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
EYA2_chr20_46889843_47193844	46908870	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02818.hp1 NA18994.hp2 HG02257.hp1 HG02818.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0035 a0001c0001t0001g0237 a0001c0001t0002g0136 a0001c0001t0001g0035 a0001c0001t0001g0237 a0001c0001t0002g0136	3	238	0.0126	15	c.-11 others(34): Show c.-11+13906_-11+13920dupTTTTTTTTTTTTTTT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47046757	T T	TGTAAAAT others(8): Show TGTAAAATATGCCATG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02055.hp1 HG02055.hp2 others(10): Show HG01361.hp1 HG02055.hp1 HG02055.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp2 NA18906.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0003c0006 a0004c0008 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0003c0006t0002 a0003c0006t0003 a0004c0008t0001 a0006c0010t0001	a0001c0001t0001g0030 a0001c0001t0001g0138 a0001c0001t0001g0163 others(10): Show a0001c0001t0001g0030 a0001c0001t0001g0138 a0001c0001t0001g0163 a0001c0001t0002g0150 a0001c0002t0001g0040 a0001c0002t0001g0101 a0001c0002t0001g0143 a0001c0002t0001g0171 a0001c0003t0001g0103 a0003c0006t0002g0167 a0003c0006t0003g0165 a0004c0008t0001g0147 a0006c0010t0001g0168	13	238	0.0546	15	c.416 others(34): Show c.416-25418_416-25417insCCATGGTAAAATATG	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47057093	A A	AAGGAAGG others(8): Show AAGGAAGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0024 a0001c0013t0001g0024	1	238	0.0042	15	c.416 others(34): Show c.416-15088_416-15074dupAAGGAGGGAGGGAGG	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47134586	A A	ACACAAAC others(8): Show ACACAAACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01106.hp1 HG01884.hp2 others(20): Show HG00609.hp2 HG01106.hp1 HG01884.hp2 HG02451.hp2 HG02559.hp2 HG02886.hp1 HG02886.hp2 HG03927.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18950.hp1 NA18963.hp2 NA18970.hp2 NA18977.hp1 NA18990.hp1 NA18992.hp2 NA19004.hp2 NA19010.hp1 NA19066.hp2 NA19082.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0008c0014	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0008c0014t0001	a0001c0001t0002g0084 a0001c0001t0002g0151 a0001c0001t0003g0048 others(20): Show a0001c0001t0002g0084 a0001c0001t0002g0151 a0001c0001t0003g0048 a0001c0001t0003g0051 a0001c0001t0003g0170 a0001c0002t0001g0003 a0001c0002t0001g0063 a0001c0002t0001g0126 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0162 a0001c0002t0001g0179 a0001c0002t0001g0205 a0001c0002t0001g0225 a0001c0003t0001g0080 a0001c0003t0001g0098 a0001c0003t0003g0045 a0001c0003t0003g0111 a0001c0004t0001g0001 a0001c0004t0001g0076 a0001c0004t0001g0123 a0001c0004t0001g0127 a0008c0014t0001g0159	23	238	0.0966	15	c.889 others(32): Show c.889-8472_889-8458dupCACAAACACACACAC	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47182628	T T	TCAAAAAA others(8): Show TCAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00735.hp1 others(66): Show HG00438.hp2 HG00609.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp1 HG02015.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02258.hp1 HG02451.hp1 HG02559.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18939.hp2 NA18940.hp1 NA18944.hp2 NA18949.hp2 NA18950.hp2 NA18954.hp1 NA18968.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA19002.hp2 NA19009.hp1 NA19010.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19082.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0003c0006 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0002c0005t0001 a0003c0006t0003 a0005c0007t0001	a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0034 others(66): Show a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0102 a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0172 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0022 a0001c0001t0003g0036 a0001c0001t0003g0041 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0083 a0001c0001t0003g0089 a0001c0001t0003g0092 a0001c0001t0003g0107 a0001c0001t0003g0113 a0001c0001t0003g0116 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0130 a0001c0001t0003g0134 a0001c0001t0003g0161 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0207 a0001c0001t0003g0217 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0002t0001g0004 a0001c0003t0001g0011 a0001c0003t0001g0093 a0001c0003t0003g0045 a0001c0003t0003g0066 a0001c0003t0003g0085 a0001c0003t0003g0108 a0001c0003t0003g0111 a0001c0003t0003g0120 a0001c0003t0003g0183 a0001c0003t0003g0218 a0001c0003t0003g0234 a0001c0004t0001g0142 a0002c0005t0001g0031 a0002c0005t0001g0032 a0003c0006t0003g0165 a0005c0007t0001g0007	69	238	0.2899	15	c.143 others(32): Show c.1436-663_1436-662insCAAAAAAAAAAAAAA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	14/15			chr20	TogoVar
EYA3_chr1_27965344_28093610	28009639	A A	AAACAACA others(8): Show AAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01256.hp2 HG01258.hp1 others(7): Show HG00642.hp1 HG01256.hp2 HG01258.hp1 HG01515.hp1 HG01517.hp1 HG02602.hp1 HG02895.hp2 HG02897.hp2 HG03486.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0003 a0001c0001t0016	a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0017 others(7): Show a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0047 a0001c0001t0016g0028 a0001c0001t0016g0029 a0001c0001t0016g0030	10	392	0.0255	15	c.909 others(32): Show c.909+1293_909+1307dupGTTGTTGTTGTTGTT	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	10/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28038439	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp1 HG02647.hp2 HG02109.hp2 HG02572.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0006 a0001c0001t0008g0007 a0001c0001t0008g0200 a0001c0001t0008g0006 a0001c0001t0008g0007 a0001c0001t0008g0200	3	392	0.0077	15	c.224 others(30): Show c.224+385_224+399dupTTTTTTTTTTTTTTT	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	5/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02886.hp1 NA18612.hp2 others(3): Show HG02080.hp1 HG02886.hp1 NA18612.hp2 NA18946.hp2 NA18952.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0291 a0001c0001t0003g0057 a0001c0001t0003g0075 others(3): Show a0001c0001t0002g0291 a0001c0001t0003g0057 a0001c0001t0003g0075 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084	6	392	0.0153	15	c.-68 others(34): Show c.-68-15034_-68-15033insATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	392	0.0026	15	c.-68 others(34): Show c.-68-15034_-68-15033insAAATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02976.hp1 HG00639.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0293 a0001c0001t0002g0294	2	392	0.0051	15	c.-68 others(34): Show c.-68-15034_-68-15033insAAAAAAATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073128	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18974.hp1 NA18964.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0381 a0001c0001t0006g0357 a0001c0001t0004g0381 a0001c0001t0006g0357	2	392	0.0051	15	c.-68 others(34): Show c.-68-15035_-68-15034insTATATATATATATAT	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084595	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0028 a0001c0001t0016g0029 a0001c0001t0016g0028 a0001c0001t0016g0029	2	392	0.0051	15	c.-69 others(32): Show c.-69+3928_-69+3929insAAATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084595	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19065.hp1 NA18982.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0033 a0001c0001t0003g0034	2	392	0.0051	15	c.-69 others(32): Show c.-69+3928_-69+3929insAAAAATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084596	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18945.hp1 HG03453.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0270 a0001c0001t0001g0138 a0001c0001t0001g0270	2	392	0.0051	15	c.-69 others(32): Show c.-69+3927_-69+3928insTATATATATATATAT	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28092164	A A	AAATAATA others(8): Show AAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01256.hp1 HG01346.hp1 others(6): Show HG00639.hp2 HG01256.hp1 HG01346.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG02976.hp2 NA18747.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0096 a0001c0001t0002g0229 a0001c0001t0002g0238 others(6): Show a0001c0001t0002g0096 a0001c0001t0002g0229 a0001c0001t0002g0238 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0009g0093	9	392	0.0230	15	c.-37 others(26): Show c.-3710_-3709insATTATTATTATTATT	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding		3555		chr1	TogoVar
EYA4_chr6_133236357_133537128	133417672	T T	TAAAATAC others(8): Show TAAAATACATAATACA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02040.hp1 HG02280.hp2 others(22): Show HG00609.hp1 HG02040.hp1 HG02280.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03927.hp1 HG04228.hp1 HG06807.hp2 NA18946.hp2 NA18982.hp1 NA18983.hp1 NA19005.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0002t0015 a0002c0002t0016 a0002c0002t0021 a0002c0002t0050	a0001c0001t0002g0098 a0001c0001t0004g0049 a0001c0001t0004g0133 others(22): Show a0001c0001t0002g0098 a0001c0001t0004g0049 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0013g0119 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0121 a0002c0002t0001g0198 a0002c0002t0001g0252 a0002c0002t0003g0114 a0002c0002t0003g0229 a0002c0002t0004g0026 a0002c0002t0004g0048 a0002c0002t0004g0181 a0002c0002t0006g0027 a0002c0002t0006g0072 a0002c0002t0006g0097 a0002c0002t0006g0099 a0002c0002t0006g0245 a0002c0002t0008g0264 a0002c0002t0015g0103 a0002c0002t0016g0055 a0002c0002t0021g0088 a0002c0002t0050g0180	25	264	0.0947	15	c.84- others(32): Show c.84-28958_84-28957insAAAATACATAATACA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19			chr6	TogoVar
EYA4_chr6_133236357_133537128	133489340	A A	AAGGATAA others(8): Show AAGGATAATAACAGAT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	264	0.0038	15	c.119 others(34): Show c.1191+6226_1191+6227insGGATAATAACAGATA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133495485	T T	TACTCATT others(8): Show TACTCATTTATTTATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp2 others(61): Show HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG01070.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp2 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01517.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02074.hp2 HG02109.hp1 HG02145.hp2 HG02486.hp1 HG02523.hp2 HG02647.hp1 HG02896.hp1 HG02897.hp2 HG03239.hp1 HG03491.hp1 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG04199.hp2 NA18941.hp1 NA18947.hp2 NA18952.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18970.hp1 NA18982.hp1 NA18989.hp1 NA18992.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19082.hp1 NA20129.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0025 a0001c0001t0031 a0001c0001t0032 a0001c0001t0044	a0001c0001t0001g0019 a0001c0001t0002g0001 a0001c0001t0002g0005 others(61): Show a0001c0001t0001g0019 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0028 a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0001t0002g0054 a0001c0001t0002g0062 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0098 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0214 a0001c0001t0002g0225 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0259 a0001c0001t0003g0069 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0160 a0001c0001t0003g0163 a0001c0001t0003g0169 a0001c0001t0003g0249 a0001c0001t0003g0260 a0001c0001t0004g0123 a0001c0001t0004g0152 a0001c0001t0009g0137 a0001c0001t0009g0230 a0001c0001t0011g0083 a0001c0001t0011g0086 a0001c0001t0025g0210 a0001c0001t0031g0203 a0001c0001t0032g0165 a0001c0001t0044g0096	64	264	0.2424	15	c.119 others(36): Show c.1192-10620_1192-10619insCTCATTTATTTATAA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133495485	T T	TATTCATT others(8): Show TATTCATTTATTTATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01123.hp1 HG01884.hp1 others(23): Show HG00609.hp1 HG01123.hp1 HG01884.hp1 HG02040.hp1 HG02155.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03486.hp1 HG03540.hp1 HG03654.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18946.hp2 NA18983.hp1 NA19005.hp1 NA19030.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0013 a0001c0001t0016 a0001c0001t0020 others(10): Show a0001c0001t0013 a0001c0001t0016 a0001c0001t0020 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0043 a0001c0005t0027 a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0002t0015	a0001c0001t0013g0115 a0001c0001t0013g0117 a0001c0001t0013g0119 others(23): Show a0001c0001t0013g0115 a0001c0001t0013g0117 a0001c0001t0013g0119 a0001c0001t0016g0050 a0001c0001t0020g0089 a0001c0001t0020g0093 a0001c0001t0028g0142 a0001c0001t0029g0010 a0001c0001t0030g0139 a0001c0001t0043g0082 a0001c0005t0027g0122 a0002c0002t0004g0026 a0002c0002t0006g0027 a0002c0002t0006g0072 a0002c0002t0006g0081 a0002c0002t0006g0097 a0002c0002t0006g0099 a0002c0002t0006g0245 a0002c0002t0008g0084 a0002c0002t0008g0091 a0002c0002t0008g0092 a0002c0002t0008g0264 a0002c0002t0009g0148 a0002c0002t0015g0101 a0002c0002t0015g0102 a0002c0002t0015g0103	26	264	0.0985	15	c.119 others(36): Show c.1192-10620_1192-10619insTTCATTTATTTATAA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYS_chr6_63714980_65712226	63840209	A A	AGCTTATT others(8): Show AGCTTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02451.hp1 HG01169.hp2 HG02451.hp1	a0001 a0005 a0001 a0005	a0001c0019 a0005c0011 a0001c0019 a0005c0011	a0001c0019t0001 a0005c0011t0002 a0001c0019t0001 a0005c0011t0002	a0001c0019t0001g0006 a0005c0011t0002g0018 a0001c0019t0001g0006 a0005c0011t0002g0018	2	24	0.0833	15	c.722 others(36): Show c.7228+23976_7228+23977insATAATAATAATAAGC	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	36/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64169431	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0002 a0010c0015t0002	a0010c0015t0002g0023 a0010c0015t0002g0023	1	24	0.0417	15	c.642 others(36): Show c.6424+61146_6424+61160dupAAAAAAAAAAAAAAA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	31/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64766649	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0001 a0004c0024t0001	a0004c0024t0001g0001 a0004c0024t0001g0001	1	24	0.0417	15	c.344 others(36): Show c.3443+46728_3443+46729insATATATATATTTTTT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	22/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64766649	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0021 a0021	a0021c0007 a0021c0007	a0021c0007t0001 a0021c0007t0001	a0021c0007t0001g0009 a0021c0007t0001g0009	1	24	0.0417	15	c.344 others(36): Show c.3443+46728_3443+46729insATATATATATATATT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	22/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64807999	T T	TTCCTTCC others(8): Show TTCCTTCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02965.hp1 HG02970.hp2 HG01169.hp1 HG02965.hp1 HG02970.hp2	a0004 a0013 a0015 a0004 a0013 a0015	a0004c0024 a0013c0005 a0015c0004 a0004c0024 a0013c0005 a0015c0004	a0004c0024t0001 a0013c0005t0001 a0015c0004t0002 a0004c0024t0001 a0013c0005t0001 a0015c0004t0002	a0004c0024t0001g0001 a0013c0005t0001g0014 a0015c0004t0002g0024 a0004c0024t0001g0001 a0013c0005t0001g0014 a0015c0004t0002g0024	3	24	0.1250	15	c.344 others(34): Show c.3443+5364_3443+5378dupGGGAGGGAGGAAGGA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	22/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65278031	C C	CCTTTTCT others(8): Show CCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02886.hp2 HG02451.hp1 HG02886.hp2	a0002 a0005 a0002 a0005	a0002c0009 a0005c0011 a0002c0009 a0005c0011	a0002c0009t0001 a0005c0011t0002 a0002c0009t0001 a0005c0011t0002	a0002c0009t0001g0012 a0005c0011t0002g0018 a0002c0009t0001g0012 a0005c0011t0002g0018	2	24	0.0833	15	c.202 others(36): Show c.2023+17817_2023+17831dupAAAAGAAAAGAAAAG	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65519709	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0017 a0017	a0017c0014 a0017c0014	a0017c0014t0001 a0017c0014t0001	a0017c0014t0001g0005 a0017c0014t0001g0005	1	24	0.0417	15	c.-33 others(36): Show c.-332-23717_-332-23716insTATATATATATATAT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	2/42			chr6	TogoVar
EZH2_chr7_148802383_148889291	148839053	T T	TAAGGAAG others(8): Show TAAGGAAGGAAGGAGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0377 a0001c0003t0001g0377	1	380	0.0026	15	c.247 others(32): Show c.247-6304_247-6303insCCTCCTTCCTTCCTT	EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding	3/19			chr7	TogoVar
F10_chr13_113117799_113154529	113154165	A A	AGGAGGGG others(8): Show AGGAGGGGCGTGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	412	0.0024	15	c.46 others(26): Show c.4648_*4649insGGAGGGGCGTGGGGG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4637		chr13	TogoVar
F10_chr13_113117799_113154529	113154274	G G	GGCGGGGC others(8): Show GGCGGGGCGCGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0299 a0001c0002t0001g0299	1	412	0.0024	15	c.47 others(26): Show c.4757_*4758insGCGGGGCGCGGGGGA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4746		chr13	TogoVar
F10_chr13_113117799_113154529	113154300	G G	GGGGGAGG others(8): Show GGGGGAGGCGGGGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0189 a0009c0013t0001g0189	1	412	0.0024	15	c.47 others(26): Show c.4783_*4784insGGGGAGGCGGGGCGC	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4772		chr13	TogoVar
F11R_chr1_160990211_161026152	161005167	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0049 a0001c0001t0015g0049	1	392	0.0026	15	c.65- others(30): Show c.65-3829_65-3815dupATTATTATTATTATT	F11R	ENSG00000158769.19	transcript	ENST00000368026.11	protein_coding	1/9			chr1	TogoVar
F13A1_chr6_6139084_6325662	6313280	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA21309.hp2 HG02040.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0198 a0002c0002t0001g0197 a0001c0001t0001g0198 a0002c0002t0001g0197	2	292	0.0069	15	c.130 others(32): Show c.130+5240_130+5254dupAAAAAAAAAAAAAAA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	2/14			chr6	TogoVar
F2RL3_chr19_16883999_16897606	16888395	G G	GTTTTTTT others(8): Show GTTTTTTTTTTGTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0002 a0002c0002t0016g0002	1	400	0.0025	15	c.-79 others(24): Show c.-795_-794insTTTTTTTTTTGTTTT	F2RL3	ENSG00000127533.4	transcript	ENST00000248076.4	protein_coding		603		chr19	TogoVar
F5_chr1_169506951_169591481	169555621	T T	TCACTGTT others(8): Show TCACTGTTGGTGGGAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp2 others(122): Show HG00099.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG04115.hp2 HG04184.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18979.hp2 NA18985.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19082.hp2 NA19086.hp2 NA19089.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(25): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0017 a0019 a0021 a0022 a0028 a0031 a0033 a0034 a0035 a0040 a0043 a0044 a0045	a0001c0001 a0001c0076 a0002c0019 others(31): Show a0001c0001 a0001c0076 a0002c0019 a0003c0015 a0003c0018 a0004c0031 a0004c0051 a0005c0006 a0005c0056 a0006c0010 a0007c0013 a0008c0014 a0009c0016 a0009c0029 a0010c0012 a0011c0017 a0011c0036 a0012c0024 a0013c0030 a0014c0039 a0016c0035 a0017c0037 a0019c0038 a0021c0053 a0022c0055 a0028c0046 a0031c0054 a0033c0049 a0034c0047 a0035c0057 a0040c0052 a0043c0050 a0044c0048 a0045c0045	a0001c0001t0002 a0001c0076t0002 a0002c0019t0001 others(39): Show a0001c0001t0002 a0001c0076t0002 a0002c0019t0001 a0002c0019t0018 a0003c0015t0004 a0003c0015t0014 a0003c0018t0003 a0004c0031t0001 a0004c0031t0003 a0004c0051t0003 a0005c0006t0001 a0005c0056t0001 a0006c0010t0005 a0007c0013t0002 a0007c0013t0006 a0008c0014t0001 a0008c0014t0013 a0009c0016t0003 a0009c0029t0001 a0009c0029t0006 a0010c0012t0002 a0011c0017t0004 a0011c0036t0003 a0012c0024t0007 a0012c0024t0012 a0013c0030t0001 a0014c0039t0001 a0016c0035t0004 a0017c0037t0003 a0017c0037t0004 a0019c0038t0005 a0021c0053t0003 a0022c0055t0001 a0028c0046t0008 a0031c0054t0002 a0033c0049t0001 a0034c0047t0006 a0035c0057t0011 a0040c0052t0002 a0043c0050t0005 a0044c0048t0016 a0045c0045t0005	a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0090 others(121): Show a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0076t0002g0120 a0002c0019t0001g0053 a0002c0019t0001g0104 a0002c0019t0001g0143 a0002c0019t0001g0284 a0002c0019t0018g0121 a0003c0015t0004g0040 a0003c0015t0004g0088 a0003c0015t0004g0089 a0003c0015t0004g0123 a0003c0015t0004g0124 a0003c0015t0014g0085 a0003c0018t0003g0026 a0003c0018t0003g0048 a0003c0018t0003g0091 a0003c0018t0003g0114 a0003c0018t0003g0117 a0004c0031t0001g0108 a0004c0031t0003g0084 a0004c0031t0003g0115 a0004c0051t0003g0279 a0005c0006t0001g0080 a0005c0006t0001g0093 a0005c0006t0001g0118 a0005c0006t0001g0119 a0005c0006t0001g0122 a0005c0006t0001g0125 a0005c0006t0001g0130 a0005c0006t0001g0131 a0005c0006t0001g0280 a0005c0006t0001g0294 a0005c0056t0001g0054 a0006c0010t0005g0055 a0006c0010t0005g0078 a0006c0010t0005g0079 a0006c0010t0005g0081 a0006c0010t0005g0082 a0006c0010t0005g0106 a0006c0010t0005g0107 a0006c0010t0005g0138 a0007c0013t0002g0041 a0007c0013t0002g0077 a0007c0013t0002g0278 a0007c0013t0002g0282 a0007c0013t0002g0285 a0007c0013t0006g0283 a0008c0014t0001g0018 a0008c0014t0001g0095 a0008c0014t0001g0096 a0008c0014t0001g0116 a0008c0014t0001g0144 a0008c0014t0013g0132 a0009c0016t0003g0043 a0009c0016t0003g0051 a0009c0016t0003g0056 a0009c0016t0003g0065 a0009c0016t0003g0071 a0009c0029t0001g0038 a0009c0029t0001g0059 a0009c0029t0006g0074 a0010c0012t0002g0037 a0010c0012t0002g0042 a0010c0012t0002g0050 a0010c0012t0002g0061 a0010c0012t0002g0062 a0010c0012t0002g0063 a0010c0012t0002g0064 a0011c0017t0004g0002 a0011c0017t0004g0060 a0011c0017t0004g0066 a0011c0017t0004g0068 a0011c0036t0003g0049 a0011c0036t0003g0286 a0012c0024t0007g0047 a0012c0024t0007g0067 a0012c0024t0007g0072 a0012c0024t0012g0044 a0013c0030t0001g0035 a0013c0030t0001g0052 a0013c0030t0001g0058 a0014c0039t0001g0127 a0014c0039t0001g0139 a0016c0035t0004g0069 a0016c0035t0004g0070 a0017c0037t0003g0045 a0017c0037t0004g0046 a0019c0038t0005g0112 a0019c0038t0005g0142 a0021c0053t0003g0126 a0022c0055t0001g0099 a0028c0046t0008g0291 a0031c0054t0002g0281 a0033c0049t0001g0036 a0034c0047t0006g0057 a0035c0057t0011g0076 a0040c0052t0002g0109 a0043c0050t0005g0097 a0044c0048t0016g0073 a0045c0045t0005g0075	125	306	0.4085	15	c.953 others(30): Show c.953-275_953-274insGTCCCACCAACAGTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169556425	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01069.hp1 HG01071.hp1 others(22): Show HG00423.hp1 HG01069.hp1 HG01071.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01993.hp1 HG02630.hp1 HG02818.hp1 HG02922.hp2 HG03130.hp2 HG03516.hp1 HG03654.hp1 HG06807.hp1 NA18939.hp2 NA18951.hp2 NA18991.hp2 NA18998.hp2 NA19000.hp1 NA19012.hp1 NA19067.hp2 NA19082.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0041	a0001c0002 a0002c0003 a0002c0009 others(11): Show a0001c0002 a0002c0003 a0002c0009 a0002c0028 a0003c0005 a0003c0022 a0003c0025 a0003c0075 a0004c0021 a0004c0023 a0005c0056 a0007c0041 a0008c0042 a0041c0074	a0001c0002t0002 a0002c0003t0001 a0002c0009t0001 others(11): Show a0001c0002t0002 a0002c0003t0001 a0002c0009t0001 a0002c0028t0001 a0003c0005t0003 a0003c0022t0004 a0003c0025t0003 a0003c0075t0004 a0004c0021t0001 a0004c0023t0003 a0005c0056t0001 a0007c0041t0008 a0008c0042t0001 a0041c0074t0005	a0001c0002t0002g0174 a0001c0002t0002g0197 a0001c0002t0002g0207 others(22): Show a0001c0002t0002g0174 a0001c0002t0002g0197 a0001c0002t0002g0207 a0002c0003t0001g0220 a0002c0003t0001g0238 a0002c0009t0001g0181 a0002c0009t0001g0183 a0002c0009t0001g0185 a0002c0028t0001g0175 a0002c0028t0001g0182 a0003c0005t0003g0032 a0003c0005t0003g0217 a0003c0005t0003g0218 a0003c0022t0004g0016 a0003c0025t0003g0233 a0003c0075t0004g0039 a0004c0021t0001g0221 a0004c0023t0003g0155 a0004c0023t0003g0186 a0004c0023t0003g0198 a0005c0056t0001g0054 a0007c0041t0008g0017 a0008c0042t0001g0164 a0008c0042t0001g0204 a0041c0074t0005g0292	25	306	0.0817	15	c.952 others(30): Show c.952+206_952+220dupTTTTTTTTTTTTTTT	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169577560	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0149 a0002c0009t0001g0149	1	306	0.0033	15	c.250 others(32): Show c.250+4870_250+4871insATATATATATATATA	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	2/24			chr1	TogoVar
F7_chr13_113100791_113125685	113105040	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02976.hp1 others(3): Show HG02257.hp1 HG02258.hp2 HG02976.hp1 HG03225.hp2 HG03486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0106 a0001c0001t0001g0161 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0106 a0001c0001t0001g0161 a0001c0001t0001g0169	6	400	0.0150	15	c.-80 others(24): Show c.-802_-801insAAAAAAAATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		750		chr13	TogoVar
F7_chr13_113100791_113125685	113105040	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 NA19003.hp1 NA19054.hp1 others(1): Show HG01257.hp2 NA19003.hp1 NA19054.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0101 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0101 a0001c0001t0001g0191	4	400	0.0100	15	c.-80 others(24): Show c.-802_-801insAAAAAATATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		750		chr13	TogoVar
F7_chr13_113100791_113125685	113105040	A A	AAAAATAT others(8): Show AAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 NA19007.hp1 HG00639.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0049 a0001c0001t0001g0011 a0001c0001t0001g0049	2	400	0.0050	15	c.-80 others(24): Show c.-802_-801insAAAATATATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		750		chr13	TogoVar
F8A2_chrX_155377095_155388801	155384120	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02630.hp1 others(3): Show HG01891.hp2 HG02055.hp1 HG02630.hp1 HG02897.hp2 HG03098.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	267	0.0225	15	c.89 others(24): Show c.890_*891insTTTTTTTTTTTTTTT	F8A2	ENSG00000288709.1	transcript	ENST00000369505.5	protein_coding		320		chrX	TogoVar
F8A3_chrX_155451914_155463620	155456569	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01175.hp2 HG01346.hp2 others(2): Show HG00741.hp2 HG01175.hp2 HG01346.hp2 HG02004.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	5	270	0.0185	15	c.91 others(24): Show c.915_*916insTTTTTTTTTTTTTTT	F8A3	ENSG00000277150.2	transcript	ENST00000622749.2	protein_coding		344		chrX	TogoVar
FA2H_chr16_74707969_74779820	74741773	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	388	0.0026	15	c.271 others(32): Show c.271-1659_271-1658insATATATATATATATA	FA2H	ENSG00000103089.9	transcript	ENST00000219368.8	protein_coding	1/6			chr16	TogoVar
FA2H_chr16_74707969_74779820	74751679	C C	CGGACAGC others(8): Show CGGACAGCAGCTTCGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02145.hp1 others(7): Show HG01884.hp2 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02572.hp1 HG02647.hp2 HG02922.hp2 HG02970.hp1 HG03579.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0022	a0001c0001t0001 a0001c0003t0005 a0001c0004t0025 others(3): Show a0001c0001t0001 a0001c0003t0005 a0001c0004t0025 a0001c0005t0012 a0001c0008t0009 a0001c0022t0016	a0001c0001t0001g0102 a0001c0003t0005g0367 a0001c0003t0005g0369 others(7): Show a0001c0001t0001g0102 a0001c0003t0005g0367 a0001c0003t0005g0369 a0001c0003t0005g0370 a0001c0003t0005g0371 a0001c0004t0025g0212 a0001c0005t0012g0368 a0001c0008t0009g0372 a0001c0008t0009g0373 a0001c0022t0016g0366	10	388	0.0258	15	c.271 others(34): Show c.271-11579_271-11565dupACGAAGCTGCTGTCC	FA2H	ENSG00000103089.9	transcript	ENST00000219368.8	protein_coding	1/6			chr16	TogoVar
FAAH2_chrX_57281706_57494193	57288338	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0276 a0001c0003t0001g0276	1	282	0.0036	15	c.192 others(32): Show c.192+1336_192+1350dupTTTTTTTTTTTTTTT	FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAAP100_chr17_81534891_81557353	81535255	T T	TCACCATC others(8): Show TCACCATCCCCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 NA19043.hp1 HG02809.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0034 a0002c0002 a0002c0034	a0002c0002t0002 a0002c0034t0019 a0002c0002t0002 a0002c0034t0019	a0002c0002t0002g0067 a0002c0034t0019g0273 a0002c0002t0002g0067 a0002c0034t0019g0273	2	436	0.0046	15	c.55 others(26): Show c.5563_*5564insGTGATGGGGATGGTG	FAAP100	ENSG00000185504.17	transcript	ENST00000327787.13	protein_coding		4635		chr17	TogoVar
FABP2_chr4_119312250_119327138	119319647	C C	CATAATAA others(8): Show CATAATAATAATAATA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp2 HG03471.hp2 NA19030.hp2 others(1): Show HG02622.hp2 HG03471.hp2 NA19030.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0019 a0001c0001t0004g0047 a0001c0001t0002g0019 a0001c0001t0004g0047	4	420	0.0095	15	c.241 others(27): Show c.241-19_241-5dupTATTATTATTATTAT	FABP2	ENSG00000145384.4	transcript	ENST00000274024.4	protein_coding	2/3			chr4	TogoVar
FADS1_chr11_61794627_61822003	61821426	T T	TTGAATAA others(8): Show TTGAATAACCTTAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	272	0.0037	15	c.-44 others(26): Show c.-4498_-4497insTATTAAGGTTATTCA	FADS1	ENSG00000149485.19	transcript	ENST00000350997.12	protein_coding		4424		chr11	TogoVar
FADS2_chr11_61823300_61872354	61824502	G G	GAAAGAAA others(8): Show GAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01433.hp1 NA18951.hp2 others(4): Show HG00609.hp2 HG01433.hp1 NA18951.hp2 NA18960.hp2 NA19003.hp2 NA19004.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0036 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0067 a0001c0001t0001g0083 a0001c0001t0001g0087	7	280	0.0250	15	c.-38 others(26): Show c.-3889_-3888insAAAGAAAGAAAGAAA	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding		3797		chr11	TogoVar
FADS2_chr11_61823300_61872354	61824502	G G	GAGAGAGA others(8): Show GAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01928.hp1 HG01361.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0247 a0001c0001t0001g0205 a0001c0001t0001g0247	2	280	0.0071	15	c.-38 others(26): Show c.-3889_-3888insAGAGAGAGAGAGAGA	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding		3797		chr11	TogoVar
FADS2_chr11_61823300_61872354	61853276	T T	TCCCTCCC others(8): Show TCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG06807.hp2 NA19240.hp1 HG02922.hp2 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0045 a0001c0001t0001g0073 a0001c0001t0004g0042 a0001c0001t0001g0045 a0001c0001t0001g0073 a0001c0001t0004g0042	3	280	0.0107	15	c.745 others(32): Show c.745-3735_745-3734insCCCTCCCTCCCTCCC	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding	5/11			chr11	TogoVar

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