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
DCTN5_chr16_23636466_23682472	23645137	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0185 a0001c0002t0020g0185	1	314	0.0032	19	c.117 others(36): Show c.117+2115_117+2116insATATATATATTTTTTTTTT	DCTN5	ENSG00000166847.10	transcript	ENST00000300087.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
DCTN5_chr16_23636466_23682472	23645137	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18962.hp1 HG00609.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0202 a0001c0002t0002g0203	2	314	0.0064	19	c.117 others(36): Show c.117+2115_117+2116insATATATATTTTTTTTTTTT	DCTN5	ENSG00000166847.10	transcript	ENST00000300087.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
DCTN5_chr16_23636466_23682472	23647138	T T	TTTTTTTT others(12): Show TTTTTTTTTTGTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00733.hp1 others(24): Show HG00140.hp1 HG00423.hp1 HG00733.hp1 HG00741.hp2 HG01070.hp2 HG01099.hp1 HG01433.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02148.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp1 HG02647.hp2 HG02683.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03471.hp1 HG03579.hp1 HG03654.hp1 HG03834.hp1 HG03942.hp1 NA18992.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 others(6): Show a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0001c0003t0021 a0001c0003t0022 a0001c0003t0035 a0001c0003t0036 a0001c0003t0037 a0001c0003t0040	a0001c0003t0005g0004 a0001c0003t0005g0029 a0001c0003t0005g0067 others(22): Show a0001c0003t0005g0004 a0001c0003t0005g0029 a0001c0003t0005g0067 a0001c0003t0005g0231 a0001c0003t0005g0248 a0001c0003t0005g0250 a0001c0003t0005g0253 a0001c0003t0007g0232 a0001c0003t0007g0242 a0001c0003t0007g0243 a0001c0003t0007g0244 a0001c0003t0007g0245 a0001c0003t0007g0246 a0001c0003t0008g0028 a0001c0003t0008g0233 a0001c0003t0008g0237 a0001c0003t0008g0251 a0001c0003t0008g0252 a0001c0003t0021g0258 a0001c0003t0022g0004 a0001c0003t0022g0247 a0001c0003t0035g0249 a0001c0003t0036g0004 a0001c0003t0037g0004 a0001c0003t0040g0259	27	314	0.0860	19	c.117 others(36): Show c.117+4124_117+4125insGTTTTTTTTGTTTTTTTTT	DCTN5	ENSG00000166847.10	transcript	ENST00000300087.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
DCUN1D5_chr11_103045686_103097160	103049735	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0058 a0001c0001t0008g0058	1	318	0.0031	19	c.12 others(32): Show c.12623_*12624insGAGAGAGAGAGAGAGAGAG	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		950		chr11	TogoVar
DCX_chrX_111288779_111417192	111316088	A A	AATAAATA others(12): Show AATAAATAATTTAATTAATT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0171 a0001c0001t0009g0171	1	183	0.0055	19	c.947 others(36): Show c.947-3353_947-3352insAATTAATTAAATTATTTAT	DCX	ENSG00000077279.21	transcript	ENST00000636035.2	protein_coding	5/6			chrX	TogoVar
DDI2_chr1_15612458_15674044	15671235	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02615.hp1 HG02572.hp2 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0029 a0001c0002t0020 a0001c0002t0029	a0001c0002t0020g0096 a0001c0002t0029g0108 a0001c0002t0020g0096 a0001c0002t0029g0108	2	272	0.0074	19	c.11 others(32): Show c.11445_*11446insTTTTTTTTTTTTTTTTTTT	DDI2	ENSG00000197312.13	transcript	ENST00000480945.6	protein_coding		2192		chr1	TogoVar
DDOST_chr1_20646777_20666369	20651801	T T	TTTTTTTT others(12): Show TTTTTTTTATTTATTTATTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0031 a0005c0012t0031	a0005c0012t0031g0081 a0005c0012t0031g0081	1	456	0.0022	19	c.57 others(28): Show c.577_*578insTAATAAATAAATAAAAAAA	DDOST	ENSG00000244038.11	transcript	ENST00000602624.7	protein_coding	11/11	577		chr1	TogoVar
DDR2_chr1_162627464_162792405	162658829	A A	AAATAAAT others(12): Show AAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG01069.hp1 others(22): Show HG00280.hp2 HG00639.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01346.hp2 HG01891.hp2 HG02004.hp1 HG02055.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02622.hp1 HG02922.hp2 HG03017.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03540.hp1 HG04204.hp2 NA18941.hp2 NA19030.hp2 NA19043.hp2 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 a0001c0001t0046 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0002t0017 a0001c0002t0022 a0001c0002t0031 a0001c0002t0038	a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0105 others(22): Show a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0272 a0001c0001t0004g0015 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0106 a0001c0001t0011g0103 a0001c0001t0013g0109 a0001c0001t0013g0110 a0001c0001t0013g0111 a0001c0001t0046g0112 a0001c0002t0001g0276 a0001c0002t0006g0017 a0001c0002t0006g0018 a0001c0002t0006g0019 a0001c0002t0006g0274 a0001c0002t0007g0095 a0001c0002t0007g0096 a0001c0002t0007g0292 a0001c0002t0017g0104 a0001c0002t0022g0125 a0001c0002t0031g0275 a0001c0002t0038g0099	25	302	0.0828	19	c.-28 others(36): Show c.-28+3457_-28+3458insTAAATAAATAAATAAATAA	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(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0284 a0001c0002t0001g0284	1	302	0.0033	19	c.-27 others(38): Show c.-27-29196_-27-29195insAAAAAAAAAAAAAAAAAAA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	2/17			chr1	TogoVar
DDRGK1_chr20_3185350_3209682	3207696	A A	AAAACAAC others(12): Show AAAACAACAACAACAACAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	438	0.0023	19	c.-30 others(30): Show c.-3070_-3069insGTTGTTGTTGTTGTTGTTT	DDRGK1	ENSG00000198171.13	transcript	ENST00000354488.8	protein_coding		3015		chr20	TogoVar
DDX10_chr11_108660069_108945927	108812979	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18957.hp1 NA18970.hp2 others(6): Show HG00621.hp1 NA18957.hp1 NA18970.hp2 NA18975.hp1 NA18981.hp2 NA19011.hp1 NA19054.hp2 NA19076.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0300 a0002c0002t0001g0099 a0002c0002t0001g0154 others(6): Show a0001c0001t0001g0300 a0002c0002t0001g0099 a0002c0002t0001g0154 a0002c0002t0001g0157 a0002c0002t0001g0165 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170	9	320	0.0281	19	c.196 others(40): Show c.1966-25453_1966-25452insAAAAAAAAAAAAAAAAAAA	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
DDX10_chr11_108660069_108945927	108837607	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02135.hp2 HG04204.hp1 others(2): Show HG01346.hp1 HG02135.hp2 HG04204.hp1 NA18977.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0076 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0076 a0001c0001t0001g0294 a0001c0001t0008g0033	5	320	0.0156	19	c.196 others(36): Show c.1966-822_1966-804dupTTTTTTTTTTTTTTTTTTT	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
DDX11_chr12_31068860_31109799	31093720	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	418	0.0024	19	c.136 others(36): Show c.1369+402_1369+420dupAAAAAAAAAAAAAAAAAAA	DDX11	ENSG00000013573.17	transcript	ENST00000542838.6	protein_coding	12/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
DDX11_chr12_31068860_31109799	31099080	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	418	0.0024	19	c.187 others(38): Show c.1875+1086_1875+1087insTTTTTTTTTTTTTTTTTTT	DDX11	ENSG00000013573.17	transcript	ENST00000542838.6	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
DDX11_chr12_31068860_31109799	31099084	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0079 a0004c0007t0003g0079	1	418	0.0024	19	c.187 others(38): Show c.1875+1090_1875+1108dupTTTTTTTTTTTTTTTTTTT	DDX11	ENSG00000013573.17	transcript	ENST00000542838.6	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
DDX11_chr12_31068860_31109799	31108550	A A	AAATAAAT others(12): Show AAATAAATAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02809.hp1 others(13): Show HG02109.hp2 HG02257.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03654.hp2 NA18906.hp2 NA18943.hp1 NA18985.hp2 NA19010.hp1 NA19043.hp1 NA19065.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0008 a0001c0027 others(1): Show a0001c0001 a0001c0008 a0001c0027 a0011c0014	a0001c0001t0001 a0001c0008t0001 a0001c0027t0001 others(1): Show a0001c0001t0001 a0001c0008t0001 a0001c0027t0001 a0011c0014t0001	a0001c0001t0001g0038 a0001c0001t0001g0133 a0001c0001t0001g0135 others(12): Show a0001c0001t0001g0038 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0008t0001g0029 a0001c0008t0001g0184 a0001c0008t0001g0187 a0001c0027t0001g0137 a0011c0014t0001g0131 a0011c0014t0001g0132	16	418	0.0383	19	c.47 others(30): Show c.4714_*4715insAATAAATAAATAAATAAAT	DDX11	ENSG00000013573.17	transcript	ENST00000542838.6	protein_coding		3752		chr12	TogoVar
DDX11_chr12_31068860_31109799	31109652	T T	TGTCCCTC others(12): Show TGTCCCTCGTGGATGACATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0113 a0001c0003t0002g0113	1	418	0.0024	19	c.58 others(30): Show c.5816_*5817insGTCCCTCGTGGATGACATA	DDX11	ENSG00000013573.17	transcript	ENST00000542838.6	protein_coding		4854		chr12	TogoVar
DDX17_chr22_38478438_38511311	38500817	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0075 a0001c0001t0025g0075	1	364	0.0028	19	c.438 others(34): Show c.438+294_438+312dupTTTTTTTTTTTTTTTTTTT	DDX17	ENSG00000100201.23	transcript	ENST00000403230.3	protein_coding	2/12			chr22	TogoVar
DDX19B_chr16_70294186_70340305	70339382	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	336	0.0030	19	c.58 others(30): Show c.5800_*5801insTATATATATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4078		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339386	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	336	0.0030	19	c.58 others(30): Show c.5804_*5805insTATATATATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4082		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339390	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	336	0.0030	19	c.58 others(30): Show c.5808_*5809insTATATATATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4086		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	336	0.0030	19	c.58 others(30): Show c.5810_*5811insAAAAAAAAAATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	336	0.0030	19	c.58 others(30): Show c.5810_*5811insAAAAAATATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02738.hp1 HG01192.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0106 a0001c0001t0001g0110	2	336	0.0060	19	c.58 others(30): Show c.5810_*5811insAAAATATATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAATATAT others(12): Show AAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	336	0.0030	19	c.58 others(30): Show c.5810_*5811insAATATATATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX21_chr10_68951170_68990068	68952889	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02895.hp2 HG02723.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	2	366	0.0055	19	c.-33 others(30): Show c.-3337_-3336insTTTTTTTTTTTTTTTTTTT	DDX21	ENSG00000165732.14	transcript	ENST00000354185.9	protein_coding		3280		chr10	TogoVar
DDX25_chr11_125899508_125933843	125904265	T T	TCGCCCCG others(12): Show TCGCCCCGCTCTCTGCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02451.hp2 others(5): Show HG01891.hp1 HG02258.hp1 HG02451.hp2 HG02622.hp1 HG02970.hp2 HG02976.hp2 HG03195.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0040 a0001c0001t0066 others(2): Show a0001c0001t0035 a0001c0001t0040 a0001c0001t0066 a0001c0001t0080 a0001c0001t0091	a0001c0001t0035g0031 a0001c0001t0035g0077 a0001c0001t0040g0025 others(3): Show a0001c0001t0035g0031 a0001c0001t0035g0077 a0001c0001t0040g0025 a0001c0001t0066g0124 a0001c0001t0080g0025 a0001c0001t0091g0257	8	448	0.0179	19	c.-25 others(28): Show c.-253_-252insCGCCCCGCTCTCTGCCCTC	DDX25	ENSG00000109832.14	transcript	ENST00000263576.11	protein_coding		242		chr11	TogoVar
DDX42_chr17_63769170_63824317	63771045	G G	GAAGGAAG others(12): Show GAAGGAAGAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	332	0.0030	19	c.-33 others(30): Show c.-3348_-3347insAAGGAAGAAGAAAGAAAGA	DDX42	ENSG00000198231.14	transcript	ENST00000389924.7	protein_coding		3124		chr17	TogoVar
DDX42_chr17_63769170_63824317	63820703	C C	CGCTTGAA others(12): Show CGCTTGAACCTGGAAGACGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(230): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18985.hp2 NA18988.hp1 NA18989.hp2 NA18992.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19065.hp2 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0003t0003 a0001c0004t0001 a0001c0005t0005 a0001c0006t0016 a0001c0007t0001 a0001c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(194): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0012 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0019 a0001c0001t0003g0037 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0072 a0001c0001t0003g0080 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0200 a0001c0001t0004g0018 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0092 a0001c0001t0005g0016 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0070 a0001c0001t0005g0194 a0001c0001t0006g0093 a0001c0001t0006g0163 a0001c0001t0006g0166 a0001c0001t0006g0167 a0001c0001t0006g0168 a0001c0001t0006g0169 a0001c0001t0007g0003 a0001c0001t0007g0010 a0001c0001t0007g0025 a0001c0001t0007g0142 a0001c0001t0008g0162 a0001c0001t0008g0187 a0001c0001t0008g0188 a0001c0001t0009g0103 a0001c0001t0009g0104 a0001c0001t0010g0081 a0001c0001t0010g0083 a0001c0001t0012g0143 a0001c0001t0013g0082 a0001c0001t0014g0038 a0001c0001t0015g0186 a0001c0001t0017g0147 a0001c0001t0018g0029 a0001c0001t0019g0152 a0001c0001t0020g0115 a0001c0001t0021g0153 a0001c0001t0022g0160 a0001c0003t0003g0017 a0001c0003t0003g0071 a0001c0004t0001g0043 a0001c0004t0001g0044 a0001c0005t0005g0069 a0001c0006t0016g0196 a0001c0007t0001g0114 a0001c0008t0001g0004	233	332	0.7018	19	c.23 others(30): Show c.2305_*2306insGCTTGAACCTGGAAGACGG	DDX42	ENSG00000198231.14	transcript	ENST00000389924.7	protein_coding		1387		chr17	TogoVar
DDX50_chr10_68896315_68951847	68910490	C C	CCTCCTGG others(12): Show CCTCCTGGGTTCAAGCGATT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0315 a0001c0002t0001g0315	1	334	0.0030	19	c.460 others(34): Show c.460+114_460+132dupGGGTTCAAGCGATTCTCCT	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68931447	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	334	0.0030	19	c.124 others(38): Show c.1240-2752_1240-2751insCACACACACACACACACAC	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14			chr10	TogoVar
DDX50_chr10_68896315_68951847	68936515	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0195 a0001c0003t0001g0195	1	334	0.0030	19	c.159 others(36): Show c.1596-420_1596-419insAAATATATATATATATATA	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX60L_chr4_168351735_168485492	168454758	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0121 a0004c0011t0001g0121	1	268	0.0037	19	c.837 others(36): Show c.837+1262_837+1280dupAAAAAAAAAAAAAAAAAAA	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	7/37			chr4	TogoVar
DDX60_chr4_168211294_168323752	168215492	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0001	a0002c0023t0001g0185 a0002c0023t0001g0185	1	270	0.0037	19	c.14 others(30): Show c.1440_*1441insTTTTTTTTTTTTTTTTTTT	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding		801		chr4	TogoVar
DEAF1_chr11_639233_700222	649655	G G	GGCTGCAG others(12): Show GGCTGCAGTGAGCCGAGATT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	345	0.0029	19	c.159 others(38): Show c.1593+4288_1593+4306dupAATCTCGGCTCACTGCAGC	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	11/11			chr11	TogoVar
DEF6_chr6_35292818_35326771	35313137	T T	TCTCCTTC others(12): Show TCTCCTTCCATACCCCTCTC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02976.hp2 HG03669.hp2 others(1): Show HG01074.hp2 HG02976.hp2 HG03669.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0030 a0001c0001t0001g0031	4	326	0.0123	19	c.807 others(34): Show c.807+369_807+387dupCTTCCATACCCCTCTCCTC	DEF6	ENSG00000023892.12	transcript	ENST00000316637.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
DEFB107A_chr8_7806720_7820716	7815247	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01167.hp2 others(6): Show HG00140.hp2 HG00639.hp2 HG01167.hp2 HG01169.hp1 HG01981.hp2 HG02273.hp1 HG02922.hp1 NA18946.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0080 a0001c0001t0002g0005 a0001c0001t0002g0081 others(1): Show a0001c0001t0001g0080 a0001c0001t0002g0005 a0001c0001t0002g0081 a0001c0001t0002g0082	9	170	0.0529	19	c.70+ others(32): Show c.70+293_70+311dupTTTTTTTTTTTTTTTTTTT	DEFB107A	ENSG00000186572.2	transcript	ENST00000335021.2	protein_coding	1/1			chr8	TogoVar
DEFB116_chr20_31298212_31313585	31298455	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00642.hp1 HG01175.hp1 others(4): Show HG00609.hp2 HG00642.hp1 HG01175.hp1 HG01928.hp2 HG02109.hp1 HG03710.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	7	416	0.0168	19	c.47 others(30): Show c.4756_*4757insTTTTTTTTTTTTTTTTTTT	DEFB116	ENSG00000215545.1	transcript	ENST00000400549.1	protein_coding		4756		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31460620	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG00733.hp2 others(23): Show HG00438.hp1 HG00621.hp2 HG00733.hp2 HG01069.hp1 HG01192.hp2 HG01358.hp1 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG02056.hp2 HG02155.hp1 HG02165.hp1 HG02300.hp1 HG03492.hp1 HG03710.hp1 HG04228.hp1 NA18956.hp1 NA18970.hp1 NA18975.hp1 NA19010.hp1 NA19062.hp2 NA19066.hp2 NA19087.hp1 NA19090.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0011 others(19): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0120 a0001c0001t0002g0127	26	362	0.0718	19	c.48 others(30): Show c.4885_*4886insTTTTTTTTTTTTTTTTTTT	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding		4850		chr20	TogoVar
DEFB134_chr8_11988174_12005752	12000780	A A	AAAACGAC others(12): Show AAAACGACATAGGCATTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	448	0.0022	19	c.-12 others(28): Show c.-121_-120insCACAATGCCTATGTCGTTT	DEFB134	ENSG00000205882.9	transcript	ENST00000382205.6	protein_coding		29		chr8	TogoVar
DEGS2_chr14_100138957_100164645	100141970	C C	CTAAGTGG others(12): Show CTAAGTGGCTTGCCTAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0082 a0001c0001t0032g0082	1	440	0.0023	19	c.47 others(30): Show c.4772_*4790dupTTCTTAGGCAAGCCACTTA	DEGS2	ENSG00000168350.8	transcript	ENST00000305631.7	protein_coding		1986		chr14	TogoVar
DENND1A_chr9_123374658_123935126	123378798	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG03704.hp1 HG02735.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0079 a0001c0002t0002g0012 a0001c0002t0001g0079 a0001c0002t0002g0012	2	162	0.0124	19	c.26 others(30): Show c.2633_*2634insAAAAAAAAAAAAAAAAAAA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding		859		chr9	TogoVar
DENND1A_chr9_123374658_123935126	123620232	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0110 a0001c0004t0001g0110	1	162	0.0062	19	c.719 others(38): Show c.719+10143_719+10144insCTTTTTTTTTTTTTTTTTT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	10/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123728479	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0133 a0001c0005t0005g0133	1	162	0.0062	19	c.302 others(38): Show c.302+29205_302+29223dupTTTTTTTTTTTTTTTTTTT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123845670	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0052 a0001c0004t0001g0052	1	162	0.0062	19	c.88+ others(36): Show c.88+33262_88+33280dupTTTTTTTTTTTTTTTTTTT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	2/23			chr9	TogoVar
DENND1B_chr1_197499748_197780480	197536159	A A	AGAGATAG others(12): Show AGAGATAGATGAGATGAGAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0083 a0001c0002t0002g0083	1	280	0.0036	19	c.151 others(38): Show c.1515+3804_1515+3805insATCTCATCTCATCTATCTC	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	20/22			chr1	TogoVar
DENND2A_chr7_140513420_140645813	140534081	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0077 a0002c0002t0002g0077	1	254	0.0039	19	c.232 others(38): Show c.2328-6605_2328-6587dupAAAAAAAAAAAAAAAAAAA	DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	14/19			chr7	TogoVar
DENND2A_chr7_140513420_140645813	140557531	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01975.hp1 HG02145.hp2 others(3): Show HG01109.hp1 HG01975.hp1 HG02145.hp2 HG02165.hp1 HG03704.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0004c0008t0001 a0001c0001t0001 a0001c0001t0002 a0004c0008t0001	a0001c0001t0001g0041 a0001c0001t0001g0186 a0001c0001t0001g0210 others(3): Show a0001c0001t0001g0041 a0001c0001t0001g0186 a0001c0001t0001g0210 a0001c0001t0001g0241 a0001c0001t0002g0073 a0004c0008t0001g0062	6	254	0.0236	19	c.195 others(36): Show c.1959+611_1959+612insATATATATATATATATATA	DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	11/19			chr7	TogoVar
DENND2A_chr7_140513420_140645813	140557531	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01496.hp2 HG03831.hp2 others(1): Show HG00280.hp1 HG01496.hp2 HG03831.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0063 others(1): Show a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0063 a0001c0001t0001g0180	4	254	0.0158	19	c.195 others(36): Show c.1959+611_1959+612insAAATATATATATATATATA	DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	11/19			chr7	TogoVar
DENND2A_chr7_140513420_140645813	140557531	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02040.hp1 HG02040.hp2 others(3): Show HG01496.hp1 HG02040.hp1 HG02040.hp2 HG02293.hp1 NA18995.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0046 a0001c0001t0001g0140 a0001c0001t0001g0147 others(3): Show a0001c0001t0001g0046 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0002g0156	6	254	0.0236	19	c.195 others(36): Show c.1959+611_1959+612insAAAAATATATATATATATA	DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	11/19			chr7	TogoVar

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