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
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01515.hp2 HG01978.hp2 HG01123.hp1 HG01515.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0101 a0002c0002t0241 a0002c0002t0012 a0002c0002t0101 a0002c0002t0241	a0002c0002t0012g0293 a0002c0002t0101g0292 a0002c0002t0241g0294 a0002c0002t0012g0293 a0002c0002t0101g0292 a0002c0002t0241g0294	3	372	0.0081	34	c.354 others(49): Show c.354+706_354+707insTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01346.hp2 HG01496.hp1 others(11): Show HG00323.hp1 HG01346.hp2 HG01496.hp1 HG02258.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG06807.hp1 NA18942.hp2 NA18947.hp1 NA18966.hp1 NA19002.hp2 NA19066.hp1 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0010 others(11): Show a0002c0002t0001 a0002c0002t0006 a0002c0002t0010 a0002c0002t0017 a0002c0002t0028 a0002c0002t0039 a0002c0002t0045 a0002c0002t0086 a0002c0002t0122 a0002c0002t0142 a0002c0002t0215 a0002c0002t0216 a0002c0002t0238 a0002c0002t0239	a0002c0002t0001g0310 a0002c0002t0006g0308 a0002c0002t0010g0305 others(11): Show a0002c0002t0001g0310 a0002c0002t0006g0308 a0002c0002t0010g0305 a0002c0002t0017g0322 a0002c0002t0028g0311 a0002c0002t0039g0327 a0002c0002t0045g0320 a0002c0002t0086g0321 a0002c0002t0122g0334 a0002c0002t0142g0057 a0002c0002t0215g0307 a0002c0002t0216g0306 a0002c0002t0238g0240 a0002c0002t0239g0309	14	372	0.0376	34	c.354 others(49): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	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(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0102 a0001c0005t0011g0102	1	250	0.0040	34	c.-59 others(51): Show c.-59-5837_-59-5836insATATATATATATATATATTTTTTTTTTT TTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0011 a0002c0014t0011	a0002c0014t0011g0027 a0002c0014t0011g0027	1	250	0.0040	34	c.-59 others(51): Show c.-59-5837_-59-5836insATATATATATATATATATATTTTTTTTT TTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38737832	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG04228.hp1 NA18961.hp1 HG03710.hp1 HG04228.hp1 NA18961.hp1	a0004 a0005 a0004 a0005	a0004c0005 a0005c0013 a0004c0005 a0005c0013	a0004c0005t0001 a0005c0013t0001 a0004c0005t0001 a0005c0013t0001	a0004c0005t0001g0067 a0004c0005t0001g0068 a0005c0013t0001g0074 a0004c0005t0001g0067 a0004c0005t0001g0068 a0005c0013t0001g0074	3	372	0.0081	34	c.228 others(53): Show c.2280+1682_2280+1683insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38746063	G G	GTGTATAT others(27): Show GTGTATATATATATGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02523.hp1 HG02738.hp1 others(6): Show HG02257.hp2 HG02523.hp1 HG02738.hp1 NA18950.hp2 NA18960.hp1 NA18967.hp2 NA18981.hp1 NA19012.hp1 NA19088.hp1	a0002 a0002	a0002c0001 a0002c0023 a0002c0024 a0002c0001 a0002c0023 a0002c0024	a0002c0001t0001 a0002c0023t0001 a0002c0024t0001 a0002c0001t0001 a0002c0023t0001 a0002c0024t0001	a0002c0001t0001g0057 a0002c0001t0001g0064 a0002c0001t0001g0065 others(6): Show a0002c0001t0001g0057 a0002c0001t0001g0064 a0002c0001t0001g0065 a0002c0001t0001g0182 a0002c0001t0001g0195 a0002c0001t0001g0222 a0002c0001t0001g0348 a0002c0023t0001g0062 a0002c0024t0001g0180	9	372	0.0242	34	c.186 others(53): Show c.1868-3535_1868-3534insTATATATATATATACACACACATATA TATATACA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN2A_chr2_165234414_165397304	165291528	C C	CTTTCTTT others(27): Show CTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00733.hp2 others(9): Show HG00099.hp1 HG00438.hp2 HG00733.hp2 HG00738.hp1 HG02129.hp1 HG02698.hp1 HG02735.hp1 NA18944.hp2 NA18948.hp2 NA18953.hp2 NA18971.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011	a0001c0001t0002g0026 a0001c0001t0002g0128 a0001c0001t0002g0156 others(9): Show a0001c0001t0002g0026 a0001c0001t0002g0128 a0001c0001t0002g0156 a0001c0001t0002g0168 a0001c0001t0002g0181 a0001c0001t0002g0234 a0001c0001t0002g0242 a0001c0001t0002g0302 a0001c0001t0002g0334 a0001c0001t0009g0230 a0001c0001t0010g0165 a0001c0001t0011g0338	12	358	0.0335	34	c.-51 others(51): Show c.-51-4245_-51-4244insTTTCTTTTCTTTCTTTCTTTCTTTCTTT CTTCCT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCN3B_chr11_123624188_123659624	123632721	G G	GAGGTTGC others(27): Show GAGGTTGCAGTGAGCCGAGATCACACCACTGCACT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0039 a0002c0005t0039	a0002c0005t0039g0075 a0002c0005t0039g0075	1	450	0.0022	34	c.10 others(45): Show c.1044_*1077dupAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCT	SCN3B	ENSG00000166257.10	transcript	ENST00000299333.8	protein_coding	7/7	1421		chr11	TogoVar
SCN7A_chr2_166398573_166499249	166475121	C C	CATATATA others(27): Show CATATATACGTATATATATATATATATATATACGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02027.hp2 HG02738.hp1 others(1): Show HG01261.hp2 HG02027.hp2 HG02738.hp1 NA18964.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0016 a0001c0001 a0013c0016	a0001c0001t0001 a0001c0001t0003 a0013c0016t0035 others(1): Show a0001c0001t0001 a0001c0001t0003 a0013c0016t0035 a0013c0016t0036	a0001c0001t0001g0332 a0001c0001t0003g0330 a0013c0016t0035g0365 others(1): Show a0001c0001t0001g0332 a0001c0001t0003g0330 a0013c0016t0035g0365 a0013c0016t0036g0366	4	394	0.0102	34	c.235 others(49): Show c.235-778_235-777insACGTATATATATATATATATATATACGTAT ATAT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	3/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166475122	A A	ATATATAC others(27): Show ATATATACGTATATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01081.hp2 HG01358.hp2 others(5): Show HG01071.hp1 HG01081.hp2 HG01358.hp2 HG02135.hp2 HG03704.hp1 HG04184.hp1 HG04184.hp2 NA19091.hp1	a0001 a0022 a0001 a0022	a0001c0001 a0022c0025 a0001c0001 a0022c0025	a0001c0001t0001 a0001c0001t0003 a0001c0001t0034 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0034 a0022c0025t0003	a0001c0001t0001g0296 a0001c0001t0001g0326 a0001c0001t0001g0327 others(5): Show a0001c0001t0001g0296 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0003g0358 a0001c0001t0034g0338 a0022c0025t0003g0341	8	394	0.0203	34	c.235 others(49): Show c.235-779_235-778insCGTATATATATATATATATATATATACGTA TATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	3/25			chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1288275	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0131 a0001c0012t0001g0131	1	290	0.0035	34	c.166 others(51): Show c.1662+239_1662+240insGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288457	C C	CCGTGTCC others(27): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18975.hp1 NA18954.hp2 NA18975.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0008 a0006c0015t0008	a0006c0015t0008g0276 a0006c0015t0008g0277 a0006c0015t0008g0276 a0006c0015t0008g0277	2	290	0.0069	34	c.166 others(51): Show c.1662+421_1662+422insGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTC	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(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01256.hp1 HG00639.hp1 HG01256.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0210 a0001c0009t0001g0211 a0001c0009t0001g0210 a0001c0009t0001g0211	2	290	0.0069	34	c.166 others(51): Show c.1662+421_1662+422insGTGTCTCTGCCCCGTCCCGTGTCCCTGC TCCGTC	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(27): Show CCGTGTCTCTGCTCCGTCCCGAGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0001 a0005c0017t0001	a0005c0017t0001g0282 a0005c0017t0001g0282	1	290	0.0035	34	c.166 others(51): Show c.1662+421_1662+422insGTGTCTCTGCTCCGTCCCGAGTCTCTGC TCCGTC	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(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	290	0.0035	34	c.166 others(51): Show c.1662+421_1662+422insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTC	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(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	290	0.0035	34	c.166 others(51): Show c.1662+513_1662+514insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTC	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(27): Show CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01358.hp1 HG01255.hp2 HG01358.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0021 a0002c0003t0002g0024 a0002c0003t0002g0021 a0002c0003t0002g0024	2	290	0.0069	34	c.166 others(51): Show c.1662+533_1662+534insGTGTCTCTGCCCCGTCCCGTGTCTGCTC CGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288569	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp2 HG01261.hp2 others(1): Show HG00639.hp2 HG01070.hp2 HG01261.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0180 a0001c0001t0001g0181 others(1): Show a0001c0001t0001g0165 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0194	4	290	0.0138	34	c.166 others(51): Show c.1662+533_1662+534insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288569	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA18971.hp2 HG01517.hp2 NA18971.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0002c0003 a0001c0012 a0002c0003	a0001c0012t0001 a0002c0003t0002 a0001c0012t0001 a0002c0003t0002	a0001c0012t0001g0131 a0002c0003t0002g0064 a0001c0012t0001g0131 a0002c0003t0002g0064	2	290	0.0069	34	c.166 others(51): Show c.1662+533_1662+534insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTC	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(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03017.hp1 HG02071.hp2 HG03017.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0003 a0001c0001t0001 a0003c0004t0003	a0001c0001t0001g0193 a0003c0004t0003g0150 a0001c0001t0001g0193 a0003c0004t0003g0150	2	290	0.0069	34	c.166 others(51): Show c.1662+571_1662+572insGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTC	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(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0027 a0002c0003t0002g0027	1	290	0.0035	34	c.166 others(51): Show c.1662+571_1662+572insGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTC	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(27): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0029 a0029	a0029c0025 a0029c0025	a0029c0025t0001 a0029c0025t0001	a0029c0025t0001g0256 a0029c0025t0001g0256	1	290	0.0035	34	c.166 others(51): Show c.1662+571_1662+572insGTGTCTCTGCTCCGTCCCCCGTGTCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288627	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	290	0.0035	34	c.166 others(51): Show c.1662+591_1662+592insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTC	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(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	290	0.0035	34	c.166 others(51): Show c.1662+665_1662+666insGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288793	C C	CCGTGTCC others(27): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA19080.hp1 HG03654.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0177 a0001c0001t0005g0258 a0001c0001t0001g0177 a0001c0001t0005g0258	2	290	0.0069	34	c.166 others(51): Show c.1662+757_1662+758insGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTC	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(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0004 a0008c0007t0004	a0008c0007t0004g0286 a0008c0007t0004g0286	1	290	0.0035	34	c.166 others(51): Show c.1662+777_1662+778insGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTC	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(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02451.hp2 HG01975.hp2 HG02451.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0006 a0001c0001 a0007c0006	a0001c0001t0001 a0007c0006t0001 a0001c0001t0001 a0007c0006t0001	a0001c0001t0001g0204 a0007c0006t0001g0073 a0001c0001t0001g0204 a0007c0006t0001g0073	2	290	0.0069	34	c.166 others(51): Show c.1662+777_1662+778insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTC	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(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0021 a0002c0003t0002g0021	1	290	0.0035	34	c.166 others(51): Show c.1662+887_1662+888insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTC	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(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	290	0.0035	34	c.166 others(52): Show c.1662+999_1662+1000insGTGTCTCTGCTCCGTCCCGTGTCTCTG CCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289073	C C	CCGTGTCC others(27): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0088 a0002c0002t0001g0088	1	290	0.0035	34	c.166 others(53): Show c.1662+1037_1662+1038insGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGTC	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(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0007 a0006c0010t0007	a0006c0010t0007g0275 a0006c0010t0007g0275	1	290	0.0035	34	c.166 others(53): Show c.1662+1037_1662+1038insGTGTCTCTGCCCCGTCCCGTGTCCCT GCTCCGTC	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(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0068	1	290	0.0035	34	c.166 others(53): Show c.1662+1037_1662+1038insGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTC	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(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0026 a0026	a0026c0041 a0026c0041	a0026c0041t0001 a0026c0041t0001	a0026c0041t0001g0261 a0026c0041t0001g0261	1	290	0.0035	34	c.166 others(53): Show c.1662+1037_1662+1038insGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTC	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(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0072 a0007c0006t0001g0072	1	290	0.0035	34	c.166 others(53): Show c.1662+1057_1662+1058insGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289167	C C	CCCCGTGT others(27): Show CCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	290	0.0035	34	c.166 others(53): Show c.1663-1095_1663-1094insGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289167	C C	CCGTGTCC others(27): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0009 a0009c0014t0001g0009	1	290	0.0035	34	c.166 others(53): Show c.1663-1103_1663-1102insGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289167	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0002 a0005c0017t0002	a0005c0017t0002g0288 a0005c0017t0002g0288	1	290	0.0035	34	c.166 others(53): Show c.1663-1103_1663-1102insGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289225	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	290	0.0035	34	c.166 others(53): Show c.1663-1045_1663-1044insGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289225	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	290	0.0035	34	c.166 others(53): Show c.1663-1045_1663-1044insGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289263	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0088 a0002c0002t0001g0088	1	290	0.0035	34	c.166 others(53): Show c.1663-1007_1663-1006insGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289263	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02155.hp1 HG00639.hp1 HG02155.hp1	a0001 a0010 a0001 a0010	a0001c0009 a0010c0019 a0001c0009 a0010c0019	a0001c0009t0001 a0010c0019t0003 a0001c0009t0001 a0010c0019t0003	a0001c0009t0001g0211 a0010c0019t0003g0170 a0001c0009t0001g0211 a0010c0019t0003g0170	2	290	0.0069	34	c.166 others(53): Show c.1663-1007_1663-1006insGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289357	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0001 a0005c0017t0001	a0005c0017t0001g0282 a0005c0017t0001g0282	1	290	0.0035	34	c.166 others(51): Show c.1663-913_1663-912insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289395	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	290	0.0035	34	c.166 others(51): Show c.1663-875_1663-874insGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289395	C C	CCGTGTCT others(27): Show CCGTGTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	290	0.0035	34	c.166 others(51): Show c.1663-875_1663-874insGTGTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289471	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0028 a0028	a0028c0038 a0028c0038	a0028c0038t0003 a0028c0038t0003	a0028c0038t0003g0283 a0028c0038t0003g0283	1	290	0.0035	34	c.166 others(51): Show c.1663-799_1663-798insGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289480	T T	TGCTCCGT others(27): Show TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	290	0.0035	34	c.166 others(51): Show c.1663-791_1663-790insGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289727	C C	CCGTGTCC others(27): Show CCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0028 a0028	a0028c0038 a0028c0038	a0028c0038t0003 a0028c0038t0003	a0028c0038t0003g0283 a0028c0038t0003g0283	1	290	0.0035	34	c.166 others(51): Show c.1663-543_1663-542insGTGTCCCTGCCCCGTCCCGTGTCTCTGC CCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289747	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	290	0.0035	34	c.166 others(51): Show c.1663-523_1663-522insGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289785	C C	CCCCGTGT others(27): Show CCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0267 a0001c0001t0011g0267	1	290	0.0035	34	c.166 others(51): Show c.1663-478_1663-477insTGCTCCGTCCCGTGTCCCTGCTCCGTCC CGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289785	C C	CCGTGTCC others(27): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0001 a0005c0017t0001	a0005c0017t0001g0282 a0005c0017t0001g0282	1	290	0.0035	34	c.166 others(51): Show c.1663-485_1663-484insGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 7994 hits)