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
DIP2C_chr10_269201_694668	429405	C C	CCCCCCGG others(101): Show CCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCC GGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCC TGGCTGCCT	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA20805.hp2 HG01515.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0002 a0001c0001t0001 a0001c0012t0002	a0001c0001t0001g0048 a0001c0012t0002g0052 a0001c0001t0001g0048 a0001c0012t0002g0052	2	88	0.0227	108	c.395 others(125): Show c.395-6373_395-6372insAGGCAGCCAGGGCCCGGGGGGGAGGCAG CCAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGG CCCGGGGGGGAGGCAGCCAGGGCCCGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	516743	G G	GGTGGGGG others(101): Show GGTGGGGGGGGACACGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGG GGGGGACACGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGGA CACGGGGTA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0047 a0001c0002t0003g0047	1	88	0.0114	108	c.86- others(125): Show c.86-30214_86-30213insTACCCCGTGTCCCCCCCCACCCTACCCC GTGTCCCCCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCGTGTCC CCCCCCACCCTACCCCGTGTCCCCCCCCAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608521	A A	ACACACAT others(101): Show ACACACATCCCCCCCCACACACACACATCCCCCCCCACACACACACATCC CCCCCCACACACACACATCCCCCCACACACACACACATCCCCCCCCCACA CACACATCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	88	0.0114	108	c.85+ others(125): Show c.85+80972_85+80973insGGATGTGTGTGTGGGGGGGGGATGTGTG TGTGTGTGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGG GGGATGTGTGTGTGTGGGGGGGGATGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK1A_chr1_92837167_92966462	92846850	T T	TATATATA others(101): Show TATATATACACACGTATATATATATATACACACGTATATATATATATATA TACACACGTATATATATATATACACACGTATATATATATATATACACGTA TATATATAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0068 a0001c0007t0002g0068	1	200	0.0050	108	c.474 others(123): Show c.474+332_474+333insGTATATATATACGTGTATATATATATATAT ACGTGTGTATATATATATATACGTGTGTATATATATATATATATACGTGT GTATATATATATATACGTGTGTATATAT	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	4/4			chr1	TogoVar
DLGAP2_chr8_732628_1713476	759140	T T	TTTCCCAT others(101): Show TTTCCCATTATCAATACCCCCCACAACCTTCCCATTATCAATACCCCCGA CAGCCTTCCCATTATCAATACCCCTGACAGCTTTCCCATTATCAATACCC CCCACAACC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02895.hp1 NA18906.hp1 HG02258.hp1 HG02895.hp1 NA18906.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0001 a0004c0008 a0001c0003 a0002c0001 a0004c0008	a0001c0003t0001 a0002c0001t0005 a0004c0008t0016 a0001c0003t0001 a0002c0001t0005 a0004c0008t0016	a0001c0003t0001g0027 a0002c0001t0005g0028 a0004c0008t0016g0029 a0001c0003t0001g0027 a0002c0001t0005g0028 a0004c0008t0016g0029	3	40	0.0750	108	c.18+ others(125): Show c.18+21339_18+21340insACCTTCCCATTATCAATACCCCCGACAG CCTTCCCATTATCAATACCCCTGACAGCTTTCCCATTATCAATACCCCCC ACAACCTTCCCATTATCAATACCCCCCACA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	848350	A A	ACGTGCGG others(101): Show ACGTGCGGTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTGT AGGGTCGTGCGGTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCA GTGTAGGGT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	1	40	0.0250	108	c.19- others(125): Show c.19-59552_19-59551insGTGTTCCAGTGTAGGGTCGTGCGGTGCG TGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTGTAGGGTCGTGCGG TGCGTGTTCCAGTGTAGGGTCGTGCGGTGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	990847	C C	CCAGACTC others(101): Show CCAGACTCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACC TTGCCCACACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCC CCCCTTGCG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0017 a0002c0001t0003g0017	1	40	0.0250	108	c.73+ others(125): Show c.73+82886_73+82887insTCCCTGCACCCCCATACTCGGAGTTCCT GTTCTTCTCTCCCACCTTGCCCACACCCCCTGCACCCCCATACTCGGAGT TCCTGTTCTTCTCTCCCCCCTTGCGCAGAC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	991172	C C	CAGACCCC others(101): Show CAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCT TGCCCACACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCC TCCTTGCCT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0037 a0003c0005t0004g0037	1	40	0.0250	108	c.73+ others(125): Show c.73+83206_73+83207insAGACCCCCTGCACCCCCATACTCGGAGT TCCTGTTCTTCTCTCCCACCTTGCCCACACCCCCTGCACCCCCATACTCG GAGTTCCTGTTCTTCTCTCCCTCCTTGCCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	991335	A A	AGACCCCC others(101): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTT GCCCAGACCCCCTCCACTCCCATACTCGGAGTTCCTGTTCTTCTCTCCCC CCTTGCCCG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0017 a0002c0001t0003g0017	1	40	0.0250	108	c.73+ others(125): Show c.73+83413_73+83414insTCCTTGCCCAGACCCCCTCCACTCCCAT ACTCGGAGTTCCTGTTCTTCTCTCCCCCCTTGCCCGGACCCCCTGCACCC CCATACTCGGAGTTCCTGTTCTTCTCTCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	991390	G G	GACCCCCT others(101): Show GACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCCCCTTG CCCACACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCAC CTTGCCCAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0037 a0003c0005t0004g0037	1	40	0.0250	108	c.73+ others(125): Show c.73+83467_73+83468insCCCTTGCCCACACCCCCTGCACCCCCAT ACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCACACCCCCTGCACCC CCATACTCGGAGTTCCTGTTCTTCTCTCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	991456	C C	CCCCATAC others(101): Show CCCCATACTCGGAGTTCCTGTTCTTCTCTCCCCCCTTGCCCAGACCCCCT GCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCCCCTTGCCCAGACC CCCTCCACT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	40	0.0250	108	c.73+ others(125): Show c.73+83521_73+83522insCCCTTGCCCAGACCCCCTGCACCCCCAT ACTCGGAGTTCCTGTTCTTCTCTCCCCCCTTGCCCAGACCCCCTCCACTC CCATACTCGGAGTTCCTGTTCTTCTCTCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	991606	G G	GACCCCCT others(101): Show GACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTG CCCAGACCCCCTCCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCCC CTTGCCCAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0015 a0001c0011t0015	a0001c0011t0015g0002 a0001c0011t0015g0002	1	40	0.0250	108	c.73+ others(125): Show c.73+83683_73+83684insTCCTTGCCCAGACCCCCTCCACCCCCAT ACTCGGAGTTCCTGTTCTTCTCTCCCCCCTTGCCCACACCCCCTGCACCC CCATACTCGGAGTTCCTGTTCTTCTCTCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	991704	T T	TCCTTGCC others(101): Show TCCTTGCCCACACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTC TCCCCCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCT TCTCTCCCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0028 a0002c0001t0005g0028	1	40	0.0250	108	c.73+ others(125): Show c.73+83747_73+83748insCACCCCCTGCACCCCCATACTCGGAGTT CCTGTTCTTCTCTCCCCCCTTGCCCAGACCCCCTGCACCCCCATACTCGG AGTTCCTGTTCTTCTCTCCCACCTTGCCCA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	992469	G G	GGACCCCC others(101): Show GGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTT GCCCACACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCT CCTTGCCCA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	108	c.73+ others(125): Show c.73+84547_73+84548insTCCTTGCCCACACCCCCTGCACCCCCAT ACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCTGCACCC CCATACTCGGAGTTCCTGTTCTTCTCTCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	992577	A A	ACACCCCC others(101): Show ACACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTT GCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCT CCTTGCCTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0037 a0003c0005t0004g0037	1	40	0.0250	108	c.73+ others(125): Show c.73+84611_73+84612insCACCCCCTGCACCCCCATACTCGGAGTT CCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGG AGTTCCTGTTCTTCTCTCCCTCCTTGCCTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	992793	A A	AGACCCCC others(101): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTT GCCCACACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTGCCTG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0035 a0002c0001t0005g0035	1	40	0.0250	108	c.73+ others(125): Show c.73+84871_73+84872insACCTTGCCCACACCCCCTGCACCCCCAT ACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCTGGACCCCCTGCACCC CCATACTCGGAGTTCCTGTTCTTCTCTCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	992793	A A	AGACCCCC others(101): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTT GCCCACACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCT CCTTGCCCG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0037 a0003c0005t0004g0037	1	40	0.0250	108	c.73+ others(125): Show c.73+84871_73+84872insACCTTGCCCACACCCCCTGCACCCCCAT ACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCGGACCCCCTGCACCC CCATACTCGGAGTTCCTGTTCTTCTCTCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	992793	A A	AGACCCCC others(101): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTT GCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCT CCTTGCCCG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	108	c.73+ others(125): Show c.73+84925_73+84926insTCCTTGCCCGGACCCCCTGCACCCCCAT ACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCTGCACCC CCATACTCGGAGTTCCTGTTCTTCTCTCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	993063	A A	AGACCCCC others(101): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTT GCCCAGATCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTGCCCG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0015 a0001c0011t0015	a0001c0011t0015g0002 a0001c0011t0015g0002	1	40	0.0250	108	c.73+ others(125): Show c.73+85153_73+85154insTCCCCTGCACCCCCATACTCGGAGTTCC TGTTCTTCTCTCCCACCTTGCCCGGACCCCCTGCACCCCCATACTCGGAG TTCCTGTTCTTCTCTCCCTCCTTGCCCAGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	993508	C C	CCCCATAC others(101): Show CCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCT GCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACC CCCTCCACT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	108	c.73+ others(125): Show c.73+85573_73+85574insTCCTTGCCCAGACCCCCTGCACCCCCAT ACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTCCACTC CCATACTCGGAGTTCCTGTTCTTCTCTCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1093619	C C	CGACAGCC others(101): Show CGACAGCCAGACAGAAACACTTTCACACTAATAGCCAGACAGAAACACCT TCACACCAACAGCCAGACAGAAACAACTTCACACCAACAGCCAGAAACAC CTTCACACT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0001 a0002c0001t0011g0001	1	40	0.0250	108	c.74- others(127): Show c.74-165218_74-165111dupAAACACTTTCACACTAATAGCCAGAC AGAAACACCTTCACACCAACAGCCAGACAGAAACAACTTCACACCAACAG CCAGAAACACCTTCACACTGACAGCCAGACAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1344090	G G	GGGGCCCT others(101): Show GGGGCCCTGTCGTGGGTCTTTGTACTCGGGGCGCTGTCGTGGGTCCGTGT ACTCGGGGCCCTGTCGTAAGTCCGTGTACTGGGTGCCCTGTCGTGGGTCC GTGTACTGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG02922.hp2 HG02976.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0019 a0002c0001t0002 a0002c0001t0019	a0002c0001t0002g0032 a0002c0001t0019g0030 a0002c0001t0002g0032 a0002c0001t0019g0030	2	40	0.0500	108	c.106 others(127): Show c.106+85224_106+85225insTTTGTACTCGGGGCGCTGTCGTGGGT CCGTGTACTCGGGGCCCTGTCGTAAGTCCGTGTACTGGGTGCCCTGTCGT GGGTCCGTGTACTGTGGGCCCTGTCGTGGGTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1344128	G G	GTGGGTCC others(101): Show GTGGGTCCGTGTACTCGGGGCCCTGTCGTAAGTCCGTGTACTGGGTGCCC TGTCGTGGGTCCGTGTACTGTGGGCCCTGTCGTGGGTCCGTGTACTTGGG GCCCTGTCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	40	0.0250	108	c.106 others(127): Show c.106+85273_106+85274insAAGTCCGTGTACTGGGTGCCCTGTCG TGGGTCCGTGTACTGTGGGCCCTGTCGTGGGTCCGTGTACTTGGGGCCCT GTCCTGGGTCCGTGTACTCGGGGCCCTGTCGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1375073	T T	TCACCTCT others(101): Show TCACCTCTCCACGACCTCAGAACTGATCCCCCACCTCCTACATTTGGGTT AACGACATCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTTG GGTTAACGA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0036 a0001c0012t0004g0036	1	40	0.0250	108	c.106 others(129): Show c.106+116215_106+116216insTCCCCCACCTCCTACATTTGGGTT AACGACATCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTTG GGTTAACGACACCTCTCCACGACCTCAGAACTGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	33009707	T T	TATATGTG others(101): Show TATATGTGTATATGTGTGTATATGTGTATATACACACATATGTGTATATG TGTGTATATGTGTATATACACACATATGTGTATATGTGTGTATATGTGTA TATACACAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0015 a0015	a0015c0056 a0015c0056	a0015c0056t0021 a0015c0056t0021	a0015c0056t0021g0045 a0015c0056t0021g0045	1	126	0.0079	108	c.93+ others(125): Show c.93+10324_93+10431dupGTGTGTATATACACATATACACACATAT ACACATATGTGTGTATATACACATATACACACATATACACATATGTGTGT ATATACACATATACACACATATACACATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DNAAF5_chr7_721699_791475	753958	G G	GTCTCTCT others(101): Show GTCTCTCTCATCATATGGCGATGGCTTCGCAGGCGTGTCTCTCTCATCAT ATGGGGATGGCTTCGCAGGCGTGTCTCTCTGATCATATGGCGACGGCTTC GCAGGCGTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0038 a0001c0004t0001g0038	1	378	0.0027	108	c.102 others(125): Show c.1025-594_1025-593insCTCTCTCATCATATGGGGATGGCTTCGC AGGCGTGTCTCTCTGATCATATGGCGACGGCTTCGCAGGCGTCTCTCTCT CATCATATGGCGATGGCTTCGCAGGCGTGT	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH10_chr12_123757301_123940714	123911625	T T	TGGGGGGG others(101): Show TGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGG GGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGG TCTGTCCTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA21309.hp1 HG02818.hp1 NA21309.hp1	a0057 a0059 a0057 a0059	a0057c0073 a0059c0091 a0057c0073 a0059c0091	a0057c0073t0002 a0059c0091t0002 a0057c0073t0002 a0059c0091t0002	a0057c0073t0002g0123 a0059c0091t0002g0001 a0057c0073t0002g0123 a0059c0091t0002g0001	2	170	0.0118	108	c.101 others(127): Show c.10134+991_10134+992insGTCTGTCCTGGGGGGTCTGTCCTGGG GGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGG GGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912095	G G	GGGGGGGG others(101): Show GGGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCCG GGGGGGTCTGTCCCGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGG GTCTGTCCT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0066 a0001c0066	a0001c0066t0001 a0001c0066t0001	a0001c0066t0001g0132 a0001c0066t0001g0132	1	170	0.0059	108	c.101 others(127): Show c.10135-995_10135-994insGTCTGTCCTGGGGGGGTCTGTCCTGG GGGGGGTCTGTCCCGGGGGGGTCTGTCCCGGGGGGGTCTGTCCTGGGGGG GGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH9_chr17_11593470_11974748	11698182	T T	TATTAATA others(101): Show TATTAATAATATATTATTATATTAATATAATTATATTAATAATATATTAT TATATTAATATAATTATATTAATAATATATTATTATATTAATATAATAAT ATATTATTA	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA19043.hp2 HG04204.hp1 NA19043.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0068 a0001c0001 a0008c0068	a0001c0001t0001 a0008c0068t0001 a0001c0001t0001 a0008c0068t0001	a0001c0001t0001g0088 a0008c0068t0001g0099 a0001c0001t0001g0088 a0008c0068t0001g0099	2	178	0.0112	108	c.487 others(127): Show c.4873-1549_4873-1548insATTAATAATATATTATTATATTAATA TAATTATATTAATAATATATTATTATATTAATATAATTATATTAATAATA TATTATTATATTAATATAATAATATATTATTA	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68			chr17	TogoVar
DNAI1_chr9_34453805_34525984	34492493	G G	GATAGATA others(101): Show GATAGATATAGATATAGATATAGATATATATATATCTATATATATATCTA TAGATATAGATATATATATATAGATATAGATATATATATATATATATATA TAGATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02647.hp1 HG06807.hp2 HG01496.hp2 HG02647.hp1 HG06807.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0230 a0007c0009t0001g0231 a0007c0009t0001g0232 a0007c0009t0001g0230 a0007c0009t0001g0231 a0007c0009t0001g0232	3	382	0.0079	108	c.682 others(123): Show c.682-698_682-697insGATATAGATATAGATATAGATATATATATA TCTATATATATATCTATAGATATAGATATATATATATAGATATAGATATA TATATATATATATATATAGATATATATA	DNAI1	ENSG00000122735.16	transcript	ENST00000242317.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAJC4_chr11_64225548_64239281	64237123	G G	GAGAGAGA others(101): Show GAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG AGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATATAT ATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	108	c.29 others(119): Show c.2939_*2940insAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATA TATATATATATATATATATATATA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2843		chr11	TogoVar
DOCK1_chr10_126900428_127457516	126947606	T T	TTGGTGGT others(101): Show TTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGATGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTAC TGTTGGTGG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0048 a0003c0048	a0003c0048t0003 a0003c0048t0003	a0003c0048t0003g0063 a0003c0048t0003g0063	1	136	0.0074	108	c.47- others(125): Show c.47-23091_47-23090insGTGGTGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK8_chr9_209865_470255	277460	A A	AAGAGAAG others(101): Show AAGAGAAGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAAGGG AAGGGAAGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0013 a0013	a0013c0093 a0013c0093	a0013c0093t0001 a0013c0093t0001	a0013c0093t0001g0009 a0013c0093t0001g0009	1	256	0.0039	108	c.156 others(125): Show c.156+5731_156+5732insAGAGAAGAGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAAGGGAAGGGAAGG	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	2/47			chr9	TogoVar
DOCK8_chr9_209865_470255	400013	T T	TCACCACC others(101): Show TCACCACCTCCTTCACCATCACCAGCACCTCCACCATCACCACCACCTCC ACCATCACCACCACTTCCTTCACCACCACCACCATCTTCACCGTCACCAC CACCTCCAC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0251 a0002c0007t0001g0251	1	256	0.0039	108	c.323 others(125): Show c.3234+761_3234+762insTCCTTCACCATCACCAGCACCTCCACCA TCACCACCACCTCCACCATCACCACCACTTCCTTCACCACCACCACCATC TTCACCGTCACCACCACCTCCACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400566	C C	CCACCACT others(101): Show CCACCACTTCCTTCACCACCACCACCATCTTCACCGTCACCACCACCTCC ACCACCACCACCTCCTCCACCACCACCACCTCCTCCACCATCACCACCAC CTCCACCAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0009 a0003c0001t0009	a0003c0001t0009g0167 a0003c0001t0009g0167	1	256	0.0039	108	c.323 others(127): Show c.3234+1313_3234+1314insTTCCTTCACCACCACCACCATCTTCA CCGTCACCACCACCTCCACCACCACCACCTCCTCCACCACCACCACCTCC TCCACCATCACCACCACCTCCACCATCACCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400602	T T	TCACCACC others(101): Show TCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACTTCC TTCACCACCACCACCATCTTCACCGTCACCACCACCTCCACCACCACCAC CTCCTCCAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0057 a0057	a0057c0130 a0057c0130	a0057c0130t0001 a0057c0130t0001	a0057c0130t0001g0169 a0057c0130t0001g0169	1	256	0.0039	108	c.323 others(127): Show c.3234+1353_3234+1354insTCCACCATCACCACCACCTCCACCAT CACCACCACTTCCTTCACCACCACCACCATCTTCACCGTCACCACCACCT CCACCACCACCACCTCCTCCACCACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400827	T T	TCACCACC others(101): Show TCACCACCTCCTTCACCATCACCACCACCACCACCTCCACTATCACCACC ACCTCCACCATCACCACCTCCTCCATCACCACCACCATCTTCACCATCAC CACCACCTC	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19007.hp2 NA20300.hp2 HG03471.hp1 NA19007.hp2 NA20300.hp2	a0002 a0007 a0002 a0007	a0002c0005 a0002c0077 a0007c0078 a0002c0005 a0002c0077 a0007c0078	a0002c0005t0001 a0002c0077t0003 a0007c0078t0001 a0002c0005t0001 a0002c0077t0003 a0007c0078t0001	a0002c0005t0001g0196 a0002c0077t0003g0018 a0007c0078t0001g0035 a0002c0005t0001g0196 a0002c0077t0003g0018 a0007c0078t0001g0035	3	256	0.0117	108	c.323 others(127): Show c.3234+1573_3234+1574insCCTCCTTCACCATCACCACCACCACC ACCTCCACTATCACCACCACCTCCACCATCACCACCTCCTCCATCACCAC CACCATCTTCACCATCACCACCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400827	T T	TCACCACC others(101): Show TCACCACCTCCTTCACCATCACCATCACCACCACCTCCACTATCACCACC ACCTCCACCATCACCACCTCCTCCATCACCACCACCATCTTCACCATCAC CACCACCTC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0052 a0052	a0052c0136 a0052c0136	a0052c0136t0001 a0052c0136t0001	a0052c0136t0001g0155 a0052c0136t0001g0155	1	256	0.0039	108	c.323 others(127): Show c.3234+1573_3234+1574insCCTCCTTCACCATCACCATCACCACC ACCTCCACTATCACCACCACCTCCACCATCACCACCTCCTCCATCACCAC CACCATCTTCACCATCACCACCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400892	A A	ACCACCGT others(101): Show ACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCACCACCACCAT CGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATA TCACTACCT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0237 a0002c0006t0001g0237	1	256	0.0039	108	c.323 others(127): Show c.3234+1635_3234+1636insACCGTCACCACCTTCTCCACCACCAC CATCTTCACCACCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCA CCTTTCCTATCACCTCCAATATCACTACCTCC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCTCCA others(101): Show CACCTCCACCACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCA TCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATC ACCTCCAAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03225.hp1 HG02965.hp1 HG03225.hp1	a0012 a0058 a0012 a0058	a0012c0163 a0058c0132 a0012c0163 a0058c0132	a0012c0163t0001 a0058c0132t0001 a0012c0163t0001 a0058c0132t0001	a0012c0163t0001g0170 a0058c0132t0001g0066 a0012c0163t0001g0170 a0058c0132t0001g0066	2	256	0.0078	108	c.323 others(127): Show c.3234+1717_3234+1718insCCTCCACCACCACCGTCACCACCTTC TCCACCACCACCATCTTCACCATCACCACCATCGCCCTGCCCACCTCTAG CAATATTATCACCTTTCCTATCACCTCCAATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOK7_chr4_3458306_3499482	3490448	C C	CCTGCTCA others(101): Show CCTGCTCATTCATTCCTTTCTTCTCCCTCTGCTCATTCATTCCTTTCTTC TCCCTCTGCTCATTCATTCCTTTCTTCTCCCTCTGCTCATTCATTCCTTT CTTCTCCCT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp1 HG00741.hp1 HG01891.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0033 a0003c0003t0004 a0003c0003t0033	a0003c0003t0004g0331 a0003c0003t0033g0086 a0003c0003t0004g0331 a0003c0003t0033g0086	2	404	0.0050	108	c.772 others(123): Show c.772+696_772+697insTCTTCTCCCTCTGCTCATTCATTCCTTTCT TCTCCCTCTGCTCATTCATTCCTTTCTTCTCCCTCTGCTCATTCATTCCT TTCTTCTCCCTCTGCTCATTCATTCCTT	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DPEP1_chr16_89608642_89643433	89638681	A A	ACCCCACC others(101): Show ACCCCACCCCTGCACACACACACACACACACCGCACCCCTGCACACACAC ACATACCCCACCCCTGCACACACACACACACACACCCCACCCCTGCACAC ACACACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	250	0.0040	108	c.45 others(117): Show c.459_*460insCCCCACCCCTGCACACACACACACACACACCGCACC CCTGCACACACACACATACCCCACCCCTGCACACACACACACACACACCC CACCCCTGCACACACACACACC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding		249		chr16	TogoVar
DPH1_chr17_2025153_2048898	2034761	C C	CCTCCCCT others(101): Show CCTCCCCTGCTGCCCCCTCCCCTCCTCCCCCACTCCCCTGCTCCCCCCTC CCCTGCTGCCCCCTCCCCTCCTCCCCCACTCCCCTGCTGCCCCCTCCCCT CCTCCCCCA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	392	0.0026	108	c.278 others(123): Show c.278+960_278+961insCCCCCCTCCCCTGCTGCCCCCTCCCCTCCT CCCCCACTCCCCTGCTGCCCCCTCCCCTCCTCCCCCACTCCCCTGCTGCC CCCTCCCCTCCTCCCCCACTCCCCTGCT	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DPP10_chr2_114437641_115850780	115439134	A A	AAGCACAG others(101): Show AAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGGGAGCACAGTGTGGA ATAGTGGCTAAGATGGTCATGGGAGCACAGTGTGGAATAGTGGCTAAGAT GGTCATGGG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	56	0.0179	108	c.272 others(127): Show c.272-60308_272-60201dupATGGGAGCACAGTGTGGAATAGTGGC TAAGATGGTCATGGGAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGG GAGCACAGTGTGGAATAGTGGCTAAGATGGTC	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP6_chr7_154047398_154899285	154668197	T T	TTATATAT others(101): Show TTATATATATATATATGTGTGTGTATATATATATATATATATATATATAT ATATATGTGTGTATATATATATATATATGTGTGTATATATATATATGTAT ATATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0007 a0001c0020 a0001c0007 a0001c0020	a0001c0007t0019 a0001c0020t0001 a0001c0007t0019 a0001c0020t0001	a0001c0007t0019g0037 a0001c0020t0001g0010 a0001c0007t0019g0037 a0001c0020t0001g0010	2	38	0.0526	108	c.681 others(125): Show c.681-1148_681-1147insGTGTGTGTATATATATATATATATATAT ATATATATATATGTGTGTATATATATATATATATGTGTGTATATATATAT ATGTATATATATATATATATATATATATAT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DRC3_chr17_17967862_18021889	18007150	A A	AGGCGGGG others(101): Show AGGCGGGGCGGGCGGAGCATGTCGGGGAAGGGCTGGATGGAGTTGGACTG GGTGGGGAAGGGGCGGAGATGGGGCGGGGCGGGGGGGGGGAGCTGGGAGG GAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02257.hp1 HG02717.hp2 others(1): Show HG01934.hp1 HG02257.hp1 HG02717.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0010 a0002c0002t0004 a0002c0002t0010	a0002c0002t0004g0003 a0002c0002t0004g0044 a0002c0002t0010g0043 a0002c0002t0004g0003 a0002c0002t0004g0044 a0002c0002t0010g0043	4	324	0.0124	108	c.132 others(123): Show c.1326+15_1326+16insGGAGCATGTCGGGGAAGGGCTGGATGGAGT TGGACTGGGTGGGGAAGGGGCGGAGATGGGGCGGGGCGGGGGGGGGGAGC TGGGAGGGAGGGGAGGGGCGGGGCGGGC	DRC3	ENSG00000171962.19	transcript	ENST00000399187.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DUS3L_chr19_5780140_5796163	5796129	G G	GCCTTCTT others(101): Show GCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01952.hp2 HG00323.hp2 HG01952.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0007 a0002c0001t0002g0001 a0002c0001t0002g0007	2	364	0.0055	108	c.-49 others(119): Show c.-4989_-4988insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGG	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding		4967		chr19	TogoVar
DUSP2_chr2_96138169_96150440	96138624	T T	TCTCCACC others(101): Show TCTCCACCTGCAGCCCCGCCCCAACCATCTCCACCTGCAGCCCCGCCCCA ACCATCTCCACCTGCAGCCCCGCCCCAACCATCTCCACCTGCAGCCCCGC CCCAACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	108	c.51 others(119): Show c.5198_*5199insGTGGTTGGGGCGGGGCTGCAGGTGGAGATGGTTG GGGCGGGGCTGCAGGTGGAGATGGTTGGGGCGGGGCTGCAGGTGGAGATG GTTGGGGCGGGGCTGCAGGTGGAG	DUSP2	ENSG00000158050.5	transcript	ENST00000288943.5	protein_coding		4544		chr2	TogoVar
DYM_chr18_49031387_49465645	49440572	A A	ATATATAT others(101): Show ATATATATAATATATGACTATATATTATATATATATAACATATGACTATA TATTATATATATATAACATATGACTATATATTATATATATATAACATATG ACTATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG03704.hp2 HG04199.hp2 HG01516.hp1 HG03704.hp2 HG04199.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0005 a0004c0008t0005 a0001c0001t0005 a0004c0008t0005	a0001c0001t0005g0262 a0001c0001t0005g0265 a0004c0008t0005g0263 a0001c0001t0005g0262 a0001c0001t0005g0265 a0004c0008t0005g0263	3	290	0.0103	108	c.-53 others(127): Show c.-53-10126_-53-10125insATATATAGTCATATGTTATATATATA TAATATATAGTCATATGTTATATATATATAATATATAGTCATATGTTATA TATATATAATATATAGTCATATATTATATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EFNA5_chr5_107371894_107675937	107476047	T T	TATATATA others(101): Show TATATATATATGTATACATATATATATATGTATGTATATATATATATATA TACATATATATGTATATATATATATACATATATATATGTATATATATATA TATGTATAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18906.hp2 HG02922.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0050 a0001c0001t0003 a0001c0001t0050	a0001c0001t0003g0130 a0001c0001t0050g0111 a0001c0001t0003g0130 a0001c0001t0050g0111	2	190	0.0105	108	c.126 others(127): Show c.126-48539_126-48538insGTATACATATATATATATATACATAT ATATATGTATATATATATATACATATATATGTATATATATATATATATAC ATACATATATATATATGTATACATATATATAT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar

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Search Results (Total: 10000 hits)