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
DIPK1A_chr1_92837167_92966462	92846825	A A	ATACACAC others(45): Show ATACACACGTATATATATATATATATACACACGTATATATATATATACAC ACG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	200	0.0050	52	c.474 others(67): Show c.474+357_474+358insCGTGTGTATATATATATATACGTGTGTATA TATATATATATATACGTGTGTA	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	4/4			chr1	TogoVar
DIPK1A_chr1_92837167_92966462	92846848	T T	TATATATA others(45): Show TATATATACACACACGTATATATATATATACACACACGTATATATATATA TAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0089	1	200	0.0050	52	c.474 others(67): Show c.474+334_474+335insGTATATATATATATACGTGTGTGTATATAT ATATATACGTGTGTGTATATAT	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	4/4			chr1	TogoVar
DIPK1A_chr1_92837167_92966462	92948643	A A	ATATATAT others(45): Show ATATATATACGTATATATACATATGTGTATATATACGTATATATACATAT GTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01099.hp1 others(15): Show HG00140.hp1 HG00280.hp1 HG01099.hp1 HG02280.hp1 HG03041.hp1 HG03098.hp1 HG03209.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG06807.hp1 NA18962.hp1 NA18970.hp1 NA19030.hp1 NA19043.hp1 NA19077.hp2 NA19087.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 a0001c0007t0002	a0001c0001t0001g0093 a0001c0001t0002g0086 a0001c0001t0002g0087 others(15): Show a0001c0001t0001g0093 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0003g0149 a0001c0001t0004g0085 a0001c0001t0005g0094 a0001c0001t0005g0097 a0001c0001t0005g0102 a0001c0001t0006g0095 a0001c0001t0006g0096 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0007t0002g0068	18	200	0.0900	52	c.54+ others(69): Show c.54+12732_54+12733insCACATATGTATATATACGTATATATACA CATATGTATATATACGTATATATA	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	1/4			chr1	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(45): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0145 a0001c0003t0004g0145	1	400	0.0025	52	c.558 others(67): Show c.558+251_558+252insAAAAAAAAAAAAAAAATATATATATATATA TATATATATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DISP1_chr1_222810039_223010995	222936835	A A	ATATATCA others(45): Show ATATATCATATATATGATATATAATTTATATATCATATATATGATATATA ATT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp2 HG01168.hp1 others(6): Show HG00741.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01256.hp1 HG02080.hp1 HG03669.hp2 HG03942.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0001 a0001c0002t0001 a0001c0006t0001	a0001c0002t0001g0077 a0001c0002t0001g0220 a0001c0002t0001g0221 others(6): Show a0001c0002t0001g0077 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0285 a0001c0006t0001g0219	9	348	0.0259	52	c.-17 others(69): Show c.-17-5967_-17-5966insCATATATATGATATATAATTTATATATC ATATATATGATATATAATTTATAT	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(45): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATA TAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0077 a0001c0003t0077	a0001c0003t0077g0003 a0001c0003t0077g0003	1	396	0.0025	52	c.36 others(63): Show c.3697_*3698insAAAAAAAAAAAAAAAAAAAATATATATATATATA TATATATATATATATATA	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	8/8	3698	INFO_REALIGN_3_PRIME	chr15	TogoVar
DLC1_chr8_13078361_13519851	13405917	T T	TTTTCTTT others(45): Show TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTTCTTTTCTTTCT TTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0010 a0010	a0010c0048 a0010c0048	a0010c0048t0007 a0010c0048t0007	a0010c0048t0007g0185 a0010c0048t0007g0185	1	212	0.0047	52	c.102 others(71): Show c.1024-4299_1024-4298insGAAAGAAAGAAAAGAAAAGAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLGAP1_chr18_3491032_4460307	3600715	G G	GATATCTG others(45): Show GATATCTGTAGCTATATAGATATAGAGATATATATCTATATAGATATATA GAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02622.hp2 HG03486.hp1 others(3): Show HG02572.hp2 HG02622.hp2 HG03486.hp1 HG03579.hp2 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0018 a0001c0002t0029 others(3): Show a0001c0001t0002 a0001c0001t0018 a0001c0002t0029 a0001c0003t0015 a0001c0003t0033 a0001c0004t0014	a0001c0001t0002g0017 a0001c0001t0018g0046 a0001c0002t0029g0032 others(3): Show a0001c0001t0002g0017 a0001c0001t0018g0046 a0001c0002t0029g0032 a0001c0003t0015g0078 a0001c0003t0033g0077 a0001c0004t0014g0058	6	80	0.0750	52	c.159 others(73): Show c.1592-18468_1592-18467insATCTATATATCTATATAGATATAT ATCTCTATATCTATATAGCTACAGATAT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3600877	T T	TATAGATA others(45): Show TATAGATATATATAGATATATAGATAGATATATATAGATATATAGATATA TAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	80	0.0125	52	c.159 others(73): Show c.1592-18630_1592-18629insCTATATATCTATATATCTATATAT ATCTATCTATATATCTATATATATCTAT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4265103	T T	TTTCCTTC others(45): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0037 a0001c0002t0008g0037	1	80	0.0125	52	c.-26 others(75): Show c.-266-113817_-266-113816insGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	1/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4265663	C C	CCCTCCCT others(45): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0056 a0001c0001t0039g0056	1	80	0.0125	52	c.-26 others(75): Show c.-266-114377_-266-114376insAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGGAGGGAGGGAGGGAGG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	1/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	999891	A A	AGGATTTT others(45): Show AGGATTTTCTCTAGAGCAGACAGATCCGGGTGGAGGTGGTTTTCTTTTGC ACT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	40	0.0250	52	c.73+ others(69): Show c.73+92049_73+92100dupCAGATCCGGGTGGAGGTGGTTTTCTTTT GCACTGGATTTTCTCTAGAGCAGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1000183	G G	GAGGTGGT others(45): Show GAGGTGGTTTTCTTTTGCAGTGGATTTTCTCTAGAGCAGACAGATCCGGG TGC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02698.hp2 HG02818.hp2 others(2): Show HG01496.hp1 HG02698.hp2 HG02818.hp2 HG02895.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0002c0009 others(1): Show a0001c0003 a0002c0004 a0002c0009 a0002c0010	a0001c0003t0013 a0002c0004t0003 a0002c0004t0018 others(2): Show a0001c0003t0013 a0002c0004t0003 a0002c0004t0018 a0002c0009t0021 a0002c0010t0008	a0001c0003t0013g0007 a0002c0004t0003g0009 a0002c0004t0018g0010 others(2): Show a0001c0003t0013g0007 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0009t0021g0014 a0002c0010t0008g0040	5	40	0.1250	52	c.73+ others(69): Show c.73+92235_73+92236insGTGGATTTTCTCTAGAGCAGACAGATCC GGGTGCAGGTGGTTTTCTTTTGCA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1417122	A A	ATTCATTT others(45): Show ATTCATTTAGCGTCTGAGGGTGGGAAGACCGTCTGAGGCGGGGGAGACCC CCG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0038 a0003c0007t0007g0038	1	40	0.0250	52	c.107 others(71): Show c.107-84226_107-84225insGTGGGAAGACCGTCTGAGGCGGGGGA GACCCCCGTTCATTTAGCGTCTGAGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	31293163	G G	GGTGTGTG others(45): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0022 a0010c0013t0022	a0010c0013t0022g0066 a0010c0013t0022g0066	1	126	0.0079	52	c.922 others(73): Show c.9224+30434_9224+30435insACACACACACACACACACACACAC ACACACACACACACACACACACACACAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTCT others(45): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	126	0.0079	52	c.821 others(73): Show c.8218-14911_8218-14910insTATATATATATATATATATAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31951119	A A	ATATATAC others(45): Show ATATATACATATATATATATATATATATATATATATATATGTATATATAT ATG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0023 a0003c0008t0023	a0003c0008t0023g0005 a0003c0008t0023g0005	1	126	0.0079	52	c.661 others(73): Show c.6614+17219_6614+17220insCATATATATATACATATATATATA TATATATATATATATATATATGTATATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	45/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32252707	A A	AATATATA others(45): Show AATATATATATAAATATATATAAATATATAAATATATATAAATATATAAA TAT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0012 a0001c0001t0013g0012	1	126	0.0079	52	c.629 others(73): Show c.6290+34821_6290+34822insATATTTATATATTTATATATATTT ATATATTTATATATATTTATATATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	43/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32335897	T T	TGTATATA others(45): Show TGTATATATGTATAACATGTTATATATAACATGTTGTATATATGTATAAC ATG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18983.hp1 NA19012.hp1 NA18944.hp1 NA18983.hp1 NA19012.hp1	a0001 a0006 a0029 a0001 a0006 a0029	a0001c0002 a0006c0006 a0029c0042 a0001c0002 a0006c0006 a0029c0042	a0001c0002t0001 a0006c0006t0001 a0029c0042t0024 a0001c0002t0001 a0006c0006t0001 a0029c0042t0024	a0001c0002t0001g0074 a0006c0006t0001g0001 a0029c0042t0024g0070 a0001c0002t0001g0074 a0006c0006t0001g0001 a0029c0042t0024g0070	3	126	0.0238	52	c.592 others(71): Show c.5922+6202_5922+6203insCATGTTATACATATATACAACATGTT ATATATAACATGTTATACATATATAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78			chrX	TogoVar
DNAAF5_chr7_721699_791475	746383	C C	CAGGGCCT others(45): Show CAGGGCCTGTGACGCCCTCCTTACCGTCCTGCTGCCCCCCGCCCGTCATG CCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03098.hp2 HG03130.hp1 others(2): Show HG02723.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp2 NA19087.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0001c0001t0006 a0003c0003t0001 a0001c0001t0004 a0001c0001t0006 a0003c0003t0001	a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 others(2): Show a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0006g0097 a0003c0003t0001g0192	5	378	0.0132	52	c.102 others(71): Show c.1024+4957_1024+4958insGCCCGTCATGCCTAGGGCCTGTGACG CCCTCCTTACCGTCCTGCTGCCCCCC	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAAF5_chr7_721699_791475	746441	C C	CTGTGACG others(45): Show CTGTGACGCCCTCCTTACCGTCCTGCTGCCCCCCACCCAACATGCCCAGG GTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0118 a0003c0003t0007g0118	1	378	0.0027	52	c.102 others(71): Show c.1024+5002_1024+5053dupTGCCCCCCACCCAACATGCCCAGGGT TTGTGACGCCCTCCTTACCGTCCTGC	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAAF6_chrX_107201611_107249247	107204693	T T	TTTATTTA others(45): Show TTTATTTAAATAAATTTTAAATAAATTATTTATTTAAATAAATTTTAAAT AAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA19001.hp2 NA19011.hp2 NA18990.hp1 NA19001.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0001 a0001c0001t0001g0025	3	296	0.0101	52	c.-20 others(63): Show c.-2001_-2000insTTATTTAAATAAATTTTAAATAAATTATTTATTT AAATAAATTTTAAATAAA	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding		1917		chrX	TogoVar
DNAAF6_chrX_107201611_107249247	107204745	A A	ATTATTTA others(45): Show ATTATTTATTTAAATAAATTTTAAATAAATTATTTAAATAAATTTTAAAT AAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01981.hp2 HG02683.hp1 others(2): Show HG01256.hp1 HG01981.hp2 HG02683.hp1 HG02735.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0043 a0001c0001t0001g0046 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0094 a0001c0001t0001g0104	5	296	0.0169	52	c.-19 others(63): Show c.-1949_-1948insTTATTTATTTAAATAAATTTTAAATAAATTATTT AAATAAATTTTAAATAAA	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding		1865		chrX	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTGTGT others(45): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0126 a0002c0002t0001g0126	1	266	0.0038	52	c.730 others(71): Show c.7305+2049_7305+2050insTATATATATATATATATATATATATA TATATATACACACACACACACACACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTGTGT others(45): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0169 a0002c0002t0001g0169	1	266	0.0038	52	c.730 others(71): Show c.7305+2049_7305+2050insTATATATATATATATATATATATATA TATACACACACACACACACACACACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH17_chr17_78418697_78582396	78541087	C C	CGGGGTGC others(45): Show CGGGGTGCGGGGGTGAGCGGGGTGCGGGGGTGAGCGGGGTGCGGGGGTGA GCG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0120 a0120	a0120c0095 a0120c0095	a0120c0095t0001 a0120c0095t0001	a0120c0095t0001g0084 a0120c0095t0001g0084	1	252	0.0040	52	c.253 others(71): Show c.2533-1208_2533-1207insCGCTCACCCCCGCACCCCGCTCACCC CCGCACCCCGCTCACCCCCGCACCCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH3_chr16_20928111_21155846	20980260	T T	TTATAATA others(45): Show TTATAATATACATCATATATTATAATATACATCATATATTATAATATACA TCA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0101 a0001c0101	a0001c0101t0001 a0001c0101t0001	a0001c0101t0001g0073 a0001c0101t0001g0073	1	234	0.0043	52	c.772 others(69): Show c.7722-715_7722-714insTGATGTATATTATAATATATGATGTATA TTATAATATATGATGTATATTATA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	49/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21067772	G G	GGGGGGAG others(45): Show GGGGGGAGGGAGGGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	234	0.0043	52	c.324 others(69): Show c.3244-354_3244-353insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCCCTCTCCCTCCCTCCCCC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21067772	G G	GGGGGGGG others(45): Show GGGGGGGGAGGGAGGGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02132.hp1 NA19091.hp1 HG02080.hp2 HG02132.hp1 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0027 a0001c0001 a0004c0027	a0001c0001t0001 a0004c0027t0001 a0001c0001t0001 a0004c0027t0001	a0001c0001t0001g0205 a0001c0001t0001g0212 a0004c0027t0001g0188 a0001c0001t0001g0205 a0001c0001t0001g0212 a0004c0027t0001g0188	3	234	0.0128	52	c.324 others(69): Show c.3244-354_3244-353insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCCCTCTCCCTCCCTCCCCCCC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61			chr16	TogoVar
DNAI7_chr12_25103289_25200160	25120317	G G	GGAGAGAG others(45): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	336	0.0030	52	c.124 others(71): Show c.1240-1017_1240-1016insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTC	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	11/15			chr12	TogoVar
DNAJA3_chr16_4420868_4461775	4461546	A A	AAGGACAC others(45): Show AAGGACACCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCTCCCC CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	345	0.0029	52	c.60 others(63): Show c.6014_*6015insAGGACACCCCCCCCCCCCCCCACCCCCCCCCCCC CCCCCCCCCCTCCCCCCC	DNAJA3	ENSG00000103423.14	transcript	ENST00000262375.11	protein_coding		4772		chr16	TogoVar
DNAJC13_chr3_132412502_132544032	132471011	C C	CGGGGGGC others(45): Show CGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGT CGG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0236 a0001c0003t0003g0236	1	318	0.0031	52	c.220 others(71): Show c.2209-2132_2209-2131insGGGGCTGACCCCCCCCACCTCCCTCC CGGATGGCACGGCTGGCCGGTCGGGG	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	20/55		INFO_REALIGN_3_PRIME	chr3	TogoVar
DNAJC25_chr9_111626334_111659345	111641242	C C	CGCCCGGC others(45): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCC CCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG04199.hp1 NA18953.hp2 others(4): Show HG02071.hp2 HG04199.hp1 NA18953.hp2 NA18977.hp2 NA18994.hp2 NA18995.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 others(4): Show a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0002g0230	7	412	0.0170	52	c.337 others(69): Show c.337-5865_337-5864insGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGGGTCAGCCCCCCT	DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3			chr9	TogoVar
DNAJC4_chr11_64225548_64239281	64237109	G G	GAGAGAGA others(45): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAGAGAGAGAG AGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	338	0.0030	52	c.29 others(63): Show c.2925_*2926insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAAGAGAGAGAGAGAGA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2829		chr11	TogoVar
DNAJC5_chr20_63890126_63941011	63929731	C C	CGGGCACC others(45): Show CGGGCACCCGAGTCTCTCCTGCCGTGCGGGCACCTGAGTCTCTCCTGCCA TGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0307 a0001c0001t0026g0307	1	372	0.0027	52	c.321 others(67): Show c.321+228_321+229insGTGCGGGCACCTGAGTCTCTCCTGCCATGA GGGCACCCGAGTCTCTCCTGCC	DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
DNAJC5_chr20_63890126_63941011	63929731	C C	CGGGCGCC others(45): Show CGGGCGCCCGAGTCTCTCCTGCCGTGCGGGCACCCGAGTCTCTCCTGCCA TGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG01074.hp1 others(5): Show HG00280.hp2 HG00621.hp1 HG01074.hp1 HG02486.hp1 HG02717.hp1 HG03041.hp2 NA19009.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0023 others(1): Show a0001c0001t0008 a0001c0001t0013 a0001c0001t0023 a0001c0001t0027	a0001c0001t0008g0292 a0001c0001t0008g0295 a0001c0001t0008g0296 others(5): Show a0001c0001t0008g0292 a0001c0001t0008g0295 a0001c0001t0008g0296 a0001c0001t0013g0265 a0001c0001t0013g0266 a0001c0001t0013g0267 a0001c0001t0023g0263 a0001c0001t0027g0264	8	372	0.0215	52	c.321 others(67): Show c.321+210_321+211insGCCCGAGTCTCTCCTGCCGTGCGGGCACCC GAGTCTCTCCTGCCATGAGGGC	DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
DNAJC5_chr20_63890126_63941011	63929731	C C	CGGGCGCC others(45): Show CGGGCGCCCGAGTCTCTCCTGCCGTGCGGGCGCCCGAGTCTCTCCTGCCA TGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0297 a0001c0001t0054g0297	1	372	0.0027	52	c.321 others(67): Show c.321+210_321+211insGCCCGAGTCTCTCCTGCCGTGCGGGCGCCC GAGTCTCTCCTGCCATGAGGGC	DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
DNAJC5_chr20_63890126_63941011	63929731	C C	CGGGCGCC others(45): Show CGGGCGCCCGAGTCTCTCCTGCCGTGCGGGCGCCCGAGTCTCTCCTGCCG TGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0294 a0001c0001t0008g0294	1	372	0.0027	52	c.321 others(67): Show c.321+210_321+211insGCCCGAGTCTCTCCTGCCGTGCGGGCGCCC GAGTCTCTCCTGCCGTGAGGGC	DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
DNAJC5_chr20_63890126_63941011	63929765	C C	CGAGTCTC others(45): Show CGAGTCTCTCCTGCCATGTGGGCACCCGAGTCACTCCTGCCGTGCGGGCA CCT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0080 a0001c0001t0055g0080	1	372	0.0027	52	c.321 others(67): Show c.321+241_321+242insAGTCTCTCCTGCCATGTGGGCACCCGAGTC ACTCCTGCCGTGCGGGCACCTG	DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
DNER_chr2_229352629_229719555	229554938	A A	AAGAGAAG others(45): Show AAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAGAAA AGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	176	0.0057	52	c.848 others(69): Show c.848-7847_848-7846insCCTTTTCTCTCTTCTCTTCTCTTCTCTT CTCTTCTCTTCTCTTCTCTTCTCT	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	4/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229596912	T T	TATGCACA others(45): Show TATGCACACACATGCACACGCACATGCACATGCATGCACATGCACGCATA TAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	176	0.0057	52	c.277 others(69): Show c.277-5076_277-5025dupGTATATGCGTGCATGTGCATGCATGTGC ATGTGCGTGTGCATGTGTGTGCAT	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	1/12			chr2	TogoVar
DOC2B_chr17_137789_186650	141510	A A	ATGGGGAG others(45): Show ATGGGGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGG ACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG01167.hp1 HG00280.hp2 HG00733.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0267 a0001c0002t0016g0268 a0001c0002t0016g0269 a0001c0002t0016g0267 a0001c0002t0016g0268 a0001c0002t0016g0269	3	339	0.0089	52	c.59 others(63): Show c.5930_*5931insGGTCCTCCTCACCAGGTCCCCTCACCAAGGTCCC CCCCATGTCCCCTCCCCA	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		1278		chr17	TogoVar
DOCK11_chrX_118490815_118691147	118516004	A A	AATATATA others(45): Show AATATATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01168.hp1 HG00609.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0175 a0001c0002t0001g0144 a0001c0001t0001g0175 a0001c0002t0001g0144	2	211	0.0095	52	c.102 others(71): Show c.102+19946_102+19947insTATATATATATATATATATATATATA TATATATATATATATATATATATATA	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
DOCK11_chrX_118490815_118691147	118516004	A A	ACTATATA others(45): Show ACTATATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19240.hp1 HG02622.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0096 a0001c0001t0004g0193 a0001c0001t0001g0096 a0001c0001t0004g0193	2	211	0.0095	52	c.102 others(71): Show c.102+19931_102+19932insCTATATATATATATATATATATATAT ATATATATATATATATATATATATAT	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	1/52			chrX	TogoVar
DOCK11_chrX_118490815_118691147	118516018	T T	TATATATA others(45): Show TATATATATATATATATATATATATATATATATATATATACATACACACA CAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	211	0.0047	52	c.102 others(71): Show c.102+19946_102+19947insTATATATATATATATATATATATATA TATATATATATACATACACACACACA	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
DOCK1_chr10_126900428_127457516	127093198	T T	TTTTCTTT others(45): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03130.hp2 HG03540.hp2 others(1): Show HG01884.hp2 HG03130.hp2 HG03540.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0001c0025 a0001c0037 others(1): Show a0001c0004 a0001c0025 a0001c0037 a0004c0071	a0001c0004t0002 a0001c0025t0002 a0001c0037t0002 others(1): Show a0001c0004t0002 a0001c0025t0002 a0001c0037t0002 a0004c0071t0003	a0001c0004t0002g0122 a0001c0025t0002g0025 a0001c0037t0002g0117 others(1): Show a0001c0004t0002g0122 a0001c0025t0002g0025 a0001c0037t0002g0117 a0004c0071t0003g0114	4	136	0.0294	52	c.244 others(73): Show c.2446-13010_2446-13009insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	23/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK3_chr3_50669927_51389198	50886208	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	212	0.0047	52	c.163 others(69): Show c.163-3817_163-3816insATATATATATATATATATATATATATAT ATATATATATATATATATATATGT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK4_chr7_111721110_112211399	111933121	T T	TATATACG others(45): Show TATATACGTATATACACATATATACGTATATACACATATATACGTATATA CAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	106	0.0094	52	c.106 others(71): Show c.1066+2418_1066+2419insGTGTATATACGTATATATGTGTATAT ACGTATATATGTGTATATACGTATAT	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	12/52			chr7	TogoVar
DOCK5_chr8_25179689_25420711	25216570	T T	TATATGTA others(45): Show TATATGTATACAATATGTGTATACAATATATATGTATACAATATGTGTAT ACA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0015 a0015	a0015c0033 a0015c0033	a0015c0033t0003 a0015c0033t0003	a0015c0033t0003g0162 a0015c0033t0003g0162	1	210	0.0048	52	c.44- others(69): Show c.44-27104_44-27103insATATGTATACAATATGTGTATACAATAT ATATGTATACAATATGTGTATACA	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51			chr8	TogoVar
DOCK5_chr8_25179689_25420711	25216698	T T	TATATGTA others(45): Show TATATGTATACAATATGTGTATACAATATATATGTATACAATATGTGTAT ACA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01516.hp2 HG00639.hp2 HG01516.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0013 a0001c0005 a0002c0013	a0001c0005t0001 a0002c0013t0003 a0001c0005t0001 a0002c0013t0003	a0001c0005t0001g0157 a0002c0013t0003g0158 a0001c0005t0001g0157 a0002c0013t0003g0158	2	210	0.0095	52	c.44- others(69): Show c.44-26976_44-26975insATATGTATACAATATGTGTATACAATAT ATATGTATACAATATGTGTATACA	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51			chr8	TogoVar

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