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
FANCD2_chr3_10021437_10106932	10105770	AATTATAT others(8): Show AATTATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	193	0.0052	-15	c.45 others(26): Show c.4509_*4523delATTATATATATATAT	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding		3839		chr3	TogoVar
FANCI_chr15_89238979_89322131	89245334	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02965.hp1 HG03516.hp2 HG01243.hp2 HG02965.hp1 HG03516.hp2	a0001 a0001	a0001c0008 a0001c0024 a0001c0008 a0001c0024	a0001c0008t0004 a0001c0024t0001 a0001c0008t0004 a0001c0024t0001	a0001c0008t0004g0090 a0001c0008t0004g0091 a0001c0024t0001g0019 a0001c0008t0004g0090 a0001c0008t0004g0091 a0001c0024t0001g0019	3	35	0.0857	-15	c.-20 others(32): Show c.-20+1323_-20+1337delTTTTTTTTTTTTTTT	FANCI	ENSG00000140525.20	transcript	ENST00000310775.12	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr15	TogoVar
FANCL_chr2_58154247_58246325	58219162	AAAAAAAA others(8): Show AAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp1 HG02895.hp1 others(1): Show HG02615.hp2 HG02723.hp1 HG02895.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0070 a0001c0001t0001g0071 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072	4	372	0.0108	-15	c.374 others(32): Show c.374+2765_374+2779delATATATTTTTTTTTT	FANCL	ENSG00000115392.13	transcript	ENST00000233741.9	protein_coding	5/13			chr2	TogoVar
FANCL_chr2_58154247_58246325	58219164	AAAAAAAA others(8): Show AAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03540.hp1 NA20129.hp2 HG02145.hp1 HG03540.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0050 a0001c0001t0001g0080 a0001c0001t0001g0008 a0001c0001t0001g0050 a0001c0001t0001g0080	3	385	0.0078	-15	c.374 others(32): Show c.374+2763_374+2777delATATATATTTTTTTT	FANCL	ENSG00000115392.13	transcript	ENST00000233741.9	protein_coding	5/13			chr2	TogoVar
FANCL_chr2_58154247_58246325	58219166	AAAAAAAT others(8): Show AAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	384	0.0026	-15	c.374 others(32): Show c.374+2761_374+2775delATATATATATTTTTT	FANCL	ENSG00000115392.13	transcript	ENST00000233741.9	protein_coding	5/13			chr2	TogoVar
FANCL_chr2_58154247_58246325	58219168	AAAAATAT others(8): Show AAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp2 HG02896.hp1 others(1): Show HG02647.hp1 HG02809.hp2 HG02896.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0003g0015 others(1): Show a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0003g0015 a0001c0001t0003g0040	4	381	0.0105	-15	c.374 others(32): Show c.374+2759_374+2773delATATATATATATTTT	FANCL	ENSG00000115392.13	transcript	ENST00000233741.9	protein_coding	5/13			chr2	TogoVar
FANCM_chr14_45130930_45205890	45131628	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0183 a0003c0002t0001g0183	1	140	0.0071	-15	c.-44 others(26): Show c.-4403_-4389delAAAAAAAAAAAAAAA	FANCM	ENSG00000187790.12	transcript	ENST00000267430.10	protein_coding		4301		chr14	TogoVar
FANK1_chr10_125891564_126014592	125897998	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 NA18994.hp2 HG00621.hp2 HG00673.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017	3	185	0.0162	-15	c.13+ others(30): Show c.13+1365_13+1379delAAAAAAAAAAAAAAA	FANK1	ENSG00000203780.12	transcript	ENST00000368693.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
FARP1_chr13_98138094_98460176	98164288	GGGTGACG others(8): Show GGGTGACGGAACATCT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02280.hp1 others(10): Show HG02109.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02809.hp1 HG02976.hp2 HG03195.hp1 HG03453.hp2 HG03579.hp1 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0003 a0001c0001t0005 a0001c0001t0018 others(9): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0018 a0001c0001t0026 a0001c0001t0066 a0001c0001t0067 a0001c0001t0073 a0001c0002t0001 a0001c0002t0027 a0001c0002t0034 a0001c0002t0071 a0001c0011t0052	a0001c0001t0003g0162 a0001c0001t0005g0164 a0001c0001t0018g0166 others(10): Show a0001c0001t0003g0162 a0001c0001t0005g0164 a0001c0001t0018g0166 a0001c0001t0026g0148 a0001c0001t0026g0158 a0001c0001t0066g0159 a0001c0001t0067g0161 a0001c0001t0073g0160 a0001c0002t0001g0156 a0001c0002t0027g0163 a0001c0002t0034g0165 a0001c0002t0071g0157 a0001c0011t0052g0167	13	216	0.0602	-15	c.-24 others(34): Show c.-24+20799_-24+20813delTGACGGAACATCTGG	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98165710	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03471.hp1 NA18992.hp1 others(1): Show HG02135.hp1 HG03471.hp1 NA18992.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0001t0019 a0001c0001t0039 others(1): Show a0001c0001t0004 a0001c0001t0019 a0001c0001t0039 a0001c0005t0040	a0001c0001t0004g0198 a0001c0001t0019g0189 a0001c0001t0039g0017 others(1): Show a0001c0001t0004g0198 a0001c0001t0019g0189 a0001c0001t0039g0017 a0001c0005t0040g0175	4	30	0.1333	-15	c.-24 others(34): Show c.-24+22237_-24+22251delTTTTTTTTTTTTTTT	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98209796	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02886.hp1 HG02145.hp2 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0009 a0001c0003t0013 a0001c0002t0009 a0001c0003t0013	a0001c0002t0009g0201 a0001c0003t0013g0010 a0001c0002t0009g0201 a0001c0003t0013g0010	2	7	0.2857	-15	c.-23 others(32): Show c.-23-3405_-23-3391delAAAAAAAAAAAAAAA	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98287208	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02056.hp2 HG03471.hp2 others(1): Show HG00673.hp1 HG02056.hp2 HG03471.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0063 others(1): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0063 a0001c0002t0038	a0001c0001t0003g0055 a0001c0001t0007g0183 a0001c0001t0063g0026 others(1): Show a0001c0001t0003g0055 a0001c0001t0007g0183 a0001c0001t0063g0026 a0001c0002t0038g0171	4	16	0.2500	-15	c.172 others(34): Show c.172-56528_172-56514delTTTTTTTTTTTTTTT	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98309153	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0010 a0001c0003t0013g0010	1	21	0.0476	-15	c.172 others(34): Show c.172-34593_172-34579delTTTTTTTTTTTTTTT	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98314274	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03471.hp1 HG02559.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0039 a0001c0001t0005 a0001c0001t0039	a0001c0001t0005g0164 a0001c0001t0039g0017 a0001c0001t0005g0164 a0001c0001t0039g0017	2	19	0.1053	-15	c.172 others(34): Show c.172-29478_172-29464delTTTTTTTTTTTTTTT	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98408467	CAGGCACC others(8): Show CAGGCACCCGCCACCA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01243.hp1 HG01255.hp2 others(15): Show HG00621.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01516.hp2 HG01978.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02602.hp2 HG02698.hp1 HG03195.hp2 HG03239.hp1 HG03704.hp2 NA18951.hp2 NA18980.hp1 NA18999.hp1 NA19000.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0008 a0001c0001 a0001c0002 a0007c0008	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(10): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0057 a0001c0001t0066 a0001c0001t0082 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0012 a0001c0002t0071 a0001c0002t0077 a0007c0008t0001	a0001c0001t0004g0204 a0001c0001t0005g0082 a0001c0001t0007g0002 others(15): Show a0001c0001t0004g0204 a0001c0001t0005g0082 a0001c0001t0007g0002 a0001c0001t0007g0184 a0001c0001t0057g0070 a0001c0001t0066g0159 a0001c0001t0082g0169 a0001c0002t0001g0032 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0112 a0001c0002t0002g0126 a0001c0002t0002g0194 a0001c0002t0006g0054 a0001c0002t0012g0200 a0001c0002t0071g0157 a0001c0002t0077g0152 a0007c0008t0001g0029	18	216	0.0833	-15	c.141 others(32): Show c.1415-870_1415-856delAGGCACCCGCCACCA	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	13/26			chr13	TogoVar
FARP2_chr2_241351285_241499841	241402868	ATATATAT others(8): Show ATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0056 a0001c0003t0001g0056	1	371	0.0027	-15	c.184 others(30): Show c.184-958_184-944delATATATATATATTTT	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
FARP2_chr2_241351285_241499841	241402874	ATATATAT others(8): Show ATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0240 a0001c0006t0001g0240	1	359	0.0028	-15	c.184 others(30): Show c.184-952_184-938delATATATTTTTTTTTT	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
FARS2_chr6_5256513_5776583	5341223	ATATATAT others(8): Show ATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	166	0.0060	-15	c.-21 others(34): Show c.-21-27325_-21-27311delATATATATATATTTT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5399127	TTTATTAT others(8): Show TTTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02451.hp2 HG03017.hp1 others(4): Show HG01109.hp2 HG02451.hp2 HG03017.hp1 HG03098.hp2 HG03195.hp2 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0010 a0001c0001 a0001c0004 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0001c0010t0002	a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0079 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0079 a0001c0001t0002g0124 a0001c0004t0002g0102 a0001c0004t0002g0147 a0001c0010t0002g0111	7	102	0.0686	-15	c.613 others(32): Show c.613-5380_613-5366delTATTATTATTATTAT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5399162	TATTATTA others(8): Show TATTATTATTATTATC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	168	0.0060	-15	c.613 others(32): Show c.613-5377_613-5363delTATTATTATTATCAT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5450685	TGGGAGGT others(8): Show TGGGAGGTAGTGTGCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00438.hp2 others(116): Show HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18999.hp1 NA18999.hp2 NA19005.hp2 NA19030.hp2 NA19043.hp1 NA19082.hp1 NA19082.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0010 a0002c0002 a0002c0008 a0004c0012 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0004t0002 a0001c0010t0002 a0002c0002t0001 a0002c0002t0002 a0002c0008t0002 a0004c0012t0002 a0005c0009t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(116): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0005g0163 a0001c0003t0001g0040 a0001c0003t0004g0041 a0001c0004t0001g0011 a0001c0004t0002g0102 a0001c0004t0002g0150 a0001c0010t0002g0111 a0002c0002t0001g0009 a0002c0002t0001g0013 a0002c0002t0001g0015 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0022 a0002c0002t0001g0031 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0043 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0072 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0002g0142 a0002c0002t0002g0162 a0002c0008t0002g0168 a0004c0012t0002g0151 a0005c0009t0002g0097	119	168	0.7083	-15	c.904 others(34): Show c.904+19515_904+19529delGGAGGTAGTGTGCCG	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5633262	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02647.hp1 HG01081.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0096 a0001c0004t0002g0095 a0001c0001t0002g0096 a0001c0004t0002g0095	2	50	0.0400	-15	c.121 others(36): Show c.1217+19959_1217+19973delTTTTTTTTTTTTTTT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FASTKD1_chr2_169523508_169578865	169547884	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG01192.hp2 others(35): Show HG00140.hp2 HG00423.hp1 HG01192.hp2 HG01358.hp2 HG01891.hp1 HG02129.hp2 HG02135.hp1 HG02559.hp2 HG02735.hp1 HG03195.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG04199.hp1 NA18949.hp2 NA18950.hp1 NA18953.hp2 NA18954.hp1 NA18961.hp1 NA18970.hp2 NA18975.hp1 NA18986.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19067.hp1 NA19072.hp1 NA19075.hp1 NA19077.hp1 NA19083.hp1 NA19087.hp2 NA19088.hp1 NA20752.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0004 a0003c0005 a0004c0008 others(1): Show a0002c0004 a0003c0005 a0004c0008 a0005c0009	a0002c0004t0001 a0003c0005t0001 a0004c0008t0001 others(1): Show a0002c0004t0001 a0003c0005t0001 a0004c0008t0001 a0005c0009t0001	a0002c0004t0001g0001 a0002c0004t0001g0060 a0002c0004t0001g0061 others(32): Show a0002c0004t0001g0001 a0002c0004t0001g0060 a0002c0004t0001g0061 a0002c0004t0001g0063 a0002c0004t0001g0064 a0002c0004t0001g0065 a0002c0004t0001g0066 a0002c0004t0001g0068 a0002c0004t0001g0069 a0002c0004t0001g0070 a0002c0004t0001g0071 a0002c0004t0001g0072 a0002c0004t0001g0073 a0002c0004t0001g0074 a0002c0004t0001g0075 a0002c0004t0001g0076 a0002c0004t0001g0077 a0002c0004t0001g0078 a0002c0004t0001g0079 a0002c0004t0001g0080 a0002c0004t0001g0082 a0002c0004t0001g0083 a0002c0004t0001g0084 a0002c0004t0001g0085 a0002c0004t0001g0086 a0002c0004t0001g0088 a0002c0004t0001g0089 a0002c0004t0001g0090 a0002c0004t0001g0093 a0002c0004t0001g0094 a0003c0005t0001g0290 a0004c0008t0001g0264 a0004c0008t0001g0265 a0004c0008t0001g0266 a0005c0009t0001g0148	38	96	0.3958	-15	c.121 others(34): Show c.1215-1195_1215-1181delTTTTTTTTTTTTTTT	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding	7/14			chr2	TogoVar
FASTKD1_chr2_169523508_169578865	169554278	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0358 a0002c0003t0001g0358	1	3	0.3333	-15	c.121 others(32): Show c.1214+831_1214+845delTTTTTTTTTTTTTTT	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding	7/14			chr2	TogoVar
FASTKD2_chr2_206760606_206801189	206793220	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0120 a0001c0001t0088g0120	1	133	0.0075	-15	c.14 others(26): Show c.1435_*1449delAAAAAAAAAAAAAAA	FASTKD2	ENSG00000118246.14	transcript	ENST00000402774.8	protein_coding	12/12	1435	INFO_REALIGN_3_PRIME	chr2	TogoVar
FASTKD5_chr20_3141519_3164865	3142121	TGCACTCC others(8): Show TGCACTCCCAGTATGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG03195.hp1 NA19240.hp1 HG02055.hp1 HG03195.hp1 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0007 a0002c0003t0001g0007	3	412	0.0073	-15	c.46 others(26): Show c.4640_*4654delCCATACTGGGAGTGC	FASTKD5	ENSG00000215251.5	transcript	ENST00000380266.4	protein_coding		4397		chr20	TogoVar
FASTK_chr7_151071624_151085809	151080874	TGCGAGCC others(8): Show TGCGAGCCAGGGAGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	-15	c.-12 others(24): Show c.-123_-109delGGCTCCCTGGCTCGC	FASTK	ENSG00000164896.21	transcript	ENST00000297532.11	protein_coding		66		chr7	TogoVar
FASTK_chr7_151071624_151085809	151084869	ACACACAC others(8): Show ACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	-15	c.-41 others(26): Show c.-4118_-4104delGTGTGTGTGTGTGTG	FASTK	ENSG00000164896.21	transcript	ENST00000297532.11	protein_coding		4061		chr7	TogoVar
FAT1_chr4_186582794_186728856	186605615	GGGAGGAG others(8): Show GGGAGGAGGAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01168.hp1 HG01169.hp1 others(2): Show HG01099.hp1 HG01168.hp1 HG01169.hp1 HG01433.hp1 HG02738.hp2	a0012 a0016 a0034 a0012 a0016 a0034	a0012c0007 a0016c0017 a0034c0030 a0012c0007 a0016c0017 a0034c0030	a0012c0007t0001 a0016c0017t0010 a0034c0030t0028 a0012c0007t0001 a0016c0017t0010 a0034c0030t0028	a0012c0007t0001g0176 a0012c0007t0001g0177 a0016c0017t0010g0282 others(1): Show a0012c0007t0001g0176 a0012c0007t0001g0177 a0016c0017t0010g0282 a0034c0030t0028g0001	5	336	0.0149	-15	c.103 others(34): Show c.10350+440_10350+454delTTCTCTTCCTCCTCC	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	17/26			chr4	TogoVar
FAT1_chr4_186582794_186728856	186610670	TTTATATA others(8): Show TTTATATAAATATAAA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03540.hp2 HG03579.hp1 HG02818.hp2 HG03540.hp2 HG03579.hp1	a0040 a0089 a0040 a0089	a0040c0034 a0089c0164 a0040c0034 a0089c0164	a0040c0034t0015 a0040c0034t0060 a0089c0164t0006 a0040c0034t0015 a0040c0034t0060 a0089c0164t0006	a0040c0034t0015g0074 a0040c0034t0060g0336 a0089c0164t0006g0098 a0040c0034t0015g0074 a0040c0034t0060g0336 a0089c0164t0006g0098	3	335	0.0090	-15	c.985 others(32): Show c.9854-670_9854-656delTTTATATTTATATAA	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	14/26			chr4	TogoVar
FAT3_chr11_92219818_92901473	92441641	TAAAAACA others(8): Show TAAAAACAAAACAAAA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp1 HG01884.hp2 others(10): Show HG01069.hp1 HG01243.hp1 HG01884.hp2 HG02145.hp1 HG02615.hp1 HG02622.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02976.hp2 HG03195.hp1 NA18906.hp2	a0001 a0002 a0007 others(7): Show a0001 a0002 a0007 a0010 a0023 a0028 a0029 a0032 a0037 a0044	a0001c0006 a0002c0031 a0007c0076 others(10): Show a0001c0006 a0002c0031 a0007c0076 a0007c0077 a0007c0078 a0007c0079 a0010c0073 a0023c0075 a0028c0074 a0029c0083 a0032c0082 a0037c0071 a0044c0080	a0001c0006t0068 a0002c0031t0007 a0007c0076t0002 others(10): Show a0001c0006t0068 a0002c0031t0007 a0007c0076t0002 a0007c0077t0057 a0007c0078t0002 a0007c0079t0061 a0010c0073t0027 a0023c0075t0063 a0028c0074t0085 a0029c0083t0009 a0032c0082t0073 a0037c0071t0053 a0044c0080t0042	a0001c0006t0068g0021 a0002c0031t0007g0028 a0007c0076t0002g0062 others(10): Show a0001c0006t0068g0021 a0002c0031t0007g0028 a0007c0076t0002g0062 a0007c0077t0057g0081 a0007c0078t0002g0065 a0007c0079t0061g0114 a0010c0073t0027g0050 a0023c0075t0063g0102 a0028c0074t0085g0014 a0029c0083t0009g0105 a0032c0082t0073g0013 a0037c0071t0053g0064 a0044c0080t0042g0084	13	116	0.1121	-15	c.329 others(36): Show c.3293-82992_3293-82978delAAAAACAAAACAAAA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27			chr11	TogoVar
FAT3_chr11_92219818_92901473	92554461	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01099.hp2 HG01891.hp1 others(26): Show HG00673.hp1 HG01099.hp2 HG01891.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02145.hp1 HG02572.hp2 HG02622.hp1 HG02698.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03927.hp1 HG04115.hp1 HG04204.hp1 HG06807.hp1 NA18906.hp1 NA19030.hp2 NA19065.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0010 a0012 a0013 a0017 a0018 a0022 a0024 a0027 a0031 a0032 a0040 a0041	a0001c0002 a0001c0035 a0001c0052 others(24): Show a0001c0002 a0001c0035 a0001c0052 a0001c0053 a0001c0086 a0002c0001 a0002c0003 a0003c0010 a0003c0011 a0003c0030 a0004c0009 a0004c0048 a0005c0008 a0008c0007 a0009c0039 a0010c0073 a0012c0022 a0013c0018 a0017c0070 a0018c0028 a0022c0024 a0024c0037 a0027c0017 a0031c0056 a0032c0082 a0040c0067 a0041c0068	a0001c0002t0081 a0001c0035t0032 a0001c0052t0014 others(25): Show a0001c0002t0081 a0001c0035t0032 a0001c0052t0014 a0001c0053t0039 a0001c0086t0067 a0002c0001t0003 a0002c0003t0021 a0003c0010t0070 a0003c0011t0072 a0003c0030t0005 a0004c0009t0001 a0004c0048t0046 a0005c0008t0010 a0008c0007t0004 a0008c0007t0048 a0009c0039t0029 a0010c0073t0027 a0012c0022t0003 a0013c0018t0064 a0017c0070t0001 a0018c0028t0078 a0022c0024t0010 a0024c0037t0055 a0027c0017t0001 a0031c0056t0071 a0032c0082t0073 a0040c0067t0060 a0041c0068t0036	a0001c0002t0081g0011 a0001c0035t0032g0068 a0001c0052t0014g0030 others(26): Show a0001c0002t0081g0011 a0001c0035t0032g0068 a0001c0052t0014g0030 a0001c0053t0039g0055 a0001c0086t0067g0001 a0002c0001t0003g0027 a0002c0003t0021g0043 a0003c0010t0070g0026 a0003c0011t0072g0018 a0003c0030t0005g0098 a0004c0009t0001g0094 a0004c0048t0046g0053 a0005c0008t0010g0067 a0008c0007t0004g0071 a0008c0007t0004g0092 a0008c0007t0048g0047 a0009c0039t0029g0106 a0010c0073t0027g0050 a0012c0022t0003g0072 a0013c0018t0064g0012 a0017c0070t0001g0029 a0018c0028t0078g0005 a0022c0024t0010g0044 a0024c0037t0055g0097 a0027c0017t0001g0037 a0031c0056t0071g0020 a0032c0082t0073g0013 a0040c0067t0060g0032 a0041c0068t0036g0085	29	30	0.9667	-15	c.360 others(36): Show c.3607+29536_3607+29550delAAAAAAAAAAAAAAA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92674182	AAATAATA others(8): Show AAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18522.hp1 NA20300.hp2 HG01074.hp2 NA18522.hp1 NA20300.hp2	a0015 a0043 a0048 a0015 a0043 a0048	a0015c0059 a0043c0057 a0048c0058 a0015c0059 a0043c0057 a0048c0058	a0015c0059t0088 a0043c0057t0031 a0048c0058t0043 a0015c0059t0088 a0043c0057t0031 a0048c0058t0043	a0015c0059t0088g0015 a0043c0057t0031g0096 a0048c0058t0043g0082 a0015c0059t0088g0015 a0043c0057t0031g0096 a0048c0058t0043g0082	3	42	0.0714	-15	c.360 others(36): Show c.3608-23178_3608-23164delTAATAATAATAATAA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92878653	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp2 HG02970.hp2 others(2): Show HG02622.hp1 HG02622.hp2 HG02970.hp2 HG03041.hp1 HG03195.hp1	a0001 a0024 a0033 others(1): Show a0001 a0024 a0033 a0037	a0001c0006 a0001c0051 a0024c0037 others(2): Show a0001c0006 a0001c0051 a0024c0037 a0033c0026 a0037c0071	a0001c0006t0068 a0001c0051t0089 a0024c0037t0055 others(2): Show a0001c0006t0068 a0001c0051t0089 a0024c0037t0055 a0033c0026t0054 a0037c0071t0053	a0001c0006t0068g0021 a0001c0051t0089g0016 a0024c0037t0055g0097 others(2): Show a0001c0006t0068g0021 a0001c0051t0089g0016 a0024c0037t0055g0097 a0033c0026t0054g0074 a0037c0071t0053g0064	5	116	0.0431	-15	c.121 others(36): Show c.12128-2077_12128-2063delAAAAAAAAAAAAAAG	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	22/27			chr11	TogoVar
FBLIM1_chr1_15753795_15791589	15766434	TTACAGGC others(8): Show TTACAGGCGCCCACCA	T T	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0110 a0002c0002t0002g0110	1	352	0.0028	-15	c.251 others(30): Show c.251-940_251-926delACAGGCGCCCACCAT	FBLIM1	ENSG00000162458.13	transcript	ENST00000375766.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
FBLL1_chr5_168524305_168535634	168524962	ATATATAT others(8): Show ATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18986.hp2 NA19074.hp1 NA18970.hp1 NA18986.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	3	455	0.0066	-15	c.-45 others(26): Show c.-4542_-4528delTATATATATATATAT	FBLL1	ENSG00000188573.8	transcript	ENST00000338333.5	protein_coding		4342		chr5	TogoVar
FBLL1_chr5_168524305_168535634	168524964	ATATATAT others(8): Show ATATATATATATATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18951.hp1 NA18957.hp2 others(6): Show NA18939.hp1 NA18951.hp1 NA18957.hp2 NA18961.hp2 NA18971.hp1 NA18980.hp1 NA19001.hp1 NA19065.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	9	443	0.0203	-15	c.-45 others(26): Show c.-4540_-4526delTATATATATATATTT	FBLL1	ENSG00000188573.8	transcript	ENST00000338333.5	protein_coding		4340		chr5	TogoVar
FBLL1_chr5_168524305_168535634	168524966	ATATATAT others(8): Show ATATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	441	0.0023	-15	c.-45 others(26): Show c.-4538_-4524delTATATATATATTTTT	FBLL1	ENSG00000188573.8	transcript	ENST00000338333.5	protein_coding		4338		chr5	TogoVar
FBLL1_chr5_168524305_168535634	168524970	ATATATAT others(8): Show ATATATATTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	446	0.0022	-15	c.-45 others(26): Show c.-4534_-4520delTATATATTTTTTTTT	FBLL1	ENSG00000188573.8	transcript	ENST00000338333.5	protein_coding		4334		chr5	TogoVar
FBLL1_chr5_168524305_168535634	168524972	ATATATTT others(8): Show ATATATTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02723.hp2 NA21309.hp2 HG01433.hp2 HG02723.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0001c0001t0006 a0002c0004t0001 a0001c0001t0003 a0001c0001t0006 a0002c0004t0001	a0001c0001t0003g0000 a0001c0001t0006g0000 a0002c0004t0001g0000 a0001c0001t0003g0000 a0001c0001t0006g0000 a0002c0004t0001g0000	3	456	0.0066	-15	c.-45 others(26): Show c.-4532_-4518delTATATTTTTTTTTTT	FBLL1	ENSG00000188573.8	transcript	ENST00000338333.5	protein_coding		4332		chr5	TogoVar
FBLL1_chr5_168524305_168535634	168524976	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG03486.hp1 HG02155.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0003g0000 a0001c0001t0004g0000	2	362	0.0055	-15	c.-45 others(26): Show c.-4528_-4514delTTTTTTTTTTTTTTT	FBLL1	ENSG00000188573.8	transcript	ENST00000338333.5	protein_coding		4328		chr5	TogoVar
FBLN1_chr22_45497883_45606135	45569642	AAAGAAGA others(8): Show AAAGAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(142): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18983.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19064.hp2 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0012 a0001c0014 a0001c0015 a0001c0017 a0003c0027 a0004c0007 a0007c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 a0001c0004t0001 a0001c0006t0001 a0001c0012t0001 a0001c0014t0001 a0001c0015t0001 a0001c0017t0001 a0003c0027t0001 a0004c0007t0001 a0007c0016t0001	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(142): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0272 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0310 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0001g0344 a0001c0001t0002g0058 a0001c0001t0002g0201 a0001c0001t0002g0270 a0001c0001t0003g0148 a0001c0001t0003g0209 a0001c0001t0008g0333 a0001c0001t0011g0015 a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0028 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0054 a0001c0002t0001g0065 a0001c0002t0001g0080 a0001c0002t0001g0109 a0001c0002t0001g0127 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0155 a0001c0002t0001g0169 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0211 a0001c0002t0001g0224 a0001c0002t0001g0262 a0001c0002t0001g0265 a0001c0002t0001g0267 a0001c0002t0001g0280 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0290 a0001c0002t0001g0315 a0001c0002t0002g0304 a0001c0002t0002g0314 a0001c0002t0003g0266 a0001c0002t0003g0329 a0001c0002t0010g0260 a0001c0004t0001g0123 a0001c0004t0001g0339 a0001c0006t0001g0313 a0001c0012t0001g0070 a0001c0014t0001g0116 a0001c0015t0001g0196 a0001c0017t0001g0300 a0003c0027t0001g0005 a0004c0007t0001g0083 a0007c0016t0001g0046	145	208	0.6971	-15	c.169 others(34): Show c.1698-4843_1698-4829delAGAAGAAGAAGAAGA	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBN1_chr15_48403313_48650709	48545685	GTTAAAAT others(8): Show GTTAAAATGGTAAATT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	286	0.0035	-15	c.539 others(32): Show c.539-7892_539-7878delAATTTACCATTTTAA	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48568034	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01175.hp2 HG01192.hp1 others(10): Show HG00099.hp1 HG01175.hp2 HG01192.hp1 HG02056.hp1 HG02451.hp1 HG02486.hp2 HG02602.hp2 HG02683.hp2 HG03486.hp2 HG03831.hp1 HG03834.hp1 NA19012.hp2 NA19072.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0002 a0001c0004 a0005c0013 others(1): Show a0001c0002 a0001c0004 a0005c0013 a0007c0016	a0001c0002t0002 a0001c0002t0003 a0001c0002t0023 others(3): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0023 a0001c0004t0004 a0005c0013t0003 a0007c0016t0011	a0001c0002t0002g0086 a0001c0002t0003g0028 a0001c0002t0003g0030 others(10): Show a0001c0002t0002g0086 a0001c0002t0003g0028 a0001c0002t0003g0030 a0001c0002t0003g0042 a0001c0002t0003g0045 a0001c0002t0003g0083 a0001c0002t0023g0036 a0001c0004t0004g0051 a0001c0004t0004g0052 a0001c0004t0004g0059 a0001c0004t0004g0062 a0005c0013t0003g0033 a0007c0016t0011g0124	13	285	0.0456	-15	c.538 others(34): Show c.538+28234_538+28248delCTTTCTTTCTTTCTT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FBN2_chr5_128252909_128543245	128310383	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0027 a0027	a0027c0047 a0027c0047	a0027c0047t0002 a0027c0047t0002	a0027c0047t0002g0058 a0027c0047t0002g0058	1	234	0.0043	-15	c.507 others(32): Show c.5075-290_5075-276delTATATATATATATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	39/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128310392	ATATATAT others(8): Show ATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01516.hp1 HG01952.hp2 others(6): Show HG00639.hp2 HG01516.hp1 HG01952.hp2 HG02818.hp1 HG02896.hp2 HG03831.hp1 HG03831.hp2 HG04204.hp1 NA19077.hp2	a0001 a0002 a0022 a0001 a0002 a0022	a0001c0001 a0001c0009 a0001c0050 others(3): Show a0001c0001 a0001c0009 a0001c0050 a0002c0010 a0002c0065 a0022c0053	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0009t0002 a0001c0050t0001 a0002c0010t0008 a0002c0065t0011 a0022c0053t0039	a0001c0001t0001g0169 a0001c0001t0002g0076 a0001c0001t0013g0109 others(6): Show a0001c0001t0001g0169 a0001c0001t0002g0076 a0001c0001t0013g0109 a0001c0001t0013g0110 a0001c0009t0002g0050 a0001c0050t0001g0207 a0002c0010t0008g0084 a0002c0065t0011g0083 a0022c0053t0039g0235	9	216	0.0417	-15	c.507 others(32): Show c.5075-299_5075-285delAAAAATATATATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	39/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128310394	ATATATAT others(8): Show ATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02056.hp1 HG03471.hp1 HG01928.hp2 HG02056.hp1 HG03471.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0034 a0001c0001 a0003c0034	a0001c0001t0001 a0001c0001t0002 a0003c0034t0004 a0001c0001t0001 a0001c0001t0002 a0003c0034t0004	a0001c0001t0001g0183 a0001c0001t0002g0069 a0003c0034t0004g0039 a0001c0001t0001g0183 a0001c0001t0002g0069 a0003c0034t0004g0039	3	209	0.0144	-15	c.507 others(32): Show c.5075-301_5075-287delAAAAAAATATATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	39/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128310398	ATATATTT others(8): Show ATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp2 NA19056.hp1 NA19056.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0213 a0004c0005t0001g0231 a0004c0005t0001g0213 a0004c0005t0001g0231	2	217	0.0092	-15	c.507 others(32): Show c.5075-305_5075-291delAAAAAAAAAAATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	39/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128444054	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01346.hp2 others(12): Show HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG02273.hp1 HG03239.hp2 HG03491.hp1 HG03831.hp2 NA18964.hp2 NA18990.hp1 NA19003.hp2 NA19079.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0009 a0002c0006 a0002c0013 others(2): Show a0001c0009 a0002c0006 a0002c0013 a0002c0016 a0011c0024	a0001c0009t0002 a0002c0006t0004 a0002c0013t0007 others(2): Show a0001c0009t0002 a0002c0006t0004 a0002c0013t0007 a0002c0016t0002 a0011c0024t0007	a0001c0009t0002g0041 a0001c0009t0002g0050 a0002c0006t0004g0043 others(12): Show a0001c0009t0002g0041 a0001c0009t0002g0050 a0002c0006t0004g0043 a0002c0006t0004g0045 a0002c0006t0004g0046 a0002c0006t0004g0047 a0002c0006t0004g0048 a0002c0006t0004g0049 a0002c0006t0004g0051 a0002c0006t0004g0052 a0002c0013t0007g0170 a0002c0013t0007g0203 a0002c0016t0002g0044 a0011c0024t0007g0121 a0011c0024t0007g0122	15	94	0.1596	-15	c.952 others(32): Show c.952+2412_952+2426delAAAAAAAAAAAAAAA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	7/64			chr5	TogoVar
FBN3_chr19_8060402_8154592	8088399	TGAGTGAA others(8): Show TGAGTGAATGAGCAAG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01106.hp2 others(39): Show HG01069.hp2 HG01071.hp1 HG01106.hp2 HG01109.hp1 HG01243.hp1 HG01433.hp2 HG01884.hp2 HG01952.hp2 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02135.hp2 HG02257.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03490.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG04228.hp2 NA18906.hp1 NA18970.hp1 NA19074.hp2 NA20129.hp2	a0013 a0019 a0020 others(23): Show a0013 a0019 a0020 a0022 a0027 a0032 a0039 a0040 a0041 a0060 a0061 a0073 a0077 a0091 a0093 a0096 a0097 a0100 a0106 a0109 a0118 a0120 a0123 a0125 a0137 a0158	a0013c0039 a0013c0112 a0013c0119 others(31): Show a0013c0039 a0013c0112 a0013c0119 a0013c0120 a0013c0131 a0019c0014 a0020c0020 a0022c0160 a0027c0040 a0027c0063 a0032c0049 a0039c0072 a0039c0185 a0040c0070 a0040c0182 a0041c0215 a0041c0220 a0060c0091 a0061c0097 a0073c0124 a0077c0096 a0091c0093 a0093c0221 a0096c0153 a0097c0126 a0100c0054 a0106c0094 a0109c0123 a0118c0125 a0120c0134 a0123c0151 a0125c0071 a0137c0219 a0158c0066	a0013c0039t0002 a0013c0112t0001 a0013c0119t0001 others(32): Show a0013c0039t0002 a0013c0112t0001 a0013c0119t0001 a0013c0120t0001 a0013c0131t0001 a0019c0014t0002 a0019c0014t0003 a0020c0020t0001 a0022c0160t0001 a0027c0040t0001 a0027c0063t0001 a0032c0049t0001 a0039c0072t0001 a0039c0185t0001 a0040c0070t0001 a0040c0182t0001 a0041c0215t0001 a0041c0220t0001 a0060c0091t0001 a0061c0097t0001 a0073c0124t0001 a0077c0096t0001 a0091c0093t0001 a0093c0221t0001 a0096c0153t0001 a0097c0126t0001 a0100c0054t0001 a0106c0094t0001 a0109c0123t0001 a0118c0125t0001 a0120c0134t0001 a0123c0151t0002 a0125c0071t0002 a0137c0219t0002 a0158c0066t0001	a0013c0039t0002g0033 a0013c0039t0002g0035 a0013c0112t0001g0333 others(39): Show a0013c0039t0002g0033 a0013c0039t0002g0035 a0013c0112t0001g0333 a0013c0119t0001g0011 a0013c0120t0001g0015 a0013c0131t0001g0051 a0019c0014t0002g0050 a0019c0014t0002g0271 a0019c0014t0002g0301 a0019c0014t0003g0335 a0020c0020t0001g0003 a0020c0020t0001g0004 a0020c0020t0001g0005 a0022c0160t0001g0361 a0027c0040t0001g0028 a0027c0040t0001g0029 a0027c0063t0001g0346 a0032c0049t0001g0203 a0032c0049t0001g0204 a0039c0072t0001g0054 a0039c0185t0001g0192 a0040c0070t0001g0372 a0040c0182t0001g0202 a0041c0215t0001g0208 a0041c0220t0001g0223 a0060c0091t0001g0314 a0061c0097t0001g0083 a0073c0124t0001g0031 a0077c0096t0001g0326 a0091c0093t0001g0328 a0093c0221t0001g0229 a0096c0153t0001g0249 a0097c0126t0001g0012 a0100c0054t0001g0366 a0106c0094t0001g0364 a0109c0123t0001g0253 a0118c0125t0001g0334 a0120c0134t0001g0098 a0123c0151t0002g0254 a0125c0071t0002g0258 a0137c0219t0002g0222 a0158c0066t0001g0293	42	378	0.1111	-15	c.637 others(32): Show c.6377-235_6377-221delCTTGCTCATTCACTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	51/63			chr19	TogoVar

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