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	5539396	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0102 a0001c0004t0002g0102	1	170	0.0059	28	c.905 others(45): Show c.905-5781_905-5780insATATATATATATATATATATATATGTAT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5584108	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02258.hp1 NA18942.hp2 others(1): Show HG01496.hp1 HG02258.hp1 NA18942.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0058 a0001c0001t0002g0108 a0001c0001t0002g0123 others(1): Show a0001c0001t0001g0058 a0001c0001t0002g0108 a0001c0001t0002g0123 a0001c0001t0002g0143	4	170	0.0235	28	c.106 others(49): Show c.1066-29054_1066-29027dupACACACACACACACACACACACAC ACAC	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5656562	T T	TGGTCTGT others(21): Show TGGTCTGTATGTATATATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG00642.hp2 others(77): Show HG00438.hp1 HG00621.hp1 HG00642.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01517.hp1 HG01934.hp2 HG01952.hp2 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03704.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18968.hp1 NA18970.hp1 NA18999.hp2 NA19005.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0010 a0002c0002 a0002c0006 a0003c0012 a0004c0011 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0003t0004 a0001c0004t0002 a0001c0010t0002 a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 a0003c0012t0002 a0004c0011t0001 a0005c0008t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(77): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0138 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0169 a0001c0001t0003g0156 a0001c0001t0003g0164 a0001c0001t0006g0163 a0001c0003t0004g0003 a0001c0004t0002g0095 a0001c0004t0002g0102 a0001c0004t0002g0147 a0001c0004t0002g0150 a0001c0010t0002g0111 a0002c0002t0001g0015 a0002c0002t0001g0018 a0002c0002t0001g0022 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0060 a0002c0002t0001g0065 a0002c0002t0002g0142 a0002c0002t0002g0162 a0002c0006t0001g0064 a0003c0012t0002g0151 a0004c0011t0001g0012 a0005c0008t0002g0168	80	170	0.4706	28	c.121 others(49): Show c.1217+43242_1217+43243insGGTCTGTATGTATATATTTATTTA TTTA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	6/6			chr6	TogoVar
FARS2_chr6_5256513_5776583	5717935	T T	TAGAGAGA others(21): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	170	0.0059	28	c.121 others(49): Show c.1218-53355_1218-53354insGAGAGAGAGAGAGAGAGAGAGAGA GAGA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAT1_chr4_186582794_186728856	186594678	A A	ATATATAT others(21): Show ATATATATATATATATATATACTTGAAAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03453.hp1 HG03098.hp1 HG03453.hp1	a0048 a0048	a0048c0054 a0048c0054	a0048c0054t0030 a0048c0054t0030	a0048c0054t0030g0016 a0048c0054t0030g0109 a0048c0054t0030g0016 a0048c0054t0030g0109	2	338	0.0059	28	c.131 others(49): Show c.13138+1010_13138+1011insCTTTCAAGTATATATATATATATA TATA	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	26/26			chr4	TogoVar
FAT1_chr4_186582794_186728856	186605518	A A	AGGGGAGT others(21): Show AGGGGAGTGGGGAGGAGGAAGAGAAGGAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00621.hp2 others(35): Show HG00438.hp2 HG00597.hp1 HG00621.hp2 HG00738.hp2 HG01123.hp2 HG01261.hp1 HG01516.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02071.hp2 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG02735.hp1 HG06807.hp1 NA18939.hp2 NA18942.hp1 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18990.hp1 NA19000.hp1 NA19004.hp2 NA19062.hp1 NA19068.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19085.hp2 NA19090.hp1 NA20300.hp2	a0006 a0012 a0013 others(9): Show a0006 a0012 a0013 a0023 a0030 a0032 a0039 a0040 a0050 a0095 a0102 a0123	a0006c0005 a0006c0042 a0012c0014 others(13): Show a0006c0005 a0006c0042 a0012c0014 a0012c0021 a0012c0074 a0013c0006 a0023c0019 a0030c0025 a0032c0029 a0039c0033 a0040c0032 a0050c0141 a0050c0143 a0095c0093 a0102c0115 a0123c0142	a0006c0005t0004 a0006c0005t0055 a0006c0042t0004 others(17): Show a0006c0005t0004 a0006c0005t0055 a0006c0042t0004 a0012c0014t0004 a0012c0021t0001 a0012c0021t0018 a0012c0074t0004 a0013c0006t0004 a0013c0006t0008 a0023c0019t0010 a0030c0025t0016 a0032c0029t0008 a0039c0033t0002 a0039c0033t0052 a0040c0032t0002 a0050c0141t0012 a0050c0143t0034 a0095c0093t0001 a0102c0115t0002 a0123c0142t0009	a0006c0005t0004g0193 a0006c0005t0004g0197 a0006c0005t0004g0205 others(35): Show a0006c0005t0004g0193 a0006c0005t0004g0197 a0006c0005t0004g0205 a0006c0005t0004g0213 a0006c0005t0004g0235 a0006c0005t0004g0236 a0006c0005t0004g0246 a0006c0005t0055g0322 a0006c0042t0004g0203 a0006c0042t0004g0204 a0012c0014t0004g0161 a0012c0014t0004g0171 a0012c0014t0004g0271 a0012c0014t0004g0273 a0012c0021t0001g0278 a0012c0021t0018g0170 a0012c0021t0018g0257 a0012c0074t0004g0258 a0013c0006t0004g0182 a0013c0006t0008g0032 a0013c0006t0008g0034 a0013c0006t0008g0037 a0013c0006t0008g0047 a0013c0006t0008g0048 a0013c0006t0008g0053 a0023c0019t0010g0148 a0030c0025t0016g0142 a0032c0029t0008g0044 a0032c0029t0008g0045 a0039c0033t0002g0256 a0039c0033t0052g0288 a0040c0032t0002g0254 a0040c0032t0002g0255 a0050c0141t0012g0138 a0050c0143t0034g0289 a0095c0093t0001g0233 a0102c0115t0002g0199 a0123c0142t0009g0306	38	338	0.1124	28	c.103 others(47): Show c.10350+524_10350+551dupCTCCTTCTCTTCCTCCTCCCCACTCC CC	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	17/26			chr4	TogoVar
FAT2_chr5_151499092_151596331	151534970	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02738.hp2 HG03927.hp2 others(2): Show HG02683.hp1 HG02738.hp2 HG03927.hp2 NA19012.hp1 NA20805.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0068	a0001c0032 a0002c0001 a0002c0008 others(2): Show a0001c0032 a0002c0001 a0002c0008 a0006c0005 a0068c0135	a0001c0032t0008 a0002c0001t0001 a0002c0008t0002 others(2): Show a0001c0032t0008 a0002c0001t0001 a0002c0008t0002 a0006c0005t0001 a0068c0135t0001	a0001c0032t0008g0108 a0002c0001t0001g0300 a0002c0008t0002g0348 others(2): Show a0001c0032t0008g0108 a0002c0001t0001g0300 a0002c0008t0002g0348 a0006c0005t0001g0302 a0068c0135t0001g0027	5	398	0.0126	28	c.919 others(45): Show c.9194-329_9194-328insATATATATATATATATATATATATATAT	FAT2	ENSG00000086570.13	transcript	ENST00000261800.6	protein_coding	12/23			chr5	TogoVar
FAT3_chr11_92219818_92901473	92368833	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0027 a0027	a0027c0047 a0027c0047	a0027c0047t0011 a0027c0047t0011	a0027c0047t0011g0063 a0027c0047t0011g0063	1	118	0.0085	28	c.329 others(49): Show c.3292+13444_3292+13445insTATATATATATATATATATATATA TATA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92368847	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0035 a0035	a0035c0085 a0035c0085	a0035c0085t0014 a0035c0085t0014	a0035c0085t0014g0108 a0035c0085t0014g0108	1	118	0.0085	28	c.329 others(49): Show c.3292+13444_3292+13445insTATATATATATATATATATATATA CACA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92442111	A A	ATATATAT others(21): Show ATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0051 a0002c0013t0051	a0002c0013t0051g0083 a0002c0013t0051g0083	1	118	0.0085	28	c.329 others(49): Show c.3293-82522_3293-82521insATATATATATATATTTTTTTTTTT TTTT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92478934	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0044 a0044	a0044c0015 a0044c0015	a0044c0015t0082 a0044c0015t0082	a0044c0015t0082g0007 a0044c0015t0082g0007	1	118	0.0085	28	c.329 others(49): Show c.3293-45679_3293-45678insCTTTCTTTCTTTCTTTCTTTCTTT CTTT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92499723	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0014 a0014	a0014c0071 a0014c0071	a0014c0071t0054 a0014c0071t0054	a0014c0071t0054g0064 a0014c0071t0054g0064	1	118	0.0085	28	c.329 others(49): Show c.3293-24898_3293-24897insATGTGTGTGTGTGTGTGTGTGTGT GTGT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92553675	C C	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02145.hp2 HG02886.hp2 others(2): Show HG02015.hp1 HG02145.hp2 HG02886.hp2 HG02970.hp2 NA19009.hp2	a0001 a0019 a0024 a0001 a0019 a0024	a0001c0005 a0001c0006 a0001c0051 others(2): Show a0001c0005 a0001c0006 a0001c0051 a0019c0083 a0024c0042	a0001c0005t0064 a0001c0006t0052 a0001c0051t0088 others(2): Show a0001c0005t0064 a0001c0006t0052 a0001c0051t0088 a0019c0083t0009 a0024c0042t0004	a0001c0005t0064g0006 a0001c0006t0052g0028 a0001c0051t0088g0016 others(2): Show a0001c0005t0064g0006 a0001c0006t0052g0028 a0001c0051t0088g0016 a0019c0083t0009g0106 a0024c0042t0004g0097	5	118	0.0424	28	c.360 others(49): Show c.3607+28748_3607+28775dupCCTTCCTTCCTTCCTTCCTTCCTT CCTT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92753798	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0004 a0004	a0004c0046 a0004c0046	a0004c0046t0001 a0004c0046t0001	a0004c0046t0001g0099 a0004c0046t0001g0099	1	118	0.0085	28	c.367 others(47): Show c.3670-8057_3670-8056insGTATATATATATATATATATATATAT AT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT4_chr4_125309955_125497932	125440610	T T	TGTGTGTG others(21): Show TGTGTGTGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01081.hp1 HG01496.hp2 others(1): Show HG00423.hp1 HG01081.hp1 HG01496.hp2 HG01891.hp2	a0005 a0023 a0005 a0023	a0005c0004 a0023c0082 a0005c0004 a0023c0082	a0005c0004t0002 a0023c0082t0001 a0005c0004t0002 a0023c0082t0001	a0005c0004t0002g0097 a0005c0004t0002g0100 a0005c0004t0002g0110 others(1): Show a0005c0004t0002g0097 a0005c0004t0002g0100 a0005c0004t0002g0110 a0023c0082t0001g0096	4	320	0.0125	28	c.720 others(47): Show c.7200-5682_7200-5681insTGTGTGAGAGAGAGAGAGAGAGAGAG AG	FAT4	ENSG00000196159.14	transcript	ENST00000394329.9	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAXC_chr6_99266168_99354674	99288847	G G	GACACACA others(21): Show GACACACACACACACATACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0249 a0001c0001t0117g0249	1	398	0.0025	28	c.940 others(45): Show c.940+2856_940+2857insGTGTGTGTGTGTATGTGTGTGTGTGTGT	FAXC	ENSG00000146267.12	transcript	ENST00000389677.6	protein_coding	5/5			chr6	TogoVar
FBLN1_chr22_45497883_45606135	45555248	C C	CATATATA others(21): Show CATATATATATATATATATAAAATGGAAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0334 a0001c0001t0002g0334	1	346	0.0029	28	c.169 others(47): Show c.1697+4650_1697+4651insTAAAATGGAATATATATATATATATA TA	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBLN1_chr22_45497883_45606135	45555248	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	346	0.0029	28	c.169 others(47): Show c.1697+4650_1697+4651insTATATATATATATATATATATATATA TA	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(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 NA18942.hp2 HG01109.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0239 a0001c0002t0001g0311 a0001c0001t0001g0239 a0001c0002t0001g0311	2	346	0.0058	28	c.23 others(39): Show c.2371_*2372insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding		1683		chr22	TogoVar
FBLN2_chr3_13544125_13643404	13612294	C C	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01109.hp2 HG02080.hp2 others(6): Show HG00099.hp1 HG01109.hp2 HG02080.hp2 HG02132.hp2 HG02559.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03130.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0008 a0024 a0025	a0001c0004 a0001c0012 a0001c0019 others(6): Show a0001c0004 a0001c0012 a0001c0019 a0001c0026 a0002c0002 a0006c0082 a0008c0022 a0024c0053 a0025c0054	a0001c0004t0001 a0001c0012t0001 a0001c0019t0005 others(6): Show a0001c0004t0001 a0001c0012t0001 a0001c0019t0005 a0001c0026t0001 a0002c0002t0001 a0006c0082t0012 a0008c0022t0001 a0024c0053t0004 a0025c0054t0004	a0001c0004t0001g0253 a0001c0012t0001g0256 a0001c0019t0005g0259 others(6): Show a0001c0004t0001g0253 a0001c0012t0001g0256 a0001c0019t0005g0259 a0001c0026t0001g0090 a0002c0002t0001g0085 a0006c0082t0012g0310 a0008c0022t0001g0296 a0024c0053t0004g0147 a0025c0054t0004g0201	9	312	0.0289	28	c.154 others(47): Show c.1549-1669_1549-1642dupCTTTCTTTCTTTCTTTCTTTCTTTCT TT	FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
FBLN2_chr3_13544125_13643404	13633954	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG01346.hp2 others(18): Show HG00323.hp1 HG00597.hp2 HG01346.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02074.hp1 HG02074.hp2 HG02523.hp2 HG02559.hp1 HG03540.hp2 NA18747.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18959.hp1 NA18975.hp1 NA18983.hp1 NA19010.hp2 NA19011.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0018 a0031	a0001c0003 a0001c0004 a0001c0006 others(9): Show a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0016 a0001c0017 a0002c0001 a0002c0002 a0002c0068 a0004c0055 a0018c0066 a0031c0086	a0001c0003t0002 a0001c0004t0001 a0001c0006t0001 others(9): Show a0001c0003t0002 a0001c0004t0001 a0001c0006t0001 a0001c0007t0002 a0001c0016t0004 a0001c0017t0001 a0002c0001t0002 a0002c0002t0001 a0002c0068t0003 a0004c0055t0008 a0018c0066t0002 a0031c0086t0004	a0001c0003t0002g0218 a0001c0004t0001g0211 a0001c0004t0001g0222 others(18): Show a0001c0003t0002g0218 a0001c0004t0001g0211 a0001c0004t0001g0222 a0001c0006t0001g0156 a0001c0006t0001g0159 a0001c0007t0002g0170 a0001c0007t0002g0187 a0001c0016t0004g0064 a0001c0017t0001g0171 a0002c0001t0002g0110 a0002c0001t0002g0179 a0002c0001t0002g0263 a0002c0002t0001g0014 a0002c0002t0001g0030 a0002c0002t0001g0102 a0002c0002t0001g0118 a0002c0002t0001g0121 a0002c0068t0003g0262 a0004c0055t0008g0146 a0018c0066t0002g0081 a0031c0086t0004g0065	21	312	0.0673	28	c.321 others(47): Show c.3215-2477_3215-2450dupCACACACACACACACACACACACACA CA	FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
FBLN7_chr2_112133385_112193218	112134887	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTCTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	346	0.0029	28	c.-37 others(39): Show c.-3769_-3768insTTTTTTTTTTTTTTTCTTTTTTTTTTTT	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding		3497		chr2	TogoVar
FBLN7_chr2_112133385_112193218	112134887	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTCTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	346	0.0029	28	c.-37 others(39): Show c.-3769_-3768insTTTTTTTTTTTTTTTTTCTTTTTTTTTT	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding		3497		chr2	TogoVar
FBLN7_chr2_112133385_112193218	112134887	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01192.hp2 HG01243.hp2 others(23): Show HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01496.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02074.hp1 HG02074.hp2 HG02280.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02723.hp2 HG02896.hp1 HG03041.hp2 HG03139.hp1 HG04184.hp1 NA18522.hp2 NA18939.hp1 NA18960.hp2 NA18969.hp1 NA19009.hp2 NA19060.hp1 NA19086.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0003c0003 a0009c0013 a0001c0001 a0003c0003 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0009c0013t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0032 others(22): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0113 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0225 a0001c0001t0001g0252 a0001c0001t0002g0254 a0003c0003t0001g0094 a0003c0003t0001g0095 a0009c0013t0001g0174	26	346	0.0751	28	c.-37 others(39): Show c.-3769_-3768insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding		3497		chr2	TogoVar
FBLN7_chr2_112133385_112193218	112184685	G G	GTATATAT others(21): Show GTATATATGGTATATATATGTATATGGTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(171): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18956.hp2 NA18957.hp1 NA18961.hp2 NA18964.hp1 NA18969.hp2 NA18979.hp1 NA18983.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp2 NA18999.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19085.hp1 NA19086.hp1 NA19091.hp1 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0005 a0001c0007 others(6): Show a0001c0001 a0001c0005 a0001c0007 a0002c0002 a0004c0004 a0005c0009 a0006c0010 a0007c0011 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0005t0007 a0001c0007t0001 a0002c0002t0002 a0002c0002t0003 a0004c0004t0002 a0005c0009t0001 a0006c0010t0001 a0007c0011t0001 a0008c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(150): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0201 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0002g0010 a0001c0001t0002g0033 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0078 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0105 a0001c0001t0002g0124 a0001c0001t0002g0160 a0001c0001t0002g0195 a0001c0001t0002g0202 a0001c0001t0002g0232 a0001c0001t0002g0254 a0001c0001t0002g0269 a0001c0001t0003g0012 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0052 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0197 a0001c0001t0003g0200 a0001c0001t0003g0231 a0001c0001t0003g0235 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0262 a0001c0001t0003g0274 a0001c0001t0004g0062 a0001c0001t0004g0064 a0001c0001t0005g0025 a0001c0001t0005g0055 a0001c0001t0005g0080 a0001c0001t0005g0191 a0001c0001t0005g0196 a0001c0001t0005g0244 a0001c0001t0006g0058 a0001c0001t0006g0060 a0001c0001t0006g0063 a0001c0001t0006g0065 a0001c0001t0006g0066 a0001c0001t0006g0067 a0001c0001t0008g0186 a0001c0001t0008g0187 a0001c0001t0010g0163 a0001c0001t0011g0001 a0001c0001t0013g0248 a0001c0005t0007g0011 a0001c0007t0001g0264 a0002c0002t0002g0056 a0002c0002t0002g0119 a0002c0002t0003g0084 a0004c0004t0002g0020 a0005c0009t0001g0266 a0006c0010t0001g0223 a0007c0011t0001g0205 a0008c0008t0001g0300	174	346	0.5029	28	c.809 others(43): Show c.809-497_809-496insTATATGGTATATATATGGTATATATATG	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FBN1_chr15_48403313_48650709	48435772	A A	ATATATGT others(21): Show ATATATGTGTGTATATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01257.hp1 HG02258.hp1 others(6): Show HG00544.hp2 HG01257.hp1 HG02258.hp1 HG02523.hp1 HG02615.hp1 HG03471.hp2 NA18986.hp2 NA18999.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0001c0021	a0001c0001t0001 a0001c0005t0014 a0001c0006t0014 others(1): Show a0001c0001t0001 a0001c0005t0014 a0001c0006t0014 a0001c0021t0001	a0001c0001t0001g0002 a0001c0001t0001g0220 a0001c0001t0001g0265 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0220 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0286 a0001c0005t0014g0196 a0001c0006t0014g0004 a0001c0021t0001g0218	9	288	0.0313	28	c.649 others(47): Show c.6497-1060_6497-1059insCATATATACATATATATACACACATA TA	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	53/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48567998	T T	TAAGAAAG others(21): Show TAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19081.hp1 NA18994.hp1 NA19081.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0006 a0002c0003t0002 a0002c0003t0006	a0002c0003t0002g0148 a0002c0003t0006g0160 a0002c0003t0002g0148 a0002c0003t0006g0160	2	288	0.0069	28	c.538 others(47): Show c.538+28257_538+28284dupTCTTTCTTTCTTTCTTTCTTTCTTTC TT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48568049	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAAGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0024 a0001c0002t0003g0024	1	288	0.0035	28	c.538 others(47): Show c.538+28233_538+28234insTCTTTCTTCTTTCTTTCTTTCTTTCT TT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48568049	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03579.hp2 NA19240.hp2 HG02922.hp1 HG03579.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0002t0007 a0001c0004t0010 a0001c0001t0002 a0001c0002t0007 a0001c0004t0010	a0001c0001t0002g0076 a0001c0002t0007g0021 a0001c0004t0010g0012 a0001c0001t0002g0076 a0001c0002t0007g0021 a0001c0004t0010g0012	3	288	0.0104	28	c.538 others(47): Show c.538+28233_538+28234insTCTTTCTTTCTTCTTTCTTTCTTTCT TT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48568049	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp1 HG02723.hp1 others(4): Show HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02897.hp2 HG03098.hp2 HG03209.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0009	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0007t0002 a0002c0009t0001	a0001c0001t0001g0128 a0001c0001t0001g0279 a0001c0002t0001g0022 others(4): Show a0001c0001t0001g0128 a0001c0001t0001g0279 a0001c0002t0001g0022 a0001c0002t0001g0124 a0001c0005t0001g0198 a0001c0007t0002g0013 a0002c0009t0001g0211	7	288	0.0243	28	c.538 others(47): Show c.538+28233_538+28234insTCTTTCTTTCTTTCTTCTTTCTTTCT TT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48568049	G G	GAAAGAAA others(21): Show GAAAGAAAGAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01361.hp1 HG01255.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0007 a0001c0001t0002 a0001c0002t0007	a0001c0001t0002g0073 a0001c0002t0007g0127 a0001c0001t0002g0073 a0001c0002t0007g0127	2	288	0.0069	28	c.538 others(47): Show c.538+28233_538+28234insTCTTTCTTTCTTTCTTTCTTCTTTCT TT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FBN2_chr5_128252909_128543245	128434394	G G	GTATATAT others(21): Show GTATATATATATATGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18992.hp2 NA18977.hp1 NA18992.hp2	a0001 a0003 a0001 a0003	a0001c0052 a0003c0064 a0001c0052 a0003c0064	a0001c0052t0002 a0003c0064t0004 a0001c0052t0002 a0003c0064t0004	a0001c0052t0002g0081 a0003c0064t0004g0080 a0001c0052t0002g0081 a0003c0064t0004g0080	2	236	0.0085	28	c.952 others(47): Show c.952+12086_952+12087insTATATATATATATACATATATATATA TA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	7/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128434424	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG03041.hp2 others(1): Show HG01256.hp2 HG01258.hp1 HG03041.hp2 HG03139.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0009 a0003c0006 a0001c0003 a0001c0009 a0003c0006	a0001c0003t0005 a0001c0009t0006 a0003c0006t0004 a0001c0003t0005 a0001c0009t0006 a0003c0006t0004	a0001c0003t0005g0100 a0001c0009t0006g0028 a0003c0006t0004g0044 others(1): Show a0001c0003t0005g0100 a0001c0009t0006g0028 a0003c0006t0004g0044 a0003c0006t0004g0045	4	236	0.0170	28	c.952 others(47): Show c.952+12056_952+12057insCATATATATATATATATATATATATA TA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	7/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128455990	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0012 a0012	a0012c0026 a0012c0026	a0012c0026t0002 a0012c0026t0002	a0012c0026t0002g0107 a0012c0026t0002g0107	1	236	0.0042	28	c.826 others(45): Show c.826+8706_826+8733dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	6/64			chr5	TogoVar
FBN3_chr19_8060402_8154592	8130636	G G	GGAAGGAA others(21): Show GGAAGGAAGGAAGGAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0044 a0044	a0044c0053 a0044c0053	a0044c0053t0002 a0044c0053t0002	a0044c0053t0002g0192 a0044c0053t0002g0236 a0044c0053t0002g0192 a0044c0053t0002g0236	2	380	0.0053	28	c.204 others(45): Show c.2044+598_2044+599insTCCTTTCCTTTCCTTCCTTCCTTCCTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FBN3_chr19_8060402_8154592	8130636	G G	GGAAGGAA others(21): Show GGAAGGAAGGAAGGAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0029 a0029	a0029c0202 a0029c0202	a0029c0202t0001 a0029c0202t0001	a0029c0202t0001g0195 a0029c0202t0001g0195	1	380	0.0026	28	c.204 others(45): Show c.2044+598_2044+599insTCCTTTCCCTTCCTTCCTTCCTTCCTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FBN3_chr19_8060402_8154592	8130639	A A	AGAAAGGA others(21): Show AGAAAGGAAGGAAGGAAGGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0147 a0147	a0147c0075 a0147c0075	a0147c0075t0001 a0147c0075t0001	a0147c0075t0001g0255 a0147c0075t0001g0255	1	380	0.0026	28	c.204 others(45): Show c.2044+595_2044+596insCTTTCCTTTCCCTTCCTTCCTTCCTTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FBRSL1_chr12_132485151_132590188	132539534	C C	CCCAGTTC others(21): Show CCCAGTTCTGCCCTCCAGCCCCGTGCCCA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0016 a0001c0003t0004g0016	1	348	0.0029	28	c.616 others(45): Show c.616-8464_616-8463insTCTGCCCTCCAGCCCCGTGCCCACCAGT	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132578341	T T	TCACACAC others(21): Show TCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0133 a0002c0004t0001g0133	1	348	0.0029	28	c.183 others(47): Show c.1834+1411_1834+1412insACACACACACACACACACACACACAC AC	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132578343	T T	TCACACAC others(21): Show TCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01256.hp2 HG01258.hp1 others(5): Show HG00438.hp1 HG01256.hp2 HG01258.hp1 HG01515.hp1 HG02135.hp2 HG02735.hp2 HG03139.hp1 HG03654.hp1	a0000 a0001 a0003 others(1): Show a0000 a0001 a0003 a0010	a0000c0014 a0000c0036 a0000c0067 others(3): Show a0000c0014 a0000c0036 a0000c0067 a0001c0003 a0003c0001 a0010c0065	a0000c0014t0003 a0000c0036t0001 a0000c0067t0013 others(5): Show a0000c0014t0003 a0000c0036t0001 a0000c0067t0013 a0001c0003t0003 a0001c0003t0013 a0001c0003t0020 a0003c0001t0003 a0010c0065t0020	a0000c0014t0003g0191 a0000c0036t0001g0138 a0000c0067t0013g0033 others(5): Show a0000c0014t0003g0191 a0000c0036t0001g0138 a0000c0067t0013g0033 a0001c0003t0003g0132 a0001c0003t0013g0054 a0001c0003t0020g0001 a0003c0001t0003g0222 a0010c0065t0020g0001	8	348	0.0230	28	c.183 others(47): Show c.1834+1436_1834+1437insCACACACACACACACACACACACACA CA	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132585338	A A	ATCTAGCC others(21): Show ATCTAGCCCGTGCCTCACCGATCCGACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0074 a0001c0005t0006g0074	1	348	0.0029	28	c.15 others(39): Show c.1560_*1561insTCTAGCCCGTGCCTCACCGATCCGACCC	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding		151		chr12	TogoVar
FBXL12_chr19_9805270_9824079	9820556	G G	GTATGTAT others(21): Show GTATGTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	338	0.0030	28	c.-17 others(39): Show c.-1744_-1743insTATATATATATATATATATATATACATA	FBXL12	ENSG00000127452.9	transcript	ENST00000247977.9	protein_coding		1478		chr19	TogoVar
FBXL13_chr7_102806189_103079796	102834032	T T	TGAAGGAA others(21): Show TGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0281 a0001c0002t0001g0281	1	328	0.0031	28	c.199 others(47): Show c.1990-1086_1990-1059dupCTTCCTTCCTTCCTTCCTTCCTTCCT TC	FBXL13	ENSG00000161040.19	transcript	ENST00000440067.4	protein_coding	18/20			chr7	TogoVar
FBXL14_chr12_1560993_1599581	1597512	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0312 a0001c0001t0009g0312	1	418	0.0024	28	c.-34 others(39): Show c.-3474_-3447dupTATATATATATATATATATATATATATA	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding		2932		chr12	TogoVar
FBXL17_chr5_107854035_108387098	107980664	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	244	0.0041	28	c.182 others(49): Show c.1822+40260_1822+40261insAAAATATATATATATATATATATA TATA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108009292	T T	TATAGATA others(21): Show TATAGATAGATAGATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0092 a0001c0001t0015g0092	1	244	0.0041	28	c.182 others(49): Show c.1822+11632_1822+11633insCTATCTATCTATCTATCTATCTAT CTAT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108009296	T T	TATAGATA others(21): Show TATAGATAGATAGATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0009 a0001c0001t0033g0009	1	244	0.0041	28	c.182 others(49): Show c.1822+11628_1822+11629insCTATCTATCTATCTATCTATCTAT CTAT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108009308	T T	TAGATAGA others(21): Show TAGATAGATAGATAGATAGATATACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	244	0.0041	28	c.182 others(49): Show c.1822+11616_1822+11617insGTGTGTATATCTATCTATCTATCT ATCT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108009308	T T	TATATAGA others(21): Show TATATAGATAGATAGATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	244	0.0041	28	c.182 others(49): Show c.1822+11616_1822+11617insGTGTGTATATATATCTATCTATCT ATAT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108106080	G G	GTGAGTAA others(21): Show GTGAGTAAACAAAAAAGCAATTGGTGTGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0192 a0001c0008t0001g0192	1	244	0.0041	28	c.174 others(49): Show c.1745+80036_1745+80037insTCACACCAATTGCTTTTTTGTTTA CTCA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	6/8			chr5	TogoVar

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