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
SCNN1B_chr16_23297302_23386294	23365620	A A	AGAAAGAA others(31): Show AGAAAGAAAGAAGAGAGAGAGAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	306	0.0033	38	c.777 others(55): Show c.777-2236_777-2235insGAAAGAAAGAAGAGAGAGAGAGAAAGAA AGAAAGAAAG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	4/12			chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23379168	G G	GCCAGCCA others(31): Show GCCAGCCATCCTCCACCCATTCATCCTCCATTCTCCCAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	306	0.0033	38	c.146 others(55): Show c.1466+426_1466+427insTCCATTCTCCCACCCAGCCATCCTCCAC CCATTCATCC	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1288190	C C	CCCGCTCC others(31): Show CCCGCTCCATTCCCTGTGTCTCTGCCCCGTCCCGTGTCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0028 a0028	a0028c0038 a0028c0038	a0028c0038t0003 a0028c0038t0003	a0028c0038t0003g0283 a0028c0038t0003g0283	1	290	0.0035	38	c.166 others(55): Show c.1662+177_1662+178insCCCGTCCCGTGTCTCCGCTCCATTCCCT GTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288233	T T	TCCGTCCC others(31): Show TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0111 a0002c0003t0004g0111	1	290	0.0035	38	c.166 others(55): Show c.1662+221_1662+222insCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288240	C C	CGTGTCCC others(31): Show CGTGTCCCTGCTCCGTCCCGTGTCCCCGCTCCATTCCCT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02155.hp1 HG02165.hp1 others(2): Show HG02071.hp1 HG02155.hp1 HG02165.hp1 NA18970.hp2 NA18980.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0018 a0003c0004 others(1): Show a0001c0001 a0001c0018 a0003c0004 a0010c0019	a0001c0001t0001 a0001c0018t0001 a0003c0004t0003 others(1): Show a0001c0001t0001 a0001c0018t0001 a0003c0004t0003 a0010c0019t0003	a0001c0001t0001g0252 a0001c0018t0001g0251 a0003c0004t0003g0171 others(2): Show a0001c0001t0001g0252 a0001c0018t0001g0251 a0003c0004t0003g0171 a0003c0004t0003g0172 a0010c0019t0003g0170	5	290	0.0172	38	c.166 others(55): Show c.1662+208_1662+209insCCTGCTCCGTCCCGTGTCCCCGCTCCAT TCCCTGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288347	C C	CCCCGTGT others(31): Show CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT	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	38	c.166 others(55): Show c.1662+331_1662+332insCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288442	T T	TGTCTCTG others(31): Show TGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0145 a0003c0004t0003g0145	1	290	0.0035	38	c.166 others(55): Show c.1662+413_1662+414insCCCGTCCCGTGTCTCTGCCCCGTCCCCC GAGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288451	T T	TCCGTCCC others(31): Show TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0134 a0003c0004t0003g0134	1	290	0.0035	38	c.166 others(55): Show c.1662+421_1662+422insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288475	T T	TCCCGTGT others(31): Show TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	290	0.0035	38	c.166 others(55): Show c.1662+451_1662+452insCCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288621	T T	TCCGTCCC others(31): Show TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03831.hp1 HG02970.hp1 HG03831.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0007 a0002c0002 a0008c0007	a0002c0002t0001 a0008c0007t0004 a0002c0002t0001 a0008c0007t0004	a0002c0002t0001g0055 a0008c0007t0004g0285 a0002c0002t0001g0055 a0008c0007t0004g0285	2	290	0.0069	38	c.166 others(55): Show c.1662+591_1662+592insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288737	T T	TCCCGTGT others(31): Show TCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0154 a0003c0004t0003g0154	1	290	0.0035	38	c.166 others(55): Show c.1662+708_1662+709insCCTGCCCCGTCCCGTGTCTCTGCCCCGT CCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288849	T T	TCCCGTGT others(31): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0061 a0002c0003t0002g0061	1	290	0.0035	38	c.166 others(55): Show c.1662+843_1662+844insCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289040	A A	AGTCTCTG others(31): Show AGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	290	0.0035	38	c.166 others(57): Show c.1662+1019_1662+1020insCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289067	T T	TCCGTCCC others(31): Show TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0063 a0002c0003t0001g0063	1	290	0.0035	38	c.166 others(57): Show c.1662+1037_1662+1038insGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289147	T T	TCCCCCGT others(31): Show TCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0044 a0002c0003t0001g0044	1	290	0.0035	38	c.166 others(57): Show c.1662+1113_1662+1114insCCGTGTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289205	T T	TCCCGTGT others(31): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0069 a0002c0003t0001g0069	1	290	0.0035	38	c.166 others(57): Show c.1663-1045_1663-1044insGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289243	T T	TCCCGTGT others(31): Show TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0258 a0001c0001t0005g0258	1	290	0.0035	38	c.166 others(57): Show c.1663-1015_1663-1014insCCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289243	T T	TCCCGTGT others(31): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0015 a0015	a0015c0037 a0015c0037	a0015c0037t0001 a0015c0037t0001	a0015c0037t0001g0090 a0015c0037t0001g0090	1	290	0.0035	38	c.166 others(57): Show c.1663-1007_1663-1006insGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289299	T T	TCCCGTGT others(31): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0028 a0004c0005t0002g0028	1	290	0.0035	38	c.166 others(55): Show c.1663-959_1663-958insTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289451	T T	TCCCGTGT others(31): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	290	0.0035	38	c.166 others(55): Show c.1663-807_1663-806insTCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289471	C C	CCCCGTGT others(31): Show CCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0064 a0002c0003t0002g0064	1	290	0.0035	38	c.166 others(55): Show c.1663-787_1663-786insCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289494	T T	TGTCTCTG others(31): Show TGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0122 a0002c0003t0002g0122	1	290	0.0035	38	c.166 others(55): Show c.1663-761_1663-760insGTGTCTCTGCCCCGTCCCCCGAGTCTCT GCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289516	T T	TCCCTGCT others(31): Show TCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	290	0.0069	38	c.166 others(55): Show c.1663-754_1663-753insCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289566	T T	TGTCTCTG others(31): Show TGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	290	0.0035	38	c.166 others(55): Show c.1663-702_1663-701insTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCCCGAGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289570	C C	CCTGCTCC others(31): Show CCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0072 a0007c0006t0001g0072	1	290	0.0035	38	c.166 others(55): Show c.1663-671_1663-670insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289647	T T	TCCGTCCC others(31): Show TCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0091 a0002c0003t0001g0091	1	290	0.0035	38	c.166 others(55): Show c.1663-617_1663-616insCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289651	T T	TCCCCCGT others(31): Show TCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	290	0.0035	38	c.166 others(55): Show c.1663-617_1663-616insCCGTGTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289707	T T	TCCCGTGT others(31): Show TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	290	0.0035	38	c.166 others(55): Show c.1663-556_1663-555insTCTGCCCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289803	T T	TCCCGTGT others(31): Show TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	290	0.0035	38	c.166 others(55): Show c.1663-455_1663-454insCCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289928	C C	CCCCGTGT others(31): Show CCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0099 a0002c0003t0002g0099	1	290	0.0035	38	c.166 others(55): Show c.1663-330_1663-329insCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289982	T T	TCCCGTGT others(31): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01928.hp2 HG01257.hp1 HG01928.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0012 a0002c0003t0002g0104 a0002c0003t0002g0012 a0002c0003t0002g0104	2	290	0.0069	38	c.166 others(55): Show c.1663-281_1663-280insTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289987	T T	TGTCTCTG others(31): Show TGTCTCTGCTCTGTCCCGTGTCCCTGCTCCGTCCCCCGA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	290	0.0035	38	c.166 others(55): Show c.1663-281_1663-280insTCTGCTCTGTCCCGTGTCCCTGCTCCGT CCCCCGAGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290036	T T	TCCCGTGT others(31): Show TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0028 a0028	a0028c0038 a0028c0038	a0028c0038t0003 a0028c0038t0003	a0028c0038t0003g0283 a0028c0038t0003g0283	1	290	0.0035	38	c.166 others(55): Show c.1663-227_1663-226insTCTGCCCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290077	T T	TGTCCCTG others(31): Show TGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG06807.hp2 HG02257.hp1 HG02451.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245	3	290	0.0103	38	c.166 others(55): Show c.1663-191_1663-190insCCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCCCGAGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290108	T T	TCCCGTGT others(31): Show TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0121 a0002c0003t0004g0121	1	290	0.0035	38	c.166 others(55): Show c.1663-150_1663-149insCCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290173	C C	CCTGCTCC others(31): Show CCTGCTCCCTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	290	0.0035	38	c.166 others(53): Show c.1663-91_1663-90insCTCCCGTGTCTCTGCCCCGTCCCCCGTGTC TCTGCTCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCT_chr11_621309_632181	628897	T T	TTTTCTTT others(31): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	411	0.0024	38	c.-17 others(49): Show c.-1755_-1754insGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAA GAAA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1717		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43216985	C C	CCCCCACC others(31): Show CCCCCACCCCGCCAGGTGTCACCTCTTTACCAACAGCTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19030.hp1 HG02109.hp2 NA19030.hp1	a0001 a0001	a0001c0012 a0001c0053 a0001c0012 a0001c0053	a0001c0012t0096 a0001c0053t0063 a0001c0012t0096 a0001c0053t0063	a0001c0012t0096g0277 a0001c0053t0063g0234 a0001c0012t0096g0277 a0001c0053t0063g0234	2	280	0.0071	38	c.189 others(57): Show c.1891+1232_1891+1269dupAAGCTGTTGGTAAAGAGGTGACACCT GGCGGGGTGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	15/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43216994	C C	CGCCAGGT others(31): Show CGCCAGGTGTCACCTCTTTACCAACAGCTTCCCCACCCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02622.hp2 HG02630.hp1 others(2): Show HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 NA20300.hp1	a0002 a0007 a0002 a0007	a0002c0025 a0007c0023 a0007c0041 a0002c0025 a0007c0023 a0007c0041	a0002c0025t0034 a0002c0025t0073 a0007c0023t0082 others(2): Show a0002c0025t0034 a0002c0025t0073 a0007c0023t0082 a0007c0023t0093 a0007c0041t0081	a0002c0025t0034g0018 a0002c0025t0073g0258 a0007c0023t0082g0073 others(2): Show a0002c0025t0034g0018 a0002c0025t0073g0258 a0007c0023t0082g0073 a0007c0023t0093g0268 a0007c0041t0081g0236	5	280	0.0179	38	c.189 others(57): Show c.1891+1260_1891+1261insAGGGTGGGGAAGCTGTTGGTAAAGAG GTGACACCTGGC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	15/21			chr22	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01071.hp1 HG02004.hp2 others(3): Show HG00280.hp2 HG01071.hp1 HG02004.hp2 HG02135.hp1 NA19005.hp2 NA19068.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0005 a0003c0006 a0001c0003 a0002c0005 a0003c0006	a0001c0003t0001 a0001c0003t0002 a0002c0005t0005 others(1): Show a0001c0003t0001 a0001c0003t0002 a0002c0005t0005 a0003c0006t0003	a0001c0003t0001g0016 a0001c0003t0001g0038 a0001c0003t0001g0059 others(3): Show a0001c0003t0001g0016 a0001c0003t0001g0038 a0001c0003t0001g0059 a0001c0003t0002g0107 a0002c0005t0005g0204 a0003c0006t0003g0188	6	334	0.0180	38	c.61- others(55): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	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(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03098.hp1 HG03041.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0124 a0001c0001t0002g0031 a0001c0001t0001g0124 a0001c0001t0002g0031	2	398	0.0050	38	c.-19 others(49): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDHAF4_chr6_70561930_70594569	70588842	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0131 a0001c0001t0020g0131	1	370	0.0027	38	c.13 others(47): Show c.132_*133insATATATATATATATATATATATATATATATATATAT AT	SDHAF4	ENSG00000154079.6	transcript	ENST00000370474.4	protein_coding	3/3	133	INFO_REALIGN_3_PRIME	chr6	TogoVar
SDHC_chr1_161309381_161368206	161339662	G G	GTTTTTTT others(31): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	330	0.0030	38	c.180 others(53): Show c.180-904_180-903insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3687056	A A	AACACACA others(31): Show AACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0036 a0001c0049t0036	a0001c0049t0036g0109 a0001c0049t0036g0109	1	116	0.0086	38	c.713 others(57): Show c.713+44958_713+44995dupACACACACACACACACACACACACAC ACACACACACAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3708269	C C	CACCTCCA others(31): Show CACCTCCAAGGTCCAGTTACCTCCCACCAGGCCCTCCAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00558.hp1 others(65): Show HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01243.hp1 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01934.hp1 HG01978.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03688.hp2 HG03710.hp2 HG04228.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp1	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0014 a0016 a0017 a0018 a0022 a0023 a0025 a0026 a0028 a0029 a0031 a0033 a0035	a0001c0002 a0001c0004 a0001c0005 others(52): Show a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0014 a0001c0032 a0001c0036 a0001c0038 a0001c0039 a0001c0046 a0001c0060 a0001c0061 a0001c0062 a0001c0064 a0001c0067 a0001c0088 a0001c0091 a0002c0009 a0002c0012 a0002c0013 a0002c0029 a0002c0030 a0002c0043 a0002c0053 a0002c0054 a0003c0001 a0003c0047 a0004c0055 a0004c0058 a0005c0003 a0005c0076 a0006c0044 a0008c0015 a0009c0079 a0009c0082 a0010c0019 a0010c0020 a0011c0021 a0011c0022 a0014c0083 a0016c0023 a0017c0024 a0018c0028 a0022c0050 a0023c0035 a0025c0070 a0026c0069 a0028c0052 a0029c0063 a0031c0074 a0033c0078 a0035c0018	a0001c0002t0002 a0001c0002t0040 a0001c0004t0001 others(61): Show a0001c0002t0002 a0001c0002t0040 a0001c0004t0001 a0001c0005t0051 a0001c0007t0003 a0001c0007t0021 a0001c0008t0004 a0001c0008t0007 a0001c0010t0002 a0001c0010t0060 a0001c0011t0008 a0001c0014t0018 a0001c0032t0058 a0001c0036t0033 a0001c0038t0013 a0001c0039t0050 a0001c0046t0022 a0001c0060t0041 a0001c0061t0031 a0001c0062t0053 a0001c0064t0006 a0001c0067t0068 a0001c0088t0009 a0001c0091t0010 a0002c0009t0004 a0002c0009t0056 a0002c0012t0016 a0002c0013t0015 a0002c0029t0005 a0002c0030t0034 a0002c0043t0035 a0002c0053t0067 a0002c0054t0002 a0003c0001t0003 a0003c0001t0059 a0003c0001t0063 a0003c0001t0066 a0003c0047t0038 a0004c0055t0055 a0004c0058t0012 a0005c0003t0003 a0005c0003t0052 a0005c0076t0003 a0006c0044t0001 a0008c0015t0017 a0009c0079t0054 a0009c0082t0001 a0010c0019t0074 a0010c0020t0070 a0011c0021t0073 a0011c0022t0072 a0014c0083t0044 a0016c0023t0030 a0017c0024t0061 a0018c0028t0049 a0022c0050t0019 a0023c0035t0005 a0025c0070t0026 a0026c0069t0069 a0028c0052t0032 a0029c0063t0007 a0031c0074t0042 a0033c0078t0001 a0035c0018t0071	a0001c0002t0002g0095 a0001c0002t0040g0084 a0001c0004t0001g0039 others(65): Show a0001c0002t0002g0095 a0001c0002t0040g0084 a0001c0004t0001g0039 a0001c0005t0051g0030 a0001c0007t0003g0033 a0001c0007t0021g0110 a0001c0008t0004g0096 a0001c0008t0007g0067 a0001c0010t0002g0085 a0001c0010t0060g0017 a0001c0011t0008g0028 a0001c0014t0018g0060 a0001c0014t0018g0062 a0001c0032t0058g0043 a0001c0036t0033g0116 a0001c0038t0013g0038 a0001c0039t0050g0022 a0001c0046t0022g0091 a0001c0060t0041g0080 a0001c0061t0031g0100 a0001c0062t0053g0042 a0001c0064t0006g0111 a0001c0067t0068g0001 a0001c0088t0009g0048 a0001c0091t0010g0055 a0002c0009t0004g0093 a0002c0009t0056g0044 a0002c0012t0016g0002 a0002c0012t0016g0003 a0002c0013t0015g0025 a0002c0029t0005g0094 a0002c0030t0034g0083 a0002c0043t0035g0079 a0002c0053t0067g0034 a0002c0054t0002g0101 a0003c0001t0003g0037 a0003c0001t0059g0024 a0003c0001t0063g0032 a0003c0001t0066g0041 a0003c0047t0038g0082 a0004c0055t0055g0021 a0004c0058t0012g0063 a0005c0003t0003g0069 a0005c0003t0003g0071 a0005c0003t0052g0070 a0005c0076t0003g0072 a0006c0044t0001g0020 a0008c0015t0017g0059 a0008c0015t0017g0066 a0009c0079t0054g0073 a0009c0082t0001g0076 a0010c0019t0074g0009 a0010c0020t0070g0008 a0011c0021t0073g0006 a0011c0022t0072g0007 a0014c0083t0044g0004 a0016c0023t0030g0113 a0017c0024t0061g0013 a0018c0028t0049g0035 a0022c0050t0019g0092 a0023c0035t0005g0058 a0025c0070t0026g0112 a0026c0069t0069g0064 a0028c0052t0032g0107 a0029c0063t0007g0106 a0031c0074t0042g0081 a0033c0078t0001g0074 a0035c0018t0071g0005	68	116	0.5862	38	c.713 others(57): Show c.713+66583_713+66620dupACCTCCAAGGTCCAGTTACCTCCCAC CAGGCCCTCCAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3708584	T T	TCCAGTTA others(31): Show TCCAGTTACCTCCCACCAGGCCCTCCATACCTCCAAGAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02622.hp1 HG02976.hp1 others(3): Show HG01109.hp2 HG02622.hp1 HG02976.hp1 HG03041.hp1 HG03209.hp2 NA18522.hp1	a0001 a0015 a0034 a0001 a0015 a0034	a0001c0048 a0001c0049 a0001c0071 others(3): Show a0001c0048 a0001c0049 a0001c0071 a0001c0087 a0015c0085 a0034c0081	a0001c0048t0001 a0001c0049t0036 a0001c0071t0057 others(3): Show a0001c0048t0001 a0001c0049t0036 a0001c0071t0057 a0001c0087t0009 a0015c0085t0043 a0034c0081t0008	a0001c0048t0001g0029 a0001c0049t0036g0109 a0001c0071t0057g0031 others(3): Show a0001c0048t0001g0029 a0001c0049t0036g0109 a0001c0071t0057g0031 a0001c0087t0009g0054 a0015c0085t0043g0010 a0034c0081t0008g0075	6	116	0.0517	38	c.713 others(57): Show c.713+66515_713+66516insACCCAGTTACCTCCCACCAGGCCCTC CATACCTCCAAG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3708659	G G	GTCCAGTT others(31): Show GTCCAGTTACCTCCCACCAGGCCCTCCATACCTCCAAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02622.hp1 HG02976.hp1 others(3): Show HG01109.hp2 HG02622.hp1 HG02976.hp1 HG03041.hp1 HG03209.hp2 NA18522.hp1	a0001 a0015 a0034 a0001 a0015 a0034	a0001c0048 a0001c0049 a0001c0071 others(3): Show a0001c0048 a0001c0049 a0001c0071 a0001c0087 a0015c0085 a0034c0081	a0001c0048t0001 a0001c0049t0036 a0001c0071t0057 others(3): Show a0001c0048t0001 a0001c0049t0036 a0001c0071t0057 a0001c0087t0009 a0015c0085t0043 a0034c0081t0008	a0001c0048t0001g0029 a0001c0049t0036g0109 a0001c0071t0057g0031 others(3): Show a0001c0048t0001g0029 a0001c0049t0036g0109 a0001c0071t0057g0031 a0001c0087t0009g0054 a0015c0085t0043g0010 a0034c0081t0008g0075	6	116	0.0517	38	c.713 others(57): Show c.713+66591_713+66592insATCCAGTTACCTCCCACCAGGCCCTC CATACCTCCAAG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3739090	T T	TTTATTTC others(31): Show TTTATTTCTGAACTTTAAATAGATCATCCCATTGCCTTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0060 a0001c0010t0060	a0001c0010t0060g0017 a0001c0010t0060g0017	1	116	0.0086	38	c.714 others(57): Show c.714-82358_714-82321dupTATTTCTGAACTTTAAATAGATCATC CCATTGCCTTCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEC23A_chr14_39026919_39108235	39058627	T T	TTCTTTCA others(31): Show TTCTTTCAATAAGCAAAATAATTATTAAATGTTTCCCAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0096 a0001c0003t0001g0096	1	366	0.0027	38	c.150 others(57): Show c.1505+3100_1505+3137dupCTGGGAAACATTTAATAATTATTTTG CTTATTGAAAGA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	13/19			chr14	TogoVar
SEL1L3_chr4_25742433_25867988	25746515	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02572.hp2 HG03017.hp2 others(1): Show HG00438.hp1 HG02572.hp2 HG03017.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0182 a0001c0001t0002g0148 a0001c0001t0003g0183 others(1): Show a0001c0001t0001g0182 a0001c0001t0002g0148 a0001c0001t0003g0183 a0001c0001t0003g0265	4	312	0.0128	38	c.19 others(49): Show c.1909_*1910insTTAAATATATATATATATATATATATATATATAT ATAT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding		917		chr4	TogoVar

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Search Results (Total: 5880 hits)