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
DIDO1_chr20_62872743_62931505	62875314	G G	GCACCCTC others(46): Show GCACCCTCACCCCCACCCTCACCCTCACCCGCACCCGCACCCCCACCCTC ACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0144 a0002c0011t0001g0144	1	320	0.0031	53	c.39 others(64): Show c.3918_*3919insGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGT GAGGGTGGGGGTGAGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2428		chr20	TogoVar
DIP2B_chr12_50499985_50753657	50593850	C C	CCCTCCCG others(46): Show CCCTCCCGTCCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTC CCCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18747.hp1 HG00673.hp1 NA18747.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0026 a0001c0003t0002g0032 a0001c0003t0002g0026 a0001c0003t0002g0032	2	284	0.0070	53	c.101 others(72): Show c.101-32120_101-32119insGTCCCCTTCCCTCCCCTCCCCTCCCC TCCCCTCTCCTCCCCTCCCCTCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	608183	C C	CCCACAGC others(46): Show CCCACAGCCCCCCACACACAGCCCCTACACACACACACACACACACAGCC CCTA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0076 a0001c0007t0002g0076	1	88	0.0114	53	c.85+ others(70): Show c.85+81310_85+81311insTAGGGGCTGTGTGTGTGTGTGTGTGTGT AGGGGCTGTGTGTGGGGGGCTGTGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608183	C C	CCCACAGC others(46): Show CCCACAGCCCCCCACACACAGCCCCTACACACACACACACACAGCCCCTA CACA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0077 a0001c0007t0002g0077	1	88	0.0114	53	c.85+ others(70): Show c.85+81310_85+81311insTGTGTAGGGGCTGTGTGTGTGTGTGTGT AGGGGCTGTGTGTGGGGGGCTGTGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(46): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0134 a0001c0003t0004g0134	1	400	0.0025	53	c.558 others(68): Show c.558+251_558+252insAAAAAAAAAAATATATATATATATATATAT ATATATATATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(46): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0176 a0001c0003t0004g0176	1	400	0.0025	53	c.558 others(68): Show c.558+251_558+252insAAAAAAATATATATATATATATATATATAT ATATATATATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(46): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT ATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0069 a0001c0003t0069	a0001c0003t0069g0003 a0001c0003t0069g0003	1	396	0.0025	53	c.36 others(64): Show c.3697_*3698insAAAAAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATA	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	8/8	3698	INFO_REALIGN_3_PRIME	chr15	TogoVar
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(46): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT ATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0073 a0010c0016t0073	a0010c0016t0073g0030 a0010c0016t0073g0030	1	396	0.0025	53	c.36 others(64): Show c.3697_*3698insAAAAAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATATATATATA	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	8/8	3698	INFO_REALIGN_3_PRIME	chr15	TogoVar
DISP3_chr1_11474155_11542551	11524900	T T	TCTCCCCC others(46): Show TCTCCCCCACCATCCCTGCCACCCCATCTCTGTGCCCACTATCTCCCTCA CCAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0297 a0001c0005t0004g0297	1	358	0.0028	53	c.247 others(70): Show c.2477-248_2477-196dupTCTGTGCCCACTATCTCCCTCACCACCT CCCCCACCATCCCTGCCACCCCATC	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAT others(46): Show AAAAAAATATATATATATATATATATATATATATATATATATATATATAT ATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0269 a0002c0002t0002g0269	1	336	0.0030	53	c.51 others(64): Show c.5150_*5151insAAAAAATATATATATATATATATATATATATATA TATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLC1_chr8_13078361_13519851	13188843	A A	ATATATAT others(46): Show ATATATATATGTATATATATATATATATATATATATGTATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0003 a0001c0019t0003	a0001c0019t0003g0043 a0001c0019t0003g0043	1	212	0.0047	53	c.134 others(74): Show c.1349-73187_1349-73186insATATATATATATATATACATATAT ATATATATATATATATATACATATATATA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13479826	G G	GAAGAGAA others(46): Show GAAGAGAAAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGGAAAAGAAAGAA AGAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	212	0.0047	53	c.102 others(74): Show c.1023+19222_1023+19223insTTCTTTCTTTCTTTTCCTTTTCTT TTCTTTCTTTCTTTCTTTCTTTTTCTCTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13479829	G G	GAAGAGAA others(46): Show GAAGAGAAAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGGAAAAGAAAGAA AGAA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0125 a0001c0004t0003g0125	1	212	0.0047	53	c.102 others(74): Show c.1023+19219_1023+19220insTTCTTTCTTTCTTTTCCTTTTCTT TTCTTTCTTTCTTTCTTTCTTTTTCTCTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13479835	G G	GAAGAGAA others(46): Show GAAGAGAAAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGGAAAAGAAAGAA AGAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 homoSapiens_chm13v2.hp1 HG00099.hp2 HG00423.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0003 a0002c0002t0002 a0001c0004t0003 a0002c0002t0002	a0001c0004t0003g0120 a0002c0002t0002g0070 a0002c0002t0002g0130 a0001c0004t0003g0120 a0002c0002t0002g0070 a0002c0002t0002g0130	3	212	0.0142	53	c.102 others(74): Show c.1023+19213_1023+19214insTTCTTTCTTTCTTTTCCTTTTCTT TTCTTTCTTTCTTTCTTTCTTTTTCTCTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLGAP2_chr8_732628_1713476	839973	T T	TGAGCGCG others(46): Show TGAGCGCGTCCACACGGTGCACGCCTGCACGTCTCCCCACACTCTGGATT CTGC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	40	0.0250	53	c.19- others(70): Show c.19-67631_19-67579dupCTGGATTCTGCGAGCGCGTCCACACGGT GCACGCCTGCACGTCTCCCCACACT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	839973	T T	TGAGCGCG others(46): Show TGAGCGCGTCTACACGGTGCACGCCTGCACGTCTCCCCACACTCTGGATT CTGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02976.hp2 HG03710.hp2 others(1): Show HG02258.hp2 HG02976.hp2 HG03710.hp2 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0004c0008 a0001c0002 a0001c0003 a0004c0008	a0001c0002t0001 a0001c0002t0010 a0001c0003t0006 others(1): Show a0001c0002t0001 a0001c0002t0010 a0001c0003t0006 a0004c0008t0016	a0001c0002t0001g0015 a0001c0002t0010g0008 a0001c0003t0006g0033 others(1): Show a0001c0002t0001g0015 a0001c0002t0010g0008 a0001c0003t0006g0033 a0004c0008t0016g0029	4	40	0.1000	53	c.19- others(70): Show c.19-67930_19-67929insTACACGGTGCACGCCTGCACGTCTCCCC ACACTCTGGATTCTGCGAGCGCGTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	977747	G G	GGCTGGGT others(46): Show GGCTGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTG AGGT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	40	0.0250	53	c.73+ others(70): Show c.73+69834_73+69886dupTGCTGGGTTCTGGTCTTTGGTGTTGTGG GGAGGGCGTCGGGGATGCAGTGAGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	977858	C C	CGTTCTGG others(46): Show CGTTCTGGTCTTTGGTGACGTGGGGAGGGCGTCGGGGATGCAGTGAGGAG CTGG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	40	0.0250	53	c.73+ others(70): Show c.73+69908_73+69909insACGTGGGGAGGGCGTCGGGGATGCAGTG AGGAGCTGGGTTCTGGTCTTTGGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	977888	G G	GTCGGGGA others(46): Show GTCGGGGATGCAGTGAGGGGCTGGGTTCTGGTCTTTGGTGTTGTGGGGAG GGCA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	40	0.0250	53	c.73+ others(70): Show c.73+69944_73+69945insGGTTCTGGTCTTTGGTGTTGTGGGGAGG GCATCGGGGATGCAGTGAGGGGCTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	978223	G G	GGGCTGGG others(46): Show GGGCTGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGT GAGA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	40	0.0250	53	c.73+ others(70): Show c.73+70309_73+70310insAGGCTGGGTTCTGGTCTTTGGTGTTGTG GGGAGGGCGTCGGGGATGCAGTGAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	978300	T T	TGTGGGGA others(46): Show TGTGGGGAGGGCGTCGGGGATGCAGTGAGGGGCTGGGTTCTGGTCTTTGG TGAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02074.hp1 NA20300.hp2 HG01071.hp2 HG02074.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0006 a0002c0001t0011 a0002c0001t0020 a0001c0002t0006 a0002c0001t0011 a0002c0001t0020	a0001c0002t0006g0011 a0002c0001t0011g0001 a0002c0001t0020g0024 a0001c0002t0006g0011 a0002c0001t0011g0001 a0002c0001t0020g0024	3	40	0.0750	53	c.73+ others(70): Show c.73+70363_73+70364insGGCTGGGTTCTGGTCTTTGGTGACGTGG GGAGGGCGTCGGGGATGCAGTGAGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	978385	C C	GTGGGTTC others(46): Show GTGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAG GGGC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	40	0.0250	53	c.73+ others(70): Show c.73+70418_73+70419insGTGGGTTCTGGTCTTTGGTGTTGTGGGG AGGGCGTCGGGGATGCAGTGAGGGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	990907	C C	CCCTCCAC others(46): Show CCCTCCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCA GACT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0028 a0002c0001t0005g0028	1	40	0.0250	53	c.73+ others(70): Show c.73+82943_73+82944insTCCACCCCCATACTCGGAGTTCCTGTTC TTCTCTCCCTCCTTGCCCAGACTCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	991821	G G	GGACCCCT others(46): Show GGACCCCTCCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTG CCCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	40	0.0250	53	c.73+ others(70): Show c.73+83861_73+83862insTCCACCCCCATACTCGGAGTTCCTGTTC TTCTCTCCCTCCTTGCCCAGACCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	992644	C C	CCCCATAC others(46): Show CCCCATACTCGGAGTTCCTGTTCTCTCTCCCTCCTTGCCCAGACCCCCTC CACT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0005 a0001c0002t0023g0005	1	40	0.0250	53	c.73+ others(70): Show c.73+84701_73+84702insCTCTCCCTCCTTGCCCAGACCCCCTCCA CTCCCATACTCGGAGTTCCTGTTCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	993238	C C	CCCCATAC others(46): Show CCCCATACTCGGAGTTCCTGTTCTCTCTCCCTCCTTGCCCGGACCCCCTC CACT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0005 a0001c0002t0023g0005	1	40	0.0250	53	c.73+ others(70): Show c.73+85295_73+85296insCTCTCCCTCCTTGCCCGGACCCCCTCCA CTCCCATACTCGGAGTTCCTGTTCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1275848	T T	TATATATA others(46): Show TATATATAATATATAAATATATATAATATATAAATATATATAATATATAA ATAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01496.hp1 HG02071.hp1 others(1): Show HG01071.hp1 HG01496.hp1 HG02071.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0011 a0002c0004 a0001c0003 a0001c0011 a0002c0004	a0001c0003t0001 a0001c0011t0015 a0002c0004t0003 others(1): Show a0001c0003t0001 a0001c0011t0015 a0002c0004t0003 a0002c0004t0026	a0001c0003t0001g0025 a0001c0011t0015g0002 a0002c0004t0003g0009 others(1): Show a0001c0003t0001g0025 a0001c0011t0015g0002 a0002c0004t0003g0009 a0002c0004t0026g0016	4	40	0.1000	53	c.106 others(72): Show c.106+17000_106+17001insTATATAATATATAAATAAATATATAA TATATAAATATATATAATATATAAATA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1442578	C C	CTGTGGGT others(46): Show CTGTGGGTTCAGCCACTGGGGGAGACGGATCGGGGCGTAGACCCGCCAGG CTGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0008 a0002c0007t0008	a0002c0007t0008g0040 a0002c0007t0008g0040	1	40	0.0250	53	c.107 others(72): Show c.107-58753_107-58752insGTAGACCCGCCAGGCTGATGTGGGTT CAGCCACTGGGGGAGACGGATCGGGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1449935	G G	GGCGGAGC others(46): Show GGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGTCCTCGGTGGCTGTGAC TGTA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0009 a0002c0004t0003g0009	1	40	0.0250	53	c.107 others(72): Show c.107-51399_107-51398insTCCTCGGTGGCTGTGACTGTAGCGGA GCTGTGAGGGTGAAGACGAGGTGGGCG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1467118	G G	GGTCCGGC others(46): Show GGTCCGGCAGGGGCCTGGGAGGGTCAGTCCCAGATCCAGCCAGAGGGAGG GAGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp2 HG02258.hp1 others(3): Show HG01496.hp2 HG01891.hp2 HG02258.hp1 HG02895.hp1 HG02922.hp1 HG03516.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0001 a0003c0005 a0001c0003 a0002c0001 a0003c0005	a0001c0003t0001 a0001c0003t0014 a0002c0001t0005 others(2): Show a0001c0003t0001 a0001c0003t0014 a0002c0001t0005 a0003c0005t0002 a0003c0005t0004	a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0014g0020 others(3): Show a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0014g0020 a0002c0001t0005g0028 a0003c0005t0002g0031 a0003c0005t0004g0037	6	40	0.1500	53	c.107 others(72): Show c.107-34199_107-34198insGAGAGTCCGGCAGGGGCCTGGGAGGG TCAGTCCCAGATCCAGCCAGAGGGAGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1467123	G G	GGCAGGGG others(46): Show GGCAGGGGCCTGGGAGGGTCAGTCCCAGATCCAGCCAGAGGGAGGGAGAG TCCA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	53	c.107 others(72): Show c.107-34199_107-34198insGAGAGTCCAGCAGGGGCCTGGGAGGG TCAGTCCCAGATCCAGCCAGAGGGAGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1507807	T T	TCCACCCA others(46): Show TCCACCCACCACCCTCCCCCCACCCACGACCCTCCTTCACCCACCACCCT CCCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	40	0.0250	53	c.172 others(70): Show c.172+6393_172+6394insCCCACCCACGACCCTCCTTCACCCACCA CCCTCCCCCCACCCACCACCCTCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAAF4_chr15_55425308_55513234	55473400	A A	AAAAATAT others(46): Show AAAAATATTAAAATTATAATACACCTTAATCAAATAGGGGTAACTTAACC TAGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0323 a0005c0004t0003g0323	1	338	0.0030	53	c.406 others(70): Show c.406-6292_406-6240dupCCTAGGTTAAGTTACCCCTATTTGATTA AGGTGTATTATAATTTTAATATTTT	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	4/9			chr15	TogoVar
DNAAF6_chrX_107201611_107249247	107204706	A A	ATTTTTAA others(46): Show ATTTTTAAATAAATTATTTATTTAAATAAATTTTAAATAAATTATTTAAA TAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	296	0.0034	53	c.-19 others(64): Show c.-1988_-1987insTTTTTAAATAAATTATTTATTTAAATAAATTTTA AATAAATTATTTAAATAAA	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding		1904		chrX	TogoVar
DNAH3_chr16_20928111_21155846	21067772	G G	GGGGGGGG others(46): Show GGGGGGGGGAGGGAGGGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01261.hp2 HG02004.hp1 others(3): Show HG00438.hp2 HG01261.hp2 HG02004.hp1 NA18957.hp2 NA18972.hp1 NA18973.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0001c0013 a0001c0083 others(1): Show a0001c0001 a0001c0013 a0001c0083 a0015c0019	a0001c0001t0001 a0001c0013t0001 a0001c0083t0001 others(1): Show a0001c0001t0001 a0001c0013t0001 a0001c0083t0001 a0015c0019t0001	a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0227 others(3): Show a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0013t0001g0072 a0001c0083t0001g0171 a0015c0019t0001g0106	6	234	0.0256	53	c.324 others(70): Show c.3244-354_3244-353insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCCCTCTCCCTCCCTCCCCCCCC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61			chr16	TogoVar
DNAI7_chr12_25103289_25200160	25174407	G G	GATATATA others(46): Show GATATATATATCATATATATCATATATATGGGATATATATATCATATATA TCAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG02135.hp1 others(5): Show HG00408.hp2 HG00558.hp1 HG02135.hp1 NA18950.hp1 NA18981.hp1 NA19002.hp2 NA19003.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0051 others(5): Show a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0145 a0001c0005t0001g0064 a0001c0005t0001g0144 a0001c0005t0001g0147	8	336	0.0238	53	c.22- others(70): Show c.22-13211_22-13210insATGATATATATGATATATATATCCCATA TATATGATATATATGATATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DNAI7_chr12_25103289_25200160	25174489	C C	CATATATA others(46): Show CATATATATCATATATATGGGATATATATCCCATATATATCATATATATG GGAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0317 a0003c0003t0001g0317	1	336	0.0030	53	c.22- others(70): Show c.22-13293_22-13292insATCCCATATATATGATATATATGGGATA TATATCCCATATATATGATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DNAI7_chr12_25103289_25200160	25174553	T T	TATATATG others(46): Show TATATATGGGATATATATATCATATATATCCCATATATATGGGATATATA TATC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03195.hp2 HG03471.hp2 others(1): Show HG03041.hp2 HG03195.hp2 HG03471.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 others(1): Show a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239	4	336	0.0119	53	c.22- others(70): Show c.22-13357_22-13356insGATATATATATCCCATATATATGGGATA TATATGATATATATATCCCATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DNAJB6_chr7_157332004_157422439	157357289	T T	TCCCTTCC others(46): Show TCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTCCCTC CCTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	372	0.0027	53	c.-26 others(70): Show c.-26-1256_-26-1255insCTTCCCTCCCTTCCCTCCCTTCCCTCCC TTCCCTCCCTCCCTCCCTCCCTCCC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157370182	A A	AGGCCCCT others(46): Show AGGCCCCTTCTTAACATTATTATTAAATGGGACCCTTCTTAAGATTATTA AACG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	372	0.0027	53	c.346 others(70): Show c.346+2725_346+2726insTGGGACCCTTCTTAAGATTATTAAACGG GCCCCTTCTTAACATTATTATTAAA	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157418917	G G	GTGCTGCA others(46): Show GTGCTGCAGATAGAGCCCGCGGCTGCTTATGCCAGCATCTGCTGAGGGGG TGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18998.hp1 NA19010.hp2 others(4): Show NA18984.hp2 NA18998.hp1 NA19010.hp2 NA19067.hp1 NA19080.hp1 NA19081.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0197 a0001c0001t0002g0164 a0001c0001t0002g0179 others(4): Show a0001c0001t0001g0197 a0001c0001t0002g0164 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0224 a0001c0001t0002g0254	7	372	0.0188	53	c.28 others(64): Show c.2819_*2820insTGCTGCAGATAGAGCCCGCGGCTGCTTATGCCAG CATCTGCTGAGGGGGTGGA	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding		1479		chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157418917	G G	GTGCTGCA others(46): Show GTGCTGCAGATAGAGCCCGCGGCTGCTTATGCCAGCGTCTGCTGAGGGGA TGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	372	0.0027	53	c.28 others(64): Show c.2819_*2820insTGCTGCAGATAGAGCCCGCGGCTGCTTATGCCAG CGTCTGCTGAGGGGATGGA	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding		1479		chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157418917	G G	GTGCTGCA others(46): Show GTGCTGCAGATAGAGCCCGCGGCTGCTTATGCCAGCGTCTGCTGAGGGGG TGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00544.hp1 others(113): Show HG00099.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01192.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02647.hp2 HG02717.hp1 HG02738.hp2 HG02886.hp2 HG02965.hp2 HG03017.hp1 HG03225.hp2 HG03492.hp1 HG03540.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18948.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp2 NA18967.hp1 NA18977.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19058.hp1 NA19060.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp2 NA19081.hp2 NA19090.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0017	a0001c0001t0001g0295 a0001c0001t0001g0309 a0001c0001t0001g0350 others(113): Show a0001c0001t0001g0295 a0001c0001t0001g0309 a0001c0001t0001g0350 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0141 a0001c0001t0002g0155 a0001c0001t0002g0167 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0255 a0001c0001t0002g0260 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0290 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0318 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0325 a0001c0001t0002g0340 a0001c0001t0002g0343 a0001c0001t0002g0357 a0001c0001t0002g0359 a0001c0001t0002g0364 a0001c0001t0005g0010 a0001c0001t0005g0057 a0001c0001t0005g0066 a0001c0001t0005g0165 a0001c0001t0005g0188 a0001c0001t0005g0190 a0001c0001t0005g0191 a0001c0001t0005g0326 a0001c0001t0007g0187 a0001c0001t0007g0243 a0001c0001t0007g0269 a0001c0001t0008g0070 a0001c0001t0008g0088 a0001c0001t0008g0349 a0001c0001t0008g0355 a0001c0001t0014g0344 a0001c0001t0017g0277	116	372	0.3118	53	c.28 others(64): Show c.2819_*2820insTGCTGCAGATAGAGCCCGCGGCTGCTTATGCCAG CGTCTGCTGAGGGGGTGGA	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding		1479		chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157418935	G G	GCGGCTGC others(46): Show GCGGCTGCTTATGCCAGCGTCTGCTGAGGGGGTGGATGCTGCAGATAGAG CCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG03453.hp1 HG03579.hp1 others(2): Show HG02615.hp1 HG03453.hp1 HG03579.hp1 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0184 a0001c0001t0001g0185 others(2): Show a0001c0001t0001g0123 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0329 a0001c0001t0001g0371	5	372	0.0134	53	c.28 others(64): Show c.2837_*2838insCGGCTGCTTATGCCAGCGTCTGCTGAGGGGGTGG ATGCTGCAGATAGAGCCCA	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding		1497		chr7	TogoVar
DNAJC25_chr9_111626334_111659345	111641242	C C	CGCCCGGC others(46): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCC CCCT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0289 a0002c0005t0001g0289	1	412	0.0024	53	c.337 others(70): Show c.337-5865_337-5864insGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGGGGTCAGCCCCCCT	DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3			chr9	TogoVar
DNAJC3_chr13_95672139_95799988	95723902	G G	GTGACAGA others(46): Show GTGACAGATGTGTGAACAGGGAGGGACTCATGAGGTAGAACTCAGGTGGG GCTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0024 a0001c0001t0046g0024	1	374	0.0027	53	c.318 others(68): Show c.318+538_318+590dupGACAGATGTGTGAACAGGGAGGGACTCATG AGGTAGAACTCAGGTGGGGCTTT	DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC4_chr11_64225548_64239281	64237126	G G	GAGAGAGA others(46): Show GAGAGAGAGAGAGAGAGAGAGAGAGACAGAGACAGAGACAGACAGAGACA GACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	338	0.0030	53	c.29 others(64): Show c.2942_*2943insAGAGAGAGAGAGAGAGAGAGAGAGACAGAGACAG AGACAGACAGAGACAGACA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2846		chr11	TogoVar
DNAJC4_chr11_64225548_64239281	64237126	G G	GAGAGAGA others(46): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAGACA GACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 NA19083.hp2 HG02293.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	338	0.0059	53	c.29 others(64): Show c.2942_*2943insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAG AGACAGACAGAGACAGACA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2846		chr11	TogoVar
DOCK3_chr3_50669927_51389198	51015742	T T	TATCATAT others(46): Show TATCATATATATGATATATATATCATATATATGATATATATATGATATAT ATGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	212	0.0047	53	c.316 others(72): Show c.316-48706_316-48705insATCATATATATGATATATATATCATA TATATGATATATATATGATATATATGA	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOCK3_chr3_50669927_51389198	51015953	T T	TATGATAT others(46): Show TATGATATATATATCATATATATGAAATATATGATATATATGATATATAT ATCA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	212	0.0047	53	c.316 others(72): Show c.316-48495_316-48494insATGATATATATATCATATATATGAAA TATATGATATATATGATATATATATCA	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar

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Search Results (Total: 10000 hits)