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
FBN1_chr15_48403313_48650709	48568053	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18747.hp1 NA18978.hp2 HG03486.hp1 NA18747.hp1 NA18978.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0026 a0002c0003 a0001c0001 a0001c0026 a0002c0003	a0001c0001t0024 a0001c0026t0021 a0002c0003t0006 a0001c0001t0024 a0001c0026t0021 a0002c0003t0006	a0001c0001t0024g0102 a0001c0026t0021g0191 a0002c0003t0006g0172 a0001c0001t0024g0102 a0001c0026t0021g0191 a0002c0003t0006g0172	3	252	0.0119	23	c.538 others(42): Show c.538+28207_538+28229dupCTTTCTTTCTTTCTTTCTTTCTT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FBN2_chr5_128252909_128543245	128539931	C C	CATATATC others(16): Show CATATATCATATATCATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG02109.hp1 HG00099.hp2 HG02109.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0191 a0004c0005t0001g0199 a0004c0005t0001g0191 a0004c0005t0001g0199	2	106	0.0189	23	c.-23 others(34): Show c.-2329_-2328insATGATATATGATATATGATATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1687		chr5	TogoVar
FBP1_chr9_94598133_94644518	94619874	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03209.hp2 HG02897.hp2 HG03209.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0005c0010t0002 a0001c0001t0001 a0005c0010t0002	a0001c0001t0001g0034 a0005c0010t0002g0058 a0001c0001t0001g0034 a0005c0010t0002g0058	2	22	0.0909	23	c.333 others(38): Show c.333+432_333+454dupTTTTTTTTTTTTTTTTTTTTTTT	FBP1	ENSG00000165140.12	transcript	ENST00000375326.9	protein_coding	2/6			chr9	TogoVar
FBP2_chr9_94553720_94598824	94579050	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02970.hp2 NA18906.hp1 others(2): Show HG01891.hp2 HG02970.hp2 NA18906.hp1 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0001g0131 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0001g0131 a0001c0001t0001g0138	5	43	0.1163	23	c.426 others(40): Show c.426+5526_426+5527insTTTTTTTTTTTTTTTTTTTTTTT	FBP2	ENSG00000130957.5	transcript	ENST00000375337.4	protein_coding	3/6			chr9	TogoVar
FBRSL1_chr12_132485151_132590188	132569284	G G	GAAGGGTG others(16): Show GAAGGGTGGCCAGGGAGCAGGGCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03195.hp2 HG02622.hp2 HG03195.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0006 a0001c0012t0006	a0001c0012t0006g0085 a0001c0012t0006g0086 a0001c0012t0006g0085 a0001c0012t0006g0086	2	346	0.0058	23	c.692 others(38): Show c.692-641_692-619dupAAGGGTGGCCAGGGAGCAGGGCT	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132578367	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0002 a0016c0014t0002	a0016c0014t0002g0205 a0016c0014t0002g0205	1	342	0.0029	23	c.183 others(42): Show c.1834+1436_1834+1437insCACACACACACACACACACACAC	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	15/18			chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132587126	A A	AGCTGGAG others(16): Show AGCTGGAGGGTGGACGGCAGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0270 a0002c0004t0001g0270	1	212	0.0047	23	c.33 others(34): Show c.3348_*3349insGCTGGAGGGTGGACGGCAGTGCG	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding		1939		chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132587421	A A	AAGGGAGG others(16): Show AAGGGAGGACGGCAGTGCGGCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01109.hp1 others(2): Show HG00639.hp1 HG00741.hp1 HG01109.hp1 HG01257.hp1 HG01258.hp2	a0002 a0030 a0002 a0030	a0002c0002 a0002c0024 a0030c0073 a0002c0002 a0002c0024 a0030c0073	a0002c0002t0001 a0002c0024t0001 a0030c0073t0001 a0002c0002t0001 a0002c0024t0001 a0030c0073t0001	a0002c0002t0001g0028 a0002c0002t0001g0266 a0002c0024t0001g0339 others(2): Show a0002c0002t0001g0028 a0002c0002t0001g0266 a0002c0024t0001g0339 a0002c0024t0001g0340 a0030c0073t0001g0235	5	346	0.0145	23	c.36 others(34): Show c.3643_*3644insAGGGAGGACGGCAGTGCGGCTGG	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding		2234		chr12	TogoVar
FBXL13_chr7_102806189_103079796	102834086	A A	AAGGAAGG others(16): Show AAGGAAGGAAGGAAGGAAGGAAAG	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0295 a0001c0002t0001g0295	1	208	0.0048	23	c.199 others(42): Show c.1990-1113_1990-1112insCTTTCCTTCCTTCCTTCCTTCCT	FBXL13	ENSG00000161040.19	transcript	ENST00000440067.4	protein_coding	18/20			chr7	TogoVar
FBXL13_chr7_102806189_103079796	102867695	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0307 a0006c0007t0001g0307	1	144	0.0069	23	c.190 others(42): Show c.1905+9771_1905+9772insAAAAATATATATATATATATATA	FBXL13	ENSG00000161040.19	transcript	ENST00000440067.4	protein_coding	17/20			chr7	TogoVar
FBXL17_chr5_107854035_108387098	107980664	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0173	1	54	0.0185	23	c.182 others(44): Show c.1822+40260_1822+40261insAAATATATATATATATATATATA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	107980664	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0093 a0001c0009t0001g0093	1	54	0.0185	23	c.182 others(44): Show c.1822+40260_1822+40261insAAAAAAAAAAAAATATATATATA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	107980664	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0161 a0001c0002t0006g0161	1	54	0.0185	23	c.182 others(44): Show c.1822+40260_1822+40261insAAAAAAAAAAAAAAATATATATA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108002182	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0032 a0001c0002t0013g0032	1	72	0.0139	23	c.182 others(44): Show c.1822+18742_1822+18743insAAAAAAAAAAAAAAAAAAAAAAA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108007646	G G	GTATCTTA others(16): Show GTATCTTAAAACAACTAATTTAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01243.hp2 others(16): Show HG01109.hp2 HG01243.hp1 HG01243.hp2 HG02040.hp1 HG02055.hp1 HG02145.hp1 HG02717.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp1 HG03704.hp1 HG06807.hp1 NA18906.hp2 NA19030.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0004 a0001c0009 others(3): Show a0001c0001 a0001c0004 a0001c0009 a0003c0005 a0004c0006 a0005c0007	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 others(12): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0056 a0001c0001t0058 a0001c0004t0065 a0001c0009t0001 a0003c0005t0003 a0003c0005t0015 a0003c0005t0059 a0004c0006t0051 a0004c0006t0062 a0005c0007t0001	a0001c0001t0001g0090 a0001c0001t0009g0033 a0001c0001t0011g0019 others(16): Show a0001c0001t0001g0090 a0001c0001t0009g0033 a0001c0001t0011g0019 a0001c0001t0012g0050 a0001c0001t0014g0048 a0001c0001t0014g0052 a0001c0001t0014g0054 a0001c0001t0014g0063 a0001c0001t0056g0129 a0001c0001t0058g0107 a0001c0004t0065g0244 a0001c0009t0001g0093 a0003c0005t0003g0225 a0003c0005t0015g0222 a0003c0005t0015g0223 a0003c0005t0059g0220 a0004c0006t0051g0074 a0004c0006t0062g0076 a0005c0007t0001g0079	19	241	0.0788	23	c.182 others(44): Show c.1822+13278_1822+13279insTTTAAATTAGTTGTTTTAAGATA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108223446	A A	AATTTATA others(16): Show AATTTATACAGTAACAAATTTCAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01884.hp2 HG01891.hp1 others(13): Show HG01192.hp2 HG01884.hp2 HG01891.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02572.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp2 HG03139.hp1 HG03471.hp2 HG03704.hp1 NA18906.hp1 NA19030.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0055 a0001c0002t0013 a0002c0003t0003 a0005c0007t0001 a0005c0007t0005	a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0219 others(13): Show a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0219 a0001c0001t0002g0091 a0001c0001t0003g0089 a0001c0001t0004g0087 a0001c0001t0004g0215 a0001c0001t0005g0085 a0001c0001t0005g0086 a0001c0001t0009g0033 a0001c0001t0015g0092 a0001c0001t0055g0082 a0001c0002t0013g0032 a0002c0003t0003g0236 a0005c0007t0001g0079 a0005c0007t0005g0078	16	242	0.0661	23	c.161 others(40): Show c.1614+652_1614+674dupCTGAAATTTGTTACTGTATAAAT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	5/8			chr5	TogoVar
FBXL7_chr5_15495180_15944793	15927764	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG00738.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0011 a0001c0001t0004g0092 a0001c0001t0001g0011 a0001c0001t0004g0092	2	62	0.0323	23	c.128 others(38): Show c.128-125_128-103dupAAAAAAAAAAAAAAAAAAAAAAA	FBXL7	ENSG00000183580.10	transcript	ENST00000504595.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
FBXO16_chr8_28423412_28495229	28460246	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03579.hp1 HG02630.hp2 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0146 a0003c0003t0001g0226 a0003c0003t0001g0146 a0003c0003t0001g0226	2	313	0.0064	23	c.343 others(40): Show c.343-3317_343-3316insTATATATATATATATATATATAT	FBXO16	ENSG00000214050.8	transcript	ENST00000380254.7	protein_coding	4/8			chr8	TogoVar
FBXO21_chr12_117136991_117195470	117195184	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0218 a0001c0001t0034g0218	1	82	0.0122	23	c.-47 others(34): Show c.-4729_-4728insAAAAAAAAAAAAAAAAAAAAAAA	FBXO21	ENSG00000135108.16	transcript	ENST00000622495.5	protein_coding		4715		chr12	TogoVar
FBXO31_chr16_87321987_87388776	87365010	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	15	0.0667	23	c.341 others(40): Show c.341-4645_341-4644insATATATATATATATATATATATA	FBXO31	ENSG00000103264.18	transcript	ENST00000311635.12	protein_coding	1/8			chr16	TogoVar
FBXO34_chr14_55266421_55358611	55323214	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0140 a0001c0001t0003g0140	1	181	0.0055	23	c.-10 others(42): Show c.-10-27167_-10-27166insTATATATATATATATATATATAT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1			chr14	TogoVar
FBXO34_chr14_55266421_55358611	55323216	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0115 a0001c0001t0004g0115	1	148	0.0068	23	c.-10 others(42): Show c.-10-27165_-10-27164insTATATATATATATATATATATAT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1			chr14	TogoVar
FBXO34_chr14_55266421_55358611	55323225	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0148 a0004c0004t0003g0148	1	238	0.0042	23	c.-10 others(42): Show c.-10-27155_-10-27154insATATATATATATATTTTTTTTTT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55323226	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0145 a0001c0001t0004g0145	1	156	0.0064	23	c.-10 others(42): Show c.-10-27155_-10-27154insATATATATATATATATATATATA	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1			chr14	TogoVar
FBXO34_chr14_55266421_55358611	55338048	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	134	0.0075	23	c.-10 others(42): Show c.-10-12314_-10-12313insTTTTTTTTTTTTTTTTTTTTTTT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO36_chr2_229917503_230018119	229954234	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02055.hp1 NA19083.hp2 HG00673.hp2 HG02055.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0178 a0002c0002t0001g0273 a0002c0002t0001g0276 a0001c0001t0002g0178 a0002c0002t0001g0273 a0002c0002t0001g0276	3	15	0.2000	23	c.97- others(40): Show c.97-22003_97-21981dupTTTTTTTTTTTTTTTTTTTTTTT	FBXO36	ENSG00000153832.12	transcript	ENST00000283946.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
FBXO3_chr11_33735944_33779520	33740546	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG03492.hp1 HG03942.hp1 HG02300.hp2 HG03492.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0048 a0001c0001t0001g0211 a0001c0001t0001g0007 a0001c0001t0001g0048 a0001c0001t0001g0211	3	252	0.0119	23	c.13 others(34): Show c.1361_*1362insTTTTTTTTTTTTTTTTTTTTTTT	FBXO3	ENSG00000110429.14	transcript	ENST00000265651.8	protein_coding		397		chr11	TogoVar
FBXO3_chr11_33735944_33779520	33757656	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	151	0.0066	23	c.473 others(38): Show c.473+808_473+830dupTTTTTTTTTTTTTTTTTTTTTTT	FBXO3	ENSG00000110429.14	transcript	ENST00000265651.8	protein_coding	4/10			chr11	TogoVar
FBXO42_chr1_16241840_16357480	16283494	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0268 a0002c0005t0005g0268	1	166	0.0060	23	c.502 others(42): Show c.502+11266_502+11288dupAAAAAAAAAAAAAAAAAAAAAAA	FBXO42	ENSG00000037637.11	transcript	ENST00000375592.8	protein_coding	4/9			chr1	TogoVar
FBXO42_chr1_16241840_16357480	16337883	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0214 a0003c0004t0004g0214	1	22	0.0455	23	c.-18 others(42): Show c.-18+14349_-18+14371dupTTTTTTTTTTTTTTTTTTTTTTT	FBXO42	ENSG00000037637.11	transcript	ENST00000375592.8	protein_coding	1/9			chr1	TogoVar
FBXO42_chr1_16241840_16357480	16350757	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01891.hp1 HG02698.hp2 others(3): Show HG01361.hp1 HG01891.hp1 HG02698.hp2 HG02818.hp2 NA19043.hp1 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0005 a0001c0001t0002 a0002c0005t0005	a0001c0001t0002g0058 a0001c0001t0002g0114 a0001c0001t0002g0117 others(3): Show a0001c0001t0002g0058 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0142 a0001c0001t0002g0205 a0002c0005t0005g0268	6	31	0.1935	23	c.-18 others(40): Show c.-18+1497_-18+1498insCTTTCTTTCTTTCTTTCTTTCTT	FBXO42	ENSG00000037637.11	transcript	ENST00000375592.8	protein_coding	1/9			chr1	TogoVar
FBXO47_chr17_38931432_38972403	38945948	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0227 a0001c0001t0003g0227	1	181	0.0055	23	c.617 others(38): Show c.617-813_617-812insATATATTTTTTTTTTTTTTTTTT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXW11_chr5_171856549_172011638	171952447	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0054 a0001c0002t0003g0054	1	34	0.0294	23	c.147 others(40): Show c.147+5149_147+5150insAAATATATATATATATATATATA	FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	2/13			chr5	TogoVar
FBXW11_chr5_171856549_172011638	171952447	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA20905.hp1 HG03139.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0111 a0001c0001t0001g0116	2	35	0.0571	23	c.147 others(40): Show c.147+5149_147+5150insAAAAATATATATATATATATATA	FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	2/13			chr5	TogoVar
FBXW11_chr5_171856549_172011638	171952447	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA19030.hp1 NA18960.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0099 a0001c0001t0001g0036 a0001c0001t0001g0099	2	35	0.0571	23	c.147 others(40): Show c.147+5149_147+5150insAAAAAAAAATATATATATATATA	FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	2/13			chr5	TogoVar
FBXW11_chr5_171856549_172011638	171952448	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02523.hp1 HG02165.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0065 a0001c0001t0001g0066	2	149	0.0134	23	c.147 others(40): Show c.147+5148_147+5149insTATATATATATATATATATATAT	FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	2/13			chr5	TogoVar
FCHSD2_chr11_72831745_73147318	73096987	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01975.hp1 HG01081.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0167 a0001c0001t0001g0168	2	9	0.2222	23	c.120 others(42): Show c.120-13270_120-13248dupAAAAAAAAAAAAAAAAAAAAAAA	FCHSD2	ENSG00000137478.15	transcript	ENST00000409418.9	protein_coding	2/19			chr11	TogoVar
FEM1A_chr19_4786734_4806273	4799904	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01074.hp2 others(2): Show HG00738.hp1 HG00741.hp2 HG01074.hp2 HG01928.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0061 a0001c0001t0112 others(1): Show a0001c0001t0033 a0001c0001t0061 a0001c0001t0112 a0001c0001t0134	a0001c0001t0033g0000 a0001c0001t0061g0000 a0001c0001t0112g0000 others(1): Show a0001c0001t0033g0000 a0001c0001t0061g0000 a0001c0001t0112g0000 a0001c0001t0134g0000	5	71	0.0704	23	c.60 others(34): Show c.6047_*6069dupAAAAAAAAAAAAAAAAAAAAAAA	FEM1A	ENSG00000141965.5	transcript	ENST00000269856.5	protein_coding	1/1	6070	INFO_REALIGN_3_PRIME	chr19	TogoVar
FEM1B_chr15_68272745_68300862	68294830	A A	AAGAAAAC others(16): Show AAGAAAACAAAACTCTGCCTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0004 a0001c0001t0034g0004	1	310	0.0032	23	c.35 others(34): Show c.3589_*3611dupAGAAAACAAAACTCTGCCTTTTG	FEM1B	ENSG00000169018.6	transcript	ENST00000306917.5	protein_coding	2/2	3612	INFO_REALIGN_3_PRIME	chr15	TogoVar
FER1L5_chr2_96637764_96709883	96671106	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0069 a0003c0005t0001g0069	1	43	0.0233	23	c.149 others(40): Show c.1491+881_1491+882insAAAAAAAAAAAAAAAAAAAAAAA	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	18/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FER1L6_chr8_123846987_124125061	123974659	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0092 a0001c0008t0003g0092	1	75	0.0133	23	c.527 others(38): Show c.527-490_527-468dupAAAAAAAAAAAAAAAAAAAAAAA	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	7/40		INFO_REALIGN_3_PRIME	chr8	TogoVar
FERMT2_chr14_52852273_52956050	52902868	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA20300.hp2 HG02080.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0247 a0001c0001t0001g0149 a0001c0001t0001g0247	2	54	0.0370	23	c.392 others(40): Show c.392-9464_392-9442dupTTTTTTTTTTTTTTTTTTTTTTT	FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	3/14			chr14	TogoVar
FER_chr5_108742897_109201841	108927252	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0014 a0001c0013t0014	a0001c0013t0014g0095 a0001c0013t0014g0095	1	32	0.0313	23	c.123 others(44): Show c.1237-18859_1237-18858insTTTTTTTTTTTTTTTTTTTTTTT	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(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02074.hp2 HG02080.hp1 others(10): Show HG01515.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG04228.hp2 NA18946.hp2 NA18950.hp1 NA18954.hp1 NA18955.hp1 NA18964.hp2 NA18971.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 others(10): Show a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0061 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0072 a0001c0001t0003g0094 a0001c0001t0003g0105	13	293	0.0444	23	c.109 others(40): Show c.1097-875_1097-874insCTTTTTTTTTTTTTTTTTTTTTT	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	8/9			chr11	TogoVar
FEZ1_chr11_125437881_125501265	125449441	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0303 a0001c0001t0003g0303	1	281	0.0036	23	c.109 others(40): Show c.1097-875_1097-874insCTTCTTTTTTTTTTTTTTTTTTT	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	8/9			chr11	TogoVar
FEZ1_chr11_125437881_125501265	125493417	A A	AGAAAGAA others(16): Show AGAAAGAAAGAAAGAAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	259	0.0039	23	c.-46 others(40): Show c.-46+2703_-46+2704insCTTCTTCTTTCTTTCTTTCTTTC	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	1/9			chr11	TogoVar
FGA_chr4_154580275_154595742	154587748	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	426	0.0023	23	c.365 others(36): Show c.365-92_365-91insCCTTCTTTCTTTCTTTCTTTCTT	FGA	ENSG00000171560.18	transcript	ENST00000403106.8	protein_coding	3/4			chr4	TogoVar
FGD2_chr6_37000655_37034069	37028615	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG01071.hp2 others(2): Show HG00741.hp2 HG01069.hp2 HG01071.hp2 HG02559.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0012 a0002c0008 a0001c0002 a0001c0012 a0002c0008	a0001c0002t0013 a0001c0002t0022 a0001c0012t0022 others(1): Show a0001c0002t0013 a0001c0002t0022 a0001c0012t0022 a0002c0008t0013	a0001c0002t0013g0031 a0001c0002t0022g0079 a0001c0012t0022g0012 others(1): Show a0001c0002t0013g0031 a0001c0002t0022g0079 a0001c0012t0022g0012 a0002c0008t0013g0014	5	56	0.0893	23	c.46 others(32): Show c.469_*470insTTTTTTTTTTTTTTTTTTTTTTT	FGD2	ENSG00000146192.15	transcript	ENST00000274963.13	protein_coding	16/16	470	INFO_REALIGN_3_PRIME	chr6	TogoVar
FGD3_chr9_92942523_93041233	93033281	C C	CCTCCTCC others(16): Show CCTCCTCCTCCTCCCCGTCCCCTT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0192 a0001c0005t0002g0192	1	228	0.0044	23	c.178 others(40): Show c.1785+461_1785+483dupCTCCTCCCCGTCCCCTTCTCCTC	FGD3	ENSG00000127084.19	transcript	ENST00000375482.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
FGD4_chr12_32394558_32651050	32422288	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0151 a0002c0002t0003g0151	1	28	0.0357	23	c.166 others(42): Show c.166+22335_166+22357dupTTTTTTTTTTTTTTTTTTTTTTT	FGD4	ENSG00000139132.16	transcript	ENST00000534526.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar

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