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
DUSP16_chr12_12468282_12567863	12560946	T T	TCACACAC others(21): Show TCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA20805.hp1 HG02622.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0053 a0001c0001t0008 a0001c0001t0053	a0001c0001t0008g0277 a0001c0001t0053g0276 a0001c0001t0008g0277 a0001c0001t0053g0276	2	188	0.0106	28	c.-36 others(47): Show c.-366+1170_-366+1171insTGTGTGTGTGTGTGTGTGTGTGTGTG TG	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	1/6			chr12	TogoVar
DUSP16_chr12_12468282_12567863	12560946	T T	TCACACAC others(21): Show TCACACACCCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03139.hp2 HG02723.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0266 a0001c0001t0015g0267 a0001c0001t0015g0266 a0001c0001t0015g0267	2	188	0.0106	28	c.-36 others(47): Show c.-366+1170_-366+1171insTGTGTGTGTGTGTGTGTGTGGGTGTG TG	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	1/6			chr12	TogoVar
DUSP22_chr6_287487_356355	343658	T T	TGTGTGCA others(21): Show TGTGTGCATGTTTGCGTGTGCATGTTTGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02056.hp2 HG02129.hp2 others(7): Show HG00438.hp1 HG02056.hp2 HG02129.hp2 HG02970.hp1 HG03041.hp2 NA18942.hp1 NA18959.hp1 NA18964.hp1 NA18968.hp1 NA18988.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0141 a0001c0002t0002g0142 others(5): Show a0001c0002t0002g0003 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0147 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0157 a0001c0002t0002g0172	10	180	0.0556	28	c.189 others(45): Show c.189-2181_189-2154dupGTGTGCATGTTTGCGTGTGCATGTTTGC	DUSP22	ENSG00000112679.15	transcript	ENST00000419235.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
DUSP26_chr8_33586330_33605023	33587567	T T	TTCTTTCT others(21): Show TTCTTTCTTTCTTTCTTTCTTTCTTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02647.hp1 HG02615.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0103 a0001c0001t0001g0035 a0001c0001t0001g0103	2	257	0.0078	28	c.44 others(39): Show c.4445_*4446insGAAAAAGAAAGAAAGAAAGAAAGAAAGA	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding		3762		chr8	TogoVar
DUSP26_chr8_33586330_33605023	33590730	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0117 a0001c0002t0003g0117	1	217	0.0046	28	c.12 others(39): Show c.1282_*1283insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding		599		chr8	TogoVar
DUSP26_chr8_33586330_33605023	33597882	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02615.hp2 HG02965.hp2 others(8): Show HG00408.hp1 HG02615.hp2 HG02965.hp2 HG03139.hp2 HG03453.hp2 HG03486.hp2 HG03669.hp1 HG04228.hp1 NA19012.hp2 NA19055.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0102 others(6): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0011g0109	11	143	0.0769	28	c.-76 others(43): Show c.-76-319_-76-292dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding	1/3			chr8	TogoVar
DUSP29_chr10_75032472_75078642	75074317	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0238 a0003c0003t0001g0238	1	192	0.0052	28	c.-78 others(37): Show c.-784_-783insATATATATATATATATATATATATATAT	DUSP29	ENSG00000188716.6	transcript	ENST00000338487.6	protein_coding		676		chr10	TogoVar
DUXA_chr19_57149021_57172485	57155646	A A	AAGATAGA others(21): Show AAGATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01069.hp2 HG01070.hp1 others(37): Show HG00408.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01123.hp1 HG01167.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG02015.hp1 HG02015.hp2 HG02083.hp1 HG02109.hp2 HG02257.hp1 HG02451.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG03225.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 NA18747.hp1 NA18946.hp1 NA18949.hp2 NA18962.hp2 NA18991.hp2 NA19009.hp2 NA19043.hp2 NA19080.hp1 NA19090.hp2 NA20300.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0003c0002t0001 a0001c0001t0001 a0001c0001t0002 a0003c0002t0001	a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0105 others(32): Show a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0105 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0139 a0001c0001t0001g0193 a0001c0001t0001g0218 a0001c0001t0001g0257 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0355 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0048 a0001c0001t0002g0056 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0123 a0001c0001t0002g0173 a0001c0001t0002g0188 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0224 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0285 a0001c0001t0002g0292 a0001c0001t0002g0335 a0001c0001t0002g0351 a0001c0001t0002g0356 a0001c0001t0002g0368 a0003c0002t0001g0233	40	109	0.3670	28	c.439 others(43): Show c.439-302_439-275dupATCTATCTATCTATCTATCTATCTATCT	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	4/5			chr19	TogoVar
DUXA_chr19_57149021_57172485	57165324	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	197	0.0051	28	c.25+ others(43): Show c.25+2094_25+2095insATATATATATATATATATATATATATAT	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5			chr19	TogoVar
DUXA_chr19_57149021_57172485	57172002	C C	CGAGGGGG others(21): Show CGAGGGGGGCGGGGGCCGCGAGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG03225.hp2 HG02622.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	359	0.0056	28	c.-45 others(39): Show c.-4560_-4559insCGCCCCCCTCGCGGCCCCCGCCCCCCTC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4518		chr19	TogoVar
DVL2_chr17_7220342_7239517	7233087	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0158 a0001c0003t0002g0158	1	176	0.0057	28	c.194 others(43): Show c.194+981_194+982insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DVL2	ENSG00000004975.12	transcript	ENST00000005340.10	protein_coding	1/14			chr17	TogoVar
DYM_chr18_49031387_49465645	49145134	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	106	0.0094	28	c.172 others(49): Show c.1728+18550_1728+18551insTTATATATATATATATATATATAT ATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	15/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49252216	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0268 a0001c0001t0005g0268	1	9	0.1111	28	c.146 others(47): Show c.1460+4793_1460+4794insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	13/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49317646	C C	CTCCTCTC others(21): Show CTCCTCTCCTCTCCTCTCCTCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01515.hp2 HG01517.hp2 others(1): Show HG01168.hp2 HG01515.hp2 HG01517.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0168 a0001c0001t0004g0190 a0001c0001t0006g0158 others(1): Show a0001c0001t0004g0168 a0001c0001t0004g0190 a0001c0001t0006g0158 a0001c0001t0006g0187	4	190	0.0211	28	c.763 others(47): Show c.763+14217_763+14218insAGGAAGGAGAGGAGAGGAGAGGAGAG GA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440655	A A	ATATATTA others(21): Show ATATATTATATATTTATATAATATATGAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0141 a0001c0001t0004g0141	1	288	0.0035	28	c.-53 others(47): Show c.-53-10236_-53-10209dupGTCATATATTATATAAATATATAATA TA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYNC1H1_chr14_101959573_102061443	102047637	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0008 a0001c0010t0008	a0001c0010t0008g0267 a0001c0010t0008g0267	1	261	0.0038	28	c.130 others(47): Show c.13007-179_13007-178insATATATATATATATATATATATATAT AT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047639	G G	GTACATAT others(21): Show GTACATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0264 a0001c0006t0007g0264	1	192	0.0052	28	c.130 others(47): Show c.13007-177_13007-176insACATATATATATATATATATATATAT AT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0222 a0001c0001t0012g0222	1	107	0.0093	28	c.130 others(47): Show c.13007-175_13007-174insGTATATATATATATATATATATATAT AT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTGTGT others(21): Show GTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18957.hp2 NA18977.hp2 HG00609.hp1 NA18957.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0046 a0001c0001t0002 a0001c0001t0024 a0001c0001t0046	a0001c0001t0002g0200 a0001c0001t0024g0226 a0001c0001t0046g0175 a0001c0001t0002g0200 a0001c0001t0024g0226 a0001c0001t0046g0175	3	109	0.0275	28	c.130 others(47): Show c.13007-175_13007-174insGTGTGTATATATATATATATATATAT AT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTGTGT others(21): Show GTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02622.hp2 HG02630.hp2 others(6): Show HG02273.hp1 HG02622.hp2 HG02630.hp2 HG02965.hp1 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0017 a0001c0001 a0001c0016 a0001c0017	a0001c0001t0002 a0001c0001t0003 a0001c0016t0003 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0016t0003 a0001c0017t0003	a0001c0001t0002g0214 a0001c0001t0003g0202 a0001c0001t0003g0203 others(6): Show a0001c0001t0002g0214 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0207 a0001c0001t0003g0229 a0001c0001t0003g0232 a0001c0016t0003g0221 a0001c0016t0003g0224 a0001c0017t0003g0231	9	115	0.0783	28	c.130 others(47): Show c.13007-175_13007-174insGTGTGTGTATATATATATATATATAT AT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1I1_chr7_95767554_96103424	95823952	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02145.hp1 HG02074.hp2 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0084 a0001c0004t0001g0069 a0001c0003t0001g0084 a0001c0004t0001g0069	2	44	0.0455	28	c.315 others(45): Show c.315-4078_315-4077insATATATATATATATATATATATATATAT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1LI1_chr3_32520974_32575858	32532485	G G	GTATATAT others(21): Show GTATATATATATGTATGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03579.hp1 HG02572.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0007 a0001c0004t0002 a0001c0004t0007	a0001c0004t0002g0040 a0001c0004t0007g0278 a0001c0004t0002g0040 a0001c0004t0007g0278	2	270	0.0074	28	c.108 others(45): Show c.1080+500_1080+501insTATATATATATACATACATATATATATA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12			chr3	TogoVar
DYNC2H1_chr11_103104426_103484863	103288684	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0020 a0002c0003t0001g0020	1	118	0.0085	28	c.110 others(49): Show c.11095+1105_11095+1106insAAAAAAAAAAAAAAAAAAAAAAAA AAAA	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	75/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2I1_chr7_158851558_158951189	158937622	G G	GAAAAAAA others(21): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02148.hp2 HG03704.hp1 others(1): Show HG01981.hp1 HG02148.hp2 HG03704.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0001 a0001c0022t0018 a0001c0001t0001 a0001c0022t0018	a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0273 others(1): Show a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0022t0018g0229	4	121	0.0331	28	c.277 others(47): Show c.2778+3086_2778+3087insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I2_chr9_128628653_128661847	128655335	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0283 a0001c0003t0001g0283	1	20	0.0500	28	c.186 others(45): Show c.186+1205_186+1206insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNLT1_chr6_158631474_158649743	158636051	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	342	0.0029	28	c.77 others(37): Show c.775_*776insTATATATATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		422		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02135.hp1 HG02132.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	2	186	0.0108	28	c.75 others(37): Show c.757_*758insAATATATATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	185	0.0054	28	c.75 others(37): Show c.757_*758insAAAAAATATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	185	0.0054	28	c.75 others(37): Show c.757_*758insAAAAAAAAAATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(21): Show ATATATATATATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	185	0.0054	28	c.75 others(37): Show c.757_*758insAAAAAAAAAAAAAAAAAATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT2B_chr3_196286219_196323240	196317389	T T	TGTGTGTG others(21): Show TGTGTGTGTGTTGTGTGGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02723.hp1 NA19076.hp1 HG00408.hp1 HG02723.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0054 a0001c0001t0001g0183 a0001c0001t0001g0016 a0001c0001t0001g0054 a0001c0001t0001g0183	3	208	0.0144	28	c.113 others(43): Show c.113+650_113+651insCCACACACACACCACACAACACACACAC	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
DYRK1A_chr21_37361773_37531358	37417529	C C	CTTTTTCT others(21): Show CTTTTTCTTTTTCTTTTTCTTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0126 a0001c0001t0126	a0001c0001t0126g0237 a0001c0001t0126g0237	1	125	0.0080	28	c.-76 others(45): Show c.-76-2765_-76-2764insCTTTTTCTTTTTCTTTTTCTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK4_chr12_4557208_4618875	4575298	A A	ATTGTGTG others(21): Show ATTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02056.hp1 HG03098.hp1 others(7): Show HG00544.hp1 HG02056.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03579.hp1 HG03704.hp1 NA18942.hp1 NA18991.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0014 a0002c0006	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0008t0001 a0001c0014t0001 a0002c0006t0001	a0001c0001t0001g0078 a0001c0001t0001g0244 a0001c0001t0001g0336 others(7): Show a0001c0001t0001g0078 a0001c0001t0001g0244 a0001c0001t0001g0336 a0001c0002t0001g0240 a0001c0005t0001g0152 a0001c0008t0001g0119 a0001c0008t0001g0346 a0001c0008t0001g0358 a0001c0014t0001g0111 a0002c0006t0001g0077	10	278	0.0360	28	c.132 others(45): Show c.132+7250_132+7251insTTGTGTGTGTGTGTGTGTGTGTGTGTGT	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	2/14			chr12	TogoVar
DYSF_chr2_71448561_71691763	71618604	G G	GGTGTGTG others(21): Show GGTGTGTGTGTTTGTGTGGGGTGAGTTGT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	127	0.0079	28	c.441 others(47): Show c.4410+5197_4410+5198insTGTGTGTTTGTGTGGGGTGAGTTGTG TG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71638247	A A	ATAATCCA others(21): Show ATAATCCATGTGAATACAGGTTATTGAGG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18962.hp1 NA19085.hp2 NA18947.hp2 NA18962.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0020 a0001c0002 a0001c0020	a0001c0002t0001 a0001c0020t0001 a0001c0002t0001 a0001c0020t0001	a0001c0002t0001g0160 a0001c0020t0001g0071 a0001c0020t0001g0085 a0001c0002t0001g0160 a0001c0020t0001g0071 a0001c0020t0001g0085	3	190	0.0158	28	c.441 others(47): Show c.4411-5697_4411-5696insATTGAGGTAATCCATGTGAATACAGG TT	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71638247	A A	ATAATCCA others(21): Show ATAATCCATGTGAATACAGGTTATTGAGG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18962.hp1 NA19085.hp1 NA18947.hp1 NA18962.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0020 a0001c0002 a0001c0020	a0001c0002t0002 a0001c0020t0001 a0001c0002t0002 a0001c0020t0001	a0001c0002t0002g0164 a0001c0020t0001g0132 a0001c0020t0001g0133 a0001c0002t0002g0164 a0001c0020t0001g0132 a0001c0020t0001g0133	3	206	0.0146	28	c.452 others(47): Show c.4528-5697_4528-5696insATTGAGGTAATCCATGTGAATACAGG TT	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	41/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DZANK1_chr20_18378367_18472030	18456587	C C	CCTCCTAG others(21): Show CCTCCTAGGCAACCACTGATCTGTTTCCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0061 a0002c0004t0003g0061	1	168	0.0060	28	c.264 others(45): Show c.264-1254_264-1227dupAGGAAACAGATCAGTGGTTGCCTAGGAG	DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	3/20			chr20	TogoVar
DZIP1_chr13_95573202_95649706	95575590	C C	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0087 a0001c0001t0026g0087	1	283	0.0035	28	c.66 others(39): Show c.6643_*6644insACACACACACACACACACACACACACAC	DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding		2611		chr13	TogoVar
DZIP3_chr3_108584722_108699840	108622880	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19083.hp1 NA18951.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0073 a0001c0001t0001g0009 a0001c0001t0001g0073	2	7	0.2857	28	c.376 others(45): Show c.376-1563_376-1562insCTCTCTCTCTCTCTCTCTCTCTCTCTGT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(21): Show ACACACACACACACACACACACACTCTCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0223	1	18	0.0556	28	c.696 others(45): Show c.696+1880_696+1881insACACACACACACACACACACACTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(21): Show ACACACACACACACACACATACACACTCT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	18	0.0556	28	c.696 others(45): Show c.696+1880_696+1881insACACACACACACACACATACACACTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(21): Show ACACACACACACACACATACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03704.hp1 HG03654.hp2 HG03704.hp1	a0001 a0001	a0001c0013 a0001c0015 a0001c0013 a0001c0015	a0001c0013t0001 a0001c0015t0001 a0001c0013t0001 a0001c0015t0001	a0001c0013t0001g0264 a0001c0015t0001g0251 a0001c0013t0001g0264 a0001c0015t0001g0251	2	19	0.1053	28	c.696 others(45): Show c.696+1880_696+1881insACACACACACACACATACACTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(21): Show ACACACACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA19083.hp1 HG03239.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0073 a0001c0001t0001g0054 a0001c0001t0001g0073	2	19	0.1053	28	c.696 others(45): Show c.696+1880_696+1881insACACACACACACACTCTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(21): Show ACACACACACACACATACACTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0255 a0001c0002t0001g0255	1	18	0.0556	28	c.696 others(45): Show c.696+1880_696+1881insACACACACACACATACACTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(21): Show ACACACACACACACTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03834.hp1 NA18957.hp1 others(3): Show HG01109.hp2 HG03834.hp1 NA18957.hp1 NA18973.hp1 NA19000.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0030 a0001c0001t0001g0075 a0001c0001t0001g0076 others(3): Show a0001c0001t0001g0030 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0002g0066	6	23	0.2609	28	c.696 others(45): Show c.696+1880_696+1881insACACACACACACTCTCTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(21): Show ACACACACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	18	0.0556	28	c.696 others(45): Show c.696+1880_696+1881insACACACACACTCTCTCTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(21): Show ACACACACACTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18978.hp2 NA18612.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0001g0045 a0001c0001t0001g0062	2	19	0.1053	28	c.696 others(45): Show c.696+1880_696+1881insACACACACTCTCTCTCTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(21): Show ACACACACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA20752.hp2 NA19064.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0001g0008 a0001c0001t0001g0038	2	19	0.1053	28	c.696 others(45): Show c.696+1880_696+1881insACACACTCTCTCTCTCTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACTC others(21): Show ACACACTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	18	0.0556	28	c.696 others(45): Show c.696+1880_696+1881insACACTCTCTCTCTCTCTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
E2F6_chr2_11439375_11471161	11466855	G G	GCCTGCCT others(21): Show GCCTGCCTGCCTGCCTGCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG03486.hp1 HG02486.hp2 HG02559.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0182 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0182	3	147	0.0204	28	c.-97 others(37): Show c.-977_-976insAAGGAAGGAAGGCAGGCAGGCAGGCAGG	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		695		chr2	TogoVar

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