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
FBXO34_chr14_55266421_55358611	55296382	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 NA19085.hp1 NA19240.hp2 HG02897.hp1 NA19085.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0031 a0002c0002t0002g0082 a0002c0002t0002g0085 a0002c0002t0002g0031 a0002c0002t0002g0082 a0002c0002t0002g0085	3	334	0.0090	17	c.-11 others(36): Show c.-11+24853_-11+24854insTTTTTTTTTTTTTTTTT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55323212	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0328 a0004c0004t0006g0328	1	334	0.0030	17	c.-10 others(36): Show c.-10-27169_-10-27168insTATATATATATATATAT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1			chr14	TogoVar
FBXO34_chr14_55266421_55358611	55323214	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0324 a0004c0004t0006g0324	1	334	0.0030	17	c.-10 others(36): Show c.-10-27167_-10-27166insTATATATATATATATAT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1			chr14	TogoVar
FBXO34_chr14_55266421_55358611	55323218	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0171 a0001c0001t0004g0171	1	334	0.0030	17	c.-10 others(36): Show c.-10-27162_-10-27161insATATATATATATATATA	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55323225	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0330 a0004c0004t0006g0330	1	334	0.0030	17	c.-10 others(36): Show c.-10-27155_-10-27154insATATATATATATATATT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55323226	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03579.hp1 HG03453.hp1 HG03579.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0004 a0004c0004t0006 a0001c0001t0004 a0004c0004t0006	a0001c0001t0004g0142 a0004c0004t0006g0332 a0001c0001t0004g0142 a0004c0004t0006g0332	2	334	0.0060	17	c.-10 others(36): Show c.-10-27155_-10-27154insATATATATATATATATA	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1			chr14	TogoVar
FBXO34_chr14_55266421_55358611	55338048	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02055.hp2 others(8): Show HG01070.hp1 HG01071.hp2 HG02055.hp2 HG02273.hp1 HG02735.hp1 NA18942.hp2 NA18957.hp2 NA18993.hp2 NA19056.hp2 NA19057.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0225 others(8): Show a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0225 a0001c0001t0001g0244 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0269 a0001c0001t0001g0277 a0001c0001t0001g0278	11	334	0.0329	17	c.-10 others(36): Show c.-10-12330_-10-12314dupTTTTTTTTTTTTTTTTT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO3_chr11_33735944_33779520	33757656	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG01099.hp1 others(33): Show HG00408.hp2 HG00621.hp1 HG01099.hp1 HG02015.hp2 HG02074.hp1 HG02155.hp2 HG02165.hp1 HG02735.hp1 HG02886.hp1 HG03209.hp2 HG03239.hp2 HG03834.hp1 HG03834.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18947.hp1 NA18947.hp2 NA18961.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp1 NA18978.hp1 NA18980.hp2 NA18982.hp2 NA18989.hp2 NA18990.hp1 NA19011.hp2 NA19030.hp2 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19080.hp1 NA19087.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0068 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0068 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0203 a0001c0001t0001g0220	36	382	0.0942	17	c.473 others(32): Show c.473+814_473+830dupTTTTTTTTTTTTTTTTT	FBXO3	ENSG00000110429.14	transcript	ENST00000265651.8	protein_coding	4/10			chr11	TogoVar
FBXO40_chr3_121588379_121635295	121635275	C C	CTCTCTCT others(10): Show CTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0267 a0002c0002t0001g0267	1	408	0.0025	17	c.83 others(28): Show c.8365_*8366insTCTCTCTCTCTCTCTCT	FBXO40	ENSG00000163833.8	transcript	ENST00000338040.6	protein_coding		4981		chr3	TogoVar
FBXO42_chr1_16241840_16357480	16283494	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02818.hp1 NA20129.hp2 others(1): Show HG02257.hp1 HG02818.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0002c0007 a0001c0001 a0002c0005 a0002c0007	a0001c0001t0017 a0002c0005t0005 a0002c0007t0005 a0001c0001t0017 a0002c0005t0005 a0002c0007t0005	a0001c0001t0017g0179 a0002c0005t0005g0274 a0002c0005t0005g0276 others(1): Show a0001c0001t0017g0179 a0002c0005t0005g0274 a0002c0005t0005g0276 a0002c0007t0005g0272	4	294	0.0136	17	c.502 others(36): Show c.502+11272_502+11288dupAAAAAAAAAAAAAAAAA	FBXO42	ENSG00000037637.11	transcript	ENST00000375592.8	protein_coding	4/9			chr1	TogoVar
FBXO42_chr1_16241840_16357480	16326014	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0262 a0002c0003t0012g0262	1	294	0.0034	17	c.-17 others(36): Show c.-17-10580_-17-10579insCACACACACACACACAC	FBXO42	ENSG00000037637.11	transcript	ENST00000375592.8	protein_coding	1/9			chr1	TogoVar
FBXO42_chr1_16241840_16357480	16337883	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0203	1	294	0.0034	17	c.-18 others(36): Show c.-18+14355_-18+14371dupTTTTTTTTTTTTTTTTT	FBXO42	ENSG00000037637.11	transcript	ENST00000375592.8	protein_coding	1/9			chr1	TogoVar
FBXO42_chr1_16241840_16357480	16350757	A A	AAAAAGAA others(10): Show AAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02055.hp1 HG03579.hp2 others(4): Show HG01952.hp2 HG02055.hp1 HG03579.hp2 NA18970.hp2 NA18973.hp2 NA18981.hp2 NA18992.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0003 a0002c0003t0004 a0001c0001t0002 a0002c0003t0003 a0002c0003t0004	a0001c0001t0002g0130 a0002c0003t0003g0033 a0002c0003t0003g0034 others(4): Show a0001c0001t0002g0130 a0002c0003t0003g0033 a0002c0003t0003g0034 a0002c0003t0003g0035 a0002c0003t0003g0036 a0002c0003t0003g0037 a0002c0003t0004g0057	7	294	0.0238	17	c.-18 others(34): Show c.-18+1497_-18+1498insCTTTCTTTCTTTCTTTT	FBXO42	ENSG00000037637.11	transcript	ENST00000375592.8	protein_coding	1/9			chr1	TogoVar
FBXO42_chr1_16241840_16357480	16350757	A A	AAGAAGAA others(10): Show AAGAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0004 a0002c0003t0003g0004	1	294	0.0034	17	c.-18 others(34): Show c.-18+1497_-18+1498insCTTTCTTTCTTTCTTCT	FBXO42	ENSG00000037637.11	transcript	ENST00000375592.8	protein_coding	1/9			chr1	TogoVar
FBXO42_chr1_16241840_16357480	16350757	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18979.hp1 NA18945.hp2 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0003 a0001c0001t0002 a0002c0003t0003	a0001c0001t0002g0089 a0002c0003t0003g0012 a0001c0001t0002g0089 a0002c0003t0003g0012	2	294	0.0068	17	c.-18 others(34): Show c.-18+1497_-18+1498insCTTTCTTTCTTTCTTTC	FBXO42	ENSG00000037637.11	transcript	ENST00000375592.8	protein_coding	1/9			chr1	TogoVar
FBXO47_chr17_38931432_38972403	38939317	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18980.hp1 NA18943.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0199 a0001c0001t0003g0226 a0001c0001t0003g0199 a0001c0001t0003g0226	2	344	0.0058	17	c.108 others(34): Show c.1084-586_1084-585insATATATATATATATATA	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	9/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38941620	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	344	0.0029	17	c.108 others(36): Show c.1083+1157_1083+1158insTATATATATATATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	9/10			chr17	TogoVar
FBXO5_chr6_152965535_152988041	152978377	T T	TGGGGGGG others(10): Show TGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	438	0.0023	17	c.104 others(34): Show c.104-2757_104-2756insCCCCCCCCCCCCCCCCC	FBXO5	ENSG00000112029.10	transcript	ENST00000229758.8	protein_coding	1/4			chr6	TogoVar
FBXO7_chr22_32469811_32503829	32500543	A A	AGTTTTTT others(10): Show AGTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00558.hp2 others(23): Show HG00140.hp1 HG00558.hp1 HG00558.hp2 HG01123.hp2 HG02040.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG03017.hp2 HG03710.hp1 NA18940.hp2 NA18950.hp2 NA18952.hp1 NA18960.hp2 NA18964.hp2 NA18967.hp1 NA18990.hp1 NA18994.hp2 NA19007.hp1 NA19009.hp2 NA19078.hp1 NA19082.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0001c0001t0001 a0001c0001t0002 a0001c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0018 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0002g0002 a0001c0007t0001g0018	26	414	0.0628	17	c.20 others(28): Show c.2013_*2014insGTTTTTTTTTTTTTTTT	FBXO7	ENSG00000100225.18	transcript	ENST00000266087.12	protein_coding		1715		chr22	TogoVar
FBXW11_chr5_171856549_172011638	171893421	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	158	0.0063	17	c.715 others(34): Show c.715-1834_715-1818dupTTTTTTTTTTTTTTTTT	FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	6/13			chr5	TogoVar
FBXW11_chr5_171856549_172011638	171923909	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0044 a0001c0003t0002g0044	1	158	0.0063	17	c.148 others(34): Show c.148-9521_148-9505dupAAAAAAAAAAAAAAAAA	FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	2/13			chr5	TogoVar
FBXW11_chr5_171856549_172011638	171952447	A A	ATATATAT others(10): Show ATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	158	0.0063	17	c.147 others(34): Show c.147+5149_147+5150insAAAAAAAAAAATATATA	FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	2/13			chr5	TogoVar
FBXW11_chr5_171856549_172011638	171952448	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG04115.hp1 NA18965.hp2 HG00597.hp2 HG04115.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0006 a0001c0001t0001g0068 a0001c0001t0001g0069	3	158	0.0190	17	c.147 others(34): Show c.147+5148_147+5149insTATATATATATATATAT	FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	2/13			chr5	TogoVar
FCHSD2_chr11_72831745_73147318	72959220	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	290	0.0035	17	c.705 others(36): Show c.705+24851_705+24867dupAAAAAAAAAAAAAAAAA	FCHSD2	ENSG00000137478.15	transcript	ENST00000409418.9	protein_coding	8/19			chr11	TogoVar
FCHSD2_chr11_72831745_73147318	73096987	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01884.hp1 HG02155.hp1 others(6): Show HG00438.hp2 HG01884.hp1 HG02155.hp1 HG02717.hp1 HG03098.hp2 NA18975.hp2 NA18994.hp2 NA19004.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0207 others(6): Show a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0267	9	290	0.0310	17	c.120 others(36): Show c.120-13264_120-13248dupAAAAAAAAAAAAAAAAA	FCHSD2	ENSG00000137478.15	transcript	ENST00000409418.9	protein_coding	2/19			chr11	TogoVar
FCHSD2_chr11_72831745_73147318	73126339	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01346.hp2 HG00741.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0012 a0001c0001t0001g0013	2	290	0.0069	17	c.119 others(36): Show c.119+13675_119+13691dupTTTTTTTTTTTTTTTTT	FCHSD2	ENSG00000137478.15	transcript	ENST00000409418.9	protein_coding	2/19			chr11	TogoVar
FCRLA_chr1_161702229_161719352	161705904	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02809.hp1 others(2): Show HG02258.hp1 HG02280.hp2 HG02809.hp1 HG02965.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0017 a0001c0001t0004g0023 a0001c0001t0001g0017 a0001c0001t0004g0023	5	472	0.0106	17	c.-13 others(28): Show c.-1361_-1360insTTTTTTTTTTTTTTTTT	FCRLA	ENSG00000132185.18	transcript	ENST00000236938.12	protein_coding		1324		chr1	TogoVar
FCSK_chr16_70449595_70485274	70454688	C C	CCCCTTGC others(10): Show CCCCTTGCGCCCCTTGCG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18980.hp1 NA18980.hp2 NA18961.hp2 NA18980.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199	3	356	0.0084	17	c.-23 others(30): Show c.-23+61_-23+62insTTGCGCCCCTTGCGCCC	FCSK	ENSG00000157353.17	transcript	ENST00000288078.11	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
FDFT1_chr8_11797741_11844298	11832551	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01257.hp1 HG01258.hp2 others(12): Show HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01433.hp2 HG01975.hp2 HG02027.hp1 HG02109.hp1 HG02148.hp1 HG02280.hp2 HG02486.hp1 HG03831.hp1 HG04184.hp2 HG04199.hp2 NA18956.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0018 a0001c0001 a0001c0005 a0001c0018	a0001c0001t0001 a0001c0001t0011 a0001c0005t0002 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0005t0002 a0001c0018t0001	a0001c0001t0001g0212 a0001c0001t0001g0283 a0001c0001t0001g0300 others(12): Show a0001c0001t0001g0212 a0001c0001t0001g0283 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0315 a0001c0001t0001g0323 a0001c0001t0001g0343 a0001c0001t0001g0358 a0001c0001t0001g0385 a0001c0001t0011g0044 a0001c0001t0011g0045 a0001c0005t0002g0160 a0001c0018t0001g0372	15	458	0.0328	17	c.103 others(34): Show c.1032+890_1032+906dupAAAAAAAAAAAAAAAAA	FDFT1	ENSG00000079459.14	transcript	ENST00000220584.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
FDFT1_chr8_11797741_11844298	11832576	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0362 a0001c0001t0001g0362	1	458	0.0022	17	c.103 others(34): Show c.1032+906_1032+907insAAAAAAAAAAAAAAAAG	FDFT1	ENSG00000079459.14	transcript	ENST00000220584.9	protein_coding	7/7			chr8	TogoVar
FDFT1_chr8_11797741_11844298	11835971	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	458	0.0022	17	c.103 others(36): Show c.1033-2409_1033-2393dupAAAAAAAAAAAAAAAAA	FDFT1	ENSG00000079459.14	transcript	ENST00000220584.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
FDX1_chr11_110424948_110469884	110434334	A A	ATTTGCTT others(10): Show ATTTGCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03710.hp1 HG03654.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	2	400	0.0050	17	c.186 others(34): Show c.186-1497_186-1496insGCTTTTTTTTTTTTTTT	FDX1	ENSG00000137714.3	transcript	ENST00000260270.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
FDX2_chr19_10305045_10321015	10313671	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA19085.hp1 NA18985.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0184 a0001c0002t0001g0185	2	444	0.0045	17	c.307 others(34): Show c.307+1714_307+1715insATATATATATATATATA	FDX2	ENSG00000267673.7	transcript	ENST00000393708.3	protein_coding	3/4			chr19	TogoVar
FDX2_chr19_10305045_10321015	10313671	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0179 a0001c0002t0001g0179	1	444	0.0023	17	c.307 others(34): Show c.307+1714_307+1715insAAATATATATATATATA	FDX2	ENSG00000267673.7	transcript	ENST00000393708.3	protein_coding	3/4			chr19	TogoVar
FDX2_chr19_10305045_10321015	10313672	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp1 HG01516.hp2 others(2): Show HG00639.hp1 HG01175.hp1 HG01516.hp2 HG03486.hp1 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0192 a0001c0002t0001g0205 a0001c0002t0001g0207 others(2): Show a0001c0002t0001g0192 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0215 a0001c0002t0002g0206	5	444	0.0113	17	c.307 others(34): Show c.307+1713_307+1714insTATATATATATATATAT	FDX2	ENSG00000267673.7	transcript	ENST00000393708.3	protein_coding	3/4			chr19	TogoVar
FECH_chr18_57539377_57591702	57542072	C C	CTCAGGCT others(10): Show CTCAGGCTCTCTGAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0281 a0001c0002t0002g0281	1	422	0.0024	17	c.86 others(28): Show c.8639_*8640insCTTTTCAGAGAGCCTGA	FECH	ENSG00000066926.13	transcript	ENST00000262093.11	protein_coding		2304		chr18	TogoVar
FEM1A_chr19_4786734_4806273	4799904	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp2 HG01069.hp2 HG01074.hp1 others(12): Show HG00642.hp2 HG01069.hp2 HG01074.hp1 HG01175.hp1 HG01517.hp2 HG01928.hp2 HG01975.hp1 HG02723.hp1 HG02735.hp1 HG02896.hp2 HG03516.hp2 HG03704.hp1 NA18992.hp1 NA18994.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0023 a0001c0001t0040 a0001c0001t0092 others(9): Show a0001c0001t0023 a0001c0001t0040 a0001c0001t0092 a0001c0001t0153 a0001c0001t0163 a0001c0001t0170 a0001c0001t0172 a0001c0001t0229 a0001c0001t0240 a0001c0001t0262 a0001c0002t0252 a0001c0002t0283	a0001c0001t0023g0000 a0001c0001t0040g0000 a0001c0001t0092g0000 others(9): Show a0001c0001t0023g0000 a0001c0001t0040g0000 a0001c0001t0092g0000 a0001c0001t0153g0000 a0001c0001t0163g0000 a0001c0001t0170g0000 a0001c0001t0172g0000 a0001c0001t0229g0000 a0001c0001t0240g0000 a0001c0001t0262g0000 a0001c0002t0252g0000 a0001c0002t0283g0000	15	430	0.0349	17	c.60 others(28): Show c.6053_*6069dupAAAAAAAAAAAAAAAAA	FEM1A	ENSG00000141965.5	transcript	ENST00000269856.5	protein_coding	1/1	6070	INFO_REALIGN_3_PRIME	chr19	TogoVar
FER1L5_chr2_96637764_96709883	96671106	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02155.hp2 HG02615.hp2 others(14): Show HG01891.hp1 HG02155.hp2 HG02615.hp2 HG02886.hp2 HG03098.hp1 HG03540.hp1 HG04184.hp2 NA18942.hp1 NA18945.hp1 NA18981.hp2 NA18982.hp2 NA19030.hp2 NA19070.hp2 NA19077.hp1 NA19080.hp1 NA19085.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0023 a0002c0001 a0002c0006	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(3): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0023t0001 a0002c0001t0001 a0002c0006t0001	a0001c0002t0001g0008 a0001c0003t0001g0005 a0001c0003t0001g0022 others(14): Show a0001c0002t0001g0008 a0001c0003t0001g0005 a0001c0003t0001g0022 a0001c0003t0001g0078 a0001c0003t0001g0179 a0001c0003t0001g0186 a0001c0004t0001g0011 a0001c0004t0001g0013 a0001c0004t0001g0014 a0001c0004t0001g0021 a0001c0004t0001g0033 a0001c0004t0001g0035 a0001c0004t0001g0053 a0001c0023t0001g0064 a0002c0001t0001g0025 a0002c0001t0001g0027 a0002c0006t0001g0031	17	226	0.0752	17	c.149 others(34): Show c.1491+865_1491+881dupAAAAAAAAAAAAAAAAA	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	18/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FERD3L_chr7_19139782_19150421	19147794	T T	TTCTTTCT others(10): Show TTCTTTCTTTCTTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	470	0.0021	17	c.-24 others(28): Show c.-2433_-2432insGAAGAAAGAAAGAAAGA	FERD3L	ENSG00000146618.3	transcript	ENST00000275461.3	protein_coding		2374		chr7	TogoVar
FERMT2_chr14_52852273_52956050	52861357	C C	CTACATCG others(10): Show CTACATCGTGTACCCAGT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0086 a0003c0014t0001g0086	1	288	0.0035	17	c.160 others(34): Show c.1603-909_1603-893dupACTGGGTACACGATGTA	FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	12/14			chr14	TogoVar
FERMT2_chr14_52852273_52956050	52902868	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG01069.hp1 others(18): Show HG00323.hp2 HG00558.hp1 HG01069.hp1 HG01258.hp2 HG02071.hp2 HG02698.hp1 HG02965.hp2 HG03195.hp2 HG03491.hp1 HG03492.hp2 HG04204.hp1 NA18956.hp1 NA18968.hp1 NA18969.hp2 NA18990.hp2 NA19000.hp2 NA19001.hp1 NA19011.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0002 a0001c0007t0012 a0001c0001t0001 a0001c0002t0002 a0001c0007t0012	a0001c0001t0001g0052 a0001c0001t0001g0105 a0001c0001t0001g0132 others(18): Show a0001c0001t0001g0052 a0001c0001t0001g0105 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0195 a0001c0001t0001g0227 a0001c0001t0001g0252 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0282 a0001c0002t0002g0005 a0001c0007t0012g0216	21	288	0.0729	17	c.392 others(34): Show c.392-9458_392-9442dupTTTTTTTTTTTTTTTTT	FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	3/14			chr14	TogoVar
FERMT2_chr14_52852273_52956050	52902892	C C	CAAACAAA others(10): Show CAAACAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA20752.hp2 HG01515.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0153 a0001c0001t0001g0129 a0001c0001t0001g0153	2	288	0.0069	17	c.392 others(34): Show c.392-9466_392-9465insTTTTTTTTTTTTTGTTT	FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	3/14			chr14	TogoVar
FERMT2_chr14_52852273_52956050	52927592	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02723.hp1 HG01258.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0083 a0001c0001t0001g0090	2	288	0.0069	17	c.158 others(34): Show c.158-8253_158-8237dupTTTTTTTTTTTTTTTTT	FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	2/14			chr14	TogoVar
FER_chr5_108742897_109201841	108879701	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp1 HG01891.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0009 a0001c0001t0001 a0001c0004t0009	a0001c0001t0001g0106 a0001c0004t0009g0117 a0001c0001t0001g0106 a0001c0004t0009g0117	2	138	0.0145	17	c.924 others(34): Show c.924-3694_924-3693insATATATATATATATATA	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	108927252	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03139.hp2 NA18979.hp2 HG02976.hp1 HG03139.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0004 a0001c0001t0043 a0001c0008t0012 a0001c0001t0004 a0001c0001t0043 a0001c0008t0012	a0001c0001t0004g0040 a0001c0001t0043g0045 a0001c0008t0012g0094 a0001c0001t0004g0040 a0001c0001t0043g0045 a0001c0008t0012g0094	3	138	0.0217	17	c.123 others(38): Show c.1237-18875_1237-18859dupTTTTTTTTTTTTTTTTT	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	109139350	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0083 a0001c0004t0023g0083	1	138	0.0073	17	c.204 others(38): Show c.2048+38833_2048+38849dupTTTTTTTTTTTTTTTTT	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FEZ1_chr11_125437881_125501265	125449441	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0325 a0001c0001t0003g0325	1	356	0.0028	17	c.109 others(34): Show c.1097-875_1097-874insCTTTTTTTTTTTTTTTT	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	8/9			chr11	TogoVar
FEZ1_chr11_125437881_125501265	125485159	T T	TCATTATG others(10): Show TCATTATGCTGCCATGAC	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	356	0.0028	17	c.312 others(34): Show c.312-3543_312-3527dupGTCATGGCAGCATAATG	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	2/9			chr11	TogoVar
FEZ1_chr11_125437881_125501265	125485978	C C	CATTAATG others(10): Show CATTAATGCGTTTGCTCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	356	0.0028	17	c.311 others(34): Show c.311+3472_311+3488dupTGAGCAAACGCATTAAT	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	2/9			chr11	TogoVar
FFAR4_chr10_93561665_93595072	93585225	T T	TCACTGCC others(10): Show TCACTGCCAGCCCTGCTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00544.hp2 others(26): Show HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00621.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01361.hp1 HG01952.hp1 HG02155.hp2 HG03225.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp1 NA18747.hp2 NA18944.hp2 NA18952.hp2 NA18959.hp1 NA18967.hp1 NA18978.hp2 NA18985.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA19007.hp1 NA19012.hp1 NA19074.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0004 a0005c0007 a0001c0001 a0004c0004 a0005c0007	a0001c0001t0002 a0001c0001t0018 a0004c0004t0002 others(2): Show a0001c0001t0002 a0001c0001t0018 a0004c0004t0002 a0004c0004t0020 a0005c0007t0019	a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0027 others(16): Show a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0027 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0107 a0001c0001t0002g0127 a0001c0001t0002g0132 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0152 a0001c0001t0002g0200 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0018g0222 a0004c0004t0002g0206 a0004c0004t0020g0137 a0005c0007t0019g0168	29	394	0.0736	17	c.697 others(34): Show c.697-1994_697-1978dupCACTGCCAGCCCTGCTC	FFAR4	ENSG00000186188.11	transcript	ENST00000371481.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr10	TogoVar

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