Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
FCN1_chr9_134898232_134922912	134905793	G G	GCTGCTTC others(14): Show GCTGCTTCTTCTTCTTCCTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0286 a0001c0001t0095g0286	1	434	0.0023	21	c.40 others(32): Show c.4004_*4005insAAGAGGAAGAAGAAGAAGCAG	FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9	4004		chr9	TogoVar
FCN1_chr9_134898232_134922912	134905864	C C	CTCTTCCT others(14): Show CTCTTCCTCTTCCTCTTCTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG01361.hp2 HG00639.hp1 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0104 a0001c0002t0122 a0001c0002t0104 a0001c0002t0122	a0001c0002t0104g0172 a0001c0002t0122g0289 a0001c0002t0104g0172 a0001c0002t0122g0289	2	434	0.0046	21	c.39 others(32): Show c.3933_*3934insAGAAGAAGAGGAAGAGGAAGA	FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9	3933		chr9	TogoVar
FCN1_chr9_134898232_134922912	134905913	T T	TCTCCTTC others(14): Show TCTCCTTCTCCTTCTCCTTCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0247 a0001c0001t0064g0247	1	434	0.0023	21	c.38 others(32): Show c.3884_*3885insGAGAAGGAGAAGGAGAAGGAG	FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9	3884		chr9	TogoVar
FCN1_chr9_134898232_134922912	134905919	T T	TCTCCTTC others(14): Show TCTCCTTCTCCTTCTCCTTCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp1 HG02970.hp1 HG03098.hp2 others(2): Show HG02622.hp1 HG02970.hp1 HG03098.hp2 NA19030.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0028 a0001c0001t0075 a0001c0001t0076 others(1): Show a0001c0001t0028 a0001c0001t0075 a0001c0001t0076 a0003c0006t0083	a0001c0001t0028g0261 a0001c0001t0028g0272 a0001c0001t0075g0270 others(2): Show a0001c0001t0028g0261 a0001c0001t0028g0272 a0001c0001t0075g0270 a0001c0001t0076g0271 a0003c0006t0083g0146	5	434	0.0115	21	c.38 others(32): Show c.3878_*3879insGAGAAGGAGAAGGAGAAGGAG	FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9	3878		chr9	TogoVar
FCN1_chr9_134898232_134922912	134905921	T T	TCCCTCTC others(14): Show TCCCTCTCCCTCTCCCTCTCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18998.hp1 NA19054.hp2 NA19066.hp2 others(1): Show NA18998.hp1 NA19054.hp2 NA19066.hp2 NA19083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0057 a0001c0003t0289 a0001c0003t0295 a0001c0003t0057 a0001c0003t0289 a0001c0003t0295	a0001c0003t0057g0051 a0001c0003t0289g0307 a0001c0003t0295g0343 a0001c0003t0057g0051 a0001c0003t0289g0307 a0001c0003t0295g0343	4	434	0.0092	21	c.38 others(32): Show c.3876_*3877insGGGAGAGGGAGAGGGAGAGGG	FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9	3876		chr9	TogoVar
FDFT1_chr8_11797741_11844298	11832551	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	458	0.0022	21	c.103 others(38): Show c.1032+886_1032+906dupAAAAAAAAAAAAAAAAAAAAA	FDFT1	ENSG00000079459.14	transcript	ENST00000220584.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
FDX2_chr19_10305045_10321015	10313671	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0238 a0001c0002t0001g0238	1	444	0.0023	21	c.307 others(38): Show c.307+1714_307+1715insATATATATATATATATATATA	FDX2	ENSG00000267673.7	transcript	ENST00000393708.3	protein_coding	3/4			chr19	TogoVar
FDX2_chr19_10305045_10321015	10313672	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0244 a0001c0002t0001g0244	1	444	0.0023	21	c.307 others(38): Show c.307+1713_307+1714insTATATATATATATATATATAT	FDX2	ENSG00000267673.7	transcript	ENST00000393708.3	protein_coding	3/4			chr19	TogoVar
FEM1A_chr19_4786734_4806273	4799904	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp2 HG02040.hp1 HG01256.hp2 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0000 a0001c0001t0033g0000	2	430	0.0047	21	c.60 others(32): Show c.6049_*6069dupAAAAAAAAAAAAAAAAAAAAA	FEM1A	ENSG00000141965.5	transcript	ENST00000269856.5	protein_coding	1/1	6070	INFO_REALIGN_3_PRIME	chr19	TogoVar
FER1L5_chr2_96637764_96709883	96659362	C C	CTTCCTTC others(14): Show CTTCCTTCCTTCCTTCTCTTCT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0017 a0001c0004t0001g0017	1	226	0.0044	21	c.748 others(36): Show c.748-976_748-975insCTTCCTTCCTTCTCTTCTTTC	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FER1L5_chr2_96637764_96709883	96659369	C C	CCTTCCTT others(14): Show CCTTCCTTCCTTCCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0001 a0015c0016t0001	a0015c0016t0001g0114 a0015c0016t0001g0114	1	226	0.0044	21	c.748 others(36): Show c.748-972_748-971insCTTCCTTCCTTCCTTCTTCTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52			chr2	TogoVar
FER1L5_chr2_96637764_96709883	96659453	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0032 a0001c0004t0001g0032	1	226	0.0044	21	c.748 others(36): Show c.748-885_748-865dupTCTTTCTTTCTTTCTTTCTTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FERMT2_chr14_52852273_52956050	52852433	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	288	0.0035	21	c.59 others(32): Show c.5943_*5944insTTTTTTTTTTTTTTTTTTTTT	FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding		4839		chr14	TogoVar
FERMT2_chr14_52852273_52956050	52858254	G G	GCAAAGAA others(14): Show GCAAAGAAGTTTTCATGATAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0156 a0001c0002t0014g0156	1	288	0.0035	21	c.10 others(30): Show c.102_*122dupTTTATCATGAAAACTTCTTTG	FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	15/15	122		chr14	TogoVar
FERMT2_chr14_52852273_52956050	52902868	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01168.hp1 others(3): Show HG00738.hp2 HG01070.hp2 HG01168.hp1 NA18974.hp1 NA18982.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0151 others(3): Show a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0175 a0001c0001t0001g0225	6	288	0.0208	21	c.392 others(38): Show c.392-9462_392-9442dupTTTTTTTTTTTTTTTTTTTTT	FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	3/14			chr14	TogoVar
FERMT2_chr14_52852273_52956050	52913680	C C	CAGTAGTA others(14): Show CAGTAGTAGTAGTAGTAGTAGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01256.hp2 HG01261.hp1 others(5): Show HG01069.hp2 HG01256.hp2 HG01261.hp1 HG02280.hp1 HG02717.hp2 HG02976.hp2 HG03130.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0010	a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0002t0002g0113 others(5): Show a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0002t0002g0113 a0001c0002t0002g0125 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0009g0279 a0001c0002t0010g0065	8	288	0.0278	21	c.391 others(38): Show c.391+5422_391+5442dupACTACTACTACTACTACTACT	FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	3/14			chr14	TogoVar
FER_chr5_108742897_109201841	108859920	C C	CTATTATT others(14): Show CTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18952.hp1 NA18990.hp1 others(3): Show HG02622.hp2 NA18952.hp1 NA18990.hp1 NA19001.hp2 NA19056.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0002c0003t0003 a0002c0003t0045 a0001c0001t0007 a0002c0003t0003 a0002c0003t0045	a0001c0001t0007g0012 a0002c0003t0003g0015 a0002c0003t0003g0065 others(3): Show a0001c0001t0007g0012 a0002c0003t0003g0015 a0002c0003t0003g0065 a0002c0003t0003g0069 a0002c0003t0003g0070 a0002c0003t0045g0061	6	138	0.0435	21	c.482 others(38): Show c.482-7830_482-7810dupATTATTATTATTATTATTATT	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	108927252	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02055.hp2 others(1): Show HG01109.hp1 HG01891.hp2 HG02055.hp2 HG02647.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0013 a0003c0009 a0001c0001 a0001c0013 a0003c0009	a0001c0001t0001 a0001c0013t0014 a0003c0009t0002 others(1): Show a0001c0001t0001 a0001c0013t0014 a0003c0009t0002 a0003c0009t0008	a0001c0001t0001g0019 a0001c0013t0014g0096 a0003c0009t0002g0057 others(1): Show a0001c0001t0001g0019 a0001c0013t0014g0096 a0003c0009t0002g0057 a0003c0009t0008g0056	4	138	0.0290	21	c.123 others(42): Show c.1237-18859_1237-18858insTTTTTTTTTTTTTTTTTTTTT	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FEZ1_chr11_125437881_125501265	125449441	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19055.hp1 NA19091.hp2 NA18747.hp1 NA19055.hp1 NA19091.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0003 a0004c0007t0003 a0001c0001t0003 a0004c0007t0003	a0001c0001t0003g0033 a0001c0001t0003g0052 a0004c0007t0003g0045 a0001c0001t0003g0033 a0001c0001t0003g0052 a0004c0007t0003g0045	3	356	0.0084	21	c.109 others(38): Show c.1097-875_1097-874insCTTTTTTTTTTTTTTTTTTTT	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	8/9			chr11	TogoVar
FEZ1_chr11_125437881_125501265	125449441	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0321 a0001c0001t0003g0321	1	356	0.0028	21	c.109 others(38): Show c.1097-875_1097-874insCTTCTTTTTTTTTTTTTTTTT	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	8/9			chr11	TogoVar
FEZ1_chr11_125437881_125501265	125493417	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAGGAAAGAAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	356	0.0028	21	c.-46 others(38): Show c.-46+2703_-46+2704insCTTCTTTCCTTTCTTTCTTTC	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	1/9			chr11	TogoVar
FEZ2_chr2_36547258_36603168	36598175	G G	GCCGGCCC others(14): Show GCCGGCCCGGGCCCGGCCCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02922.hp1 HG01243.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0305 a0001c0002t0002g0113 a0001c0001t0002g0305 a0001c0002t0002g0113	2	404	0.0050	21	c.-34 others(28): Show c.-34_-33insGCTGGGCCGGGCCCGGGCCGG	FEZ2	ENSG00000171055.15	transcript	ENST00000405912.8	protein_coding		8		chr2	TogoVar
FEZ2_chr2_36547258_36603168	36598193	G G	GCCCGGCC others(14): Show GCCCGGCCCAGCCCGGCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(57): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00741.hp1 HG01069.hp2 HG01081.hp1 HG01099.hp2 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01517.hp2 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02300.hp1 HG02486.hp2 HG02602.hp1 HG02896.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG04204.hp1 HG04228.hp1 NA18906.hp1 NA18955.hp1 NA18956.hp2 NA18962.hp1 NA18970.hp1 NA18971.hp1 NA18979.hp1 NA18980.hp1 NA18985.hp1 NA19003.hp1 NA19005.hp2 NA19030.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0015 others(2): Show a0001c0001 a0001c0002 a0001c0015 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 a0001c0015t0001 a0002c0003t0002 a0002c0003t0003 a0002c0004t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 others(43): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0296 a0001c0001t0002g0014 a0001c0001t0002g0172 a0001c0001t0009g0036 a0001c0002t0001g0156 a0001c0015t0001g0087 a0002c0003t0002g0126 a0002c0003t0003g0123 a0002c0003t0003g0124 a0002c0003t0003g0127 a0002c0003t0003g0128 a0002c0003t0003g0129 a0002c0004t0001g0100	60	404	0.1485	21	c.-52 others(28): Show c.-52_-51insGCGGGGCCGGGCTGGGCCGGG	FEZ2	ENSG00000171055.15	transcript	ENST00000405912.8	protein_coding		26		chr2	TogoVar
FGD2_chr6_37000655_37034069	37028615	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp2 HG02109.hp1 HG02109.hp2 HG00733.hp2 HG02109.hp1 HG02109.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0001c0018 a0002c0008 a0001c0012 a0001c0018 a0002c0008	a0001c0012t0020 a0001c0018t0020 a0002c0008t0026 a0001c0012t0020 a0001c0018t0020 a0002c0008t0026	a0001c0012t0020g0012 a0001c0018t0020g0034 a0002c0008t0026g0014 a0001c0012t0020g0012 a0001c0018t0020g0034 a0002c0008t0026g0014	3	430	0.0070	21	c.46 others(30): Show c.469_*470insTTTTTTTTTTTTTTTTTTTTT	FGD2	ENSG00000146192.15	transcript	ENST00000274963.13	protein_coding	16/16	470	INFO_REALIGN_3_PRIME	chr6	TogoVar
FGD5_chr3_14813962_14939571	14853636	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18961.hp2 NA19082.hp1 HG02071.hp1 NA18961.hp2 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0122 a0001c0001t0001g0175 a0002c0003t0001g0177 a0001c0001t0001g0122 a0001c0001t0001g0175 a0002c0003t0001g0177	3	342	0.0088	21	c.252 others(42): Show c.2526-10481_2526-10461dupTTTTTTTTTTTTTTTTTTTTT	FGD5	ENSG00000154783.12	transcript	ENST00000285046.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
FGD6_chr12_95071749_95222467	95149112	C C	CATATATA others(14): Show CATATATATTATATAATATTAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0005 a0001c0012t0005	a0001c0012t0005g0207 a0001c0012t0005g0207	1	384	0.0026	21	c.268 others(40): Show c.2685+3698_2685+3699insATAATATTATATAATATATAT	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar
FGD6_chr12_95071749_95222467	95149330	A A	AATATATT others(14): Show AATATATTATATAATATATAGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00423.hp2 others(31): Show HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00597.hp1 HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01175.hp2 HG01192.hp2 HG01433.hp2 HG01891.hp1 HG02004.hp2 HG02486.hp2 HG02572.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG02922.hp1 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03654.hp2 HG03927.hp1 NA18522.hp1 NA18906.hp1 NA18947.hp2 NA18948.hp2 NA18956.hp1 NA18962.hp2 NA19030.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1	a0001 a0014 a0001 a0014	a0001c0003 a0001c0007 a0001c0009 others(5): Show a0001c0003 a0001c0007 a0001c0009 a0001c0014 a0001c0023 a0001c0024 a0001c0032 a0014c0034	a0001c0003t0002 a0001c0003t0018 a0001c0003t0019 others(15): Show a0001c0003t0002 a0001c0003t0018 a0001c0003t0019 a0001c0003t0026 a0001c0003t0040 a0001c0003t0045 a0001c0003t0055 a0001c0007t0002 a0001c0007t0018 a0001c0007t0066 a0001c0007t0082 a0001c0007t0083 a0001c0009t0025 a0001c0014t0002 a0001c0023t0002 a0001c0024t0002 a0001c0032t0058 a0014c0034t0002	a0001c0003t0002g0050 a0001c0003t0002g0053 a0001c0003t0002g0056 others(31): Show a0001c0003t0002g0050 a0001c0003t0002g0053 a0001c0003t0002g0056 a0001c0003t0002g0057 a0001c0003t0002g0065 a0001c0003t0002g0066 a0001c0003t0002g0070 a0001c0003t0002g0071 a0001c0003t0002g0075 a0001c0003t0002g0078 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0154 a0001c0003t0018g0083 a0001c0003t0019g0072 a0001c0003t0026g0054 a0001c0003t0040g0147 a0001c0003t0045g0082 a0001c0003t0055g0087 a0001c0007t0002g0011 a0001c0007t0002g0012 a0001c0007t0002g0013 a0001c0007t0002g0035 a0001c0007t0018g0109 a0001c0007t0066g0295 a0001c0007t0082g0383 a0001c0007t0083g0384 a0001c0009t0025g0074 a0001c0014t0002g0048 a0001c0014t0002g0049 a0001c0023t0002g0055 a0001c0024t0002g0148 a0001c0032t0058g0081 a0014c0034t0002g0015	34	384	0.0885	21	c.268 others(40): Show c.2685+3460_2685+3480dupGCTATATATTATATAATATAT	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar
FGD6_chr12_95071749_95222467	95186225	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19000.hp1 NA18952.hp1 NA19000.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0336 a0003c0004t0004g0337 a0003c0004t0004g0336 a0003c0004t0004g0337	2	384	0.0052	21	c.244 others(42): Show c.2442-13482_2442-13481insAAAAAAAAAAAAAAAAAAAAA	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	2/20			chr12	TogoVar
FGF12_chr3_192134390_192732541	192378026	T T	TTTCTCTC others(14): Show TTTCTCTCTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	90	0.0111	21	c.14- others(38): Show c.14-17489_14-17488insGAAAGAAAGAAAGAGAGAGAA	FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	2/5			chr3	TogoVar
FGF12_chr3_192134390_192732541	192599269	A A	AATAATAA others(14): Show AATAATAATAATAATAATAATT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp1 HG02559.hp1 others(12): Show HG01074.hp1 HG01109.hp1 HG02559.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG04204.hp2 NA18906.hp2 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0031 a0001c0001t0033 a0001c0001t0038	a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0037 others(12): Show a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0002g0020 a0001c0001t0002g0044 a0001c0001t0003g0077 a0001c0001t0005g0031 a0001c0001t0009g0052 a0001c0001t0012g0012 a0001c0001t0015g0064 a0001c0001t0018g0002 a0001c0001t0018g0024 a0001c0001t0031g0042 a0001c0001t0033g0011 a0001c0001t0038g0010	15	90	0.1667	21	c.13+ others(40): Show c.13+127911_13+127912insAATTATTATTATTATTATTAT	FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	2/5			chr3	TogoVar
FGF12_chr3_192134390_192732541	192599269	A A	AATAATAA others(14): Show AATAATAATAATAATAATTATT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0054 a0001c0001t0020g0054	1	90	0.0111	21	c.13+ others(40): Show c.13+127911_13+127912insAATAATTATTATTATTATTAT	FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	2/5			chr3	TogoVar
FGF12_chr3_192134390_192732541	192714513	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0047 a0001c0001t0027g0047	1	90	0.0111	21	c.13+ others(38): Show c.13+12647_13+12667dupAAAAAAAAAAAAAAAAAAAAA	FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	2/5			chr3	TogoVar
FGF14_chr13_101705804_101921945	101884062	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	266	0.0038	21	c.194 others(38): Show c.194-8787_194-8767dupTTTTTTTTTTTTTTTTTTTTT	FGF14	ENSG00000102466.17	transcript	ENST00000376143.5	protein_coding	1/4			chr13	TogoVar
FGF18_chr5_171414647_171462626	171461629	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG01516.hp1 others(5): Show HG00738.hp1 HG00738.hp2 HG01516.hp1 HG01517.hp1 HG01934.hp1 HG02647.hp1 HG03041.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0162 a0001c0001t0001g0183 others(5): Show a0001c0001t0001g0107 a0001c0001t0001g0162 a0001c0001t0001g0183 a0001c0001t0001g0200 a0001c0001t0001g0227 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0333	8	388	0.0206	21	c.48 others(32): Show c.4824_*4825insTTTCTTTCTTTCTTTCTTTCT	FGF18	ENSG00000156427.8	transcript	ENST00000274625.6	protein_coding		4004		chr5	TogoVar
FGF18_chr5_171414647_171462626	171461632	T T	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 NA19009.hp1 HG03130.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0121 a0001c0002t0001g0322 a0001c0001t0002g0121 a0001c0002t0001g0322	2	388	0.0052	21	c.48 others(32): Show c.4827_*4828insCTTTCTTTCTTTCTTTCTTTC	FGF18	ENSG00000156427.8	transcript	ENST00000274625.6	protein_coding		4007		chr5	TogoVar
FGF2_chr4_122821831_122903236	122899044	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01243.hp2 HG02055.hp2 others(1): Show HG01167.hp2 HG01243.hp2 HG02055.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0029 a0001c0001t0002 a0001c0001t0029	a0001c0001t0002g0045 a0001c0001t0002g0209 a0001c0001t0002g0237 others(1): Show a0001c0001t0002g0045 a0001c0001t0002g0209 a0001c0001t0002g0237 a0001c0001t0029g0207	4	256	0.0156	21	c.66 others(32): Show c.6648_*6649insTTTTTTTTTTTTTTTTTTTTT	FGF2	ENSG00000138685.18	transcript	ENST00000644866.2	protein_coding		809		chr4	TogoVar
FGF7_chr15_49418242_49493775	49422120	T T	TAGAGAGA others(14): Show TAGAGAGAGAGAGAGAGGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0113 a0001c0001t0006g0113	1	358	0.0028	21	c.-15 others(32): Show c.-1587_-1586insAGAGAGAGAGAGAGAGGAGAG	FGF7	ENSG00000140285.12	transcript	ENST00000267843.9	protein_coding		1121		chr15	TogoVar
FGF7_chr15_49418242_49493775	49489803	T T	TTATATAT others(14): Show TTATATATATATATATATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01255.hp2 HG04228.hp2 others(1): Show HG00408.hp1 HG01255.hp2 HG04228.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0282 a0001c0001t0010g0284 a0001c0001t0010g0285 others(1): Show a0001c0001t0010g0282 a0001c0001t0010g0284 a0001c0001t0010g0285 a0001c0001t0010g0286	4	358	0.0112	21	c.52 others(32): Show c.5299_*5300insTATATATATATATATATTTTA	FGF7	ENSG00000140285.12	transcript	ENST00000267843.9	protein_coding		1029		chr15	TogoVar
FGF7_chr15_49418242_49493775	49489860	T T	TTATATAT others(14): Show TTATATATATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0292 a0001c0001t0008g0292	1	358	0.0028	21	c.53 others(32): Show c.5356_*5357insTATATATATATATAATATATA	FGF7	ENSG00000140285.12	transcript	ENST00000267843.9	protein_coding		1086		chr15	TogoVar
FGF7_chr15_49418242_49493775	49489860	T T	TTATATAT others(14): Show TTATATATATATATATATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0281 a0001c0001t0010g0281	1	358	0.0028	21	c.53 others(32): Show c.5356_*5357insTATATATATATATATATTTTA	FGF7	ENSG00000140285.12	transcript	ENST00000267843.9	protein_coding		1086		chr15	TogoVar
FGFBP3_chr10_91901584_91914486	91903747	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	416	0.0024	21	c.44 others(32): Show c.4445_*4446insAAAAAAAAAAAAAAAAAAAAA	FGFBP3	ENSG00000174721.10	transcript	ENST00000311575.6	protein_coding		2836		chr10	TogoVar
FGFR4_chr5_177081915_177103144	177084675	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01261.hp2 HG01515.hp2 others(4): Show HG00609.hp2 HG01261.hp2 HG01515.hp2 HG02027.hp2 HG03831.hp1 HG04184.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0001 a0001c0025t0001 a0001c0001t0001 a0001c0025t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0107 a0001c0025t0001g0014	7	372	0.0188	21	c.-24 others(32): Show c.-2456_-2455insTATATATATATATATATATAT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding		2239		chr5	TogoVar
FGFR4_chr5_177081915_177103144	177084675	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	372	0.0027	21	c.-24 others(32): Show c.-2456_-2455insTATATATATATATATATATTT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding		2239		chr5	TogoVar
FGFR4_chr5_177081915_177103144	177084675	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA20752.hp1 NA19062.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0002 a0001c0001t0001g0013	2	372	0.0054	21	c.-24 others(32): Show c.-2456_-2455insTATATATATATATATATTTTT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding		2239		chr5	TogoVar
FGFR4_chr5_177081915_177103144	177097078	C C	CCTCTTCC others(14): Show CCTCTTCCTCCTTCTCCTCCTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01255.hp1 HG00639.hp2 HG01255.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0024 a0003c0004t0003g0024	2	372	0.0054	21	c.215 others(38): Show c.2154-212_2154-211insCTTCCTCCTTCTCCTCCTGCT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FGFR4_chr5_177081915_177103144	177097088	C C	CTCCTCCT others(14): Show CTCCTCCTCCTCCTGCTCCTCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0018 a0018	a0018c0029 a0018c0029	a0018c0029t0001 a0018c0029t0001	a0018c0029t0001g0213 a0018c0029t0001g0213	1	372	0.0027	21	c.215 others(38): Show c.2154-190_2154-170dupGCTCCTCTTCCTCCTCCTCCT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FGFRL1_chr4_1006626_1031898	1009771	C C	CCGGGCCC others(14): Show CCGGGCCCCGGCCCCGCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	414	0.0024	21	c.-22 others(32): Show c.-2200_-2199insCGGGCCCCGGCCCCGCCCCCG	FGFRL1	ENSG00000127418.15	transcript	ENST00000510644.6	protein_coding		1854		chr4	TogoVar
FGGY_chr1_59292094_59767730	59360127	G G	GTTATTAT others(14): Show GTTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18965.hp1 HG03041.hp2 NA18965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0002 a0001c0001t0001 a0002c0004t0002	a0001c0001t0001g0136 a0002c0004t0002g0094 a0001c0001t0001g0136 a0002c0004t0002g0094	2	166	0.0121	21	c.465 others(40): Show c.465+13738_465+13758dupATTATTATTATTATTATTATT	FGGY	ENSG00000172456.18	transcript	ENST00000303721.12	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
FGGY_chr1_59292094_59767730	59379162	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02738.hp1 HG01496.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0140 a0001c0001t0002g0113 a0001c0001t0001g0140 a0001c0001t0002g0113	2	166	0.0121	21	c.554 others(36): Show c.554+325_554+326insCACACACACACACACACACAC	FGGY	ENSG00000172456.18	transcript	ENST00000303721.12	protein_coding	5/15			chr1	TogoVar
FGL1_chr8_17859389_17900524	17872302	T T	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02056.hp2 others(9): Show HG01884.hp2 HG01891.hp1 HG02056.hp2 HG02109.hp1 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG03139.hp1 HG03453.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0171 a0004c0004t0001g0003 a0004c0004t0001g0040 others(5): Show a0001c0001t0001g0171 a0004c0004t0001g0003 a0004c0004t0001g0040 a0004c0004t0001g0045 a0004c0004t0001g0253 a0004c0004t0001g0273 a0004c0004t0001g0274 a0004c0004t0001g0304	12	366	0.0328	21	c.502 others(38): Show c.502+1716_502+1717insTAATAATAATAATAATAATAA	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	5/7			chr8	TogoVar

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