Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
SLC45A4_chr8_141202174_141313288	141203284	A A	AGAGAGAG others(95): Show AGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACC GTGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGGAGAGAGGGAGAGA GGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0073 a0001c0003t0001g0073	1	188	0.0053	102	c.82 others(113): Show c.8287_*8288insCCCTCTCTCCCTCTCTCCTCTCTCCTCTCTCTCT CTCTCTCTCTCTCTCTCACGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCCACGGTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3889		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203284	A A	AGAGAGAG others(95): Show AGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACC GTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAG AGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0092 a0002c0001t0001g0092	1	188	0.0053	102	c.82 others(113): Show c.8287_*8288insCCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCCACGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCCACGGTCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3889		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203284	A A	AGAGAGAG others(95): Show AGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAG AGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0017 a0003c0012t0017	a0003c0012t0017g0177 a0003c0012t0017g0177	1	188	0.0053	102	c.82 others(113): Show c.8287_*8288insCCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCCACGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCCACGGTCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3889		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203284	A A	AGAGAGAG others(95): Show AGAGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAG AGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 NA19066.hp1 HG01952.hp1 NA19066.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0088 a0002c0001t0001g0152 a0002c0001t0001g0088 a0002c0001t0001g0152	2	188	0.0106	102	c.82 others(113): Show c.8287_*8288insCCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCCACGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CCACGGTCTCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3889		chr8	TogoVar
SLC66A2_chr18_79897420_79956653	79916119	C C	CCACGGTG others(95): Show CCACGGTGCTCTCATAGCCGCAGTGCTCCCGTACCCACGGTGCTCTCATA GCCGCAGTGCTCCCGTACCCTCCCATACCCACGGTGCTCCCGTACCCATG GCG	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0123 a0001c0001t0004g0123	1	352	0.0028	102	c.608 others(119): Show c.608+3064_608+3065insCGCCATGGGTACGGGAGCACCGTGGGTA TGGGAGGGTACGGGAGCACTGCGGCTATGAGAGCACCGTGGGTACGGGAG CACTGCGGCTATGAGAGCACCGTG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	5/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79952600	G G	GGGGTGAG others(95): Show GGGGTGAGGGGAGCGTGGGTGAGGAGTGAGGGGTGAGTGATGCGCGAGTG AAGGGTGAGGGGCGCCTGGGTGAGGGGTGAGGGGTGAGGGGCGCGCCGGT GAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG00140.hp2 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	352	0.0057	102	c.-11 others(113): Show c.-1120_-1119insTTCACCGGCGCGCCCCTCACCCCTCACCCCTCAC CCAGGCGCCCCTCACCCTTCACTCGCGCATCACTCACCCCTCACTCCTCA CCCACGCTCCCCTCACCC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		948		chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79952600	G G	GGGGTGAG others(95): Show GGGGTGAGGGGAGCGTGGGTGAGGGGTGAGGGGTGAGTGATGCGCGAGTG AAGGGTGAGGGGCGCCTGGGTGAGGGGTGAGGGGTGAGGGGCGCGCCGGT GAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp2 others(143): Show HG00099.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01069.hp2 HG01074.hp2 HG01109.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01978.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02735.hp2 HG02895.hp2 HG03017.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19055.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19090.hp2 NA20300.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0037 a0001c0001t0038 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0017 others(138): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0002g0006 a0001c0001t0002g0149 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0027 a0001c0001t0004g0029 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0128 a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0005g0026 a0001c0001t0005g0138 a0001c0001t0005g0145 a0001c0001t0006g0147 a0001c0001t0007g0031 a0001c0001t0007g0097 a0001c0001t0007g0135 a0001c0001t0007g0144 a0001c0001t0007g0146 a0001c0001t0007g0151 a0001c0001t0009g0088 a0001c0001t0009g0130 a0001c0001t0010g0163 a0001c0001t0013g0040 a0001c0001t0013g0049 a0001c0001t0013g0059 a0001c0001t0013g0117 a0001c0001t0016g0032 a0001c0001t0018g0099 a0001c0001t0018g0100 a0001c0001t0019g0055 a0001c0001t0019g0056 a0001c0001t0025g0014 a0001c0001t0027g0337 a0001c0001t0029g0092 a0001c0001t0030g0037 a0001c0001t0031g0022 a0001c0001t0032g0035 a0001c0001t0033g0044 a0001c0001t0037g0150 a0001c0001t0038g0127 a0003c0005t0001g0137	146	352	0.4148	102	c.-11 others(113): Show c.-1120_-1119insTTCACCGGCGCGCCCCTCACCCCTCACCCCTCAC CCAGGCGCCCCTCACCCTTCACTCGCGCATCACTCACCCCTCACCCCTCA CCCACGCTCCCCTCACCC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		948		chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79952600	G G	GGGGTGAG others(95): Show GGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGTGAGTGATGCGCGAGTG AAGGGTGAGGGGCGCCTGGGTGAGGGGTGAGGGGTGAGGGGCGCGCCGGT GAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	352	0.0028	102	c.-11 others(113): Show c.-1120_-1119insTTCACCGGCGCGCCCCTCACCCCTCACCCCTCAC CCAGGCGCCCCTCACCCTTCACTCGCGCATCACTCACCCCTCACCCCTCA CCCGCGCGCCCCTCACCC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		948		chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79952716	G G	GTGGGTGA others(95): Show GTGGGTGAGGGGTGAGGGGTGAGGGGCGCGCGGGTGAAGAGTGAGGGGAG CGCGGGTGAGGGGTGAGGCGTGAGTGATGCGCGAGTGAAGGGTGAGGGGC GCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0275 a0001c0001t0021g0275	1	352	0.0028	102	c.-12 others(113): Show c.-1236_-1235insGGCGCCCCTCACCCTTCACTCGCGCATCACTCAC GCCTCACCCCTCACCCGCGCTCCCCTCACTCTTCACCCGCGCGCCCCTCA CCCCTCACCCCTCACCCA	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		1064		chr18	TogoVar
SLC7A1_chr13_29504414_29600688	29558351	G G	GGGGGAGT others(95): Show GGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTG AATCTGAATGAGGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGAG TGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	330	0.0030	102	c.-11 others(121): Show c.-114-4492_-114-4491insTCACTCACATTCACTCCCCCCTCACT CACATTCACTCCCCCCTCATTCAGATTCACTCCCCCTCACTCACATTCAC TCCCCCCTCACTCACATTCACTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558520	A A	AGAATGTG others(95): Show AGAATGTGAGTGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGA GTGAGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGG AGT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0222 a0001c0002t0004g0222	1	330	0.0030	102	c.-11 others(121): Show c.-114-4661_-114-4660insACTCCCCCCTCACTCACATTCTCTCC CCCTCACTCACATTCTCTCCCCCTCACTCACATTCACTCCCCCTCACTCA CATTCACTCCCCCCTCACTCACATTC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558752	G G	GCAGAGTG others(95): Show GCAGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTGA ATGTGAGTGAGGGGGGAGTGAATGTGAATGAGGGGGAGAGAATGTGAGTG AGC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0265 a0001c0001t0014g0265	1	330	0.0030	102	c.-11 others(121): Show c.-114-4893_-114-4892insGCTCACTCACATTCTCTCCCCCTCAT TCACATTCACTCCCCCCTCACTCACATTCACTCCCCCTCACTCACATTCA CTCCCCCCTCATTCAGATTCACTCTG	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558891	A A	AGGGGGAG others(95): Show AGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGAGTGAGGGGGAGT GAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGT GAG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0158 a0001c0002t0009g0158	1	330	0.0030	102	c.-11 others(121): Show c.-114-5032_-114-5031insCTCACTCACATTCACTCCCCCTCACT CACATTCTCTCCCCCTCACTCACATTCACTCCCCCTCACTCACATTCACT CCCCCCTCACTCACATTCACTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559372	G G	GGGGGGAG others(95): Show GGGGGGAGTGAATGTGAGTGACGGGGAGTGAATGTGAGTGACGGGGAGTG AATGTGAGTGACGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGAGT GAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02698.hp2 HG01433.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0236 a0001c0001t0009g0302 a0001c0001t0001g0236 a0001c0001t0009g0302	2	330	0.0061	102	c.-11 others(121): Show c.-114-5513_-114-5512insGTCACTCACATTCACTCCCCCCTCAC TCACATTCACTCCCCGTCACTCACATTCACTCCCCGTCACTCACATTCAC TCCCCGTCACTCACATTCACTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC9A3_chr5_465456_529449	502844	T T	TGACACAG others(95): Show TGACACAGACGGGTGCTCAAAGCCGCCGTAACGACACAGACGGGCGCTGT GTTCCAGTGAAACTTTACCACTCACTACCAGTGAGGCCGAAAGCCGCCGT AAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01071.hp1 NA18942.hp2 HG00735.hp1 HG01071.hp1 NA18942.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0016 a0002c0002 a0007c0016	a0002c0002t0002 a0007c0016t0002 a0002c0002t0002 a0007c0016t0002	a0002c0002t0002g0148 a0002c0002t0002g0149 a0007c0016t0002g0017 a0002c0002t0002g0148 a0002c0002t0002g0149 a0007c0016t0002g0017	3	218	0.0138	102	c.212 others(121): Show c.212-10774_212-10773insGTTACGGCGGCTTTCGGCCTCACTGG TAGTGAGTGGTAAAGTTTCACTGGAACACAGCGCCCGTCTGTGTCGTTAC GGCGGCTTTGAGCACCCGTCTGTGTC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLIT2_chr4_20246905_20625561	20472629	T T	TATATATA others(95): Show TATATATATCGATATATATAGATATATCTATATATATCGATATATATAGA TATATCGATATATATAGATATATCTATATATATCGATATATATAGATATA TCG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0095 a0001c0001t0005g0095	1	230	0.0044	102	c.467 others(119): Show c.467+4825_467+4826insGATATATCTATATATATCGATATATATA GATATATCGATATATATAGATATATCTATATATATCGATATATATAGATA TATCGATATATATCGATATATATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472631	T T	TATATATC others(95): Show TATATATCGATATATCTAGATATATCGATATATATCGATATATCTAGATA TATCGATATATATCGATATATCTAGATATATCGATATATATAGATATATA TAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01175.hp2 HG01167.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0042 a0001c0001t0003g0043	2	230	0.0087	102	c.467 others(119): Show c.467+4822_467+4823insCTAGATATATCGATATATATCGATATAT CTAGATATATCGATATATATCGATATATCTAGATATATCGATATATATAG ATATATATAGATATATCGATATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMARCE1_chr17_40619962_40652818	40639348	C C	CCATGAAA others(95): Show CCATGAAAGGATTACAATAAGTTGGGAAAATCCAAACTCATATACCATAT CACAAAGCAATAACCTTAAAATAAATAAAAAAAACTAAAAATAAAGAAAT AAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0069 a0002c0005t0002g0069	1	402	0.0025	102	c.157 others(119): Show c.157-1777_157-1776insATTATTTCTTTATTTTTAGTTTTTTTTA TTTATTTTAAGGTTATTGCTTTGTGATATGGTATATGAGTTTGGATTTTC CCAACTTATTGTAATCCTTTCATG	SMARCE1	ENSG00000073584.20	transcript	ENST00000348513.12	protein_coding	4/10			chr17	TogoVar
SMOC2_chr6_168436184_168672992	168592649	C C	CGCCGAGC others(95): Show CGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCGTCTTTCTAGAGGA TCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGG ATG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01261.hp2 HG01496.hp1 others(1): Show HG00738.hp1 HG01261.hp2 HG01496.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0096 a0001c0002t0002g0024 a0001c0002t0002g0025 others(1): Show a0001c0001t0001g0096 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0027	4	180	0.0222	102	c.638 others(119): Show c.638-6167_638-6166insCGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCGTCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATGGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168592649	C C	CGCCGAGC others(95): Show CGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCGTCTTTCTAGAGGA TCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCGTCTTTCTAGAGG ATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03195.hp2 HG03579.hp1 others(1): Show HG01891.hp2 HG03195.hp2 HG03579.hp1 NA18522.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0012 others(1): Show a0001c0001 a0001c0002 a0002c0012 a0005c0010	a0001c0001t0001 a0001c0002t0002 a0002c0012t0010 others(1): Show a0001c0001t0001 a0001c0002t0002 a0002c0012t0010 a0005c0010t0001	a0001c0001t0001g0168 a0001c0002t0002g0038 a0002c0012t0010g0076 others(1): Show a0001c0001t0001g0168 a0001c0002t0002g0038 a0002c0012t0010g0076 a0005c0010t0001g0130	4	180	0.0222	102	c.638 others(119): Show c.638-6167_638-6166insCGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCGTCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTC ACGGGCGTCTTTCTAGAGGATGGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168592680	C C	CGGGCGTC others(95): Show CGGGCGTCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCT CAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	180	0.0056	102	c.638 others(119): Show c.638-6134_638-6133insGTCTTTCTAGAGGATCTCCGAGCTCCTC CTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCT CCTCCTTCCTGAGGCCTCATGGGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593006	C C	CGCCGAGC others(95): Show CGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCGTCTTTCTAGAGGA TCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGG ATG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0163 a0001c0001t0015g0163	1	180	0.0056	102	c.638 others(119): Show c.638-5812_638-5811insGCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCGTCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGATG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593363	C C	CGCCGAGC others(95): Show CGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCGTCTTTCTAGAGGA TCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGG ATG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	180	0.0056	102	c.638 others(119): Show c.638-5455_638-5454insGCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCGTCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGATG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594444	T T	TCCGAGCT others(95): Show TCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGAT CGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGA TGG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02970.hp2 others(1): Show HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0003g0169 others(1): Show a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0003g0169 a0001c0002t0002g0034	4	180	0.0222	102	c.638 others(119): Show c.638-4343_638-4342insAGCATCTTTCTAGAGGATCGCCGAGCTC CTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCT CCTCCTCCTTCCTGAGGCCTCACG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168668970	C C	CGTCCCCC others(95): Show CGTCCCCCTCCCCCACACCCTACGCCCCCCTCCCCCACGCCCCCCTCCCC CACACCCCAGGTCCCCCTCCCCAACACCCTGCATCCCCTCCCCCACGCCT GCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	180	0.0056	102	c.25 others(113): Show c.2532_*2533insGTCCCCCTCCCCCACACCCTACGCCCCCCTCCCC CACGCCCCCCTCCCCCACACCCCAGGTCCCCCTCCCCAACACCCTGCATC CCCTCCCCCACGCCTGCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding		979		chr6	TogoVar
SNED1_chr2_240993618_241100568	241052756	G G	GCCAAGCA others(95): Show GCCAAGCAGGGTACATGGGATGCTGGTGTCAGGCAGGTAAGGCCTGGGGG GCCCAAGCAGGGTACATGGGATGCCGGTGTCAGGCAGGTAAGGCCTGGGG GGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0009 a0009	a0009c0067 a0009c0067	a0009c0067t0028 a0009c0067t0028	a0009c0067t0028g0039 a0009c0067t0028g0039	1	344	0.0029	102	c.208 others(119): Show c.2084-309_2084-308insAAGGCCTGGGGGGCCCAAGCAGGGTACA TGGGATGCTGGTGTCAGGCAGGTAAGGCCTGGGGGGCCCAAGCAGGGTAC ATGGGATGCCGGTGTCAGGCAGGT	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	15/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNRPB_chr20_2456642_2475789	2475207	A A	AAAATGTA others(95): Show AAAATGTAAAGACCATTTACATTTTGTGTAAATGTAAATGTAAAGACCAT TTACATTTTGTGTAAATGTAAATGTAAAGACCATTTACATTTTGTGTAAA TGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02809.hp1 HG02723.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	374	0.0054	102	c.-45 others(113): Show c.-4518_-4517insACATTTACACAAAATGTAAATGGTCTTTACATTT ACATTTACACAAAATGTAAATGGTCTTTACATTTACATTTACACAAAATG TAAATGGTCTTTACATTT	SNRPB	ENSG00000125835.20	transcript	ENST00000381342.7	protein_coding		4419		chr20	TogoVar
SNTG2_chr2_945849_1372613	1221759	C C	CTCTCTTT others(95): Show CTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCT CTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCG CTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0098 a0002c0003t0001g0098	1	190	0.0053	102	c.719 others(121): Show c.719+12534_719+12535insTTGTCCCTCTCTGTCTCTGTCTCTCT CTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCT GTCTCTGTCTCTCTGTCGCTGTCTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOX18_chr20_64042582_64054639	64042762	A A	AGACGGGA others(95): Show AGACGGGACGGGGGTCGTGGGGGACGGGGCGGGGTCGTGGGGGACGGGGC GGGGTCGTGGGGGACGGGACGGGGGTCGTGGGGGACGGGGCGGGGTCGTG GGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG02451.hp2 HG02486.hp2 others(6): Show HG00733.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02630.hp2 HG02809.hp1 HG03540.hp1 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0002t0003g0015 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0002t0003g0015	9	352	0.0256	102	c.54 others(113): Show c.5403_*5404insCCCCACGACCCCGCCCCGTCCCCCACGACCCCCG TCCCGTCCCCCACGACCCCGCCCCGTCCCCCACGACCCCGCCCCGTCCCC CACGACCCCCGTCCCGTC	SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding		4819		chr20	TogoVar
SOX18_chr20_64042582_64054639	64042812	G G	GGGGTCGT others(95): Show GGGGTCGTGGGAGACGGGACGGGGGTCGTGGGGGACGGGGCGGGGTCGTG GGGGACGGGACGGGGGTCGTGGGGGACGGGACGGGGGTCGTGGGGGACGG GGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG02622.hp2 others(5): Show HG01891.hp2 HG02572.hp1 HG02622.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp2 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0002 a0001c0001t0001g0006	8	352	0.0227	102	c.53 others(113): Show c.5353_*5354insGCCCCGTCCCCCACGACCCCCGTCCCGTCCCCCA CGACCCCCGTCCCGTCCCCCACGACCCCGCCCCGTCCCCCACGACCCCCG TCCCGTCTCCCACGACCC	SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding		4769		chr20	TogoVar
SOX18_chr20_64042582_64054639	64042875	G G	GGGGTCGT others(95): Show GGGGTCGTGGGGGACGGGACGGGGGTCGTGGGGGACGGGGCGGGGGTCGT GGGGGACGGGGCGGGGTCGTGGGGGACGGGACGGGGGTCGTGGGGGACGG GGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02622.hp1 HG03453.hp1 others(1): Show HG02451.hp1 HG02622.hp1 HG03453.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	4	352	0.0114	102	c.52 others(113): Show c.5290_*5291insGCCCCGTCCCCCACGACCCCCGTCCCGTCCCCCA CGACCCCGCCCCGTCCCCCACGACCCCCGCCCCGTCCCCCACGACCCCCG TCCCGTCCCCCACGACCC	SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding		4706		chr20	TogoVar
SOX18_chr20_64042582_64054639	64042917	G G	GGGGGTCG others(95): Show GGGGGTCGTGGGGGACGGGGCGGGGTCGTGGGGGACGGGACGGGGGTCGT GGGGGACGGGGCGGGGTCGTGGGGGACGGGACGGGGGTCGTGGGGGACGG GGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02109.hp2 others(9): Show HG01109.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02615.hp1 HG02818.hp1 HG02886.hp2 HG02976.hp1 HG03041.hp1 HG03516.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0002 a0001c0001t0001g0006	12	352	0.0341	102	c.52 others(113): Show c.5248_*5249insGCCCCGTCCCCCACGACCCCCGTCCCGTCCCCCA CGACCCCGCCCCGTCCCCCACGACCCCCGTCCCGTCCCCCACGACCCCGC CCCGTCCCCCACGACCCC	SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding		4664		chr20	TogoVar
SPAAR_chr9_35904490_35916686	35906589	A A	ACCACCAC others(95): Show ACCACCACCACCACCCCCACCGCCACCATCCCCGCCACACCCCTCACCAC CTCCACCACCACCACCCCCACCGCCACCATCCCCGCCACACCCCTCACCA CCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	102	c.-32 others(113): Show c.-3283_-3282insCCACCACCACCACCCCCACCGCCACCATCCCCGC CACACCCCTCACCACCTCCACCACCACCACCCCCACCGCCACCATCCCCG CCACACCCCTCACCACCT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2900		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35906598	A A	ACCACCAC others(95): Show ACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCAC CCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCACCACCA CCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG02273.hp1 HG01993.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	420	0.0048	102	c.-32 others(113): Show c.-3274_-3273insCCACCACCCCCGCCACACCCCTCACCACCTCCAC CACCACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCA CCACCACCACCACCACCC	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2891		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35914071	T T	TGTGTGTG others(95): Show TGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAG TGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAG TGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	420	0.0024	102	c.33 others(113): Show c.3380_*3381insGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGTAGTGA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2386		chr9	TogoVar
SPAG16_chr2_213279464_214415501	213833476	A A	ATATATAA others(95): Show ATATATAATATATATATTATATATAATATATATAATATATATATTATATA TAATATATATAATATATATAATATATATATAATATATATATAATATATAT ATT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0005 a0005c0005t0001g0005	1	86	0.0116	102	c.107 others(123): Show c.1071-29009_1071-29008insTATATAATATATATATTATATATA ATATATATAATATATATATTATATATAATATATATAATATATATAATATA TATATAATATATATATAATATATATATT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15			chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATGATAT others(95): Show TATGATATATAATATATATATTATTATATAACATATGATATATAATATAT ATATTATTATATAACATATGATATATAATATATATATTATTATATAACAT ATG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0077 a0001c0006t0077	a0001c0006t0077g0156 a0001c0006t0077g0156	1	356	0.0028	102	c.-11 others(123): Show c.-112+29224_-112+29225insGATATATAATATATATATTATTAT ATAACATATGATATATAATATATATATTATTATATAACATATGATATATA ATATATATATTATTATATAACATATGAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TACACATA others(95): Show TACACATATATATATATATATATATACACATATATATATATATATATATA TACACATATATATATATATATATACACACATATATATATATATATATACA CAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0070	1	458	0.0022	102	c.294 others(117): Show c.294-615_294-614insCACATATATATATATATATATATACACATA TATATATATATATATATATACACATATATATATATATATATACACACATA TATATATATATATATACACACA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPPL2B_chr19_2323684_2360095	2347260	C C	CCCTCCAC others(95): Show CCCTCCACACACACTTACGCGCTCTCATTCGCCTGATTCCGTTCTCCTTC TCTCCACACACACTCACGCGCTCTCATTCGCCTGATTCCGTTCTCTCCCT CCA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0110 a0004c0012t0001g0110	1	414	0.0024	102	c.135 others(121): Show c.1354+1931_1354+1932insCTCCACACACACTTACGCGCTCTCAT TCGCCTGATTCCGTTCTCCTTCTCTCCACACACACTCACGCGCTCTCATT CGCCTGATTCCGTTCTCTCCCTCCAC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SRBD1_chr2_45383680_45616267	45586968	A A	ATATTAAA others(95): Show ATATTAAAATATTTAAAATTATTTTAAATTATAAATATTAAAATATTTAA AATTATTTTAAATTATAAATATTAAAATATTTAAAATTATTTTAAAATAT AAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01993.hp1 HG02148.hp1 others(2): Show HG01975.hp2 HG01993.hp1 HG02148.hp1 NA18906.hp1 NA18959.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0254 a0001c0001t0001g0264 a0001c0001t0001g0265 others(2): Show a0001c0001t0001g0254 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0003g0244 a0002c0002t0001g0102	5	358	0.0140	102	c.649 others(119): Show c.649-1195_649-1194insATTATATTTTAAAATAATTTTAAATATT TTAATATTTATAATTTAAAATAATTTTAAATATTTTAATATTTATAATTT AAAATAATTTTAAATATTTTAATA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45587138	T T	TATTTTAA others(95): Show TATTTTAAATATTTAATTATTTTAAATTATAAATATTAAAATATTTAAAA ATTTTTAAATATTTAATTATTTTAAAATATAAATATTAAAATATTTAAAA TTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0123 a0002c0008t0001g0123	1	358	0.0028	102	c.649 others(119): Show c.649-1365_649-1364insTAATTTTAAATATTTTAATATTTATATT TTAAAATAATTAAATATTTAAAAATTTTTAAATATTTTAATATTTATAAT TTAAAATAATTAAATATTTAAAAT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45587138	T T	TATTTTAA others(95): Show TATTTTAAATATTTAATTATTTTAAATTATAAATATTAAAATATTTAAAA ATTTTTAAATATTTAATTATTTTAAAATATAATTATTAAAATATTTAAAA TTA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0128 a0005c0007t0001g0128	1	358	0.0028	102	c.649 others(119): Show c.649-1365_649-1364insTAATTTTAAATATTTTAATAATTATATT TTAAAATAATTAAATATTTAAAAATTTTTAAATATTTTAATATTTATAAT TTAAAATAATTAAATATTTAAAAT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRFBP1_chr5_121956975_122033633	121961698	A A	AACGAACA others(95): Show AACGAACACACACACACACACACACACACACACACACACACACACACACA CACACACACACACACACACACACACACACACACACACACACACACACACA CAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 NA18985.hp2 HG02132.hp1 NA18985.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0002 a0002c0003t0002g0027 a0002c0003t0002g0002 a0002c0003t0002g0027	2	228	0.0088	102	c.-33 others(111): Show c.-335_-334insACGAACACACACACACACACACACACACACACACAC ACACACACACACACACACACACACACACACACACACACACACACACACAC ACACACACACACACAC	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding		276		chr5	TogoVar
ST3GAL3_chr1_43702536_43936159	43905656	G G	GTTCCCCT others(95): Show GTTCCCCTTCCTGCCACTCTTCCTCCCCCTCCTCCTGTTCCCCTTCCTGC CACTCTTCCTCCCCCTCCTCCTGTTCCCCTTCCTGCCACTCTTCCTCCCC CTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02615.hp2 others(5): Show HG01891.hp2 HG02145.hp2 HG02615.hp2 HG02809.hp1 HG02976.hp1 HG03195.hp1 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 others(5): Show a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273	8	274	0.0292	102	c.744 others(119): Show c.744+5929_744+5930insTTCCCCTTCCTGCCACTCTTCCTCCCCC TCCTCCTGTTCCCCTTCCTGCCACTCTTCCTCCCCCTCCTCCTGTTCCCC TTCCTGCCACTCTTCCTCCCCCTC	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11			chr1	TogoVar
STARD9_chr15_42570606_42725998	42712097	A A	ATATATAT others(95): Show ATATATATATATATATAAAATATATAATATATAATATATATAATATATAT AATATATTATATATAATATATATATTATATATTATATATTATATATATTA TAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0192 a0004c0005t0002g0192	1	210	0.0048	102	c.132 others(123): Show c.13285-4580_13285-4579insTATATATATATATATAAAATATAT AATATATAATATATATAATATATATAATATATTATATATAATATATATAT TATATATTATATATTATATATATTATAT	STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	26/32			chr15	TogoVar
STARD9_chr15_42570606_42725998	42712097	A A	ATATATAT others(95): Show ATATATATATATATATATAATATATAATATATAATATATATAATATATAT AATATATTATATATAATATATATATTATATATTATATATTATATATATTA TAT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0002 a0004c0021t0002	a0004c0021t0002g0134 a0004c0021t0002g0134	1	210	0.0048	102	c.132 others(123): Show c.13285-4580_13285-4579insTATATATATATATATATAATATAT AATATATAATATATATAATATATATAATATATTATATATAATATATATAT TATATATTATATATTATATATATTATAT	STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	26/32			chr15	TogoVar
STARD9_chr15_42570606_42725998	42712097	A A	ATATATAT others(95): Show ATATATATATATATATATATATATATAAAATATAAAATATAAATATATAA TATATATTATATATAATATATATTATATATATTATATATATAATATATAT ATT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0074 a0002c0002t0005g0074	1	210	0.0048	102	c.132 others(123): Show c.13285-4580_13285-4579insTATATATATATATATATATATATA TAAAATATAAAATATAAATATATAATATATATTATATATAATATATATTA TATATATTATATATATAATATATATATT	STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	26/32			chr15	TogoVar
STEAP1_chr7_90149469_90169827	90151420	A A	ATGTCTGT others(95): Show ATGTCTGTCTTAAAAACATCATTTTGACAATATTTCTTCTTGAAACTTAG GTAATTTTTTGCAGTCGTTTAAAATAAAAGTCTGACCATTCTTCTTTCGT AAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	102	c.-31 others(113): Show c.-3155_-3154insTGTCTGTCTTAAAAACATCATTTTGACAATATTT CTTCTTGAAACTTAGGTAATTTTTTGCAGTCGTTTAAAATAAAAGTCTGA CCATTCTTCTTTCGTAAG	STEAP1	ENSG00000164647.9	transcript	ENST00000297205.7	protein_coding		3048		chr7	TogoVar
STN1_chr10_103872569_103923184	103909390	G G	GTATATAT others(95): Show GTATATATATATGTATATATATGTATGTATATATATGTATATATATGTAT ATGTATGTATATATGTATATATATGTATATATGTATATATATGTATATAT GTA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0255 a0001c0002t0004g0255	1	382	0.0026	102	c.229 others(119): Show c.229+1136_229+1137insTACATATATACATATATATACATATATA CATATATATACATATATACATACATATACATATATATACATATATATACA TACATATATATACATATATATATA	STN1	ENSG00000107960.12	transcript	ENST00000224950.8	protein_coding	3/9			chr10	TogoVar
STN1_chr10_103872569_103923184	103909390	G G	GTATATAT others(95): Show GTATATATATATGTATATATGTATGTATATATATGTATATGTATGTATAT ATATGTATATATGTATATATATGTATATATGTATATATATGTATATATGT ATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00738.hp2 HG01069.hp1 others(23): Show HG00597.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG02040.hp2 HG02523.hp1 HG02602.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03225.hp2 HG03486.hp1 HG03669.hp1 NA18939.hp2 NA18959.hp1 NA18962.hp1 NA18968.hp2 NA18970.hp1 NA18975.hp2 NA18985.hp1 NA19003.hp2 NA19007.hp2 NA19067.hp2 NA19074.hp1 NA19087.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0042 others(2): Show a0001c0001t0003 a0001c0001t0022 a0001c0001t0042 a0001c0001t0043 a0001c0001t0069	a0001c0001t0003g0003 a0001c0001t0003g0011 a0001c0001t0003g0040 others(20): Show a0001c0001t0003g0003 a0001c0001t0003g0011 a0001c0001t0003g0040 a0001c0001t0003g0046 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0058 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0078 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0022g0081 a0001c0001t0022g0187 a0001c0001t0042g0093 a0001c0001t0043g0092 a0001c0001t0069g0316	26	382	0.0681	102	c.229 others(119): Show c.229+1136_229+1137insTATACATATATACATATATATACATATA TACATATATATACATATATACATATATATACATACATATACATATATATA CATACATATATACATATATATATA	STN1	ENSG00000107960.12	transcript	ENST00000224950.8	protein_coding	3/9			chr10	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)