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
EDN3_chr20_59295611_59330992	59306595	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19030.hp2 HG02622.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0200 a0001c0001t0002g0183 a0001c0001t0002g0200	2	398	0.0050	20	c.365 others(37): Show c.365+4878_365+4897dupAAAAAAAAAAAAAAAAAAAA	EDN3	ENSG00000124205.18	transcript	ENST00000337938.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
EEA1_chr12_92765637_92934295	92891187	A A	ATTTATAT others(13): Show ATTTATATTTAATATAATGTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02897.hp1 others(1): Show HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03209.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0014 a0002c0004t0014	a0002c0004t0014g0240 a0002c0004t0014g0241 a0002c0004t0014g0242 others(1): Show a0002c0004t0014g0240 a0002c0004t0014g0241 a0002c0004t0014g0242 a0002c0004t0014g0243	4	244	0.0164	20	c.117 others(35): Show c.117+422_117+441dupGACATTATATTAAATATAAA	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	2/28			chr12	TogoVar
EEA1_chr12_92765637_92934295	92922959	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03139.hp1 HG03195.hp1 others(1): Show HG02451.hp1 HG03139.hp1 HG03195.hp1 NA20129.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0033 a0002c0004t0010 a0002c0004t0033	a0002c0004t0010g0231 a0002c0004t0010g0232 a0002c0004t0010g0234 others(1): Show a0002c0004t0010g0231 a0002c0004t0010g0232 a0002c0004t0010g0234 a0002c0004t0033g0233	4	244	0.0164	20	c.24+ others(35): Show c.24+6064_24+6083dupATTTTATTTTATTTTATTTT	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	1/28			chr12	TogoVar
EEF1A1_chr6_73510750_73526032	73524768	C C	CTATATAT others(13): Show CTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	424	0.0024	20	c.-38 others(31): Show c.-3819_-3800dupTATATATATATATATATATA	EEF1A1	ENSG00000156508.19	transcript	ENST00000309268.11	protein_coding		3737		chr6	TogoVar
EEF1AKMT1_chr13_20723731_20778961	20764879	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0016 a0001c0002t0003g0016	1	348	0.0029	20	c.-19 others(37): Show c.-19-7263_-19-7262insTGTGTGTGTGTGTGTGTGTG	EEF1AKMT1	ENSG00000150456.11	transcript	ENST00000382758.6	protein_coding	1/4			chr13	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01255.hp1 NA18942.hp1 others(4): Show HG00609.hp1 HG01255.hp1 NA18942.hp1 NA18951.hp2 NA18990.hp1 NA19000.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0226 a0001c0001t0002g0233 a0001c0001t0002g0265 others(4): Show a0001c0001t0002g0226 a0001c0001t0002g0233 a0001c0001t0002g0265 a0001c0001t0002g0280 a0001c0001t0002g0295 a0001c0001t0005g0260 a0001c0001t0005g0276	7	358	0.0196	20	c.400 others(37): Show c.400-3626_400-3625insATATTTTTTTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02451.hp1 NA18991.hp1 HG01175.hp1 HG02451.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0006g0128 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0006g0128	3	358	0.0084	20	c.400 others(37): Show c.400-3626_400-3625insATATATTTTTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769248	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0155 a0004c0004t0006g0155	1	358	0.0028	20	c.400 others(37): Show c.400-3641_400-3640insCATATATATATATATATATA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01884.hp2 NA18975.hp1 others(2): Show HG01169.hp1 HG01884.hp2 NA18975.hp1 NA18999.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0097 a0001c0001t0001g0166 a0001c0001t0001g0167 others(2): Show a0001c0001t0001g0097 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0004g0307	5	358	0.0140	20	c.291 others(35): Show c.291+332_291+333insTATATATATATATATATATA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124792504	G G	GTTTGTTT others(13): Show GTTTGTTTTGTTTTGTTTTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0351 a0001c0009t0002g0351	1	358	0.0028	20	c.-67 others(29): Show c.-672_-671insACAAAACAAAACAAAACAAA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding		618		chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124794812	C C	CATAAAAT others(13): Show CATAAAATAAAATAAAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02109.hp2 others(16): Show HG01884.hp2 HG02055.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02559.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03453.hp1 HG03579.hp2 NA18522.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0309 others(16): Show a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0320 a0001c0001t0004g0321 a0001c0001t0004g0322 a0001c0001t0004g0323 a0001c0001t0004g0324 a0001c0001t0004g0346 a0001c0001t0011g0319	19	358	0.0531	20	c.-29 others(31): Show c.-2980_-2979insTTTATTTTATTTTATTTTAT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding		2926		chr10	TogoVar
EEF1AKMT4_chr3_184244672_184263759	184263637	A A	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	378	0.0027	20	c.50 others(31): Show c.5062_*5063insAGAGAGAGAGAGAGAGAGAG	EEF1AKMT4	ENSG00000284753.2	transcript	ENST00000324557.9	protein_coding		4879		chr3	TogoVar
EEF1E1_chr6_8074395_8107548	8099046	T T	TAAAGTCC others(13): Show TAAAGTCCTATTGGCTTAAAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp2 HG00735.hp2 others(26): Show HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01192.hp2 HG01346.hp2 HG01358.hp2 HG02056.hp1 HG02080.hp1 HG04199.hp2 NA18612.hp2 NA18940.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18972.hp2 NA18975.hp2 NA18981.hp1 NA18983.hp1 NA19011.hp2 NA19054.hp1 NA19060.hp1 NA19066.hp1 NA19079.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0001g0043 others(17): Show a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324	29	442	0.0656	20	c.88- others(35): Show c.88-1599_88-1580dupGTTTAAGCCAATAGGACTTT	EEF1E1	ENSG00000124802.12	transcript	ENST00000379715.10	protein_coding	1/3			chr6	TogoVar
EEF1G_chr11_62554596_62578891	62558986	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	262	0.0038	20	c.69 others(29): Show c.692_*693insTTTTTTTTTTTTTTTTTTTT	EEF1G	ENSG00000254772.10	transcript	ENST00000329251.5	protein_coding		609		chr11	TogoVar
EEFSEC_chr3_128148481_128413646	128152959	C C	CCCCCCGC others(13): Show CCCCCCGCCCCCGTCTTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	272	0.0037	20	c.-54 others(29): Show c.-549_-548insCCCCCGCCCCCGTCTTCCCG	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		521		chr3	TogoVar
EEIG1_chr9_127935582_127985989	127985663	T T	TTATATAT others(13): Show TTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01928.hp2 HG03688.hp2 HG01109.hp1 HG01928.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0020g0166 a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0020g0166	3	342	0.0088	20	c.-55 others(31): Show c.-5527_-5526insTATATATATATATATATATA	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4675		chr9	TogoVar
EEIG1_chr9_127935582_127985989	127985663	T T	TTTTATAT others(13): Show TTTTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	342	0.0029	20	c.-55 others(31): Show c.-5527_-5526insTATATATATATATATATAAA	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4675		chr9	TogoVar
EEIG2_chr1_108555100_108644322	108579770	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0037 a0001c0001t0028g0037	1	272	0.0037	20	c.137 others(39): Show c.137+19206_137+19207insAGAGAGAGAGAGAGAGAGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01952.hp2 HG03942.hp2 others(1): Show HG01169.hp2 HG01952.hp2 HG03942.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0072 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0072 a0001c0001t0001g0129	4	272	0.0147	20	c.137 others(39): Show c.137+19212_137+19231dupGAGAGAGAGAGAGAGAGAGA	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGTGAGAG others(13): Show TGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG04228.hp1 HG02015.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0114 a0001c0001t0006g0120 a0001c0001t0006g0114 a0001c0001t0006g0120	2	272	0.0074	20	c.137 others(39): Show c.137+19208_137+19209insTGAGAGAGAGAGAGAGAGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGTGTGAG others(13): Show TGTGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA19060.hp1 HG02647.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0230 a0001c0001t0008g0025 a0001c0001t0002g0230 a0001c0001t0008g0025	2	272	0.0074	20	c.137 others(39): Show c.137+19208_137+19209insTGTGAGAGAGAGAGAGAGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGTGTGTG others(13): Show TGTGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0175 a0001c0001t0016g0175	1	272	0.0037	20	c.137 others(39): Show c.137+19208_137+19209insTGTGTGAGAGAGAGAGAGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGAGAGA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0168 a0001c0001t0005g0168	1	272	0.0037	20	c.137 others(39): Show c.137+19208_137+19209insTGTGTGTGTGTGTGAGAGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEPD1_chr7_36148254_36306538	36151852	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(53): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01516.hp1 HG01943.hp1 HG02027.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02717.hp1 HG02922.hp2 HG02976.hp1 HG03239.hp1 HG03491.hp1 HG03654.hp2 HG03710.hp2 NA18612.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18951.hp2 NA18957.hp2 NA18966.hp2 NA18980.hp2 NA18982.hp2 NA18988.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19005.hp1 NA19012.hp2 NA19056.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19090.hp2 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0012 others(3): Show a0001c0001 a0001c0004 a0001c0012 a0002c0003 a0002c0011 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0014 a0001c0001t0023 a0001c0001t0033 a0001c0001t0055 a0001c0004t0006 a0001c0004t0058 a0001c0012t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0059 a0002c0011t0011 a0003c0002t0034	a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0115 others(53): Show a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0338 a0001c0001t0002g0067 a0001c0001t0002g0110 a0001c0001t0002g0124 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0161 a0001c0001t0002g0187 a0001c0001t0002g0302 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0003g0085 a0001c0001t0003g0114 a0001c0001t0003g0125 a0001c0001t0003g0157 a0001c0001t0003g0170 a0001c0001t0003g0299 a0001c0001t0003g0337 a0001c0001t0004g0191 a0001c0001t0010g0108 a0001c0001t0010g0287 a0001c0001t0014g0078 a0001c0001t0014g0090 a0001c0001t0023g0087 a0001c0001t0033g0065 a0001c0001t0055g0154 a0001c0004t0006g0107 a0001c0004t0058g0314 a0001c0012t0001g0321 a0002c0003t0002g0335 a0002c0003t0003g0137 a0002c0003t0059g0145 a0002c0011t0011g0061 a0003c0002t0034g0142	56	346	0.1619	20	c.-20 others(31): Show c.-2015_-2014insTTTTTTTTTTTTTTTTTTTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding		1401		chr7	TogoVar
EEPD1_chr7_36148254_36306538	36165586	A A	AATTTATT others(13): Show AATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00738.hp2 HG01070.hp2 others(4): Show HG00423.hp1 HG00738.hp2 HG01070.hp2 HG01099.hp2 HG01258.hp1 NA18991.hp2 NA19003.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0026 a0003c0002t0017 a0003c0002t0040	a0001c0001t0001g0242 a0001c0001t0005g0039 a0001c0001t0005g0040 others(4): Show a0001c0001t0001g0242 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0007g0016 a0001c0001t0026g0014 a0003c0002t0017g0017 a0003c0002t0040g0041	7	346	0.0202	20	c.878 others(39): Show c.878+10397_878+10416dupATTTATTTATTTATTTATTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36188187	G G	GTCTCTTT others(13): Show GTCTCTTTCTCTATCTTACTC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0019 a0001c0004t0011g0019	1	346	0.0029	20	c.878 others(39): Show c.878+32997_878+33016dupATCTTACTCTCTCTTTCTCT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36248994	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA20752.hp1 NA19009.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0074 a0001c0001t0003g0091 a0001c0001t0002g0074 a0001c0001t0003g0091	2	346	0.0058	20	c.930 others(37): Show c.930+9980_930+9999dupCACACACACACACACACACA	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB11_chr14_89789669_89959730	89835585	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19007.hp2 HG01109.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0068 a0001c0001t0018g0048 a0001c0001t0001g0068 a0001c0001t0018g0048	2	284	0.0070	20	c.411 others(39): Show c.411-38281_411-38262dupACACACACACACACACACAC	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89842637	G G	GATATGAT others(13): Show GATATGATATGATATGATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	284	0.0035	20	c.411 others(39): Show c.411-45314_411-45313insTATATCATATCATATCATAT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89881452	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	284	0.0035	20	c.410 others(39): Show c.410+50088_410+50089insATATATATATATATATATAT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89955819	C C	CGGGCTTT others(13): Show CGGGCTTTAGGACCCAGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01109.hp1 others(16): Show HG00735.hp2 HG01081.hp2 HG01109.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp1 NA18906.hp1 NA19030.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 others(1): Show a0001c0001 a0001c0002 a0002c0005 a0002c0007	a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 others(11): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0027 a0002c0005t0002 a0002c0005t0003 a0002c0005t0004 a0002c0005t0006 a0002c0005t0007 a0002c0005t0009 a0002c0005t0029 a0002c0007t0004 a0002c0007t0009 a0002c0007t0017	a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 others(16): Show a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0002t0001g0169 a0001c0002t0002g0168 a0001c0002t0027g0170 a0002c0005t0002g0250 a0002c0005t0003g0253 a0002c0005t0003g0257 a0002c0005t0004g0249 a0002c0005t0006g0259 a0002c0005t0007g0251 a0002c0005t0007g0252 a0002c0005t0009g0254 a0002c0005t0029g0260 a0002c0007t0004g0261 a0002c0007t0009g0255 a0002c0007t0017g0256	19	284	0.0669	20	c.-11 others(31): Show c.-1179_-1160dupACCGCTGGGTCCTAAAGCCC	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding		1090		chr14	TogoVar
EFCAB13_chr17_47318955_47446312	47351279	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0315 a0002c0002t0003g0315	1	356	0.0028	20	c.661 others(37): Show c.661+3335_661+3354dupTGTGTGTGTGTGTGTGTGTG	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47351304	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0057 a0002c0002t0003g0057	1	356	0.0028	20	c.661 others(37): Show c.661+3354_661+3355insTGTGTGTGTGTGTGTGTGCG	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47384449	G G	GTATTAAG others(13): Show GTATTAAGAAAGTTTTTCTTA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0064 a0006c0007t0001g0064	1	356	0.0028	20	c.158 others(39): Show c.1582+5214_1582+5233dupTTATATTAAGAAAGTTTTTC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47390914	G G	GTCTATCT others(13): Show GTCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	356	0.0028	20	c.158 others(37): Show c.1583-508_1583-507insATCTATCTATCTATCTATCT	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47424874	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp1 HG01123.hp1 others(7): Show HG00741.hp1 HG01074.hp1 HG01123.hp1 HG01361.hp1 HG01884.hp2 HG02004.hp2 HG02698.hp2 HG02738.hp2 NA18941.hp1 NA18955.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0002c0002t0003 a0005c0005t0001 others(2): Show a0001c0001t0001 a0002c0002t0003 a0005c0005t0001 a0005c0005t0002 a0005c0005t0003	a0001c0001t0001g0052 a0001c0001t0001g0078 a0001c0001t0001g0080 others(7): Show a0001c0001t0001g0052 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0133 a0002c0002t0003g0324 a0002c0002t0003g0328 a0005c0005t0001g0274 a0005c0005t0002g0238 a0005c0005t0003g0118	10	356	0.0281	20	c.249 others(39): Show c.2495-4937_2495-4918dupTTTTTTTTTTTTTTTTTTTT	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47424896	T T	TTTTTTTT others(13): Show TTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0006 a0003c0008t0001g0006	1	356	0.0028	20	c.249 others(39): Show c.2495-4918_2495-4917insTTTTTTTTTTTTTTTGTTTT	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47441998	C C	CTTTTATT others(13): Show CTTTTATTTTATTTTATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02135.hp2 HG03471.hp1 others(4): Show HG00423.hp2 HG02135.hp2 HG03471.hp1 NA18965.hp2 NA18997.hp1 NA19005.hp2 NA19065.hp1	a0006 a0016 a0006 a0016	a0006c0007 a0016c0020 a0006c0007 a0016c0020	a0006c0007t0001 a0006c0007t0010 a0016c0020t0001 a0006c0007t0001 a0006c0007t0010 a0016c0020t0001	a0006c0007t0001g0060 a0006c0007t0001g0063 a0006c0007t0001g0339 others(4): Show a0006c0007t0001g0060 a0006c0007t0001g0063 a0006c0007t0001g0339 a0006c0007t0001g0340 a0006c0007t0001g0341 a0006c0007t0010g0061 a0016c0020t0001g0346	7	356	0.0197	20	c.12 others(31): Show c.1284_*1285insTTTTATTTTATTTTATTTTA	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding		687		chr17	TogoVar
EFCAB14_chr1_46670159_46724114	46700986	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0099 a0001c0001t0005g0099	1	374	0.0027	20	c.481 others(37): Show c.481-4357_481-4338dupACACACACACACACACACAC	EFCAB14	ENSG00000159658.15	transcript	ENST00000371933.8	protein_coding	3/10			chr1	TogoVar
EFCAB2_chr1_244964682_245092837	245088315	G G	GACACACA others(13): Show GACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	290	0.0035	20	c.95 others(29): Show c.955_*956insACACACACACACACACACAC	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding		479		chr1	TogoVar
EFCAB5_chr17_29936634_30113452	29970663	C C	CACACACA others(13): Show CACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp2 HG01516.hp1 others(3): Show HG00741.hp1 HG01243.hp2 HG01516.hp1 HG01517.hp2 HG03041.hp2 HG03486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0140 a0003c0003t0002g0141 a0003c0003t0002g0142 others(3): Show a0003c0003t0002g0140 a0003c0003t0002g0141 a0003c0003t0002g0142 a0003c0003t0002g0143 a0003c0003t0002g0144 a0003c0003t0002g0145	6	248	0.0242	20	c.767 others(37): Show c.767+1301_767+1302insCACACACACACACATACACA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30041210	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03098.hp1 HG03516.hp1 HG02451.hp1 HG03098.hp1 HG03516.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0007 a0003c0003 a0005c0007	a0003c0003t0002 a0005c0007t0002 a0003c0003t0002 a0005c0007t0002	a0003c0003t0002g0215 a0005c0007t0002g0129 a0005c0007t0002g0130 a0003c0003t0002g0215 a0005c0007t0002g0129 a0005c0007t0002g0130	3	248	0.0121	20	c.120 others(39): Show c.1200+6829_1200+6848dupGGAAGGAAGGAAGGAAGGAA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30096677	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0002 a0014c0021t0002	a0014c0021t0002g0012 a0014c0021t0002g0012	1	248	0.0040	20	c.432 others(39): Show c.4321+3742_4321+3743insATATATATATATATTTTTTT	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43548539	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	290	0.0035	20	c.364 others(39): Show c.3648+6310_3648+6329dupTTTTTTTTTTTTTTTTTTTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	27/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43579385	C C	CGCAGGCA others(13): Show CGCAGGCATCATTCCCTGCAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02055.hp1 HG02293.hp2 others(21): Show HG01175.hp2 HG02055.hp1 HG02293.hp2 HG02572.hp2 HG02615.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03139.hp1 HG03209.hp1 HG04228.hp2 HG06807.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18967.hp1 NA19011.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0019 others(2): Show a0001 a0002 a0019 a0020 a0032	a0001c0001 a0001c0027 a0002c0002 others(3): Show a0001c0001 a0001c0027 a0002c0002 a0019c0031 a0020c0025 a0032c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0027t0001 a0002c0002t0001 a0019c0031t0002 a0020c0025t0002 a0032c0022t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 others(21): Show a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0285 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0027t0001g0075 a0002c0002t0001g0123 a0019c0031t0002g0012 a0020c0025t0002g0011 a0032c0022t0001g0237	24	290	0.0828	20	c.322 others(39): Show c.3228+1059_3228+1078dupATGCAGGGAATGATGCCTGC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	25/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43586340	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03453.hp2 HG02723.hp1 HG03453.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0157 a0007c0007t0001g0158 a0007c0007t0001g0157 a0007c0007t0001g0158	2	290	0.0069	20	c.303 others(39): Show c.3032+3714_3032+3733dupAAAAAAAAAAAAAAAAAAAA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	24/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43618143	G G	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02615.hp2 HG02698.hp1 others(5): Show HG02004.hp1 HG02615.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp2 HG03139.hp1 HG03195.hp1 HG03579.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0002c0021 others(1): Show a0001c0001 a0002c0002 a0002c0021 a0006c0006	a0001c0001t0002 a0002c0002t0001 a0002c0021t0001 others(1): Show a0001c0001t0002 a0002c0002t0001 a0002c0021t0001 a0006c0006t0001	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0013 others(5): Show a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0013 a0002c0002t0001g0120 a0002c0002t0001g0241 a0002c0002t0001g0263 a0002c0021t0001g0250 a0006c0006t0001g0280	8	290	0.0276	20	c.246 others(39): Show c.2466-2241_2466-2222dupTCCTTCCTTCCTTCCTTCCT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43618165	G G	GGAAGGAA others(13): Show GGAAGGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03139.hp2 HG02818.hp1 HG03139.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0014 a0001c0001 a0007c0014	a0001c0001t0001 a0007c0014t0002 a0001c0001t0001 a0007c0014t0002	a0001c0001t0001g0236 a0007c0014t0002g0018 a0001c0001t0001g0236 a0007c0014t0002g0018	2	290	0.0069	20	c.246 others(39): Show c.2466-2244_2466-2243insTTTCTTTCTTTCTTTCCTTC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43618165	G G	GGAAGGAA others(13): Show GGAAGGAAGGAAGGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01934.hp2 HG02004.hp2 others(11): Show HG00621.hp1 HG01934.hp2 HG02004.hp2 HG02040.hp1 HG02145.hp2 HG02698.hp2 HG03654.hp1 NA18950.hp1 NA18957.hp1 NA19000.hp2 NA19064.hp1 NA19070.hp2 NA19081.hp1 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0043 others(11): Show a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0190 a0001c0001t0001g0198 a0001c0001t0001g0201 a0002c0002t0001g0140	14	290	0.0483	20	c.246 others(39): Show c.2466-2244_2466-2243insTTTCTTTCCTTCCTTCCTTC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43618165	G G	GGAAGGAA others(13): Show GGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01255.hp2 NA18939.hp1 others(1): Show HG01169.hp2 HG01255.hp2 NA18939.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0193 others(1): Show a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0193 a0001c0001t0001g0195	4	290	0.0138	20	c.246 others(39): Show c.2466-2244_2466-2243insTTTCCTTCCTTCCTTCCTTC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar

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