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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
FBXO34_chr14_55266421_55358611	55323225	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0322 a0001c0001t0007g0322	1	334	0.0030	37	c.-10 others(56): Show c.-10-27155_-10-27154insATATATATATATATATATATATATAT ATATTTTTTTT		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(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0317 a0001c0001t0007g0317	1	334	0.0030	37	c.-10 others(56): Show c.-10-27155_-10-27154insATATATATATATATATATATATATAT ATTTTTTTTTT		FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55338048	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0143	1	334	0.0030	37	c.-10 others(56): Show c.-10-12314_-10-12313insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO42_chr1_16241840_16357480	16350757	A A	AGAAAGAA others(30): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	294	0.0034	37	c.-18 others(54): Show c.-18+1497_-18+1498insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTC		FBXO42	ENSG00000037637.11	transcript	ENST00000375592.8	protein_coding	1/9						chr1	TogoVar
FBXW10B_chr17_15578886_15624704	15608238	G G	GCAACCTC others(30): Show GCAACCTCCGCCCTCCTGGGTTCAAGTGATTCTCCTGC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0279 a0006c0006t0003g0279	1	452	0.0022	37	c.112 others(54): Show c.1123-592_1123-556dupGCAGGAGAATCACTTGAACCCAGGAGGG CGGAGGTTG		FBXW10B	ENSG00000241322.11	transcript	ENST00000395906.8	protein_coding	5/11						chr17	TogoVar
FBXW11_chr5_171856549_172011638	171952447	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02738.hp1 HG02698.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0029 a0001c0001t0001g0003 a0001c0001t0001g0029	2	158	0.0127	37	c.147 others(54): Show c.147+5149_147+5150insAAAAAAAAAAAAATATATATATATATAT ATATATATA		FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	2/13						chr5	TogoVar
FERMT2_chr14_52852273_52956050	52902868	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0116 a0001c0002t0002g0116	1	288	0.0035	37	c.392 others(54): Show c.392-9442_392-9441insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	3/14						chr14	TogoVar
FER_chr5_108742897_109201841	109146253	A A	AATATATA others(30): Show AATATATATATATTATCTATCTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0005 a0004c0012t0005	a0004c0012t0005g0014 a0004c0012t0005g0014	1	138	0.0073	37	c.204 others(58): Show c.2049-34482_2049-34481insTATCTATCTATATATATATATATA TATATATATATAT		FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	17/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
FGD4_chr12_32394558_32651050	32422288	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0221 a0002c0002t0012g0221	1	232	0.0043	37	c.166 others(56): Show c.166+22357_166+22358insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		FGD4	ENSG00000139132.16	transcript	ENST00000534526.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
FGF12_chr3_192134390_192732541	192158662	T T	TTCCCTCC others(30): Show TTCCCTCCCCCCCTTCCTTCTTTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0014 a0001c0001t0010g0014	1	90	0.0111	37	c.427 others(56): Show c.427+11795_427+11796insGGGAAGGAAGGAAGGAAAGAAGGAAG GGGGGGAGGGA		FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	5/5						chr3	TogoVar
FGF18_chr5_171414647_171462626	171461605	T T	TTTTCTTT others(30): Show TTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	388	0.0026	37	c.48 others(48): Show c.4800_*4801insTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC		FGF18	ENSG00000156427.8	transcript	ENST00000274625.6	protein_coding					3980		chr5	TogoVar
FGF18_chr5_171414647_171462626	171461629	C C	CTTTCTTT others(30): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG01257.hp2 others(6): Show HG00423.hp1 HG00639.hp2 HG01257.hp2 HG02071.hp1 HG02155.hp1 HG06807.hp1 NA18943.hp1 NA18967.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0061 a0001c0001t0001g0092 a0001c0001t0001g0099 others(6): Show a0001c0001t0001g0061 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0247 a0001c0001t0001g0273 a0001c0001t0001g0291 a0001c0001t0001g0305 a0001c0001t0001g0347 a0001c0001t0002g0135	9	388	0.0232	37	c.48 others(48): Show c.4824_*4825insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCT		FGF18	ENSG00000156427.8	transcript	ENST00000274625.6	protein_coding					4004		chr5	TogoVar
FGF18_chr5_171414647_171462626	171461632	T T	TCTTTCTT others(30): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0340 a0001c0002t0001g0340	1	388	0.0026	37	c.48 others(48): Show c.4827_*4828insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC		FGF18	ENSG00000156427.8	transcript	ENST00000274625.6	protein_coding					4007		chr5	TogoVar
FGF21_chr19_48750524_48763330	48755187	A A	ACCCTCCT others(30): Show ACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	456	0.0022	37	c.-94 others(46): Show c.-944_-943insCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCCA C		FGF21	ENSG00000105550.10	transcript	ENST00000593756.6	protein_coding					336		chr19	TogoVar
FGF21_chr19_48750524_48763330	48757578	T T	TCCTGGGT others(30): Show TCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	456	0.0022	37	c.340 others(52): Show c.340-323_340-287dupGCCTGGACCCCTGGGTCTGAGGGAGGAGGG GCTGGGG		FGF21	ENSG00000105550.10	transcript	ENST00000593756.6	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
FGF21_chr19_48750524_48763330	48757634	G G	GGGGCTGG others(30): Show GGGGCTGGGGCCTGGAACCCCGGGTCTGAGGGAGGAGA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	456	0.0022	37	c.340 others(52): Show c.340-293_340-257dupGCTGGGGCCTGGAACCCCGGGTCTGAGGGA GGAGAGG		FGF21	ENSG00000105550.10	transcript	ENST00000593756.6	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
FGFR2_chr10_121473332_121603444	121584854	G G	GCACCACC others(30): Show GCACCACCCCAACCGATCCCATGACCCTCTCCATCCCA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0158 a0001c0001t0012g0158	1	240	0.0042	37	c.109 others(54): Show c.109+8854_109+8855insTGGGATGGAGAGGGTCATGGGATCGGTT GGGGTGGTG		FGFR2	ENSG00000066468.24	transcript	ENST00000358487.10	protein_coding	2/17						chr10	TogoVar
FHIT_chr3_59742277_61256452	60470045	C C	CCCCTCTC others(30): Show CCCCTCTCCTCTCTCTTTCTTTCTTTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0018 a0001c0001t0010g0018	1	46	0.0217	37	c.103 others(56): Show c.103+66814_103+66815insAGAGAGAGAGAGAAAGAAAGAAAGAG AGAGGAGAGGG		FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	5/9						chr3	TogoVar
FKBP2_chr11_64236095_64249132	64237126	G G	GAGAGAGA others(30): Show GAGAGAGAGAGAGAGACAGAGACAGACAGAGACAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	332	0.0030	37	c.-40 others(48): Show c.-4011_-4010insAGAGAGAGAGAGAGACAGAGACAGACAGAGACAG ACA		FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding					3968		chr11	TogoVar
FLNA_chrX_154343531_154379634	154361046	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0171 a0001c0002t0002g0171	1	279	0.0036	37	c.320 others(54): Show c.3207+261_3207+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	21/47						chrX	TogoVar
FLT1_chr13_28295346_28500128	28412350	C C	CTTTCTTT others(30): Show CTTTCTTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	228	0.0044	37	c.143 others(56): Show c.1437-6457_1437-6456insAAGAAAGAAAGAAAGAAAAAGAAAGA AAGAAAAGAAA		FLT1	ENSG00000102755.13	transcript	ENST00000282397.9	protein_coding	10/29						chr13	TogoVar
FLT1_chr13_28295346_28500128	28412350	C C	CTTTTCTT others(30): Show CTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	228	0.0044	37	c.143 others(56): Show c.1437-6457_1437-6456insAAGAAAGAAAGAAAGAAAAAGAAAGA AAGAAAGAAAA		FLT1	ENSG00000102755.13	transcript	ENST00000282397.9	protein_coding	10/29						chr13	TogoVar
FLT1_chr13_28295346_28500128	28453006	T T	TCCCCTCC others(30): Show TCCCCTCCCCCTCTCCCTCCCCCTCCCTCTCCCCCCTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0051 a0001c0003t0001g0051	1	228	0.0044	37	c.388 others(56): Show c.388+13896_388+13897insGAGGGGGGAGAGGGAGGGGGAGGGAG AGGGGGAGGGG		FLT1	ENSG00000102755.13	transcript	ENST00000282397.9	protein_coding	3/29						chr13	TogoVar
FLVCR1_chr1_212853275_212904363	212860350	G G	GTTTTTTT others(30): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0105 a0003c0003t0105	a0003c0003t0105g0150 a0003c0003t0105g0150	1	368	0.0027	37	c.738 others(54): Show c.738+1178_738+1179insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		FLVCR1	ENSG00000162769.13	transcript	ENST00000366971.9	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN1_chr15_32760544_33199714	33048644	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0039 a0001c0015t0039	a0001c0015t0039g0046 a0001c0015t0039g0046	1	196	0.0051	37	c.216 others(58): Show c.2161+16312_2161+16313insGTTTTTGTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT		FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	6/20						chr15	TogoVar
FMN2_chr1_240086883_240480187	240271098	G G	GTTTTTTT others(30): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03540.hp1 HG02630.hp2 HG03540.hp1	a0003 a0008 a0003 a0008	a0003c0010 a0008c0055 a0003c0010 a0008c0055	a0003c0010t0001 a0008c0055t0001 a0003c0010t0001 a0008c0055t0001	a0003c0010t0001g0076 a0008c0055t0001g0079 a0003c0010t0001g0076 a0008c0055t0001g0079	2	174	0.0115	37	c.415 others(58): Show c.4153+13085_4153+13086insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT		FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	7/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
FN1_chr2_215355865_215441068	215401263	G G	GAAGGAAG others(30): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02280.hp1 HG02965.hp2 others(3): Show HG01168.hp1 HG02280.hp1 HG02965.hp2 HG03491.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0001c0011 a0006c0024 a0001c0002 a0001c0011 a0006c0024	a0001c0002t0001 a0001c0011t0001 a0006c0024t0001 a0001c0002t0001 a0001c0011t0001 a0006c0024t0001	a0001c0002t0001g0111 a0001c0002t0001g0122 a0001c0002t0001g0232 others(3): Show a0001c0002t0001g0111 a0001c0002t0001g0122 a0001c0002t0001g0232 a0001c0011t0001g0108 a0001c0011t0001g0109 a0006c0024t0001g0061	6	240	0.0250	37	c.325 others(56): Show c.3254-1913_3254-1912insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTT		FN1	ENSG00000115414.21	transcript	ENST00000354785.11	protein_coding	20/45						chr2	TogoVar
FN3K_chr17_82730615_82756196	82751592	G G	GCCCCCGC others(30): Show GCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0150 a0001c0001t0040g0150	1	402	0.0025	37	c.83 others(46): Show c.837_*838insCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCG C		FN3K	ENSG00000167363.14	transcript	ENST00000300784.8	protein_coding					397		chr17	TogoVar
FNDC11_chr20_63549159_63561695	63559719	C C	CAGGGTCA others(30): Show CAGGGTCAGATGGGAGTCAGTCAGAGTCAGGTGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	416	0.0024	37	c.30 others(48): Show c.3099_*3100insAGGGTCAGATGGGAGTCAGTCAGAGTCAGGTGGG AGG		FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding					3025		chr20	TogoVar
FNDC3A_chr13_48970912_49214779	49061656	T T	TCCCCTCC others(30): Show TCCCCTCCCCTCTCCCTTCCCCTCTCCCCTCCCCTCTC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	292	0.0034	37	c.100 others(56): Show c.100-13618_100-13617insTTCCCCTCTCCCCTCCCCTCTCCCCC TCCCCTCTCCC		FNDC3A	ENSG00000102531.16	transcript	ENST00000492622.6	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr13	TogoVar
FOCAD_chr9_20679259_21000950	20986266	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0248 a0002c0002t0001g0248	1	320	0.0031	37	c.472 others(50): Show c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		FOCAD	ENSG00000188352.13	transcript	ENST00000338382.11	protein_coding	39/43					INFO_REALIGN_3_PRIME	chr9	TogoVar
FOXI1_chr5_170100897_170114734	170105348	G G	GGAGAGGG others(30): Show GGAGAGGGGGGGGGGGGGGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 NA18997.hp1 NA19087.hp1 HG02965.hp1 NA18997.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0002 a0001c0002t0002g0004	3	412	0.0073	37	c.-61 others(46): Show c.-610_-609insGAGAGGGGGGGGGGGGGGAGAGAGAGAGAGAGAGAG A		FOXI1	ENSG00000168269.10	transcript	ENST00000306268.8	protein_coding					548		chr5	TogoVar
FOXI1_chr5_170100897_170114734	170105348	G G	GGAGAGGG others(30): Show GGAGAGGGGGGGGGGGGGGGGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	412	0.0024	37	c.-61 others(46): Show c.-610_-609insGAGAGGGGGGGGGGGGGGGGAGAGAGAGAGAGAGAG A		FOXI1	ENSG00000168269.10	transcript	ENST00000306268.8	protein_coding					548		chr5	TogoVar
FOXI1_chr5_170100897_170114734	170105368	G G	GAGAGAGA others(30): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 NA18951.hp1 HG01081.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	2	412	0.0049	37	c.-59 others(46): Show c.-590_-589insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG A		FOXI1	ENSG00000168269.10	transcript	ENST00000306268.8	protein_coding					528		chr5	TogoVar
FOXI1_chr5_170100897_170114734	170105370	G G	GAGAGAGA others(30): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 NA19063.hp1 NA19077.hp2 HG03654.hp1 NA19063.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0003t0005 a0001c0001t0001 a0001c0001t0006 a0001c0003t0005	a0001c0001t0001g0001 a0001c0001t0006g0005 a0001c0003t0005g0007 a0001c0001t0001g0001 a0001c0001t0006g0005 a0001c0003t0005g0007	3	412	0.0073	37	c.-58 others(46): Show c.-588_-587insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG A		FOXI1	ENSG00000168269.10	transcript	ENST00000306268.8	protein_coding					526		chr5	TogoVar
FOXN3_chr14_89151177_89422233	89192585	G G	GTAATATA others(30): Show GTAATATAAACTATATAATATAAGCTATATAAACTATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02602.hp2 HG01109.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0045 a0001c0001t0017 a0001c0001t0045	a0001c0001t0017g0037 a0001c0001t0045g0030 a0001c0001t0017g0037 a0001c0001t0045g0030	2	230	0.0087	37	c.746 others(56): Show c.746-11816_746-11780dupTATAGTTTATATAGCTTATATTATAT AGTTTATATTA		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	4/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89312284	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	230	0.0044	37	c.681 others(56): Show c.681-31271_681-31270insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	3/5						chr14	TogoVar
FOXP1_chr3_70949708_71588728	70974969	A A	AAAAAAAA others(30): Show AAAAAAAAGATGTGTAAGCTCTTTTCAGTCATAACCTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0013 a0001c0001t0038g0013	1	96	0.0104	37	c.153 others(56): Show c.1530+1935_1530+1971dupAAGGTTATGACTGAAAAGAGCTTACA CATCTTTTTTT		FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	17/20						chr3	TogoVar
FRMD1_chr6_168048095_168084212	168078550	A A	ACCCCCAC others(30): Show ACCCCCACGGCTCTGCTCACCCTCACAGCCCTGCTCAC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0060 a0001c0005t0005g0060	1	402	0.0025	37	c.213 others(52): Show c.213+295_213+331dupGTGAGCAGGGCTGTGAGGGTGAGCAGAGCC GTGGGGG		FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10						chr6	TogoVar
FRMD1_chr6_168048095_168084212	168078551	C C	CCCCCACG others(30): Show CCCCCACGGCTCTGCTCACCCTCACAGCCCTGCTCACA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0071 a0001c0005t0005g0071	1	402	0.0025	37	c.213 others(52): Show c.213+330_213+331insTGTGAGCAGGGCTGTGAGGGTGAGCAGAGC CGTGGGG		FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10						chr6	TogoVar
FRMD3_chr9_83239622_83543401	83407847	C C	CTCTCTCT others(30): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCATCTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02004.hp1 HG02258.hp1 others(2): Show HG01978.hp2 HG02004.hp1 HG02258.hp1 HG02602.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0024 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0024 a0001c0001t0037 a0001c0002t0003	a0001c0001t0001g0211 a0001c0001t0008g0090 a0001c0001t0024g0227 others(2): Show a0001c0001t0001g0211 a0001c0001t0008g0090 a0001c0001t0024g0227 a0001c0001t0037g0030 a0001c0002t0003g0045	5	242	0.0207	37	c.148 others(56): Show c.148-18140_148-18139insAAGATGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGA		FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13						chr9	TogoVar
FRMD4A_chr10_13638706_14335924	13714020	A A	ATATACAT others(30): Show ATATACATATATAAAATATACATATATATAAAATATAT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0107 a0001c0001t0007g0107	1	134	0.0075	37	c.760 others(54): Show c.760-6908_760-6907insATATATTTTATATATATGTATATTTTAT ATATGTATA		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	12/24						chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13714024	A A	ACATATAT others(30): Show ACATATATAAAATATACATATATATAAAATATATATTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01261.hp1 HG01346.hp2 others(2): Show HG01074.hp2 HG01261.hp1 HG01346.hp2 HG01516.hp1 HG01516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0027 a0002c0004t0002	a0001c0001t0001g0031 a0001c0001t0002g0024 a0001c0001t0005g0030 others(2): Show a0001c0001t0001g0031 a0001c0001t0002g0024 a0001c0001t0005g0030 a0001c0001t0027g0097 a0002c0004t0002g0084	5	134	0.0373	37	c.760 others(54): Show c.760-6912_760-6911insAAATATATATTTTATATATATGTATATT TTATATATG		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	12/24						chr10	TogoVar
FRMD5_chr15_43865764_44200271	43999953	C C	CATATATA others(30): Show CATATATATATATATATATATATGCCATGCATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0134 a0001c0004t0020g0134	1	146	0.0069	37	c.103 others(56): Show c.103-75645_103-75644insATATATATGCATGGCATATATATATA TATATATATAT		FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	1/13						chr15	TogoVar
FRMD6_chr14_51646910_51735727	51721753	A A	AGGAAGGA others(30): Show AGGAAGGAGGGAAGGGAAGGAGGGAAGGAGGGAAGGAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0022 a0001c0006t0022	a0001c0006t0022g0163 a0001c0006t0022g0163	1	390	0.0026	37	c.136 others(54): Show c.1361-182_1361-181insGAAGGAGGGAAGGAGGGAAGGAGGGAAG GAGGGAAGG		FRMD6	ENSG00000139926.16	transcript	ENST00000344768.10	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
FRYL_chr4_48492357_48785279	48645124	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0020 a0020	a0020c0031 a0020c0031	a0020c0031t0001 a0020c0031t0001	a0020c0031t0001g0150 a0020c0031t0001g0150	1	282	0.0036	37	c.-80 others(56): Show c.-80-10635_-80-10634insTATATATATATATATATATATATATA TATATATATAT		FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63						chr4	TogoVar
FSCB_chr14_44499149_44512283	44504951	A A	AGGGGCCT others(30): Show AGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19075.hp2 NA19075.hp2	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0002 a0016c0023t0002	a0016c0023t0002g0000 a0016c0023t0002g0000	1	446	0.0022	37	c.203 others(46): Show c.2036_2037insCCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCC C	p.Ala others(5): Show p.Ala680fs	FSCB	ENSG00000189139.6	transcript	ENST00000340446.5	protein_coding	1/1	2332/3135	2036/2478	679/825			chr14	TogoVar
FSCB_chr14_44499149_44512283	44504985	G G	GAGGGGGC others(30): Show GAGGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19030.hp2 NA19030.hp2	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0002 a0018c0022t0002	a0018c0022t0002g0000 a0018c0022t0002g0000	1	446	0.0022	37	c.200 others(46): Show c.2002_2003insGCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCCC T	p.Ala others(5): Show p.Ala668fs	FSCB	ENSG00000189139.6	transcript	ENST00000340446.5	protein_coding	1/1	2298/3135	2002/2478	668/825			chr14	TogoVar
FSTL4_chr5_133191455_133617541	133517447	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	176	0.0057	37	c.160 others(56): Show c.160+49738_160+49739insATATATATATATATATATATATATAT ATATATTTTTT		FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15						chr5	TogoVar
FSTL5_chr4_161378897_162169000	161437565	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0071 a0001c0012t0001g0071	1	142	0.0070	37	c.184 others(58): Show c.1841+17438_1841+17439insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT		FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	15/15						chr4	TogoVar

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