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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DCC_chr18_52335197_53540899	53086069	TCTCCTCC others(14): Show TCTCCTCCTCCTCCTCCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp2 HG02280.hp1 others(1): Show HG00597.hp2 HG00733.hp2 HG02280.hp1 NA19065.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0015 a0002c0001t0002 a0002c0001t0015	a0002c0001t0002g0027 a0002c0001t0002g0063 a0002c0001t0002g0081 others(1): Show a0002c0001t0002g0027 a0002c0001t0002g0063 a0002c0001t0002g0081 a0002c0001t0015g0069	4	114	0.0351	-21	c.126 others(42): Show c.1261+19967_1261+19987delCTCCTCCTCCTCCTCCTCCTC		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53190458	CTGTGTGT others(14): Show CTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01346.hp2 HG01993.hp2 HG01261.hp2 HG01346.hp2 HG01993.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0023 a0001c0008t0025 a0001c0008t0026 a0001c0008t0023 a0001c0008t0025 a0001c0008t0026	a0001c0008t0023g0098 a0001c0008t0025g0086 a0001c0008t0026g0095 a0001c0008t0023g0098 a0001c0008t0025g0086 a0001c0008t0026g0095	3	114	0.0263	-21	c.157 others(42): Show c.1573+11343_1573+11363delTGTGTGTGTGTGTGTGTGTGT		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	9/28						chr18	TogoVar
DCC_chr18_52335197_53540899	53222370	CTTTTTCT others(14): Show CTTTTTCTTTTTTCTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02257.hp2 HG02280.hp2 others(1): Show HG00642.hp1 HG02257.hp2 HG02280.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0006 a0001c0002t0009 a0001c0005t0011 a0001c0002t0006 a0001c0002t0009 a0001c0005t0011	a0001c0002t0006g0003 a0001c0002t0006g0009 a0001c0002t0009g0049 others(1): Show a0001c0002t0006g0003 a0001c0002t0006g0009 a0001c0002t0009g0049 a0001c0005t0011g0032	4	114	0.0351	-21	c.191 others(40): Show c.1911+6779_1911+6799delCTTTTTTCTTTTTTTTTTTTT		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53351445	ATATATAT others(14): Show ATATATATATATACACAGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01993.hp2 HG01346.hp2 HG01993.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0023 a0001c0008t0026 a0001c0008t0023 a0001c0008t0026	a0001c0008t0023g0098 a0001c0008t0026g0095 a0001c0008t0023g0098 a0001c0008t0026g0095	2	114	0.0175	-21	c.235 others(42): Show c.2359+11551_2359+11571delCACAGTGTGTATATATATATA		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	15/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC2C_chr2_3698575_3853008	3775110	CTGAGCTA others(14): Show CTGAGCTAGGCAGCTGTGGCTG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01516.hp1 HG01517.hp1 others(22): Show HG01106.hp1 HG01516.hp1 HG01517.hp1 HG02027.hp1 HG02055.hp1 HG02109.hp1 HG02135.hp2 HG02559.hp1 HG02622.hp1 HG02698.hp1 HG02717.hp1 HG02818.hp2 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03471.hp1 HG03540.hp2 HG04115.hp2 NA18960.hp1 NA18994.hp1 NA19000.hp2 NA19005.hp2 NA19070.hp1 NA19083.hp2 NA19240.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0006c0012	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(11): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0006t0001 a0001c0006t0010 a0002c0003t0005 a0002c0004t0002 a0006c0012t0001	a0001c0001t0002g0115 a0001c0001t0004g0294 a0001c0001t0006g0293 others(22): Show a0001c0001t0002g0115 a0001c0001t0004g0294 a0001c0001t0006g0293 a0001c0002t0001g0134 a0001c0002t0001g0140 a0001c0002t0002g0021 a0001c0002t0002g0042 a0001c0002t0002g0303 a0001c0002t0002g0305 a0001c0002t0004g0256 a0001c0002t0004g0281 a0001c0002t0004g0285 a0001c0002t0004g0287 a0001c0002t0004g0291 a0001c0002t0004g0320 a0001c0002t0005g0013 a0001c0002t0006g0260 a0001c0002t0010g0222 a0001c0006t0001g0030 a0001c0006t0001g0031 a0001c0006t0010g0159 a0001c0006t0010g0228 a0002c0003t0005g0010 a0002c0004t0002g0178 a0006c0012t0001g0029	25	324	0.0772	-21	c.955 others(38): Show c.955-3661_955-3641delAGCTAGGCAGCTGTGGCTGTG		DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3775512	GGCTAGGC others(14): Show GGCTAGGCAGCTGTGGCTCTGA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02055.hp1 HG02135.hp2 others(7): Show HG02027.hp1 HG02055.hp1 HG02135.hp2 HG02717.hp1 HG03098.hp1 HG03098.hp2 HG03540.hp2 HG04115.hp2 NA19070.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 others(5): Show a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010 a0002c0004t0002	a0001c0001t0004g0294 a0001c0001t0006g0293 a0001c0002t0001g0134 others(7): Show a0001c0001t0004g0294 a0001c0001t0006g0293 a0001c0002t0001g0134 a0001c0002t0002g0021 a0001c0002t0002g0042 a0001c0002t0002g0303 a0001c0002t0004g0320 a0001c0002t0005g0013 a0001c0002t0010g0222 a0002c0004t0002g0178	10	324	0.0309	-21	c.955 others(38): Show c.955-3286_955-3266delCTGAGCTAGGCAGCTGTGGCT		DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3775584	GCTGTGGC others(14): Show GCTGTGGCTGTGGGCTAGGCAC	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0172 a0001c0005t0008g0172	1	324	0.0031	-21	c.955 others(38): Show c.955-3211_955-3191delCCTGTGGCTGTGGGCTAGGCA		DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3775946	GGCTCTGA others(14): Show GGCTCTGAGCTAGGCAGCTGTC	G G	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18992.hp2 NA19074.hp1 NA18989.hp1 NA18992.hp2 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0005 a0001c0002t0002 a0002c0004t0001 a0001c0001t0005 a0001c0002t0002 a0002c0004t0001	a0001c0001t0005g0120 a0001c0002t0002g0146 a0002c0004t0001g0194 a0001c0001t0005g0120 a0001c0002t0002g0146 a0002c0004t0001g0194	3	324	0.0093	-21	c.955 others(38): Show c.955-2866_955-2846delCTGAGCTAGGCAGCTGTCGCT		DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
DCP1B_chr12_1941053_2009457	1996635	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02965.hp1 HG03831.hp2 others(2): Show HG02257.hp2 HG02965.hp1 HG03831.hp2 HG04228.hp2 NA18522.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0009 a0001c0001 a0002c0002 a0008c0009	a0001c0001t0001 a0002c0002t0001 a0008c0009t0001 a0001c0001t0001 a0002c0002t0001 a0008c0009t0001	a0001c0001t0001g0226 a0002c0002t0001g0024 a0002c0002t0001g0157 others(1): Show a0001c0001t0001g0226 a0002c0002t0001g0024 a0002c0002t0001g0157 a0008c0009t0001g0278	5	378	0.0132	-21	c.191 others(38): Show c.191+1279_191+1299delGTTTTTTTTTTTTTTTTTTTT		DCP1B	ENSG00000151065.14	transcript	ENST00000280665.11	protein_coding	2/8						chr12	TogoVar
DCPS_chr11_126299060_126355005	126330701	ATATATAT others(14): Show ATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0142 a0001c0002t0014g0142	1	342	0.0029	-21	c.377 others(36): Show c.377-702_377-682delATATATATATATATATATTTT		DCPS	ENSG00000110063.10	transcript	ENST00000263579.5	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr11	TogoVar
DCPS_chr11_126299060_126355005	126330703	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0078 a0001c0009t0078	a0001c0009t0078g0102 a0001c0009t0078g0102	1	342	0.0029	-21	c.377 others(36): Show c.377-700_377-680delATATATATATATATATTTTTT		DCPS	ENSG00000110063.10	transcript	ENST00000263579.5	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr11	TogoVar
DCPS_chr11_126299060_126355005	126330711	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0227 a0001c0001t0041g0227	1	342	0.0029	-21	c.377 others(36): Show c.377-692_377-672delATATATATTTTTTTTTTTTTT		DCPS	ENSG00000110063.10	transcript	ENST00000263579.5	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr11	TogoVar
DCTN5_chr16_23636466_23682472	23645106	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp1 HG00140.hp1 HG00733.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0067 a0001c0003t0005g0248 a0001c0003t0005g0067 a0001c0003t0005g0248	2	314	0.0064	-21	c.117 others(38): Show c.117+2084_117+2104delATATATATATATATATATATA		DCTN5	ENSG00000166847.10	transcript	ENST00000300087.7	protein_coding	2/5						chr16	TogoVar
DCT_chr13_94431811_94484682	94472550	ATATATAT others(14): Show ATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0232 a0001c0004t0006g0232	1	336	0.0030	-21	c.296 others(38): Show c.296-3526_296-3506delAAATATATATATATATATATA		DCT	ENSG00000080166.16	transcript	ENST00000377028.10	protein_coding	1/7						chr13	TogoVar
DCT_chr13_94431811_94484682	94472552	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	336	0.0030	-21	c.296 others(38): Show c.296-3528_296-3508delAAAAATATATATATATATATA		DCT	ENSG00000080166.16	transcript	ENST00000377028.10	protein_coding	1/7						chr13	TogoVar
DDR1_chr6_30879519_30905156	30892119	CAGCTTCT others(14): Show CAGCTTCTCCAGTGGCTATGTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19078.hp2 NA19078.hp2	a0005 a0005	a0005c0020 a0005c0020	a0005c0020t0001 a0005c0020t0001	a0005c0020t0001g0052 a0005c0020t0001g0052	1	431	0.0023	-21	c.784 others(28): Show c.784_804delAGCTTCTCCAGTGGCTATGTG	p.Ser others(13): Show p.Ser262_Val268del	DDR1	ENSG00000204580.14	transcript	ENST00000376568.8	protein_coding	7/18	1018/3836	784/2742	262/913			chr6	TogoVar
DDTL_chr22_23961888_23977556	23970988	CCAACCCC others(14): Show CCAACCCCCAAAGGGACACAGG	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02135.hp1 HG03688.hp1 others(6): Show HG02027.hp2 HG02135.hp1 HG03688.hp1 NA18969.hp1 NA18979.hp1 NA19005.hp2 NA19077.hp1 NA19087.hp2 NA19091.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0011 a0002c0003t0006g0040 a0002c0003t0006g0011 a0002c0003t0006g0040	9	324	0.0278	-21	c.285 others(36): Show c.285-290_285-270delCAAAGGGACACAGGCAACCCC		DDTL	ENSG00000099974.8	transcript	ENST00000215770.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr22	TogoVar
DDT_chr22_23966370_23979441	23970988	CCAACCCC others(14): Show CCAACCCCCAAAGGGACACAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02135.hp1 HG03688.hp1 others(7): Show HG02027.hp1 HG02135.hp1 HG03688.hp1 NA18968.hp1 NA18969.hp1 NA18979.hp1 NA19005.hp2 NA19077.hp1 NA19087.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0007 a0001c0001t0001g0030	10	316	0.0317	-21	c.54 others(30): Show c.542_*562delCCTGTGTCCCTTTGGGGGTTG		DDT	ENSG00000099977.16	transcript	ENST00000398344.9	protein_coding					381		chr22	TogoVar
DDX10_chr11_108660069_108945927	108911553	CTTCTTTT others(14): Show CTTCTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	320	0.0031	-21	c.230 others(40): Show c.2305-6317_2305-6297delCTTTTTTTTTTTTTTTTTTTT		DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr11	TogoVar
DDX19A_chr16_70341903_70378383	70357366	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	392	0.0026	-21	c.293 others(38): Show c.293+1135_293+1155delTTTTTTTTTTTTTTTTTTTTT		DDX19A	ENSG00000168872.17	transcript	ENST00000302243.12	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339393	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	336	0.0030	-21	c.58 others(32): Show c.5812_*5832delTATATATATATATATATATAT		DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding					4089		chr16	TogoVar
DDX39A_chr19_14403798_14424341	14414325	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01978.hp2 NA20805.hp1 HG01515.hp1 HG01978.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0041 a0001c0001t0001g0051	3	392	0.0077	-21	c.-4- others(36): Show c.-4-1122_-4-1102delTAATAATAATAATAATAATAA		DDX39A	ENSG00000123136.15	transcript	ENST00000242776.9	protein_coding	1/10						chr19	TogoVar
DDX3X_chrX_41329162_41355274	41331925	AGAGCGAA others(14): Show AGAGCGAATAATTGAATCACTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	301	0.0033	-21	c.-23 others(32): Show c.-2327_-2307delGAGCGAATAATTGAATCACTG		DDX3X	ENSG00000215301.11	transcript	ENST00000644876.2	protein_coding					2236		chrX	TogoVar
DDX42_chr17_63769170_63824317	63789550	TTTGTTTT others(14): Show TTTGTTTTTGTTTTTGTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	332	0.0030	-21	c.221 others(38): Show c.221+2283_221+2303delGTTTTTGTTTTTGTTTTTGTT		DDX42	ENSG00000198231.14	transcript	ENST00000389924.7	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr17	TogoVar
DDX52_chr17_37604739_37648446	37625006	CTGTTTTT others(14): Show CTGTTTTTTTTGTTTTTCAAGA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00735.hp2 NA18612.hp1 others(5): Show HG00438.hp2 HG00735.hp2 NA18612.hp1 NA18982.hp2 NA18988.hp2 NA19005.hp1 NA19080.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0227 a0002c0002t0001g0008 a0002c0002t0001g0227	8	411	0.0195	-21	c.113 others(38): Show c.1137-593_1137-573delTCTTGAAAAACAAAAAAAACA		DDX52	ENSG00000278053.5	transcript	ENST00000617633.5	protein_coding	8/14						chr17	TogoVar
DEF6_chr6_35292818_35326771	35297079	AAGGCTCA others(14): Show AAGGCTCACCCCCATGTGTTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	326	0.0031	-21	c.-77 others(30): Show c.-777_-757delAGGCTCACCCCCATGTGTTTC		DEF6	ENSG00000023892.12	transcript	ENST00000316637.7	protein_coding					738		chr6	TogoVar
DEFB108B_chr11_71828200_71842710	71831520	CCGTCCGG others(14): Show CCGTCCGGGAGGTGGGGGGCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG03927.hp2 NA19000.hp2 HG02738.hp2 HG03927.hp2 NA19000.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0002 a0002c0003 a0003c0002	a0002c0003t0001 a0003c0002t0001 a0002c0003t0001 a0003c0002t0001	a0002c0003t0001g0002 a0003c0002t0001g0002 a0002c0003t0001g0002 a0003c0002t0001g0002	3	440	0.0068	-21	c.-16 others(32): Show c.-1679_-1659delCGTCCGGGAGGTGGGGGGCAG		DEFB108B	ENSG00000184276.3	transcript	ENST00000328698.2	protein_coding					1679		chr11	TogoVar
DEFB123_chr20_31435632_31455257	31450560	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	372	0.0027	-21	c.38 others(30): Show c.387_*407delTATATATATATTTTTTTTTTT		DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding					304		chr20	TogoVar
DEFB123_chr20_31435632_31455257	31450564	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	372	0.0027	-21	c.39 others(30): Show c.391_*411delTATATATTTTTTTTTTTTTTT		DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding					308		chr20	TogoVar
DEFB134_chr8_11988174_12005752	11990326	GAAATGGG others(14): Show GAAATGGGTTAAGGTCCAATAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	448	0.0022	-21	c.36 others(32): Show c.3633_*3653delTTATTGGACCTTAACCCATTT		DEFB134	ENSG00000205882.9	transcript	ENST00000382205.6	protein_coding					2847		chr8	TogoVar
DEFB1_chr8_6865592_6882936	6870379	AAAAACCA others(14): Show AAAAACCAAAAAAAAAAAAACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01256.hp1 HG02071.hp2 others(25): Show HG00621.hp1 HG01256.hp1 HG02071.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03490.hp1 HG03704.hp2 NA18943.hp1 NA18960.hp1 NA18980.hp2 NA18984.hp2 NA18987.hp2 NA19065.hp2 NA19075.hp1 NA19086.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0071 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0003g0037 a0001c0001t0003g0184 a0001c0001t0003g0187 a0001c0001t0004g0051 a0001c0001t0004g0157 a0001c0001t0005g0072 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0006g0020 a0001c0001t0006g0091 a0001c0001t0006g0114 a0001c0001t0006g0115 a0003c0003t0001g0015	28	478	0.0586	-21	c.28 others(30): Show c.281_*301delGGTTTTTTTTTTTTTGGTTTT		DEFB1	ENSG00000164825.4	transcript	ENST00000297439.4	protein_coding					212		chr8	TogoVar
DEGS2_chr14_100138957_100164645	100144685	GCAGCAGC others(14): Show GCAGCAGCCAGAGACAGAGGTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0085 a0001c0001t0037g0085	1	440	0.0023	-21	c.20 others(32): Show c.2055_*2075delAACCTCTGTCTCTGGCTGCTG		DEGS2	ENSG00000168350.8	transcript	ENST00000305631.7	protein_coding	3/3				2055		chr14	TogoVar
DEK_chr6_18218860_18269530	18259394	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	364	0.0028	-21	c.146 others(37): Show c.146-1010_146-990delTTTTTTTTTTTTTTTTTTTTT		DEK	ENSG00000124795.17	transcript	ENST00000652689.1	protein_coding	2/10						chr6	TogoVar
DENND10_chr10_119099113_119142984	119103084	CTGCCTCC others(14): Show CTGCCTCCAGGGCACATATCGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02257.hp1 others(15): Show HG01884.hp1 HG02145.hp2 HG02257.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0004t0009 a0001c0004t0010 a0001c0004t0025	a0001c0001t0001g0276 a0001c0001t0002g0260 a0001c0001t0008g0021 others(14): Show a0001c0001t0001g0276 a0001c0001t0002g0260 a0001c0001t0008g0021 a0001c0001t0008g0261 a0001c0001t0008g0262 a0001c0001t0008g0263 a0001c0001t0008g0264 a0001c0001t0010g0028 a0001c0001t0010g0030 a0001c0001t0010g0277 a0001c0001t0011g0324 a0001c0001t0011g0325 a0001c0001t0011g0326 a0001c0001t0011g0327 a0001c0004t0009g0279 a0001c0004t0010g0278 a0001c0004t0025g0025	18	374	0.0481	-21	c.-10 others(32): Show c.-1058_-1038delTGCCTCCAGGGCACATATCGT		DENND10	ENSG00000119979.18	transcript	ENST00000361432.3	protein_coding					1028		chr10	TogoVar
DENND1A_chr9_123374658_123935126	123474419	TTTTTAAG others(14): Show TTTTTAAGCAAAAAGTTTAAAA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02615.hp2 HG02717.hp2 others(3): Show HG01099.hp1 HG02615.hp2 HG02717.hp2 HG02818.hp1 HG03579.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(3): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0087 a0001c0002t0001g0103 a0001c0002t0001g0105	6	162	0.0370	-21	c.994 others(40): Show c.994-16543_994-16523delTTTTAAACTTTTTGCTTAAAA		DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23						chr9	TogoVar
DENND1A_chr9_123374658_123935126	123516884	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG00597.hp1 others(50): Show HG00140.hp2 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01099.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01884.hp1 HG01952.hp1 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02451.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG04228.hp1 HG06807.hp2 NA18945.hp1 NA18975.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0016 a0001c0017 a0001c0018 a0002c0007 a0002c0015 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0012 a0001c0002t0017 a0001c0002t0018 a0001c0002t0020 a0001c0005t0005 a0001c0009t0001 a0001c0016t0001 a0001c0017t0002 a0001c0018t0001 a0002c0007t0001 a0002c0015t0011 a0003c0010t0002	a0001c0001t0001g0004 a0001c0001t0001g0049 a0001c0001t0001g0055 others(50): Show a0001c0001t0001g0004 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0109 a0001c0001t0001g0126 a0001c0001t0001g0154 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0078 a0001c0001t0002g0155 a0001c0001t0006g0056 a0001c0002t0001g0002 a0001c0002t0001g0009 a0001c0002t0001g0027 a0001c0002t0001g0032 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0048 a0001c0002t0001g0104 a0001c0002t0001g0107 a0001c0002t0002g0012 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0035 a0001c0002t0002g0041 a0001c0002t0002g0066 a0001c0002t0002g0106 a0001c0002t0003g0022 a0001c0002t0003g0102 a0001c0002t0004g0015 a0001c0002t0004g0018 a0001c0002t0004g0042 a0001c0002t0004g0047 a0001c0002t0004g0088 a0001c0002t0006g0014 a0001c0002t0012g0016 a0001c0002t0017g0090 a0001c0002t0018g0028 a0001c0002t0020g0017 a0001c0005t0005g0130 a0001c0005t0005g0131 a0001c0009t0001g0008 a0001c0009t0001g0108 a0001c0016t0001g0006 a0001c0017t0002g0025 a0001c0018t0001g0007 a0002c0007t0001g0121 a0002c0015t0011g0161 a0003c0010t0002g0101	53	162	0.3272	-21	c.993 others(40): Show c.993+40665_993+40685delTTTTTTTTTTTTTTTTTTTTT		DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23						chr9	TogoVar
DENND1B_chr1_197499748_197780480	197692395	ACAAAGTT others(14): Show ACAAAGTTCTTCATAATCTGAC	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0014 a0001c0001t0035g0014	1	280	0.0036	-21	c.127 others(40): Show c.127-18247_127-18227delGTCAGATTATGAAGAACTTTG		DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22						chr1	TogoVar
DENND1B_chr1_197499748_197780480	197768152	TTCCTCCT others(14): Show TTCCTCCTCCTCCTCTTCGTCG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0037 a0007c0012t0037	a0007c0012t0037g0139 a0007c0012t0037g0139	1	280	0.0036	-21	c.82+ others(36): Show c.82+4695_82+4715delCGACGAAGAGGAGGAGGAGGA		DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	2/22						chr1	TogoVar
DENND2B_chr11_8688352_8815674	8799918	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(139): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18947.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18961.hp1 NA18968.hp2 NA18970.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA18989.hp2 NA18992.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19074.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0012 a0013 a0014	a0001c0001 a0001c0011 a0002c0003 others(10): Show a0001c0001 a0001c0011 a0002c0003 a0003c0002 a0004c0004 a0005c0006 a0006c0005 a0007c0008 a0009c0017 a0010c0013 a0012c0016 a0013c0015 a0014c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0011t0002 a0002c0003t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0002t0004 a0004c0004t0001 a0005c0006t0001 a0006c0005t0001 a0007c0008t0001 a0009c0017t0001 a0010c0013t0001 a0012c0016t0002 a0013c0015t0001 a0014c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(139): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0187 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0293 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0330 a0001c0001t0002g0021 a0001c0001t0002g0074 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0200 a0001c0001t0002g0223 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0235 a0001c0001t0002g0267 a0001c0001t0002g0270 a0001c0001t0002g0296 a0001c0001t0002g0341 a0001c0001t0002g0346 a0001c0001t0003g0080 a0001c0001t0003g0171 a0001c0001t0003g0240 a0001c0001t0003g0251 a0001c0001t0003g0255 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0005g0022 a0001c0011t0002g0250 a0002c0003t0001g0150 a0003c0002t0001g0256 a0003c0002t0001g0282 a0003c0002t0001g0283 a0003c0002t0001g0287 a0003c0002t0001g0303 a0003c0002t0001g0305 a0003c0002t0001g0306 a0003c0002t0001g0308 a0003c0002t0001g0313 a0003c0002t0001g0314 a0003c0002t0001g0315 a0003c0002t0001g0317 a0003c0002t0001g0318 a0003c0002t0001g0320 a0003c0002t0001g0324 a0003c0002t0001g0325 a0003c0002t0001g0326 a0003c0002t0001g0327 a0003c0002t0002g0030 a0003c0002t0002g0058 a0003c0002t0002g0078 a0003c0002t0002g0284 a0003c0002t0002g0286 a0003c0002t0002g0289 a0003c0002t0002g0290 a0003c0002t0002g0291 a0003c0002t0002g0292 a0003c0002t0002g0298 a0003c0002t0002g0300 a0003c0002t0002g0301 a0003c0002t0002g0309 a0003c0002t0002g0310 a0003c0002t0002g0311 a0003c0002t0002g0312 a0003c0002t0002g0316 a0003c0002t0002g0321 a0003c0002t0002g0322 a0003c0002t0002g0328 a0003c0002t0002g0329 a0003c0002t0002g0331 a0003c0002t0002g0332 a0003c0002t0002g0336 a0003c0002t0002g0340 a0003c0002t0003g0279 a0003c0002t0003g0338 a0003c0002t0004g0337 a0004c0004t0001g0307 a0004c0004t0001g0319 a0004c0004t0001g0323 a0004c0004t0001g0333 a0004c0004t0001g0334 a0004c0004t0001g0335 a0004c0004t0001g0339 a0005c0006t0001g0288 a0006c0005t0001g0278 a0007c0008t0001g0294 a0007c0008t0001g0295 a0007c0008t0001g0297 a0009c0017t0001g0120 a0010c0013t0001g0285 a0012c0016t0002g0304 a0013c0015t0001g0243 a0014c0012t0001g0236	142	352	0.4034	-21	c.-26 others(40): Show c.-26+10578_-26+10598delTAATAATAATAATAATAATAA		DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	1/19						chr11	TogoVar
DENND2B_chr11_8688352_8815674	8812998	GGTCTTGA others(14): Show GGTCTTGAACTCCTGAGCTCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00673.hp2 HG02040.hp2 others(5): Show HG00323.hp1 HG00673.hp2 HG02040.hp2 HG02071.hp2 HG02132.hp2 HG03942.hp1 HG04228.hp2 NA18955.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0003 a0003c0002t0003 a0001c0001t0001 a0001c0001t0003 a0003c0002t0003	a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0238 others(5): Show a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0003g0240 a0003c0002t0003g0279	8	352	0.0227	-21	c.-25 others(32): Show c.-2528_-2508delTTGAGCTCAGGAGTTCAAGAC		DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding					2325		chr11	TogoVar
DENND3_chr8_141123589_141200804	141145828	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02896.hp2 HG02897.hp2 others(1): Show HG02602.hp1 HG02896.hp2 HG02897.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0015 a0002c0033 a0002c0002 a0002c0015 a0002c0033	a0002c0002t0003 a0002c0015t0002 a0002c0033t0009 a0002c0002t0003 a0002c0015t0002 a0002c0033t0009	a0002c0002t0003g0040 a0002c0015t0002g0278 a0002c0033t0009g0281 others(1): Show a0002c0002t0003g0040 a0002c0015t0002g0278 a0002c0033t0009g0281 a0002c0033t0009g0282	4	390	0.0103	-21	c.735 others(38): Show c.735+1570_735+1590delATATATATATATATATATATA		DENND3	ENSG00000105339.11	transcript	ENST00000519811.6	protein_coding	5/22						chr8	TogoVar
DENND3_chr8_141123589_141200804	141145830	TATATATA others(14): Show TATATATATATATATATATATG	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02572.hp1 HG01346.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0033 a0002c0002 a0002c0033	a0002c0002t0002 a0002c0033t0009 a0002c0002t0002 a0002c0033t0009	a0002c0002t0002g0068 a0002c0033t0009g0280 a0002c0002t0002g0068 a0002c0033t0009g0280	2	390	0.0051	-21	c.735 others(38): Show c.735+1572_735+1592delATATATATATATATATATATG		DENND3	ENSG00000105339.11	transcript	ENST00000519811.6	protein_coding	5/22						chr8	TogoVar
DENND4C_chr9_19225693_19379281	19328654	TCTGTCTA others(14): Show TCTGTCTATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01891.hp2 HG02055.hp2 others(12): Show HG01074.hp2 HG01891.hp2 HG02055.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02965.hp1 HG03098.hp2 HG03139.hp2 HG03516.hp2 HG03579.hp2 HG06807.hp2 NA21309.hp1	a0002 a0024 a0002 a0024	a0002c0003 a0024c0029 a0002c0003 a0024c0029	a0002c0003t0006 a0002c0003t0011 a0002c0003t0031 others(2): Show a0002c0003t0006 a0002c0003t0011 a0002c0003t0031 a0002c0003t0032 a0024c0029t0010	a0002c0003t0006g0001 a0002c0003t0006g0002 a0002c0003t0006g0003 others(12): Show a0002c0003t0006g0001 a0002c0003t0006g0002 a0002c0003t0006g0003 a0002c0003t0006g0015 a0002c0003t0006g0016 a0002c0003t0006g0017 a0002c0003t0006g0018 a0002c0003t0006g0019 a0002c0003t0006g0021 a0002c0003t0006g0022 a0002c0003t0006g0023 a0002c0003t0011g0291 a0002c0003t0031g0014 a0002c0003t0032g0020 a0024c0029t0010g0270	15	292	0.0514	-21	c.225 others(38): Show c.2253+493_2253+513delCTGTCTATCTATCTATCTATC		DENND4C	ENSG00000137145.21	transcript	ENST00000434457.7	protein_coding	16/32						chr9	TogoVar
DENND5A_chr11_9133825_9270350	9164193	AATTTTTT others(14): Show AATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0283 a0001c0001t0016g0283	1	284	0.0035	-21	c.228 others(40): Show c.2283+1622_2283+1642delAAAAAAAAAAAAAAAAAAAAT		DENND5A	ENSG00000184014.9	transcript	ENST00000328194.8	protein_coding	11/22						chr11	TogoVar
DENND5A_chr11_9133825_9270350	9164194	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02922.hp1 HG03098.hp2 others(4): Show HG00741.hp1 HG02922.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0004t0003g0037 others(4): Show a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0004t0003g0037 a0001c0004t0003g0082 a0001c0004t0003g0147 a0001c0004t0003g0148 a0001c0004t0003g0201	7	284	0.0247	-21	c.228 others(40): Show c.2283+1621_2283+1641delAAAAAAAAAAAAAAAAAAAAA		DENND5A	ENSG00000184014.9	transcript	ENST00000328194.8	protein_coding	11/22						chr11	TogoVar
DENND5B_chr12_31377226_31596136	31587526	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0139 a0002c0002t0001g0139	1	308	0.0033	-21	c.127 others(38): Show c.127+3159_127+3179delAAAAAAAAAAAAAAAAAAAAA		DENND5B	ENSG00000170456.16	transcript	ENST00000389082.10	protein_coding	1/20						chr12	TogoVar
DERA_chr12_15906332_16042381	16024661	AGCTGTAA others(14): Show AGCTGTAATCCACTCTTATTAC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03516.hp1 HG02559.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0002 a0001c0001t0003g0003	2	258	0.0078	-21	c.638 others(38): Show c.638-7859_638-7839delGCTGTAATCCACTCTTATTAC		DERA	ENSG00000023697.13	transcript	ENST00000428559.7	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
DESI2_chr1_244648126_244714033	244699578	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01891.hp2 HG02258.hp2 others(10): Show HG01106.hp2 HG01891.hp2 HG02258.hp2 HG02572.hp2 HG02630.hp2 HG02738.hp2 HG02922.hp2 HG03453.hp1 HG03516.hp2 HG03927.hp1 HG03942.hp2 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0031 a0001c0001t0001g0323 a0001c0001t0001g0324 others(10): Show a0001c0001t0001g0031 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0013g0084	13	360	0.0361	-21	c.352 others(38): Show c.352-5960_352-5940delAAAAAAAAAAAAAAAAAAAAA		DESI2	ENSG00000121644.19	transcript	ENST00000302550.16	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
DGAT1_chr8_144309584_144331852	144313644	CCCGCCCC others(14): Show CCCGCCCCGCCTCCCCGCCGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0030 a0001c0001t0027g0030	1	370	0.0027	-21	c.28 others(32): Show c.2889_*2909delCGCGGCGGGGAGGCGGGGCGG		DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding					939		chr8	TogoVar
DGCR2_chr22_19031286_19127412	19083672	TCCCCTCT others(14): Show TCCCCTCTCCCTCTCCCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG00642.hp2 others(21): Show HG00423.hp2 HG00609.hp2 HG00642.hp2 HG01081.hp1 HG01106.hp2 HG01256.hp1 HG01358.hp2 HG01361.hp1 HG01884.hp2 HG01928.hp2 HG01993.hp1 HG02155.hp1 HG03209.hp2 HG03516.hp2 HG03710.hp1 HG03834.hp1 NA18944.hp2 NA18951.hp2 NA18957.hp2 NA18961.hp1 NA18977.hp1 NA19068.hp1 NA19079.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0034 a0002c0002t0036 others(3): Show a0002c0002t0003 a0002c0002t0034 a0002c0002t0036 a0002c0002t0037 a0002c0002t0038 a0002c0002t0040	a0002c0002t0003g0002 a0002c0002t0003g0045 a0002c0002t0003g0046 others(20): Show a0002c0002t0003g0002 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0048 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0062 a0002c0002t0003g0065 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0034g0047 a0002c0002t0036g0056 a0002c0002t0037g0064 a0002c0002t0038g0061 a0002c0002t0040g0049	24	344	0.0698	-21	c.202 others(38): Show c.202+5675_202+5695delGGAGAGGGAGAGGGAGAGGGG		DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	2/9						chr22	TogoVar

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