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
ENPP6_chr4_184083706_184222873	184113899	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0021 a0001c0002t0013g0021	1	320	0.0031	20	c.856 others(37): Show c.856-1110_856-1091dupGAAAGAAAGAAAGAAAGAAA	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	5/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184131136	A A	ACTTTCTT others(13): Show ACTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp1 HG00738.hp2 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0035 a0001c0002t0002g0116 a0001c0002t0002g0035 a0001c0002t0002g0116	2	320	0.0063	20	c.422 others(37): Show c.422-6865_422-6864insAAAGAAAGAAAGAAAGAAAG	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184131140	A A	ACTTTCTT others(13): Show ACTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02976.hp2 NA18970.hp1 HG00408.hp2 HG02976.hp2 NA18970.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0001c0002t0015 a0002c0001t0001 a0001c0002t0002 a0001c0002t0015 a0002c0001t0001	a0001c0002t0002g0083 a0001c0002t0015g0190 a0002c0001t0001g0056 a0001c0002t0002g0083 a0001c0002t0015g0190 a0002c0001t0001g0056	3	320	0.0094	20	c.422 others(37): Show c.422-6888_422-6869dupAAAGAAAGAAAGAAAGAAAG	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184131258	C C	CTTTCTCT others(13): Show CTTTCTCTTTCTTTCTTTCCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02129.hp2 HG03942.hp2 HG01074.hp1 HG02129.hp2 HG03942.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0037 a0002c0001t0001g0059 a0002c0001t0001g0285 a0002c0001t0001g0037 a0002c0001t0001g0059 a0002c0001t0001g0285	3	320	0.0094	20	c.422 others(37): Show c.422-6987_422-6986insAGGAAAGAAAGAAAGAGAAA	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184131259	T T	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00735.hp2 HG00738.hp2 others(17): Show HG00408.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01106.hp1 HG01192.hp1 HG01346.hp1 HG01978.hp1 HG02300.hp1 HG02559.hp1 HG03942.hp1 NA18612.hp2 NA18951.hp2 NA18957.hp2 NA18965.hp1 NA18969.hp1 NA18983.hp1 NA19004.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0001 a0001c0002 a0001c0005 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0001c0002t0015 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0015 a0001c0005t0002 a0002c0001t0001	a0001c0002t0001g0040 a0001c0002t0001g0075 a0001c0002t0002g0035 others(17): Show a0001c0002t0001g0040 a0001c0002t0001g0075 a0001c0002t0002g0035 a0001c0002t0002g0060 a0001c0002t0002g0116 a0001c0002t0002g0125 a0001c0002t0002g0146 a0001c0002t0002g0213 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0015g0190 a0001c0005t0002g0005 a0002c0001t0001g0102 a0002c0001t0001g0236 a0002c0001t0001g0291	20	320	0.0625	20	c.422 others(37): Show c.422-7007_422-6988dupGAAGGAAGGAAGGAAGGAAG	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184134131	G G	GATTTATT others(13): Show GATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00639.hp2 others(8): Show HG00140.hp1 HG00140.hp2 HG00639.hp2 HG02071.hp2 HG02559.hp2 HG03239.hp1 HG03239.hp2 NA18951.hp1 NA19082.hp1 NA19082.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0001c0002t0005 a0001c0002t0013 others(2): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0013 a0002c0001t0001 a0002c0001t0002	a0001c0002t0002g0163 a0001c0002t0005g0039 a0001c0002t0013g0021 others(8): Show a0001c0002t0002g0163 a0001c0002t0005g0039 a0001c0002t0013g0021 a0001c0002t0013g0043 a0002c0001t0001g0028 a0002c0001t0001g0030 a0002c0001t0001g0050 a0002c0001t0001g0051 a0002c0001t0001g0214 a0002c0001t0001g0256 a0002c0001t0002g0228	11	320	0.0344	20	c.422 others(37): Show c.422-9879_422-9860dupAAATAAATAAATAAATAAAT	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7			chr4	TogoVar
ENTHD1_chr22_39738044_39898760	39766019	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	218	0.0046	20	c.833 others(35): Show c.833-430_833-411dupTTTTTTTTTTTTTTTTTTTT	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	5/6			chr22	TogoVar
ENTHD1_chr22_39738044_39898760	39829790	C C	CAATAAAT others(13): Show CAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18988.hp2 NA19067.hp1 others(1): Show HG04115.hp2 NA18988.hp2 NA19067.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0169 a0001c0001t0002g0170 others(1): Show a0001c0001t0002g0165 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172	4	218	0.0184	20	c.711 others(37): Show c.711+6030_711+6049dupTATTTATTTATTTATTTATT	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	4/6			chr22	TogoVar
ENTPD1_chr10_95751163_95882266	95758002	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp1 HG02083.hp2 others(2): Show HG00423.hp2 HG00621.hp1 HG02083.hp2 NA18978.hp1 NA18998.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0002c0003t0004	a0001c0001t0001g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 others(2): Show a0001c0001t0001g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0016g0186 a0002c0003t0004g0182	5	340	0.0147	20	c.16+ others(35): Show c.16+1756_16+1775dupAAAAAAAAAAAAAAAAAAAA	ENTPD1	ENSG00000138185.20	transcript	ENST00000371205.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD1_chr10_95751163_95882266	95856671	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0016 a0001c0001t0011g0016	1	340	0.0029	20	c.107 others(39): Show c.1075-3797_1075-3796insTATATATATATATATATACA	ENTPD1	ENSG00000138185.20	transcript	ENST00000371205.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD4_chr8_23424162_23462647	23427124	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01952.hp2 HG01978.hp2 others(8): Show HG01891.hp2 HG01952.hp2 HG01978.hp2 HG02647.hp1 HG02683.hp1 HG03225.hp2 HG03239.hp1 NA18981.hp1 NA19056.hp2 NA19062.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0043 a0001c0001t0001 a0001c0003t0001 a0001c0003t0043	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0003t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0003t0001g0004 a0001c0003t0001g0139 a0001c0003t0001g0149 a0001c0003t0043g0143	11	412	0.0267	20	c.57 others(31): Show c.5782_*5801dupTTTTTTTTTTTTTTTTTTTT	ENTPD4	ENSG00000197217.13	transcript	ENST00000358689.9	protein_coding		2037		chr8	TogoVar
ENTPD8_chr9_137429364_137446357	137441055	G G	GCCCCCCA others(13): Show GCCCCCCAGACCAGGACAGCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	392	0.0026	20	c.-21 others(35): Show c.-21+211_-21+230dupGGCTGTCCTGGTCTGGGGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTREP1_chr9_69320215_69397456	69367816	T T	TATATAAA others(13): Show TATATAAATATATATACACAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	342	0.0029	20	c.472 others(37): Show c.472-3678_472-3677insAATATATATACACACATATA	ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29371349	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0021 a0002c0003t0021	a0002c0003t0021g0016 a0002c0003t0021g0016	1	125	0.0080	20	c.276 others(39): Show c.276+10406_276+10425dupGTGTGTGTGTGTGTGTGTGT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29402251	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02922.hp1 NA19065.hp1 HG02055.hp1 HG02922.hp1 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0003 a0001c0001 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0008t0036 a0002c0003t0005 a0001c0001t0001 a0001c0008t0036 a0002c0003t0005	a0001c0001t0001g0042 a0001c0008t0036g0045 a0002c0003t0005g0063 a0001c0001t0001g0042 a0001c0008t0036g0045 a0002c0003t0005g0063	3	125	0.0240	20	c.220 others(39): Show c.220-20421_220-20420insATATATATATATATATATAT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29402265	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02897.hp1 NA20300.hp1 NA20905.hp1 HG02897.hp1 NA20300.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0003c0034 a0001c0001 a0003c0006 a0003c0034	a0001c0001t0004 a0003c0006t0046 a0003c0034t0002 a0001c0001t0004 a0003c0006t0046 a0003c0034t0002	a0001c0001t0004g0026 a0003c0006t0046g0037 a0003c0034t0002g0046 a0001c0001t0004g0026 a0003c0006t0046g0037 a0003c0034t0002g0046	3	125	0.0240	20	c.220 others(39): Show c.220-20435_220-20434insGTATATATATATATATATAT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29563842	T T	TATAAATA others(13): Show TATAAATAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0095 a0002c0005t0005g0095	1	125	0.0080	20	c.219 others(37): Show c.219+6662_219+6663insTTATTTATTTATTTATTTAT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29566846	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18990.hp1 HG02886.hp2 NA18990.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0016 a0002c0003t0023 a0001c0002t0016 a0002c0003t0023	a0001c0002t0016g0012 a0002c0003t0023g0027 a0001c0002t0016g0012 a0002c0003t0023g0027	2	125	0.0160	20	c.219 others(37): Show c.219+3639_219+3658dupGTGTGTGTGTGTGTGTGTGT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP3_chr1_155242205_155260483	155244825	A A	AGAGCGAG others(13): Show AGAGCGAGAGAGCGAGAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG03490.hp1 HG02683.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0091 a0001c0001t0002g0093	2	395	0.0051	20	c.29 others(31): Show c.2956_*2957insGCTCTCTCGCTCTCTCGCTC	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding		2379		chr1	TogoVar
ENTREP3_chr1_155242205_155260483	155252690	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA19082.hp2 NA18948.hp2 NA19082.hp2	a0003 a0005 a0003 a0005	a0003c0002 a0005c0005 a0003c0002 a0005c0005	a0003c0002t0001 a0005c0005t0001 a0003c0002t0001 a0005c0005t0001	a0003c0002t0001g0184 a0005c0005t0001g0183 a0003c0002t0001g0184 a0005c0005t0001g0183	2	395	0.0051	20	c.622 others(35): Show c.622-786_622-785insTATATATATATATATATACA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
ENTREP3_chr1_155242205_155260483	155252690	G G	GTGTATGT others(13): Show GTGTATGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	395	0.0025	20	c.622 others(35): Show c.622-786_622-785insTATATATATATATACATACA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
ENTREP3_chr1_155242205_155260483	155252690	G G	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA18978.hp1 NA18978.hp2 HG01257.hp2 NA18978.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0161 a0001c0001t0001g0039 a0001c0001t0001g0161	3	395	0.0076	20	c.622 others(35): Show c.622-786_622-785insTATATATATATATATACACA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
ENTREP3_chr1_155242205_155260483	155252722	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	395	0.0025	20	c.622 others(35): Show c.622-818_622-817insAAAATATATATATATATATA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
ENTREP3_chr1_155242205_155260483	155252722	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	395	0.0025	20	c.622 others(35): Show c.622-818_622-817insAAAAAAAAAATATATATATA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
ENTREP3_chr1_155242205_155260483	155252722	A A	ATATATAT others(13): Show ATATATATATTATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	395	0.0025	20	c.622 others(35): Show c.622-818_622-817insATATATATATAATATATATA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
ENY2_chr8_109329347_109350954	109349396	G G	GATATATA others(13): Show GATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01516.hp1 HG02451.hp1 others(3): Show HG00639.hp1 HG01516.hp1 HG02451.hp1 HG02976.hp2 HG03239.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0067 others(3): Show a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0067 a0001c0001t0001g0083 a0001c0001t0005g0087 a0001c0001t0006g0058	6	428	0.0140	20	c.59 others(31): Show c.5915_*5916insATATATATATATATATATAT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding		3443		chr8	TogoVar
ENY2_chr8_109329347_109350954	109349397	T T	TTATATAT others(13): Show TTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0042 a0001c0001t0023g0042	1	428	0.0023	20	c.59 others(31): Show c.5916_*5917insTATATATATATATATATATA	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding		3444		chr8	TogoVar
EOGT_chr3_68970225_69018684	68976641	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp1 HG02572.hp2 HG02886.hp1 others(5): Show HG01346.hp1 HG02572.hp2 HG02886.hp1 HG02896.hp1 HG02970.hp1 HG03453.hp1 HG03516.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0014 a0001c0001t0034 a0001c0002t0014 others(2): Show a0001c0001t0014 a0001c0001t0034 a0001c0002t0014 a0001c0003t0014 a0001c0004t0014	a0001c0001t0014g0066 a0001c0001t0034g0083 a0001c0001t0034g0162 others(4): Show a0001c0001t0014g0066 a0001c0001t0034g0083 a0001c0001t0034g0162 a0001c0002t0014g0020 a0001c0002t0014g0294 a0001c0003t0014g0140 a0001c0004t0014g0116	8	444	0.0180	20	c.95 others(29): Show c.957_*976dupACACACACACACACACACAC	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding	18/18	976		chr3	TogoVar
EOGT_chr3_68970225_69018684	68981836	T T	TTGTTATC others(13): Show TTGTTATCAAACGTTTGATAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01952.hp1 HG02135.hp2 others(14): Show HG01884.hp1 HG01952.hp1 HG02135.hp2 HG02280.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp2 HG03225.hp1 HG03225.hp2 HG03579.hp2 HG06807.hp1 NA18963.hp1 NA19011.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0003c0008	a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 others(9): Show a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0043 a0001c0002t0015 a0001c0002t0023 a0001c0002t0024 a0001c0002t0048 a0001c0002t0049 a0001c0007t0017 a0003c0008t0032	a0001c0001t0029g0044 a0001c0001t0030g0010 a0001c0001t0031g0200 others(13): Show a0001c0001t0029g0044 a0001c0001t0030g0010 a0001c0001t0031g0200 a0001c0001t0032g0244 a0001c0001t0043g0268 a0001c0002t0015g0047 a0001c0002t0023g0043 a0001c0002t0024g0338 a0001c0002t0048g0049 a0001c0002t0049g0048 a0001c0007t0017g0052 a0001c0007t0017g0073 a0001c0007t0017g0075 a0001c0007t0017g0076 a0001c0007t0017g0099 a0003c0008t0032g0034	17	444	0.0383	20	c.121 others(37): Show c.1214+974_1214+975insTTATCAAACGTTTGATAACA	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding	15/17			chr3	TogoVar
EOGT_chr3_68970225_69018684	69007511	G G	GGGGGGGG others(13): Show GGGGGGGGGGGGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0270 a0001c0001t0064g0270	1	444	0.0023	20	c.420 others(35): Show c.420+201_420+202insGCCCCCCCCCCCCCCCCCCC	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding	6/17			chr3	TogoVar
EOLA1_chrX_149536012_149553331	149540050	G G	GCCCCTCC others(13): Show GCCCCTCCCTGCCCCGCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02257.hp2 HG02258.hp1 others(8): Show HG01243.hp1 HG02257.hp2 HG02258.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02818.hp2 HG02922.hp1 HG03041.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0107 a0001c0001t0006g0108 others(4): Show a0001c0001t0006g0010 a0001c0001t0006g0107 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0112	11	315	0.0349	20	c.-15 others(31): Show c.-1523_-1522insCCCCTCCCTGCCCCGCCCCT	EOLA1	ENSG00000197620.11	transcript	ENST00000393985.8	protein_coding		961		chrX	TogoVar
EOLA1_chrX_149536012_149553331	149540055	T T	TCCCTGCC others(13): Show TCCCTGCCCCGCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0105 a0002c0002t0005g0105	1	315	0.0032	20	c.-15 others(31): Show c.-1518_-1517insCCCTGCCCCGCCCCTCCCCC	EOLA1	ENSG00000197620.11	transcript	ENST00000393985.8	protein_coding		956		chrX	TogoVar
EOMES_chr3_27710953_27727323	27711284	T T	TTATATAT others(13): Show TTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA19090.hp1 NA18951.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0035 a0001c0009t0001g0076 a0001c0001t0001g0035 a0001c0009t0001g0076	2	400	0.0050	20	c.57 others(31): Show c.5785_*5786insTATATATATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4668		chr3	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA19062.hp2 NA18990.hp2 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0010 a0002c0002t0002g0008 a0002c0002t0002g0010	2	400	0.0050	20	c.57 others(31): Show c.5753_*5754insAAAATATATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG02922.hp1 HG03540.hp2 others(1): Show HG00735.hp1 HG02922.hp1 HG03540.hp2 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0009 a0002c0002t0002g0008 a0002c0002t0002g0010 others(1): Show a0001c0001t0001g0009 a0002c0002t0002g0008 a0002c0002t0002g0010 a0002c0002t0002g0027	4	400	0.0100	20	c.57 others(31): Show c.5753_*5754insAAAAAATATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	1	400	0.0025	20	c.57 others(31): Show c.5753_*5754insAAAAAAAATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EP300_chr22_41087592_41185077	41088007	A A	AAAAAGAA others(13): Show AAAAAGAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA19065.hp1 NA18980.hp1 NA19065.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0031 a0001c0011t0031	a0001c0011t0031g0190 a0001c0011t0031g0191 a0001c0011t0031g0190 a0001c0011t0031g0191	2	300	0.0067	20	c.-49 others(31): Show c.-4998_-4997insAAAAGAAAAGAAAAGAAAAG	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding		4584		chr22	TogoVar
EP300_chr22_41087592_41185077	41154376	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00735.hp2 HG01167.hp2 others(5): Show HG00423.hp2 HG00735.hp2 HG01167.hp2 HG02280.hp1 HG02683.hp1 HG02698.hp2 HG03471.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0014 a0002c0003t0001 a0002c0003t0013 a0001c0002t0014 a0002c0003t0001 a0002c0003t0013	a0001c0002t0014g0141 a0001c0002t0014g0164 a0002c0003t0001g0140 others(5): Show a0001c0002t0014g0141 a0001c0002t0014g0164 a0002c0003t0001g0140 a0002c0003t0001g0147 a0002c0003t0001g0159 a0002c0003t0001g0175 a0002c0003t0001g0178 a0002c0003t0013g0137	8	300	0.0267	20	c.314 others(37): Show c.3143-615_3143-596dupTTTTTTTTTTTTTTTTTTTT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	16/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167584	G G	GTGTGTGT others(13): Show GTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0157 a0002c0003t0001g0157	1	300	0.0033	20	c.387 others(37): Show c.3875-864_3875-863insGTGTGTATATATATATATAT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP400_chr12_131944942_132085460	132073459	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02486.hp2 HG02615.hp2 others(4): Show HG01175.hp1 HG02486.hp2 HG02615.hp2 HG02630.hp2 HG03453.hp1 NA18522.hp1 NA19086.hp2	a0001 a0004 a0012 a0001 a0004 a0012	a0001c0003 a0001c0069 a0004c0004 others(2): Show a0001c0003 a0001c0069 a0004c0004 a0004c0013 a0012c0071	a0001c0003t0002 a0001c0069t0002 a0004c0004t0002 others(2): Show a0001c0003t0002 a0001c0069t0002 a0004c0004t0002 a0004c0013t0006 a0012c0071t0002	a0001c0003t0002g0006 a0001c0069t0002g0061 a0004c0004t0002g0060 others(4): Show a0001c0003t0002g0006 a0001c0069t0002g0061 a0004c0004t0002g0060 a0004c0004t0002g0076 a0004c0013t0006g0054 a0004c0013t0006g0055 a0012c0071t0002g0065	7	208	0.0337	20	c.902 others(39): Show c.9022-3043_9022-3042insTTTTTTTTTTTTTTTTTTTT	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	51/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EPAS1_chr2_46292407_46391697	46359257	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0031 a0002c0002t0020g0031	1	326	0.0031	20	c.455 others(37): Show c.455-1376_455-1357dupAAAAAAAAAAAAAAAAAAAA	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L1_chr20_36149740_36237799	36234156	A A	ATATATAT others(13): Show ATATATATATGTACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02965.hp1 HG02922.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0108 a0001c0001t0001g0110	2	236	0.0085	20	c.48 others(31): Show c.4816_*4817insTATATATATGTACATATATG	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding		1358		chr20	TogoVar
EPB41L2_chr6_130834347_131068245	130951312	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01071.hp1 HG00738.hp2 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0330 a0001c0002t0002g0331 a0001c0002t0002g0330 a0001c0002t0002g0331	2	356	0.0056	20	c.705 others(37): Show c.705+3773_705+3792dupAAAAAAAAAAAAAAAAAAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18999.hp1 NA18994.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0305 a0001c0001t0001g0276 a0001c0001t0001g0305	2	356	0.0056	20	c.705 others(37): Show c.705+1045_705+1064dupAAAAAAAAAAAAAAAAAAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130972937	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18962.hp1 NA18990.hp2 others(1): Show HG01891.hp1 NA18962.hp1 NA18990.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0193 a0001c0001t0003g0197 a0001c0001t0003g0214 others(1): Show a0001c0001t0003g0193 a0001c0001t0003g0197 a0001c0001t0003g0214 a0001c0001t0003g0217	4	356	0.0112	20	c.-14 others(39): Show c.-14-16458_-14-16439dupTTTTTTTTTTTTTTTTTTTT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130998743	T T	TTTTCTCC others(13): Show TTTTCTCCCTATGACTATTTG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	356	0.0028	20	c.-14 others(39): Show c.-14-42264_-14-42245dupCAAATAGTCATAGGGAGAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	131032263	T T	TTCCTTCA others(13): Show TTCCTTCAGTTTTTTCATCCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02280.hp1 others(7): Show HG01884.hp1 HG02257.hp1 HG02280.hp1 HG02809.hp2 HG02818.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0334 others(7): Show a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0002g0335 a0001c0002t0002g0319	10	356	0.0281	20	c.-15 others(39): Show c.-15+30872_-15+30891dupGGGATGAAAAAACTGAAGGA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L3_chr18_5387386_5548997	5391830	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 NA18961.hp2 HG00558.hp1 NA18961.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0190 a0006c0007t0001g0191 a0006c0007t0001g0190 a0006c0007t0001g0191	2	222	0.0090	20	c.16 others(31): Show c.1654_*1655insTTTTTTTTTTTTTTTTTTTT	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding		555		chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5499829	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0067 a0001c0002t0012g0067	1	222	0.0045	20	c.-11 others(39): Show c.-11-10636_-11-10635insTATATATATATATATATATA	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5499829	G G	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	222	0.0045	20	c.-11 others(39): Show c.-11-10636_-11-10635insTATATATATATATATACACA	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar

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