG02109.hp1 others(11): Show HG00099.hp2 HG01109.hp2 HG02109.hp1 HG02559.hp1 HG02572.hp2 HG02647.hp1 HG02818.hp1 HG02886.hp2 HG02965.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03942.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0051 a0001c0001t0001g0222 a0001c0001t0001g0223 others(9): Show a0001c0001t0001g0051 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0002t0001g0049 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217	14	386	0.0363	-37	c.32 others(48): Show c.3263_*3299delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SWI5	ENSG00000175854.15	transcript	ENST00000418976.3	protein_coding		2990		chr9	TogoVar
SYN3_chr22_32502820_33063381	32620925	GGCCAGGC others(30): Show GGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCAC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01175.hp1 HG01496.hp2 others(34): Show HG00621.hp1 HG01175.hp1 HG01496.hp2 HG01884.hp1 HG02074.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18984.hp2 NA19043.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0031 a0001c0001t0038 a0001c0001t0045 a0001c0001t0059 a0001c0001t0063 a0001c0001t0074 a0001c0003t0004 a0001c0003t0005 a0001c0004t0017 a0001c0004t0036 a0001c0005t0029 a0001c0007t0080 a0002c0002t0004 a0002c0002t0005 a0002c0002t0011 a0002c0002t0022 a0002c0002t0023 a0002c0002t0050 a0002c0002t0071	a0001c0001t0001g0036 a0001c0001t0002g0007 a0001c0001t0003g0039 others(34): Show a0001c0001t0001g0036 a0001c0001t0002g0007 a0001c0001t0003g0039 a0001c0001t0003g0107 a0001c0001t0003g0125 a0001c0001t0005g0158 a0001c0001t0006g0138 a0001c0001t0010g0183 a0001c0001t0014g0083 a0001c0001t0016g0062 a0001c0001t0016g0145 a0001c0001t0019g0030 a0001c0001t0020g0022 a0001c0001t0021g0064 a0001c0001t0024g0065 a0001c0001t0031g0143 a0001c0001t0038g0038 a0001c0001t0045g0068 a0001c0001t0059g0078 a0001c0001t0063g0093 a0001c0001t0074g0071 a0001c0003t0004g0105 a0001c0003t0005g0099 a0001c0004t0017g0055 a0001c0004t0017g0095 a0001c0004t0036g0010 a0001c0005t0029g0116 a0001c0007t0080g0112 a0002c0002t0004g0111 a0002c0002t0004g0154 a0002c0002t0005g0089 a0002c0002t0005g0141 a0002c0002t0011g0166 a0002c0002t0022g0009 a0002c0002t0023g0119 a0002c0002t0050g0025 a0002c0002t0071g0155	37	184	0.2011	-37	c.712 others(56): Show c.712-24226_712-24190delGTGGATCATGAGGTCAGGAGTTCGAG ACCAGCCTGGC	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32780912	GCTTCCTT others(30): Show GCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02257.hp1 others(12): Show HG01884.hp2 HG02145.hp1 HG02257.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02895.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03540.hp2 HG03579.hp1 NA19030.hp2 NA19043.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0031 a0001c0001t0034 a0001c0001t0041 a0001c0001t0042 a0001c0003t0004 a0001c0003t0005 a0001c0003t0037 a0001c0004t0017 a0002c0002t0011 a0002c0002t0051	a0001c0001t0001g0097 a0001c0001t0002g0118 a0001c0001t0014g0101 others(12): Show a0001c0001t0001g0097 a0001c0001t0002g0118 a0001c0001t0014g0101 a0001c0001t0018g0106 a0001c0001t0019g0030 a0001c0001t0031g0143 a0001c0001t0034g0108 a0001c0001t0041g0096 a0001c0001t0042g0088 a0001c0003t0004g0105 a0001c0003t0005g0099 a0001c0003t0037g0103 a0001c0004t0017g0095 a0002c0002t0011g0102 a0002c0002t0051g0142	15	184	0.0815	-37	c.711 others(56): Show c.711+83966_711+84002delGAAGGAAGGAAGGAAAGGAAGGAAGG AAGGAAGGAAG	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYNE2_chr14_63848004_64231433	64138912	TTGTGTGT others(30): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATGGTG	T T	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0049 a0049	a0049c0067 a0049c0067	a0049c0067t0002 a0049c0067t0002	a0049c0067t0002g0107 a0049c0067t0002g0107	1	150	0.0067	-37	c.148 others(56): Show c.14843+957_14844-965delATGTATGGTGTGTGTGTGTGTGTGTG TGTGTGTGTGT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	79/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	64151437	AAAAAAAA others(30): Show AAAAAAAAAAGCTGGGATCCTTAGGCAAAGCAATTTTC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01516.hp1 HG04184.hp2 HG00741.hp1 HG01516.hp1 HG04184.hp2	a0001 a0003 a0001 a0003	a0001c0018 a0003c0002 a0001c0018 a0003c0002	a0001c0018t0001 a0003c0002t0001 a0001c0018t0001 a0003c0002t0001	a0001c0018t0001g0065 a0003c0002t0001g0005 a0003c0002t0001g0006 a0001c0018t0001g0065 a0003c0002t0001g0005 a0003c0002t0001g0006	3	150	0.0200	-37	c.156 others(58): Show c.15640-1080_15640-1044delGCTGGGATCCTTAGGCAAAGCAAT TTTCAAAAAAAAA	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	84/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYT1_chr12_78859774_79457008	78973925	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0034 a0001c0002t0019g0034	1	62	0.0161	-37	c.-21 others(56): Show c.-216-3872_-216-3836delAAAAAAAAAAAAATATATATATATAT ATATATATATA	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr12	TogoVar

Search by Variant

Search

Search Results (Total: 1847 hits)