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
SCGB2A2_chr11_62265158_62278160	62277853	T T	TCCCTCCC others(29): Show TCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	390	0.0026	36	c.48 others(47): Show c.4858_*4859insCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CC	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4694		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277883	C C	CCCCTCCC others(29): Show CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02965.hp1 HG06807.hp1 HG01109.hp2 HG02965.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	390	0.0077	36	c.48 others(47): Show c.4888_*4889insCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CT	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4724		chr11	TogoVar
SCHIP1_chr3_159268244_159902359	159668376	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	100	0.0100	36	c.64- others(53): Show c.64-96047_64-96046insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03017.hp2 HG03453.hp1 others(1): Show HG02257.hp2 HG03017.hp2 HG03453.hp1 HG03471.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0010c0012 a0002c0002 a0010c0012	a0002c0002t0219 a0010c0012t0089 a0010c0012t0092 others(1): Show a0002c0002t0219 a0010c0012t0089 a0010c0012t0092 a0010c0012t0095	a0002c0002t0219g0328 a0010c0012t0089g0285 a0010c0012t0092g0284 others(1): Show a0002c0002t0219g0328 a0010c0012t0089g0285 a0010c0012t0092g0284 a0010c0012t0095g0283	4	372	0.0108	36	c.354 others(51): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0171 a0001c0005t0011g0171	1	250	0.0040	36	c.-59 others(53): Show c.-59-5837_-59-5836insATATATATATATATATATATTTTTTTTT TTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0099 a0001c0005t0011g0099	1	250	0.0040	36	c.-59 others(53): Show c.-59-5837_-59-5836insATATATATATATATATATATATTTTTTT TTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38737798	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02615.hp1 HG03516.hp1 others(4): Show HG02132.hp1 HG02615.hp1 HG03516.hp1 NA18940.hp1 NA18950.hp1 NA19064.hp2 NA20752.hp2	a0001 a0029 a0001 a0029	a0001c0003 a0001c0008 a0001c0017 others(2): Show a0001c0003 a0001c0008 a0001c0017 a0001c0019 a0029c0047	a0001c0003t0001 a0001c0003t0002 a0001c0008t0001 others(3): Show a0001c0003t0001 a0001c0003t0002 a0001c0008t0001 a0001c0017t0002 a0001c0019t0001 a0029c0047t0001	a0001c0003t0001g0016 a0001c0003t0001g0039 a0001c0003t0002g0296 others(4): Show a0001c0003t0001g0016 a0001c0003t0001g0039 a0001c0003t0002g0296 a0001c0008t0001g0116 a0001c0017t0002g0285 a0001c0019t0001g0118 a0029c0047t0001g0107	7	372	0.0188	36	c.228 others(55): Show c.2280+1716_2280+1717insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38746063	G G	GTGTATAT others(29): Show GTGTATATATATATGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18942.hp2 NA19007.hp2 HG02015.hp2 NA18942.hp2 NA19007.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0002 a0002c0001t0001 a0002c0001t0002	a0002c0001t0001g0198 a0002c0001t0001g0233 a0002c0001t0002g0194 a0002c0001t0001g0198 a0002c0001t0001g0233 a0002c0001t0002g0194	3	372	0.0081	36	c.186 others(55): Show c.1868-3535_1868-3534insTATATATATATATATACACACACATA TATATATACA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38995799	G G	GTCTATCT others(29): Show GTCTATCTATCTATCTGTCTGTCTGTCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0246 a0001c0005t0001g0246	1	314	0.0032	36	c.-27 others(57): Show c.-279-35377_-279-35376insTAGATAGATAGACAGACAGACAGA TAGATAGATAGA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166072789	T T	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18953.hp2 NA18994.hp1 HG03453.hp2 NA18953.hp2 NA18994.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0032 a0002c0002t0009 a0001c0004t0032 a0002c0002t0009	a0001c0004t0032g0034 a0002c0002t0009g0311 a0002c0002t0009g0351 a0001c0004t0032g0034 a0002c0002t0009g0311 a0002c0002t0009g0351	3	356	0.0084	36	c.264 others(51): Show c.264+568_264+569insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	4/28			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166413981	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	394	0.0025	36	c.341 others(53): Show c.3415-861_3415-860insTATATATATATATATATATATATATATA TATATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166414103	T T	TTATATAT others(29): Show TTATATATAAATATATATAATATATTATATATGTAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18522.hp2 HG02647.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0053 a0001c0001t0004g0054	2	394	0.0051	36	c.341 others(53): Show c.3415-983_3415-982insTTTACATATATAATATATTATATATATT TATATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1288204	T T	TGTGTCCC others(29): Show TGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0009 a0009c0014t0001g0009	1	290	0.0035	36	c.166 others(53): Show c.1662+172_1662+173insCCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288210	T T	TCTGCTCC others(29): Show TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA19080.hp2 HG03688.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0002 a0002c0002t0001 a0002c0003t0002	a0002c0002t0001g0030 a0002c0003t0002g0081 a0002c0002t0001g0030 a0002c0003t0002g0081	2	290	0.0069	36	c.166 others(53): Show c.1662+190_1662+191insCCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288274	C C	CCCGTGTC others(29): Show CCCGTGTCTCTGCTCCGTCCCGTGTCCCCGCTCCATT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0061 a0002c0003t0002g0061	1	290	0.0035	36	c.166 others(53): Show c.1662+239_1662+240insGTGTCTCTGCTCCGTCCCGTGTCCCCGC TCCATTCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288318	C C	CCTGCTCC others(29): Show CCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02523.hp1 NA18747.hp2 others(1): Show HG00735.hp1 HG02523.hp1 NA18747.hp2 NA19070.hp2	a0001 a0026 a0001 a0026	a0001c0001 a0026c0041 a0001c0001 a0026c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0026c0041t0001	a0001c0001t0001g0162 a0001c0001t0002g0260 a0001c0001t0005g0226 others(1): Show a0001c0001t0001g0162 a0001c0001t0002g0260 a0001c0001t0005g0226 a0026c0041t0001g0261	4	290	0.0138	36	c.166 others(53): Show c.1662+303_1662+304insTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288347	C C	CCGTGTCC others(29): Show CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0003 a0010c0019t0003	a0010c0019t0003g0170 a0010c0019t0003g0170	1	290	0.0035	36	c.166 others(53): Show c.1662+311_1662+312insGTGTCCCTGCTCCGTCCCCCGTGTCTCT GCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288347	C C	CCGTGTCC others(29): Show CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0130 a0001c0012t0001g0130	1	290	0.0035	36	c.166 others(53): Show c.1662+311_1662+312insGTGTCCCTGCTCCGTCCCCCGTGTCTCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288409	C C	CTCTGCCC others(29): Show CTCTGCCCCGTCCCCCGTGTCCCTGCTCCGTCCCGTG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0049 a0002c0002t0001g0049	1	290	0.0035	36	c.166 others(53): Show c.1662+372_1662+373insTCTGCCCCGTCCCCCGTGTCCCTGCTCC GTCCCGTG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288410	C C	CCTGCTCC others(29): Show CCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19043.hp1 HG01884.hp2 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0113 a0002c0003t0004g0120 a0002c0003t0004g0113 a0002c0003t0004g0120	2	290	0.0069	36	c.166 others(53): Show c.1662+390_1662+391insTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288457	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0028 a0004c0005t0002g0028	1	290	0.0035	36	c.166 others(53): Show c.1662+421_1662+422insGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288457	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0074 a0002c0003t0002g0074	1	290	0.0035	36	c.166 others(53): Show c.1662+421_1662+422insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288549	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0251 a0001c0018t0001g0251	1	290	0.0035	36	c.166 others(53): Show c.1662+513_1662+514insGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288549	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA18522.hp1 HG02738.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0036 a0002c0003 a0001c0036 a0002c0003	a0001c0036t0006 a0002c0003t0001 a0001c0036t0006 a0002c0003t0001	a0001c0036t0006g0123 a0002c0003t0001g0018 a0001c0036t0006g0123 a0002c0003t0001g0018	2	290	0.0069	36	c.166 others(53): Show c.1662+513_1662+514insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288557	C C	CTCTGCTC others(29): Show CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	1	290	0.0035	36	c.166 others(53): Show c.1662+533_1662+534insGTGTCTCTGCTCCGTCCCCCGTGTCTGC TCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288569	C C	CCCCGTGT others(29): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0072 a0007c0006t0001g0072	1	290	0.0035	36	c.166 others(53): Show c.1662+563_1662+564insCCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288607	C C	CCCCGAGT others(29): Show CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0071 a0007c0006t0001g0071	1	290	0.0035	36	c.166 others(53): Show c.1662+574_1662+575insAGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288607	C C	CCCCGTGT others(29): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0110 a0002c0003t0001g0110	1	290	0.0035	36	c.166 others(53): Show c.1662+591_1662+592insGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288607	C C	CCCCGTGT others(29): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0083 a0002c0003t0002g0083	1	290	0.0035	36	c.166 others(53): Show c.1662+591_1662+592insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288607	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCAT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	290	0.0035	36	c.166 others(53): Show c.1662+571_1662+572insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCATC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288607	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02717.hp1 HG01891.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0237 a0001c0001t0001g0238	2	290	0.0069	36	c.166 others(53): Show c.1662+571_1662+572insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288627	C C	CCCCGTGT others(29): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0144 a0003c0004t0003g0144	1	290	0.0035	36	c.166 others(53): Show c.1662+603_1662+604insTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288653	C C	CTCTGCCC others(29): Show CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	290	0.0035	36	c.166 others(53): Show c.1662+621_1662+622insCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288701	C C	CCCCGTGT others(29): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0029 a0029	a0029c0025 a0029c0025	a0029c0025t0001 a0029c0025t0001	a0029c0025t0001g0256 a0029c0025t0001g0256	1	290	0.0035	36	c.166 others(53): Show c.1662+668_1662+669insTGTCTCTGCTCCGTCCCGTGTCCCTGCT CCGTCCCG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288701	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0029	1	290	0.0035	36	c.166 others(53): Show c.1662+665_1662+666insGTGTCTCTGCTCCATTCCCCGTGTCTCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288793	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0100 a0007c0006t0001g0100	1	290	0.0035	36	c.166 others(53): Show c.1662+757_1662+758insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288813	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18995.hp2 HG04204.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0068 a0002c0002t0001g0043 a0002c0002t0001g0068	2	290	0.0069	36	c.166 others(53): Show c.1662+777_1662+778insGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288813	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	290	0.0035	36	c.166 others(53): Show c.1662+777_1662+778insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288894	C C	CCTGCCCC others(29): Show CCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	290	0.0035	36	c.166 others(53): Show c.1662+861_1662+862insCCCGTCCCGTGTCCCTGCCCCGTCCCGT GTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288923	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCCCCGTCCCCCGAGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0144 a0003c0004t0003g0144	1	290	0.0035	36	c.166 others(53): Show c.1662+887_1662+888insGTGTCTCTGCCCCGTCCCCCGAGTCTCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288928	T T	TGTCTCTG others(29): Show TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	290	0.0035	36	c.166 others(53): Show c.1662+894_1662+895insTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288943	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0154 a0003c0004t0003g0154	1	290	0.0035	36	c.166 others(53): Show c.1662+907_1662+908insGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288943	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	290	0.0035	36	c.166 others(53): Show c.1662+907_1662+908insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289035	C C	CCCCGTGT others(29): Show CCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0010 a0004c0005t0010	a0004c0005t0010g0124 a0004c0005t0010g0124	1	290	0.0035	36	c.166 others(55): Show c.1662+1002_1662+1003insTGTCTCTGCCCCGTCCCGTGTCCCTG CCCCGTCCCG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289035	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0001 a0005c0017t0001	a0005c0017t0001g0282 a0005c0017t0001g0282	1	290	0.0035	36	c.166 others(54): Show c.1662+999_1662+1000insGTGTCTCTGCTCCGTCCCCCGTGTCTC TGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289073	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	290	0.0035	36	c.166 others(55): Show c.1662+1037_1662+1038insGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289073	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	290	0.0035	36	c.166 others(55): Show c.1662+1037_1662+1038insGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289073	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0001 a0005c0017t0001	a0005c0017t0001g0282 a0005c0017t0001g0282	1	290	0.0035	36	c.166 others(55): Show c.1662+1037_1662+1038insGTGTCTCTGCTCCGTCCCGTGTCTCT GTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289093	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	290	0.0035	36	c.166 others(55): Show c.1662+1057_1662+1058insGTGTCTCTGCCCCGTCCCCCGTGTCC CTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289187	C C	CCCCGTGT others(29): Show CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	290	0.0035	36	c.166 others(55): Show c.1663-1063_1663-1062insCCGTGTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 8848 hits)