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 (≤).

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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
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(34): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	334	0.0030	41	c.61- others(58): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(34): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG03453.hp2 NA18945.hp1 others(2): Show HG02738.hp2 HG03453.hp2 NA18945.hp1 NA18955.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0103 a0001c0001t0002g0041 a0001c0001t0002g0120 others(2): Show a0001c0001t0001g0103 a0001c0001t0002g0041 a0001c0001t0002g0120 a0001c0001t0002g0135 a0001c0001t0002g0142	5	398	0.0126	41	c.-19 others(52): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDHAF3_chr7_97112698_97186763	97165220	G G	GAGCTGAT others(34): Show GAGCTGATGGGCGTGAATGGCTGTGGATCCAGGAGTGCGGGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	402	0.0025	41	c.175 others(60): Show c.175-15788_175-15787insGATGGGCGTGAATGGCTGTGGATCCA GGAGTGCGGGTAGCT	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3938645	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02886.hp2 HG02615.hp2 HG02886.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0016 a0002c0012t0016	a0002c0012t0016g0002 a0002c0012t0016g0003 a0002c0012t0016g0002 a0002c0012t0016g0003	2	116	0.0172	41	c.848 others(60): Show c.848-12263_848-12262insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEMA5A_chr5_9030033_9551075	9426431	A A	AATAAATA others(34): Show AATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0003 a0001c0002t0009g0003	1	134	0.0075	41	c.-78 others(60): Show c.-78+11324_-78+11325insATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SENP2_chr3_185581295_185638551	185631437	C C	CCACTCCC others(34): Show CCACTCCCCCTCTCCCCTCCCCTCCCTCCCTCCTCTCCCTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0234 a0002c0002t0234	a0002c0002t0234g0245 a0002c0002t0234g0245	1	360	0.0028	41	c.15 others(52): Show c.1594_*1595insACTCCCCCTCTCCCCTCCCCTCCCTCCCTCCTCT CCCTCTC	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	17/17	1595	INFO_REALIGN_3_PRIME	chr3	TogoVar
SEPTIN14_chr7_55788540_55867752	55830349	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0100 a0001c0001t0038g0100	1	390	0.0026	41	c.720 others(58): Show c.720+4075_720+4076insAAAAAAAAAAAAAAATATATATATATAT ATATATATATATA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	6/9			chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77484822	G G	GGGGTGAT others(34): Show GGGGTGATGGTAATATGGGTGATGGTGGTGATTGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp1 HG02630.hp2 others(5): Show HG02451.hp2 HG02559.hp1 HG02630.hp2 HG02818.hp2 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0017 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0017 a0002c0002t0045	a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0130 others(5): Show a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0007g0146 a0001c0001t0017g0140 a0002c0002t0045g0042	8	150	0.0533	41	c.913 others(58): Show c.913+2488_913+2489insGGTGATGGTAATATGGGTGATGGTGGTG ATTGTGGTGGTAG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484822	G G	GGGGTGAT others(34): Show GGGGTGATGGTAATATGGGTGATGGTGGTGATTGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG02818.hp2 others(4): Show HG02559.hp2 HG02630.hp2 HG02818.hp2 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0023 a0001c0001t0054 others(2): Show a0001c0001t0002 a0001c0001t0023 a0001c0001t0054 a0001c0001t0056 a0002c0002t0009	a0001c0001t0002g0077 a0001c0001t0002g0155 a0001c0001t0023g0066 others(4): Show a0001c0001t0002g0077 a0001c0001t0002g0155 a0001c0001t0023g0066 a0001c0001t0023g0068 a0001c0001t0054g0073 a0001c0001t0056g0075 a0002c0002t0009g0136	7	158	0.0443	41	c.859 others(58): Show c.859+2488_859+2489insGGTGATGGTAATATGGGTGATGGTGGTG ATTGTGGTGGTAG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERPINB5_chr18_63471958_63510085	63503755	T T	TTTTTTTG others(34): Show TTTTTTTGTTTATTTTTTTATTTATTTTAAGTCCTCCCTGAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0020 a0003c0009t0020	a0003c0009t0020g0252 a0003c0009t0020g0252	1	410	0.0024	41	c.35 others(48): Show c.35_*36insTTTTGTTTATTTTTTTATTTATTTTAAGTCCTCCCTGA CTT	SERPINB5	ENSG00000206075.14	transcript	ENST00000382771.9	protein_coding	7/7	36	INFO_REALIGN_3_PRIME	chr18	TogoVar
SESN3_chr11_95160513_95236202	95167475	C C	CCCCATAT others(34): Show CCCCATATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0070 a0001c0002t0047g0070	1	392	0.0026	41	c.57 others(52): Show c.5779_*5780insATATATATATATATATATATATATATATATATAT ATATGGG	SESN3	ENSG00000149212.12	transcript	ENST00000536441.7	protein_coding	10/10	5779		chr11	TogoVar
SESTD1_chr2_179096678_179269832	179237103	A A	AAGGGACA others(34): Show AAGGGACAAATGAAATTATTTTCTAATAATTTACATTATTAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01167.hp2 HG02300.hp1 others(1): Show HG00323.hp1 HG01167.hp2 HG02300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0135 a0001c0001t0015g0136 a0001c0001t0015g0137 others(1): Show a0001c0001t0015g0135 a0001c0001t0015g0136 a0001c0001t0015g0137 a0001c0001t0015g0138	4	274	0.0146	41	c.-26 others(60): Show c.-26+27395_-26+27396insGTAATAATGTAAATTATTAGAAAATA ATTTCATTTGTCCCT	SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	1/17			chr2	TogoVar
SETX_chr9_132256356_132359986	132269956	G G	GTGTGAGA others(34): Show GTGTGAGACACAGGTGGACTCTAGAATGACTCAGCATCCTCA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18962.hp2 NA18963.hp2 others(5): Show NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18982.hp2 NA18998.hp2 NA19010.hp2 NA19057.hp1	a0008 a0008	a0008c0008 a0008c0045 a0008c0008 a0008c0045	a0008c0008t0001 a0008c0008t0029 a0008c0045t0001 a0008c0008t0001 a0008c0008t0029 a0008c0045t0001	a0008c0008t0001g0082 a0008c0008t0001g0191 a0008c0008t0001g0193 others(5): Show a0008c0008t0001g0082 a0008c0008t0001g0191 a0008c0008t0001g0193 a0008c0008t0001g0195 a0008c0008t0001g0196 a0008c0008t0001g0235 a0008c0008t0029g0192 a0008c0045t0001g0194	8	362	0.0221	41	c.720 others(58): Show c.7200-295_7200-255dupTGAGGATGCTGAGTCATTCTAGAGTCCA CCTGTGTCTCACA	SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding	24/25			chr9	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0261 a0001c0001t0019g0261	1	344	0.0029	41	c.495 others(56): Show c.495+274_495+275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SF3B3_chr16_70518816_70582668	70532357	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA19085.hp2 HG03239.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0063 a0001c0001t0002g0064	2	342	0.0059	41	c.571 others(56): Show c.571-112_571-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	SF3B3	ENSG00000189091.13	transcript	ENST00000302516.10	protein_coding	4/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAAAAGAA others(34): Show GAAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0232 a0001c0001t0004g0232	1	250	0.0040	41	c.286 others(60): Show c.286-24983_286-24982insTTCTTTCTTTCTTTCTCTCTCTCTCT CTCTTTCTTTCTTTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGSM1_chr22_24801211_24932578	24900408	T T	TTTCTTTC others(34): Show TTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0117 a0001c0001t0006g0117	1	338	0.0030	41	c.261 others(60): Show c.2611-1425_2611-1424insTTCTTTCTTTCTTTCTTTCTTTTTCT TTCTTTCTTTCTTTC	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	19/24			chr22	TogoVar
SGSM2_chr17_2332501_2386054	2338789	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0209 a0002c0002t0003g0209	1	422	0.0024	41	c.57+ others(56): Show c.57+1044_57+1045insTATATATATATATATATATATATATATATA TATATATATAT	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	1/23			chr17	TogoVar
SGTA_chr19_2749715_2788273	2772916	A A	ACCGAGGG others(34): Show ACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0173 a0001c0007t0004g0173	1	396	0.0025	41	c.-23 others(58): Show c.-23-3826_-23-3825insAGTCCCTGCCGTGTGGCCGCGTCACCCA CCTCTGCCCTCGG	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2772981	A A	AGCCACAC others(34): Show AGCCACACGGCAGGGACTCCGAGGGCAGAGGTGGGTGACGCG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	396	0.0025	41	c.-23 others(58): Show c.-23-3931_-23-3891dupCGCGTCACCCACCTCTGCCCTCGGAGTC CCTGCCGTGTGGC	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2773121	A A	ACCGAGGG others(34): Show ACCGAGGGCAGAGGTGGGCGACGCGGCCACACGGCAGGGACT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0173 a0001c0007t0004g0173	1	396	0.0025	41	c.-23 others(58): Show c.-23-4031_-23-4030insAGTCCCTGCCGTGTGGCCGCGTCGCCCA CCTCTGCCCTCGG	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2773257	A A	ATGGGTGA others(34): Show ATGGGTGACGCGGCCACACGGCGGGGACACCGAGGGCAGAGG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	396	0.0025	41	c.-23 others(58): Show c.-23-4167_-23-4166insCCTCTGCCCTCGGTGTCCCCGCCGTGTG GCCGCGTCACCCA	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2773521	G G	GGGCAGGG others(34): Show GGGCAGGGACTCCGAGGGCAGAGGTGGGCGACGCGGCCACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0173 a0001c0007t0004g0173	1	396	0.0025	41	c.-23 others(58): Show c.-23-4431_-23-4430insGTGTGGCCGCGTCGCCCACCTCTGCCCT CGGAGTCCCTGCC	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2773562	C C	CGGCAGGG others(34): Show CGGCAGGGACTCCGAGGGCAGAGGTGGGCGACGCGGCCACAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0174 a0001c0007t0003g0174	1	396	0.0025	41	c.-23 others(58): Show c.-23-4472_-23-4471insCTGTGGCCGCGTCGCCCACCTCTGCCCT CGGAGTCCCTGCC	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SH2D1A_chrX_124341563_124378160	124350231	T T	TTATATAA others(34): Show TTATATAATATTATATAATATATAATATATAAATATATATTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02273.hp1 NA18980.hp1 others(1): Show HG00408.hp1 HG02273.hp1 NA18980.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0232 a0001c0001t0001g0268 a0001c0001t0001g0269 others(1): Show a0001c0001t0001g0232 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0005g0246	4	318	0.0126	41	c.137 others(58): Show c.137+3580_137+3620dupTAATATTATATAATATATAATATATAAA TATATATTATATA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SH3D19_chr4_151115281_151330605	151236505	T T	TGCACCAA others(34): Show TGCACCAATCAGCACTCTGTGTCTAGCTAAAGGATTGTAAAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0094 a0001c0001t0004g0094	1	282	0.0036	41	c.113 others(60): Show c.113-10460_113-10420dupGTTTACAATCCTTTAGCTAGACACAG AGTGCTGATTGGTGC	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	1/19			chr4	TogoVar
SH3TC1_chr4_8194290_8246103	8211427	C C	CTCTCCCT others(34): Show CTCTCCCTCCCTCTCCACCCGCCCCCGCACCGTTTTCTCCCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00558.hp1 others(49): Show HG00280.hp1 HG00408.hp2 HG00558.hp1 HG00673.hp2 HG01109.hp2 HG01123.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01934.hp1 HG01943.hp2 HG01981.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02148.hp2 HG02572.hp2 HG02723.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03492.hp1 HG03688.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18906.hp1 NA18950.hp1 NA18954.hp2 NA18959.hp1 NA18969.hp2 NA18982.hp2 NA18984.hp1 NA19000.hp2 NA19007.hp2 NA19087.hp2 NA19090.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0008 others(3): Show a0001 a0002 a0008 a0011 a0016 a0040	a0001c0001 a0001c0002 a0001c0017 others(14): Show a0001c0001 a0001c0002 a0001c0017 a0001c0020 a0001c0025 a0001c0055 a0002c0003 a0002c0004 a0002c0005 a0002c0006 a0002c0037 a0002c0052 a0002c0063 a0008c0026 a0011c0024 a0016c0071 a0040c0070	a0001c0001t0001 a0001c0002t0001 a0001c0017t0001 others(14): Show a0001c0001t0001 a0001c0002t0001 a0001c0017t0001 a0001c0020t0001 a0001c0025t0001 a0001c0055t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0002c0006t0001 a0002c0037t0001 a0002c0052t0001 a0002c0063t0001 a0008c0026t0001 a0011c0024t0001 a0016c0071t0001 a0040c0070t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(46): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0291 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0322 a0001c0001t0001g0337 a0001c0001t0001g0351 a0001c0001t0001g0356 a0001c0002t0001g0012 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0017t0001g0300 a0001c0020t0001g0221 a0001c0025t0001g0354 a0001c0055t0001g0293 a0002c0003t0002g0009 a0002c0003t0002g0292 a0002c0003t0002g0308 a0002c0004t0001g0010 a0002c0004t0001g0055 a0002c0004t0001g0132 a0002c0004t0001g0225 a0002c0004t0001g0287 a0002c0004t0001g0323 a0002c0005t0001g0166 a0002c0006t0001g0175 a0002c0006t0001g0176 a0002c0006t0001g0348 a0002c0037t0001g0214 a0002c0052t0001g0247 a0002c0063t0001g0270 a0008c0026t0001g0234 a0008c0026t0001g0236 a0011c0024t0001g0290 a0011c0024t0001g0324 a0016c0071t0001g0011 a0040c0070t0001g0028	52	374	0.1390	41	c.248 others(58): Show c.248-1258_248-1218dupACCCGCCCCCGCACCGTTTTCTCCCTTC TCCCTCCCTCTCC	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3YL1_chr2_213144_269032	235585	C C	CGGGCCAG others(34): Show CGGGCCAGGGGAGGCAGCAGCACGGGCCAGGGGAGGCAGCAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	360	0.0028	41	c.292 others(58): Show c.292-1314_292-1313insATGCTGCCTCCCCTGGCCCGTGCTGCTG CCTCCCCTGGCCC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding	4/9			chr2	TogoVar
SHCBP1L_chr1_182894865_182958166	182924701	G G	GAAAGGAA others(34): Show GAAAGGAAAGGAAAGGAAAGGAAGGGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0065 a0001c0003t0001g0065	1	302	0.0033	41	c.118 others(60): Show c.1182+4945_1182+4946insTCTTTCTTTCTTTCTTCCCTTCCTTT CCTTTCCTTTCCTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHISAL1_chr22_44238665_44317951	44261077	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0074 a0001c0074	a0001c0074t0001 a0001c0074t0001	a0001c0074t0001g0362 a0001c0074t0001g0362	1	380	0.0026	41	c.600 others(60): Show c.600-11393_600-11392insTATATATATATATATATATATATATA TATATATATATATAT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44302810	A A	AGGCAGCA others(34): Show AGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0216 a0001c0216	a0001c0216t0002 a0001c0216t0002	a0001c0216t0002g0270 a0001c0216t0002g0270	1	380	0.0026	41	c.-32 others(58): Show c.-32-1874_-32-1834dupCTCCTCACCGCACCCACCCCAGGGCCTT TGCCCCTGCTGCC	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHLD1_chr20_5745401_5869395	5764139	A A	ATATATAT others(34): Show ATATATATATATATATATTTATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0318 a0001c0002t0005g0318	1	328	0.0031	41	c.-4- others(56): Show c.-4-8723_-4-8722insTATATATATATATATATTTATATATATATA TATATATTTTT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	1/2			chr20	TogoVar
SHQ1_chr3_72744277_72853445	72765557	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0201 a0002c0002t0001g0201	1	222	0.0045	41	c.118 others(62): Show c.1182-14722_1182-14721insAAAAAAAAATATATATATATATAT ATATATATATATATATA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SIGIRR_chr11_400716_419999	400990	C C	CCCCCGCC others(34): Show CCCCCGCCCCGCTCACCACCCCCGCCCCCGCTCACCCGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0037 a0007c0014t0001g0037	1	242	0.0041	41	c.49 others(52): Show c.4905_*4906insTGAGCGGGTGAGCGGGGGCGGGGGTGGTGAGCGG GGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4725		chr11	TogoVar
SIGIRR_chr11_400716_419999	401675	C C	CCGGCCCC others(34): Show CCGGCCCCGCTCACACCCCGGCCCTCCGCTCCACGCCCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	242	0.0041	41	c.42 others(52): Show c.4220_*4221insTGGGGGGCGTGGAGCGGAGGGCCGGGGTGTGAGC GGGGCCG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4040		chr11	TogoVar
SIGIRR_chr11_400716_419999	411270	C C	CGGGGGGG others(34): Show CGGGGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGGG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00735.hp2 HG01099.hp2 others(19): Show HG00423.hp2 HG00735.hp2 HG01099.hp2 HG01109.hp1 HG01258.hp2 HG01358.hp2 HG01981.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02165.hp2 HG02723.hp2 HG03834.hp1 HG04228.hp1 NA18747.hp2 NA18951.hp1 NA18971.hp1 NA18974.hp2 NA18986.hp1 NA19030.hp2 NA19065.hp2 NA19087.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0003c0007t0001 a0001c0001t0001 a0001c0001t0003 a0003c0007t0001	a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0051 others(19): Show a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0117 a0001c0001t0001g0135 a0001c0001t0001g0177 a0001c0001t0003g0110 a0003c0007t0001g0100	22	242	0.0909	41	c.-15 others(60): Show c.-153-1244_-153-1243insCCCGACTGCATTCAGACATGGTCAGA GCTGGGCACCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIK3_chr11_116838402_117103428	116917827	G G	GAAAGGAA others(34): Show GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG02055.hp2 HG02258.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0013 a0006c0008t0013	a0006c0008t0013g0274 a0006c0008t0013g0277 a0006c0008t0013g0274 a0006c0008t0013g0277	2	366	0.0055	41	c.616 others(58): Show c.616+9391_616+9392insTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	4/24			chr11	TogoVar
SIM2_chr21_36694115_36754917	36736859	T T	TGTCTTTC others(34): Show TGTCTTTCCTCCCTCCCTCCCTTTCTTCTTTCTTTCTCTTTC	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	410	0.0024	41	c.851 others(58): Show c.851-4858_851-4857insGTCTTTCCTCCCTCCCTCCCTTTCTTCT TTCTTTCTCTTTC	SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	7/10			chr21	TogoVar
SKA3_chr13_21148595_21181552	21175870	C C	CGTGAGTG others(34): Show CGTGAGTGAGAAAAAAGTCACTATATGTGTAAAGTATTGTGT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	378	0.0027	41	c.103 others(56): Show c.103+464_103+504dupACACAATACTTTACACATATAGTGACTTTT TTCTCACTCAC	SKA3	ENSG00000165480.16	transcript	ENST00000314759.6	protein_coding	1/8			chr13	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0208 a0003c0006t0001g0208	1	292	0.0034	41	c.46+ others(58): Show c.46+16551_46+16552insATATATATATATATATTTTTTTTTTTTT TTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	292	0.0034	41	c.46+ others(58): Show c.46+16551_46+16552insATATATATATATATATATATATATATAT ATTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SLC10A6_chr4_86818468_86854384	86837304	A A	AGGAAGGA others(34): Show AGGAAGGAGGGAGGGAGGGAGGGAGGAAGAGGAAGGAAGTAG	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	350	0.0029	41	c.378 others(58): Show c.378-3881_378-3880insCTACTTCCTTCCTCTTCCTCCCTCCCTC CCTCCCTCCTTCC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC12A7_chr5_1045384_1117063	1070335	C C	CATCACAC others(34): Show CATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0003 a0002c0012t0003	a0002c0012t0003g0075 a0002c0012t0003g0075	1	118	0.0085	41	c.224 others(60): Show c.2241+3297_2241+3298insACCGTGTGCTGGGGGCTCACTGGGGG CTGCATAAGTGTGAT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071973	G G	GGCATCTC others(34): Show GGCATCTCACTTAACGCAGCCCCCAGTGAGCCCCCAGCACAC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0010 a0002c0016t0010	a0002c0016t0010g0082 a0002c0016t0010g0082	1	118	0.0085	41	c.224 others(60): Show c.2241+1659_2241+1660insGTGTGCTGGGGGCTCACTGGGGGCTG CGTTAAGTGAGATGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072043	C C	CCCCCAGT others(34): Show CCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0024 a0001c0010t0005g0024	1	118	0.0085	41	c.224 others(60): Show c.2241+1549_2241+1589dupCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072315	C C	CCCCCAGT others(34): Show CCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0015 a0002c0015t0015	a0002c0015t0015g0085 a0002c0015t0015g0085	1	118	0.0085	41	c.224 others(60): Show c.2241+1317_2241+1318insCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072326	C C	CCCCCAGT others(34): Show CCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0025 a0001c0010t0005g0025	1	118	0.0085	41	c.224 others(60): Show c.2241+1306_2241+1307insCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072352	C C	CATCACAC others(34): Show CATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0018 a0001c0003t0017g0018	1	118	0.0085	41	c.224 others(60): Show c.2241+1280_2241+1281insACCGTGTGCTGGGGGCTCACTGGGGG CTGCATAAGTGTGAT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072941	G G	GAGCCCCC others(34): Show GAGCCCCCAGTGAGCCGCCAGCACACGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0027 a0002c0015t0001g0027	1	118	0.0085	41	c.224 others(58): Show c.2241+691_2241+692insGCATAAGTGTGATGCCGTGTGCTGGCGG CTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073081	C C	CCCCCAGT others(34): Show CCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0059 a0001c0014t0003g0059	1	118	0.0085	41	c.224 others(58): Show c.2241+511_2241+551dupCTGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar

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Search Results (Total: 2600 hits)