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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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
DENND6B_chr22_50304030_50332012	50307773	G G	GGAGGGGG others(39): Show GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00438.hp2 others(69): Show HG00099.hp1 HG00099.hp2 HG00438.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG01071.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01517.hp1 HG01934.hp1 HG01975.hp2 HG02040.hp2 HG02080.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp2 HG02559.hp1 HG02683.hp1 HG02735.hp1 HG02809.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18966.hp1 NA18967.hp2 NA18971.hp1 NA18992.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19054.hp1 NA19057.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0024 others(4): Show a0001c0001 a0001c0003 a0001c0024 a0002c0002 a0002c0008 a0002c0015 a0006c0021	a0001c0001t0001 a0001c0001t0033 a0001c0001t0035 others(12): Show a0001c0001t0001 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0003t0001 a0001c0024t0001 a0002c0002t0001 a0002c0002t0010 a0002c0002t0015 a0002c0002t0019 a0002c0002t0037 a0002c0008t0001 a0002c0008t0039 a0002c0015t0001 a0006c0021t0001	a0001c0001t0001g0082 a0001c0001t0001g0119 a0001c0001t0001g0158 others(69): Show a0001c0001t0001g0082 a0001c0001t0001g0119 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0033g0043 a0001c0001t0035g0165 a0001c0001t0036g0028 a0001c0003t0001g0215 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0227 a0001c0003t0001g0228 a0001c0003t0001g0232 a0001c0003t0001g0233 a0001c0003t0001g0239 a0001c0003t0001g0240 a0001c0003t0001g0248 a0001c0003t0001g0250 a0001c0003t0001g0253 a0001c0003t0001g0258 a0001c0024t0001g0197 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0235 a0002c0002t0001g0244 a0002c0002t0001g0254 a0002c0002t0001g0261 a0002c0002t0001g0268 a0002c0002t0001g0272 a0002c0002t0001g0276 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0283 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0290 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0298 a0002c0002t0001g0300 a0002c0002t0001g0302 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0310 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0321 a0002c0002t0010g0277 a0002c0002t0010g0295 a0002c0002t0010g0297 a0002c0002t0015g0222 a0002c0002t0015g0234 a0002c0002t0019g0292 a0002c0002t0019g0301 a0002c0002t0037g0282 a0002c0008t0001g0229 a0002c0008t0001g0230 a0002c0008t0001g0231 a0002c0008t0001g0243 a0002c0008t0001g0245 a0002c0008t0001g0257 a0002c0008t0039g0236 a0002c0015t0001g0048 a0006c0021t0001g0278	72	326	0.2209	46	c.43 others(57): Show c.4365_*4366insTTCCCCCTCCCCCTCTTCCCCCTCCCCTCCCCCT CCCCTCCCCCTC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1256		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50317020	C C	CAGGATGG others(39): Show CAGGATGGGGGGCCGCGAGGACAGGGTGGGGGGGGCGGCGAGGACAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0019 a0003c0007t0007g0019	1	326	0.0031	46	c.453 others(61): Show c.453+272_453+273insCTGTCCTCGCCGCCCCCCCCACCCTGTCCT CGCGGCCCCCCATCCT	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENR_chr12_122747824_122776064	122769309	C C	CATATATG others(39): Show CATATATGTATACATATATACACATATATGTATACATATATACACAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG02965.hp2 HG02559.hp2 HG02615.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0044 a0001c0001t0014 a0001c0001t0044	a0001c0001t0014g0073 a0001c0001t0014g0074 a0001c0001t0044g0029 a0001c0001t0014g0073 a0001c0001t0014g0074 a0001c0001t0044g0029	3	364	0.0082	46	c.23 others(55): Show c.235_*236insATGTATACATATATACACATATATGTATACATATAT ACACATATAT	DENR	ENSG00000139726.11	transcript	ENST00000280557.11	protein_coding	8/8	236	INFO_REALIGN_3_PRIME	chr12	TogoVar
DESI1_chr22_41593028_41626043	41594335	G G	GGGTGGGG others(39): Show GGGTGGGGGGGTGGGGGGGCGGTGGGGGGGTGGGGGGGTGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	308	0.0033	46	c.67 others(57): Show c.6761_*6762insGCCCCCCCACCCCCCCACCCCCCCACCGCCCCCC CACCCCCCCACC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3692		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(39): Show TGTGTGTGTGTGTGCGCGCGCGCAGCAGCGCGCGCGCGCACGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	392	0.0026	46	c.-28 others(57): Show c.-2845_-2844insGCGTGCGTGCGCGCGCGCGCTGCTGCGCGCGCGC ACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(39): Show TGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGAGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	392	0.0026	46	c.-28 others(57): Show c.-2845_-2844insGCATGCGCGCGCTCGCGCGCGCACACACACACAC ACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(39): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	392	0.0026	46	c.-28 others(57): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCGCACACACACACACAC ACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(39): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	46	c.-28 others(57): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCACACACACACACACAC ACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DHODH_chr16_72003744_72032659	72028039	T T	TCTCAACT others(39): Show TCTCAACTAACAGGATTGAACCATCGTTTTGAAGGAGCAGTTTTGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0035 a0002c0002t0035	a0002c0002t0035g0010 a0002c0002t0035g0010	1	414	0.0024	46	c.38 others(57): Show c.3840_*3841insCTCAACTAACAGGATTGAACCATCGTTTTGAAGG AGCAGTTTTGAA	DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding		381		chr16	TogoVar
DHX40_chr17_59560610_59613345	59570062	T T	TTATATTA others(39): Show TTATATTATAATGTATATTTATATATAATATATAGTATATATTATAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0160 a0001c0002t0001g0160	1	324	0.0031	46	c.281 others(61): Show c.281-423_281-378dupAGTATATATTATAATATATTATAATGTATA TTTATATATAATATAT	DHX40	ENSG00000108406.10	transcript	ENST00000251241.9	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
DIAPH1_chr5_141510021_141624000	141591712	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01099.hp2 HG02027.hp2 others(4): Show HG00609.hp2 HG01099.hp2 HG02027.hp2 NA18994.hp2 NA19060.hp2 NA19066.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0043 others(4): Show a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0276 a0001c0001t0001g0301	7	336	0.0208	46	c.118 others(63): Show c.118-3463_118-3462insAATATATATAAATATATATATATATATA TATATATATATATATATA	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH2_chrX_96679842_97609997	96939668	A A	ATTTTTTT others(39): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19088.hp1 NA18953.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0024 a0001c0001t0010g0028 a0001c0001t0001g0024 a0001c0001t0010g0028	2	147	0.0136	46	c.132 others(63): Show c.1325+300_1325+301insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIP2C_chr10_269201_694668	371673	G G	GCAGAGCA others(39): Show GCAGAGCAGCACCCGAGGGAGGCTGGGGTGAGGCCTGGGGTGGATCA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp1 HG02027.hp2 others(10): Show HG00609.hp2 HG00673.hp1 HG02027.hp2 HG02071.hp2 HG02280.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG03130.hp1 NA18747.hp2 NA18970.hp1 NA19007.hp1 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0009 others(2): Show a0001c0003 a0001c0004 a0001c0009 a0001c0018 a0001c0019	a0001c0003t0002 a0001c0004t0003 a0001c0009t0001 others(3): Show a0001c0003t0002 a0001c0004t0003 a0001c0009t0001 a0001c0009t0003 a0001c0018t0003 a0001c0019t0006	a0001c0003t0002g0021 a0001c0003t0002g0032 a0001c0003t0002g0040 others(10): Show a0001c0003t0002g0021 a0001c0003t0002g0032 a0001c0003t0002g0040 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0062 a0001c0003t0002g0065 a0001c0003t0002g0069 a0001c0004t0003g0078 a0001c0009t0001g0007 a0001c0009t0003g0003 a0001c0018t0003g0011 a0001c0019t0006g0014	13	88	0.1477	46	c.199 others(65): Show c.1992-2041_1992-2040insTGATCCACCCCAGGCCTCACCCCAGC CTCCCTCGGGTGCTGCTCTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	17/36			chr10	TogoVar
DIP2C_chr10_269201_694668	541120	G G	GGGGAGCC others(39): Show GGGGAGCCACAACACCCGATGCTGGGGAGCCACAACACCCGATGCTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	88	0.0114	46	c.86- others(63): Show c.86-54591_86-54590insAAGCATCGGGTGTTGTGGCTCCCCAGCA TCGGGTGTTGTGGCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	587675	G G	GGAAACCC others(39): Show GGAAACCCCACATCCACACCAGGCACTGCCTCAGCCCTGACCCTCCT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	88	0.0114	46	c.86- others(65): Show c.86-101191_86-101146dupAGGAGGGTCAGGGCTGAGGCAGTGCC TGGTGTGGATGTGGGGTTTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608203	C C	CACACACA others(39): Show CACACACACACACACACACACAGCCCCTACACACACACACAGCCCCT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	88	0.0114	46	c.85+ others(63): Show c.85+81290_85+81291insAGGGGCTGTGTGTGTGTGTAGGGGCTGT GTGTGTGTGTGTGTGTGT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608584	C C	CACACACA others(39): Show CACACACACACACATCCCCCCCCCACACACACACATCCCCCCCCACA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	88	0.0114	46	c.85+ others(63): Show c.85+80909_85+80910insTGTGGGGGGGGATGTGTGTGTGTGGGGG GGGGATGTGTGTGTGTGT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK1A_chr1_92837167_92966462	92846811	A A	ATGTGTGT others(39): Show ATGTGTGTATATATATATATATGTATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0004 a0003c0009t0004	a0003c0009t0004g0200 a0003c0009t0004g0200	1	200	0.0050	46	c.474 others(61): Show c.474+371_474+372insCATATATATATATATATATATATACATATA TATATATATACACACA	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	4/4			chr1	TogoVar
DIPK1A_chr1_92837167_92966462	92846819	A A	ATATATAT others(39): Show ATATATATATGTGTGTGTATATATATATATATATATACACACACACG	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0114	1	200	0.0050	46	c.474 others(61): Show c.474+363_474+364insCGTGTGTGTGTATATATATATATATATATA CACACACATATATATA	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	4/4			chr1	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0151 a0001c0003t0004g0151	1	400	0.0025	46	c.558 others(61): Show c.558+251_558+252insAAAAAAAAAAAATATATATATATATATATA TATATATATATATATA	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(39): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0188 a0001c0001t0003g0188	1	400	0.0025	46	c.558 others(61): Show c.558+251_558+252insAAAAAAAAAATATATATATATATATATATA TATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DISC1_chr1_231621790_232046272	231907088	T T	TTTCCTCC others(39): Show TTTCCTCCCTCCCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02647.hp1 HG03130.hp1 others(1): Show HG02273.hp1 HG02647.hp1 HG03130.hp1 NA18522.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0012 a0002c0004 a0003c0002 others(1): Show a0001c0012 a0002c0004 a0003c0002 a0003c0007	a0001c0012t0017 a0002c0004t0003 a0003c0002t0005 others(1): Show a0001c0012t0017 a0002c0004t0003 a0003c0002t0005 a0003c0007t0006	a0001c0012t0017g0039 a0002c0004t0003g0026 a0003c0002t0005g0019 others(1): Show a0001c0012t0017g0039 a0002c0004t0003g0026 a0003c0002t0005g0019 a0003c0007t0006g0021	4	40	0.1000	46	c.198 others(67): Show c.1982-51739_1982-51738insTCCTCCCTCCCTTCCTTCCTTCCC TCCCTCCCTTCCTTCCTTCCCT	DISC1	ENSG00000162946.24	transcript	ENST00000439617.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18982.hp2 NA19005.hp1 NA18982.hp2 NA19005.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0035 a0001c0003t0035	a0001c0003t0035g0003 a0001c0003t0035g0013 a0001c0003t0035g0003 a0001c0003t0035g0013	2	396	0.0051	46	c.36 others(57): Show c.3697_*3698insAAAAAAAAAAAAAAAAAATATATATATATATATA TATATATATATA	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	8/8	3698	INFO_REALIGN_3_PRIME	chr15	TogoVar
DKK2_chr4_106916802_107041313	107032970	A A	AAACTATA others(39): Show AAACTATAGAATAAAAAGATATAATAAATATATAGAATAAAAAGAAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02809.hp1 others(2): Show HG01070.hp1 HG01071.hp2 HG02809.hp1 HG02922.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0014	a0001c0001t0001g0207 a0001c0001t0002g0046 a0001c0001t0011g0087 others(2): Show a0001c0001t0001g0207 a0001c0001t0002g0046 a0001c0001t0011g0087 a0001c0001t0011g0088 a0001c0001t0014g0003	5	218	0.0229	46	c.222 others(63): Show c.222+2399_222+2400insATTCTTTTTATTCTATATATTTATTATA TCTTTTTATTCTATAGTT	DKK2	ENSG00000155011.9	transcript	ENST00000285311.8	protein_coding	1/3			chr4	TogoVar
DLC1_chr8_13078361_13519851	13219380	T T	TTACATTT others(39): Show TTACATTTCATATAATTATACTTATATAATTCATATAATTATACTTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG03098.hp2 others(1): Show HG02109.hp2 HG02559.hp1 HG03098.hp2 NA20300.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0011 a0002c0006 others(1): Show a0001c0001 a0001c0011 a0002c0006 a0008c0010	a0001c0001t0042 a0001c0011t0003 a0002c0006t0035 others(1): Show a0001c0001t0042 a0001c0011t0003 a0002c0006t0035 a0008c0010t0013	a0001c0001t0042g0042 a0001c0011t0003g0049 a0002c0006t0035g0016 others(1): Show a0001c0001t0042g0042 a0001c0011t0003g0049 a0002c0006t0035g0016 a0008c0010t0013g0190	4	212	0.0189	46	c.134 others(67): Show c.1348+85888_1348+85889insTAAGTATAATTATATGAATTATAT AAGTATAATTATATGAAATGTA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13506582	T T	TGTGTGTG others(39): Show TGTGTGTGTGTATATATATATATATATACACGTATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02970.hp1 HG03139.hp2 others(1): Show HG02622.hp1 HG02970.hp1 HG03139.hp2 HG03195.hp1	a0007 a0022 a0007 a0022	a0007c0016 a0007c0031 a0022c0028 a0007c0016 a0007c0031 a0022c0028	a0007c0016t0005 a0007c0016t0021 a0007c0031t0005 others(1): Show a0007c0016t0005 a0007c0016t0021 a0007c0031t0005 a0022c0028t0022	a0007c0016t0005g0005 a0007c0016t0021g0003 a0007c0031t0005g0004 others(1): Show a0007c0016t0005g0005 a0007c0016t0021g0003 a0007c0031t0005g0004 a0022c0028t0022g0002	4	212	0.0189	46	c.-12 others(65): Show c.-125-6387_-125-6386insGTATATATATATATACGTGTATATAT ATATATATATACACACACAC	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	1/17			chr8	TogoVar
DLEC1_chr3_38034208_38129025	38053589	G G	GCCCGGCC others(39): Show GCCCGGCCAGCCACCCAGTCCAGGAGGGAGGTGGGGGGCAGCCCCCA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp1 HG01074.hp2 others(12): Show HG00621.hp2 HG00642.hp1 HG01074.hp2 HG01433.hp2 HG02004.hp2 HG02055.hp1 HG02083.hp1 HG02109.hp2 HG02630.hp2 HG02895.hp2 HG02896.hp2 HG03579.hp1 HG03669.hp2 NA20752.hp1 NA20752.hp2	a0001 a0017 a0001 a0017	a0001c0004 a0001c0013 a0001c0018 others(4): Show a0001c0004 a0001c0013 a0001c0018 a0001c0028 a0001c0029 a0001c0039 a0017c0049	a0001c0004t0001 a0001c0004t0002 a0001c0013t0001 others(5): Show a0001c0004t0001 a0001c0004t0002 a0001c0013t0001 a0001c0018t0002 a0001c0028t0001 a0001c0029t0005 a0001c0039t0001 a0017c0049t0002	a0001c0004t0001g0214 a0001c0004t0002g0206 a0001c0004t0002g0207 others(12): Show a0001c0004t0001g0214 a0001c0004t0002g0206 a0001c0004t0002g0207 a0001c0004t0002g0208 a0001c0004t0002g0209 a0001c0004t0002g0210 a0001c0004t0002g0211 a0001c0004t0002g0216 a0001c0004t0002g0219 a0001c0013t0001g0215 a0001c0018t0002g0163 a0001c0028t0001g0218 a0001c0029t0005g0135 a0001c0039t0001g0149 a0017c0049t0002g0212	15	298	0.0503	46	c.563 others(63): Show c.563-6142_563-6141insACCCAGTCCAGGAGGGAGGTGGGGGGCA GCCCCCACCCGGCCAGCC	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
DLEC1_chr3_38034208_38129025	38053589	G G	GCCCGGCC others(39): Show GCCCGGCCAGCCGCCCAGTCCAGGAGGGAGGTGGGGGGCAGCCCCCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00621.hp1 others(28): Show HG00280.hp2 HG00423.hp1 HG00621.hp1 HG00741.hp2 HG01167.hp2 HG01169.hp1 HG01261.hp1 HG01891.hp1 HG01934.hp2 HG02074.hp1 HG02165.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02976.hp2 HG03098.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG04199.hp2 NA18522.hp1 NA19043.hp2 NA19062.hp2 NA20300.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0012 a0013 a0016 a0019 a0021 a0022 a0026	a0001c0026 a0001c0031 a0002c0001 others(11): Show a0001c0026 a0001c0031 a0002c0001 a0002c0005 a0002c0057 a0002c0059 a0003c0006 a0012c0062 a0013c0061 a0016c0051 a0019c0036 a0021c0027 a0022c0035 a0026c0032	a0001c0026t0002 a0001c0031t0003 a0002c0001t0001 others(13): Show a0001c0026t0002 a0001c0031t0003 a0002c0001t0001 a0002c0001t0002 a0002c0001t0006 a0002c0005t0001 a0002c0057t0001 a0002c0059t0001 a0003c0006t0002 a0012c0062t0002 a0013c0061t0001 a0016c0051t0002 a0019c0036t0003 a0021c0027t0001 a0022c0035t0001 a0026c0032t0002	a0001c0026t0002g0138 a0001c0031t0003g0029 a0002c0001t0001g0031 others(28): Show a0001c0026t0002g0138 a0001c0031t0003g0029 a0002c0001t0001g0031 a0002c0001t0001g0034 a0002c0001t0001g0035 a0002c0001t0001g0036 a0002c0001t0001g0037 a0002c0001t0001g0038 a0002c0001t0001g0039 a0002c0001t0001g0103 a0002c0001t0001g0105 a0002c0001t0001g0127 a0002c0001t0002g0125 a0002c0001t0006g0065 a0002c0005t0001g0032 a0002c0057t0001g0033 a0002c0059t0001g0106 a0003c0006t0002g0137 a0003c0006t0002g0140 a0003c0006t0002g0141 a0003c0006t0002g0142 a0003c0006t0002g0143 a0003c0006t0002g0146 a0003c0006t0002g0147 a0012c0062t0002g0134 a0013c0061t0001g0030 a0016c0051t0002g0145 a0019c0036t0003g0009 a0021c0027t0001g0220 a0022c0035t0001g0139 a0026c0032t0002g0144	31	298	0.1040	46	c.563 others(63): Show c.563-6138_563-6137insAGTCCAGGAGGGAGGTGGGGGGCAGCCC CCACCCGGCCAGCCGCCC	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
DLEC1_chr3_38034208_38129025	38053589	G G	GCCCGGCC others(39): Show GCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGCAGCCCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(136): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp1 HG01069.hp2 HG01070.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18952.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19079.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp2 NA21309.hp1	a0001 a0002 a0004 others(11): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0023 a0024 a0025 a0027 a0028	a0001c0002 a0001c0003 a0001c0014 others(23): Show a0001c0002 a0001c0003 a0001c0014 a0001c0016 a0001c0018 a0001c0030 a0001c0038 a0001c0041 a0001c0042 a0001c0045 a0001c0046 a0002c0005 a0002c0020 a0002c0021 a0004c0008 a0005c0011 a0006c0010 a0007c0012 a0008c0015 a0009c0017 a0010c0064 a0023c0047 a0024c0044 a0025c0043 a0027c0048 a0028c0040	a0001c0002t0001 a0001c0002t0002 a0001c0003t0003 others(27): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0003 a0001c0003t0004 a0001c0014t0005 a0001c0016t0003 a0001c0016t0009 a0001c0018t0001 a0001c0030t0001 a0001c0038t0001 a0001c0041t0001 a0001c0042t0003 a0001c0045t0001 a0001c0046t0001 a0002c0005t0001 a0002c0005t0003 a0002c0020t0001 a0002c0021t0001 a0004c0008t0001 a0005c0011t0001 a0006c0010t0001 a0007c0012t0002 a0008c0015t0001 a0009c0017t0001 a0010c0064t0003 a0023c0047t0001 a0024c0044t0001 a0025c0043t0001 a0027c0048t0001 a0028c0040t0001	a0001c0002t0001g0006 a0001c0002t0001g0150 a0001c0002t0001g0151 others(133): Show a0001c0002t0001g0006 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0221 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0236 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0268 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0283 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0290 a0001c0002t0002g0183 a0001c0003t0003g0154 a0001c0003t0003g0155 a0001c0003t0003g0157 a0001c0003t0003g0158 a0001c0003t0003g0199 a0001c0003t0003g0200 a0001c0003t0003g0201 a0001c0003t0004g0011 a0001c0003t0004g0164 a0001c0003t0004g0165 a0001c0003t0004g0187 a0001c0003t0004g0198 a0001c0003t0004g0202 a0001c0014t0005g0007 a0001c0016t0003g0281 a0001c0016t0009g0282 a0001c0018t0001g0263 a0001c0030t0001g0280 a0001c0038t0001g0008 a0001c0041t0001g0278 a0001c0042t0003g0279 a0001c0045t0001g0159 a0001c0046t0001g0284 a0002c0005t0001g0026 a0002c0005t0001g0108 a0002c0005t0001g0126 a0002c0005t0001g0130 a0002c0005t0003g0004 a0002c0020t0001g0024 a0002c0020t0001g0025 a0002c0021t0001g0027 a0002c0021t0001g0111 a0004c0008t0001g0234 a0004c0008t0001g0259 a0004c0008t0001g0270 a0004c0008t0001g0273 a0004c0008t0001g0291 a0005c0011t0001g0176 a0005c0011t0001g0237 a0005c0011t0001g0238 a0005c0011t0001g0239 a0006c0010t0001g0136 a0006c0010t0001g0247 a0006c0010t0001g0253 a0006c0010t0001g0254 a0007c0012t0002g0153 a0007c0012t0002g0196 a0007c0012t0002g0197 a0008c0015t0001g0167 a0008c0015t0001g0169 a0009c0017t0001g0243 a0009c0017t0001g0252 a0010c0064t0003g0129 a0023c0047t0001g0267 a0024c0044t0001g0156 a0025c0043t0001g0269 a0027c0048t0001g0195 a0028c0040t0001g0235	139	298	0.4664	46	c.563 others(63): Show c.563-6137_563-6136insGTCCAGGAGGGAGGTGGGGGGCAGCCCC CACCCGGCCAGCCGCCCC	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
DLEC1_chr3_38034208_38129025	38053589	G G	GCCCGGCC others(39): Show GCCCGGCCAGCTGCCCCGTCCAGGAGGGAGGTGGGGGGCAGCCCCCA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0289 a0001c0002t0001g0289	1	298	0.0034	46	c.563 others(63): Show c.563-6143_563-6142insTGCCCCGTCCAGGAGGGAGGTGGGGGGC AGCCCCCACCCGGCCAGC	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
DLG1_chr3_197037560_197303612	197070565	A A	ATTTTTTT others(39): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0286 a0001c0001t0004g0286	1	332	0.0030	46	c.200 others(65): Show c.2006-1306_2006-1305insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	18/24			chr3	TogoVar
DLG4_chr17_7182187_7222627	7184629	G G	GTGTGTGT others(39): Show GTGTGTGTATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0125 a0001c0002t0125	a0001c0002t0125g0158 a0001c0002t0125g0158	1	376	0.0027	46	c.60 others(57): Show c.6078_*6079insTATATATATATATATATATATATATATATATATA TATATACACACA	DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding		2557		chr17	TogoVar
DLG5_chr10_77785791_77931755	77916904	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19067.hp2 HG02615.hp2 NA19067.hp2	a0001 a0002 a0001 a0002	a0001c0010 a0002c0016 a0001c0010 a0002c0016	a0001c0010t0001 a0002c0016t0004 a0001c0010t0001 a0002c0016t0004	a0001c0010t0001g0158 a0002c0016t0004g0119 a0001c0010t0001g0158 a0002c0016t0004g0119	2	331	0.0060	46	c.304 others(63): Show c.304+9312_304+9313insATATATATATATATATATATATATATAT ATATATATATATATATAT	DLG5	ENSG00000151208.17	transcript	ENST00000372391.7	protein_coding	1/31			chr10	TogoVar
DLGAP1_chr18_3491032_4460307	3551176	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	80	0.0125	46	c.205 others(67): Show c.2057+16313_2057+16314insGTATATATATATATATATATATAT ATATATATATATATATATATAT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	9/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3600989	T T	TATATATA others(39): Show TATATATAGATATATAGATATATATAGATATATAGATAGATATATAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03471.hp2 HG02258.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0042 a0001c0002t0030 a0001c0001t0042 a0001c0002t0030	a0001c0001t0042g0080 a0001c0002t0030g0014 a0001c0001t0042g0080 a0001c0002t0030g0014	2	80	0.0250	46	c.159 others(67): Show c.1592-18742_1592-18741insCTATATATCTATCTATATATCTAT ATATATCTATATATCTATATAT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3674824	T T	TCCACCAC others(39): Show TCCACCACAATCATCACCCCCATTCACCTCCACTATCAGTACCGAGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02257.hp2 HG02258.hp2 others(14): Show HG01106.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02572.hp1 HG02622.hp1 HG02717.hp2 HG03130.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 NA18522.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0027 a0001c0001t0037 a0001c0001t0038 a0001c0001t0042 a0001c0002t0007 a0001c0002t0008 a0001c0002t0030 a0001c0003t0010 a0001c0003t0023 a0001c0004t0014 a0001c0004t0015 a0001c0004t0032	a0001c0001t0001g0044 a0001c0001t0002g0017 a0001c0001t0003g0068 others(14): Show a0001c0001t0001g0044 a0001c0001t0002g0017 a0001c0001t0003g0068 a0001c0001t0003g0076 a0001c0001t0013g0060 a0001c0001t0027g0024 a0001c0001t0037g0063 a0001c0001t0038g0075 a0001c0001t0042g0080 a0001c0002t0007g0022 a0001c0002t0008g0037 a0001c0002t0030g0014 a0001c0003t0010g0040 a0001c0003t0023g0015 a0001c0004t0014g0058 a0001c0004t0015g0062 a0001c0004t0032g0065	17	80	0.2125	46	c.159 others(67): Show c.1591+54310_1591+54311insGCTCGGTACTGATAGTGGAGGTGA ATGGGGGTGATGATTGTGGTGG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3674948	C C	CTATCAGT others(39): Show CTATCAGTACCGAGTCCACCACAATCATCACCCCCATTCACCTCCAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02257.hp2 HG02258.hp2 others(14): Show HG01106.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02572.hp1 HG02622.hp1 HG02717.hp2 HG03130.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 NA18522.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0027 a0001c0001t0037 a0001c0001t0038 a0001c0001t0042 a0001c0002t0007 a0001c0002t0008 a0001c0002t0030 a0001c0003t0010 a0001c0003t0023 a0001c0004t0014 a0001c0004t0015 a0001c0004t0032	a0001c0001t0001g0044 a0001c0001t0002g0017 a0001c0001t0003g0068 others(14): Show a0001c0001t0001g0044 a0001c0001t0002g0017 a0001c0001t0003g0068 a0001c0001t0003g0076 a0001c0001t0013g0060 a0001c0001t0027g0024 a0001c0001t0037g0063 a0001c0001t0038g0075 a0001c0001t0042g0080 a0001c0002t0007g0022 a0001c0002t0008g0037 a0001c0002t0030g0014 a0001c0003t0010g0040 a0001c0003t0023g0015 a0001c0004t0014g0058 a0001c0004t0015g0062 a0001c0004t0032g0065	17	80	0.2125	46	c.159 others(67): Show c.1591+54186_1591+54187insATGGAGGTGAATGGGGGTGATGAT TGTGGTGGACTCGGTACTGATA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	1164340	G G	GCCCCCCA others(39): Show GCCCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGATTTTTCTGTGAGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0025 a0001c0010t0025	a0001c0010t0025g0012 a0001c0010t0025g0012	1	40	0.0250	46	c.74- others(63): Show c.74-94508_74-94507insCCCAGGGCCCGTCGTTTTGGTTTGTGGG GATTTTTCTGTGAGCCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1227153	G G	GATATATA others(39): Show GATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	40	0.0250	46	c.74- others(63): Show c.74-31677_74-31676insTATATATATATATATATATATATATATA TATATATATATATATATA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1417628	C C	CCTCCAGG others(39): Show CCTCCAGGGGGCCACGGGGAGCCCCACTCCTGCCTCACTCAGCGAGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0033 a0001c0003t0006g0033	1	40	0.0250	46	c.107 others(65): Show c.107-83728_107-83727insCCACGGGGAGCCCCACTCCTGCCTCA CTCAGCGAGGCTCCAGGGGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1417639	G G	GCACAGGG others(39): Show GCACAGGGAGCCACACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0022 a0002c0001t0003g0022	1	40	0.0250	46	c.107 others(65): Show c.107-83724_107-83723insAGGGAGCCACACTCCTGCCTCACTCA GCGAGGCTCCAGGGGGCCAC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1417651	C C	CCACTCCT others(39): Show CCACTCCTGCCTCACTCGGCGAGGCTCCAGGGGGGCACGGGAGGCCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0028 a0002c0001t0005g0028	1	40	0.0250	46	c.107 others(65): Show c.107-83699_107-83698insGGCGAGGCTCCAGGGGGGCACGGGAG GCCTCACTCCTGCCTCACTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1417689	A A	AGGGGGCC others(39): Show AGGGGGCCCCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCACG	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	46	c.107 others(65): Show c.107-83653_107-83652insAGCGAGGCTCCAGGGGGGCACGGGGG GCCCCACTCCTGCCTCACTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP3_chr1_34860436_34934650	34906016	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG04228.hp1 NA18950.hp2 HG01346.hp2 HG04228.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0202 a0001c0001t0001g0257 a0001c0001t0001g0094 a0001c0001t0001g0202 a0001c0001t0001g0257	3	266	0.0113	46	c.-51 others(61): Show c.-51-583_-51-582insTATATATATATATATATATATATATATATA TATATATATATATATA	DLGAP3	ENSG00000116544.12	transcript	ENST00000373347.6	protein_coding	2/11			chr1	TogoVar
DMD_chrX_31114222_33216549	31293163	G G	GGTGTGTG others(39): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0009 a0008c0010t0009	a0008c0010t0009g0004 a0008c0010t0009g0004	1	126	0.0079	46	c.922 others(67): Show c.9224+30434_9224+30435insACACACACACACACACACACACAC ACACACACACACACACACACAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31394938	T T	TGAGAGAG others(39): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0054 a0001c0054	a0001c0054t0001 a0001c0054t0001	a0001c0054t0001g0100 a0001c0054t0001g0100	1	126	0.0079	46	c.908 others(67): Show c.9085-46305_9085-46304insTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	60/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32252677	A A	AATATATA others(39): Show AATATATATAAATATATATATAAATATATATAAATATATATATAAAT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19068.hp1 NA19070.hp1 NA18971.hp1 NA19068.hp1 NA19070.hp1	a0006 a0011 a0016 a0006 a0011 a0016	a0006c0032 a0011c0049 a0016c0028 a0006c0032 a0011c0049 a0016c0028	a0006c0032t0003 a0011c0049t0001 a0016c0028t0005 a0006c0032t0003 a0011c0049t0001 a0016c0028t0005	a0006c0032t0003g0077 a0011c0049t0001g0073 a0016c0028t0005g0028 a0006c0032t0003g0077 a0011c0049t0001g0073 a0016c0028t0005g0028	3	126	0.0238	46	c.629 others(67): Show c.6290+34851_6290+34852insATTTATATATATATTTATATATAT TTATATATATATTTATATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	43/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32483164	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18994.hp1 HG00673.hp1 NA18994.hp1	a0001 a0024 a0001 a0024	a0001c0002 a0024c0038 a0001c0002 a0024c0038	a0001c0002t0001 a0024c0038t0001 a0001c0002t0001 a0024c0038t0001	a0001c0002t0001g0088 a0024c0038t0001g0053 a0001c0002t0001g0088 a0024c0038t0001g0053	2	126	0.0159	46	c.280 others(65): Show c.2803+1754_2803+1755insGTATATATATATATATATATATATAT ATATATATATATATATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	21/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33008804	G G	GTATATAT others(39): Show GTATATATGTGTATATATACGTATATATACACATAAATGTATACGTA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03225.hp1 HG02965.hp1 HG03225.hp1	a0002 a0003 a0002 a0003	a0002c0052 a0003c0014 a0002c0052 a0003c0014	a0002c0052t0025 a0003c0014t0010 a0002c0052t0025 a0003c0014t0010	a0002c0052t0025g0095 a0003c0014t0010g0015 a0002c0052t0025g0095 a0003c0014t0010g0015	2	126	0.0159	46	c.93+ others(63): Show c.93+11334_93+11335insTACGTATACATTTATGTGTATATATACG TATATATACACATATATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DNAAF3_chr19_55153665_55171613	55168406	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0050 a0002c0003t0001g0050	1	398	0.0025	46	c.-18 others(57): Show c.-1889_-1888insCTCTCTCTCTCTCTCTCTATATATATATATATAT ATATATATATAT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1794		chr19	TogoVar

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