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
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	74	0.0135	17	c.58 others(28): Show c.5810_*5811insAAAAAAAATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02055.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0239 a0001c0001t0001g0240	2	75	0.0267	17	c.58 others(28): Show c.5810_*5811insAAAAAATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA19010.hp1 NA18967.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0048 a0001c0001t0001g0049	2	75	0.0267	17	c.58 others(28): Show c.5810_*5811insAAAATATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAATATA others(10): Show AAAATATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	74	0.0135	17	c.58 others(28): Show c.5810_*5811insAAATATATATATTATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	ATATATAT others(10): Show ATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 NA18990.hp1 HG02523.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0083 a0001c0001t0002g0131 a0001c0001t0001g0083 a0001c0001t0002g0131	2	75	0.0267	17	c.58 others(28): Show c.5810_*5811insTATATATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX21_chr10_68951170_68990068	68952889	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01106.hp1 HG02071.hp2 others(12): Show HG01081.hp2 HG01106.hp1 HG02071.hp2 HG02602.hp2 HG02738.hp2 HG02970.hp2 HG03471.hp1 HG03654.hp1 HG03688.hp2 HG04184.hp2 NA18975.hp1 NA18975.hp2 NA19064.hp1 NA19091.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0138 others(12): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0009g0002	15	32	0.4688	17	c.-33 others(28): Show c.-3337_-3336insTTTTTTTTTTTTTTTTT	DDX21	ENSG00000165732.14	transcript	ENST00000354185.9	protein_coding		3280		chr10	TogoVar
DDX50_chr10_68896315_68951847	68931446	C C	CACACACA others(10): Show CACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	331	0.0030	17	c.124 others(36): Show c.1240-2752_1240-2751insCACACACACACACACAA	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68931447	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	330	0.0030	17	c.124 others(36): Show c.1240-2752_1240-2751insCACACACACACACACAC	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14			chr10	TogoVar
DDX52_chr17_37604739_37648446	37616662	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0015 a0002c0007t0015	a0002c0007t0015g0049 a0002c0007t0015g0049	1	405	0.0025	17	c.174 others(36): Show c.1742+1629_1742+1630insTTTTTTTTTTTTTTTTT	DDX52	ENSG00000278053.5	transcript	ENST00000617633.5	protein_coding	14/14			chr17	TogoVar
DDX60L_chr4_168351735_168485492	168454758	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02818.hp1 HG03225.hp1 HG02622.hp1 HG02818.hp1 HG03225.hp1	a0002 a0004 a0002 a0004	a0002c0004 a0004c0011 a0002c0004 a0004c0011	a0002c0004t0002 a0004c0011t0001 a0004c0011t0005 a0002c0004t0002 a0004c0011t0001 a0004c0011t0005	a0002c0004t0002g0076 a0004c0011t0001g0170 a0004c0011t0005g0118 a0002c0004t0002g0076 a0004c0011t0001g0170 a0004c0011t0005g0118	3	53	0.0566	17	c.837 others(34): Show c.837+1264_837+1280dupAAAAAAAAAAAAAAAAA	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	7/37			chr4	TogoVar
DDX60L_chr4_168351735_168485492	168455272	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0056 a0002c0004t0002g0056	1	40	0.0250	17	c.837 others(32): Show c.837+766_837+767insCACACACACACACACAC	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	7/37			chr4	TogoVar
DDX60L_chr4_168351735_168485492	168484059	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG04199.hp2 HG00735.hp2 HG04199.hp2	a0006 a0018 a0006 a0018	a0006c0006 a0018c0045 a0006c0006 a0018c0045	a0006c0006t0002 a0018c0045t0001 a0006c0006t0002 a0018c0045t0001	a0006c0006t0002g0128 a0018c0045t0001g0130 a0006c0006t0002g0128 a0018c0045t0001g0130	2	93	0.0215	17	c.-38 others(28): Show c.-3810_-3794dupAAAAAAAAAAAAAAAAA	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding		3568		chr4	TogoVar
DDX60_chr4_168211294_168323752	168215492	C C	CAAAACAA others(10): Show CAAAACAAAACAAAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01934.hp1 HG01928.hp1 HG01934.hp1	a0001 a0002 a0001 a0002	a0001c0016 a0002c0002 a0001c0016 a0002c0002	a0001c0016t0001 a0002c0002t0001 a0001c0016t0001 a0002c0002t0001	a0001c0016t0001g0247 a0002c0002t0001g0226 a0001c0016t0001g0247 a0002c0002t0001g0226	2	186	0.0108	17	c.14 others(28): Show c.1440_*1441insTTGTTTTGTTTTGTTTT	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding		801		chr4	TogoVar
DDX60_chr4_168211294_168323752	168234884	T T	TTTACAGT others(10): Show TTTACAGTTTTAGTAAGC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	268	0.0037	17	c.453 others(36): Show c.4533+1351_4533+1367dupGCTTACTAAAACTGTAA	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	33/37			chr4	TogoVar
DDX6_chr11_118742763_118796164	118764817	A A	ATATACAC others(10): Show ATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03831.hp2 HG00738.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0169 a0001c0001t0008g0320 a0001c0001t0004g0169 a0001c0001t0008g0320	2	257	0.0078	17	c.646 others(32): Show c.646+391_646+392insGTGTGTGTGTGTGTATA	DDX6	ENSG00000110367.14	transcript	ENST00000534980.7	protein_coding	6/13			chr11	TogoVar
DDX6_chr11_118742763_118796164	118768987	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0226 a0001c0001t0055g0226	1	35	0.0286	17	c.370 others(32): Show c.370-652_370-636dupTTTTTTTTTTTTTTTTT	DDX6	ENSG00000110367.14	transcript	ENST00000534980.7	protein_coding	4/13			chr11	TogoVar
DDX6_chr11_118742763_118796164	118783810	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00673.hp1 others(4): Show HG00438.hp2 HG00609.hp1 HG00673.hp1 HG04115.hp1 NA18968.hp1 NA18969.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0048 others(1): Show a0001c0001t0006 a0001c0001t0013 a0001c0001t0048 a0001c0001t0104	a0001c0001t0006g0247 a0001c0001t0006g0263 a0001c0001t0013g0012 others(3): Show a0001c0001t0006g0247 a0001c0001t0006g0263 a0001c0001t0013g0012 a0001c0001t0013g0264 a0001c0001t0048g0266 a0001c0001t0104g0265	7	39	0.1795	17	c.200 others(34): Show c.200+2241_200+2242insTTTTTTTTTTTTTTTTT	DDX6	ENSG00000110367.14	transcript	ENST00000534980.7	protein_coding	2/13			chr11	TogoVar
DEAF1_chr11_639233_700222	675996	G G	GCACCCCA others(10): Show GCACCCCATGGCACCCGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0305 a0001c0002t0001g0305	1	343	0.0029	17	c.125 others(36): Show c.1256-1214_1256-1213insTCGGGTGCCATGGGGTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	9/11			chr11	TogoVar
DECR1_chr8_89996477_90058633	90056954	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	293	0.0034	17	c.50 others(28): Show c.5057_*5058insTTTTTTTTTTTTTTTTT	DECR1	ENSG00000104325.7	transcript	ENST00000220764.7	protein_coding		3322		chr8	TogoVar
DECR2_chr16_396885_417482	397646	C C	CCCGGCCG others(10): Show CCCGGCCGGAGGGGGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	365	0.0027	17	c.-43 others(28): Show c.-4318_-4317insCCGGCCGGAGGGGGTCT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4238		chr16	TogoVar
DEFA1_chr8_6972649_6985092	6974207	T T	TTTTCTTT others(10): Show TTTTCTTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01884.hp1 HG02896.hp2 others(1): Show HG00639.hp1 HG01884.hp1 HG02896.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0001 a0001c0001t0004 a0001c0003t0001	a0001c0001t0004g0005 a0001c0003t0001g0001 a0001c0001t0004g0005 a0001c0003t0001g0001	4	33	0.1212	17	c.35 others(28): Show c.3562_*3563insGAAAGAAAGAAAAGAAA	DEFA1	ENSG00000206047.4	transcript	ENST00000382692.3	protein_coding		3441		chr8	TogoVar
DEFB103A_chr8_7876392_7887663	7885948	T T	TAAGAGAG others(10): Show TAAGAGAGACGATTGTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	170	0.0059	17	c.33 others(28): Show c.3380_*3381insAAGAGAGACGATTGTAG	DEFB103A	ENSG00000176797.4	transcript	ENST00000314357.4	protein_coding		3286		chr8	TogoVar
DEFB105A_chr8_7816004_7828880	7816064	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0012 a0004c0004t0012	a0004c0004t0012g0016 a0004c0004t0012g0016	1	9	0.1111	17	c.59 others(28): Show c.5943_*5944insAAAAAAAAAAAAAAAAA	DEFB105A	ENSG00000186562.8	transcript	ENST00000334773.7	protein_coding		4939		chr8	TogoVar
DEFB106A_chr8_7820139_7834053	7829533	T T	TCCCCCCC others(10): Show TCCCCCCCTCCCCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	145	0.0069	17	c.58 others(26): Show c.580_*581insCCCCCCCTCCCCCCTCC	DEFB106A	ENSG00000186579.3	transcript	ENST00000335186.3	protein_coding		481		chr8	TogoVar
DEFB106A_chr8_7820139_7834053	7829540	T T	TCCCCCCC others(10): Show TCCCCCCCTCCCCCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	155	0.0065	17	c.58 others(26): Show c.587_*588insCCCCCCCTCCCCCCCTC	DEFB106A	ENSG00000186579.3	transcript	ENST00000335186.3	protein_coding		488		chr8	TogoVar
DEFB107A_chr8_7806720_7820716	7815247	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0037 a0002c0002t0001g0037	1	5	0.2000	17	c.70+ others(30): Show c.70+295_70+311dupTTTTTTTTTTTTTTTTT	DEFB107A	ENSG00000186572.2	transcript	ENST00000335021.2	protein_coding	1/1			chr8	TogoVar
DEFB116_chr20_31298212_31313585	31298455	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01258.hp2 HG03490.hp1 others(8): Show HG00423.hp2 HG01258.hp2 HG03490.hp1 HG04204.hp2 NA18950.hp2 NA19003.hp1 NA19062.hp1 NA19075.hp2 NA19081.hp1 NA19086.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019	11	45	0.2444	17	c.47 others(28): Show c.4756_*4757insTTTTTTTTTTTTTTTTT	DEFB116	ENSG00000215545.1	transcript	ENST00000400549.1	protein_coding		4756		chr20	TogoVar
DEFB121_chr20_31399845_31411215	31410855	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	367	0.0027	17	c.-47 others(28): Show c.-4704_-4703insCTCTCTCTCTCTCTCTC	DEFB121	ENSG00000204548.4	transcript	ENST00000376314.3	protein_coding		4641		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31460620	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01496.hp1 HG02818.hp1 others(8): Show HG00408.hp2 HG01496.hp1 HG02818.hp1 HG02976.hp1 HG04204.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18973.hp1 NA19240.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0060 others(6): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0098 a0001c0001t0002g0107 a0001c0001t0002g0114 a0001c0001t0002g0126	11	187	0.0588	17	c.48 others(28): Show c.4885_*4886insTTTTTTTTTTTTTTTTT	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding		4850		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31466623	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	359	0.0028	17	c.59- others(30): Show c.59-961_59-960insATATATATATATATATA	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DEFB134_chr8_11988174_12005752	11995958	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03579.hp2 HG03041.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	2	286	0.0070	17	c.58+ others(30): Show c.58+235_58+236insTTTTTTTTTTTTTTTTT	DEFB134	ENSG00000205882.9	transcript	ENST00000382205.6	protein_coding	2/2			chr8	TogoVar
DEGS2_chr14_100138957_100164645	100161952	C C	CCCAGGAG others(10): Show CCCAGGAGTCAGGAGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG00735.hp1 others(53): Show HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01175.hp1 HG01346.hp2 HG01358.hp1 HG01884.hp2 HG01891.hp1 HG02015.hp1 HG02109.hp1 HG02145.hp1 HG02155.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG04204.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18959.hp2 NA18977.hp1 NA18982.hp2 NA18993.hp1 NA19043.hp1 NA19082.hp2 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0011 others(1): Show a0001c0001 a0001c0003 a0001c0011 a0001c0012	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(15): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0028 a0001c0001t0035 a0001c0001t0038 a0001c0001t0049 a0001c0003t0003 a0001c0003t0004 a0001c0003t0010 a0001c0003t0019 a0001c0003t0020 a0001c0003t0040 a0001c0003t0044 a0001c0003t0045 a0001c0011t0003 a0001c0012t0003	a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0030 others(41): Show a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0125 a0001c0001t0006g0043 a0001c0001t0006g0122 a0001c0001t0006g0123 a0001c0001t0006g0124 a0001c0001t0006g0128 a0001c0001t0011g0137 a0001c0001t0013g0252 a0001c0001t0028g0127 a0001c0001t0035g0064 a0001c0001t0038g0126 a0001c0001t0049g0063 a0001c0003t0003g0019 a0001c0003t0003g0020 a0001c0003t0003g0041 a0001c0003t0003g0062 a0001c0003t0003g0097 a0001c0003t0003g0102 a0001c0003t0003g0107 a0001c0003t0003g0109 a0001c0003t0003g0111 a0001c0003t0003g0142 a0001c0003t0004g0096 a0001c0003t0004g0114 a0001c0003t0010g0054 a0001c0003t0010g0092 a0001c0003t0010g0101 a0001c0003t0010g0103 a0001c0003t0019g0066 a0001c0003t0020g0098 a0001c0003t0020g0106 a0001c0003t0040g0110 a0001c0003t0044g0113 a0001c0003t0045g0068 a0001c0011t0003g0112 a0001c0012t0003g0104	56	438	0.1279	17	c.-23 others(28): Show c.-2366_-2365insAGCCTCCTGACTCCTGG	DEGS2	ENSG00000168350.8	transcript	ENST00000305631.7	protein_coding		2308		chr14	TogoVar
DENND10_chr10_119099113_119142984	119115382	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18967.hp1 NA18969.hp1 others(1): Show HG03942.hp1 NA18967.hp1 NA18969.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0127 a0001c0001t0001g0143 a0001c0001t0004g0029 others(1): Show a0001c0001t0001g0127 a0001c0001t0001g0143 a0001c0001t0004g0029 a0001c0001t0004g0035	4	27	0.1481	17	c.333 others(34): Show c.333-2130_333-2114dupTTTTTTTTTTTTTTTTT	DENND10	ENSG00000119979.18	transcript	ENST00000361432.3	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
DENND10_chr10_119099113_119142984	119135791	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	4	0.2500	17	c.898 others(32): Show c.898-671_898-655dupAAAAAAAAAAAAAAAAA	DENND10	ENSG00000119979.18	transcript	ENST00000361432.3	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
DENND1A_chr9_123374658_123935126	123378798	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	1	88	0.0114	17	c.26 others(28): Show c.2633_*2634insAAAAAAAAAAAAAAAAA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding		859		chr9	TogoVar
DENND1A_chr9_123374658_123935126	123516884	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0023 a0003c0011t0001g0023	1	2	0.5000	17	c.993 others(36): Show c.993+40669_993+40685dupTTTTTTTTTTTTTTTTT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123728479	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG03225.hp1 HG01070.hp1 HG03225.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0011 a0001c0001 a0003c0011	a0001c0001t0001 a0003c0011t0001 a0001c0001t0001 a0003c0011t0001	a0001c0001t0001g0126 a0003c0011t0001g0023 a0001c0001t0001g0126 a0003c0011t0001g0023	2	29	0.0690	17	c.302 others(36): Show c.302+29207_302+29223dupTTTTTTTTTTTTTTTTT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123779872	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01109.hp1 HG01167.hp1 others(12): Show HG01069.hp1 HG01109.hp1 HG01167.hp1 HG01884.hp2 HG02109.hp1 HG02273.hp2 HG02280.hp2 HG02602.hp1 HG02818.hp2 HG02922.hp2 HG02976.hp2 HG03704.hp2 NA18522.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0003t0001 a0001c0003t0003 a0001c0003t0010	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0002g0155 others(12): Show a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0002g0155 a0001c0001t0003g0045 a0001c0001t0003g0138 a0001c0001t0003g0143 a0001c0001t0003g0152 a0001c0001t0004g0156 a0001c0001t0013g0139 a0001c0003t0001g0146 a0001c0003t0001g0148 a0001c0003t0003g0145 a0001c0003t0010g0147 a0001c0003t0010g0151 a0001c0003t0010g0153	15	80	0.1875	17	c.133 others(36): Show c.133-10310_133-10309insAAAAAAAAAAAAAAAAA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	3/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123845670	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG06807.hp1 HG04228.hp2 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0001 a0001c0005t0005 a0001c0004t0001 a0001c0005t0005	a0001c0004t0001g0110 a0001c0005t0005g0123 a0001c0004t0001g0110 a0001c0005t0005g0123	2	61	0.0328	17	c.88+ others(34): Show c.88+33264_88+33280dupTTTTTTTTTTTTTTTTT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	2/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123903331	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	51	0.0196	17	c.18- others(34): Show c.18-24327_18-24311dupTTTTTTTTTTTTTTTTT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	1/23			chr9	TogoVar
DENND2A_chr7_140513420_140645813	140534081	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03834.hp1 NA18952.hp2 HG02486.hp1 HG03834.hp1 NA18952.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0021 a0002c0002 a0005c0021	a0002c0002t0001 a0002c0002t0002 a0005c0021t0003 a0002c0002t0001 a0002c0002t0002 a0005c0021t0003	a0002c0002t0001g0085 a0002c0002t0002g0103 a0005c0021t0003g0117 a0002c0002t0001g0085 a0002c0002t0002g0103 a0005c0021t0003g0117	3	16	0.1875	17	c.232 others(36): Show c.2328-6603_2328-6587dupAAAAAAAAAAAAAAAAA	DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	14/19			chr7	TogoVar
DENND2A_chr7_140513420_140645813	140557531	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG04228.hp1 NA20752.hp1 HG01433.hp1 HG04228.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0001g0236 a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0001g0236	3	140	0.0214	17	c.195 others(34): Show c.1959+611_1959+612insATATATATATATATATA	DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	11/19			chr7	TogoVar
DENND2A_chr7_140513420_140645813	140557531	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00673.hp1 HG00741.hp2 others(7): Show HG00140.hp1 HG00673.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG03130.hp2 HG03490.hp1 NA18906.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0006 a0004c0008 a0001c0001 a0003c0006 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0003c0006t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0006t0003 a0004c0008t0001	a0001c0001t0001g0093 a0001c0001t0001g0154 a0001c0001t0001g0164 others(7): Show a0001c0001t0001g0093 a0001c0001t0001g0154 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0253 a0001c0001t0002g0162 a0003c0006t0003g0088 a0004c0008t0001g0048	10	147	0.0680	17	c.195 others(34): Show c.1959+611_1959+612insAAATATATATATATATA	DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	11/19			chr7	TogoVar
DENND2A_chr7_140513420_140645813	140557531	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03669.hp1 NA20752.hp2 HG01891.hp2 HG03669.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0089 a0001c0001t0001g0237 a0001c0001t0001g0052 a0001c0001t0001g0089 a0001c0001t0001g0237	3	140	0.0214	17	c.195 others(34): Show c.1959+611_1959+612insAAAAATATATATATATA	DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	11/19			chr7	TogoVar
DENND2A_chr7_140513420_140645813	140557531	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0030 a0003c0006t0002g0030	1	138	0.0072	17	c.195 others(34): Show c.1959+611_1959+612insAAAAAAATATATATATA	DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	11/19			chr7	TogoVar
DENND2B_chr11_8688352_8815674	8710794	C C	CACACACA others(10): Show CACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	348	0.0029	17	c.235 others(32): Show c.2352+50_2352+51insTGTGTGTGTGTGTGTGT	DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	11/19			chr11	TogoVar
DENND2B_chr11_8688352_8815674	8718092	A A	AGCCCACC others(10): Show AGCCCACCCCCCCACCCC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19010.hp1 NA19060.hp1 NA18953.hp1 NA19010.hp1 NA19060.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0186 a0002c0003t0001g0270 a0002c0003t0001g0277 a0002c0003t0001g0186 a0002c0003t0001g0270 a0002c0003t0001g0277	3	335	0.0090	17	c.147 others(34): Show c.1478-201_1478-200insGGGGTGGGGGGGTGGGC	DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	4/19			chr11	TogoVar
DENND2D_chr1_111180969_111205646	111190169	A A	AACAAAAC others(10): Show AACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0206 a0001c0001t0009g0206	1	470	0.0021	17	c.973 others(32): Show c.973-917_973-916insGTTTTGTTTTGTTTTGT	DENND2D	ENSG00000162777.17	transcript	ENST00000357640.9	protein_coding	8/11			chr1	TogoVar
DENND2D_chr1_111180969_111205646	111190174	A A	AAAAAAAC others(10): Show AAAAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	346	0.0029	17	c.973 others(32): Show c.973-922_973-921insGTTTTGTTTTGTTTTTT	DENND2D	ENSG00000162777.17	transcript	ENST00000357640.9	protein_coding	8/11			chr1	TogoVar
DENND2D_chr1_111180969_111205646	111190174	A A	AACAAAAC others(10): Show AACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00609.hp2 others(116): Show HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02148.hp1 HG02155.hp1 HG02273.hp1 HG02300.hp2 HG02523.hp2 HG02615.hp1 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG03017.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18981.hp1 NA18985.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA18997.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19006.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19072.hp2 NA19075.hp2 NA19077.hp1 NA19082.hp2 NA19085.hp2 NA19087.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0004c0005 a0005c0006 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0002t0001 a0001c0009t0014 a0004c0005t0001 a0005c0006t0001 a0006c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(47): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0002g0036 a0001c0001t0002g0182 a0001c0001t0003g0124 a0001c0001t0003g0181 a0001c0001t0005g0037 a0001c0001t0005g0096 a0001c0001t0011g0126 a0001c0001t0016g0190 a0001c0001t0017g0138 a0001c0002t0001g0025 a0001c0002t0001g0125 a0001c0002t0001g0176 a0001c0009t0014g0163 a0004c0005t0001g0059 a0005c0006t0001g0227 a0006c0012t0001g0203	119	464	0.2565	17	c.973 others(32): Show c.973-922_973-921insGTTTTGTTTTGTTTTGT	DENND2D	ENSG00000162777.17	transcript	ENST00000357640.9	protein_coding	8/11			chr1	TogoVar

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