Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	67	0.0149	34	c.12 others(47): Show c.12593_*12594insTATATATAGAGAGAGAGAGAGAGAGAGAGAGA GA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		920		chr11	TogoVar
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0184 a0001c0001t0107g0184	1	67	0.0149	34	c.12 others(47): Show c.12593_*12594insTATATAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		920		chr11	TogoVar
DCXR_chr17_82030858_82042697	82034175	A A	ATTTTATA others(27): Show ATTTTATACAATAAACATTCTCCACCTACACCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	420	0.0024	34	c.17 others(45): Show c.1784_*1785insAGAGGTGTAGGTGGAGAATGTTTATTGTATAAAA	DCXR	ENSG00000169738.8	transcript	ENST00000306869.7	protein_coding		1682		chr17	TogoVar
DDA1_chr19_17304563_17328298	17315429	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0188 a0001c0001t0007g0188	1	150	0.0067	34	c.137 others(49): Show c.137-479_137-478insATATATATATATATATATATATATATATAT ATAT	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDR2_chr1_162627464_162792405	162729280	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01346.hp2 HG03239.hp1 HG01070.hp2 HG01346.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0099 a0001c0001t0013g0108 a0001c0001t0013g0110 a0001c0001t0004g0099 a0001c0001t0013g0108 a0001c0001t0013g0110	3	254	0.0118	34	c.82+ others(51): Show c.82+10156_82+10157insATATATATATATATATATATATATATAT ATATAT	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDTL_chr22_23961888_23977556	23968223	G G	GGGTAAAA others(27): Show GGGTAAAAGATATTCTTGAGCCACATCCATGTCTA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	324	0.0031	34	c.284 others(49): Show c.284+665_284+698dupTAAAAGATATTCTTGAGCCACATCCATGTC TAGG	DDTL	ENSG00000099974.8	transcript	ENST00000215770.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr22	TogoVar
DDT_chr22_23966370_23979441	23968223	G G	GGGTAAAA others(27): Show GGGTAAAAGATATTCTTGAGCCACATCCATGTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	316	0.0032	34	c.32 others(45): Show c.3294_*3327dupTAGACATGGATGTGGCTCAAGAATATCTTTTACC	DDT	ENSG00000099977.16	transcript	ENST00000398344.9	protein_coding		3146		chr22	TogoVar
DDX10_chr11_108660069_108945927	108837607	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	37	0.0270	34	c.196 others(51): Show c.1966-837_1966-804dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	74	0.0135	34	c.58 others(45): Show c.5810_*5811insAAAAAAAAAAAAATATATATATATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX28_chr16_68015916_68028232	68020829	G G	GTATATAT others(27): Show GTATATATATATATATACGTATGTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	370	0.0027	34	c.75 others(43): Show c.750_*751insTATATATATATACATACGTATATATATATATATA	DDX28	ENSG00000182810.7	transcript	ENST00000332395.7	protein_coding		86		chr16	TogoVar
DDX31_chr9_132587997_132674983	132632239	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02080.hp1 HG03654.hp2 HG00544.hp1 HG02080.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0002g0340 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0002g0340	3	130	0.0231	34	c.144 others(51): Show c.1441-149_1441-148insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX47_chr12_12808346_12834981	12809758	G G	GTATATAT others(27): Show GTATATATATATATATATATATATGTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	218	0.0046	34	c.-36 others(45): Show c.-3610_-3609insTATATATATATATATATATATATGTATATATATA	DDX47	ENSG00000213782.7	transcript	ENST00000358007.7	protein_coding		3587		chr12	TogoVar
DDX50_chr10_68896315_68951847	68929294	T T	TTCCTTCC others(27): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	217	0.0046	34	c.124 others(53): Show c.1240-4905_1240-4904insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTC	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14			chr10	TogoVar
DDX50_chr10_68896315_68951847	68931426	T T	TATGTATA others(27): Show TATGTATATATATATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG04184.hp2 HG02040.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0090 a0001c0001t0001g0067 a0001c0001t0001g0090	2	8	0.2500	34	c.124 others(53): Show c.1240-2772_1240-2771insTGTATATATATATACACACACACACA CACACACA	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68950653	A A	ACCGGTAG others(27): Show ACCGGTAGAGTGGGAATGAGAAGGATGTGAAGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0128 a0004c0009t0001g0128	1	332	0.0030	34	c.40 others(45): Show c.4023_*4024insCCGGTAGAGTGGGAATGAGAAGGATGTGAAGTGG	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding		3807		chr10	TogoVar
DDX51_chr12_132131594_132149319	132135724	A A	ACGGTGCC others(27): Show ACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	319	0.0031	34	c.35 others(45): Show c.3547_*3548insGGGCACACTCGGGAGGTGGGAGGAGCGGGCACCG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		869		chr12	TogoVar
DDX51_chr12_132131594_132149319	132136000	A A	ACGGTGCC others(27): Show ACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	332	0.0030	34	c.32 others(45): Show c.3271_*3272insGGGCACACTCGGGAGGTGGGAGGAGCGGGCACCG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		593		chr12	TogoVar
DDX51_chr12_132131594_132149319	132136238	A A	AGTGTGCC others(27): Show AGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0020 a0020	a0020c0024 a0020c0024	a0020c0024t0001 a0020c0024t0001	a0020c0024t0001g0040 a0020c0024t0001g0040	1	332	0.0030	34	c.30 others(45): Show c.3033_*3034insGGGGAGGTGGGAGGAGCGGGCACCGTGGGCACAC	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		355		chr12	TogoVar
DDX51_chr12_132131594_132149319	132136376	C C	CCCGAGTG others(27): Show CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03195.hp2 HG03041.hp2 HG03195.hp2	a0003 a0018 a0003 a0018	a0003c0006 a0018c0033 a0003c0006 a0018c0033	a0003c0006t0006 a0018c0033t0006 a0003c0006t0006 a0018c0033t0006	a0003c0006t0006g0081 a0018c0033t0006g0082 a0003c0006t0006g0081 a0018c0033t0006g0082	2	331	0.0060	34	c.28 others(45): Show c.2895_*2896insAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		217		chr12	TogoVar
DDX60L_chr4_168351735_168485492	168422999	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0002 a0015c0017t0002	a0015c0017t0002g0258 a0015c0017t0002g0258	1	208	0.0048	34	c.209 others(51): Show c.2098-330_2098-329insTACACACACACACACACACACACACACA CACACA	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	15/37			chr4	TogoVar
DEFA6_chr8_6919697_6931076	6929384	C C	CAACTGAA others(27): Show CAACTGAAACTGTTCCTTACACACTCTATCAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	470	0.0021	34	c.-33 others(45): Show c.-3350_-3349insAATCTGATAGAGTGTGTAAGGAACAGTTTCAGTT	DEFA6	ENSG00000164822.5	transcript	ENST00000297436.3	protein_coding		3309		chr8	TogoVar
DEFB116_chr20_31298212_31313585	31298455	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	35	0.0286	34	c.47 others(45): Show c.4756_*4757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DEFB116	ENSG00000215545.1	transcript	ENST00000400549.1	protein_coding		4756		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31466606	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02559.hp1 HG02896.hp2 others(4): Show HG01109.hp2 HG02559.hp1 HG02896.hp2 HG03130.hp2 HG03579.hp2 HG03669.hp2 HG04199.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0003c0002t0002 a0001c0001t0001 a0001c0001t0002 a0003c0002t0002	a0001c0001t0001g0173 a0001c0001t0002g0053 a0001c0001t0002g0097 others(4): Show a0001c0001t0001g0173 a0001c0001t0002g0053 a0001c0001t0002g0097 a0001c0001t0002g0124 a0001c0001t0002g0129 a0001c0001t0002g0131 a0003c0002t0002g0109	7	203	0.0345	34	c.59- others(47): Show c.59-944_59-943insATATATATATATATATATATATATATATATAT AT	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DENND11_chr7_141651728_141707166	141674230	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0055 a0001c0001t0008g0055	1	308	0.0032	34	c.528 others(47): Show c.528-11_528-10insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	DENND11	ENSG00000257093.7	transcript	ENST00000536163.6	protein_coding	3/8			chr7	TogoVar
DENND1A_chr9_123374658_123935126	123552018	C C	CGAGAGAG others(27): Show CGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA18965.hp2 HG01070.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0001 a0001c0022t0002 a0001c0001t0001 a0001c0022t0002	a0001c0001t0001g0004 a0001c0022t0002g0068 a0001c0001t0001g0004 a0001c0022t0002g0068	2	147	0.0136	34	c.993 others(51): Show c.993+5551_993+5552insTCTCTCTCTCTCTCTGTCTCTCTCTCTC TCTCTC	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123740899	T T	TGAGAGAG others(27): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	9	0.1111	34	c.302 others(53): Show c.302+16770_302+16803dupTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND2B_chr11_8688352_8815674	8771566	A A	AGAGAGAG others(27): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02083.hp1 HG03927.hp1 HG02004.hp2 HG02083.hp1 HG03927.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0325 a0001c0001t0001g0341 a0005c0005t0001g0338 a0001c0001t0001g0325 a0001c0001t0001g0341 a0005c0005t0001g0338	3	278	0.0108	34	c.-25 others(53): Show c.-25-20842_-25-20841insGCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC	DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	1/19			chr11	TogoVar
DENND2D_chr1_111180969_111205646	111181476	T T	TAAACACA others(27): Show TAAACACATTTTCATTAATTTGTTACTGTTATTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	470	0.0021	34	c.61 others(45): Show c.6128_*6129insTTAATAACAGTAACAAATTAATGAAAATGTGTTT	DENND2D	ENSG00000162777.17	transcript	ENST00000357640.9	protein_coding		4492		chr1	TogoVar
DENND4A_chr15_65654123_65797293	65676141	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA19001.hp2 NA18941.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0007 a0001c0001t0001g0008	2	164	0.0122	34	c.436 others(51): Show c.4369+303_4369+304insATATATATATATATATATATATATATAT ATATAT	DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	24/32			chr15	TogoVar
DENND4A_chr15_65654123_65797293	65720947	T T	TTACATAT others(27): Show TTACATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0268 a0001c0002t0002g0268	1	17	0.0588	34	c.158 others(53): Show c.1588+1900_1588+1901insTATATATATATATATATATATATATA TATATGTA	DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	12/32			chr15	TogoVar
DENND4A_chr15_65654123_65797293	65720947	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19060.hp2 NA19077.hp2 HG02647.hp1 NA19060.hp2 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0005 a0001c0002t0002 a0002c0003t0005	a0001c0002t0002g0244 a0001c0002t0002g0270 a0002c0003t0005g0301 a0001c0002t0002g0244 a0001c0002t0002g0270 a0002c0003t0005g0301	3	19	0.1579	34	c.158 others(53): Show c.1588+1867_1588+1900dupTATATATATATATATATATATATATA TATATATA	DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	12/32			chr15	TogoVar
DENND4A_chr15_65654123_65797293	65720947	T T	TTCTATAT others(27): Show TTCTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0109 a0001c0001t0004g0109	1	17	0.0588	34	c.158 others(53): Show c.1588+1900_1588+1901insTATATATATATATATATATATATATA TATATAGA	DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	12/32			chr15	TogoVar
DENND4A_chr15_65654123_65797293	65720947	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp2 HG01168.hp1 others(2): Show HG00642.hp1 HG01069.hp2 HG01168.hp1 HG01192.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0099 others(2): Show a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0104	5	21	0.2381	34	c.158 others(53): Show c.1588+1900_1588+1901insTATATATATATATATATATATATATA TATATAAA	DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	12/32			chr15	TogoVar
DENND5B_chr12_31377226_31596136	31494220	C C	CCACCCAC others(27): Show CCACCCACCCACCCACCCACCCACCCACCCACCCA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0120 a0001c0001t0009g0120	1	284	0.0035	34	c.237 others(51): Show c.237+1589_237+1590insTGGGTGGGTGGGTGGGTGGGTGGGTGGG TGGGTG	DENND5B	ENSG00000170456.16	transcript	ENST00000389082.10	protein_coding	2/20			chr12	TogoVar
DENND5B_chr12_31377226_31596136	31494220	C C	CCACCCAC others(27): Show CCACCCACCCACCCACCCACCCACCCACCCACCTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0154 a0001c0001t0009g0154	1	284	0.0035	34	c.237 others(51): Show c.237+1589_237+1590insTAGGTGGGTGGGTGGGTGGGTGGGTGGG TGGGTG	DENND5B	ENSG00000170456.16	transcript	ENST00000389082.10	protein_coding	2/20			chr12	TogoVar
DENND6A_chr3_57620454_57698077	57695342	G G	GGCTGGTT others(27): Show GGCTGGTTCTTCTCTGAGCTTCGACTCAAGTACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0265 a0001c0003t0008g0265	1	330	0.0030	34	c.-23 others(45): Show c.-2325_-2324insAAGTACTTGAGTCGAAGCTCAGAGAAGAACCAGC	DENND6A	ENSG00000174839.13	transcript	ENST00000311128.10	protein_coding		2266		chr3	TogoVar
DEPDC5_chr22_31749019_31913033	31864501	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0180 a0001c0002t0003g0180	1	101	0.0099	34	c.333 others(53): Show c.3330+3092_3330+3093insATATATATATATATATATATATATAT ATATATAT	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	33/42		INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPDC5_chr22_31749019_31913033	31902407	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0090 a0003c0004t0007g0090	1	194	0.0052	34	c.443 others(51): Show c.4436+605_4436+606insATATATATATATATATATATATATATAT ATATAT	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	41/42			chr22	TogoVar
DEPDC5_chr22_31749019_31913033	31902408	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01074.hp2 HG01516.hp2 others(2): Show HG01070.hp2 HG01074.hp2 HG01516.hp2 HG01517.hp1 HG02273.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0008 a0005c0006 a0001c0002 a0001c0008 a0005c0006	a0001c0002t0003 a0001c0008t0001 a0005c0006t0009 a0001c0002t0003 a0001c0008t0001 a0005c0006t0009	a0001c0002t0003g0179 a0001c0002t0003g0186 a0001c0008t0001g0183 others(2): Show a0001c0002t0003g0179 a0001c0002t0003g0186 a0001c0008t0001g0183 a0005c0006t0009g0009 a0005c0006t0009g0010	5	43	0.1163	34	c.443 others(51): Show c.4436+634_4436+635insTATATATATATATATATATATATATATA TATATA	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	41/42		INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPTOR_chr8_119868722_120055918	120002789	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp2 NA19012.hp1 NA19012.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0012 a0003c0004t0002 a0001c0003t0012 a0003c0004t0002	a0001c0003t0012g0146 a0003c0004t0002g0176 a0001c0003t0012g0146 a0003c0004t0002g0176	2	196	0.0102	34	c.791 others(49): Show c.791-187_791-186insTATATATATATATATATATATATATATATA TATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120002791	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0173 a0003c0004t0002g0173	1	42	0.0238	34	c.791 others(49): Show c.791-185_791-184insAAAATATATATATATATATATATATATATA TATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120010230	G G	GTACAAAG others(27): Show GTACAAAGAGCTACACAAACAACAATTCATTAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp2 HG02622.hp1 others(2): Show HG02280.hp2 HG02572.hp2 HG02622.hp1 HG02897.hp2 HG03486.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0002c0005 a0004c0006 others(1): Show a0002c0001 a0002c0005 a0004c0006 a0004c0010	a0002c0001t0001 a0002c0005t0001 a0004c0006t0001 others(1): Show a0002c0001t0001 a0002c0005t0001 a0004c0006t0001 a0004c0010t0001	a0002c0001t0001g0131 a0002c0005t0001g0089 a0004c0006t0001g0007 others(2): Show a0002c0001t0001g0131 a0002c0005t0001g0089 a0004c0006t0001g0007 a0004c0010t0001g0063 a0004c0010t0001g0064	5	196	0.0255	34	c.110 others(53): Show c.1101+1129_1101+1130insAATACAAAGAGCTACACAAACAACAA TTCATTAA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DET1_chr15_88507480_88551681	88536770	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	272	0.0037	34	c.-10 others(51): Show c.-10-5056_-10-5055insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	DET1	ENSG00000140543.15	transcript	ENST00000268148.13	protein_coding	1/4			chr15	TogoVar
DFFB_chr1_3852476_3890429	3872630	G G	GCGGCCCT others(27): Show GCGGCCCTGTCCCTGCCGCGGCCCTGTCCCTGCCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG03486.hp2 HG02451.hp1 HG02559.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0007g0318 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0007g0318	3	391	0.0077	34	c.782 others(47): Show c.782+58_782+59insCGGCCCTGTCCCTGCCGCGGCCCTGTCCCTGC CA	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	6/6			chr1	TogoVar
DGAT1_chr8_144309584_144331852	144313743	C C	CTCCCCGC others(27): Show CTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	344	0.0029	34	c.28 others(45): Show c.2810_*2811insCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGA	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		840		chr8	TogoVar
DGAT1_chr8_144309584_144331852	144313795	C C	CTCCCCGC others(27): Show CTCCCCGCGCCGCCCCGCCTCCCCGCCTCCCCGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0036 a0001c0001t0026g0036	1	164	0.0061	34	c.27 others(45): Show c.2758_*2759insAGCGGGGAGGCGGGGAGGCGGGGCGGCGCGGGGA	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		788		chr8	TogoVar
DGCR2_chr22_19031286_19127412	19062779	A A	ACTCTCTC others(27): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG04228.hp2 NA18747.hp2 others(3): Show HG00408.hp2 HG04228.hp2 NA18747.hp2 NA18965.hp1 NA19091.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0134 a0002c0002t0002g0154 a0002c0002t0002g0156 others(3): Show a0002c0002t0002g0134 a0002c0002t0002g0154 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0176 a0002c0002t0002g0177	6	142	0.0423	34	c.625 others(49): Show c.625+422_625+423insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	5/9			chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322830	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGCGCGCGCTGCGCAGCGCGCGCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0045	1	388	0.0026	34	c.-28 others(45): Show c.-2843_-2842insGTGCGCGCGCTGCGCAGCGCGCGCACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2771		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(27): Show TGTGTGTGCGCGCAGCGCAGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	35	0.0286	34	c.-28 others(45): Show c.-2845_-2844insGCGTGCGCGCGCGCGCTGCGCTGCGCGCACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGCGCGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01168.hp2 HG00642.hp1 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	2	36	0.0556	34	c.-28 others(45): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCGCGCACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar

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