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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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
FAM9B_chrX_9019232_9039127	9022129	ACATTATG others(19): Show ACATTATGTATAATATATAATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01358.hp1 HG01517.hp2 HG00558.hp2 HG01358.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0033	3	258	0.0116	-26	c.32 others(37): Show c.3254_*3279delATATATATTATATATTATACATAATG	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		2102		chrX	TogoVar
FAM9B_chrX_9019232_9039127	9022235	TATATATT others(19): Show TATATATTATATTATGTATAATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18983.hp1 NA18985.hp1 NA18954.hp1 NA18983.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0002 a0001c0001t0008g0021 a0001c0001t0001g0002 a0001c0001t0008g0021	3	258	0.0116	-26	c.31 others(37): Show c.3148_*3173delTATATATTATACATAATATAATATAT	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		1996		chrX	TogoVar
FANCD2OS_chr3_10098937_10113255	10105759	AAAAAAAA others(19): Show AAAAAAAAAAAAATTATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0112 a0002c0002t0001g0112	1	346	0.0029	-26	c.-8- others(40): Show c.-8-1003_-8-978delATATATATATATAATTTTTTTTTTTT	FANCD2OS	ENSG00000163705.13	transcript	ENST00000450660.3	protein_coding	1/1			chr3	TogoVar
FANCD2OS_chr3_10098937_10113255	10105765	AAAAAAAT others(19): Show AAAAAAATTATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	346	0.0029	-26	c.-8- others(40): Show c.-8-1009_-8-984delATATATATATATATATATAATTTTTT	FANCD2OS	ENSG00000163705.13	transcript	ENST00000450660.3	protein_coding	1/1			chr3	TogoVar
FANCD2OS_chr3_10098937_10113255	10105767	AAAAATTA others(19): Show AAAAATTATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	346	0.0029	-26	c.-8- others(40): Show c.-8-1011_-8-986delATATATATATATATATATATAATTTT	FANCD2OS	ENSG00000163705.13	transcript	ENST00000450660.3	protein_coding	1/1			chr3	TogoVar
FANCD2OS_chr3_10098937_10113255	10108074	CCCGAGGG others(19): Show CCCGAGGGTCTGGAGCTGCCGAGAGTG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG00735.hp1 others(66): Show HG00408.hp1 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01081.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01981.hp2 HG02145.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG04115.hp2 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp2 NA18948.hp1 NA18953.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18978.hp2 NA18985.hp1 NA19056.hp2 NA19080.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0004 a0001c0001 a0002c0002 a0006c0004	a0001c0001t0002 a0001c0001t0007 a0002c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0007 a0002c0002t0002 a0006c0004t0002	a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0012 others(27): Show a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0007g0048 a0001c0001t0007g0118 a0001c0001t0007g0119 a0002c0002t0002g0049 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0125 a0002c0002t0002g0132 a0006c0004t0002g0126	69	346	0.1994	-26	c.-94 others(33): Show c.-94_-69delCACTCTCGGCAGCTCCAGACCCTCGG	FANCD2OS	ENSG00000163705.13	transcript	ENST00000450660.3	protein_coding	1/2	3301		chr3	TogoVar
FANCD2_chr3_10021437_10106932	10022516	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00741.hp2 HG01257.hp2 others(13): Show HG00408.hp1 HG00741.hp2 HG01257.hp2 HG01258.hp2 HG02523.hp2 HG02738.hp1 HG03654.hp2 HG04184.hp1 NA18940.hp1 NA18948.hp1 NA18953.hp1 NA18957.hp2 NA18978.hp2 NA18985.hp1 NA19056.hp1 NA19080.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0002c0012 a0011c0021 a0002c0002 a0002c0012 a0011c0021	a0002c0002t0002 a0002c0002t0005 a0002c0002t0009 others(2): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0009 a0002c0012t0005 a0011c0021t0005	a0002c0002t0002g0214 a0002c0002t0002g0232 a0002c0002t0005g0177 others(13): Show a0002c0002t0002g0214 a0002c0002t0002g0232 a0002c0002t0005g0177 a0002c0002t0005g0181 a0002c0002t0005g0213 a0002c0002t0005g0215 a0002c0002t0005g0217 a0002c0002t0005g0218 a0002c0002t0005g0219 a0002c0002t0005g0230 a0002c0002t0005g0231 a0002c0002t0009g0180 a0002c0002t0009g0216 a0002c0012t0005g0193 a0002c0012t0005g0194 a0011c0021t0005g0182	16	242	0.0661	-26	c.-39 others(37): Show c.-3990_-3965delTGTGTGTGTGTGTGTGTGTGTGTGTA	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding		3920		chr3	TogoVar
FANCD2_chr3_10021437_10106932	10054345	ATATATAC others(19): Show ATATATACGTATATATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	242	0.0041	-26	c.165 others(45): Show c.1656+1856_1656+1881delGTATATATATATATACGTGTATATAC	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	18/43		INFO_REALIGN_3_PRIME	chr3	TogoVar
FANCD2_chr3_10021437_10106932	10105759	AAAAAAAA others(19): Show AAAAAAAAAAAAATTATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0129 a0001c0003t0002g0129	1	242	0.0041	-26	c.44 others(37): Show c.4498_*4523delAAAAAAAAAAAATTATATATATATAT	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding		3828		chr3	TogoVar
FANCD2_chr3_10021437_10106932	10105765	AAAAAAAT others(19): Show AAAAAAATTATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0221 a0006c0006t0002g0221	1	242	0.0041	-26	c.45 others(37): Show c.4504_*4529delAAAAAATTATATATATATATATATAT	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding		3834		chr3	TogoVar
FANCD2_chr3_10021437_10106932	10105767	AAAAATTA others(19): Show AAAAATTATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0014 a0006c0006t0014	a0006c0006t0014g0222 a0006c0006t0014g0222	1	242	0.0041	-26	c.45 others(37): Show c.4506_*4531delAAAATTATATATATATATATATATAT	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding		3836		chr3	TogoVar
FANCF_chr11_22617533_22630823	22624099	AAGGGACA others(19): Show AAGGGACATACTATGTGGTGATTCATT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0000 a0001c0001t0018g0000	1	420	0.0024	-26	c.56 others(35): Show c.561_*586delAATGAATCACCACATAGTATGTCCCT	FANCF	ENSG00000183161.6	transcript	ENST00000327470.6	protein_coding	1/1	561		chr11	TogoVar
FANCL_chr2_58154247_58246325	58217193	TATATATA others(19): Show TATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01981.hp2 others(6): Show HG00280.hp1 HG01070.hp1 HG01981.hp2 HG02615.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp1 HG03098.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 others(6): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0125	9	390	0.0231	-26	c.374 others(43): Show c.374+4723_374+4748delGTGTATATATATATATATATATATAT	FANCL	ENSG00000115392.13	transcript	ENST00000233741.9	protein_coding	5/13			chr2	TogoVar
FANCL_chr2_58154247_58246325	58217195	TATATATA others(19): Show TATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG01975.hp1 others(12): Show HG00099.hp2 HG00438.hp1 HG01975.hp1 HG02056.hp2 HG02273.hp2 HG02698.hp1 HG02735.hp1 HG04184.hp2 NA18941.hp1 NA18971.hp2 NA18975.hp1 NA18988.hp1 NA18994.hp1 NA19063.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0050 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0126 a0001c0001t0001g0127	15	390	0.0385	-26	c.374 others(43): Show c.374+4721_374+4746delGTGTGTATATATATATATATATATAT	FANCL	ENSG00000115392.13	transcript	ENST00000233741.9	protein_coding	5/13			chr2	TogoVar
FANCL_chr2_58154247_58246325	58217197	TATATATA others(19): Show TATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0232 a0001c0002t0001g0232	1	390	0.0026	-26	c.374 others(43): Show c.374+4719_374+4744delGTGTGTGTATATATATATATATATAT	FANCL	ENSG00000115392.13	transcript	ENST00000233741.9	protein_coding	5/13			chr2	TogoVar
FANCL_chr2_58154247_58246325	58217199	TATATATA others(19): Show TATATATATATATATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	390	0.0026	-26	c.374 others(43): Show c.374+4717_374+4742delGTGTGTGTGTATATATATATATATAT	FANCL	ENSG00000115392.13	transcript	ENST00000233741.9	protein_coding	5/13			chr2	TogoVar
FANCL_chr2_58154247_58246325	58217203	TATATATA others(19): Show TATATATATATATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	390	0.0026	-26	c.374 others(43): Show c.374+4713_374+4738delGTGTGTGTGTGTGTATATATATATAT	FANCL	ENSG00000115392.13	transcript	ENST00000233741.9	protein_coding	5/13			chr2	TogoVar
FANCM_chr14_45130930_45205890	45145959	TGAGGCAG others(19): Show TGAGGCAGGAGAATGGCGTGAACCCGG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02723.hp2 HG02886.hp2 others(3): Show HG02257.hp1 HG02723.hp2 HG02886.hp2 HG03453.hp1 HG06807.hp1 NA18906.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0146 a0002c0007t0003g0147 a0002c0007t0003g0148 others(3): Show a0002c0007t0003g0146 a0002c0007t0003g0147 a0002c0007t0003g0148 a0002c0007t0003g0149 a0002c0007t0003g0166 a0002c0007t0003g0171	6	238	0.0252	-26	c.760 others(43): Show c.760-2872_760-2847delAGGAGAATGGCGTGAACCCGGGAGGC	FANCM	ENSG00000187790.12	transcript	ENST00000267430.10	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
FANK1_chr10_125891564_126014592	125952800	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02622.hp1 HG02723.hp2 others(6): Show HG02258.hp1 HG02622.hp1 HG02723.hp2 HG02895.hp2 HG02896.hp2 HG02970.hp1 HG03195.hp1 HG03225.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(6): Show a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215	9	370	0.0243	-26	c.14- others(43): Show c.14-27326_14-27301delACACACACACACACACACACACACAC	FANK1	ENSG00000203780.12	transcript	ENST00000368693.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
FAR2_chr12_29144278_29340616	29286064	GACACACA others(19): Show GACACACACACACACACACACACACAT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18906.hp1 HG01884.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0210 a0001c0002t0005g0211 a0001c0002t0005g0210 a0001c0002t0005g0211	2	326	0.0061	-26	c.190 others(43): Show c.190-7222_190-7197delCACACACACACATACACACACACACA	FAR2	ENSG00000064763.12	transcript	ENST00000536681.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
FARP1_chr13_98138094_98460176	98295080	CACACACA others(19): Show CACACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01891.hp2 HG02055.hp2 others(23): Show HG01192.hp1 HG01891.hp2 HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02572.hp1 HG02647.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp2 HG03209.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG04199.hp2 HG04204.hp1 NA18992.hp2 NA19007.hp1 NA19043.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(13): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0020 a0001c0001t0022 a0001c0001t0028 a0001c0001t0073 a0001c0001t0075 a0001c0002t0001 a0001c0002t0006 a0001c0002t0009 a0001c0002t0017 a0001c0002t0027 a0001c0004t0008 a0001c0007t0061	a0001c0001t0002g0162 a0001c0001t0004g0011 a0001c0001t0004g0123 others(23): Show a0001c0001t0002g0162 a0001c0001t0004g0011 a0001c0001t0004g0123 a0001c0001t0004g0145 a0001c0001t0004g0204 a0001c0001t0005g0041 a0001c0001t0007g0002 a0001c0001t0007g0016 a0001c0001t0007g0125 a0001c0001t0020g0004 a0001c0001t0020g0005 a0001c0001t0022g0206 a0001c0001t0028g0215 a0001c0001t0073g0146 a0001c0001t0075g0051 a0001c0002t0001g0028 a0001c0002t0001g0049 a0001c0002t0001g0063 a0001c0002t0001g0156 a0001c0002t0006g0119 a0001c0002t0009g0193 a0001c0002t0017g0141 a0001c0002t0017g0143 a0001c0002t0027g0163 a0001c0004t0008g0107 a0001c0007t0061g0068	26	218	0.1193	-26	c.172 others(45): Show c.172-48680_172-48655delCACACACACACACACACACACACATA	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98295082	CACACACA others(19): Show CACACACACACACACACACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0076 a0001c0001t0014g0076	1	218	0.0046	-26	c.172 others(45): Show c.172-48678_172-48653delCACACACACACACACACACACATATA	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARS2_chr6_5256513_5776583	5341188	GATATATA others(19): Show GATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	170	0.0059	-26	c.-21 others(45): Show c.-21-27339_-21-27314delATATATATATATATATATATATATAT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FASTKD1_chr2_169523508_169578865	169561944	AAATTAAT others(19): Show AAATTAATTATTAATTTATTGTAAATT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp2 HG01496.hp2 others(3): Show HG00639.hp1 HG01175.hp2 HG01496.hp2 HG02080.hp1 NA18950.hp2 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0013 a0002c0002t0002 a0001c0001t0001 a0001c0001t0013 a0002c0002t0002	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0206 others(3): Show a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0206 a0001c0001t0001g0264 a0001c0001t0013g0379 a0002c0002t0002g0342	6	392	0.0153	-26	c.573 others(43): Show c.573-1185_573-1160delAATTTACAATAAATTAATAATTAATT	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding	4/14			chr2	TogoVar
FASTKD1_chr2_169523508_169578865	169561952	TATTAATT others(19): Show TATTAATTTATTGTAAATTAATTATTC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG03492.hp1 HG02027.hp2 HG03492.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0065 a0002c0003t0001g0083 a0002c0003t0001g0065 a0002c0003t0001g0083	2	392	0.0051	-26	c.573 others(43): Show c.573-1193_573-1168delGAATAATTAATTTACAATAAATTAAT	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding	4/14			chr2	TogoVar
FASTKD5_chr20_3141519_3164865	3158504	CGCTCTCT others(19): Show CGCTCTCTCGCCCAGGCTGGAGTGCAG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	414	0.0024	-26	c.-19 others(45): Show c.-191+1236_-191+1261delCTGCACTCCAGCCTGGGCGAGAGAGC	FASTKD5	ENSG00000215251.5	transcript	ENST00000380266.4	protein_coding	1/1			chr20	TogoVar
FAT1_chr4_186582794_186728856	186645366	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01074.hp1 HG01123.hp1 others(9): Show HG00323.hp2 HG01074.hp1 HG01123.hp1 HG01261.hp2 HG01516.hp2 HG02055.hp1 HG02451.hp2 HG02886.hp2 HG03453.hp2 NA18522.hp2 NA18980.hp2 NA20129.hp1	a0001 a0008 a0011 others(7): Show a0001 a0008 a0011 a0012 a0020 a0025 a0028 a0075 a0078 a0103	a0001c0001 a0008c0156 a0011c0008 others(7): Show a0001c0001 a0008c0156 a0011c0008 a0012c0014 a0020c0122 a0025c0022 a0028c0053 a0075c0126 a0078c0112 a0103c0116	a0001c0001t0002 a0008c0156t0011 a0011c0008t0001 others(9): Show a0001c0001t0002 a0008c0156t0011 a0011c0008t0001 a0011c0008t0003 a0012c0014t0004 a0020c0122t0025 a0025c0022t0029 a0025c0022t0054 a0028c0053t0021 a0075c0126t0039 a0078c0112t0041 a0103c0116t0014	a0001c0001t0002g0157 a0008c0156t0011g0017 a0011c0008t0001g0126 others(9): Show a0001c0001t0002g0157 a0008c0156t0011g0017 a0011c0008t0001g0126 a0011c0008t0003g0075 a0012c0014t0004g0273 a0020c0122t0025g0015 a0025c0022t0029g0023 a0025c0022t0054g0330 a0028c0053t0021g0336 a0075c0126t0039g0102 a0078c0112t0041g0108 a0103c0116t0014g0107	12	338	0.0355	-26	c.358 others(45): Show c.3581-5609_3581-5584delATATATATATATATATATATATATAT	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	3/26			chr4	TogoVar
FAT3_chr11_92219818_92901473	92623174	CTACATGT others(19): Show CTACATGTTGCTACATGTTGCTACATT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00741.hp1 HG00741.hp2 others(85): Show HG00673.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03927.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18940.hp2 NA18986.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19060.hp1 NA19065.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(37): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0019 a0020 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0045 a0046 a0047 a0048 a0049	a0001c0005 a0001c0006 a0001c0014 others(69): Show a0001c0005 a0001c0006 a0001c0014 a0001c0025 a0001c0035 a0001c0050 a0001c0051 a0001c0052 a0001c0053 a0001c0084 a0001c0086 a0002c0001 a0002c0013 a0003c0010 a0003c0011 a0003c0019 a0003c0020 a0003c0030 a0003c0032 a0003c0041 a0004c0009 a0004c0012 a0004c0046 a0004c0048 a0004c0049 a0004c0062 a0005c0004 a0006c0076 a0006c0077 a0006c0078 a0006c0079 a0007c0008 a0007c0038 a0007c0043 a0008c0021 a0008c0039 a0008c0044 a0009c0007 a0010c0072 a0010c0073 a0011c0022 a0011c0023 a0012c0064 a0012c0065 a0013c0074 a0014c0071 a0015c0075 a0016c0081 a0019c0083 a0020c0016 a0022c0018 a0023c0037 a0024c0042 a0025c0045 a0026c0040 a0027c0047 a0028c0033 a0029c0055 a0034c0024 a0035c0085 a0036c0034 a0037c0059 a0038c0058 a0039c0057 a0040c0056 a0041c0028 a0042c0061 a0045c0066 a0046c0067 a0047c0068 a0048c0069 a0049c0070	a0001c0005t0019 a0001c0005t0064 a0001c0005t0065 others(82): Show a0001c0005t0019 a0001c0005t0064 a0001c0005t0065 a0001c0006t0029 a0001c0006t0067 a0001c0014t0034 a0001c0014t0036 a0001c0025t0011 a0001c0035t0033 a0001c0050t0085 a0001c0051t0088 a0001c0052t0015 a0001c0053t0040 a0001c0084t0014 a0001c0086t0066 a0002c0001t0009 a0002c0001t0020 a0002c0001t0038 a0002c0001t0073 a0002c0013t0004 a0002c0013t0051 a0003c0010t0026 a0003c0010t0069 a0003c0011t0005 a0003c0011t0071 a0003c0019t0058 a0003c0020t0086 a0003c0030t0005 a0003c0032t0013 a0003c0041t0002 a0004c0009t0001 a0004c0012t0002 a0004c0012t0004 a0004c0046t0001 a0004c0048t0047 a0004c0049t0013 a0004c0062t0059 a0005c0004t0006 a0005c0004t0017 a0005c0004t0042 a0006c0076t0002 a0006c0077t0012 a0006c0078t0002 a0006c0079t0061 a0007c0008t0010 a0007c0038t0057 a0007c0043t0048 a0008c0021t0024 a0008c0039t0030 a0008c0044t0008 a0009c0007t0004 a0010c0072t0001 a0010c0073t0028 a0011c0022t0003 a0011c0023t0003 a0012c0064t0041 a0012c0065t0035 a0013c0074t0084 a0014c0071t0054 a0015c0075t0062 a0016c0081t0039 a0019c0083t0009 a0020c0016t0031 a0022c0018t0063 a0023c0037t0056 a0024c0042t0004 a0025c0045t0003 a0026c0040t0002 a0027c0047t0011 a0028c0033t0045 a0029c0055t0075 a0034c0024t0010 a0035c0085t0014 a0036c0034t0050 a0037c0059t0087 a0038c0058t0044 a0039c0057t0032 a0040c0056t0070 a0041c0028t0077 a0042c0061t0001 a0045c0066t0027 a0046c0067t0060 a0047c0068t0037 a0048c0069t0046 a0049c0070t0001	a0001c0005t0019g0089 a0001c0005t0064g0006 a0001c0005t0065g0004 others(85): Show a0001c0005t0019g0089 a0001c0005t0064g0006 a0001c0005t0065g0004 a0001c0006t0029g0045 a0001c0006t0067g0018 a0001c0014t0034g0062 a0001c0014t0036g0113 a0001c0025t0011g0076 a0001c0035t0033g0068 a0001c0050t0085g0022 a0001c0051t0088g0016 a0001c0052t0015g0027 a0001c0053t0040g0050 a0001c0084t0014g0107 a0001c0086t0066g0001 a0002c0001t0009g0105 a0002c0001t0020g0066 a0002c0001t0038g0032 a0002c0001t0073g0025 a0002c0013t0004g0059 a0002c0013t0051g0083 a0003c0010t0026g0048 a0003c0010t0069g0026 a0003c0011t0005g0053 a0003c0011t0071g0019 a0003c0019t0058g0110 a0003c0020t0086g0017 a0003c0030t0005g0095 a0003c0032t0013g0109 a0003c0041t0002g0073 a0004c0009t0001g0070 a0004c0009t0001g0098 a0004c0012t0002g0054 a0004c0012t0004g0044 a0004c0046t0001g0099 a0004c0048t0047g0055 a0004c0049t0013g0080 a0004c0062t0059g0118 a0005c0004t0006g0060 a0005c0004t0006g0087 a0005c0004t0006g0111 a0005c0004t0017g0058 a0005c0004t0042g0116 a0006c0076t0002g0061 a0006c0077t0012g0081 a0006c0078t0002g0065 a0006c0079t0061g0114 a0007c0008t0010g0067 a0007c0038t0057g0112 a0007c0043t0048g0035 a0008c0021t0024g0101 a0008c0039t0030g0104 a0008c0044t0008g0096 a0009c0007t0004g0091 a0010c0072t0001g0077 a0010c0073t0028g0052 a0011c0022t0003g0072 a0011c0023t0003g0092 a0012c0064t0041g0086 a0012c0065t0035g0069 a0013c0074t0084g0014 a0014c0071t0054g0064 a0015c0075t0062g0102 a0016c0081t0039g0042 a0019c0083t0009g0106 a0020c0016t0031g0036 a0022c0018t0063g0012 a0023c0037t0056g0100 a0024c0042t0004g0097 a0025c0045t0003g0078 a0026c0040t0002g0115 a0027c0047t0011g0063 a0028c0033t0045g0049 a0029c0055t0075g0023 a0034c0024t0010g0046 a0035c0085t0014g0108 a0036c0034t0050g0079 a0037c0059t0087g0015 a0038c0058t0044g0082 a0039c0057t0032g0094 a0040c0056t0070g0021 a0041c0028t0077g0005 a0042c0061t0001g0039 a0045c0066t0027g0057 a0046c0067t0060g0043 a0047c0068t0037g0085 a0048c0069t0046g0056 a0049c0070t0001g0031	88	118	0.7458	-26	c.360 others(47): Show c.3608-74209_3608-74184delTACATGTTGCTACATGTTGCTACA TT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	3/27			chr11	TogoVar
FBH1_chr10_5885243_5942593	5897370	AGAGGAGG others(19): Show AGAGGAGGTGGACACAGGGCTCCTGCG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA19077.hp1 HG04228.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0175 a0001c0002t0001g0254 a0001c0001t0002g0175 a0001c0002t0001g0254	2	344	0.0058	-26	c.2-5 others(39): Show c.2-5625_2-5600delCGGAGGAGGTGGACACAGGGCTCCTG	FBH1	ENSG00000134452.20	transcript	ENST00000362091.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
FBLL1_chr5_168524305_168535634	168524958	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02056.hp2 NA18973.hp2 HG02027.hp1 HG02056.hp2 NA18973.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0001 a0005c0006t0001 a0002c0002t0001 a0005c0006t0001	a0002c0002t0001g0000 a0005c0006t0001g0000 a0002c0002t0001g0000 a0005c0006t0001g0000	3	460	0.0065	-26	c.-45 others(37): Show c.-4546_-4521delTATATATATATATATATATTTTTTTT	FBLL1	ENSG00000188573.8	transcript	ENST00000338333.5	protein_coding		4346		chr5	TogoVar
FBLN1_chr22_45497883_45606135	45555248	CATATATA others(19): Show CATATATATATATATATAAAATGGAAT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18944.hp2 NA18964.hp1 others(5): Show HG02080.hp2 NA18944.hp2 NA18964.hp1 NA18968.hp1 NA18968.hp2 NA18986.hp2 NA18995.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0134 a0001c0001t0001g0144 others(5): Show a0001c0001t0001g0119 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0220 a0001c0001t0001g0231 a0001c0001t0001g0244 a0001c0001t0001g0293 a0001c0001t0001g0294	8	346	0.0231	-26	c.169 others(45): Show c.1697+4668_1697+4693delATATATATAAAATGGAATATATATAT	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBLN7_chr2_112133385_112193218	112160747	CGCACGCA others(19): Show CGCACGCACACACGCACGCACACGCAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01884.hp1 HG02056.hp1 others(4): Show HG00099.hp2 HG01884.hp1 HG02056.hp1 HG02129.hp2 NA18939.hp2 NA18955.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0207 a0001c0001t0001g0224 a0001c0001t0004g0069 others(4): Show a0001c0001t0001g0207 a0001c0001t0001g0224 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0005g0055	7	346	0.0202	-26	c.235 others(41): Show c.235+913_235+938delGCACGCACACACGCACGCACACGCAG	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	2/7			chr2	TogoVar
FBN1_chr15_48403313_48650709	48445182	ATGTATAT others(19): Show ATGTATATATATATACATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	288	0.0035	-26	c.591 others(43): Show c.5917+168_5917+193delCATATATATATGTATATATATATACA	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	48/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48469084	ATATATAT others(19): Show ATATATATATAAAATATAATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0011 a0005c0016t0011	a0005c0016t0011g0123 a0005c0016t0011g0123	1	288	0.0035	-26	c.446 others(43): Show c.4460-576_4460-551delAATATATATTATATTTTATATATATA	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	36/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48547721	TCACACAC others(19): Show TCACACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0253 a0001c0002t0018g0253	1	288	0.0035	-26	c.539 others(43): Show c.539-9939_539-9914delTGTGTGTGTGTGTGTGTGTGTGTGTG	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FBN2_chr5_128252909_128543245	128479968	CTCTCTCT others(19): Show CTCTCTCTCTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	236	0.0042	-26	c.629 others(45): Show c.629-15073_629-15048delTATATATATATATATATAGAGAGAGA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	5/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128479972	CTCTCTAT others(19): Show CTCTCTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA19065.hp1 HG01346.hp1 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0164 a0002c0002t0001g0168 a0001c0001t0001g0164 a0002c0002t0001g0168	2	236	0.0085	-26	c.629 others(45): Show c.629-15077_629-15052delTATATATATATATATATATATAGAGA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	5/64			chr5	TogoVar
FBXL13_chr7_102806189_103079796	102848555	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	328	0.0031	-26	c.198 others(45): Show c.1989+6196_1989+6221delTTTTTTTTTTTTTTTTTTTTTTTTTT	FBXL13	ENSG00000161040.19	transcript	ENST00000440067.4	protein_coding	18/20			chr7	TogoVar
FBXL13_chr7_102806189_103079796	103024135	AAGAGAGA others(19): Show AAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02109.hp2 HG02155.hp1 others(5): Show HG01106.hp2 HG02109.hp2 HG02155.hp1 HG02257.hp2 HG02523.hp1 HG02622.hp1 HG02922.hp2 HG03139.hp2	a0004 a0007 a0016 a0004 a0007 a0016	a0004c0005 a0007c0011 a0007c0024 others(1): Show a0004c0005 a0007c0011 a0007c0024 a0016c0018	a0004c0005t0001 a0007c0011t0005 a0007c0024t0012 others(1): Show a0004c0005t0001 a0007c0011t0005 a0007c0024t0012 a0016c0018t0001	a0004c0005t0001g0166 a0007c0011t0005g0318 a0007c0011t0005g0319 others(5): Show a0004c0005t0001g0166 a0007c0011t0005g0318 a0007c0011t0005g0319 a0007c0011t0005g0320 a0007c0011t0005g0321 a0007c0011t0005g0322 a0007c0024t0012g0323 a0016c0018t0001g0144	8	328	0.0244	-26	c.765 others(41): Show c.765+902_765+927delCTCTCTCTCTCTCTCTCTCTCTCTCT	FBXL13	ENSG00000161040.19	transcript	ENST00000440067.4	protein_coding	7/20			chr7	TogoVar
FBXL13_chr7_102806189_103079796	103060020	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp1 HG01175.hp2 others(2): Show HG00323.hp2 HG00741.hp1 HG01175.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0009 a0001c0002t0020 a0001c0002t0001 a0001c0002t0009 a0001c0002t0020	a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0122 others(2): Show a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0122 a0001c0002t0009g0094 a0001c0002t0020g0095	5	328	0.0152	-26	c.76- others(41): Show c.76-4299_76-4274delTATATATATATATATATATATATATA	FBXL13	ENSG00000161040.19	transcript	ENST00000440067.4	protein_coding	1/20			chr7	TogoVar
FBXL14_chr12_1560993_1599581	1597512	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0354 a0001c0001t0013g0354	1	418	0.0024	-26	c.-34 others(37): Show c.-3472_-3447delTATATATATATATATATATATATATA	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding		2932		chr12	TogoVar
FBXL17_chr5_107854035_108387098	107946255	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	244	0.0041	-26	c.182 others(47): Show c.1823-65102_1823-65077delTATATATATATATATATATATATA TA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108009194	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp1 others(121): Show HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG03130.hp2 HG03195.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp2 HG03704.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp2 NA18983.hp1 NA18986.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA19001.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011 a0001c0014 a0002c0003 a0002c0012 a0003c0005 a0004c0006 a0006c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0048 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0002t0006 a0001c0002t0013 a0001c0002t0019 a0001c0002t0029 a0001c0002t0049 a0001c0002t0060 a0001c0002t0061 a0001c0004t0063 a0001c0004t0065 a0001c0011t0004 a0001c0011t0020 a0001c0014t0003 a0002c0003t0001 a0002c0003t0003 a0002c0003t0005 a0002c0003t0010 a0002c0012t0028 a0003c0005t0003 a0003c0005t0015 a0003c0005t0059 a0004c0006t0051 a0006c0016t0024	a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0097 others(121): Show a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0207 a0001c0001t0001g0219 a0001c0001t0002g0091 a0001c0001t0002g0098 a0001c0001t0002g0134 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0165 a0001c0001t0002g0168 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0183 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0210 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0102 a0001c0001t0003g0119 a0001c0001t0003g0133 a0001c0001t0003g0137 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0164 a0001c0001t0004g0131 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0186 a0001c0001t0004g0191 a0001c0001t0005g0085 a0001c0001t0005g0099 a0001c0001t0005g0100 a0001c0001t0005g0128 a0001c0001t0005g0136 a0001c0001t0005g0145 a0001c0001t0008g0056 a0001c0001t0008g0060 a0001c0001t0008g0065 a0001c0001t0009g0047 a0001c0001t0009g0059 a0001c0001t0009g0061 a0001c0001t0010g0139 a0001c0001t0010g0155 a0001c0001t0010g0174 a0001c0001t0012g0049 a0001c0001t0012g0050 a0001c0001t0012g0053 a0001c0001t0014g0048 a0001c0001t0014g0052 a0001c0001t0014g0054 a0001c0001t0014g0063 a0001c0001t0015g0092 a0001c0001t0015g0127 a0001c0001t0020g0195 a0001c0001t0021g0166 a0001c0001t0021g0185 a0001c0001t0022g0028 a0001c0001t0025g0200 a0001c0001t0032g0018 a0001c0001t0033g0009 a0001c0001t0034g0023 a0001c0001t0037g0064 a0001c0001t0038g0062 a0001c0001t0040g0046 a0001c0001t0041g0055 a0001c0001t0048g0071 a0001c0001t0053g0135 a0001c0001t0054g0184 a0001c0001t0056g0129 a0001c0002t0006g0084 a0001c0002t0006g0159 a0001c0002t0006g0161 a0001c0002t0006g0175 a0001c0002t0006g0197 a0001c0002t0006g0198 a0001c0002t0006g0209 a0001c0002t0013g0032 a0001c0002t0019g0014 a0001c0002t0019g0019 a0001c0002t0029g0151 a0001c0002t0029g0154 a0001c0002t0049g0069 a0001c0002t0060g0217 a0001c0002t0061g0124 a0001c0004t0063g0242 a0001c0004t0065g0244 a0001c0011t0004g0226 a0001c0011t0020g0227 a0001c0014t0003g0081 a0002c0003t0001g0237 a0002c0003t0003g0230 a0002c0003t0005g0231 a0002c0003t0005g0232 a0002c0003t0010g0233 a0002c0012t0028g0228 a0002c0012t0028g0229 a0003c0005t0003g0224 a0003c0005t0003g0225 a0003c0005t0015g0222 a0003c0005t0015g0223 a0003c0005t0059g0220 a0004c0006t0051g0074 a0006c0016t0024g0066	124	244	0.5082	-26	c.182 others(47): Show c.1822+11705_1822+11730delATATATATATATATATATATATAT AT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108009259	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02486.hp1 HG02965.hp2 others(2): Show HG01192.hp1 HG02486.hp1 HG02965.hp2 HG03130.hp2 HG03579.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0014 a0002c0003 others(1): Show a0001c0001 a0001c0014 a0002c0003 a0003c0005	a0001c0001t0005 a0001c0014t0003 a0002c0003t0003 others(1): Show a0001c0001t0005 a0001c0014t0003 a0002c0003t0003 a0003c0005t0003	a0001c0001t0005g0099 a0001c0001t0005g0100 a0001c0014t0003g0081 others(2): Show a0001c0001t0005g0099 a0001c0001t0005g0100 a0001c0014t0003g0081 a0002c0003t0003g0230 a0003c0005t0003g0224	5	244	0.0205	-26	c.182 others(47): Show c.1822+11640_1822+11665delTATATATATATATATATATATATA AA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL7_chr5_15495180_15944793	15771724	CAAAACCA others(19): Show CAAAACCACAGCTATCTGGACTAATAG	C C	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	122	0.0082	-26	c.127 others(47): Show c.127+155655_127+155680delAACCACAGCTATCTGGACTAATAG AA	FBXL7	ENSG00000183580.10	transcript	ENST00000504595.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
FBXO10_chr9_37505892_37581380	37555057	TTTTGTTT others(19): Show TTTTGTTTGTTTTTTGCAGGGTCACAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp1 HG02451.hp1 others(15): Show HG01243.hp1 HG02280.hp1 HG02451.hp1 HG02572.hp1 HG02647.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0199 others(15): Show a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0005t0001g0013 a0001c0005t0001g0101 a0001c0005t0001g0115 a0001c0005t0001g0116 a0001c0005t0001g0126 a0001c0005t0001g0194 a0001c0005t0001g0195 a0001c0005t0001g0197 a0001c0005t0001g0198	18	290	0.0621	-26	c.-6- others(43): Show c.-6-13309_-6-13284delGTGTGACCCTGCAAAAAACAAACAAA	FBXO10	ENSG00000147912.13	transcript	ENST00000432825.7	protein_coding	1/10			chr9	TogoVar
FBXO11_chr2_47801920_47911498	47900809	CACACACG others(19): Show CACACACGTGTATATATATACACGTAT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG04228.hp1 NA18747.hp1 others(3): Show HG02080.hp1 HG04228.hp1 NA18747.hp1 NA18953.hp1 NA18957.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0174 a0001c0001t0002g0134 a0001c0001t0002g0157 others(3): Show a0001c0001t0001g0174 a0001c0001t0002g0134 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0180	6	318	0.0189	-26	c.232 others(43): Show c.232+4654_232+4679delATACGTGTATATATATACACGTGTGT	FBXO11	ENSG00000138081.22	transcript	ENST00000403359.8	protein_coding	1/22			chr2	TogoVar
FBXO17_chr19_38936401_38980742	38954890	GTTATTTT others(19): Show GTTATTTTATTATTATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0229 a0001c0006t0003g0229	1	398	0.0025	-26	c.-17 others(43): Show c.-17-4580_-17-4555delTAATAATAATAATAATAATAAAATAA	FBXO17	ENSG00000269190.6	transcript	ENST00000292852.9	protein_coding	1/5			chr19	TogoVar
FBXO25_chr8_401958_482967	478601	GAAAGCTA others(19): Show GAAAGCTAAAACTCTACCCCTTTATCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01168.hp2 others(17): Show HG01069.hp2 HG01071.hp2 HG01168.hp2 HG01169.hp1 HG01496.hp2 HG02109.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03704.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 others(6): Show a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0028 a0001c0001t0054 a0001c0001t0069 a0001c0001t0131 a0002c0002t0016 a0003c0003t0133	a0001c0001t0014g0029 a0001c0001t0014g0289 a0001c0001t0014g0290 others(14): Show a0001c0001t0014g0029 a0001c0001t0014g0289 a0001c0001t0014g0290 a0001c0001t0014g0291 a0001c0001t0015g0037 a0001c0001t0015g0355 a0001c0001t0015g0356 a0001c0001t0016g0030 a0001c0001t0016g0295 a0001c0001t0028g0338 a0001c0001t0028g0339 a0001c0001t0028g0340 a0001c0001t0054g0293 a0001c0001t0069g0329 a0001c0001t0131g0323 a0002c0002t0016g0179 a0003c0003t0133g0299	20	412	0.0485	-26	c.97 others(37): Show c.9798_*9823delAAAGCTAAAACTCTACCCCTTTATCA	FBXO25	ENSG00000147364.17	transcript	ENST00000350302.8	protein_coding		635		chr8	TogoVar
FBXO27_chr19_39019021_39037549	39019424	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA19240.hp2 NA18941.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0090 a0001c0001t0002g0056 a0001c0001t0001g0090 a0001c0001t0002g0056	2	424	0.0047	-26	c.59 others(37): Show c.5961_*5986delTTTTTTTTTTTTTTTTTTTTTTTTTT	FBXO27	ENSG00000161243.10	transcript	ENST00000292853.9	protein_coding		4596		chr19	TogoVar

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