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
DCLK1_chr13_35763652_36136382	35976525	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0084 a0001c0001t0014g0084	1	230	0.0044	31	c.724 others(50): Show c.724-29069_724-29068insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150251007	A A	ATCCCCCA others(24): Show ATCCCCCACACCCCCCACACATCCCCCACACC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	116	0.0086	31	c.207 others(50): Show c.2073+1323_2073+1324insTCCCCCACACCCCCCACACATCCCCC ACACC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DCLK2_chr4_150073445_150262438	150251015	T T	TCCCCCTC others(24): Show TCCCCCTCACACCCCCCAACACCCCCACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0030 a0001c0009t0007g0030	1	116	0.0086	31	c.207 others(50): Show c.2073+1336_2073+1337insTCACACCCCCCAACACCCCCACACAC CCCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCP2_chr5_112971798_113027195	112984693	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0107 a0001c0002t0014g0107	1	364	0.0028	31	c.54- others(46): Show c.54-1142_54-1141insTATATATATATATATATATATATATATATA T	DCP2	ENSG00000172795.17	transcript	ENST00000389063.3	protein_coding	1/10			chr5	TogoVar
DCP2_chr5_112971798_113027195	112984699	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0123 a0001c0001t0030g0123	1	364	0.0028	31	c.54- others(46): Show c.54-1136_54-1135insTATATATATATATATATATATATATATATA T	DCP2	ENSG00000172795.17	transcript	ENST00000389063.3	protein_coding	1/10			chr5	TogoVar
DCP2_chr5_112971798_113027195	112984701	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0078 a0001c0002t0002g0078	1	364	0.0028	31	c.54- others(46): Show c.54-1134_54-1133insTATATATATATATATATATATATATATATA T	DCP2	ENSG00000172795.17	transcript	ENST00000389063.3	protein_coding	1/10			chr5	TogoVar
DCP2_chr5_112971798_113027195	112984703	A A	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0129 a0001c0002t0025g0129	1	364	0.0028	31	c.54- others(46): Show c.54-1131_54-1130insATATATATATATATATATATATATATATAT A	DCP2	ENSG00000172795.17	transcript	ENST00000389063.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
DCP2_chr5_112971798_113027195	112984703	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19043.hp2 HG01243.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0066 a0001c0002t0002g0021 a0001c0002t0002g0066	2	364	0.0055	31	c.54- others(46): Show c.54-1132_54-1131insTATATATATATATATATATATATATATATA T	DCP2	ENSG00000172795.17	transcript	ENST00000389063.3	protein_coding	1/10			chr5	TogoVar
DDA1_chr19_17304563_17328298	17315303	T T	TGTATATA others(24): Show TGTATATATATACACGCTATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0130 a0001c0001t0006g0130	1	388	0.0026	31	c.137 others(46): Show c.137-603_137-573dupACACGTATATATATACACGCTATATATATA C	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDA1_chr19_17304563_17328298	17315376	C C	CACGTATA others(24): Show CACGTATATATATACACACTATATATATACAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0245 a0001c0001t0028g0245	1	388	0.0026	31	c.137 others(46): Show c.137-553_137-523dupATATATATACACACTATATATATACATACG T	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDHD2_chr8_38226585_38267836	38265494	T T	TGTTGCCC others(24): Show TGTTGCCCAGGCTGGAGTGCAGTGGCGCGATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	254	0.0039	31	c.49 others(42): Show c.4921_*4922insGTTGCCCAGGCTGGAGTGCAGTGGCGCGATC	DDHD2	ENSG00000085788.14	transcript	ENST00000397166.7	protein_coding		2659		chr8	TogoVar
DDR2_chr1_162627464_162792405	162658829	A A	AAATAAAT others(24): Show AAATAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01256.hp2 HG01258.hp1 others(6): Show HG00609.hp1 HG01256.hp2 HG01258.hp1 HG02071.hp1 HG02165.hp2 NA18960.hp1 NA18974.hp1 NA19086.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0024 a0001c0002t0001 a0001c0001t0002 a0001c0001t0024 a0001c0002t0001	a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0059 others(5): Show a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0059 a0001c0001t0024g0002 a0001c0002t0001g0046 a0001c0002t0001g0198 a0001c0002t0001g0200 a0001c0002t0001g0273	9	302	0.0298	31	c.-28 others(48): Show c.-28+3457_-28+3458insTAAATAAATAAATAAATAAATAAATAAA TAA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDR2_chr1_162627464_162792405	162689841	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	302	0.0033	31	c.-27 others(50): Show c.-27-29196_-27-29195insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	2/17			chr1	TogoVar
DDR2_chr1_162627464_162792405	162728034	T T	TCTATATA others(24): Show TCTATATATATCTATATATAGATATAATCACA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02965.hp2 HG03209.hp1 others(1): Show HG02451.hp1 HG02965.hp2 HG03209.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0044 a0001c0001t0015 a0001c0001t0044	a0001c0001t0015g0135 a0001c0001t0015g0136 a0001c0001t0015g0137 others(1): Show a0001c0001t0015g0135 a0001c0001t0015g0136 a0001c0001t0015g0137 a0001c0001t0044g0093	4	302	0.0133	31	c.82+ others(46): Show c.82+8977_82+9007dupATCACACTATATATATCTATATATAGATAT A	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDX10_chr11_108660069_108945927	108837607	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0170 a0002c0002t0001g0170	1	320	0.0031	31	c.196 others(48): Show c.1966-834_1966-804dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
DDX10_chr11_108660069_108945927	108837642	T T	TTTTTTTT others(24): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0171 a0002c0002t0001g0171	1	320	0.0031	31	c.196 others(48): Show c.1966-804_1966-803insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTA	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	13/17			chr11	TogoVar
DDX11_chr12_31068860_31109799	31108550	A A	AAATAAAT others(24): Show AAATAAATAAATAAATAAATAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 NA18966.hp1 NA18979.hp1 others(3): Show HG02071.hp1 NA18966.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0245 a0001c0001t0001g0269 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0245 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0278	6	418	0.0144	31	c.47 others(42): Show c.4714_*4715insAATAAATAAATAAATAAATAAATAAATAAAT	DDX11	ENSG00000013573.17	transcript	ENST00000542838.6	protein_coding		3752		chr12	TogoVar
DDX19A_chr16_70341903_70378383	70357366	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0201 a0001c0001t0014g0201	1	392	0.0026	31	c.293 others(48): Show c.293+1125_293+1155dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	DDX19A	ENSG00000168872.17	transcript	ENST00000302243.12	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0180 a0001c0001t0011g0180	1	336	0.0030	31	c.58 others(42): Show c.5810_*5811insAAAAAAAAAAAAAAAAAAAATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 NA18947.hp2 HG00558.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0209 a0001c0001t0001g0001 a0001c0001t0001g0209	2	336	0.0060	31	c.58 others(42): Show c.5810_*5811insAAAAAAAAAAAAAATATATATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	336	0.0030	31	c.58 others(42): Show c.5810_*5811insAAAAAAAAAAAATATATATATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX60L_chr4_168351735_168485492	168459821	A A	AAGGAAGG others(24): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp2 NA18961.hp1 NA18961.hp2	a0005 a0055 a0005 a0055	a0005c0008 a0055c0050 a0005c0008 a0055c0050	a0005c0008t0001 a0055c0050t0001 a0005c0008t0001 a0055c0050t0001	a0005c0008t0001g0189 a0055c0050t0001g0062 a0005c0008t0001g0189 a0055c0050t0001g0062	2	268	0.0075	31	c.607 others(48): Show c.607-1814_607-1813insCCCTCCTTCCTTCCTTCCTTCCTTCCTT CCT	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	5/37			chr4	TogoVar
DDX60_chr4_168211294_168323752	168286422	C C	CACACCCC others(24): Show CACACCCCACACGAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02056.hp2 NA19055.hp2 others(1): Show HG01952.hp1 HG02056.hp2 NA19055.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0226 a0002c0002t0001g0235 a0002c0002t0001g0238 others(1): Show a0002c0002t0001g0226 a0002c0002t0001g0235 a0002c0002t0001g0238 a0002c0002t0001g0247	4	270	0.0148	31	c.133 others(48): Show c.1339+625_1339+626insTCTATCTATCTATCTATCTCGTGTGGGG TGT	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	10/37			chr4	TogoVar
DEAF1_chr11_639233_700222	690342	A A	AGGGGAGG others(24): Show AGGGGAGGGCAGGGGAGGGCAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	345	0.0029	31	c.387 others(48): Show c.387+1158_387+1159insCTCCCCTCCCCTGCCCTCCCCTGCCCTC CCC	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690352	A A	AGGGGAGG others(24): Show AGGGGAGGGCAGGGGAGGGGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	345	0.0029	31	c.387 others(48): Show c.387+1148_387+1149insCTCCCCTCCCCTCCCCTCCCCTGCCCTC CCC	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEFA1B_chr8_6991766_7004198	6993379	T T	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0042 a0001c0006t0001g0042	1	398	0.0025	31	c.35 others(42): Show c.3507_*3508insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	DEFA1B	ENSG00000240247.8	transcript	ENST00000382689.8	protein_coding		3386		chr8	TogoVar
DEFB106B_chr8_7477504_7491400	7484162	A A	ATATACTA others(24): Show ATATACTAGAGTATTATAATAGTATATATACT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	180	0.0056	31	c.50- others(46): Show c.50-1411_50-1410insAGTATATATACTATTATAATACTCTAGTAT A	DEFB106B	ENSG00000187082.2	transcript	ENST00000335479.2	protein_coding	1/1			chr8	TogoVar
DEFB116_chr20_31298212_31313585	31298455	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG03516.hp2 HG02451.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0007 a0001c0001t0000g0007	2	416	0.0048	31	c.47 others(42): Show c.4756_*4757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DEFB116	ENSG00000215545.1	transcript	ENST00000400549.1	protein_coding		4756		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31460620	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02809.hp1 HG02896.hp1 others(4): Show HG02258.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG03139.hp1 HG03225.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0116 others(4): Show a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0116 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0145 a0002c0003t0002g0020	7	362	0.0193	31	c.48 others(42): Show c.4885_*4886insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding		4850		chr20	TogoVar
DEFB125_chr20_82672_102094	100385	A A	AATTTCTT others(24): Show AATTTCTTATGATGTTTTGGAGCATTCTTAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	472	0.0021	31	c.39 others(42): Show c.3968_*3969insATTTCTTATGATGTTTTGGAGCATTCTTAAC	DEFB125	ENSG00000178591.7	transcript	ENST00000382410.3	protein_coding		3292		chr20	TogoVar
DENND1A_chr9_123374658_123935126	123690117	A A	AGGAGGGA others(24): Show AGGAGGGAGGGGGGAAGAAGGAAAGGAGGGAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02055.hp2 HG00597.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0092 a0001c0001t0002g0054 a0001c0001t0002g0092	2	162	0.0124	31	c.303 others(50): Show c.303-13359_303-13329dupCTCCCTCCTTTCCTTCTTCCCCCCTC CCTCC	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND4A_chr15_65654123_65797293	65720947	T T	TTATATAT others(24): Show TTATATATATATATATATATATATATATACTA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0281 a0001c0002t0026g0281	1	304	0.0033	31	c.158 others(50): Show c.1588+1900_1588+1901insTAGTATATATATATATATATATATAT ATATA	DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	12/32			chr15	TogoVar
DENND4A_chr15_65654123_65797293	65720982	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0113 a0001c0001t0005g0113	1	304	0.0033	31	c.158 others(50): Show c.1588+1865_1588+1866insTATATATATATATATATATATATATA TATAT	DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	12/32			chr15	TogoVar
DENND6B_chr22_50304030_50332012	50307773	G G	GGAGGGGG others(24): Show GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01123.hp2 HG01258.hp1 others(20): Show HG00323.hp1 HG01123.hp2 HG01258.hp1 HG01517.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02155.hp2 HG02300.hp1 HG03927.hp1 NA18970.hp2 NA18971.hp2 NA18990.hp2 NA18993.hp1 NA19003.hp1 NA19004.hp2 NA19012.hp1 NA19060.hp1 NA19088.hp1 NA20805.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0015 a0003c0005 others(1): Show a0002c0002 a0002c0015 a0003c0005 a0003c0017	a0002c0002t0001 a0002c0015t0001 a0003c0005t0005 others(2): Show a0002c0002t0001 a0002c0015t0001 a0003c0005t0005 a0003c0005t0046 a0003c0017t0005	a0002c0002t0001g0238 a0002c0002t0001g0242 a0002c0002t0001g0247 others(20): Show a0002c0002t0001g0238 a0002c0002t0001g0242 a0002c0002t0001g0247 a0002c0002t0001g0251 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0312 a0002c0015t0001g0089 a0003c0005t0005g0198 a0003c0005t0005g0199 a0003c0005t0005g0201 a0003c0005t0005g0203 a0003c0005t0005g0205 a0003c0005t0005g0206 a0003c0005t0005g0207 a0003c0005t0005g0208 a0003c0005t0005g0209 a0003c0005t0005g0210 a0003c0005t0005g0211 a0003c0005t0005g0213 a0003c0005t0046g0202 a0003c0017t0005g0003	23	326	0.0706	31	c.43 others(42): Show c.4365_*4366insTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1256		chr22	TogoVar
DENR_chr12_122747824_122776064	122750627	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0028	31	c.-23 others(42): Show c.-2333_-2332insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	DENR	ENSG00000139726.11	transcript	ENST00000280557.11	protein_coding		2196		chr12	TogoVar
DEPTOR_chr8_119868722_120055918	119980453	T T	TTTTTTCT others(24): Show TTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0005 a0002c0001t0001g0005	1	198	0.0051	31	c.604 others(50): Show c.604+15047_604+15048insTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTT	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120002791	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02723.hp2 HG01243.hp1 HG02723.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0006 a0002c0001t0001 a0001c0003t0006 a0002c0001t0001	a0001c0003t0006g0142 a0002c0001t0001g0005 a0001c0003t0006g0142 a0002c0001t0001g0005	2	198	0.0101	31	c.791 others(46): Show c.791-185_791-184insAAATATATATATATATATATATATATATAT A	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DESI1_chr22_41593028_41626043	41594335	G G	GGGTGGGG others(24): Show GGGTGGGGGGGCGGTGGGGGGGTGGGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	308	0.0033	31	c.67 others(42): Show c.6761_*6762insGCCTCCCCCACCCCCCCACCGCCCCCCCACC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3692		chr22	TogoVar
DGAT1_chr8_144309584_144331852	144313634	G G	GCCCCGCC others(24): Show GCCCCGCCGCCCCGCCCCGCCTCCCCGCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	370	0.0027	31	c.29 others(42): Show c.2919_*2920insAGGCGCGGGGAGGCGGGGCGGGGCGGCGGGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		949		chr8	TogoVar
DGAT1_chr8_144309584_144331852	144313707	G G	GCCTCCCC others(24): Show GCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	370	0.0027	31	c.28 others(42): Show c.2846_*2847insGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		876		chr8	TogoVar
DGAT1_chr8_144309584_144331852	144313736	G G	GCCTCCCC others(24): Show GCCTCCCCGCGCCGCCTCCCCCGCCGCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	31	c.28 others(42): Show c.2817_*2818insGGGAGGCGGCGGGGGAGGCGGCGCGGGGAGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		847		chr8	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGCG others(24): Show TGTGTGCGCGCGCAGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	392	0.0026	31	c.-28 others(42): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCTGCGCGCGCACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(24): Show TGTGTGTGTGCGCGCGCGCAGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	392	0.0026	31	c.-28 others(42): Show c.-2845_-2844insGCATGCGCGCGCTGCGCGCGCGCACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(24): Show TGTGTGTGTGCGCGCTGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	392	0.0026	31	c.-28 others(42): Show c.-2845_-2844insGCGTGCGCGCGCGCGCAGCGCGCACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(24): Show TGTGTGTGTGTGCGCGCGCAGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	31	c.-28 others(42): Show c.-2845_-2844insGCATGCGCGCGCTGCGCGCGCACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(24): Show TGTGTGTGTGTGTGCGCGCAGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	392	0.0026	31	c.-28 others(42): Show c.-2845_-2844insGCATGCGCGCGCTGCGCGCACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(24): Show TGTGTGTGTGTGTGCGCGCGCTGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	392	0.0026	31	c.-28 others(42): Show c.-2845_-2844insGCATGCGCGCAGCGCGCGCACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20113440	T T	TGGGCGTT others(24): Show TGGGCGTTCACCCGGGCGTCCTCCACAGCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	419	0.0024	31	c.33 others(42): Show c.3332_*3333insGGGCGTTCACCCGGGCGTCCTCCACAGCCTC	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		1569		chr22	TogoVar
DGKB_chr7_14140049_14907751	14471188	C C	CATATATG others(24): Show CATATATGTATGGAATATATGTATATATACAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0028 a0001c0003t0002g0028	1	148	0.0068	31	c.183 others(50): Show c.1835+6942_1835+6972dupATGTATATATACATATATTCCATACA TATAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14758928	G G	GATAGATG others(24): Show GATAGATGATAGATAGATAGATAGATAGATAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0081 a0001c0002t0003g0081	1	148	0.0068	31	c.71- others(46): Show c.71-1198_71-1197insGTATCTATCTATCTATCTATCTATCATCTA T	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	2/25			chr7	TogoVar

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