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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⚠️ 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
SCNN1D_chr1_1275436_1297025	1288255	TCCCGTGT others(85): Show TCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03490.hp2 NA18954.hp1 others(4): Show HG00621.hp2 HG03490.hp2 NA18954.hp1 NA18960.hp1 NA18969.hp2 NA18983.hp1 NA19064.hp2	a0002 a0019 a0002 a0019	a0002c0002 a0019c0026 a0002c0002 a0019c0026	a0002c0002t0001 a0019c0026t0001 a0002c0002t0001 a0019c0026t0001	a0002c0002t0001g0031 a0002c0002t0001g0059 a0002c0002t0001g0067 others(4): Show a0002c0002t0001g0031 a0002c0002t0001g0059 a0002c0002t0001g0067 a0002c0002t0001g0077 a0002c0002t0001g0086 a0002c0002t0001g0096 a0019c0026t0001g0014	7	290	0.0241	-92	c.166 others(109): Show c.1662+240_1662+331delCCGAGTCTCTGCTCCGTCCCGTGTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288757	CCGTGTCC others(85): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGT TCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	290	0.0035	-92	c.166 others(109): Show c.1662+722_1662+813delGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289234	TCTGCTCC others(85): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCC CGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0142 a0003c0004t0003g0142	1	290	0.0035	-92	c.166 others(110): Show c.1663-1024_1663-933delGTGTCTCTGCTCCGTCCCCCGTGTCCC TGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTG TCCCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289460	TCTGCCCC others(85): Show TCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01346.hp1 NA18961.hp1 others(1): Show HG01106.hp1 HG01346.hp1 NA18961.hp1 NA19057.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0003 a0001c0001t0001 a0003c0004t0003	a0001c0001t0001g0168 a0003c0004t0003g0004 a0003c0004t0003g0006 others(1): Show a0001c0001t0001g0168 a0003c0004t0003g0004 a0003c0004t0003g0006 a0003c0004t0003g0007	4	290	0.0138	-92	c.166 others(109): Show c.1663-806_1663-715delCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCCCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43280793	AGCTACCC others(85): Show AGCTACCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTCTTTGG CCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCC	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0015 a0001c0004t0016g0015	1	280	0.0036	-92	c.484 others(111): Show c.484+10161_484+10252delGGGAGGTGACAGGGTGACTGAGGAGG AGGTGACAGGAGGGTGGCCAAAGAGGGAGGTGACAGGAGGATGGCTGAGG GAGGTGACAGGGTAGC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281076	CCTTGGCC others(85): Show CCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCT TGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02559.hp1 HG02559.hp2 others(1): Show HG00408.hp2 HG02559.hp1 HG02559.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0002c0014 a0001c0004 a0002c0002 a0002c0014	a0001c0004t0004 a0002c0002t0001 a0002c0002t0031 others(1): Show a0001c0004t0004 a0002c0002t0001 a0002c0002t0031 a0002c0014t0078	a0001c0004t0004g0233 a0002c0002t0001g0205 a0002c0002t0031g0007 others(1): Show a0001c0004t0004g0233 a0002c0002t0001g0205 a0002c0002t0031g0007 a0002c0014t0078g0261	4	280	0.0143	-92	c.484 others(109): Show c.484+9878_484+9969delAGGTGACAGGATAGCTGAGGAGGAGATG ACAGAAGGGTGGCCAAGGGAGGTGACAGGGTGACTGAGGAGGAGGTGACA GGAGGGTGGCCAAG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281194	CCTTGGCC others(85): Show CCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCT TGGCCACCCTTCTGTCATCTCCTCCTCAGCTACCCTGTCACCT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 NA18983.hp1 HG02895.hp2 HG02897.hp1 NA18983.hp1	a0003 a0005 a0003 a0005	a0003c0001 a0005c0016 a0003c0001 a0005c0016	a0003c0001t0001 a0005c0016t0005 a0005c0016t0022 a0003c0001t0001 a0005c0016t0005 a0005c0016t0022	a0003c0001t0001g0155 a0005c0016t0005g0021 a0005c0016t0022g0020 a0003c0001t0001g0155 a0005c0016t0005g0021 a0005c0016t0022g0020	3	280	0.0107	-92	c.484 others(109): Show c.484+9760_484+9851delAGGTGACAGGGTAGCTGAGGAGGAGATG ACAGAAGGGTGGCCAAGGGAGGTGACAGGGTGACTGAGGAGGAGGTGACA GGAGGGTGGCCAAG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281345	AGTCACCC others(85): Show AGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGC TATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02976.hp1 NA18522.hp2 others(1): Show HG00597.hp1 HG02976.hp1 NA18522.hp2 NA18747.hp2	a0002 a0012 a0013 a0002 a0012 a0013	a0002c0002 a0002c0042 a0012c0032 others(1): Show a0002c0002 a0002c0042 a0012c0032 a0013c0057	a0002c0002t0001 a0002c0042t0012 a0012c0032t0002 others(1): Show a0002c0002t0001 a0002c0042t0012 a0012c0032t0002 a0013c0057t0077	a0002c0002t0001g0122 a0002c0042t0012g0246 a0012c0032t0002g0019 others(1): Show a0002c0002t0001g0122 a0002c0042t0012g0246 a0012c0032t0002g0019 a0013c0057t0077g0149	4	280	0.0143	-92	c.484 others(109): Show c.484+9609_484+9700delCAAGGGAGGTGACAGGAGGATGGCTGAG GGAGGTGACAGGATAGCTGAGGAGGAGATGACAGAAGGGTGGCCAAGGGA GGTGACAGGGTGAC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SDHA_chr5_213320_262082	259489	AGCTCCGC others(85): Show AGCTCCGCCTCCTGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAG AGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18981.hp2 NA18950.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0047 a0001c0001t0002g0005 a0001c0001t0002g0047	2	266	0.0075	-92	c.30 others(103): Show c.3070_*3161delGCTCCGCCTCCTGTCACAGCATTACCGTGTGAGC TCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGC ATTACCGT	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2408		chr5	TogoVar
SDHA_chr5_213320_262082	259937	AGCTCCGC others(85): Show AGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAG AGCATTACCGTGTGAGCTCCGCCTCCCCACAGAGCATTACCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG02602.hp1 others(10): Show HG00735.hp1 HG01069.hp2 HG02602.hp1 HG02698.hp1 HG02738.hp2 HG03490.hp2 NA18941.hp1 NA18943.hp2 NA18957.hp2 NA18968.hp1 NA18992.hp1 NA19058.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0008 others(7): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0001t0002g0070 a0001c0001t0003g0049 a0001c0001t0005g0001	13	266	0.0489	-92	c.35 others(103): Show c.3518_*3609delGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGC TCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCCACAGAGC ATTACCGT	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2856		chr5	TogoVar
SELENOT_chr3_150598321_150635436	150605456	AAGTAGTA others(85): Show AAGTAGTAAGTACTTCAGTTAAACTTTTGATACTTTGTTTTTCTTTGTTT TTAAGTACAGACCTGTCCCAAAAGTCTAATAATTTTCTTTTAC	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG04228.hp2 HG02602.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	2	380	0.0053	-92	c.137 others(109): Show c.137+1961_137+2052delAGTAAGTACTTCAGTTAAACTTTTGATA CTTTGTTTTTCTTTGTTTTTAAGTACAGACCTGTCCCAAAAGTCTAATAA TTTTCTTTTACAGT	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERPINF2_chr17_1737871_1760265	1741769	GACAGTGA others(85): Show GACAGTGAGGGTGGGAAGTGGCCCGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00558.hp1 others(34): Show HG00140.hp2 HG00280.hp2 HG00558.hp1 HG00609.hp2 HG00733.hp2 HG00738.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01346.hp2 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG02004.hp2 HG02129.hp2 HG02148.hp2 HG03209.hp2 HG03239.hp2 HG03491.hp2 NA18612.hp1 NA18940.hp2 NA18977.hp1 NA18979.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA19043.hp2 NA19084.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0003c0006 others(1): Show a0001c0001 a0003c0003 a0003c0006 a0003c0015	a0001c0001t0003 a0003c0003t0001 a0003c0003t0002 others(3): Show a0001c0001t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0006t0001 a0003c0015t0001	a0001c0001t0003g0055 a0003c0003t0001g0003 a0003c0003t0001g0007 others(23): Show a0001c0001t0003g0055 a0003c0003t0001g0003 a0003c0003t0001g0007 a0003c0003t0001g0015 a0003c0003t0001g0022 a0003c0003t0001g0027 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0114 a0003c0003t0001g0116 a0003c0003t0001g0120 a0003c0003t0001g0149 a0003c0003t0001g0150 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0002g0122 a0003c0003t0004g0007 a0003c0003t0004g0027 a0003c0003t0004g0047 a0003c0003t0004g0123 a0003c0006t0001g0003 a0003c0006t0001g0015 a0003c0006t0001g0127 a0003c0015t0001g0003	37	445	0.0832	-92	c.-11 others(103): Show c.-1143_-1052delACAGTGAGGGTGGGAAGTGGCCCGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCCGGAC	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		1101		chr17	TogoVar
SLC22A3_chr6_160343378_160457577	160456790	GGTGATGG others(85): Show GGTGATGGCGGTGGTAGTGGTAGTAATGATGATGATGGCGGTGGTGATGG TGATGATGGTGATGGTGGTGGAATGGTGGTGATGGTAATGGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0027	1	318	0.0031	-92	c.57 others(103): Show c.5735_*5826delGTGATGGCGGTGGTAGTGGTAGTAATGATGATGA TGGCGGTGGTGATGGTGATGATGGTGATGGTGGTGGAATGGTGGTGATGG TAATGGTA	SLC22A3	ENSG00000146477.6	transcript	ENST00000275300.3	protein_coding		4214		chr6	TogoVar
SLC26A3_chr7_107760469_107808223	107770149	CTTTCTTT others(85): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAAAAAAAAGGGGTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	436	0.0023	-92	c.206 others(111): Show c.2062+1813_2062+1904delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAACCCCTTTTTTTTTTTAAAAAAAAAAAAAAAA AAAAAAAAAAAAGAAA	SLC26A3	ENSG00000091138.13	transcript	ENST00000340010.10	protein_coding	18/20			chr7	TogoVar
SLC35F1_chr6_117902264_118322671	118101022	TAAAGCAC others(85): Show TAAAGCACAGAGCAGGAAGGTAGTGAAACAGAGTTGCCTGTTCAGATAGG AATTTTATGACATCTTTTAGGTCAGCAGCTCTATTTCTGTGCC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02145.hp2 HG01123.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0030 a0001c0001t0006g0052 a0001c0001t0006g0030 a0001c0001t0006g0052	2	182	0.0110	-92	c.174 others(111): Show c.174-53421_174-53330delAAGCACAGAGCAGGAAGGTAGTGAAA CAGAGTTGCCTGTTCAGATAGGAATTTTATGACATCTTTTAGGTCAGCAG CTCTATTTCTGTGCCA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC39A14_chr8_22362278_22427736	22396447	AGGGGGGG others(85): Show AGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03225.hp2 NA20752.hp1 HG02451.hp2 HG03225.hp2 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0007 a0001c0003 a0001c0004 a0001c0007	a0001c0003t0005 a0001c0004t0001 a0001c0007t0006 a0001c0003t0005 a0001c0004t0001 a0001c0007t0006	a0001c0003t0005g0046 a0001c0004t0001g0058 a0001c0007t0006g0290 a0001c0003t0005g0046 a0001c0004t0001g0058 a0001c0007t0006g0290	3	324	0.0093	-92	c.-15 others(109): Show c.-15-8247_-15-8156delGGGGGGGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGGGGGGGG	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC43A3_chr11_57401954_57432121	57403440	AGAAGAGG others(85): Show AGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAGG AAGAAGAGGAAGAAGAAAAGAAGAGGAAGAAGAGGAAGAAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02717.hp2 HG02886.hp1 others(2): Show HG00544.hp2 HG02717.hp2 HG02886.hp1 HG02922.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0005 a0001c0001t0009 a0001c0001t0026 others(1): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0026 a0001c0007t0009	a0001c0001t0005g0093 a0001c0001t0005g0134 a0001c0001t0009g0197 others(2): Show a0001c0001t0005g0093 a0001c0001t0005g0134 a0001c0001t0009g0197 a0001c0001t0026g0165 a0001c0007t0009g0022	5	330	0.0152	-92	c.42 others(103): Show c.4260_*4351delCTCTTCTTCCTCTTCTTCCTCTTCTTTTCTTCTT CCTCTTCTTCCTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCCTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3513		chr11	TogoVar
SLC45A4_chr8_141202174_141313288	141202197	GCGGACGG others(85): Show GCGGACGGGGCGGCTGGCCCGGCGGGGGCTGACCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCTGGCGGGGGCTGACCCCCACCTCCCTCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG03486.hp2 NA20129.hp1 HG02300.hp2 HG03486.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0002 a0001c0004 a0003c0002	a0001c0004t0034 a0003c0002t0002 a0001c0004t0034 a0003c0002t0002	a0001c0004t0034g0032 a0003c0002t0002g0023 a0003c0002t0002g0158 a0001c0004t0034g0032 a0003c0002t0002g0023 a0003c0002t0002g0158	3	188	0.0160	-92	c.92 others(103): Show c.9283_*9374delGGAGGGAGGTGGGGGTCAGCCCCCGCCAGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGTCAGCCCCCGCCGGGCCAGCCGC CCCGTCCG	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		4976		chr8	TogoVar
SLC9A3_chr5_465456_529449	467420	CTGTCTGA others(85): Show CTGTCTGACATCCCCTCAGCCTAGAGGGCGCCCTCCTGGTCCCCTCCTGT CTGACATCCCCTCAGCCTAGAGGGTGCCTTCCTGATCCCCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00642.hp2 HG01261.hp1 others(9): Show HG00558.hp2 HG00642.hp2 HG01261.hp1 HG02004.hp2 HG02132.hp2 HG02148.hp1 HG03471.hp2 NA18522.hp2 NA18957.hp1 NA19081.hp2 NA20300.hp2 NA20805.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0008	a0001c0001 a0001c0026 a0001c0027 others(3): Show a0001c0001 a0001c0026 a0001c0027 a0003c0032 a0006c0015 a0008c0023	a0001c0001t0007 a0001c0001t0012 a0001c0001t0021 others(6): Show a0001c0001t0007 a0001c0001t0012 a0001c0001t0021 a0001c0001t0022 a0001c0026t0012 a0001c0027t0007 a0003c0032t0007 a0006c0015t0007 a0008c0023t0007	a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0007g0035 others(9): Show a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0007g0035 a0001c0001t0007g0065 a0001c0001t0012g0182 a0001c0001t0021g0127 a0001c0001t0022g0070 a0001c0026t0012g0212 a0001c0027t0007g0136 a0003c0032t0007g0161 a0006c0015t0007g0004 a0008c0023t0007g0147	12	218	0.0551	-92	c.58 others(103): Show c.5867_*5958delTGAGGGGATCAGGAAGGCACCCTCTAGGCTGAGG GGATGTCAGACAGGAGGGGACCAGGAGGGCGCCCTCTAGGCTGAGGGGAT GTCAGACA	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding		3035		chr5	TogoVar
SLC9A3_chr5_465456_529449	467650	CTGTCTGA others(85): Show CTGTCTGACATCCCCTCAGCCTGGATGGCGCCCTCCTGGTCCCCTCCTGT CTGACATCCCCTCAGCCTAGAGGGTGCCCTCCTGATCCCCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0153 a0002c0005t0002g0153	1	218	0.0046	-92	c.56 others(103): Show c.5637_*5728delTGAGGGGATCAGGAGGGCACCCTCTAGGCTGAGG GGATGTCAGACAGGAGGGGACCAGGAGGGCGCCATCCAGGCTGAGGGGAT GTCAGACA	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding		2805		chr5	TogoVar
SLC9A3_chr5_465456_529449	467734	ATCCCCTC others(85): Show ATCCCCTCATGTCTGACATCCCCTCAGCCTGGATGGCGCCCTCCTGGTCC CCTCCTGTCTGACATCCCCTCAGCCTAGAGGGTGCCCTCCTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01167.hp2 HG01169.hp1 others(2): Show HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01257.hp1 HG01993.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0026 a0002c0006t0006 a0002c0006t0026	a0002c0006t0006g0001 a0002c0006t0006g0177 a0002c0006t0006g0178 others(1): Show a0002c0006t0006g0001 a0002c0006t0006g0177 a0002c0006t0006g0178 a0002c0006t0026g0047	5	218	0.0229	-92	c.55 others(103): Show c.5553_*5644delCCAGGAGGGCACCCTCTAGGCTGAGGGGATGTCA GACAGGAGGGGACCAGGAGGGCGCCATCCAGGCTGAGGGGATGTCAGACA TGAGGGGA	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding		2721		chr5	TogoVar
SLC9A3_chr5_465456_529449	467918	GTCCCCTC others(85): Show GTCCCCTCGTATCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCC CCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0118 a0001c0003t0008g0118	1	218	0.0046	-92	c.53 others(103): Show c.5369_*5460delTCAGGAGGGCGCCCTCCAGGCTGAGGGGATGTCA GACAGGAGGGGACCAGGAGGGCGCCCTCCAGGCTGAGGGGATGTCAGATA CGAGGGGA	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding		2537		chr5	TogoVar
SLC9A3_chr5_465456_529449	492125	TCAGGGCC others(85): Show TCAGGGCCGGGCTGTGAGGGAGGGGAGGGAGGTGTGGGGACTCGTGGGGG AGGGGAGGGATGTCGGGGCAGGGCCTGTTGGGGAGGGAGGTCA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp2 HG03471.hp2 others(3): Show HG02109.hp1 HG02615.hp2 HG03471.hp2 HG03710.hp1 HG04199.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0012 a0001c0001t0001g0046 a0001c0001t0001g0092 others(3): Show a0001c0001t0001g0012 a0001c0001t0001g0046 a0001c0001t0001g0092 a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0021g0127	6	218	0.0275	-92	c.212 others(106): Show c.212-146_212-55delTGACCTCCCTCCCCAACAGGCCCTGCCCCGA CATCCCTCCCCTCCCCCACGAGTCCCCACACCTCCCTCCCCTCCCTCACA GCCCGGCCCTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SMIM10L1_chr12_11166194_11181016	11168260	GAAAGAAA others(85): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02056.hp2 HG02135.hp2 others(6): Show HG00621.hp1 HG02056.hp2 HG02135.hp2 HG02155.hp2 HG02723.hp1 HG02809.hp1 NA18954.hp2 NA19058.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0003 a0001c0001t0015 a0001c0002t0003	a0001c0001t0015g0000 a0001c0002t0003g0000 a0001c0001t0015g0000 a0001c0002t0003g0000	9	397	0.0227	-92	c.-30 others(103): Show c.-3096_-3005delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG GAAAGAAA	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2933		chr12	TogoVar
SNAP91_chr6_83547885_83714101	83632257	AGGTATAA others(85): Show AGGTATAACTATAAACGTTTTCCTTTATAGGTTACCTGATGCTTCTGTCT CACAGCTCTTAAGATTCTTTCCTTCATCCTAACATTAGACAAC	A A	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	366	0.0027	-92	c.765 others(109): Show c.765+8747_765+8838delGTTGTCTAATGTTAGGATGAAGGAAAGA ATCTTAAGAGCTGTGAGACAGAAGCATCAGGTAACCTATAAAGGAAAACG TTTATAGTTATACC	SNAP91	ENSG00000065609.15	transcript	ENST00000369694.7	protein_coding	8/29			chr6	TogoVar
SNAPC3_chr9_15417876_15466626	15442179	CGGGGCGG others(85): Show CGGGGCGGCTGGCCGGGCGGGGGCTGCCCCCCACCTCCCTCCGGGACGGG GCGGCTGGCCGGGCGGGGGCTGCCCCCAACCTCCCTCCTGGAT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03831.hp2 HG02683.hp1 HG03831.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0072 a0005c0007t0001g0119 a0001c0001t0001g0072 a0005c0007t0001g0119	2	308	0.0065	-92	c.478 others(109): Show c.478-2381_478-2290delGGGACGGGGCGGCTGGCCGGGCGGGGGC TGCCCCCAACCTCCCTCCTGGATGGGGCGGCTGGCCGGGCGGGGGCTGCC CCCCACCTCCCTCC	SNAPC3	ENSG00000164975.16	transcript	ENST00000380821.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SNCA_chr4_89719099_89842161	89727662	ATGCCTGG others(85): Show ATGCCTGGTACATCGAAGACAATCAATTATGTTTGTTAAAGGAATCATAA TGAAGAAATGAATGAATGAATTTCTATTTTTTTTCATCAAACC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02451.hp1 others(5): Show HG02055.hp1 HG02258.hp2 HG02451.hp1 HG02723.hp2 HG02818.hp1 HG02965.hp2 HG03453.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0017 a0001c0001t0031 others(1): Show a0001c0001t0012 a0001c0001t0017 a0001c0001t0031 a0001c0001t0032	a0001c0001t0012g0245 a0001c0001t0012g0251 a0001c0001t0012g0259 others(5): Show a0001c0001t0012g0245 a0001c0001t0012g0251 a0001c0001t0012g0259 a0001c0001t0012g0284 a0001c0001t0017g0247 a0001c0001t0017g0256 a0001c0001t0031g0149 a0001c0001t0032g0255	8	338	0.0237	-92	c.391 others(109): Show c.391-1094_391-1003delGGTTTGATGAAAAAAAATAGAAATTCAT TCATTCATTTCTTCATTATGATTCCTTTAACAAACATAATTGATTGTCTT CGATGTACCAGGCA	SNCA	ENSG00000145335.17	transcript	ENST00000394991.8	protein_coding	5/5			chr4	TogoVar
SPIRE1_chr18_12441512_12663107	12526672	TAGTAGCA others(85): Show TAGTAGCACCCATTATATGGAAGACATTTTATTTTTTTTAATTTAATTTT TTTTTTGAGAGGAGTCTCACTCACTGTCGCCAGGCTGGAGTGC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	328	0.0031	-92	c.729 others(109): Show c.729+8712_729+8803delGCACTCCAGCCTGGCGACAGTGAGTGAG ACTCCTCTCAAAAAAAAAATTAAATTAAAAAAAATAAAATGTCTTCCATA TAATGGGTGCTACT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	4/16			chr18	TogoVar
SRGAP2B_chr1_144882288_145100328	144883974	GGCGGCGG others(85): Show GGCGGCGGGGGGCGAAAAGCCACGGCGGCGGGGGGTAAAAAGCCGCGGCG GTCAAAAAGCCGAGGCGGGGTGGGGGGTGGGGGGGGGGAAGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01346.hp1 HG01952.hp1 others(3): Show HG01258.hp2 HG01346.hp1 HG01952.hp1 HG03492.hp2 HG03831.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0004c0009t0003	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0003g0016 others(3): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0003g0016 a0001c0001t0003g0022 a0001c0001t0015g0010 a0004c0009t0003g0014	6	56	0.1071	-92	c.80 others(103): Show c.8094_*8185delGGCTTCCCCCCCCCCACCCCCCACCCCGCCTCGG CTTTTTGACCGCCGCGGCTTTTTACCCCCCGCCGCCGTGGCTTTTCGCCC CCCGCCGC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3313		chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121239190	ATATATAT others(85): Show ATATATATATATATATATATATATATATATATATATATACTATATATATA TATATACTATATATATATATATATATACTATATATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01175.hp2 HG01243.hp2 others(10): Show HG00323.hp2 HG01175.hp2 HG01243.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03490.hp2 HG03516.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0042 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0042 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047	a0001c0001t0001g0108 a0001c0001t0001g0120 a0001c0001t0001g0180 others(10): Show a0001c0001t0001g0108 a0001c0001t0001g0120 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0274 a0001c0001t0008g0229 a0001c0001t0008g0230 a0001c0001t0008g0251 a0001c0001t0042g0228 a0001c0001t0044g0119 a0001c0001t0046g0121 a0001c0001t0047g0181	13	274	0.0475	-92	c.68- others(109): Show c.68-45594_68-45503delTATATATATATATATATATACTATATAT ATATATATACTATATATATATATATATATACTATATATATATATACTATA TATATATATATATA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
STAT4_chr2_191024576_191155994	191054140	AAAAGAAA others(85): Show AAAAGAAAGAAAAAAAAGATACATTGCTATGTGAAAAAAGCAGGCTATGA AGCAATGAGTATCATATATTTTTAAAGTAATATATAGATAAAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	290	0.0035	-92	c.125 others(109): Show c.1251+258_1251+349delATTTATCTATATATTACTTTAAAAATAT ATGATACTCATTGCTTCATAGCCTGCTTTTTTCACATAGCAATGTATCTT TTTTTTCTTTCTTT	STAT4	ENSG00000138378.19	transcript	ENST00000392320.7	protein_coding	14/23			chr2	TogoVar
STK26_chrX_132018302_132080943	132044704	GAGAGATC others(85): Show GAGAGATCTATATATATATTTATATATATATAGAGAGATCTATATATATA TTTATATATATATAGAGAGATCTATATATATATTTATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	244	0.0041	-92	c.43- others(107): Show c.43-9921_43-9830delTCTATATATATATTTATATATATATAGAGA GATCTATATATATATTTATATATATATAGAGAGATCTATATATATATTTA TATATATAGAGA	STK26	ENSG00000134602.16	transcript	ENST00000394334.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
STK32B_chr4_5046480_5505989	5064396	CTTATATA others(85): Show CTTATATACATATAATATATAAATATATACTTATATACATATAATATATA AATATATACTTATATACATATAATATATAAATATATACTTATG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG01928.hp2 others(3): Show HG01243.hp1 HG01884.hp2 HG01928.hp2 HG02145.hp2 NA18990.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0099 a0001c0001t0002g0152 a0001c0001t0005g0164 others(3): Show a0001c0001t0001g0099 a0001c0001t0002g0152 a0001c0001t0005g0164 a0001c0001t0005g0165 a0002c0002t0001g0026 a0002c0002t0001g0087	6	170	0.0353	-92	c.52+ others(109): Show c.52+12495_52+12586delATATATAAATATATACTTATATACATAT AATATATAAATATATACTTATATACATATAATATATAAATATATACTTAT GTTATATACATATA	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STPG4_chr2_47081991_47160308	47102154	TGCAGGTT others(85): Show TGCAGGTTCTTGGGCAGGGGTTGTTTCTGCTGCTGCGTCAGTGAGCGCAA CTATTCCAATCAGCAGGGTCCAGGGACCATTGCAGGTTCTCGA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp1 HG01515.hp2 others(11): Show HG00741.hp2 HG01243.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG02486.hp1 HG02723.hp1 HG02976.hp2 HG03225.hp2 HG06807.hp2 NA19043.hp1 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0009c0013	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0009c0013t0001	a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0178 others(11): Show a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0178 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0250 a0002c0002t0001g0291 a0002c0002t0001g0292 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 a0009c0013t0001g0174	14	352	0.0398	-92	c.520 others(111): Show c.520-11872_520-11781delTCGAGAACCTGCAATGGTCCCTGGAC CCTGCTGATTGGAATAGTTGCGCTCACTGACGCAGCAGCAGAAACAACCC CTGCCCAAGAACCTGC	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding	5/6			chr2	TogoVar
SULF1_chr8_69487847_69665912	69610807	ATCAGGTC others(85): Show ATCAGGTCCTCCTCTATGTTTCTTAAATGTTACATGTGAATCCCACTTTC TCACTTGCATGGAGGTTGTTACTTCTCTCTTCTCACCTAAGGC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0182 a0001c0001t0032g0182	1	296	0.0034	-92	c.137 others(111): Show c.1377+5938_1377+6029delGGTTGTTACTTCTCTCTTCTCACCTA AGGCTCAGGTCCTCCTCTATGTTTCTTAAATGTTACATGTGAATCCCACT TTCTCACTTGCATGGA	SULF1	ENSG00000137573.14	transcript	ENST00000402687.9	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
SYNPR_chr3_63273308_63621924	63313976	TATATATA others(85): Show TATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATATCCATATATATATATATCCATATATATATATATCC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 NA18956.hp1 HG00544.hp2 HG00558.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0144 a0001c0001t0002g0209 a0001c0001t0002g0210	3	246	0.0122	-92	c.84+ others(109): Show c.84+35247_84+35338delCCATATATATATATATCCATATATATAT ATCCATATATATATATATCCATATATATATATATCCATATATATATATAT CCATATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TBC1D22A_chr22_46757650_47180693	46941116	CACACACA others(85): Show CACACACACACACACACACACACACACACACAGTCCACCCTTGAACAGCA TGGGGACTGGGACACTAGAATATATATATATGTATATATGTAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19030.hp2 NA21309.hp2 HG02109.hp1 NA19030.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0004 a0001c0001t0007 a0005c0006t0021 a0001c0001t0004 a0001c0001t0007 a0005c0006t0021	a0001c0001t0004g0067 a0001c0001t0007g0077 a0005c0006t0021g0019 a0001c0001t0004g0067 a0001c0001t0007g0077 a0005c0006t0021g0019	3	112	0.0268	-92	c.101 others(113): Show c.1015+28958_1015+29049delCAGTCCACCCTTGAACAGCATGGG GACTGGGACACTAGAATATATATATATGTATATATGTATACACACACACA CACACACACACACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TENM2_chr5_166974029_168269157	167974195	GGGAGAAA others(85): Show GGGAGAAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGG GAAGGAAGGAAGGGAGGAAAGGAGGGAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03209.hp2 HG01192.hp2 HG03209.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0014 a0001c0002 a0003c0014	a0001c0002t0013 a0003c0014t0019 a0001c0002t0013 a0003c0014t0019	a0001c0002t0013g0041 a0003c0014t0019g0008 a0001c0002t0013g0041 a0003c0014t0019g0008	2	54	0.0370	-92	c.948 others(111): Show c.948-18745_948-18654delGAAAGGGAGGGAGGGAGGGAGGGAGG GAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGGAGGA AGGAAGGAAGGAAGGA	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	6/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TFB1M_chr6_155251134_155319484	155305178	ATATATTA others(85): Show ATATATTAAATTATATATTTATATATATATTAAATTATATATTTATATAT ATATATTAAATTATATATTTATATATATATTAAATTATATATT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0164 a0001c0002t0007g0164	1	348	0.0029	-92	c.285 others(109): Show c.285+5918_285+6009delAATATATAATTTAATATATATATAAATA TATAATTTAATATATATATATAAATATATAATTTAATATATATATAAATA TATAATTTAATATA	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
THBS2_chr6_169210785_169258846	169217949	TATGGATG others(85): Show TATGGATGGATGGATGGATGGATGAAATGGATGGGTGGATGGATGAGATG GGTGGGTGGATGGATGAGATGGGTCGGTGGGTGGGTGGATGAG	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01081.hp1 HG01109.hp2 others(31): Show HG00733.hp1 HG01081.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01934.hp1 HG02155.hp1 HG02486.hp2 HG02572.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03927.hp2 HG06807.hp2 NA18522.hp1 NA18953.hp1 NA18953.hp2 NA18968.hp1 NA18977.hp1 NA18995.hp1 NA19030.hp2 NA19064.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0005 a0001c0015 others(5): Show a0001c0001 a0001c0005 a0001c0015 a0001c0016 a0001c0018 a0001c0019 a0001c0039 a0007c0047	a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 others(9): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0014 a0001c0001t0028 a0001c0005t0005 a0001c0015t0015 a0001c0016t0005 a0001c0018t0005 a0001c0019t0014 a0001c0039t0012 a0007c0047t0029	a0001c0001t0004g0043 a0001c0001t0004g0108 a0001c0001t0005g0102 others(29): Show a0001c0001t0004g0043 a0001c0001t0004g0108 a0001c0001t0005g0102 a0001c0001t0005g0103 a0001c0001t0005g0135 a0001c0001t0005g0150 a0001c0001t0005g0202 a0001c0001t0005g0313 a0001c0001t0005g0314 a0001c0001t0012g0044 a0001c0001t0012g0046 a0001c0001t0012g0047 a0001c0001t0014g0330 a0001c0001t0028g0192 a0001c0005t0005g0030 a0001c0005t0005g0316 a0001c0005t0005g0318 a0001c0005t0005g0320 a0001c0005t0005g0323 a0001c0005t0005g0324 a0001c0005t0005g0325 a0001c0005t0005g0335 a0001c0015t0015g0017 a0001c0015t0015g0343 a0001c0016t0005g0334 a0001c0018t0005g0288 a0001c0018t0005g0289 a0001c0018t0005g0290 a0001c0019t0014g0310 a0001c0019t0014g0311 a0001c0039t0012g0045 a0007c0047t0029g0055	34	396	0.0859	-92	c.351 others(109): Show c.3512-212_3512-121delCTCATCCACCCACCCACCGACCCATCTC ATCCATCCACCCACCCATCTCATCCATCCACCCATCCATTTCATCCATCC ATCCATCCATCCAT	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	21/21			chr6	TogoVar
TMEM144_chr4_158205486_158260416	158256910	ATATTATA others(85): Show ATATTATATATAGTATTATATATTATATATAGTATTATATATATTATATA TAGTATTATATATTATATATAGTATTATATATATTATATATAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02572.hp1 HG02922.hp1 HG02258.hp2 HG02572.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0051 a0001c0001t0067 a0001c0001t0006 a0001c0001t0051 a0001c0001t0067	a0001c0001t0006g0226 a0001c0001t0051g0033 a0001c0001t0067g0227 a0001c0001t0006g0226 a0001c0001t0051g0033 a0001c0001t0067g0227	3	274	0.0110	-92	c.33 others(103): Show c.3384_*3475delTATTATATATAGTATTATATATTATATATAGTAT TATATATATTATATATAGTATTATATATTATATATAGTATTATATATATT ATATATAG	TMEM144	ENSG00000164124.11	transcript	ENST00000296529.11	protein_coding		1495		chr4	TogoVar
TMEM184C_chr4_147612397_147641721	147624326	AGATTGTT others(85): Show AGATTGTTAAAGAATGTAATATTTTAAATTAATATACTACTCTTTTTATT TATTACGTCTTTTATTTGAATCAAAAATTTAAAAACCTTCCCC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03130.hp1 HG02451.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	2	336	0.0060	-92	c.291 others(107): Show c.291+229_291+320delGATTGTTAAAGAATGTAATATTTTAAATTA ATATACTACTCTTTTTATTTATTACGTCTTTTATTTGAATCAAAAATTTA AAAACCTTCCCC	TMEM184C	ENSG00000164168.8	transcript	ENST00000296582.8	protein_coding	3/9			chr4	TogoVar
TMEM255B_chr13_113754226_113821995	113788230	GGGGGTGG others(85): Show GGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGA GGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0141 a0001c0002t0018g0141	1	260	0.0039	-92	c.253 others(109): Show c.253-6913_253-6822delTGGGGATGGGCAGAGGGGAAGGCGGAGG GGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGG GGAAGGCGGAGGGG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113788261	GGGGGTGG others(85): Show GGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGA GGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0138 a0001c0001t0138	a0001c0001t0138g0217 a0001c0001t0138g0217	1	260	0.0039	-92	c.253 others(109): Show c.253-6882_253-6791delTGGGGATGGGCAGAGGGGAAGGCGGAGG GGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGG GGAAGGCGGAGGGG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TNC_chr9_115014575_115123157	115069630	CCCTCCCT others(85): Show CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp2 HG01257.hp2 others(8): Show HG01081.hp2 HG01099.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG02735.hp2 HG03669.hp1 HG03704.hp2 NA18612.hp1 NA20905.hp2 NA21309.hp2	a0005 a0009 a0045 a0005 a0009 a0045	a0005c0017 a0005c0066 a0009c0019 others(1): Show a0005c0017 a0005c0066 a0009c0019 a0045c0049	a0005c0017t0001 a0005c0017t0002 a0005c0066t0002 others(3): Show a0005c0017t0001 a0005c0017t0002 a0005c0066t0002 a0009c0019t0002 a0009c0019t0011 a0045c0049t0002	a0005c0017t0001g0081 a0005c0017t0002g0076 a0005c0017t0002g0078 others(7): Show a0005c0017t0001g0081 a0005c0017t0002g0076 a0005c0017t0002g0078 a0005c0017t0002g0080 a0005c0066t0002g0251 a0009c0019t0002g0173 a0009c0019t0011g0003 a0009c0019t0011g0172 a0009c0019t0011g0193 a0045c0049t0002g0242	11	366	0.0301	-92	c.321 others(111): Show c.3214+3881_3214+3972delAAGGAAGGAAGGAAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGG GAGGAAGGGAGGGAGG	TNC	ENSG00000041982.17	transcript	ENST00000350763.9	protein_coding	10/27			chr9	TogoVar
TNC_chr9_115014575_115123157	115069634	CCCTCCCT others(85): Show CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0004 a0004c0018t0004	a0004c0018t0004g0226 a0004c0018t0004g0226	1	366	0.0027	-92	c.321 others(111): Show c.3214+3877_3214+3968delAAGGAAGGAAGGAAGGAAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGG GAGGGAGGAAGGGAGG	TNC	ENSG00000041982.17	transcript	ENST00000350763.9	protein_coding	10/27			chr9	TogoVar
TNS1_chr2_217794791_218007995	217809489	ATGCATGG others(85): Show ATGCATGGATGGATGCATGGATGGATGGATGGATAGGTGCATGGATGGAT GCATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0009 a0009	a0009c0102 a0009c0102	a0009c0102t0108 a0009c0102t0108	a0009c0102t0108g0232 a0009c0102t0108g0232	1	244	0.0041	-92	c.527 others(109): Show c.5273+242_5273+333delCCTATCCATCCATCCATCCATCCATCCA TCCATCCATCCATGCATCCATCCATGCACCTATCCATCCATCCATCCATG CATCCATCCATGCA	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	30/32			chr2	TogoVar
TRANK1_chr3_36821819_36950054	36879995	AACATGCA others(85): Show AACATGCAAATATATGTAAACATGCAAATATATGTAAACATGCAAATATA TGTAAACATACAAATATATGTAAACATGCAAATATATATAAAC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	330	0.0030	-92	c.908 others(109): Show c.908-5791_908-5700delGTTTATATATATTTGCATGTTTACATAT ATTTGTATGTTTACATATATTTGCATGTTTACATATATTTGCATGTTTAC ATATATTTGCATGT	TRANK1	ENSG00000168016.15	transcript	ENST00000645898.2	protein_coding	8/23			chr3	TogoVar
TRERF1_chr6_42219931_42456926	42373683	TAGCCAGG others(85): Show TAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGGGGCTG AGTCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCGGTG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0044 a0001c0009t0044	a0001c0009t0044g0170 a0001c0009t0044g0170	1	180	0.0056	-92	c.-45 others(113): Show c.-453-10696_-453-10605delCACCGCAACCTCTGCCTCCCAGGT TCAAGCGATTCTCCTGACTCAGCCCCCTGAGTAGCTGGGATTACAGGCAT GTGCCACCACGCCTGGCT	TRERF1	ENSG00000124496.13	transcript	ENST00000695948.1	protein_coding	2/17			chr6	TogoVar
TRIQK_chr8_92878534_92971144	92949698	AAAGAGAA others(85): Show AAAGAGAAAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGAAG GAAAGGGAAGGAAAGAAAGAGAAGGAAAGAAAGAAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19240.hp1 HG02922.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0018 a0001c0001t0016g0019 a0001c0001t0001g0018 a0001c0001t0016g0019	2	342	0.0059	-92	c.-22 others(109): Show c.-22+4616_-22+4707delCTTTCTTTTTCTTTCTTTCCTTCTCTTT CTTTCCTTCCCTTTCCTTCCTTTCTTCCTTCCTTCCTCCCTCCCTCCCTC CCTTCCTTTCTCTT	TRIQK	ENSG00000205133.12	transcript	ENST00000521988.6	protein_coding	2/4			chr8	TogoVar

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Search Results (Total: 10000 hits)