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
DYSF_chr2_71448561_71691763	71662936	A A	ATGTGTGT others(90): Show ATGTGTGTGTGTGTGCATATTTGTGTGTGTATGTCTGTGTCCATGTGTCT GCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTTACGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02818.hp2 HG02630.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0003 a0001c0001t0001 a0001c0006t0003	a0001c0001t0001g0192 a0001c0006t0003g0009 a0001c0001t0001g0192 a0001c0006t0003g0009	2	102	0.0196	97	c.488 others(116): Show c.4887-1323_4887-1227dupTGTGTGCATATTTGTGTGTGTATGTC TGTGTCCATGTGTCTGCATATGTGTGTGGTGTGTGTATATTTGTGTATGT TTACGTGTGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	44/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71663024	C C	CGTGTGTG others(90): Show CGTGTGTGTGTGTGTGTGTGTGCATATTTGTGTGTGTATGTCTGTGTCCA TGTGTCTGCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTTACGT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0062 a0001c0004t0001g0062	1	185	0.0054	97	c.488 others(116): Show c.4887-1227_4887-1226insTGTGCATATTTGTGTGTGTATGTCTG TGTCCATGTGTCTGCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTT ACGTGTGTGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	44/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71662936	A A	ATGTGTGT others(90): Show ATGTGTGTGTGTGTGCATATTTGTGTGTGTATGTCTGTGTCCATGTGTCT GCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTTACGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02630.hp2 HG02818.hp2 HG01167.hp2 HG02630.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0003 a0001c0001t0001 a0001c0006t0003	a0001c0001t0001g0135 a0001c0001t0001g0203 a0001c0006t0003g0204 a0001c0001t0001g0135 a0001c0001t0001g0203 a0001c0006t0003g0204	3	112	0.0268	97	c.500 others(116): Show c.5004-1323_5004-1227dupTGTGTGCATATTTGTGTGTGTATGTC TGTGTCCATGTGTCTGCATATGTGTGTGGTGTGTGTATATTTGTGTATGT TTACGTGTGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	45/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71663024	C C	CGTGTGTG others(90): Show CGTGTGTGTGTGTGTGTGTGTGCATATTTGTGTGTGTATGTCTGTGTCCA TGTGTCTGCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTTACGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0080 a0001c0004t0001g0080	1	200	0.0050	97	c.500 others(116): Show c.5004-1227_5004-1226insTGTGCATATTTGTGTGTGTATGTCTG TGTCCATGTGTCTGCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTT ACGTGTGTGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	45/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EDDM13_chr19_56267748_56315454	56302581	C C	CTCCCTCC others(90): Show CTCCCTCCCCCCTTCCTTTTCTTCCTCCCTCCCTCCCCCCTTCCTTTTCT TCCTCCCTCCCTCCCCCCTTCCTTTTCTTCCTCCCTCCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	304	0.0033	97	c.423 others(112): Show c.423+486_423+487insTCCCTCCCCCCTTCCTTTTCTTCCTCCCTC CCTCCCCCCTTCCTTTTCTTCCTCCCTCCCTCCCCCCTTCCTTTTCTTCC TCCCTCCCTCCCCCCTT	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	13/14			chr19	TogoVar
EFNA2_chr19_1280873_1306431	1282597	A A	AGGGAGGA others(90): Show AGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGA GGGAGGAGGGTGTGAAGGGAGGAGGGGAGGGGAGGAGGGAGGGAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	286	0.0035	97	c.-35 others(108): Show c.-3572_-3571insGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGG AAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGGAGGGGAGG AGGGAGGGAGGAG	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3275		chr19	TogoVar
EGFLAM_chr5_38253559_38470480	38396045	T T	TTCACTGT others(90): Show TTCACTGTACCCACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTGGCCCAGGTGGGAGTGCAGTGGCGCAATCTCGGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19043.hp1 HG02280.hp1 NA19043.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0007 a0003c0003t0011 a0002c0002t0007 a0003c0003t0011	a0002c0002t0007g0095 a0003c0003t0011g0110 a0002c0002t0007g0095 a0003c0003t0011g0110	2	160	0.0125	97	c.713 others(116): Show c.713-10063_713-10062insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTGGCCCAGGTGGGAGTGCAGTGGCGCAATCTC GGCTCACTGTACCCACTCTTT	EGFLAM	ENSG00000164318.18	transcript	ENST00000322350.10	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
EGFLAM_chr5_38253559_38470480	38396045	T T	TTCACTGT others(90): Show TTCACTGTACCCACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTGGCCCAGGTGGGAGTGCAGTGGTGCAATCTCGGC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	159	0.0063	97	c.713 others(116): Show c.713-10063_713-10062insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTGGCCCAGGTGGGAGTGCAGTGGTGCAATCTC GGCTCACTGTACCCACTCTTT	EGFLAM	ENSG00000164318.18	transcript	ENST00000322350.10	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
EIF4G3_chr1_20801479_21181897	21179876	T T	TATATAAT others(90): Show TATATAATATATTATATATAATATAATATATTATATATATAATATAATAT ATATAATATATATTTAATATATTATATATAATATATATTATATATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	302	0.0033	97	c.-36 others(108): Show c.-3611_-3610insTAAATATATAATATATATTATATATAATATATTA AATATATATTATATATATTATATTATATATATAATATATTATATTATATA TAATATATTATAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		2980		chr1	TogoVar
EIPR1_chr2_3183970_3382818	3301329	A A	ACTCCAAG others(90): Show ACTCCAAGGAGAACTGGCCTTCACTCCCTGTGCCTGCCAGGGGACAGCCA TCTGAACACTGAGGAGTCTCCCAGGCCAGGTCACTAAGTTAGAGAATG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0181 a0001c0002t0002g0181	1	248	0.0040	97	c.259 others(116): Show c.259+36591_259+36687dupCATTCTCTAACTTAGTGACCTGGCCT GGGAGACTCCTCAGTGTTCAGATGGCTGTCCCCTGGCAGGCACAGGGAGT GAAGGCCAGTTCTCCTTGGAG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAPOR1_chr1_109109115_109211781	109113393	A A	AGAGAGAG others(90): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGACCCTGTCAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0017 a0002c0015t0017	a0002c0015t0017g0113 a0002c0015t0017g0113	1	228	0.0044	97	c.-79 others(106): Show c.-791_-790insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGACCCTGTCAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		721		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109113399	A A	AGAGAGAG others(90): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACCCTG TCAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0103 a0001c0001t0013g0103	1	227	0.0044	97	c.-78 others(106): Show c.-785_-784insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGACCCTGTCAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		715		chr1	TogoVar
ELF1_chr13_40926924_41024316	40955515	T T	TGCCCGGC others(90): Show TGCCCGGCCAGCCGCCCCGTCCGGAAGTAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0340 a0001c0005t0003g0340	1	350	0.0029	97	c.253 others(114): Show c.253+3320_253+3321insGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTACTTCCGG ACGGGGCGGCTGGCCGGGC	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar
EMC10_chr19_50471507_50495871	50493651	G G	GAGACTCC others(90): Show GAGACTCCTGGGGGAAACCTAAACCCCTTCCATCTGGAAGGTTTGGAGCT TCCACCGCTGAGAAGGAAAAAAAAGGGAGTCGGTGGAGTGGAAGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0054 a0001c0002t0054	a0001c0002t0054g0005 a0001c0002t0054g0005	1	350	0.0029	97	c.11 others(110): Show c.11392_*11393insAGACTCCTGGGGGAAACCTAAACCCCTTCCAT CTGGAAGGTTTGGAGCTTCCACCGCTGAGAAGGAAAAAAAAGGGAGTCGG TGGAGTGGAAGGGGC	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		2781		chr19	TogoVar
EMC10_chr19_50471507_50495871	50493653	G G	GACTCCTG others(90): Show GACTCCTGGGGAAACCTAAACCCCTTCCATCTGGAAGGTTTGGAGCTTCC ACCGCTGAGAAGGAAAAAAAAGGGAGTCGGTGGAGTGGAAGGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 NA18959.hp1 HG01168.hp1 NA18959.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0028 a0006c0008t0130 a0001c0001t0028 a0006c0008t0130	a0001c0001t0028g0002 a0006c0008t0130g0040 a0001c0001t0028g0002 a0006c0008t0130g0040	2	4	0.5000	97	c.11 others(110): Show c.11394_*11395insACTCCTGGGGAAACCTAAACCCCTTCCATCTG GAAGGTTTGGAGCTTCCACCGCTGAGAAGGAAAAAAAAGGGAGTCGGTGG AGTGGAAGGGGCAGA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		2783		chr19	TogoVar
EMC10_chr19_50471507_50495871	50493653	G G	GACTCCTG others(90): Show GACTCCTGGGGGAAACCTAAACCCCTTCATCTGGAAGGTTTGGAGCTTCC ACCGCTGAGAAGGAAAAAAAAGGGAGTCGGTGGAGTGGAAGGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0001 a0001c0001t0022g0001	1	3	0.3333	97	c.11 others(110): Show c.11394_*11395insACTCCTGGGGGAAACCTAAACCCCTTCATCTG GAAGGTTTGGAGCTTCCACCGCTGAGAAGGAAAAAAAAGGGAGTCGGTGG AGTGGAAGGGGCAGA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		2783		chr19	TogoVar
EMC10_chr19_50471507_50495871	50493653	G G	GACTCCTG others(90): Show GACTCCTGGGGGAAACCTAAACCCCTTCCATCTGGAAGGTTGGAGCTTCC ACCGCTGAGAAGGAAAAAAAAGGGAGTCGGTGGAGTGGAAGGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	3	0.3333	97	c.11 others(110): Show c.11394_*11395insACTCCTGGGGGAAACCTAAACCCCTTCCATCT GGAAGGTTGGAGCTTCCACCGCTGAGAAGGAAAAAAAAGGGAGTCGGTGG AGTGGAAGGGGCAGA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		2783		chr19	TogoVar
EMC10_chr19_50471507_50495871	50493653	G G	GACTCCTG others(90): Show GACTCCTGGGGGAAACCTAAACCCCTTCCATCTGGAAGGTTTGGAGCTTC ACCGCTGAGAAGGAAAAAAAAGGGAGTCGGTGGAGTGGAAGGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0002 a0001c0001t0076g0002	1	3	0.3333	97	c.11 others(110): Show c.11394_*11395insACTCCTGGGGGAAACCTAAACCCCTTCCATCT GGAAGGTTTGGAGCTTCACCGCTGAGAAGGAAAAAAAAGGGAGTCGGTGG AGTGGAAGGGGCAGA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		2783		chr19	TogoVar
EMC10_chr19_50471507_50495871	50493653	G G	GACTCCTG others(90): Show GACTCCTGGGGGAAACCTAAACCCCTTCCATCTGGAAGGTTTGGAGCTTC CACCGCTGAGAAGGAAAAAAAGGGAGTCGGTGGAGTGGAAGGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG01169.hp1 NA18954.hp2 HG00609.hp2 HG01169.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0132 a0001c0002t0002 a0001c0002t0011 a0001c0001t0132 a0001c0002t0002 a0001c0002t0011	a0001c0001t0132g0002 a0001c0002t0002g0003 a0001c0002t0011g0003 a0001c0001t0132g0002 a0001c0002t0002g0003 a0001c0002t0011g0003	3	5	0.6000	97	c.11 others(110): Show c.11394_*11395insACTCCTGGGGGAAACCTAAACCCCTTCCATCT GGAAGGTTTGGAGCTTCCACCGCTGAGAAGGAAAAAAAGGGAGTCGGTGG AGTGGAAGGGGCAGA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		2783		chr19	TogoVar
EMC10_chr19_50471507_50495871	50493653	G G	GACTCCTG others(90): Show GACTCCTGGGGGAAACCTAACCCCTTCCATCTGGAAGGTTTGGAGCTTCC ACCGCTGAGAAGGAAAAAAAAGGGAGTCGGTGGAGTGGAAGGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0002 a0001c0001t0015g0002	1	3	0.3333	97	c.11 others(110): Show c.11394_*11395insACTCCTGGGGGAAACCTAACCCCTTCCATCTG GAAGGTTTGGAGCTTCCACCGCTGAGAAGGAAAAAAAAGGGAGTCGGTGG AGTGGAAGGGGCAGA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		2783		chr19	TogoVar
EMC10_chr19_50471507_50495871	50493653	G G	GACTCCTG others(90): Show GACTCCTGGGGGAACCTAAACCCCTTCCATCTGGAAGGTTTGGAGCTTCC ACCGCTGAGAAGGAAAAAAAAGGGAGTCGGTGGAGTGGAAGGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0160 a0001c0002t0160	a0001c0002t0160g0003 a0001c0002t0160g0003	1	3	0.3333	97	c.11 others(110): Show c.11394_*11395insACTCCTGGGGGAACCTAAACCCCTTCCATCTG GAAGGTTTGGAGCTTCCACCGCTGAGAAGGAAAAAAAAGGGAGTCGGTGG AGTGGAAGGGGCAGA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		2783		chr19	TogoVar
EPPK1_chr8_143852324_143883467	143878404	G G	GCCCGCAC others(90): Show GCCCGCACCCGCCCGCACCCGCCGCACCCGCCCGCACCCGCCGCACCTGC CCGCACCCGCCGCACCTGCCCGCACCTGCCCGCACCCGCCGCACCTGC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0062 a0062	a0062c0144 a0062c0144	a0062c0144t0007 a0062c0144t0007	a0062c0144t0007g0333 a0062c0144t0007g0333	1	343	0.0029	97	c.-46 others(110): Show c.-46+33_-46+34insGCAGGTGCGGCGGGTGCGGGCAGGTGCGGGCA GGTGCGGCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCGGGTGCGGCGGGT GCGGGCGGGTGCGGG	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1			chr8	TogoVar
ERBB4_chr2_211370717_212543802	212373951	C C	CCATATAT others(90): Show CCATATATATATCCATATATATCCATATATATATATCCATATATATCCAT ATATATATATCCATATATATCCATATATATATATCCATATATATCCAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03225.hp2 HG03471.hp1 HG02809.hp2 HG03225.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011	a0001c0001t0003g0040 a0001c0001t0006g0039 a0001c0001t0011g0041 a0001c0001t0003g0040 a0001c0001t0006g0039 a0001c0001t0011g0041	3	37	0.0811	97	c.82+ others(116): Show c.82+164497_82+164498insATGGATATATATGGATATATATATAT GGATATATATGGATATATATATATGGATATATATGGATATATATATATGG ATATATATGGATATATATATG	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERP44_chr9_99974185_100104000	100100928	A A	ATGCATAT others(90): Show ATGCATATATAATATATATTATATATGCATATATAATATATATTATATAT GTATATATAATATATATTATATGTATATATAATATATATTATATATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG00738.hp1 others(2): Show HG00323.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 others(2): Show a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0079 a0001c0001t0003g0080	5	192	0.0260	97	c.-20 others(108): Show c.-2089_-2088insACATATATAATATATATTATATATACATATAATA TATATTATATATACATATATAATATATATTATATATGCATATATAATATA TATTATATATGCA	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding		1929		chr9	TogoVar
EXD1_chr15_41177728_41235757	41199757	T T	TATATGAT others(90): Show TATATGATATATATCATATATGATATATATCATATATGATATATAATATA TCATATATGTGATATATAATATATCATATATATGATATATAATATATC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02572.hp1 others(6): Show HG02109.hp2 HG02559.hp1 HG02572.hp1 HG02647.hp1 HG02818.hp1 HG03041.hp1 HG03486.hp2 HG03540.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(6): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027	9	49	0.1837	97	c.535 others(114): Show c.535-3721_535-3720insGATATATTATATATCATATATATGATAT ATTATATATCACATATATGATATATTATATATCATATATGATATATATCA TATATGATATATATCATAT	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding	7/11			chr15	TogoVar
F5_chr1_169506951_169591481	169554124	T T	TGAAAACT others(90): Show TGAAAACTCTCACTTTTCTCTGATGACTCTCAAAATGACCTCCCTAGCCC TCCCTGAATTTTTAATAGAAAGTACATTCACGTAATTTTTATTACAGA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0005 a0006c0020t0005	a0006c0020t0005g0222 a0006c0020t0005g0222	1	282	0.0035	97	c.111 others(116): Show c.1118+1057_1118+1058insTCTGTAATAAAAATTACGTGAATGTA CTTTCTATTAAAAATTCAGGGAGGGCTAGGGAGGTCATTTTGAGAGTCAT CAGAGAAAAGTGAGAGTTTTC	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	7/24			chr1	TogoVar
FAIM_chr3_138603771_138638376	138609533	A A	ACTCTCTC others(90): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTC CCTCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	324	0.0031	97	c.-17 others(112): Show c.-17+637_-17+638insCCTCTCTCCCTCTCTCCCTCTCTCCCTCTC TCTCTCCCTCCCTCTCCCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609533	A A	ACTCTCTC others(90): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCT CCCTCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	324	0.0031	97	c.-17 others(112): Show c.-17+639_-17+640insCTCTCTCCCTCTCTCCCTCTCTCCCTCTCT CTCTCCCTCCCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609535	T T	TCTCTCTC others(90): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTC CCTCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	174	0.0057	97	c.-17 others(112): Show c.-17+639_-17+640insCCTCTCTCCCTCTCTCCCTCTCTCCCTCTC TCTCTCCCTCCCTCTCCCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609537	T T	TCTCTCTC others(90): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CCTCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19005.hp2 NA18522.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0308 a0002c0002t0001g0309 a0001c0001t0001g0308 a0002c0002t0001g0309	2	343	0.0058	97	c.-17 others(112): Show c.-17+639_-17+640insTCTCTCTCTCCCTCTCTCCCTCTCTCCCTC TCTCTCTCCCTCCCTCTCCCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609541	T T	TCTCTCTC others(90): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CCTCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA18940.hp2 HG01167.hp2 NA18940.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0323 a0003c0003t0001g0324 a0002c0002t0001g0323 a0003c0003t0001g0324	2	344	0.0058	97	c.-17 others(112): Show c.-17+639_-17+640insTCTCTCTCTCTCTCCCTCTCTCCCTCTCTC CCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTCCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609543	T T	TCTCTCTC others(90): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CCTCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG02572.hp1 others(2): Show HG01168.hp2 HG01169.hp1 HG02572.hp1 HG02622.hp2 HG02897.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0328 a0002c0002t0001g0017 a0002c0002t0001g0329 others(1): Show a0001c0001t0001g0328 a0002c0002t0001g0017 a0002c0002t0001g0329 a0003c0003t0001g0330	5	343	0.0146	97	c.-17 others(112): Show c.-17+639_-17+640insTCTCTCTCTCTCTCTCCCTCTCTCCCTCTC TCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTCCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609547	T T	TCTCTCTC others(90): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCCCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG06807.hp1 HG02451.hp2 HG06807.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0007 a0002c0002 a0009c0007	a0002c0002t0001 a0009c0007t0001 a0002c0002t0001 a0009c0007t0001	a0002c0002t0001g0128 a0009c0007t0001g0127 a0002c0002t0001g0128 a0009c0007t0001g0127	2	276	0.0072	97	c.-17 others(112): Show c.-17+639_-17+640insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCCCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCCTCTCTCTCTCT CTCTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAN1_chr15_30898915_30948108	30929739	T T	TCATATAT others(90): Show TCATATATAATATATATAAAATATATAATATATCATATATAATATAATAT ATAAAATATATAATATATCATATATAATATAATATATAAAATATATAA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19076.hp2 NA18946.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0079 a0001c0001t0005g0087 a0001c0001t0005g0079 a0001c0001t0005g0087	2	256	0.0078	97	c.278 others(114): Show c.2787+342_2787+343insCATATATAATATATATAAAATATATAAT ATATCATATATAATATAATATATAAAATATATAATATATCATATATAATA TAATATATAAAATATATAA	FAN1	ENSG00000198690.10	transcript	ENST00000362065.9	protein_coding	12/14			chr15	TogoVar
FAT1_chr4_186582794_186728856	186605518	A A	AGGGGAGT others(90): Show AGGGGAGTGGGGAGGAGGAAGAGAAGGAGGAGGAATGGAGAAGAGGTGGA GGGAAGAGGAGGAGTGGGGAGGGGAGTGGGGAGGAGGAAGAGAAGGAG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0025 a0025	a0025c0025 a0025c0025	a0025c0025t0016 a0025c0025t0016	a0025c0025t0016g0144 a0025c0025t0016g0144	1	297	0.0034	97	c.103 others(116): Show c.10350+551_10350+552insCTCCTTCTCTTCCTCCTCCCCACTCC CCTCCCCACTCCTCCTCTTCCCTCCACCTCTTCTCCATTCCTCCTCCTTC TCTTCCTCCTCCCCACTCCCC	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	17/26			chr4	TogoVar
FBN2_chr5_128252909_128543245	128539992	T T	TATATATC others(90): Show TATATATCATATATATCATATATATCATATATATCATATATATCATATAT ATCATATATATCATATATATCATATATATCATATATATCATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0009 a0001c0011t0009	a0001c0011t0009g0064 a0001c0011t0009g0064	1	190	0.0053	97	c.-23 others(108): Show c.-2390_-2389insGATATATATGATATATATGATATATATGATATAT ATGATATATATGATATATATGATATATATGATATATATGATATATATGAT ATATATGATATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1748		chr5	TogoVar
FBN3_chr19_8060402_8154592	8130604	G G	GGAAAGGA others(90): Show GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0027 a0027	a0027c0040 a0027c0040	a0027c0040t0001 a0027c0040t0001	a0027c0040t0001g0029 a0027c0040t0001g0029	1	350	0.0029	97	c.204 others(114): Show c.2044+630_2044+631insTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FGD6_chr12_95071749_95222467	95149124	A A	ATTATATA others(90): Show ATTATATAATACATAGCATATATTATATATTATATAATATATATAGCATA TATTATATATTATATAATATATATAGCATATATTATATATTATATAAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG04115.hp1 HG03669.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0050 a0001c0001t0002 a0001c0001t0050	a0001c0001t0002g0109 a0001c0001t0050g0107 a0001c0001t0002g0109 a0001c0001t0050g0107	2	335	0.0060	97	c.268 others(116): Show c.2685+3686_2685+3687insATTATATAATATATAATATATGCTAT ATATATTATATAATATATAATATATGCTATATATATTATATAATATATAA TATATGCTATGTATTATATAA	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar
FGD6_chr12_95071749_95222467	95149281	A A	ATATATTA others(90): Show ATATATTATATATTATATAATATATAGCATATATATATAATATATAGCAT ATATATTATATAATATTATATATATTATATAATATATAGCATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02080.hp2 NA19011.hp1 HG00423.hp1 HG02080.hp2 NA19011.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0025 a0001c0001 a0010c0025	a0001c0001t0001 a0001c0001t0041 a0010c0025t0001 a0001c0001t0001 a0001c0001t0041 a0010c0025t0001	a0001c0001t0001g0040 a0001c0001t0041g0020 a0010c0025t0001g0090 a0001c0001t0001g0040 a0001c0001t0041g0020 a0010c0025t0001g0090	3	218	0.0138	97	c.268 others(116): Show c.2685+3529_2685+3530insATATATATGCTATATATTATATAATA TATATAATATTATATAATATATATGCTATATATTATATATATATGCTATA TATTATATAATATATAATATA	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar
FKBP2_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(90): Show GAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	248	0.0040	97	c.-40 others(108): Show c.-4014_-4013insAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATAT ATATATATATATA	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		3971		chr11	TogoVar
FKBP2_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(90): Show GAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	248	0.0040	97	c.-40 others(108): Show c.-4014_-4013insAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATAT ATATATATATATA	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		3971		chr11	TogoVar
FKBP2_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(90): Show GAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	248	0.0040	97	c.-40 others(108): Show c.-4014_-4013insAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATAT ATATATATATATA	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		3971		chr11	TogoVar
FKBP2_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(90): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	248	0.0040	97	c.-40 others(108): Show c.-4014_-4013insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATAT ATATATATATATA	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		3971		chr11	TogoVar
FKBP2_chr11_64236095_64249132	64237126	G G	GAGAGAGA others(90): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGATATATATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	234	0.0043	97	c.-40 others(108): Show c.-4011_-4010insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGATATATATATATATATATATATATATATATAT ATATATATATATA	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		3968		chr11	TogoVar
FLT3_chr13_27998274_28105576	27999113	A A	ATTTATAT others(90): Show ATTTATATACATATAAATTTATATACATATAAATATATATATTTATATTT ATATACATATAAATATAAATATTTATATTTATATACATATAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG02258.hp1 HG02622.hp1 others(7): Show HG01496.hp2 HG02258.hp1 HG02622.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp1 HG03098.hp1 HG03130.hp1 NA20129.hp2 NA20905.hp2	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0005 a0010	a0002c0002 a0003c0003 a0004c0005 others(2): Show a0002c0002 a0003c0003 a0004c0005 a0005c0013 a0010c0041	a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 others(3): Show a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0004c0005t0001 a0005c0013t0002 a0010c0041t0002	a0002c0002t0002g0131 a0003c0003t0001g0248 a0003c0003t0002g0192 others(7): Show a0002c0002t0002g0131 a0003c0003t0001g0248 a0003c0003t0002g0192 a0003c0003t0002g0269 a0003c0003t0002g0284 a0004c0005t0001g0215 a0005c0013t0002g0288 a0005c0013t0002g0291 a0005c0013t0002g0292 a0010c0041t0002g0184	10	33	0.3030	97	c.49 others(108): Show c.4938_*4939insATATATTTATATGTATATAAATATAAATATTTAT ATTTATATGTATATAAATATAAATATATATATTTATATGTATATAAATTT ATATGTATATAAA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4160		chr13	TogoVar
FN3K_chr17_82730615_82756196	82738947	T T	TATATATA others(90): Show TATATATATATACGTGTATATATATATATACGTATATATATATACGTATA TATACACGTGTATATATATATATATACACGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	342	0.0029	97	c.293 others(112): Show c.293+307_293+308insATATATATATACGTGTATATATATATATAC GTATATATATATACGTATATATACACGTGTATATATATATATATACACGT GTATATATATATATATA	FN3K	ENSG00000167363.14	transcript	ENST00000300784.8	protein_coding	2/5			chr17	TogoVar
FN3K_chr17_82730615_82756196	82738947	T T	TATATATA others(90): Show TATATATATATACGTGTATATATATATATACGTATATATATATACGTATA TATATACGTGTATATATATATATATACACGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03490.hp2 HG03492.hp2 others(10): Show HG03017.hp2 HG03490.hp2 HG03492.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp1 NA18612.hp2 NA18945.hp1 NA18960.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0024 a0001c0001t0001 a0001c0001t0003 a0001c0001t0024	a0001c0001t0001g0034 a0001c0001t0001g0115 a0001c0001t0003g0019 others(8): Show a0001c0001t0001g0034 a0001c0001t0001g0115 a0001c0001t0003g0019 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0116 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0024g0125	13	354	0.0367	97	c.293 others(112): Show c.293+307_293+308insATATATATATACGTGTATATATATATATAC GTATATATATATACGTATATATATACGTGTATATATATATATATACACGT GTATATATATATATATA	FN3K	ENSG00000167363.14	transcript	ENST00000300784.8	protein_coding	2/5			chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586254	C C	CGGGGGGG others(90): Show CGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCC GGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0291 a0001c0001t0036g0291	1	242	0.0041	97	c.157 others(112): Show c.1576+54_1576+55insGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTCAAAGGTGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586254	C C	CGGGGGGG others(90): Show CGGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC GGAGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0002 a0001c0028t0002	a0001c0028t0002g0009 a0001c0028t0002g0009	1	242	0.0041	97	c.157 others(112): Show c.1576+54_1576+55insGGGGGGGGAATGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTGGGCGGAGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586258	G G	GGGGGAAA others(90): Show GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0296 a0001c0001t0004g0296	1	285	0.0035	97	c.157 others(112): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTC AAAGGTGGGCAGTGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar

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