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
DYNC2I2_chr9_128628653_128661847	128655335	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19088.hp1 HG00609.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0183 a0001c0001t0001g0184	2	368	0.0054	24	c.186 others(41): Show c.186+1182_186+1205dupTTTTTTTTTTTTTTTTTTTTTTTT	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNLT1_chr6_158631474_158649743	158636051	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 NA18977.hp1 NA19006.hp1 HG03927.hp1 NA18977.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0001g0001 a0001c0001t0001g0039	3	396	0.0076	24	c.77 others(33): Show c.775_*776insTATATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		422		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18952.hp2 NA18951.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	396	0.0051	24	c.75 others(33): Show c.757_*758insAATATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	24	c.75 others(33): Show c.757_*758insAAAATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	24	c.75 others(33): Show c.757_*758insAAAAAATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(17): Show ATATATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02083.hp2 HG01891.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	396	0.0051	24	c.75 others(33): Show c.757_*758insAAAAAAAAAATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(17): Show ATATATATATATTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA19012.hp1 NA18993.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	396	0.0051	24	c.75 others(33): Show c.757_*758insAAAAAAAAAAAAAATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT2B_chr3_196286219_196323240	196317389	T T	TGTGTGTT others(17): Show TGTGTGTTGTGTGGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp2 HG00741.hp1 others(9): Show HG00140.hp1 HG00621.hp2 HG00741.hp1 HG01256.hp1 HG03710.hp1 HG03834.hp1 HG04184.hp1 NA18945.hp2 NA18979.hp2 NA19070.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0036 a0001c0001t0001g0164 a0001c0001t0001g0165 others(8): Show a0001c0001t0001g0036 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0003c0002t0001g0046	12	330	0.0364	24	c.113 others(39): Show c.113+650_113+651insCCACACACACACCACACAACACAC	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
DYNLT2B_chr3_196286219_196323240	196317389	T T	TGTGTGTT others(17): Show TGTGTGTTGTGTGGTTTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19030.hp1 NA20129.hp1 HG02630.hp2 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158	3	330	0.0091	24	c.113 others(39): Show c.113+650_113+651insCCACACACAAACCACACAACACAC	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
DYNLT2B_chr3_196286219_196323240	196317392	G G	GTGTTGTG others(17): Show GTGTTGTGTGGTGTGTGTGTGGGTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp2 HG02818.hp1 others(2): Show HG02109.hp1 HG02486.hp2 HG02818.hp1 HG03195.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	5	330	0.0152	24	c.113 others(39): Show c.113+647_113+648insTACCCACACACACACCACACAACA	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
DYRK1A_chr21_37361773_37531358	37417506	C C	CTTTTCTT others(17): Show CTTTTCTTTTTCTTTTTCTTTTTCT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02273.hp1 HG02895.hp1 others(3): Show HG02004.hp1 HG02273.hp1 HG02895.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0076 others(3): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0076 a0001c0001t0121 a0001c0001t0123 a0001c0001t0136	a0001c0001t0002g0180 a0001c0001t0017g0204 a0001c0001t0076g0205 others(3): Show a0001c0001t0002g0180 a0001c0001t0017g0204 a0001c0001t0076g0205 a0001c0001t0121g0195 a0001c0001t0123g0005 a0001c0001t0136g0214	6	350	0.0171	24	c.-76 others(41): Show c.-76-2788_-76-2765dupCTTTTTCTTTTTCTTTTTCTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37440130	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02293.hp2 NA18968.hp1 others(3): Show HG02056.hp1 HG02293.hp2 NA18968.hp1 NA18977.hp2 NA18980.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0064 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0064 a0001c0001t0166	a0001c0001t0001g0050 a0001c0001t0001g0072 a0001c0001t0001g0073 others(3): Show a0001c0001t0001g0050 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0004g0221 a0001c0001t0064g0074 a0001c0001t0166g0032	6	350	0.0171	24	c.10+ others(41): Show c.10+19769_10+19770insTTTTTTTTTTTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37457037	C C	CTTACTTA others(17): Show CTTACTTACTTACTTATTTATTTAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0122 a0001c0001t0122	a0001c0001t0122g0312 a0001c0001t0122g0312	1	350	0.0029	24	c.11- others(41): Show c.11-15644_11-15643insCTTACTTACTTATTTATTTATTTA	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479600	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	350	0.0029	24	c.301 others(41): Show c.301-1033_301-1032insTTTTTTTTTTTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK4_chr12_4557208_4618875	4575298	A A	ATTGTGTG others(17): Show ATTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00741.hp2 others(24): Show HG00438.hp2 HG00621.hp2 HG00741.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01358.hp2 HG01952.hp2 HG02027.hp2 HG02040.hp1 HG02148.hp1 HG02486.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG02897.hp2 HG02922.hp1 HG03195.hp2 HG03540.hp1 NA18522.hp1 NA18977.hp1 NA18985.hp1 NA18992.hp2 NA19043.hp1 NA19082.hp1 NA20905.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0001c0003 a0001c0008 others(4): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0001c0014 a0003c0015 a0011c0028	a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 a0001c0009t0001 a0001c0014t0001 a0003c0015t0001 a0011c0028t0001	a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0083 others(22): Show a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0240 a0001c0001t0001g0252 a0001c0001t0001g0310 a0001c0001t0001g0318 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0383 a0001c0003t0001g0086 a0001c0003t0001g0108 a0001c0003t0001g0253 a0001c0003t0001g0254 a0001c0008t0001g0228 a0001c0008t0001g0347 a0001c0009t0001g0250 a0001c0009t0001g0362 a0001c0014t0001g0113 a0001c0014t0001g0118 a0001c0014t0001g0214 a0003c0015t0001g0017 a0011c0028t0001g0082	27	414	0.0652	24	c.132 others(41): Show c.132+7250_132+7251insTTGTGTGTGTGTGTGTGTGTGTGT	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	2/14			chr12	TogoVar
DYRK4_chr12_4557208_4618875	4575298	A A	ATTTTGTG others(17): Show ATTTTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	414	0.0024	24	c.132 others(41): Show c.132+7250_132+7251insTTTTGTGTGTGTGTGTGTGTGTGT	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	2/14			chr12	TogoVar
DYSF_chr2_71448561_71691763	71481722	C C	CCATCCAT others(17): Show CCATCCATCCATCCATCCATCCATT	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18948.hp2 NA18969.hp2 others(4): Show HG00735.hp1 NA18948.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0026t0001	a0001c0001t0001g0043 a0001c0001t0001g0079 a0001c0001t0002g0156 others(4): Show a0001c0001t0001g0043 a0001c0001t0001g0079 a0001c0001t0002g0156 a0001c0001t0002g0179 a0001c0001t0003g0099 a0001c0026t0001g0048 a0001c0026t0001g0049	7	192	0.0365	24	c.145 others(39): Show c.145-150_145-149insCCATCCATCCATCCATTCATCCAT	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	2/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71617879	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGGTAGAGGTGGGGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp2 HG00544.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0058 a0001c0002t0002g0174 a0001c0002t0001g0058 a0001c0002t0002g0174	2	192	0.0104	24	c.441 others(43): Show c.4410+4478_4410+4479insTGGTAGAGGTGGGGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71481722	C C	CCATCCAT others(17): Show CCATCCATCCATCCATCCATCCATT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02257.hp2 NA18948.hp1 others(8): Show HG00735.hp1 HG02257.hp2 NA18948.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18979.hp1 NA19010.hp2 NA19043.hp1 NA20300.hp1	a0001 a0031 a0001 a0031	a0001c0001 a0001c0008 a0001c0026 others(2): Show a0001c0001 a0001c0008 a0001c0026 a0001c0085 a0031c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0008t0001 a0001c0008t0002 a0001c0026t0001 a0001c0085t0001 a0031c0027t0007	a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0002g0154 others(8): Show a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0003g0059 a0001c0008t0001g0109 a0001c0008t0002g0157 a0001c0026t0001g0095 a0001c0026t0001g0097 a0001c0085t0001g0038 a0031c0027t0007g0159	11	208	0.0529	24	c.148 others(39): Show c.148-150_148-149insCCATCCATCCATCCATTCATCCAT	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	2/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71617879	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGGTAGAGGTGGGGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp2 HG00544.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0099 a0001c0002t0002g0182 a0001c0002t0001g0099 a0001c0002t0002g0182	2	208	0.0096	24	c.446 others(43): Show c.4465-2659_4465-2658insTGGTAGAGGTGGGGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DZIP3_chr3_108584722_108699840	108622880	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18957.hp1 NA18971.hp1 others(2): Show HG01109.hp2 NA18957.hp1 NA18971.hp1 NA19000.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0081 a0001c0001t0001g0082 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084	5	318	0.0157	24	c.376 others(41): Show c.376-1563_376-1562insCTCTCTCTCTCTCTCTCTCTCTGT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108622880	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTGTGTG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0230 a0001c0002t0001g0230	1	318	0.0031	24	c.376 others(41): Show c.376-1563_376-1562insCTCTCTCTCTCTCTCTCTGTGTGT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631054	C C	CACACACA others(17): Show CACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0261 a0001c0002t0001g0261	1	318	0.0031	24	c.696 others(41): Show c.696+1880_696+1881insACACACACACACACACACACATAC	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(17): Show ACACACACACACACACACACACTCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0241 a0001c0002t0001g0241	1	318	0.0031	24	c.696 others(41): Show c.696+1880_696+1881insACACACACACACACACACACTCTC	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(17): Show ACACACACACACACATACACTCTCT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03927.hp1 HG02683.hp2 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0231 a0001c0002t0001g0245 a0001c0002t0001g0231 a0001c0002t0001g0245	2	318	0.0063	24	c.696 others(41): Show c.696+1880_696+1881insACACACACACACATACACTCTCTC	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(17): Show ACACACACACACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0250 a0001c0002t0001g0250	1	318	0.0031	24	c.696 others(41): Show c.696+1880_696+1881insACACACACACACTCTCTCTCTCTC	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(17): Show ACACACACACATACACTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03834.hp2 HG02976.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0304 a0001c0002t0001g0238 a0001c0001t0003g0304 a0001c0002t0001g0238	2	318	0.0063	24	c.696 others(41): Show c.696+1880_696+1881insACACACACATACACTCTCTCTCTC	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(17): Show ACACACACACTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA19077.hp1 NA18986.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0088 a0001c0001t0001g0044 a0001c0001t0001g0088	2	318	0.0063	24	c.696 others(41): Show c.696+1880_696+1881insACACACACTCTCTCTCTCTCTCTC	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(17): Show ACACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0112 a0003c0005t0005g0112	1	318	0.0031	24	c.696 others(41): Show c.696+1880_696+1881insACACACTCTCTCTCTCTCTCTCTC	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(17): Show ACACACTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03209.hp1 HG00733.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0184 a0001c0001t0001g0059 a0001c0001t0001g0184	2	318	0.0063	24	c.696 others(41): Show c.696+1880_696+1881insACACTCTCTCTCTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
E2F5_chr8_85172154_85219518	85180511	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0199 a0001c0002t0001g0199	1	336	0.0030	24	c.234 others(41): Show c.234+2878_234+2901dupATATATATATATATATATATATAT	E2F5	ENSG00000133740.11	transcript	ENST00000416274.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
E2F6_chr2_11439375_11471161	11466855	G G	GCCTGCCT others(17): Show GCCTGCCTGCCTGCCTGCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG03130.hp2 NA18906.hp2 HG02818.hp2 HG03130.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0007 a0001c0001t0003g0182 a0001c0001t0008g0057 a0001c0001t0003g0007 a0001c0001t0003g0182 a0001c0001t0008g0057	3	366	0.0082	24	c.-97 others(33): Show c.-977_-976insAAGGAAGGCAGGCAGGCAGGCAGG	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11466855	G G	GCCTGCCT others(17): Show GCCTGCCTGCCTGCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG06807.hp2 HG02622.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0058 a0001c0001t0008g0059 a0001c0001t0008g0058 a0001c0001t0008g0059	2	366	0.0055	24	c.-97 others(33): Show c.-977_-976insAAGGAAGGAAGGCAGGCAGGCAGG	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11466855	G G	GCCTGCCT others(17): Show GCCTGCCTGCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 NA20805.hp2 HG01167.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0055 a0001c0001t0010g0056 a0001c0001t0010g0055 a0001c0001t0010g0056	2	366	0.0055	24	c.-97 others(33): Show c.-977_-976insAAGGAAGGAAGGAAGGCAGGCAGG	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0155 a0001c0001t0012g0155	1	366	0.0027	24	c.-29 others(35): Show c.-2977_-2976insATATATATATATTTTTTTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18980.hp1 NA19082.hp2 NA18944.hp2 NA18980.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0168 a0001c0001t0002g0011 a0001c0001t0002g0168	3	366	0.0082	24	c.-29 others(35): Show c.-2977_-2976insATATATATATATATTTTTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
EBF1_chr5_158690920_159104916	158883350	A A	ATATATAT others(17): Show ATATATATATACACATACATACATG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02965.hp1 HG03098.hp1 others(1): Show HG02257.hp1 HG02965.hp1 HG03098.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0032 a0001c0001t0052 others(1): Show a0001c0001t0011 a0001c0001t0032 a0001c0001t0052 a0001c0002t0002	a0001c0001t0011g0120 a0001c0001t0032g0006 a0001c0001t0052g0045 others(1): Show a0001c0001t0011g0120 a0001c0001t0032g0006 a0001c0001t0052g0045 a0001c0002t0002g0173	4	196	0.0204	24	c.555 others(43): Show c.555-43241_555-43240insCATGTATGTATGTGTATATATATA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF2_chr8_25836725_26050413	25838165	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0008 a0001c0005t0010g0008	1	220	0.0046	24	c.64 others(35): Show c.6443_*6444insTTTTTTTTTTTTTTTTTTTTTTTT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding		3559		chr8	TogoVar
EBI3_chr19_4224523_4242528	4236518	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18971.hp1 NA18952.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0175 a0001c0001t0001g0078 a0001c0001t0001g0175	2	438	0.0046	24	c.538 others(39): Show c.538-416_538-393dupAAAAAAAAAAAAAAAAAAAAAAAA	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
EBLN2_chr3_73056659_73068337	73066239	C C	CATACATA others(17): Show CATACATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	1	428	0.0023	24	c.33 others(35): Show c.3339_*3340insATACATATATATATATATATATAT	EBLN2	ENSG00000255423.1	transcript	ENST00000533473.1	protein_coding		2903		chr3	TogoVar
EBPL_chr13_49655674_49696486	49673962	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	410	0.0024	24	c.172 others(41): Show c.172-4140_172-4117dupGTGTGTGTGTGTGTGTGTGTGTGT	EBPL	ENSG00000123179.14	transcript	ENST00000242827.11	protein_coding	1/3			chr13	TogoVar
ECHDC1_chr6_127283712_127348609	127342777	C C	CCCTGTAT others(17): Show CCCTGTATGTGTGCGCAGCGTTAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	358	0.0028	24	c.-3+ others(37): Show c.-3+535_-3+558dupTTTAACGCTGCGCACACATACAGG	ECHDC1	ENSG00000093144.19	transcript	ENST00000454859.8	protein_coding	1/5			chr6	TogoVar
ECHS1_chr10_133357485_133378354	133369210	G G	GCTGGGCA others(17): Show GCTGGGCAAACATCCTGTAAAGGAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0105 a0007c0012t0001g0105	1	354	0.0028	24	c.415 others(39): Show c.415-189_415-188insGTCCTTTACAGGATGTTTGCCCAG	ECHS1	ENSG00000127884.5	transcript	ENST00000368547.4	protein_coding	3/7			chr10	TogoVar
ECHS1_chr10_133357485_133378354	133373698	C C	CGCCCGCC others(17): Show CGCCCGCCTGCCCGCCTGCCCGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02723.hp1 HG03041.hp1 others(3): Show HG01109.hp1 HG02723.hp1 HG03041.hp1 NA18969.hp1 NA18972.hp1 NA18973.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0005 a0002c0002 a0003c0003 a0004c0005	a0002c0002t0001 a0003c0003t0002 a0004c0005t0003 a0002c0002t0001 a0003c0003t0002 a0004c0005t0003	a0002c0002t0001g0003 a0002c0002t0001g0151 a0002c0002t0001g0156 others(3): Show a0002c0002t0001g0003 a0002c0002t0001g0151 a0002c0002t0001g0156 a0003c0003t0002g0032 a0004c0005t0003g0063 a0004c0005t0003g0065	6	354	0.0170	24	c.-36 others(33): Show c.-366_-365insAGGCGGGCAGGCGGGCAGGCGGGC	ECHS1	ENSG00000127884.5	transcript	ENST00000368547.4	protein_coding		345		chr10	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19056.hp2 HG02615.hp2 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0252 a0002c0007t0001g0326 a0001c0001t0001g0252 a0002c0007t0001g0326	2	400	0.0050	24	c.-28 others(41): Show c.-28+2604_-28+2605insATATATATATATATATATATTTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0324 a0002c0007t0001g0324	1	400	0.0025	24	c.-28 others(41): Show c.-28+2604_-28+2605insATATATATATATATATATATATTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0323 a0002c0007t0001g0323	1	400	0.0025	24	c.-28 others(41): Show c.-28+2581_-28+2604dupATATATATATATATATATATATAT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111443473	A A	ACTCCTGA others(17): Show ACTCCTGACCTCATGATCAGCTGGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00597.hp1 others(54): Show HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00673.hp1 HG01346.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02083.hp1 HG02135.hp2 HG02165.hp1 HG03239.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18952.hp2 NA18956.hp1 NA18961.hp2 NA18962.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18981.hp1 NA18983.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19090.hp1 NA20805.hp1	a0002 a0003 a0009 others(1): Show a0002 a0003 a0009 a0010	a0002c0003 a0003c0005 a0009c0016 others(1): Show a0002c0003 a0003c0005 a0009c0016 a0010c0017	a0002c0003t0001 a0002c0003t0003 a0003c0005t0002 others(2): Show a0002c0003t0001 a0002c0003t0003 a0003c0005t0002 a0009c0016t0001 a0010c0017t0002	a0002c0003t0001g0006 a0002c0003t0001g0251 a0002c0003t0001g0264 others(54): Show a0002c0003t0001g0006 a0002c0003t0001g0251 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0266 a0002c0003t0001g0267 a0002c0003t0001g0268 a0002c0003t0001g0269 a0002c0003t0001g0270 a0002c0003t0001g0272 a0002c0003t0001g0273 a0002c0003t0001g0279 a0002c0003t0001g0280 a0002c0003t0001g0281 a0002c0003t0001g0282 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0287 a0002c0003t0001g0288 a0002c0003t0001g0289 a0002c0003t0001g0295 a0002c0003t0001g0296 a0002c0003t0001g0301 a0002c0003t0001g0302 a0002c0003t0001g0303 a0002c0003t0001g0304 a0002c0003t0003g0271 a0002c0003t0003g0278 a0002c0003t0003g0290 a0002c0003t0003g0291 a0002c0003t0003g0292 a0002c0003t0003g0293 a0002c0003t0003g0294 a0003c0005t0002g0252 a0003c0005t0002g0253 a0003c0005t0002g0254 a0003c0005t0002g0255 a0003c0005t0002g0256 a0003c0005t0002g0257 a0003c0005t0002g0258 a0003c0005t0002g0259 a0003c0005t0002g0260 a0003c0005t0002g0261 a0003c0005t0002g0262 a0003c0005t0002g0263 a0003c0005t0002g0274 a0003c0005t0002g0275 a0003c0005t0002g0276 a0003c0005t0002g0277 a0003c0005t0002g0297 a0003c0005t0002g0298 a0003c0005t0002g0299 a0003c0005t0002g0300 a0009c0016t0001g0008 a0010c0017t0002g0250	57	354	0.1610	24	c.270 others(39): Show c.270+881_270+904dupGCCAGCTGATCATGAGGTCAGGAG	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	4/49			chr9	TogoVar
ECSCR_chr5_139443560_139467743	139446441	C C	CTCCTTCC others(17): Show CTCCTTCCTTCCTTCCTTCCTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	369	0.0027	24	c.24 others(35): Show c.2458_*2459insAGGAAGGAAGGAAGGAAGGAAGGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2118		chr5	TogoVar
ECT2L_chr6_138791087_138909070	138873872	C C	CTCTGTGT others(17): Show CTCTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0262 a0001c0001t0029g0262	1	326	0.0031	24	c.157 others(43): Show c.1579-2599_1579-2598insCTGTGTGTGTGTGTGTGTGTGTGT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr6	TogoVar

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