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 limited to 10,000 hits. Refine your search for more specific results.

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
FARS2_chr6_5256513_5776583	5341235	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	170	0.0059	11	c.-21 others(30): Show c.-21-27314_-21-27313insATATATTTTTT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5341235	A A	ATATATTT others(4): Show ATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	170	0.0059	11	c.-21 others(30): Show c.-21-27314_-21-27313insATATTTTTTTT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5365317	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	170	0.0059	11	c.-21 others(28): Show c.-21-3214_-21-3204dupTTTTTTTTTTT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5405480	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01517.hp1 HG02809.hp2 others(2): Show HG01109.hp2 HG01517.hp1 HG02809.hp2 HG03017.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0010t0002 a0001c0001t0001 a0001c0001t0002 a0001c0010t0002	a0001c0001t0001g0032 a0001c0001t0002g0132 a0001c0001t0002g0134 others(2): Show a0001c0001t0001g0032 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0160 a0001c0010t0002g0111	5	170	0.0294	11	c.772 others(26): Show c.772+794_772+804dupTTTTTTTTTTT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5601631	T T	TGCCACTT others(4): Show TGCCACTTACTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	170	0.0059	11	c.106 others(32): Show c.1066-11535_1066-11525dupCACTTACTGGC	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARSA_chr19_12917479_12938711	12917659	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(43): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00733.hp1 HG00735.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01168.hp1 HG01169.hp1 HG01258.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01975.hp2 HG01978.hp1 HG02055.hp2 HG02145.hp2 HG02258.hp2 HG02602.hp1 HG02615.hp1 HG02886.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03239.hp2 HG03516.hp2 NA18612.hp2 NA18947.hp2 NA18957.hp1 NA18966.hp2 NA18985.hp1 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19011.hp1 NA19054.hp1 NA19068.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0003c0004t0001 a0001c0001t0001 a0001c0001t0002 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0103 a0001c0001t0002g0025 a0003c0004t0001g0024 a0003c0004t0001g0055	46	346	0.1330	11	c.50 others(22): Show c.5078_*5088dupAAAAAAAAAAA	FARSA	ENSG00000179115.11	transcript	ENST00000314606.9	protein_coding		4819		chr19	TogoVar
FARSA_chr19_12917479_12938711	12920125	A A	ACACACAC others(4): Show ACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01952.hp1 HG02717.hp1 others(3): Show HG01884.hp2 HG01952.hp1 HG02717.hp1 HG03098.hp1 HG03834.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0076 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0076 a0001c0007t0001g0029	6	346	0.0173	11	c.26 others(22): Show c.2622_*2623insGTGTGTGTGTG	FARSA	ENSG00000179115.11	transcript	ENST00000314606.9	protein_coding		2353		chr19	TogoVar
FAT1_chr4_186582794_186728856	186682526	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0106 a0106	a0106c0119 a0106c0119	a0106c0119t0038 a0106c0119t0038	a0106c0119t0038g0106 a0106c0119t0038g0106	1	338	0.0030	11	c.326 others(32): Show c.3266-18924_3266-18914dupTTTTTTTTTTT	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	2/26			chr4	TogoVar
FAT3_chr11_92219818_92901473	92229492	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02886.hp1 HG01099.hp1 HG02886.hp1	a0003 a0004 a0003 a0004	a0003c0041 a0004c0049 a0003c0041 a0004c0049	a0003c0041t0002 a0004c0049t0013 a0003c0041t0002 a0004c0049t0013	a0003c0041t0002g0073 a0004c0049t0013g0080 a0003c0041t0002g0073 a0004c0049t0013g0080	2	118	0.0170	11	c.-18 others(28): Show c.-18+4322_-18+4332dupTTTTTTTTTTT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92486129	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03516.hp1 NA19240.hp2 HG02886.hp1 HG03516.hp1 NA19240.hp2	a0003 a0031 a0003 a0031	a0003c0019 a0003c0041 a0031c0054 a0003c0019 a0003c0041 a0031c0054	a0003c0019t0058 a0003c0041t0002 a0031c0054t0025 a0003c0019t0058 a0003c0041t0002 a0031c0054t0025	a0003c0019t0058g0110 a0003c0041t0002g0073 a0031c0054t0025g0040 a0003c0019t0058g0110 a0003c0041t0002g0073 a0031c0054t0025g0040	3	118	0.0254	11	c.329 others(32): Show c.3293-38505_3293-38504insTTTTTTTTTTT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27			chr11	TogoVar
FAT3_chr11_92219818_92901473	92551414	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0024 a0024	a0024c0042 a0024c0042	a0024c0042t0004 a0024c0042t0004	a0024c0042t0004g0097 a0024c0042t0004g0097	1	118	0.0085	11	c.360 others(32): Show c.3607+26466_3607+26467insGTGTGTGTGTG	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	3/27			chr11	TogoVar
FAT3_chr11_92219818_92901473	92551414	T T	TTGTTTTG others(4): Show TTGTTTTGTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0004 a0009c0007t0004	a0009c0007t0004g0071 a0009c0007t0004g0071	1	118	0.0085	11	c.360 others(32): Show c.3607+26469_3607+26470insTTTGTGTGTGT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92551445	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0004 a0002c0013t0004	a0002c0013t0004g0059 a0002c0013t0004g0059	1	118	0.0085	11	c.360 others(32): Show c.3607+26497_3607+26498insGTGTGTGTGTG	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	3/27			chr11	TogoVar
FAT3_chr11_92219818_92901473	92683072	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00741.hp1 HG01069.hp2 others(51): Show HG00673.hp1 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01169.hp1 HG01243.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18940.hp2 NA18986.hp2 NA19009.hp2 NA19030.hp2 NA20300.hp1	a0001 a0002 a0003 others(21): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0016 a0019 a0020 a0022 a0024 a0025 a0026 a0040 a0041 a0042 a0046 a0047 a0049	a0001c0005 a0001c0006 a0001c0014 others(38): Show a0001c0005 a0001c0006 a0001c0014 a0001c0025 a0001c0051 a0001c0053 a0001c0084 a0001c0086 a0002c0001 a0002c0013 a0003c0010 a0003c0011 a0003c0020 a0003c0030 a0004c0012 a0004c0048 a0005c0004 a0006c0076 a0006c0077 a0006c0078 a0006c0079 a0007c0008 a0007c0043 a0008c0021 a0008c0044 a0009c0007 a0010c0072 a0012c0064 a0016c0081 a0019c0083 a0020c0016 a0022c0018 a0024c0042 a0025c0045 a0026c0040 a0040c0056 a0041c0028 a0042c0061 a0046c0067 a0047c0068 a0049c0070	a0001c0005t0019 a0001c0005t0064 a0001c0005t0065 others(49): Show a0001c0005t0019 a0001c0005t0064 a0001c0005t0065 a0001c0006t0029 a0001c0006t0067 a0001c0014t0034 a0001c0014t0036 a0001c0025t0011 a0001c0051t0088 a0001c0053t0040 a0001c0084t0014 a0001c0086t0066 a0002c0001t0009 a0002c0001t0038 a0002c0001t0073 a0002c0013t0004 a0002c0013t0051 a0003c0010t0069 a0003c0011t0005 a0003c0011t0071 a0003c0020t0086 a0003c0030t0005 a0004c0012t0002 a0004c0012t0004 a0004c0048t0047 a0005c0004t0006 a0005c0004t0017 a0005c0004t0042 a0006c0076t0002 a0006c0077t0012 a0006c0078t0002 a0006c0079t0061 a0007c0008t0010 a0007c0043t0048 a0008c0021t0024 a0008c0044t0008 a0009c0007t0004 a0010c0072t0001 a0012c0064t0041 a0016c0081t0039 a0019c0083t0009 a0020c0016t0031 a0022c0018t0063 a0024c0042t0004 a0025c0045t0003 a0026c0040t0002 a0040c0056t0070 a0041c0028t0077 a0042c0061t0001 a0046c0067t0060 a0047c0068t0037 a0049c0070t0001	a0001c0005t0019g0089 a0001c0005t0064g0006 a0001c0005t0065g0004 others(51): Show a0001c0005t0019g0089 a0001c0005t0064g0006 a0001c0005t0065g0004 a0001c0006t0029g0045 a0001c0006t0067g0018 a0001c0014t0034g0062 a0001c0014t0036g0113 a0001c0025t0011g0076 a0001c0051t0088g0016 a0001c0053t0040g0050 a0001c0084t0014g0107 a0001c0086t0066g0001 a0002c0001t0009g0105 a0002c0001t0038g0032 a0002c0001t0073g0025 a0002c0013t0004g0059 a0002c0013t0051g0083 a0003c0010t0069g0026 a0003c0011t0005g0053 a0003c0011t0071g0019 a0003c0020t0086g0017 a0003c0030t0005g0095 a0004c0012t0002g0054 a0004c0012t0004g0044 a0004c0048t0047g0055 a0005c0004t0006g0060 a0005c0004t0006g0087 a0005c0004t0006g0111 a0005c0004t0017g0058 a0005c0004t0042g0116 a0006c0076t0002g0061 a0006c0077t0012g0081 a0006c0078t0002g0065 a0006c0079t0061g0114 a0007c0008t0010g0067 a0007c0043t0048g0035 a0008c0021t0024g0101 a0008c0044t0008g0096 a0009c0007t0004g0091 a0010c0072t0001g0077 a0012c0064t0041g0086 a0016c0081t0039g0042 a0019c0083t0009g0106 a0020c0016t0031g0036 a0022c0018t0063g0012 a0024c0042t0004g0097 a0025c0045t0003g0078 a0026c0040t0002g0115 a0040c0056t0070g0021 a0041c0028t0077g0005 a0042c0061t0001g0039 a0046c0067t0060g0043 a0047c0068t0037g0085 a0049c0070t0001g0031	54	118	0.4576	11	c.360 others(32): Show c.3608-14308_3608-14298dupAAAAAAAAAAA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92754627	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp1 HG02615.hp2 HG02723.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0006 a0005c0004t0006	a0005c0004t0006g0087 a0005c0004t0006g0111 a0005c0004t0006g0087 a0005c0004t0006g0111	2	118	0.0170	11	c.367 others(30): Show c.3670-7221_3670-7211dupAAAAAAAAAAA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92878634	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp2 HG03453.hp1 HG02630.hp1 HG02723.hp2 HG03453.hp1	a0004 a0013 a0027 a0004 a0013 a0027	a0004c0062 a0013c0074 a0027c0047 a0004c0062 a0013c0074 a0027c0047	a0004c0062t0059 a0013c0074t0084 a0027c0047t0011 a0004c0062t0059 a0013c0074t0084 a0027c0047t0011	a0004c0062t0059g0118 a0013c0074t0084g0014 a0027c0047t0011g0063 a0004c0062t0059g0118 a0013c0074t0084g0014 a0027c0047t0011g0063	3	118	0.0254	11	c.121 others(32): Show c.12128-2074_12128-2064dupAAAAAAAAAAA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92882585	T T	TCCCCCCC others(4): Show TCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0034 a0001c0014t0034	a0001c0014t0034g0062 a0001c0014t0034g0062	1	118	0.0085	11	c.122 others(30): Show c.12282-143_12282-142insCCCCCCCCCCC	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAXC_chr6_99266168_99354674	99272169	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0133 a0001c0001t0096g0133	1	398	0.0025	11	c.89 others(22): Show c.8984_*8994dupCACACACACAC	FAXC	ENSG00000146267.12	transcript	ENST00000389677.6	protein_coding	6/6	8994		chr6	TogoVar
FAXC_chr6_99266168_99354674	99272191	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0136 a0001c0001t0097g0136	1	398	0.0025	11	c.89 others(22): Show c.8972_*8973insCACACACACAC	FAXC	ENSG00000146267.12	transcript	ENST00000389677.6	protein_coding	6/6	8972		chr6	TogoVar
FAXC_chr6_99266168_99354674	99318260	A A	AAACACAC others(4): Show AAACACACACAC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0131 a0001c0001t0131	a0001c0001t0131g0309 a0001c0001t0131g0309	1	398	0.0025	11	c.823 others(28): Show c.823+5183_823+5184insGTGTGTGTGTT	FAXC	ENSG00000146267.12	transcript	ENST00000389677.6	protein_coding	4/5			chr6	TogoVar
FAXC_chr6_99266168_99354674	99318306	C C	CACACACA others(4): Show CACACACAAAAA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0241 a0001c0001t0007g0241	1	398	0.0025	11	c.823 others(28): Show c.823+5137_823+5138insTTTTTGTGTGT	FAXC	ENSG00000146267.12	transcript	ENST00000389677.6	protein_coding	4/5			chr6	TogoVar
FAXDC2_chr5_154813492_154855603	154825650	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02129.hp1 HG02886.hp2 others(3): Show HG00558.hp2 HG02129.hp1 HG02886.hp2 HG03453.hp1 HG03471.hp1 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 others(2): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0001t0017 a0004c0007t0018	a0001c0001t0002g0250 a0001c0001t0002g0290 a0001c0001t0007g0076 others(3): Show a0001c0001t0002g0250 a0001c0001t0002g0290 a0001c0001t0007g0076 a0001c0001t0013g0068 a0001c0001t0017g0249 a0004c0007t0018g0084	6	310	0.0194	11	c.367 others(28): Show c.367-2069_367-2059dupTTTTTTTTTTT	FAXDC2	ENSG00000170271.11	transcript	ENST00000326080.10	protein_coding	5/8			chr5	TogoVar
FBF1_chr17_75904574_75946042	75934334	G G	GGCCATGG others(4): Show GGCCATGGAGTA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	318	0.0031	11	c.74- others(26): Show c.74-1247_74-1246insTACTCCATGGC	FBF1	ENSG00000188878.20	transcript	ENST00000636174.2	protein_coding	4/29			chr17	TogoVar
FBH1_chr10_5885243_5942593	5887708	C C	CCCCCCCC others(4): Show CCCCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 NA18949.hp1 NA18950.hp1 others(3): Show HG03669.hp2 NA18949.hp1 NA18950.hp1 NA18997.hp1 NA19007.hp2 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0238 a0001c0002t0001g0242 a0001c0002t0001g0248 others(3): Show a0001c0002t0001g0238 a0001c0002t0001g0242 a0001c0002t0001g0248 a0001c0002t0001g0250 a0001c0002t0001g0254 a0001c0002t0001g0255	6	344	0.0174	11	c.-26 others(22): Show c.-2638_-2637insCCCCCCCCCCG	FBH1	ENSG00000134452.20	transcript	ENST00000362091.9	protein_coding		2534		chr10	TogoVar
FBLIM1_chr1_15753795_15791589	15787936	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	354	0.0028	11	c.32 others(22): Show c.3275_*3276insAAAAAAAAAAA	FBLIM1	ENSG00000162458.13	transcript	ENST00000375766.8	protein_coding		1348		chr1	TogoVar
FBLIM1_chr1_15753795_15791589	15787951	A A	ATATATAT others(4): Show ATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0039 a0001c0001t0014g0039	1	354	0.0028	11	c.32 others(22): Show c.3290_*3291insTATATATATAT	FBLIM1	ENSG00000162458.13	transcript	ENST00000375766.8	protein_coding		1363		chr1	TogoVar
FBLIM1_chr1_15753795_15791589	15787953	A A	ATATATAT others(4): Show ATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0037 a0001c0001t0015g0037	1	354	0.0028	11	c.32 others(22): Show c.3292_*3293insTATATATATAT	FBLIM1	ENSG00000162458.13	transcript	ENST00000375766.8	protein_coding		1365		chr1	TogoVar
FBLIM1_chr1_15753795_15791589	15787963	A A	AAAAAAAA others(4): Show AAAAAAAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 NA18984.hp2 HG00621.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0251 a0001c0001t0001g0186 a0001c0001t0001g0251	2	354	0.0057	11	c.33 others(22): Show c.3302_*3303insAAAAAAAATAT	FBLIM1	ENSG00000162458.13	transcript	ENST00000375766.8	protein_coding		1375		chr1	TogoVar
FBLIM1_chr1_15753795_15791589	15787963	A A	AAAAAAAT others(4): Show AAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG02074.hp1 HG02559.hp2 others(6): Show HG00280.hp1 HG02074.hp1 HG02559.hp2 HG04184.hp2 NA18941.hp1 NA18944.hp1 NA18965.hp2 NA19000.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0011 a0002c0003t0008 a0001c0001t0001 a0001c0001t0011 a0002c0003t0008	a0001c0001t0001g0001 a0001c0001t0001g0125 a0001c0001t0001g0165 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0125 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0261 a0001c0001t0011g0155 a0002c0003t0008g0263	9	354	0.0254	11	c.33 others(22): Show c.3302_*3303insAAAAAATATAT	FBLIM1	ENSG00000162458.13	transcript	ENST00000375766.8	protein_coding		1375		chr1	TogoVar
FBLIM1_chr1_15753795_15791589	15787963	A A	AAAAATAT others(4): Show AAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 NA18952.hp2 NA18978.hp2 others(2): Show HG01192.hp1 NA18952.hp2 NA18978.hp2 NA18990.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0059 a0001c0001t0001g0124 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0059 a0001c0001t0001g0124 a0001c0001t0001g0179 a0001c0001t0001g0185	5	354	0.0141	11	c.33 others(22): Show c.3302_*3303insAAAATATATAT	FBLIM1	ENSG00000162458.13	transcript	ENST00000375766.8	protein_coding		1375		chr1	TogoVar
FBLIM1_chr1_15753795_15791589	15787963	A A	AAATATAT others(4): Show AAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	354	0.0028	11	c.33 others(22): Show c.3302_*3303insAATATATATAT	FBLIM1	ENSG00000162458.13	transcript	ENST00000375766.8	protein_coding		1375		chr1	TogoVar
FBLIM1_chr1_15753795_15791589	15788289	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00735.hp1 others(61): Show HG00140.hp1 HG00323.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG02109.hp1 HG02145.hp1 HG02155.hp1 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03669.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 NA18906.hp1 NA18957.hp2 NA18979.hp2 NA18989.hp1 NA19010.hp2 NA19043.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0009 a0002c0002 others(4): Show a0001c0001 a0001c0009 a0002c0002 a0002c0003 a0002c0004 a0003c0006 a0004c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0014 a0001c0001t0024 a0001c0001t0025 a0001c0009t0001 a0002c0002t0004 a0002c0002t0006 a0002c0002t0010 a0002c0002t0016 a0002c0002t0018 a0002c0003t0006 a0002c0004t0004 a0002c0004t0009 a0003c0006t0012 a0004c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0152 others(54): Show a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0152 a0001c0001t0001g0163 a0001c0001t0001g0248 a0001c0001t0003g0003 a0001c0001t0003g0204 a0001c0001t0003g0208 a0001c0001t0003g0217 a0001c0001t0003g0255 a0001c0001t0009g0231 a0001c0001t0014g0038 a0001c0001t0014g0039 a0001c0001t0024g0040 a0001c0001t0025g0041 a0001c0009t0001g0156 a0001c0009t0001g0157 a0002c0002t0004g0006 a0002c0002t0004g0012 a0002c0002t0004g0013 a0002c0002t0004g0017 a0002c0002t0004g0018 a0002c0002t0004g0043 a0002c0002t0004g0050 a0002c0002t0004g0060 a0002c0002t0004g0061 a0002c0002t0004g0062 a0002c0002t0004g0063 a0002c0002t0004g0064 a0002c0002t0004g0066 a0002c0002t0004g0067 a0002c0002t0004g0085 a0002c0002t0004g0086 a0002c0002t0004g0087 a0002c0002t0004g0089 a0002c0002t0004g0092 a0002c0002t0004g0270 a0002c0002t0006g0053 a0002c0002t0006g0054 a0002c0002t0006g0057 a0002c0002t0006g0058 a0002c0002t0010g0068 a0002c0002t0016g0052 a0002c0002t0018g0013 a0002c0002t0018g0065 a0002c0003t0006g0004 a0002c0003t0006g0143 a0002c0003t0006g0144 a0002c0003t0006g0145 a0002c0003t0006g0147 a0002c0004t0004g0046 a0002c0004t0004g0047 a0002c0004t0009g0267 a0003c0006t0012g0048 a0003c0006t0012g0049 a0004c0008t0001g0223 a0004c0008t0001g0224	64	354	0.1808	11	c.36 others(22): Show c.3628_*3629insAAAAAAAAAAA	FBLIM1	ENSG00000162458.13	transcript	ENST00000375766.8	protein_coding		1701		chr1	TogoVar
FBLL1_chr5_168524305_168535634	168524976	A A	ATATATAT others(4): Show ATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	460	0.0022	11	c.-45 others(22): Show c.-4529_-4528insTATATATATTT	FBLL1	ENSG00000188573.8	transcript	ENST00000338333.5	protein_coding		4328		chr5	TogoVar
FBLL1_chr5_168524305_168535634	168524977	T T	TATATATA others(4): Show TATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02630.hp2 HG02886.hp1 others(2): Show HG01891.hp1 HG02630.hp2 HG02886.hp1 HG03579.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0002c0002t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0002	a0001c0001t0003g0000 a0001c0001t0004g0000 a0002c0002t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0002c0002t0002g0000	5	460	0.0109	11	c.-45 others(22): Show c.-4528_-4527insATATATATATA	FBLL1	ENSG00000188573.8	transcript	ENST00000338333.5	protein_coding		4327		chr5	TogoVar
FBLN1_chr22_45497883_45606135	45534292	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	346	0.0029	11	c.784 others(26): Show c.784+412_784+422dupAAAAAAAAAAA	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBLN1_chr22_45497883_45606135	45573680	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0279 a0001c0001t0009g0279	1	346	0.0029	11	c.169 others(28): Show c.1698-820_1698-810dupAAAAAAAAAAA	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBLN1_chr22_45497883_45606135	45602817	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02970.hp2 NA20129.hp2 HG02559.hp2 HG02970.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0114 a0001c0001t0002g0201 a0001c0001t0009g0251 a0001c0001t0002g0114 a0001c0001t0002g0201 a0001c0001t0009g0251	3	346	0.0087	11	c.23 others(22): Show c.2371_*2372insAAAAAAAAAAA	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding		1683		chr22	TogoVar
FBLN2_chr3_13544125_13643404	13641089	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0005 a0005	a0005c0051 a0005c0051	a0005c0051t0015 a0005c0051t0015	a0005c0051t0015g0279 a0005c0051t0015g0279	1	312	0.0032	11	c.31 others(22): Show c.3170_*3171insAAAAAAAAAAA	FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding		2686		chr3	TogoVar
FBLN5_chr14_91864411_91952694	91883645	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02257.hp1 HG02630.hp1 others(1): Show HG01261.hp2 HG02257.hp1 HG02630.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0002g0265 others(1): Show a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0002g0265 a0001c0001t0002g0291	4	360	0.0111	11	c.740 others(26): Show c.740-580_740-570dupTTTTTTTTTTT	FBLN5	ENSG00000140092.16	transcript	ENST00000342058.9	protein_coding	7/10			chr14	TogoVar
FBLN5_chr14_91864411_91952694	91919378	A A	AAGAAAGA others(4): Show AAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02258.hp1 others(1): Show HG01069.hp2 HG01071.hp1 HG02258.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0001 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0060 a0001c0001t0006g0257 a0001c0001t0006g0258 others(1): Show a0001c0001t0001g0060 a0001c0001t0006g0257 a0001c0001t0006g0258 a0001c0001t0009g0270	4	360	0.0111	11	c.379 others(30): Show c.379+17568_379+17569insCCTTTCTTTCT	FBLN5	ENSG00000140092.16	transcript	ENST00000342058.9	protein_coding	4/10			chr14	TogoVar
FBN1_chr15_48403313_48650709	48417469	T T	TTCCTTCC others(4): Show TTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	288	0.0035	11	c.782 others(30): Show c.7820-1703_7820-1702insGGAAGGAAGGA	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	63/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48475010	A A	ACTCCATA others(4): Show ACTCCATAGTGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp1 HG02572.hp1 others(7): Show HG01243.hp1 HG02257.hp1 HG02572.hp1 HG02572.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03453.hp1 HG03540.hp1 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0010 a0001c0022 others(1): Show a0001c0001 a0001c0010 a0001c0022 a0003c0008	a0001c0001t0005 a0001c0001t0011 a0001c0010t0011 others(2): Show a0001c0001t0005 a0001c0001t0011 a0001c0010t0011 a0001c0022t0013 a0003c0008t0005	a0001c0001t0005g0136 a0001c0001t0005g0141 a0001c0001t0005g0280 others(7): Show a0001c0001t0005g0136 a0001c0001t0005g0141 a0001c0001t0005g0280 a0001c0001t0011g0007 a0001c0001t0011g0008 a0001c0001t0011g0009 a0001c0010t0011g0193 a0001c0022t0013g0010 a0003c0008t0005g0015 a0003c0008t0005g0122	10	288	0.0347	11	c.396 others(28): Show c.3965-361_3965-360insGCACTATGGAG	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	32/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48568030	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02970.hp1 HG03041.hp1 HG02258.hp1 HG02970.hp1 HG03041.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0003 a0001c0005t0013 a0001c0006t0014 a0001c0005t0003 a0001c0005t0013 a0001c0006t0014	a0001c0005t0003g0210 a0001c0005t0013g0199 a0001c0006t0014g0004 a0001c0005t0003g0210 a0001c0005t0013g0199 a0001c0006t0014g0004	3	288	0.0104	11	c.538 others(30): Show c.538+28242_538+28252dupCTTTCTTTCTT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FBN2_chr5_128252909_128543245	128299434	C C	CGCTGCCG others(4): Show CGCTGCCGCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00639.hp1 others(45): Show HG00099.hp2 HG00323.hp2 HG00639.hp1 HG01081.hp2 HG01361.hp1 HG01516.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02818.hp2 HG02922.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18949.hp1 NA18951.hp2 NA18956.hp2 NA18967.hp2 NA18977.hp2 NA18998.hp1 NA19003.hp1 NA19010.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19077.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0008 a0011 a0012 a0013 a0021 a0022 a0024 a0025 a0027	a0001c0003 a0001c0021 a0001c0033 others(26): Show a0001c0003 a0001c0021 a0001c0033 a0001c0054 a0002c0002 a0002c0015 a0002c0023 a0002c0029 a0002c0032 a0002c0034 a0002c0037 a0002c0038 a0002c0039 a0002c0040 a0002c0041 a0002c0055 a0002c0059 a0003c0044 a0004c0005 a0008c0042 a0008c0063 a0011c0018 a0012c0026 a0013c0047 a0021c0067 a0022c0066 a0024c0068 a0025c0069 a0027c0027	a0001c0003t0006 a0001c0021t0001 a0001c0021t0003 others(30): Show a0001c0003t0006 a0001c0021t0001 a0001c0021t0003 a0001c0033t0005 a0001c0054t0001 a0002c0002t0005 a0002c0015t0008 a0002c0015t0010 a0002c0023t0007 a0002c0023t0038 a0002c0029t0027 a0002c0032t0009 a0002c0034t0004 a0002c0037t0023 a0002c0038t0004 a0002c0039t0005 a0002c0040t0002 a0002c0041t0011 a0002c0055t0008 a0002c0059t0005 a0003c0044t0004 a0004c0005t0001 a0004c0005t0002 a0008c0042t0012 a0008c0063t0012 a0011c0018t0003 a0012c0026t0002 a0013c0047t0002 a0021c0067t0004 a0022c0066t0021 a0024c0068t0002 a0025c0069t0005 a0027c0027t0008	a0001c0003t0006g0060 a0001c0021t0001g0206 a0001c0021t0003g0010 others(45): Show a0001c0003t0006g0060 a0001c0021t0001g0206 a0001c0021t0003g0010 a0001c0033t0005g0037 a0001c0054t0001g0194 a0002c0002t0005g0086 a0002c0002t0005g0102 a0002c0015t0008g0024 a0002c0015t0010g0025 a0002c0023t0007g0121 a0002c0023t0038g0235 a0002c0029t0027g0118 a0002c0032t0009g0039 a0002c0034t0004g0038 a0002c0037t0023g0034 a0002c0038t0004g0035 a0002c0039t0005g0031 a0002c0040t0002g0041 a0002c0041t0011g0029 a0002c0055t0008g0093 a0002c0059t0005g0092 a0003c0044t0004g0053 a0004c0005t0001g0191 a0004c0005t0001g0192 a0004c0005t0001g0193 a0004c0005t0001g0195 a0004c0005t0001g0196 a0004c0005t0001g0197 a0004c0005t0001g0198 a0004c0005t0001g0199 a0004c0005t0001g0200 a0004c0005t0001g0205 a0004c0005t0001g0209 a0004c0005t0001g0214 a0004c0005t0001g0232 a0004c0005t0002g0069 a0008c0042t0012g0054 a0008c0063t0012g0096 a0011c0018t0003g0007 a0011c0018t0003g0016 a0012c0026t0002g0107 a0012c0026t0002g0108 a0013c0047t0002g0059 a0021c0067t0004g0098 a0022c0066t0021g0101 a0024c0068t0002g0106 a0025c0069t0005g0109 a0027c0027t0008g0020	48	236	0.2034	11	c.616 others(30): Show c.6166+1382_6166+1383insAAGGCGGCAGC	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	48/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128299434	C C	CGCTGCTG others(4): Show CGCTGCTGCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(106): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01516.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02155.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02886.hp1 HG03017.hp1 HG03195.hp2 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03654.hp2 HG03669.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18940.hp1 NA18949.hp2 NA18951.hp1 NA18956.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19057.hp1 NA19058.hp1 NA19063.hp2 NA19065.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0007 a0009 a0010 a0014 a0015 a0017	a0001c0001 a0001c0008 a0001c0009 others(18): Show a0001c0001 a0001c0008 a0001c0009 a0001c0031 a0001c0045 a0001c0048 a0001c0050 a0001c0052 a0001c0058 a0002c0002 a0002c0060 a0003c0006 a0003c0010 a0003c0013 a0003c0016 a0007c0022 a0009c0024 a0010c0020 a0014c0053 a0015c0049 a0017c0061	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0030 a0001c0008t0029 a0001c0009t0002 a0001c0031t0026 a0001c0045t0006 a0001c0048t0001 a0001c0050t0001 a0001c0052t0002 a0001c0058t0020 a0002c0002t0001 a0002c0002t0002 a0002c0002t0015 a0002c0002t0034 a0002c0002t0035 a0002c0060t0007 a0003c0006t0004 a0003c0010t0002 a0003c0010t0024 a0003c0013t0007 a0003c0013t0016 a0003c0016t0002 a0007c0022t0001 a0009c0024t0007 a0010c0020t0001 a0014c0053t0039 a0015c0049t0002 a0017c0061t0031	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0142 others(106): Show a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0003g0002 a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0013g0110 a0001c0001t0013g0111 a0001c0001t0030g0119 a0001c0008t0029g0117 a0001c0009t0002g0040 a0001c0009t0002g0049 a0001c0031t0026g0116 a0001c0045t0006g0026 a0001c0048t0001g0120 a0001c0050t0001g0208 a0001c0052t0002g0081 a0001c0058t0020g0019 a0002c0002t0001g0125 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0135 a0002c0002t0001g0161 a0002c0002t0001g0163 a0002c0002t0001g0165 a0002c0002t0001g0168 a0002c0002t0001g0183 a0002c0002t0001g0207 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0074 a0002c0002t0002g0078 a0002c0002t0015g0134 a0002c0002t0034g0167 a0002c0002t0035g0133 a0002c0060t0007g0228 a0003c0006t0004g0042 a0003c0006t0004g0044 a0003c0006t0004g0045 a0003c0006t0004g0046 a0003c0006t0004g0047 a0003c0006t0004g0048 a0003c0006t0004g0050 a0003c0006t0004g0051 a0003c0010t0002g0099 a0003c0010t0024g0097 a0003c0013t0007g0171 a0003c0013t0007g0203 a0003c0013t0016g0003 a0003c0016t0002g0043 a0007c0022t0001g0131 a0007c0022t0001g0216 a0009c0024t0007g0122 a0009c0024t0007g0123 a0010c0020t0001g0149 a0010c0020t0001g0151 a0014c0053t0039g0236 a0015c0049t0002g0066 a0017c0061t0031g0169	109	236	0.4619	11	c.616 others(30): Show c.6166+1382_6166+1383insAAGGCAGCAGC	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	48/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128539808	T T	TCATATAT others(4): Show TCATATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0027 a0027	a0027c0027 a0027c0027	a0027c0027t0008 a0027c0027t0008	a0027c0027t0008g0020 a0027c0027t0008g0020	1	236	0.0042	11	c.-22 others(22): Show c.-2206_-2205insTGATATATATG	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1564		chr5	TogoVar
FBN2_chr5_128252909_128543245	128539830	C C	CATATATA others(4): Show CATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0014 a0001c0014t0014	a0001c0014t0014g0114 a0001c0014t0014g0114	1	236	0.0042	11	c.-22 others(22): Show c.-2228_-2227insATGATATATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1586		chr5	TogoVar
FBN2_chr5_128252909_128543245	128539836	T T	TATCATAT others(4): Show TATCATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG03209.hp1 HG02257.hp2 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0029 a0001c0008 a0002c0029	a0001c0008t0025 a0002c0029t0027 a0001c0008t0025 a0002c0029t0027	a0001c0008t0025g0115 a0002c0029t0027g0118 a0001c0008t0025g0115 a0002c0029t0027g0118	2	236	0.0085	11	c.-22 others(22): Show c.-2234_-2233insTGATATATGAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1592		chr5	TogoVar
FBN2_chr5_128252909_128543245	128539908	C C	CACATATA others(4): Show CACATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0008 a0002c0015t0008	a0002c0015t0008g0024 a0002c0015t0008g0024	1	236	0.0042	11	c.-23 others(22): Show c.-2306_-2305insATGATATATGT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1664		chr5	TogoVar
FBN2_chr5_128252909_128543245	128539914	T T	TATCATAT others(4): Show TATCATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0027 a0027	a0027c0027 a0027c0027	a0027c0027t0008 a0027c0027t0008	a0027c0027t0008g0020 a0027c0027t0008g0020	1	236	0.0042	11	c.-23 others(22): Show c.-2312_-2311insTGATATATGAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1670		chr5	TogoVar

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