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
CASQ2_chr1_115695021_115773714	115761402	A A	AAGAAGAA others(202): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA AGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGA GAGGAAGAAG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0274 a0002c0004t0002g0274	1	364	0.0028	209	c.234 others(226): Show c.234+6905_234+6906insCTTCTTCCTCTCCTTCTCCTTCTCCTTC TTCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(202): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGG GGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAG AGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAA GAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03834.hp2 HG00609.hp1 HG03834.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0004t0005 a0002c0003t0001 a0002c0004t0005	a0002c0003t0001g0284 a0002c0004t0005g0324 a0002c0003t0001g0284 a0002c0004t0005g0324	2	364	0.0055	209	c.234 others(226): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCCTCTCC TTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(202): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGG AAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0299 a0002c0003t0001g0299	1	364	0.0028	209	c.234 others(226): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(202): Show AAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAG GAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0251 a0003c0005t0001g0251	1	364	0.0028	209	c.234 others(226): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTC CCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(202): Show AAGAAGAAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGA AGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0189 a0001c0002t0003g0189	1	364	0.0028	209	c.234 others(226): Show c.234+6849_234+6850insCCTTCTCCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCC TCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTC TTCTTCTTCTTCTTCCTCCTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(202): Show AAGAAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGG AGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0192 a0001c0001t0004g0192	1	364	0.0028	209	c.234 others(226): Show c.234+6849_234+6850insCCTTCTCCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCT CCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC TTCTTCTTCTTCTTCTTCCTCCTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761467	A A	AGGAGGAA others(202): Show AGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGA AGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAG AAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02886.hp2 HG02976.hp2 HG02486.hp2 HG02886.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0220 a0001c0002t0003g0221 a0001c0002t0003g0222 a0001c0002t0003g0220 a0001c0002t0003g0221 a0001c0002t0003g0222	3	364	0.0082	209	c.234 others(226): Show c.234+6840_234+6841insCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCC TCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCTTCTTCTTCTTCTTCTTCCTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761488	G G	GGGAAGGG others(202): Show GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGA GGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAG GGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG AAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0039 a0001c0002t0003g0039	1	364	0.0028	209	c.234 others(226): Show c.234+6819_234+6820insTCTTCTTCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761497	G G	GGGAAGGG others(202): Show GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGA GGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAG GGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAG AAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0166	1	364	0.0028	209	c.234 others(226): Show c.234+6810_234+6811insTCTTCTTCTTCTTCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88980056	A A	ATGGGTGG others(202): Show ATGGGTGGATAGATGAGTGAATGGGTGGATGGATGGATGGATGGATAAAT GGGTGAATGGGTGGATGGGTGGATAGATGGGTGAATGGGTGGAAGGATGG ATGGATAAATGGGTGAATGGGTGGGGTGGATGGAGAGATGGGTGAATGGG TGGGTAGGTAAATGGATGGGTGTGTGGGTGAATGAATGGTGGATGGGTGT GTGGGGTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	284	0.0035	209	c.-32 others(220): Show c.-3250_-3249insCCCACCCCACACACCCATCCACCATTCATTCACC CACACACCCATCCATTTACCTACCCACCCATTCACCCATCTCTCCATCCA CCCCACCCATTCACCCATTTATCCATCCATCCTTCCACCCATTCACCCAT CTATCCACCCATCCACCCATTCACCCATTTATCCATCCATCCATCCATCC ACCCATTCACTCATCTATCCACCCA	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding		2850		chr16	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(202): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCC CCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCC ACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	410	0.0024	209	c.-22 others(220): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CD247_chr1_167425640_167523529	167435206	T T	TTCCTCCA others(202): Show TTCCTCCAGCCCTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCGTT CCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCT CCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTC CTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCC TCCGGAGCCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03453.hp1 HG02630.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0092 a0001c0001t0001g0097	2	374	0.0054	209	c.336 others(224): Show c.336+192_336+193insGGGCTCCGGAGGAAGGGCTGGAGGAAGGGC TGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTC CGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCT GGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAACGGCTGGAGGAAGGGCTG GAGGAGGGCTCCGGAGGAGGGCTGGAGGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CDK14_chr7_90591321_91215590	91027855	C C	CCTCCCCT others(202): Show CCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCT CTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCT CCCCTCTCCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	168	0.0060	209	c.104 others(230): Show c.1042-18006_1042-18005insCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCT CCCCTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCTCCTC TCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCC	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHMP1A_chr16_89639435_89662708	89647903	C C	CCCAGCGC others(202): Show CCCAGCGCGGGGTCGGTGGGAGAAAAGGCCGCCGACGTGGAGACCCAGCG CGGGGTCGGTGGAGCAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCG GTGGAGCAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGCGCGGGTCGGTGGAGAAAGGCCGCC GACGTGGAGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	392	0.0026	209	c.253 others(224): Show c.253-573_253-572insTCTCCACGTCGGCGGCCTTTCTCCACCGAC CCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCCGCGCT GGGTCTCCACGTCGGCGGCCTTTGCTCCACCGACCCCGCGCTGGGTCTCC ACGTCGGCGGCCTTTGCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGC GGCCTTTTCTCCCACCGACCCCGCGCTGG	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
COL4A2_chr13_110302284_110518209	110456978	C C	CATGCCCT others(202): Show CATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCCT GCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCCTGCGTCTGC GTGGGACCCCAGGCGTCCGTGGGGCTGATGCCGTGCATCTGCGTGGGACC CCAGGCGTCGTGGGGCTGATGCCGTGCGTCTGCGTGGGACCCCAGGCGTC CGTGGGGCTG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18964.hp1 NA18946.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0017 a0001c0001t0001 a0001c0003t0017	a0001c0001t0001g0195 a0001c0003t0017g0245 a0001c0001t0001g0195 a0001c0003t0017g0245	2	372	0.0054	209	c.134 others(225): Show c.1340-239_1340-31dupGATGCCGTGCATCTGCGTGGGACCCCAGG CGTCGTGGGGCTGATGCCGTGCGTCTGCGTGGGACCCCAGGCGTCCGTGG GGCTGATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATG CCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCCTGCGT CTGCGTGGGACCCCAGGCGTCCGTGGGGCT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	20/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL6A1_chr21_45976770_46010048	45990459	A A	AGGAGGGA others(202): Show AGGAGGGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGG GATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG GGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGA CCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGG GGAGGGACGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG01074.hp1 others(18): Show HG00323.hp2 HG00423.hp2 HG01074.hp1 HG01074.hp2 HG01167.hp1 HG01258.hp1 HG01496.hp2 HG02015.hp1 HG02559.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG03239.hp2 HG03453.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG04228.hp1 NA18612.hp1 NA19067.hp2 NA19088.hp2	a0001 a0002 a0011 others(3): Show a0001 a0002 a0011 a0017 a0018 a0020	a0001c0003 a0001c0012 a0001c0018 others(7): Show a0001c0003 a0001c0012 a0001c0018 a0001c0024 a0002c0002 a0002c0008 a0011c0019 a0017c0029 a0018c0031 a0020c0013	a0001c0003t0003 a0001c0003t0006 a0001c0012t0005 others(8): Show a0001c0003t0003 a0001c0003t0006 a0001c0012t0005 a0001c0018t0001 a0001c0024t0003 a0002c0002t0004 a0002c0008t0004 a0011c0019t0003 a0017c0029t0003 a0018c0031t0013 a0020c0013t0004	a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0036 others(18): Show a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0036 a0001c0003t0003g0124 a0001c0003t0006g0005 a0001c0003t0006g0031 a0001c0003t0006g0059 a0001c0012t0005g0073 a0001c0012t0005g0074 a0001c0018t0001g0049 a0001c0024t0003g0030 a0002c0002t0004g0021 a0002c0002t0004g0023 a0002c0002t0004g0025 a0002c0002t0004g0027 a0002c0002t0004g0028 a0002c0008t0004g0032 a0011c0019t0003g0114 a0017c0029t0003g0022 a0018c0031t0013g0029 a0020c0013t0004g0018	21	128	0.1641	209	c.100 others(224): Show c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAA GGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGG ACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGA CGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAC CAGGGGAAGGACGGGGAGGGACGGGGAGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	13/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45990459	A A	AGGAGGGA others(202): Show AGGAGGGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGG GATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG GGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGA CCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGG GGAGGGACGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01123.hp2 HG01192.hp1 others(7): Show HG00733.hp1 HG01123.hp2 HG01192.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02895.hp2 HG02965.hp2 HG02970.hp2 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0008 a0002c0002t0009 others(1): Show a0002c0002t0001 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010	a0002c0002t0001g0011 a0002c0002t0001g0043 a0002c0002t0001g0054 others(7): Show a0002c0002t0001g0011 a0002c0002t0001g0043 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0127 a0002c0002t0008g0118 a0002c0002t0009g0084 a0002c0002t0009g0122 a0002c0002t0010g0039	10	128	0.0781	209	c.100 others(224): Show c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAA GGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGG ACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGA CGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAC CAGGGGAAGGACGGGGAGGGACGGGGAGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	13/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
CPNE7_chr16_89570758_89602246	89588154	G G	GCCCGCGT others(202): Show GCCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTTACCCACAGATACA CGGCCCCCCGTGTTACCCGCGTGTCACCCACAGATACACGGCCCCCCGTG TTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAT ACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACA GATACACGGC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18959.hp2 NA18942.hp2 NA18959.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0113 a0002c0003t0003g0114 a0002c0003t0003g0113 a0002c0003t0003g0114	2	348	0.0058	209	c.928 others(224): Show c.928-518_928-517insGCGTGTCACCCACAGAAACACGGCCCCCGT GTTACCCACAGATACACGGCCCCCCGTGTTACCCGCGTGTCACCCACAGA TACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCG CGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCC CCCCGTGTTACCCACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CROCC2_chr2_240901336_240998311	240924132	G G	GCCCCCCA others(202): Show GCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACTGACC CGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAA CCCGGCCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTA ACCCGGCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACA CTGACCCGGC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0003 a0009c0010t0003	a0009c0010t0003g0192 a0009c0010t0003g0192	1	350	0.0029	209	c.488 others(226): Show c.488+1487_488+1488insCCCCCCACACTAACCCGGCCCCCCACAC TAACCCAGCCCCCCACTGACCCGGCCCCCCACACTAACCCAGTCCCCACA CTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCAC ACTAATCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCC CACACTAACCCAGCCCCCACACTGACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924153	C C	CCCACACT others(202): Show CCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGC CCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCCG GCCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTAAC CCAGTCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAA CCCGGCCCCT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02056.hp2 HG02300.hp2 others(1): Show HG01952.hp2 HG02056.hp2 HG02300.hp2 NA19011.hp2	a0006 a0029 a0006 a0029	a0006c0007 a0029c0049 a0006c0007 a0029c0049	a0006c0007t0001 a0029c0049t0001 a0006c0007t0001 a0029c0049t0001	a0006c0007t0001g0193 a0006c0007t0001g0194 a0006c0007t0001g0216 others(1): Show a0006c0007t0001g0193 a0006c0007t0001g0194 a0006c0007t0001g0216 a0029c0049t0001g0198	4	350	0.0114	209	c.488 others(226): Show c.488+1509_488+1510insCACACTAACCCAGTCCCCACACTAACCC AGTCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACC CGGCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTG ACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACAC TAATCCGGCCCCCACACTAACCCGGCCCCTC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924411	C C	CCCCCCAC others(202): Show CCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAAC CCAGTCCCCACACTGACCCGGCCCCCACACTAACCCAGTCCCCACACTGA CCCGGCCCCCACACTGACCCGGTCCCCACACTATCCCGGCCCCCACACTA ACCCGGCCCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCCACA CTAACCCAGT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0006 a0002c0021t0006	a0002c0021t0006g0069 a0002c0021t0006g0072 a0002c0021t0006g0069 a0002c0021t0006g0072	2	350	0.0057	209	c.489 others(226): Show c.489-1309_489-1308insCACACTAACCCAGCCCCCCACACTAACC CGGCCCCCCACACTAACCCAGTCCCCACACTGACCCGGCCCCCACACTAA CCCAGTCCCCACACTGACCCGGCCCCCACACTGACCCGGTCCCCACACTA TCCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCAACAC TAACCCAGCCCCCCACACTAACCCAGTCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924444	G G	GCCCCCCA others(202): Show GCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAAC CCGGCCCCCACACTGACCCAGCCCCCACACTAACCCTAACCCCACACTAA CCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACAC TAACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACA CTAACCCGGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0329 a0002c0002t0002g0329	1	350	0.0029	209	c.489 others(226): Show c.489-1275_489-1274insCACACTAACCCGGCCCCCACACTAACCC GGCCCCCCACACTAACCCGGCCCCCACACTGACCCAGCCCCCACACTAAC CCTAACCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTA ACCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACAC TAACCCGGCCCCCACACTAACCCGGCCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRTC3_chr15_90524923_90650345	90647459	G G	GCCTCACA others(202): Show GCCTCACACCTCCCTCACCCCTCCTCCTCCACACCCCTCCTCATCCTCCA CACCCCTCCTCCGCCTCACCCCCCTCCTCCTCCACACCCCTCCTCCGCCT CACACCTCCCTCACCCCTCCTCCTCCACACCCCTCCTCATCCTCCACACC CCTCCCCCTCCTCACCCCGTCTCCTCCTCCACACCCCTCCTCCTCCACAC CCCTCCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02735.hp1 HG03688.hp1 HG01255.hp2 HG02735.hp1 HG03688.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0043 a0001c0001t0001g0046 a0003c0003t0001g0045 a0001c0001t0001g0043 a0001c0001t0001g0046 a0003c0003t0001g0045	3	276	0.0109	209	c.53 others(220): Show c.5319_*5320insCCTCACACCTCCCTCACCCCTCCTCCTCCACACC CCTCCTCATCCTCCACACCCCTCCTCCGCCTCACCCCCCTCCTCCTCCAC ACCCCTCCTCCGCCTCACACCTCCCTCACCCCTCCTCCTCCACACCCCTC CTCATCCTCCACACCCCTCCCCCTCCTCACCCCGTCTCCTCCTCCACACC CCTCCTCCTCCACACCCCTCCTCCA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2115		chr15	TogoVar
CSMD1_chr8_2930361_4999914	3926014	T T	TACACACA others(202): Show TACACACACACACACACACACACACACACACACACCATATACACACACAC ACACACAAACACCATACACACACACACACACACACAAACACCATACACAC ACACACACACACACACACACCATACACACACACACACACACAAACACCAT ACACACACACACACACACACACACACCATACACACACACACACACACAAA CACCATACAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0078 a0001c0019t0078	a0001c0019t0078g0105 a0001c0019t0078g0105	1	126	0.0079	209	c.818 others(228): Show c.818+71888_818+71889insCTGTATGGTGTTTGTGTGTGTGTGTG TGTGTATGGTGTGTGTGTGTGTGTGTGTGTGTGTATGGTGTTTGTGTGTG TGTGTGTGTGTATGGTGTGTGTGTGTGTGTGTGTGTGTGTATGGTGTTTG TGTGTGTGTGTGTGTGTGTATGGTGTTTGTGTGTGTGTGTGTGTATATGG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSNK1G2_chr19_1936172_1986338	1967976	C C	CCCAGGCT others(202): Show CCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCC AGGCTGCCCCTGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCT CCCTTCTCCCCAGGCTGCCCCTGACCACCCTTCAGTTCTGCAGGTGGGGC TCCTCCCTCCTCCCTTCTCCCCAGGCTGCCCCGGACCACCCTTCAGTTCT GCAGGTGGGG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0344 a0001c0001t0001g0344	1	382	0.0026	209	c.-26 others(228): Show c.-265-1531_-265-1530insCAGGCTGCCCCCGACCACCCTTCAGT TCTGCAGGTGGGGCTCCTCCCCAGGCTGCCCCTGACCACCCTTCAGTTCT GCAGGTGGGGCTCCTCCCTCCTCCCTTCTCCCCAGGCTGCCCCTGACCAC CCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCTTCTCCCCAGGCTG CCCCGGACCACCCTTCAGTTCTGCAGGTGGGGC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
DCAF10_chr9_37795797_37872664	37808748	A A	ATATATAA others(202): Show ATATATAAAGTATATATTTATATAATATATATTATATATAATATATATTA TATAAATATATATTATATATAATATATATTTATATAATATATATAAAAAT ATATTTATATATAATATATATTTATATAATATATATTATATAAATATATA TTATATAAAATATATATTTATATAAAAATGTATTATATTATATATTATAT AAATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0008 a0003c0007t0008	a0003c0007t0008g0047 a0003c0007t0008g0047	1	356	0.0028	209	c.539 others(226): Show c.539+7345_539+7346insTATAAAGTATATATTTATATAATATATA TTATATATAATATATATTATATAAATATATATTATATATAATATATATTT ATATAATATATATAAAAATATATTTATATATAATATATATTTATATAATA TATATTATATAAATATATATTATATAAAATATATATTTATATAAAAATGT ATTATATTATATATTATATAAATATATATTA	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCDC2C_chr2_3698575_3853008	3704387	A A	AGGGGCGT others(202): Show AGGGGCGTGGGGGGCGTGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGAGG GGTGTGGAGAGGGGCATGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGGCG TGGGGAGGAGTGTAGGGGAGGGGGAGGGGGGAGGGGTGTGGGGGAGGGGC ATGGGGCAGAAACAGGGGTGTGGAGGAGGGCATGGGGGAGGGGTGTGGAG AGGGGCGTGG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0164 a0001c0002t0025g0164	1	324	0.0031	209	c.287 others(224): Show c.287+484_287+485insTGTGGGGGAGGGGCATGGGGCAGAAACAGG GGTGTGGAGGAGGGCATGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGGCG TGGGGGGCGTGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGAGGGGTGTGG AGAGGGGCATGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGGCGTGGGGAG GAGTGTAGGGGAGGGGGAGGGGGGAGGGG	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(202): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATATAATTATATATTATATATTAT ATGATATACATATATATTATATGCATATAATATATACATATATGCATATA ATATATACATATATTATATGCATATAATATATACATATATTATATGCATA TAATATATAC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0077 a0001c0002t0002g0077	1	280	0.0036	209	c.126 others(226): Show c.126+1125_126+1126insGTATATATTATATGCATATAATATATGT ATATATTATATGCATATAATATATGTATATATTATATGCATATATGTATA TATTATATGCATATAATATATATGTATATCATATAATATATAATATATAA TTATATATTATATATCATAATATGTAATATATAATTATATATTACATATA TATATTTTAATATATATAATATATAATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DHRSX_chrX_2214506_2505976	2314304	G G	GAGGGAGG others(202): Show GAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGA GGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAGG GAGGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGA GGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAGG GAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0018 a0003c0003t0002g0018	1	50	0.0200	209	c.287 others(228): Show c.287-22702_287-22701insTCCCTCCCTCCCTCCTTCCCTCCTTC CCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCC TCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTC CCTCCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCC TCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2314306	A A	AGGAGGGA others(202): Show AGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGAAG GAGGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGAGGGA GGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGG GAGGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGA GGGAAAGGAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0016 a0002c0002t0002g0016	1	50	0.0200	209	c.287 others(228): Show c.287-22704_287-22703insCTCCTTTCCCTCCCTCCCTCCTTCCC TCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTC CTTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCC TCCCTCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTC CCTCCTTCCCTCCTTCCCTCCCTCCCTCCCTCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DIP2C_chr10_269201_694668	516565	A A	AGGTGGAC others(202): Show AGGTGGACAGTGGGACAGGGGAAGGGGGTAAGGGGGGGACAGGGGGTAGG GTGGGAGGGGGGGACGGGGTAGGGTGGGAGGGGGGGACGGGGTAGGGTGG GGGGGGACAGGGGGTAGGGTGGGGGGGGGACAGGGGGTAGGGTGGGGGGG GGACAGGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGGACAG GGGGTAGGGT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0071 a0001c0023t0003g0071	1	88	0.0114	209	c.86- others(226): Show c.86-30036_86-30035insACCCTACCCCCTGTCCCCCCCCACCCTA CCCCGTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCCACCCTACCCCC TGTCCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCGTCCCC CCCTCCCACCCTACCCCGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCC CTTACCCCCTTCCCCTGTCCCACTGTCCACC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608515	C C	CCCCACAC others(202): Show CCCCACACACACCCCCCCCACACACACACACACCCCCCCCCCCACACACA CACACACCCCCCCCACACACACACACACCCCCCCACACACACACACACAC CCCCCCCCACACACACACCCCCCCCCACACACACACCCCCCCCCCACACA CACACCCCCCCCCCACACACACACACCCCCCCCCCACACACACACCCCCC CCCACACACA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0060 a0001c0007t0007g0060	1	88	0.0114	209	c.85+ others(226): Show c.85+80978_85+80979insTGTGTGTGGGGGGGGGTGTGTGTGTGGG GGGGGGGTGTGTGTGTGTGGGGGGGGGGTGTGTGTGTGGGGGGGGGGTGT GTGTGTGGGGGGGGGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGTGTGG GGGGGTGTGTGTGTGTGTGGGGGGGGTGTGTGTGTGTGTGGGGGGGGGGG TGTGTGTGTGTGTGGGGGGGGTGTGTGTGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DISP3_chr1_11474155_11542551	11522574	A A	ACCCAGCC others(202): Show ACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAG CCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGG CCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGC CAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGC CCAGCCAGGG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0108 a0002c0002t0002g0108	1	358	0.0028	209	c.236 others(228): Show c.2363-1360_2363-1359insGGGCCCAGCCAGGACCCAGCCAGAGC CCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCC AGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522574	A A	ACCCAGCC others(202): Show ACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAG CCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGG CCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGC CAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGC CCAGCCAGGG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0204 a0002c0002t0002g0204	1	358	0.0028	209	c.236 others(228): Show c.2363-1360_2363-1359insGGGCCCAGCCAGGACCCAGCCAGAGC CCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCC AGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCA GGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522574	A A	ACCCAGCC others(202): Show ACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAG CCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGG CCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGGCCCAGC CAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGC CCAGCCAGGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0018 a0018	a0018c0047 a0018c0047	a0018c0047t0002 a0018c0047t0002	a0018c0047t0002g0202 a0018c0047t0002g0202	1	358	0.0028	209	c.236 others(228): Show c.2363-1360_2363-1359insGGGCCCAGCCAGGACCCAGCCAGGGC CCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCC AGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCC CAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522574	A A	ACCCAGCC others(202): Show ACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAG CCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGG CCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGC CAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGC CCAGCCAGGG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0177 a0002c0002t0002g0177	1	358	0.0028	209	c.236 others(228): Show c.2363-1360_2363-1359insGGGCCCAGCCAGGACCCAGCCAGGGC CCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCC AGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCC CAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCA GGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522607	G G	GCCCAGCC others(202): Show GCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAG CCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGA CCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGC CCAGCCAGGA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0170 a0002c0002t0002g0170	1	358	0.0028	209	c.236 others(228): Show c.2363-1325_2363-1324insGCCCAGCCAGGGCCCAGCCAGGGCCC AGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAG GGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGG GCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNLZ_chr9_136354483_136368744	136355026	A A	AGTGACAC others(202): Show AGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGTGACACG TCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGG GAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGGTA GCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTG CCGAGGGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	209	c.69 others(220): Show c.6985_*6986insCCACCCTCGGCACCCGGCTACCCCTCCCCCAGGA CGTGTCACCCACCCTCGGCACCCGGCTACCCCTCCCCCAGGACGTGTCAC CCACCCTCGGCACCCGGCTACCCCTCCCCCAGGACGTGTCACCCACCCTC GGCACCCGGCTACCCCTCCCCCAGGACGTGTCACCACCCTCGGCACCCGG CTACCCCTCCCCCAGGACGTGTCAC	DNLZ	ENSG00000213221.5	transcript	ENST00000371738.4	protein_coding		4456		chr9	TogoVar
DOP1A_chr6_83062671_83173471	83145204	A A	AATATATA others(202): Show AATATATATAATATGTATATATAATATATATATAATATGTATATATAATA TATATATAATATATATAATATATATAATATATATATAATATATATAATAT ATATATAATATATATATTATATATATTATATATATAATATATATATAATA TATATATAATATATATATAATATATATATAATATATATATTTAAAAGTAT ATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02132.hp1 HG02886.hp2 others(1): Show HG00408.hp1 HG02132.hp1 HG02886.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0161 a0001c0001t0001g0177 others(1): Show a0001c0001t0001g0140 a0001c0001t0001g0161 a0001c0001t0001g0177 a0001c0001t0001g0214	4	298	0.0134	209	c.554 others(226): Show c.5542-317_5542-316insTATATAATATGTATATATAATATATATA TAATATGTATATATAATATATATATAATATATATAATATATATAATATAT ATATAATATATATAATATATATATAATATATATATTATATATATTATATA TATAATATATATATAATATATATATAATATATATATAATATATATATAAT ATATATATTTAAAAGTATATATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145204	A A	AATATATA others(202): Show AATATATATAATATGTATATATAATATATATATAATATGTATATATAATA TATATATAATATATATAATATATATAATATATATATAATATATATATAAT ATATATAATATATATATTATATATATTATATATATAATATATATATAATA TATATATAATATATATATAATATATATATAATATATATATTTAAAAGTAT ATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	298	0.0034	209	c.554 others(226): Show c.5542-317_5542-316insTATATAATATGTATATATAATATATATA TAATATGTATATATAATATATATATAATATATATAATATATATAATATAT ATATAATATATATATAATATATATAATATATATATTATATATATTATATA TATAATATATATATAATATATATATAATATATATATAATATATATATAAT ATATATATTTAAAAGTATATATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DPEP1_chr16_89608642_89643433	89619398	C C	CCCCCTGC others(202): Show CCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCTCCCTGCTCCCTCCCTGC AGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTG CAGCTCCATG	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	250	0.0040	209	c.-10 others(228): Show c.-107+5683_-107+5684insTGCTCCCCTCCCTGCAGCTCCCTGCC CTCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGC AGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EIF4G3_chr1_20801479_21181897	21179796	A A	ATATATAA others(202): Show ATATATAATATATTATATATATATTATATATTATATATTATATATAATAT ATTATATATATTATATAATATATATAATACATTATATATAATATATAATA TATATAATATATTATATATAATATAATATATATAATATATTATATATAAT ATAATATATTATATATATAATATAATATATATAATATATATTTAATATAT TATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02145.hp2 HG01106.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0210 a0001c0001t0001g0215	2	312	0.0064	209	c.-35 others(220): Show c.-3531_-3530insATTATATATAATATATTAAATATATATTATATAT ATTATATTATATATATAATATATTATATTATATATAATATATTATATATA TTATATTATATATAATATATTATATATATTATATATTATATATAATGTAT TATATATATTATATAATATATATAATATATTATATATAATATATAATATA TAATATATATATAATATATTATATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		2900		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21179800	A A	ATATAATA others(202): Show ATATAATATATTATATATTATATATATTATATAATATATTATATATTATA TATATTATATAATATATTATATATTATATATATTATATTATATATATTAT ATATTATATATAATACATTATATATATTATATAATATATATAATATATTA TATATAATATATATAATATAATATATATAATATATATTTAATATATTATA TATAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0204 a0001c0001t0009g0204	1	312	0.0032	209	c.-35 others(220): Show c.-3535_-3534insATATATTATATATAATATATTAAATATATATTAT ATATATTATATTATATATATTATATATAATATATTATATATATTATATAA TATATATAATGTATTATATATAATATATAATATATATAATATAATATATA TAATATATAATATATTATATAATATATATAATATATAATATATTATATAA TATATATAATATATAATATATTATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		2904		chr1	TogoVar
ELOVL6_chr4_110040846_110203615	110084076	C C	CTATATAT others(202): Show CTATATATGATATATAACATATATATGATATATATGATATATACATGTTA TATAACATATATATCATATATATGTTATATATGATATATAACATATATAT GATATATATTATATATATAACATATATGTGATGATATATATGATATATAT AACATATATATGATATATATGATATATACATGTTATATATCATATATATC ATATATATGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0024 a0001c0001t0059g0024	1	338	0.0030	209	c.221 others(228): Show c.221+21420_221+21421insTCATATATATGATATATATGATATAT AACATGTATATATCATATATATCATATATATGTTATATATATCATATATA TCATCACATATATGTTATATATATAATATATATCATATATATGTTATATA TCATATATAACATATATATGATATATATGTTATATAACATGTATATATCA TATATATCATATATATGTTATATATCATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084076	C C	CTATATAT others(202): Show CTATATATGATATATAACATATATATGATATATATGATATATACATGTTA TATATCATATATATCATATATATGTTATATATGATATATAACATATATAT GATATATATTATATATATAACATATATGTGATGATATATATGATATATAT AACATATATATGATATATATGATATATACATGTTATATATCATATATATC ATATATATGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02818.hp2 HG02922.hp2 others(9): Show HG02622.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03209.hp2 HG03471.hp1 HG03669.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0015 others(6): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0045 a0001c0001t0050 a0001c0001t0078	a0001c0001t0001g0226 a0001c0001t0011g0045 a0001c0001t0011g0047 others(9): Show a0001c0001t0001g0226 a0001c0001t0011g0045 a0001c0001t0011g0047 a0001c0001t0011g0151 a0001c0001t0011g0152 a0001c0001t0015g0227 a0001c0001t0021g0069 a0001c0001t0022g0017 a0001c0001t0025g0108 a0001c0001t0045g0204 a0001c0001t0050g0039 a0001c0001t0078g0099	12	338	0.0355	209	c.221 others(228): Show c.221+21420_221+21421insTCATATATATGATATATATGATATAT AACATGTATATATCATATATATCATATATATGTTATATATATCATATATA TCATCACATATATGTTATATATATAATATATATCATATATATGTTATATA TCATATATAACATATATATGATATATATGATATATAACATGTATATATCA TATATATCATATATATGTTATATATCATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ESF1_chr20_13709325_13789919	13733099	C C	CATTTTTT others(202): Show CATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTTTTGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp2 NA18906.hp1 HG02486.hp1 HG02559.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116	3	390	0.0077	209	c.195 others(226): Show c.1950+621_1950+622insACAAAAAATTAGCCGGGCGCGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCG CAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	10/13			chr20	TogoVar
FAM240C_chr2_241888988_241905464	241896714	G G	GGGGTGTG others(202): Show GGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTGGGGGTGTG GGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTGGGTGTTGG GGTGTGGGTGAAGGGGTTTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGG TGTGGGGGTGTGGGTGTTGGGGTGTGGGTGAAGGGGTGTGTGTGTTGGGG TGTGGGTGAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	37	0.0270	209	c.161 others(224): Show c.161+471_161+472insTTCACCCACACCCCAACACACACACCCCTT CACCCACACCCCAACACCCACACCCCCACACCCACACCCCAACACCCACA CCCCAACACCCAAACCCCTTCACCCACACCCCAACACCCACACCCCAACA CCCACACCCCCACACCCACACCCCCACACCCACACCCCCACACCCACACC CCAACACCCACACCCCAACACCCACACCC	FAM240C	ENSG00000216921.9	transcript	ENST00000404031.6	protein_coding	2/2			chr2	TogoVar
FHIT_chr3_59742277_61256452	59986751	T T	TAAATATA others(202): Show TAAATATATACATATATTTATATATATATATACATATATTTATATATATA TACATATATTTATATATATATAAATATATTTATATAAATATATAAATATA TATATATAAATATATATAAAACTAAATATGTAAATATATTATAAATATAA ATACATAAAAATATTTTAAAAATTTTAAAAATATATAAATATATTTATAT AAATATATAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03139.hp2 HG06807.hp2 HG01071.hp1 HG03139.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0001t0001 a0001c0001t0007 a0001c0001t0012	a0001c0001t0001g0025 a0001c0001t0007g0008 a0001c0001t0012g0022 a0001c0001t0001g0025 a0001c0001t0007g0008 a0001c0001t0012g0022	3	46	0.0652	209	c.279 others(228): Show c.279+24619_279+24620insTTATATATTTATATAAATATATTTAT ATATTTTTAAAATTTTTAAAATATTTTTATGTATTTATATTTATAATATA TTTACATATTTAGTTTTATATATATTTATATATATATATTTATATATTTA TATAAATATATTTATATATATATAAATATATGTATATATATATAAATATA TGTATATATATATATAAATATATGTATATATTT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	7/9			chr3	TogoVar
FLT3_chr13_27998274_28105576	27998891	T T	TATTTATA others(202): Show TATTTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATATTTATA TACATATAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0013 a0013	a0013c0031 a0013c0031	a0013c0031t0004 a0013c0031t0004	a0013c0031t0004g0153 a0013c0031t0004g0153	1	292	0.0034	209	c.51 others(220): Show c.5160_*5161insTTTATATGTATATAAATATATATATTTATATGTA TATAAATATATATATTTATATGTATATAAATATATATATTTATATGTATA TAAATATATATATTTATATGTATATAAATATATATATTTATATGTATATA AATATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TATATATATTTATATGTATATAAAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4382		chr13	TogoVar
GALR1_chr18_77244848_77282900	77259174	G G	GATGGTGG others(202): Show GATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTG GTCACAGTGGTGGTGGTGTTGGTGTTGGTGGTGGTCATGGTGGTCATGGT GGTGATGACGGTGATGATGATGGTGGTCATGGTGGCGATTGTGGTGATGG TGGATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGTTGGTGGTGGT CATGGTGGTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0293 a0001c0001t0092g0293	1	366	0.0027	209	c.732 others(226): Show c.732+2959_732+2960insCATGGTGGCGATTGTGGTGATGGTGGTG GATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGTTGGTGGTGGTCA TGGTGGTCATGGTGGTGATGACGGTGATGATGATGGTGGTCATGGTGGCG ATTGTGGTGATGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGG TGTTGGTGGTGGTCATGGTGGTCATGGTGGT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)