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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
EHBP1_chr2_62700713_63051487	62773850	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03130.hp1 NA18906.hp1 others(3): Show HG02717.hp2 HG03130.hp1 NA18906.hp1 NA19077.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0122 a0001c0003t0001g0186 a0001c0003t0001g0187 others(3): Show a0001c0001t0001g0122 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190	6	34	0.1765	-15	c.312 others(32): Show c.312+2479_312+2493delAAAAAAAAAAAAAAA		EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	5/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	62820733	GTATAATA others(8): Show GTATAATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	195	0.0051	-15	c.313 others(32): Show c.313-5349_313-5335delATATATATATATATA		EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	5/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	62895278	TATCATCA others(8): Show TATCATCATCATCATC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0022 a0001c0001t0001g0023	2	115	0.0174	-15	c.118 others(36): Show c.1185+20774_1185+20788delATCATCATCATCATC		EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	10/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	63019731	AAGGGAAG others(8): Show AAGGGAAGAGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	196	0.0051	-15	c.310 others(36): Show c.3104-17784_3104-17770delAAGAGGAGGGGAGGG		EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	19/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	63043920	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	14	0.0714	-15	c.327 others(34): Show c.3278-1109_3278-1095delTTTTTTTTTTTTTTT		EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	21/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD2_chr19_47708422_47748134	47724981	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01243.hp1 others(8): Show HG00099.hp2 HG00741.hp1 HG01243.hp1 HG01255.hp1 HG01346.hp2 HG02683.hp2 HG03669.hp2 HG03831.hp1 HG03927.hp2 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0008 a0001c0010 a0001c0028 a0001c0008 a0001c0010 a0001c0028	a0001c0008t0005 a0001c0010t0005 a0001c0010t0016 others(1): Show a0001c0008t0005 a0001c0010t0005 a0001c0010t0016 a0001c0028t0001	a0001c0008t0005g0341 a0001c0008t0005g0363 a0001c0008t0005g0364 others(8): Show a0001c0008t0005g0341 a0001c0008t0005g0363 a0001c0008t0005g0364 a0001c0008t0005g0365 a0001c0008t0005g0381 a0001c0010t0005g0012 a0001c0010t0005g0015 a0001c0010t0005g0017 a0001c0010t0005g0284 a0001c0010t0016g0011 a0001c0028t0001g0283	11	14	0.7857	-15	c.503 others(30): Show c.503-807_503-793delAAAAAAAAAAAAAAA		EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD2_chr19_47708422_47748134	47735574	GGTGATAG others(8): Show GGTGATAGAGCGAGAC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02818.hp1 HG02723.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0024 a0001c0001t0013g0072 a0001c0001t0001g0024 a0001c0001t0013g0072	2	396	0.0051	-15	c.916 others(30): Show c.916-794_916-780delGTGATAGAGCGAGAC		EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5						chr19	TogoVar
EHF_chr11_34616093_34668288	34618581	TTATCTAT others(8): Show TTATCTATCTATCATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02486.hp2 HG02615.hp2 others(5): Show HG02109.hp2 HG02486.hp2 HG02615.hp2 HG02895.hp2 HG02965.hp1 HG03453.hp1 HG03516.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0016 a0001c0001t0046 a0001c0001t0061 others(5): Show a0001c0001t0016 a0001c0001t0046 a0001c0001t0061 a0001c0001t0062 a0001c0001t0065 a0001c0001t0067 a0001c0001t0081 a0001c0003t0011	a0001c0001t0016g0379 a0001c0001t0046g0112 a0001c0001t0061g0198 others(5): Show a0001c0001t0016g0379 a0001c0001t0046g0112 a0001c0001t0061g0198 a0001c0001t0062g0201 a0001c0001t0065g0202 a0001c0001t0067g0376 a0001c0001t0081g0372 a0001c0003t0011g0180	8	407	0.0197	-15	c.-26 others(26): Show c.-2650_-2636delTATCTATCTATCATC		EHF	ENSG00000135373.13	transcript	ENST00000257831.8	protein_coding					2511		chr11	TogoVar
EHMT1_chr9_137614005_137841127	137768529	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02717.hp2 others(7): Show HG01884.hp1 HG01891.hp2 HG02717.hp2 HG02922.hp1 HG03098.hp1 HG03195.hp2 HG03453.hp1 HG03579.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0009t0001 a0001c0003t0001 a0001c0009t0001	a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 others(7): Show a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0089 a0001c0003t0001g0096 a0001c0003t0001g0129 a0001c0009t0001g0061 a0001c0009t0001g0142 a0001c0009t0001g0170	10	28	0.3571	-15	c.164 others(34): Show c.1647+5733_1647+5747delTTTTTTTTTTTTTTT		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	10/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137805169	TTCGTCCA others(8): Show TTCGTCCACGTGTGAG	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	168	0.0060	-15	c.271 others(34): Show c.2712+4203_2712+4217delGTCCACGTGTGAGTC		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	18/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EI24_chr11_125564477_125589684	125584229	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0004 a0001c0001t0030g0004	1	18	0.0556	-15	c.56 others(24): Show c.565_*579delAAAAAAAAAAAAAAA		EI24	ENSG00000149547.15	transcript	ENST00000278903.11	protein_coding	11/11				565	INFO_REALIGN_3_PRIME	chr11	TogoVar
EIF2AK2_chr2_37094210_37161980	37145742	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0294 a0001c0001t0070g0294	1	3	0.3333	-15	c.240 others(32): Show c.240+1096_240+1110delAAAAAAAAAAAAAAA		EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding	4/16						chr2	TogoVar
EIF2AK2_chr2_37094210_37161980	37161237	AGAAAGAA others(8): Show AGAAAGAAAGAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG03516.hp1 HG03516.hp2 HG02965.hp1 HG03516.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0003t0015 a0001c0001t0011 a0001c0003t0015	a0001c0001t0011g0261 a0001c0001t0011g0280 a0001c0003t0015g0024 a0001c0001t0011g0261 a0001c0001t0011g0280 a0001c0003t0015g0024	3	266	0.0113	-15	c.-45 others(26): Show c.-4528_-4514delCTTTCTCTTTCTTTC		EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding					4258		chr2	TogoVar
EIF2AK4_chr15_39929115_40040591	40009069	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0004 a0005c0014t0004	a0005c0014t0004g0294 a0005c0014t0004g0294	1	162	0.0062	-15	c.357 others(32): Show c.3577-519_3577-505delTTTTGTTTTGTTTTG		EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	25/38					INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2B1_chr12_123615406_123638686	123628351	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01346.hp2 HG01975.hp1 others(8): Show HG01099.hp1 HG01346.hp2 HG01975.hp1 HG01978.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02886.hp2 HG03098.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 others(6): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0025 a0001c0001t0036 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076	a0001c0001t0003g0199 a0001c0001t0010g0198 a0001c0001t0013g0196 others(7): Show a0001c0001t0003g0199 a0001c0001t0010g0198 a0001c0001t0013g0196 a0001c0001t0016g0197 a0001c0001t0025g0033 a0001c0001t0036g0192 a0001c0001t0036g0194 a0001c0001t0074g0193 a0001c0001t0075g0190 a0001c0001t0076g0195	11	227	0.0485	-15	c.370 others(32): Show c.370-1210_370-1196delAAAAAAAAAAAAAAA		EIF2B1	ENSG00000111361.13	transcript	ENST00000424014.7	protein_coding	4/8						chr12	TogoVar
EIF2B3_chr1_44845522_44991595	44845524	CTTCTCCC others(8): Show CTTCTCCCTGTTATAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0220 a0001c0002t0001g0220	1	320	0.0031	-15	c.54 others(26): Show c.5412_*5426delCTATAACAGGGAGAA		EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding					4997		chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44883364	ATCATTTT others(8): Show ATCATTTTTCCAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	320	0.0031	-15	c.657 others(32): Show c.657-1640_657-1626delCCTTTGGAAAAATGA		EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	6/11						chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44978621	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	27	0.0370	-15	c.149 others(30): Show c.149-176_149-162delAAAAAAAAAAAAAAA		EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	2/11						chr1	TogoVar
EIF2S3_chrX_24049956_24083810	24050461	TCTGTATC others(8): Show TCTGTATCTAGCTCAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	292	0.0034	-15	c.-45 others(26): Show c.-4507_-4493delCTGTATCTAGCTCAA		EIF2S3	ENSG00000130741.11	transcript	ENST00000253039.9	protein_coding					4494		chrX	TogoVar
EIF3B_chr7_2349827_2385745	2365667	GTTTGTTT others(8): Show GTTTGTTTGTTTTGTT	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA19011.hp1 HG03491.hp2 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0247 a0002c0002t0001g0254 a0002c0002t0001g0247 a0002c0002t0001g0254	2	235	0.0085	-15	c.115 others(32): Show c.1158-646_1158-632delGTTTGTTTTGTTTTT		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2367825	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp2 HG02922.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0221 a0002c0002t0001g0226 a0002c0002t0001g0221 a0002c0002t0001g0226	2	33	0.0606	-15	c.140 others(32): Show c.1403+800_1403+814delTTTTTTTTTTTTTTT		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	9/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3H_chr8_116637130_116760823	116730500	GAAAGGTT others(8): Show GAAAGGTTGCAGACAC	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	334	0.0030	-15	c.133 others(32): Show c.133-4343_133-4329delGTGTCTGCAACCTTT		EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	1/7						chr8	TogoVar
EIF3J_chr15_44532147_44567803	44546816	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	154	0.0065	-15	c.148 others(32): Show c.148-4046_148-4032delTTTTTTTTTTTTTTT		EIF3J	ENSG00000104131.13	transcript	ENST00000261868.10	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF3K_chr19_38614188_38641954	38629267	GTTTGTTT others(8): Show GTTTGTTTTGTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG01069.hp1 others(29): Show HG00140.hp2 HG00280.hp1 HG01069.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01433.hp2 HG01891.hp2 HG01981.hp1 HG02155.hp1 HG02257.hp2 HG02615.hp2 HG02630.hp1 HG02809.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03579.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(22): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0124 a0001c0001t0001g0154 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0002g0046 a0001c0001t0002g0195	32	250	0.1280	-15	c.355 others(32): Show c.355-3134_355-3120delGTTTTGTTTTGTTTT		EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
EIF3M_chr11_32578831_32611264	32607080	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	51	0.0196	-15	c.46 others(26): Show c.4682_*4696delTTTTTTTTTTTTTTT		EIF3M	ENSG00000149100.13	transcript	ENST00000531120.6	protein_coding					817		chr11	TogoVar
EIF4A1_chr17_7567825_7584006	7571836	TTTATATA others(8): Show TTTATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	424	0.0024	-15	c.-10 others(25): Show c.-1005_-991delTTATATATATATATA		EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding					988		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571896	TATATATA others(8): Show TATATATATATATAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	426	0.0023	-15	c.-94 others(24): Show c.-945_-931delATATATATATATAAA		EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding					928		chr17	TogoVar
EIF4E1B_chr5_176625675_176651644	176630658	CCGGCCGT others(8): Show CCGGCCGTAAGACTCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	420	0.0024	-15	c.-60 others(24): Show c.-607_-593delCGGCCGTAAGACTCG		EIF4E1B	ENSG00000175766.13	transcript	ENST00000318682.11	protein_coding					16		chr5	TogoVar
EIF4E1B_chr5_176625675_176651644	176648676	AAGGCCTG others(8): Show AAGGCCTGGCTGTAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01167.hp2 HG01169.hp2 others(1): Show HG00140.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0026 a0001c0001t0001g0147 a0001c0001t0001g0151	4	420	0.0095	-15	c.26 others(26): Show c.2697_*2711delAGGCCTGGCTGTAGC		EIF4E1B	ENSG00000175766.13	transcript	ENST00000318682.11	protein_coding					2033		chr5	TogoVar
EIF4EBP3_chr5_140542662_140554576	140549035	TGGAGGAG others(8): Show TGGAGGAGCTGAAGGA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0002 a0003c0004t0001g0002	1	392	0.0026	-15	c.235 others(22): Show c.235_249delGAGGAGCTGAAGGAG	p.Glu others(11): Show p.Glu79_Glu83del	EIF4EBP3	ENSG00000243056.2	transcript	ENST00000310331.3	protein_coding	2/3	311/693	235/303	79/100		INFO_REALIGN_3_PRIME	chr5	TogoVar
EIF4G1_chr3_184309606_184340353	184319425	GGGTGTGT others(8): Show GGGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	376	0.0027	-15	c.425 others(30): Show c.425-262_425-248delGTGTGTGTGTGTGTG		EIF4G1	ENSG00000114867.22	transcript	ENST00000346169.7	protein_coding	6/32					INFO_REALIGN_3_PRIME	chr3	TogoVar
EIF4G3_chr1_20801479_21181897	20849046	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp2 HG04199.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0223 a0001c0001t0005g0286 a0001c0001t0001g0223 a0001c0001t0005g0286	2	178	0.0112	-15	c.388 others(32): Show c.3888+354_3888+368delTTTTTTTTTTTTTTT		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	29/36						chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21058719	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	153	0.0065	-15	c.-19 others(34): Show c.-195-7740_-195-7726delAAAAAAAAAAAAAAA		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36						chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21075570	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01952.hp1 NA18942.hp1 others(1): Show HG01070.hp2 HG01952.hp1 NA18942.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0024 a0001c0001t0004g0212 a0001c0001t0004g0215 others(1): Show a0001c0001t0002g0024 a0001c0001t0004g0212 a0001c0001t0004g0215 a0001c0001t0005g0294	4	53	0.0755	-15	c.-19 others(36): Show c.-196+13553_-196+13567delTTTTTTTTTTTTTTT		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36						chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21083037	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03453.hp2 HG04115.hp2 others(2): Show HG03225.hp2 HG03453.hp2 HG04115.hp2 NA18949.hp1 NA18952.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0002 a0001c0001t0003 a0004c0006t0001 a0001c0001t0002 a0001c0001t0003 a0004c0006t0001	a0001c0001t0002g0039 a0001c0001t0003g0248 a0001c0001t0003g0273 others(2): Show a0001c0001t0002g0039 a0001c0001t0003g0248 a0001c0001t0003g0273 a0004c0006t0001g0100 a0004c0006t0001g0101	5	18	0.2778	-15	c.-19 others(34): Show c.-196+6086_-196+6100delTTTTTTTTTTTTTTT		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36						chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21094765	TATAATAA others(8): Show TATAATAATAATAATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01256.hp2 NA20752.hp1 HG00280.hp1 HG01256.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003	3	120	0.0250	-15	c.-27 others(34): Show c.-271-5567_-271-5553delTATTATTATTATTAT		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36						chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21176231	TGCCGCCG others(8): Show TGCCGCCGCCGCCGCC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18982.hp1 NA19084.hp2 NA18982.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0004 a0001c0001t0013g0005 a0001c0001t0013g0004 a0001c0001t0013g0005	2	166	0.0120	-15	c.-34 others(24): Show c.-343_-329delGGCGGCGGCGGCGGC		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/37				173490		chr1	TogoVar
EIF4H_chr7_74169356_74202096	74186788	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00741.hp2 others(23): Show HG00323.hp1 HG00423.hp1 HG00741.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01361.hp2 HG01496.hp1 HG01891.hp2 HG01952.hp2 HG01978.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02273.hp1 HG02293.hp2 HG02717.hp2 HG02970.hp1 HG03017.hp2 HG03927.hp2 NA18966.hp1 NA18994.hp1 NA19062.hp1 NA19079.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(16): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0151 a0001c0001t0001g0199 a0001c0001t0001g0218 a0001c0001t0001g0259	26	33	0.7879	-15	c.60- others(28): Show c.60-785_60-771delTTTTTTTTTTTTTTT		EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF5B_chr2_99332389_99406326	99383020	TTATTGTG others(8): Show TTATTGTGCTTCACTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0055 a0001c0003t0004g0055	1	340	0.0029	-15	c.227 others(32): Show c.2271+113_2271+127delTATATTGTGCTTCAC		EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	14/23					INFO_REALIGN_3_PRIME	chr2	TogoVar
EIPR1_chr2_3183970_3382818	3246988	GGGAGAGA others(8): Show GGGAGAGAGCGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01884.hp1 HG02015.hp1 others(12): Show HG01516.hp1 HG01884.hp1 HG02015.hp1 HG02559.hp2 HG02615.hp1 HG02717.hp1 HG02818.hp1 HG02970.hp2 HG03098.hp2 HG03209.hp2 HG03516.hp1 NA18906.hp2 NA19240.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 others(12): Show a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0002g0114 a0001c0002t0001g0092 a0001c0002t0001g0179 a0001c0002t0002g0020 a0001c0002t0002g0116 a0001c0002t0002g0118 a0001c0002t0002g0142 a0001c0002t0002g0181 a0001c0002t0005g0078 a0001c0002t0005g0093 a0001c0002t0005g0094	15	248	0.0605	-15	c.416 others(34): Show c.416+10296_416+10310delTCCCTCGCTCTCTCC		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8						chr2	TogoVar
ELAC2_chr17_12986612_13023027	12986691	AAAAAAAA others(8): Show AAAAAAAAAAAAGAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0091 a0002c0002t0005g0091	1	398	0.0025	-15	c.61 others(26): Show c.6112_*6126delATTCTTTTTTTTTTT		ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding					4920		chr17	TogoVar
ELAC2_chr17_12986612_13023027	13022541	TTTCTTTC others(8): Show TTTCTTTCTCTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG04228.hp1 NA18963.hp1 others(4): Show HG02083.hp2 HG04228.hp1 NA18963.hp1 NA18968.hp2 NA18981.hp1 NA18991.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0025 a0001c0001t0004 a0001c0001t0025	a0001c0001t0004g0009 a0001c0001t0004g0028 a0001c0001t0004g0058 others(3): Show a0001c0001t0004g0009 a0001c0001t0004g0028 a0001c0001t0004g0058 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0025g0248	7	392	0.0179	-15	c.-46 others(26): Show c.-4609_-4595delGAAAGAGAGAAAGAA		ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding					4515		chr17	TogoVar
ELAPOR1_chr1_109109115_109211781	109151321	TGGGAGGA others(8): Show TGGGAGGAGGGAGGGA	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	228	0.0044	-15	c.154 others(34): Show c.154-10564_154-10550delGGAGGGAGGGAGGAG		ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109174413	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp2 HG02257.hp2 others(6): Show HG00642.hp1 HG01099.hp2 HG02257.hp2 HG02630.hp2 HG02723.hp1 HG02922.hp1 HG03041.hp1 HG03486.hp2 NA19043.hp2	a0002 a0002	a0002c0005 a0002c0010 a0002c0020 others(1): Show a0002c0005 a0002c0010 a0002c0020 a0002c0027	a0002c0005t0006 a0002c0005t0025 a0002c0010t0008 others(2): Show a0002c0005t0006 a0002c0005t0025 a0002c0010t0008 a0002c0020t0006 a0002c0027t0030	a0002c0005t0006g0012 a0002c0005t0006g0015 a0002c0005t0006g0060 others(6): Show a0002c0005t0006g0012 a0002c0005t0006g0015 a0002c0005t0006g0060 a0002c0005t0006g0061 a0002c0005t0025g0011 a0002c0010t0008g0005 a0002c0020t0006g0155 a0002c0020t0006g0175 a0002c0027t0030g0094	9	16	0.5625	-15	c.952 others(30): Show c.952+597_952+611delAAAAAAAAAAAAAAA		ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	7/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109183345	AAAACAAA others(8): Show AAAACAAAAAAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(92): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01255.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 NA18906.hp2 NA18959.hp1 NA18962.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19081.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0008	a0001c0001 a0001c0002 a0001c0013 others(22): Show a0001c0001 a0001c0002 a0001c0013 a0001c0019 a0001c0022 a0001c0032 a0001c0035 a0001c0039 a0001c0040 a0002c0003 a0002c0005 a0002c0006 a0002c0009 a0002c0010 a0002c0014 a0002c0015 a0002c0016 a0002c0020 a0002c0028 a0002c0037 a0003c0026 a0003c0031 a0004c0011 a0007c0041 a0008c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0013t0001 a0001c0013t0031 a0001c0019t0003 a0001c0022t0005 a0001c0032t0005 a0001c0035t0010 a0001c0039t0005 a0001c0040t0019 a0002c0003t0003 a0002c0003t0010 a0002c0003t0039 a0002c0005t0006 a0002c0005t0016 a0002c0005t0025 a0002c0006t0001 a0002c0006t0002 a0002c0006t0008 a0002c0006t0011 a0002c0009t0003 a0002c0009t0010 a0002c0010t0008 a0002c0014t0006 a0002c0015t0017 a0002c0016t0022 a0002c0020t0006 a0002c0028t0001 a0002c0037t0027 a0003c0026t0004 a0003c0031t0004 a0004c0011t0004 a0007c0041t0002 a0008c0033t0014	a0001c0001t0001g0008 a0001c0001t0001g0122 a0001c0001t0002g0018 others(92): Show a0001c0001t0001g0008 a0001c0001t0001g0122 a0001c0001t0002g0018 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0003g0041 a0001c0001t0005g0028 a0001c0001t0005g0031 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0058 a0001c0001t0005g0115 a0001c0001t0005g0131 a0001c0001t0019g0019 a0001c0002t0001g0217 a0001c0002t0002g0149 a0001c0002t0002g0152 a0001c0002t0002g0161 a0001c0002t0002g0167 a0001c0002t0002g0174 a0001c0002t0002g0179 a0001c0002t0002g0184 a0001c0002t0002g0190 a0001c0002t0002g0193 a0001c0002t0002g0212 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0003g0169 a0001c0002t0005g0150 a0001c0002t0005g0165 a0001c0002t0005g0178 a0001c0002t0005g0186 a0001c0002t0005g0227 a0001c0013t0001g0105 a0001c0013t0001g0106 a0001c0013t0031g0069 a0001c0019t0003g0136 a0001c0022t0005g0132 a0001c0032t0005g0185 a0001c0035t0010g0198 a0001c0039t0005g0170 a0001c0040t0019g0171 a0002c0003t0003g0079 a0002c0003t0003g0086 a0002c0003t0010g0123 a0002c0003t0039g0112 a0002c0005t0006g0012 a0002c0005t0006g0014 a0002c0005t0006g0015 a0002c0005t0006g0016 a0002c0005t0006g0060 a0002c0005t0006g0061 a0002c0005t0016g0083 a0002c0005t0016g0084 a0002c0005t0025g0011 a0002c0006t0001g0111 a0002c0006t0002g0133 a0002c0006t0002g0134 a0002c0006t0002g0135 a0002c0006t0002g0208 a0002c0006t0008g0062 a0002c0006t0011g0100 a0002c0009t0003g0116 a0002c0009t0010g0143 a0002c0010t0008g0002 a0002c0010t0008g0003 a0002c0010t0008g0004 a0002c0010t0008g0005 a0002c0014t0006g0158 a0002c0015t0017g0082 a0002c0015t0017g0113 a0002c0016t0022g0075 a0002c0016t0022g0085 a0002c0020t0006g0155 a0002c0020t0006g0175 a0002c0028t0001g0072 a0002c0037t0027g0192 a0003c0026t0004g0077 a0003c0031t0004g0088 a0004c0011t0004g0181 a0007c0041t0002g0157 a0008c0033t0014g0200	95	228	0.4167	-15	c.953 others(32): Show c.953-1698_953-1684delAACAAAAAAAAGAGA		ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	7/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL1_chr19_7953573_8010641	7953934	CATTTTGA others(8): Show CATTTTGAAATTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0018 a0001c0002t0005g0018	1	274	0.0036	-15	c.95 others(26): Show c.9534_*9548delAAAGAATTTCAAAAT		ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding					4638		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	8009532	TTTATTAT others(8): Show TTTATTATTATTATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18977.hp2 NA18970.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0190 a0001c0001t0002g0180 a0001c0001t0002g0190	2	47	0.0426	-15	c.-40 others(26): Show c.-4069_-4055delTAATAATAATAATAA		ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding					3892		chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23699812	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02129.hp2 HG02602.hp1 others(8): Show HG02027.hp2 HG02129.hp2 HG02602.hp1 HG03490.hp1 HG03688.hp1 HG03831.hp1 NA18946.hp2 NA18952.hp1 NA18991.hp2 NA19084.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015	a0001c0001t0001g0215 a0001c0001t0001g0232 a0001c0001t0001g0237 others(8): Show a0001c0001t0001g0215 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0003g0313 a0001c0001t0003g0341 a0001c0001t0007g0224 a0001c0001t0007g0268 a0001c0001t0012g0292 a0001c0001t0015g0246	11	42	0.2619	-15	c.713 others(32): Show c.713+1552_713+1566delAAAAAAAAAAAAAAA		ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	5/6						chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23702951	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0122 a0001c0001t0006g0122	1	28	0.0357	-15	c.488 others(32): Show c.488-1362_488-1348delTTTTTTTTTTTTTTT		ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	4/6						chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23779979	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0132 a0001c0001t0008g0132	1	2	0.5000	-15	c.-15 others(34): Show c.-15-17745_-15-17731delTTTTTTTTTTTTTTT		ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6						chr9	TogoVar

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