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
DENND1A_chr9_123374658_123935126	123495141	T T	TTCTCTCT others(41): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0157 a0001c0001t0003g0157	1	21	0.0476	48	c.994 others(67): Show c.994-37245_994-37244insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123690052	A A	AGGAGGGA others(41): Show AGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGAAGGAAAGGAGGGAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	154	0.0065	48	c.303 others(67): Show c.303-13264_303-13263insCTCCCTCCTTTCCTTCTTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCC	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123711486	A A	AAAATATA others(41): Show AAAATATATATATATATGTATATATGTATATATATATATATATATGTAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0012	1	94	0.0106	48	c.303 others(67): Show c.303-34698_303-34697insATACATATATATATATATATATACAT ATATACATATATATATATATTT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1B_chr1_197499748_197780480	197770820	G G	GTAAATGT others(41): Show GTAAATGTATATCTATAAATATATATAAATATATATCTATAAATATATA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18945.hp2 NA19006.hp1 others(1): Show NA18612.hp1 NA18945.hp2 NA19006.hp1 NA19072.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0004 a0002c0004t0010g0005 a0002c0004t0010g0006 others(1): Show a0002c0004t0010g0004 a0002c0004t0010g0005 a0002c0004t0010g0006 a0002c0004t0010g0007	4	202	0.0198	48	c.82+ others(63): Show c.82+2047_82+2048insTATATATTTATAGATATATATTTATATATA TTTATAGATATACATTTA	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	2/22			chr1	TogoVar
DENND4A_chr15_65654123_65797293	65720947	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0204 a0001c0002t0002g0204	1	17	0.0588	48	c.158 others(67): Show c.1588+1900_1588+1901insTATATATATATATATATATATATATA TATATATATATATATATATATA	DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	12/32			chr15	TogoVar
DENND6B_chr22_50304030_50332012	50307773	G G	GGAGGGGG others(41): Show GGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGAAGAGGGGGGAGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0274 a0002c0002t0001g0274	1	120	0.0083	48	c.43 others(59): Show c.4365_*4366insTTCCCCCTCCCCCCTCTTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1256		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50307775	A A	AGGGGGGA others(41): Show AGGGGGGAGGGGAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0236 a0001c0003t0016g0236	1	321	0.0031	48	c.43 others(59): Show c.4363_*4364insCTCTTCCCCCTCCCCCTCTTCCCCCTCCCCTCCC CCTCCCCTCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1254		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50307831	G G	GAAGAGGG others(41): Show GAAGAGGGGGAGGGGGGGAGAGGGGGAGGGGGGGAGAGGGGGAGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	316	0.0032	48	c.43 others(59): Show c.4307_*4308insTCCCCCTCCCCCTCTCCCCCCCTCCCCCTCTCCC CCCCTCCCCCTCTT	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1198		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316980	C C	CGGGGGGG others(41): Show CGGGGGGGGCCACGAGGACAGGGTGGGGGGGGGGCGGCGAGGACAGGAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0013 a0003c0007t0013	a0003c0007t0013g0269 a0003c0007t0013g0269	1	297	0.0034	48	c.453 others(63): Show c.453+312_453+313insATCCTGTCCTCGCCGCCCCCCCCCCACCCT GTCCTCGTGGCCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50317020	C C	CAGGGTGG others(41): Show CAGGGTGGGGGGGCGGCGAGGACAGGGCGGGGGGCCCCGAGGACAGGGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0032 a0002c0002t0032	a0002c0002t0032g0015 a0002c0002t0032g0015	1	72	0.0139	48	c.453 others(63): Show c.453+272_453+273insACCCTGTCCTCGGGGCCCCCCGCCCTGTCC TCGCCGCCCCCCCACCCT	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DEPDC1B_chr5_60591912_60705166	60667912	T T	TGTAAAAA others(41): Show TGTAAAAAATGGATATTTTATATATTAAAAAATGGATATTTTATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0084 a0001c0001t0007g0084	1	278	0.0036	48	c.314 others(67): Show c.314+19049_314+19050insTATATATAAAATATCCATTTTTTAAT ATATAAAATATCCATTTTTTAC	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60667991	T T	TTATATAT others(41): Show TTATATATATAAAATGGATATTTTATATATATATAAAATGGATATTTTA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02818.hp2 HG03453.hp2 HG02135.hp1 HG02818.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0097 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0001g0097 a0001c0001t0002g0078 a0001c0001t0002g0079	3	177	0.0169	48	c.314 others(67): Show c.314+18923_314+18970dupTAAAATATCCATTTTATATATATATA AAATATCCATTTTATATATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60699443	G G	GAAAAAAA others(41): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	77	0.0130	48	c.48+ others(61): Show c.48+602_48+603insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	1/10			chr5	TogoVar
DEPTOR_chr8_119868722_120055918	119887143	T T	TCCCCTCC others(41): Show TCCCCTCCCCCCCCTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTCCTCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0009 a0004c0006t0009	a0004c0006t0009g0196 a0004c0006t0009g0196	1	184	0.0054	48	c.122 others(67): Show c.122+13177_122+13178insCCTCCCCCCCCTCCTCCCCTCCCCTC CCCCCCTCCTCCCCTCCTCCCC	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	119887143	T T	TCCCCTCC others(41): Show TCCCCTCCCCCCCTCCTCCCCTCCCCTCCCCCCCCTCCTCCCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0009 a0004c0006t0009	a0004c0006t0009g0195 a0004c0006t0009g0195	1	184	0.0054	48	c.122 others(67): Show c.122+13177_122+13178insCCTCCCCCCCTCCTCCCCTCCCCTCC CCCCCCTCCTCCCCTCCTCCCC	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	119887145	C C	CCCTCCCC others(41): Show CCCTCCCCCCCTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0192 a0003c0008t0002g0192	1	196	0.0051	48	c.122 others(67): Show c.122+13177_122+13178insCCTCCCCCCCTCCTCCCCTCCCCTCC CCCCCTCCTCCCCTCCTCCCCT	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	1/8			chr8	TogoVar
DESI1_chr22_41593028_41626043	41594335	G G	GGGTGGGG others(41): Show GGGTGGGGGGGGTGGGGGGGTGGGGGGGCGGTGGGGGGGTGGGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02056.hp1 HG02027.hp2 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0113 a0001c0001t0001g0118	2	195	0.0103	48	c.67 others(59): Show c.6761_*6762insGCCTCCCCCACCCCCCCACCGCCCCCCCACCCCC CCACCCCCCCCACC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3692		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594335	G G	GGGTGGGG others(41): Show GGGTGGGGGGGTGGGGGGGTGGGGGAGGCGGTGGGGGGGTGGGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp2 HG02083.hp1 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0042 a0001c0001t0001g0005 a0001c0001t0001g0042	2	195	0.0103	48	c.67 others(59): Show c.6761_*6762insGCCTCCCCCACCCCCCCACCGCCTCCCCCACCCC CCCACCCCCCCACC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3692		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594338	T T	TGGGGGGG others(41): Show TGGGGGGGTGGGGGGGTGGGGGGGCGGTGGGGGGGTGGGGGAGGCGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	238	0.0042	48	c.67 others(59): Show c.6758_*6759insCACCGCCTCCCCCACCCCCCCACCGCCCCCCCAC CCCCCCACCCCCCC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3689		chr22	TogoVar
DGAT1_chr8_144309584_144331852	144313736	G G	GCCTCCCC others(41): Show GCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	237	0.0042	48	c.28 others(59): Show c.2817_*2818insGGGAGGCGGGGAGGCGGGGAGGCGGCGCGGGGAG GCGGCGCGGGGAGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		847		chr8	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(41): Show TGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	35	0.0286	48	c.-28 others(59): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCGCGCGCGCGCACAC ACACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGKB_chr7_14140049_14907751	14461324	T T	TTTTTTTT others(41): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0064 a0001c0002t0009g0064	1	144	0.0069	48	c.183 others(69): Show c.1835+16836_1835+16837insGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DGKG_chr3_186142201_186367234	186299767	C C	CTCTTTCT others(41): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 NA19043.hp1 HG02895.hp2 HG02897.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0018 a0001c0002 a0001c0018	a0001c0002t0003 a0001c0018t0008 a0001c0002t0003 a0001c0018t0008	a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0018t0008g0217 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0018t0008g0217	3	135	0.0222	48	c.145 others(65): Show c.145-1539_145-1538insAAGAAGGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	3/24			chr3	TogoVar
DIAPH1_chr5_141510021_141624000	141591712	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0175 a0007c0010t0001g0175	1	291	0.0034	48	c.118 others(65): Show c.118-3463_118-3462insAATATATATAAATATATATATATATATA TATATATATATATATATATA	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH2_chrX_96679842_97609997	96939668	A A	ATTTTTTT others(41): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	104	0.0096	48	c.132 others(65): Show c.1325+300_1325+301insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97129122	T T	TTTTCTTT others(41): Show TTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0143 a0001c0001t0019g0143	1	142	0.0070	48	c.259 others(69): Show c.2590-12531_2590-12530insCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTCTTTTCTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	21/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185399	A A	ATATATGT others(41): Show ATATATGTGTGTATATATATATGTATATATATATGTATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	144	0.0069	48	c.271 others(69): Show c.2719+43610_2719+43611insGTGTGTATATATATATGTATATAT ATATGTATATATATATGTGTATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97570111	T T	TATATATA others(41): Show TATATATATAATATATATAATATATATAATTCTTCTAATATATATAATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0056 a0001c0001t0007g0056	1	146	0.0068	48	c.324 others(69): Show c.3242-29133_3242-29132insATATATATAATATATATAATTCTT CTAATATATATAATAATATATATA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	26/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIDO1_chr20_62872743_62931505	62875350	T T	TCACCCCC others(41): Show TCACCCCCACCCCCACCCCCACCCCCACCCTCACCCGCACCCGCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0005 a0006c0008t0005	a0006c0008t0005g0170 a0006c0008t0005g0170	1	258	0.0039	48	c.38 others(59): Show c.3882_*3883insGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGGGGG TGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2392		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875350	T T	TCACCCCC others(41): Show TCACCCCCACCCGCACCCCCACCCTCACCCGCACCCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0018 a0018	a0018c0048 a0018c0048	a0018c0048t0002 a0018c0048t0002	a0018c0048t0002g0145 a0018c0048t0002g0145	1	258	0.0039	48	c.38 others(59): Show c.3882_*3883insGGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGG TGCGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2392		chr20	TogoVar
DIP2B_chr12_50499985_50753657	50593819	C C	CCCCCTCC others(41): Show CCCCCTCCCCTCCCCTCCCCTCCCCTGTCCCCTCCCCTCCCGTCCCCTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0063 a0001c0003t0002g0063	1	276	0.0036	48	c.101 others(67): Show c.101-32154_101-32153insCTCCCCTCCCCTCCCCTCCCCTGTCC CCTCCCCTCCCGTCCCCTTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593819	C C	CCCCTCCC others(41): Show CCCCTCCCCTCCCCCTCCCCTCCCCTGTCCCCTCCCCTCCCGTCCCCTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0071 a0001c0003t0002g0071	1	276	0.0036	48	c.101 others(67): Show c.101-32145_101-32144insCCTCCCCTCCCCTGTCCCCTCCCCTC CCGTCCCCTTCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	347206	G G	GCACCCAA others(41): Show GCACCCAACCCACACACATCGTGCACAGTTCTCCCGGAAACCCCACACT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	3	0.3333	48	c.323 others(67): Show c.3231+1434_3231+1435insAGTGTGGGGTTTCCGGGAGAACTGTG CACGATGTGTGTGGGTTGGGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	26/36			chr10	TogoVar
DIP2C_chr10_269201_694668	347227	T T	TGCACAGT others(41): Show TGCACAGTTCTCCCGGAAACCCCACACTCACCCAACCCAGACACATCGC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01981.hp2 HG01258.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0044 a0001c0001t0003g0008 a0001c0001t0001g0044 a0001c0001t0003g0008	2	88	0.0227	48	c.323 others(67): Show c.3231+1413_3231+1414insGCGATGTGTCTGGGTTGGGTGAGTGT GGGGTTTCCGGGAGAACTGTGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	26/36			chr10	TogoVar
DIP2C_chr10_269201_694668	358773	G G	GTGGGAGG others(41): Show GTGGGAGGTGGGGGACGGGGGTGGGAGGTGGGGGACGGGGGACGGGGGA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0031 a0001c0002t0003g0031	1	61	0.0164	48	c.279 others(65): Show c.2795-837_2795-836insTCCCCCGTCCCCCGTCCCCCACCTCCCA CCCCCGTCCCCCACCTCCCA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	22/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478371	G G	GGGGAGAG others(41): Show GGGGAGAGGAGGAGAGAAGGAGAGGGGCGGGGCGGGGCAGGGCGGGGCA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp1 HG02280.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0003 a0001c0001t0001 a0001c0009t0003	a0001c0001t0001g0014 a0001c0009t0003g0003 a0001c0001t0001g0014 a0001c0009t0003g0003	2	81	0.0247	48	c.158 others(65): Show c.158-5823_158-5822insTGCCCCGCCCTGCCCCGCCCCGCCCCTC TCCTTCTCTCCTCCTCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608527	C C	CCCCCACA others(41): Show CCCCCACACACACACACCCCCCCACACACACACACACCCCCCCCACACA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	61	0.0164	48	c.85+ others(65): Show c.85+80966_85+80967insTGTGTGGGGGGGGTGTGTGTGTGTGTGG GGGGGTGTGTGTGTGTGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK1A_chr1_92837167_92966462	92846848	T T	TATACACA others(41): Show TATACACACACGTATATATATATATACACACACGTATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	76	0.0132	48	c.474 others(63): Show c.474+334_474+335insGTATATATATATATACGTGTGTGTATATAT ATATATACGTGTGTGTAT	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	4/4			chr1	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01516.hp1 HG03017.hp1 HG01081.hp2 HG01516.hp1 HG03017.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0145 a0001c0003t0004g0160 a0001c0003t0004g0169 a0001c0003t0004g0145 a0001c0003t0004g0160 a0001c0003t0004g0169	3	13	0.2308	48	c.558 others(63): Show c.558+251_558+252insAAAAAAAAAAAATATATATATATATATATA TATATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAATA others(41): Show AAAAAATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0005 a0011c0014t0005	a0011c0014t0005g0320 a0011c0014t0005g0320	1	11	0.0909	48	c.558 others(63): Show c.558+251_558+252insAAAATATATATATATATATATATATATATA TATATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DISC1_chr1_231621790_232046272	231733094	T T	TAGTGGTT others(41): Show TAGTGGTTATAGGAGTGGTGGTGGTTATGGTAGGAGTGGTGGTTGTAGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01496.hp1 HG02155.hp1 others(5): Show HG00639.hp2 HG01496.hp1 HG02155.hp1 HG02273.hp1 HG03130.hp1 HG04115.hp2 NA18983.hp1 NA19000.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0012 a0002c0004 a0002c0009 others(2): Show a0001c0012 a0002c0004 a0002c0009 a0004c0013 a0006c0010	a0001c0012t0017 a0002c0004t0001 a0002c0004t0003 others(4): Show a0001c0012t0017 a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 a0002c0009t0001 a0004c0013t0002 a0006c0010t0003	a0001c0012t0017g0039 a0002c0004t0001g0003 a0002c0004t0003g0026 others(5): Show a0001c0012t0017g0039 a0002c0004t0001g0003 a0002c0004t0003g0026 a0002c0004t0003g0028 a0002c0004t0004g0004 a0002c0009t0001g0006 a0004c0013t0002g0030 a0006c0010t0003g0027	8	38	0.2105	48	c.111 others(69): Show c.1118-16830_1118-16829insTGGTTATAGGAGTGGTGGTGGTTA TGGTAGGAGTGGTGGTTGTAGCAG	DISC1	ENSG00000162946.24	transcript	ENST00000439617.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0134 a0001c0003t0134	a0001c0003t0134g0003 a0001c0003t0134g0003	1	146	0.0068	48	c.36 others(59): Show c.3697_*3698insAAAAAAAAAAAAAAAAAAAAAATATATATATATA TATATATATATATA	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	8/8	3698	INFO_REALIGN_3_PRIME	chr15	TogoVar
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01981.hp1 HG02027.hp1 NA19063.hp2 HG01981.hp1 HG02027.hp1 NA19063.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0046 a0001c0003t0142 a0001c0003t0046 a0001c0003t0142	a0001c0003t0046g0003 a0001c0003t0046g0013 a0001c0003t0142g0003 a0001c0003t0046g0003 a0001c0003t0046g0013 a0001c0003t0142g0003	3	148	0.0203	48	c.36 others(59): Show c.3697_*3698insAAAAAAAAAAAAAAAAAAAATATATATATATATA TATATATATATATA	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	8/8	3698	INFO_REALIGN_3_PRIME	chr15	TogoVar
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0149 a0001c0003t0149	a0001c0003t0149g0003 a0001c0003t0149g0003	1	146	0.0068	48	c.36 others(59): Show c.3697_*3698insAAAAAAAAAAAAAAAAAATATATATATATATATA TATATATATATATA	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	8/8	3698	INFO_REALIGN_3_PRIME	chr15	TogoVar
DLG1_chr3_197037560_197303612	197046181	C C	CAGAGCAT others(41): Show CAGAGCATTTCATAGTTTAGGTTGACAACAGCACGCAAGGATTTATTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0111 a0001c0003t0019g0111	1	330	0.0030	48	c.257 others(67): Show c.2576-1500_2576-1453dupAAAATAAATCCTTGCGTGCTGTTGTC AACCTAAACTATGAAATGCTCT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	24/24			chr3	TogoVar
DLGAP1_chr18_3491032_4460307	4120722	C C	CCTTCCTT others(41): Show CCTTCCTTCCCTCTCTCCCTCCCTCCGTCCCTTCCTTTCCTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03471.hp1 HG03669.hp2 HG01981.hp2 HG03471.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0011 a0001c0004t0015 a0001c0001t0001 a0001c0003t0011 a0001c0004t0015	a0001c0001t0001g0018 a0001c0003t0011g0010 a0001c0004t0015g0062 a0001c0001t0001g0018 a0001c0003t0011g0010 a0001c0004t0015g0062	3	76	0.0395	48	c.-15 others(69): Show c.-159+30457_-159+30458insAAGGAAGGAGGAAAGGAAGGGACG GAGGGAGGGAGAGAGGGAAGGAAG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	2/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4265663	C C	CCCTCCCT others(41): Show CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0013	a0001c0006t0013g0073 a0001c0006t0013g0073	1	33	0.0303	48	c.-26 others(71): Show c.-266-114377_-266-114376insAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGGAGGGAGG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	1/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4265663	C C	CCCTTCCT others(41): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	33	0.0303	48	c.-26 others(71): Show c.-266-114377_-266-114376insAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	1/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4265698	T T	TTCCTTCC others(41): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0043 a0001c0001t0022g0043	1	77	0.0130	48	c.-26 others(71): Show c.-266-114412_-266-114411insGGGAGGGAGGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	1/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	1227151	G G	GAGATATA others(41): Show GAGATATATATATATATATATATATTATAGATATATATATATATAGTAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0032 a0002c0001t0002g0032	1	34	0.0294	48	c.74- others(65): Show c.74-31677_74-31676insTTATAGATATATATATATATAGTATAGA TATATATATATATATATATA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar

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