Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FAN1_chr15_30898915_30948108	30929779	T T	TCATATAT others(20): Show TCATATATAATATATATAAAATATATAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG01070.hp1 others(25): Show HG00544.hp1 HG00609.hp2 HG01070.hp1 HG01258.hp2 HG02004.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02300.hp2 HG02735.hp2 HG03688.hp2 HG03927.hp2 HG06807.hp1 NA18747.hp2 NA18973.hp2 NA18979.hp2 NA18986.hp1 NA18990.hp2 NA18992.hp1 NA19000.hp1 NA19006.hp2 NA19030.hp1 NA19075.hp2 NA19081.hp2 NA19083.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 a0001c0001t0002 a0001c0001t0006 a0001c0001t0016	a0001c0001t0002g0016 a0001c0001t0002g0027 a0001c0001t0002g0036 others(22): Show a0001c0001t0002g0016 a0001c0001t0002g0027 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0006g0195 a0001c0001t0016g0198	28	303	0.0924	27	c.278 others(44): Show c.2787+382_2787+383insCATATATAATATATATAAAATATATAA	FAN1	ENSG00000198690.10	transcript	ENST00000362065.9	protein_coding	12/14			chr15	TogoVar
FAN1_chr15_30898915_30948108	30929779	T T	TCATATAT others(20): Show TCATATATAGTATATATAAAATATATAA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	303	0.0033	27	c.278 others(44): Show c.2787+382_2787+383insCATATATAGTATATATAAAATATATAA	FAN1	ENSG00000198690.10	transcript	ENST00000362065.9	protein_coding	12/14			chr15	TogoVar
FAN1_chr15_30898915_30948108	30929819	T T	TCATATAT others(20): Show TCATATATAATATATAAAATATATAATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG06807.hp1 others(2): Show HG01515.hp2 HG01517.hp2 HG06807.hp1 NA18989.hp2 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0004c0009t0005	a0001c0001t0005g0084 a0001c0001t0006g0195 a0001c0001t0017g0082 others(1): Show a0001c0001t0005g0084 a0001c0001t0006g0195 a0001c0001t0017g0082 a0004c0009t0005g0021	5	303	0.0165	27	c.278 others(44): Show c.2787+422_2787+423insCATATATAATATATAAAATATATAATA	FAN1	ENSG00000198690.10	transcript	ENST00000362065.9	protein_coding	12/14			chr15	TogoVar
FANCA_chr16_89732549_89821647	89771155	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0004 a0006c0007t0004	a0006c0007t0004g0310 a0006c0007t0004g0310	1	334	0.0030	27	c.215 others(44): Show c.2151+522_2152-521insTTTTTTTTTTTTTTTTTTTTTTTTTTT	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	23/42			chr16	TogoVar
FANCC_chr9_95094054_95322709	95271927	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	278	0.0036	27	c.-78 others(46): Show c.-78-22585_-78-22559dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	FANCC	ENSG00000158169.14	transcript	ENST00000289081.8	protein_coding	1/14			chr9	TogoVar
FANCD2_chr3_10021437_10106932	10036086	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0234 a0002c0002t0002g0234	1	242	0.0041	27	c.439 others(42): Show c.439-182_439-181insTTTTTTTTTTTTTTTTTTTTTTTTTTT	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	6/43		INFO_REALIGN_3_PRIME	chr3	TogoVar
FANK1_chr10_125891564_126014592	125918585	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	370	0.0027	27	c.13+ others(44): Show c.13+21930_13+21931insTATATATATATATATATATATATATAT	FANK1	ENSG00000203780.12	transcript	ENST00000368693.6	protein_coding	1/10			chr10	TogoVar
FANK1_chr10_125891564_126014592	125919195	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03486.hp2 NA19007.hp2 HG02622.hp1 HG03486.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0157 a0001c0001t0001g0211 a0001c0001t0001g0122 a0001c0001t0001g0157 a0001c0001t0001g0211	3	370	0.0081	27	c.13+ others(44): Show c.13+22542_13+22568dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	FANK1	ENSG00000203780.12	transcript	ENST00000368693.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
FARP1_chr13_98138094_98460176	98277149	C C	CACACACA others(20): Show CACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0056 a0001c0001t0005g0056	1	218	0.0046	27	c.171 others(46): Show c.171+63736_171+63737insACACACACACACACACACACACACAC A	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	2/26			chr13	TogoVar
FARP1_chr13_98138094_98460176	98379064	A A	ATAATATA others(20): Show ATAATATATATATAATATATGTAATATG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0161 a0001c0001t0068g0161	1	218	0.0046	27	c.496 others(44): Show c.496+1154_496+1155insATATAATATATGTAATATGTAATATAT	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98401415	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	218	0.0046	27	c.141 others(46): Show c.1414+5939_1414+5940insCACACACACACACACACACACACACA C	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	13/26			chr13	TogoVar
FARP2_chr2_241351285_241499841	241402880	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	378	0.0027	27	c.184 others(42): Show c.184-947_184-946insATATATATATATATATATATATTTTTT	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
FARS2_chr6_5256513_5776583	5268596	G G	GGTAACAG others(20): Show GGTAACAGTACCATGGTAACAGTACCAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	170	0.0059	27	c.-22 others(44): Show c.-22+6938_-22+6939insAACAGTACCATGGTAACAGTACCATGT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5315716	C C	CTCTTCTT others(20): Show CTCTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	170	0.0059	27	c.-21 others(46): Show c.-21-52830_-21-52829insCTTTCTTTCTTTCTTTCTTTCTTTCT T	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5341235	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	170	0.0059	27	c.-21 others(46): Show c.-21-27314_-21-27313insATATATATATATATATATATATATTT T	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAT3_chr11_92219818_92901473	92229492	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0012 a0012	a0012c0064 a0012c0064	a0012c0064t0041 a0012c0064t0041	a0012c0064t0041g0086 a0012c0064t0041g0086	1	118	0.0085	27	c.-18 others(44): Show c.-18+4332_-18+4333insTTTTTTTTTTTTTTTTTTTTTTTTTTT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92478947	T T	TTCTTTTC others(20): Show TTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0028 a0028	a0028c0033 a0028c0033	a0028c0033t0045 a0028c0033t0045	a0028c0033t0045g0049 a0028c0033t0045g0049	1	118	0.0085	27	c.329 others(48): Show c.3293-45687_3293-45686insTCTTTTCTTTTCTTTTCTTTTCTT TTC	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27			chr11	TogoVar
FAT3_chr11_92219818_92901473	92478953	T T	TCTCTTTC others(20): Show TCTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0045 a0045	a0045c0066 a0045c0066	a0045c0066t0027 a0045c0066t0027	a0045c0066t0027g0057 a0045c0066t0027g0057	1	118	0.0085	27	c.329 others(48): Show c.3293-45681_3293-45680insCTCTTTCTTTCTTTCTTTCTTTCT TTC	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27			chr11	TogoVar
FAT3_chr11_92219818_92901473	92478953	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02004.hp2 HG02630.hp1 others(1): Show HG01884.hp1 HG02004.hp2 HG02630.hp1 NA19065.hp1	a0001 a0027 a0001 a0027	a0001c0002 a0001c0014 a0001c0025 others(1): Show a0001c0002 a0001c0014 a0001c0025 a0027c0047	a0001c0002t0053 a0001c0014t0034 a0001c0025t0011 others(1): Show a0001c0002t0053 a0001c0014t0034 a0001c0025t0011 a0027c0047t0011	a0001c0002t0053g0090 a0001c0014t0034g0062 a0001c0025t0011g0076 others(1): Show a0001c0002t0053g0090 a0001c0014t0034g0062 a0001c0025t0011g0076 a0027c0047t0011g0063	4	118	0.0339	27	c.329 others(48): Show c.3293-45679_3293-45678insCTTTCTTTCTTTCTTTCTTTCTTT CTT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92486130	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0017 a0005c0004t0017	a0005c0004t0017g0058 a0005c0004t0017g0058	1	118	0.0085	27	c.329 others(48): Show c.3293-38502_3293-38476dupTTTTTTTTTTTTTTTTTTTTTTTT TTT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92551414	T T	TTGTTTTG others(20): Show TTGTTTTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0023 a0023	a0023c0037 a0023c0037	a0023c0037t0056 a0023c0037t0056	a0023c0037t0056g0100 a0023c0037t0056g0100	1	118	0.0085	27	c.360 others(48): Show c.3607+26469_3607+26470insTTTGTGTGTGTGTGTGTGTGTGTG TGT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92705644	T T	TGATGGTG others(20): Show TGATGGTGGTGGTGATGGTGGGTGATGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0033 a0001c0035t0033	a0001c0035t0033g0068 a0001c0035t0033g0068	1	118	0.0085	27	c.366 others(46): Show c.3669+8199_3669+8200insGATGGTGGTGGTGATGGTGGGTGATG G	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27			chr11	TogoVar
FAXC_chr6_99266168_99354674	99269428	G G	GTGACAAT others(20): Show GTGACAATGATGATGGTGGTGATGATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0135 a0001c0001t0135	a0001c0001t0135g0362 a0001c0001t0135g0362	1	398	0.0025	27	c.11 others(40): Show c.11735_*11736insTCATCATCACCACCATCATCATTGTCA	FAXC	ENSG00000146267.12	transcript	ENST00000389677.6	protein_coding		1739		chr6	TogoVar
FAXC_chr6_99266168_99354674	99269428	G G	GTGACAAT others(20): Show GTGACAATGGTGATGGTGGTGATGATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(245): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18993.hp2 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(85): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0061 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0090 a0001c0001t0098 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0136 a0001c0001t0137 a0001c0002t0004 a0001c0002t0121 a0001c0003t0057 a0001c0004t0150 a0002c0005t0070	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 others(236): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0279 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0321 a0001c0001t0002g0331 a0001c0001t0002g0334 a0001c0001t0002g0336 a0001c0001t0002g0338 a0001c0001t0002g0349 a0001c0001t0002g0359 a0001c0001t0002g0361 a0001c0001t0002g0363 a0001c0001t0002g0365 a0001c0001t0004g0014 a0001c0001t0004g0207 a0001c0001t0004g0228 a0001c0001t0004g0308 a0001c0001t0004g0335 a0001c0001t0004g0364 a0001c0001t0004g0366 a0001c0001t0004g0367 a0001c0001t0004g0368 a0001c0001t0004g0369 a0001c0001t0004g0370 a0001c0001t0005g0007 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0096 a0001c0001t0005g0161 a0001c0001t0005g0170 a0001c0001t0005g0177 a0001c0001t0005g0178 a0001c0001t0005g0179 a0001c0001t0005g0180 a0001c0001t0006g0304 a0001c0001t0006g0311 a0001c0001t0006g0318 a0001c0001t0006g0330 a0001c0001t0006g0333 a0001c0001t0006g0343 a0001c0001t0006g0345 a0001c0001t0006g0346 a0001c0001t0006g0350 a0001c0001t0006g0353 a0001c0001t0006g0356 a0001c0001t0009g0012 a0001c0001t0009g0300 a0001c0001t0009g0317 a0001c0001t0009g0319 a0001c0001t0009g0329 a0001c0001t0009g0332 a0001c0001t0009g0348 a0001c0001t0012g0010 a0001c0001t0012g0270 a0001c0001t0012g0271 a0001c0001t0012g0272 a0001c0001t0012g0273 a0001c0001t0012g0275 a0001c0001t0013g0213 a0001c0001t0013g0214 a0001c0001t0013g0215 a0001c0001t0013g0216 a0001c0001t0013g0217 a0001c0001t0013g0218 a0001c0001t0013g0260 a0001c0001t0014g0302 a0001c0001t0014g0322 a0001c0001t0014g0327 a0001c0001t0014g0344 a0001c0001t0014g0357 a0001c0001t0014g0374 a0001c0001t0016g0022 a0001c0001t0016g0026 a0001c0001t0016g0030 a0001c0001t0016g0034 a0001c0001t0016g0037 a0001c0001t0017g0021 a0001c0001t0017g0025 a0001c0001t0017g0050 a0001c0001t0017g0051 a0001c0001t0017g0052 a0001c0001t0019g0155 a0001c0001t0019g0156 a0001c0001t0019g0158 a0001c0001t0019g0159 a0001c0001t0019g0172 a0001c0001t0021g0226 a0001c0001t0021g0252 a0001c0001t0021g0255 a0001c0001t0021g0256 a0001c0001t0021g0379 a0001c0001t0024g0091 a0001c0001t0024g0182 a0001c0001t0024g0183 a0001c0001t0024g0184 a0001c0001t0025g0154 a0001c0001t0025g0157 a0001c0001t0025g0162 a0001c0001t0025g0163 a0001c0001t0026g0011 a0001c0001t0026g0239 a0001c0001t0026g0253 a0001c0001t0027g0326 a0001c0001t0027g0339 a0001c0001t0027g0372 a0001c0001t0027g0377 a0001c0001t0028g0097 a0001c0001t0028g0099 a0001c0001t0028g0102 a0001c0001t0029g0095 a0001c0001t0029g0181 a0001c0001t0029g0185 a0001c0001t0030g0129 a0001c0001t0030g0165 a0001c0001t0030g0166 a0001c0001t0034g0274 a0001c0001t0034g0277 a0001c0001t0034g0313 a0001c0001t0035g0281 a0001c0001t0035g0296 a0001c0001t0035g0299 a0001c0001t0036g0310 a0001c0001t0036g0340 a0001c0001t0036g0376 a0001c0001t0037g0276 a0001c0001t0037g0286 a0001c0001t0037g0337 a0001c0001t0038g0019 a0001c0001t0038g0029 a0001c0001t0041g0087 a0001c0001t0041g0090 a0001c0001t0043g0131 a0001c0001t0043g0132 a0001c0001t0044g0098 a0001c0001t0044g0153 a0001c0001t0045g0092 a0001c0001t0045g0109 a0001c0001t0051g0262 a0001c0001t0051g0268 a0001c0001t0052g0257 a0001c0001t0052g0355 a0001c0001t0053g0240 a0001c0001t0053g0269 a0001c0001t0054g0231 a0001c0001t0054g0238 a0001c0001t0055g0328 a0001c0001t0055g0351 a0001c0001t0056g0258 a0001c0001t0056g0259 a0001c0001t0057g0352 a0001c0001t0061g0015 a0001c0001t0063g0055 a0001c0001t0064g0018 a0001c0001t0065g0049 a0001c0001t0066g0056 a0001c0001t0071g0064 a0001c0001t0073g0168 a0001c0001t0074g0073 a0001c0001t0075g0072 a0001c0001t0076g0077 a0001c0001t0077g0074 a0001c0001t0078g0138 a0001c0001t0079g0094 a0001c0001t0080g0160 a0001c0001t0081g0169 a0001c0001t0082g0084 a0001c0001t0083g0100 a0001c0001t0090g0141 a0001c0001t0098g0112 a0001c0001t0106g0164 a0001c0001t0107g0186 a0001c0001t0108g0187 a0001c0001t0109g0188 a0001c0001t0111g0261 a0001c0001t0112g0266 a0001c0001t0113g0267 a0001c0001t0114g0283 a0001c0001t0115g0246 a0001c0001t0117g0249 a0001c0001t0118g0263 a0001c0001t0119g0233 a0001c0001t0120g0373 a0001c0001t0122g0354 a0001c0001t0123g0323 a0001c0001t0124g0278 a0001c0001t0125g0324 a0001c0001t0126g0325 a0001c0001t0127g0298 a0001c0001t0128g0297 a0001c0001t0129g0347 a0001c0001t0130g0316 a0001c0001t0131g0309 a0001c0001t0132g0341 a0001c0001t0133g0342 a0001c0001t0134g0212 a0001c0001t0136g0320 a0001c0001t0137g0222 a0001c0002t0004g0192 a0001c0002t0004g0205 a0001c0002t0121g0199 a0001c0003t0057g0307 a0001c0004t0150g0382 a0002c0005t0070g0063	248	398	0.6231	27	c.11 others(40): Show c.11735_*11736insTCATCATCACCACCATCACCATTGTCA	FAXC	ENSG00000146267.12	transcript	ENST00000389677.6	protein_coding		1739		chr6	TogoVar
FAXDC2_chr5_154813492_154855603	154825650	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	310	0.0032	27	c.367 others(44): Show c.367-2059_367-2058insTTTTTTTTTTTTTTTTTTTTTTTTTTT	FAXDC2	ENSG00000170271.11	transcript	ENST00000326080.10	protein_coding	5/8			chr5	TogoVar
FBLN1_chr22_45497883_45606135	45602817	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 NA19066.hp1 HG01358.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0233 a0001c0001t0001g0108 a0001c0001t0001g0233	2	346	0.0058	27	c.23 others(38): Show c.2371_*2372insAAAAAAAAAAAAAAAAAAAAAAAAAAA	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding		1683		chr22	TogoVar
FBLN2_chr3_13544125_13643404	13612294	C C	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0004 a0005c0008t0004	a0005c0008t0004g0288 a0005c0008t0004g0288	1	312	0.0032	27	c.154 others(46): Show c.1549-1690_1549-1689insTTTCTTTCTTTCTTTCTTTCTTTCTT T	FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding	4/17			chr3	TogoVar
FBLN2_chr3_13544125_13643404	13612340	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0240 a0001c0015t0001g0240	1	312	0.0032	27	c.154 others(46): Show c.1549-1642_1549-1641insCTTTCTTTCTTTCTTTCTTTCTTTCT T	FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
FBLN2_chr3_13544125_13643404	13633954	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0002 a0004c0014t0002	a0004c0014t0002g0280 a0004c0014t0002g0280	1	312	0.0032	27	c.321 others(46): Show c.3215-2491_3215-2490insCACACACACACACACACACACACACA C	FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding	16/17			chr3	TogoVar
FBLN7_chr2_112133385_112193218	112134887	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG01516.hp1 others(39): Show HG00280.hp2 HG00438.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01943.hp2 HG01978.hp1 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02559.hp1 HG02572.hp2 HG02897.hp1 HG03041.hp1 HG03195.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp2 HG03688.hp2 NA18906.hp1 NA18942.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18964.hp2 NA18968.hp2 NA18973.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18987.hp2 NA18988.hp1 NA18994.hp1 NA19007.hp2 NA19043.hp2 NA19060.hp2 NA19066.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0002c0002 a0001c0001 a0001c0012 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0012t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0096 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0226 a0001c0001t0001g0253 a0001c0001t0002g0009 a0001c0001t0002g0031 a0001c0001t0003g0012 a0001c0001t0005g0191 a0001c0001t0008g0186 a0001c0001t0010g0163 a0001c0012t0001g0106 a0002c0002t0001g0153 a0002c0002t0003g0084	42	346	0.1214	27	c.-37 others(38): Show c.-3769_-3768insTTTTTTTTTTTTTTTTTTTTTTTTTTT	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding		3497		chr2	TogoVar
FBLN7_chr2_112133385_112193218	112139238	T T	TGTCCCTC others(20): Show TGTCCCTCCCGCCTCTCTCCAGGCCAGC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0262 a0001c0001t0003g0262	1	346	0.0029	27	c.75+ others(40): Show c.75+531_75+557dupCCAGCGTCCCTCCCGCCTCTCTCCAGG	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FBLN7_chr2_112133385_112193218	112139788	G G	GCCTCTCT others(20): Show GCCTCTCTCCAGGTCAGTGTCCCTCCCA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	346	0.0029	27	c.75+ others(42): Show c.75+1070_75+1071insTCAGTGTCCCTCCCACCTCTCTCCAGG	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FBLN7_chr2_112133385_112193218	112140037	G G	GGCCAGCG others(20): Show GGCCAGCGTCCCTCCCGCCTCTCTCCAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0264 a0001c0007t0001g0264	1	346	0.0029	27	c.75+ others(42): Show c.75+1367_75+1393dupCGTCCCTCCCGCCTCTCTCCACGCCAG	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FBN1_chr15_48403313_48650709	48417469	T T	TTCCTTCC others(20): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0067 a0001c0004t0004g0067	1	288	0.0035	27	c.782 others(46): Show c.7820-1703_7820-1702insGGAAGGAAGGAAGGAAGGAAGGAAGG A	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	63/65			chr15	TogoVar
FBN2_chr5_128252909_128543245	128455990	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0057 a0001c0057	a0001c0057t0001 a0001c0057t0001	a0001c0057t0001g0202 a0001c0057t0001g0202	1	236	0.0042	27	c.826 others(44): Show c.826+8707_826+8733dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	6/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128539884	T T	TCATATAT others(20): Show TCATATATATGATATATATGATAGATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 NA18988.hp2 NA19065.hp2 HG01978.hp2 NA18988.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0172 a0001c0003t0001g0173 a0001c0003t0001g0176 a0001c0001t0001g0172 a0001c0003t0001g0173 a0001c0003t0001g0176	3	236	0.0127	27	c.-22 others(38): Show c.-2282_-2281insTGATCTATCATATATATCATATATATG	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1640		chr5	TogoVar
FBN2_chr5_128252909_128543245	128539931	C C	CATATATC others(20): Show CATATATCATATATATCATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01106.hp1 HG02273.hp2 others(2): Show HG00099.hp1 HG01106.hp1 HG02273.hp2 HG03579.hp1 NA18986.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0023 a0001c0001 a0002c0023	a0001c0001t0001 a0002c0023t0007 a0001c0001t0001 a0002c0023t0007	a0001c0001t0001g0126 a0001c0001t0001g0145 a0001c0001t0001g0186 others(2): Show a0001c0001t0001g0126 a0001c0001t0001g0145 a0001c0001t0001g0186 a0001c0001t0001g0188 a0002c0023t0007g0121	5	236	0.0212	27	c.-23 others(38): Show c.-2355_-2329dupATGATATATATGATATATATGATATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1687		chr5	TogoVar
FBN3_chr19_8060402_8154592	8130596	G G	GGAAAGGA others(20): Show GGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0066 a0066	a0066c0163 a0066c0163	a0066c0163t0001 a0066c0163t0001	a0066c0163t0001g0053 a0066c0163t0001g0053	1	380	0.0026	27	c.204 others(44): Show c.2044+638_2044+639insTCCTTTCCTTTCCTTTCCTTTCCTTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FBN3_chr19_8060402_8154592	8130636	G G	GGAAAGGA others(20): Show GGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19011.hp1 HG03139.hp1 NA19011.hp1	a0015 a0124 a0015 a0124	a0015c0032 a0124c0092 a0015c0032 a0124c0092	a0015c0032t0002 a0124c0092t0001 a0015c0032t0002 a0124c0092t0001	a0015c0032t0002g0128 a0124c0092t0001g0023 a0015c0032t0002g0128 a0124c0092t0001g0023	2	380	0.0053	27	c.204 others(44): Show c.2044+598_2044+599insTCCTTTCCTTTCCTTTCCTTTCCTTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FBN3_chr19_8060402_8154592	8130636	G G	GGAAGGAA others(20): Show GGAAGGAAGGAAGGAAGGAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0018 a0018	a0018c0014 a0018c0014	a0018c0014t0003 a0018c0014t0003	a0018c0014t0003g0340 a0018c0014t0003g0340	1	380	0.0026	27	c.204 others(44): Show c.2044+598_2044+599insTCCTTTCCTTCCTTCCTTCCTTCCTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FBP2_chr9_94553720_94598824	94579050	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	380	0.0026	27	c.426 others(44): Show c.426+5526_426+5527insTTTTTTTTTTTTTTTTTTTTTTTTTTT	FBP2	ENSG00000130957.5	transcript	ENST00000375337.4	protein_coding	3/6			chr9	TogoVar
FBRSL1_chr12_132485151_132590188	132563011	A A	ACCTGGCC others(20): Show ACCTGGCCCCCACAGCCTGCACCCCACG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01074.hp1 HG01256.hp1 others(4): Show HG00280.hp2 HG01074.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01978.hp1 HG03688.hp1	a0000 a0001 a0005 others(2): Show a0000 a0001 a0005 a0010 a0027	a0000c0015 a0001c0003 a0005c0051 others(2): Show a0000c0015 a0001c0003 a0005c0051 a0010c0065 a0027c0070	a0000c0015t0035 a0001c0003t0004 a0001c0003t0020 others(3): Show a0000c0015t0035 a0001c0003t0004 a0001c0003t0020 a0005c0051t0021 a0010c0065t0020 a0027c0070t0021	a0000c0015t0035g0023 a0001c0003t0004g0056 a0001c0003t0004g0270 others(4): Show a0000c0015t0035g0023 a0001c0003t0004g0056 a0001c0003t0004g0270 a0001c0003t0020g0001 a0005c0051t0021g0038 a0010c0065t0020g0001 a0027c0070t0021g0024	7	348	0.0201	27	c.646 others(44): Show c.646-4233_646-4207dupCCCCACGCCTGGCCCCCACAGCCTGCA	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132563259	G G	GCCCCCAC others(20): Show GCCCCCACAGCCTGCACCCCACGCCTGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0130 a0002c0004t0001g0130	1	348	0.0029	27	c.646 others(44): Show c.646-4207_646-4206insCCCCACGCCTGACCCCCACAGCCTGCA	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXL17_chr5_107854035_108387098	107980664	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0137	1	244	0.0041	27	c.182 others(48): Show c.1822+40260_1822+40261insAAAAAAAAAAAAATATATATATAT ATA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	107980664	A A	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0062 a0004c0006t0062	a0004c0006t0062g0076 a0004c0006t0062g0076	1	244	0.0041	27	c.182 others(48): Show c.1822+40260_1822+40261insAAAAAAAAAAAAAAATATATATAT ATA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108002182	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0230 a0002c0003t0003g0230	1	244	0.0041	27	c.182 others(48): Show c.1822+18742_1822+18743insAAAAAAAAAAAAAAAAAAAAAAAA AAA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL4_chr6_98863535_98952946	98935795	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0319 a0001c0001t0015g0319	1	374	0.0027	27	c.-30 others(44): Show c.-308-917_-308-916insTTTTTTTTTTTTTTTTTTTTTTTTTTT	FBXL4	ENSG00000112234.9	transcript	ENST00000369244.7	protein_coding	1/9			chr6	TogoVar
FBXO11_chr2_47801920_47911498	47813425	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	318	0.0031	27	c.208 others(42): Show c.2084-49_2084-48insAAAAAAAAAAAAAAAAAAAAAAAAAAA	FBXO11	ENSG00000138081.22	transcript	ENST00000403359.8	protein_coding	17/22			chr2	TogoVar
FBXO16_chr8_28423412_28495229	28460246	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0224 a0003c0003t0003g0224	1	394	0.0025	27	c.343 others(44): Show c.343-3317_343-3316insTATATATATATATATATATATATATAT	FBXO16	ENSG00000214050.8	transcript	ENST00000380254.7	protein_coding	4/8			chr8	TogoVar
FBXO25_chr8_401958_482967	426808	C C	CACCTGGC others(20): Show CACCTGGCCTTGGTGCTCTTGTCGCCCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00544.hp2 others(59): Show HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG01070.hp1 HG01071.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02257.hp2 HG02523.hp1 HG02647.hp1 HG02698.hp2 HG02886.hp2 HG03490.hp1 HG03669.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG04199.hp1 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18948.hp1 NA18949.hp1 NA18952.hp2 NA18956.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18991.hp1 NA18992.hp2 NA19002.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19054.hp1 NA19060.hp2 NA19063.hp2 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0042 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0042 a0001c0001t0055 a0001c0001t0109 a0001c0001t0110 a0002c0002t0002 a0002c0002t0087 a0003c0003t0002 a0003c0003t0003 a0003c0003t0011 a0003c0003t0017 a0003c0003t0085 a0003c0003t0086 a0003c0003t0094 a0003c0003t0095 a0003c0003t0108 a0003c0003t0119 a0004c0004t0002 a0004c0004t0003 a0004c0004t0004 a0004c0004t0092 a0004c0004t0103 a0004c0004t0105 a0004c0006t0001 a0004c0006t0003 a0004c0006t0030 a0004c0006t0096	a0001c0001t0001g0158 a0001c0001t0002g0140 a0001c0001t0042g0155 others(52): Show a0001c0001t0001g0158 a0001c0001t0002g0140 a0001c0001t0042g0155 a0001c0001t0042g0247 a0001c0001t0055g0141 a0001c0001t0109g0137 a0001c0001t0110g0147 a0002c0002t0002g0192 a0002c0002t0087g0217 a0003c0003t0002g0021 a0003c0003t0002g0031 a0003c0003t0002g0138 a0003c0003t0002g0139 a0003c0003t0002g0142 a0003c0003t0002g0143 a0003c0003t0002g0146 a0003c0003t0002g0148 a0003c0003t0002g0153 a0003c0003t0002g0154 a0003c0003t0002g0246 a0003c0003t0002g0294 a0003c0003t0003g0145 a0003c0003t0003g0251 a0003c0003t0011g0006 a0003c0003t0011g0151 a0003c0003t0011g0152 a0003c0003t0017g0007 a0003c0003t0017g0150 a0003c0003t0085g0149 a0003c0003t0086g0125 a0003c0003t0094g0022 a0003c0003t0095g0022 a0003c0003t0108g0116 a0003c0003t0119g0123 a0004c0004t0002g0111 a0004c0004t0002g0112 a0004c0004t0003g0183 a0004c0004t0003g0185 a0004c0004t0003g0186 a0004c0004t0003g0193 a0004c0004t0003g0220 a0004c0004t0003g0239 a0004c0004t0003g0241 a0004c0004t0004g0097 a0004c0004t0092g0144 a0004c0004t0103g0187 a0004c0004t0105g0182 a0004c0006t0001g0189 a0004c0006t0003g0184 a0004c0006t0003g0188 a0004c0006t0003g0190 a0004c0006t0003g0191 a0004c0006t0003g0240 a0004c0006t0030g0027 a0004c0006t0096g0229	62	412	0.1505	27	c.135 others(44): Show c.135-4532_135-4506dupACCTGGCCTTGGTGCTCTTGTCGCCCT	FBXO25	ENSG00000147364.17	transcript	ENST00000350302.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr8	TogoVar

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