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
FAM222B_chr17_28750980_28847790	28790884	C C	CATTTTTT others(21): Show CATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18960.hp1 HG02273.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0074 a0001c0001t0001g0029 a0001c0001t0001g0074	2	276	0.0073	28	c.-40 others(47): Show c.-40-24178_-40-24177insAAAAAAAAAAAAAAAAAAAAAAAAAA AT	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28790884	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	276	0.0036	28	c.-40 others(47): Show c.-40-24205_-40-24178dupAAAAAAAAAAAAAAAAAAAAAAAAAA AA	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM227B_chr15_49321970_49625818	49422118	C C	CAGAGAGA others(21): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03831.hp2 NA18966.hp1 HG02040.hp2 HG03831.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0096 a0001c0001t0003g0240 a0001c0001t0003g0253 a0001c0001t0001g0096 a0001c0001t0003g0240 a0001c0001t0003g0253	3	294	0.0102	28	c.101 others(49): Show c.1013-50720_1013-50719insCTCTCTCTCTCTCTCTCTCTCTCT CTCT	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FAM227B_chr15_49321970_49625818	49422120	T T	TAGAGAGA others(21): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0280 a0001c0002t0007g0280	1	294	0.0034	28	c.101 others(49): Show c.1013-50722_1013-50721insCTCTCTCTCTCTCTCTCTCTCTCT CTCT	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FAM227B_chr15_49321970_49625818	49549322	T T	TTTTATTT others(21): Show TTTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0265 a0001c0001t0006g0265	1	294	0.0034	28	c.748 others(45): Show c.748-7517_748-7516insTAAATAAATAAATAAATAAATAAATAAA	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	9/15			chr15	TogoVar
FAM240C_chr2_241888988_241905464	241896839	G G	GTGTGGGT others(21): Show GTGTGGGTGTGGGGGTGTGGGTGTTGGGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	37	0.0270	28	c.161 others(43): Show c.161+346_161+347insACCCAACACCCACACCCCCACACCCACA	FAM240C	ENSG00000216921.9	transcript	ENST00000404031.6	protein_coding	2/2			chr2	TogoVar
FAM3A_chrX_154501171_154521232	154519933	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	339	0.0030	28	c.-41 others(39): Show c.-4189_-4162dupATATATATATATATATATATATATATAT	FAM3A	ENSG00000071889.17	transcript	ENST00000447601.7	protein_coding		3702		chrX	TogoVar
FAM3C_chr7_121343878_121401308	121380733	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	270	0.0037	28	c.14- others(43): Show c.14-1720_14-1719insTATATATATATATATATATATATATATA	FAM3C	ENSG00000196937.11	transcript	ENST00000359943.8	protein_coding	2/9			chr7	TogoVar
FAM47B_chrX_34937796_34949915	34940858	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0018 a0018	a0018c0021 a0018c0021	a0018c0021t0002 a0018c0021t0002	a0018c0021t0002g0000 a0018c0021t0002g0000	1	331	0.0030	28	c.-19 others(39): Show c.-1974_-1973insTGTGTGTGTGTGTGTGTGTGTGTGTGTG	FAM47B	ENSG00000189132.6	transcript	ENST00000329357.6	protein_coding		1937		chrX	TogoVar
FAM47E_chr4_76246721_76288783	76276356	T T	TTTTTGTT others(21): Show TTTTTGTTTCGTTTTTTTTGTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0126 a0004c0004t0001g0126	1	392	0.0026	28	c.871 others(45): Show c.871-1709_871-1708insGTTTCGTTTTTTTTGTTTTTTTTGTTTT	FAM47E	ENSG00000189157.14	transcript	ENST00000424749.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM47E_chr4_76246721_76288783	76276356	T T	TTTTTGTT others(21): Show TTTTTGTTTTGTTTTTTTTGTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG00738.hp2 others(30): Show HG00323.hp1 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01109.hp2 HG01167.hp2 HG01257.hp2 HG01358.hp2 HG01361.hp2 HG01943.hp2 HG02109.hp2 HG02258.hp1 HG02647.hp1 HG02717.hp2 HG02735.hp2 HG02818.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03704.hp2 HG03942.hp2 HG04184.hp2 NA18947.hp1 NA18969.hp1 NA19030.hp2 NA19074.hp2 homoSapiens_chm13v2.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0004c0006 a0003c0003 a0004c0004 a0004c0006	a0003c0003t0002 a0004c0004t0001 a0004c0004t0002 others(1): Show a0003c0003t0002 a0004c0004t0001 a0004c0004t0002 a0004c0006t0001	a0003c0003t0002g0100 a0004c0004t0001g0008 a0004c0004t0001g0014 others(18): Show a0003c0003t0002g0100 a0004c0004t0001g0008 a0004c0004t0001g0014 a0004c0004t0001g0024 a0004c0004t0001g0047 a0004c0004t0001g0070 a0004c0004t0001g0096 a0004c0004t0001g0107 a0004c0004t0001g0108 a0004c0004t0001g0109 a0004c0004t0001g0111 a0004c0004t0001g0112 a0004c0004t0001g0122 a0004c0004t0001g0123 a0004c0004t0001g0135 a0004c0004t0001g0136 a0004c0004t0001g0158 a0004c0004t0002g0101 a0004c0006t0001g0008 a0004c0006t0001g0124 a0004c0006t0001g0127	33	392	0.0842	28	c.871 others(45): Show c.871-1709_871-1708insGTTTTGTTTTTTTTGTTTTTTTTGTTTT	FAM47E	ENSG00000189157.14	transcript	ENST00000424749.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM50A_chrX_154439141_154455654	154442194	A A	ACCACGGA others(21): Show ACCACGGACCCTGAAAAGGAGGTGGGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0006 a0004c0002t0006	a0004c0002t0006g0046 a0004c0002t0006g0046	1	275	0.0036	28	c.-20 others(39): Show c.-2042_-2041insCCACGGACCCTGAAAAGGAGGTGGGAGC	FAM50A	ENSG00000071859.15	transcript	ENST00000393600.8	protein_coding		1946		chrX	TogoVar
FAM53B_chr10_124614292_124749378	124657116	G G	GTATATAT others(21): Show GTATATATATGTGTGTATATACATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0041 a0001c0001t0085g0041	1	330	0.0030	28	c.906 others(47): Show c.906+24490_906+24491insTATATATGTATATACACACATATATA TA	FAM53B	ENSG00000189319.14	transcript	ENST00000337318.8	protein_coding	4/4			chr10	TogoVar
FAM78B_chr1_166064299_166172001	166094003	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01952.hp1 NA18987.hp1 others(1): Show HG01069.hp1 HG01952.hp1 NA18987.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0220 a0001c0001t0002g0232 a0001c0001t0002g0250 others(1): Show a0001c0001t0001g0220 a0001c0001t0002g0232 a0001c0001t0002g0250 a0001c0001t0002g0265	4	318	0.0126	28	c.264 others(47): Show c.264-23268_264-23241dupCACACACACACACACACACACACACA CA	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FAM78B_chr1_166064299_166172001	166109882	G G	GTATATAT others(21): Show GTATATATATATGTATATATGTATATATA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0205 a0001c0002t0003g0205	1	318	0.0031	28	c.264 others(47): Show c.264-39120_264-39119insTATATATACATATATACATATATATA TA	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FAM81B_chr5_95386366_95455441	95439236	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	348	0.0029	28	c.893 others(45): Show c.893+2332_893+2359dupATATATATATATATATATATATATATAT	FAM81B	ENSG00000153347.10	transcript	ENST00000283357.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM83E_chr19_48594961_48620076	48602704	A A	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0095 a0003c0002t0001g0095	1	414	0.0024	28	c.117 others(45): Show c.1176+789_1176+790insATATATATATATATATATTTTTTTTTTT	FAM83E	ENSG00000105523.4	transcript	ENST00000263266.4	protein_coding	6/6			chr19	TogoVar
FAM86B1_chr8_12177106_12199082	12177738	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0011 a0011c0013t0011	a0011c0013t0011g0033 a0011c0013t0011g0033	1	176	0.0057	28	c.58 others(39): Show c.5867_*5868insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	FAM86B1	ENSG00000186523.15	transcript	ENST00000448228.7	protein_coding		4367		chr8	TogoVar
FAM98A_chr2_33578660_33604299	33594608	C C	CACACATA others(21): Show CACACATATATATATACACACATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA19083.hp2 HG00544.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0002 a0001c0001t0002 a0001c0006t0002	a0001c0001t0002g0124 a0001c0006t0002g0123 a0001c0001t0002g0124 a0001c0006t0002g0123	2	406	0.0049	28	c.202 others(43): Show c.202+853_202+880dupATATATATGTGTGTATATATATATGTGT	FAM98A	ENSG00000119812.20	transcript	ENST00000238823.13	protein_coding	2/7			chr2	TogoVar
FAM9B_chrX_9019232_9039127	9021766	T T	TATTATGT others(21): Show TATTATGTATAATATATAATATATATTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01884.hp2 HG02257.hp1 others(7): Show HG01081.hp2 HG01884.hp2 HG02257.hp1 HG02486.hp1 NA18950.hp2 NA18957.hp2 NA18988.hp1 NA19010.hp2 NA19062.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0006g0036	10	258	0.0388	28	c.36 others(39): Show c.3642_*3643insGTAATATATATTATATATTATACATAAT	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		2465		chrX	TogoVar
FAM9B_chrX_9019232_9039127	9022185	A A	ATATATTA others(21): Show ATATATTATGTATAATATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	258	0.0039	28	c.32 others(39): Show c.3223_*3224insATATATATTATATATTATACATAATATA	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		2046		chrX	TogoVar
FAM9B_chrX_9019232_9039127	9022267	T T	TTATATTA others(21): Show TTATATTATGTATAATATATAATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	258	0.0039	28	c.31 others(39): Show c.3141_*3142insTAATATATTATATATTATACATAATATA	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		1964		chrX	TogoVar
FAM9B_chrX_9019232_9039127	9022473	G G	GATATATA others(21): Show GATATATATTATATTATGTATAAGATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA20752.hp1 NA18969.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0001 a0001c0001t0001g0040	2	258	0.0078	28	c.29 others(39): Show c.2935_*2936insTATATCTTATACATAATATAATATATAT	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		1758		chrX	TogoVar
FAM9B_chrX_9019232_9039127	9022723	A A	ATATATTA others(21): Show ATATATTATGTATAAGATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01123.hp2 HG01952.hp1 others(6): Show HG00738.hp1 HG01123.hp2 HG01952.hp1 HG02572.hp1 HG02897.hp2 HG03239.hp1 HG03669.hp1 HG04228.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006	9	258	0.0349	28	c.26 others(39): Show c.2685_*2686insATATATATTATATCTTATACATAATATA	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		1508		chrX	TogoVar
FAM9B_chrX_9019232_9039127	9023158	G G	GATATAAT others(21): Show GATATAATATATATTATATTATGTATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	258	0.0039	28	c.22 others(39): Show c.2250_*2251insATTATACATAATATAATATATATTATAT	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		1073		chrX	TogoVar
FAM9B_chrX_9019232_9039127	9023199	T T	TTATATTA others(21): Show TTATATTATGTATAATATATAATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	258	0.0039	28	c.22 others(39): Show c.2209_*2210insTTATATATTATATATTATACATAATATA	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		1032		chrX	TogoVar
FAN1_chr15_30898915_30948108	30929864	T T	TATATAAA others(21): Show TATATAAAATATATAATATATCATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02886.hp2 others(4): Show HG02145.hp1 HG02257.hp1 HG02886.hp2 HG03098.hp1 HG03225.hp1 NA18906.hp1 NA18981.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0004 a0003c0005t0004 a0003c0005t0006 a0001c0001t0004 a0003c0005t0004 a0003c0005t0006	a0001c0001t0004g0086 a0001c0001t0004g0104 a0003c0005t0004g0011 others(2): Show a0001c0001t0004g0086 a0001c0001t0004g0104 a0003c0005t0004g0011 a0003c0005t0004g0106 a0003c0005t0006g0109	7	303	0.0231	28	c.278 others(45): Show c.2787+472_2787+473insAAATATATAATATATCATATATAATATA	FAN1	ENSG00000198690.10	transcript	ENST00000362065.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
FANCD2_chr3_10021437_10106932	10036086	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG04184.hp1 HG02647.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0236 a0002c0002t0005g0230 a0002c0002t0002g0236 a0002c0002t0005g0230	2	242	0.0083	28	c.439 others(43): Show c.439-182_439-181insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	6/43		INFO_REALIGN_3_PRIME	chr3	TogoVar
FANCI_chr15_89238979_89322131	89321740	G G	GCATTGCT others(21): Show GCATTGCTGGCGGTGAGCCATGTGGGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0014 a0001c0001t0006g0014	1	346	0.0029	28	c.52 others(39): Show c.5281_*5282insCATTGCTGGCGGTGAGCCATGTGGGCTC	FANCI	ENSG00000140525.20	transcript	ENST00000310775.12	protein_coding		4610		chr15	TogoVar
FANK1_chr10_125891564_126014592	125914280	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02622.hp1 HG02723.hp2 HG00438.hp2 HG02622.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0240 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0240	3	370	0.0081	28	c.13+ others(45): Show c.13+17637_13+17638insATATATATATATATATATATATATATAT	FANK1	ENSG00000203780.12	transcript	ENST00000368693.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
FANK1_chr10_125891564_126014592	125919195	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA19057.hp1 NA18940.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0181 a0001c0001t0001g0100 a0001c0001t0001g0181	2	370	0.0054	28	c.13+ others(45): Show c.13+22541_13+22568dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	FANK1	ENSG00000203780.12	transcript	ENST00000368693.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
FAR2_chr12_29144278_29340616	29308705	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	326	0.0031	28	c.724 others(43): Show c.724-480_724-479insTATATATATATATATATATATATATATA	FAR2	ENSG00000064763.12	transcript	ENST00000536681.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
FARP1_chr13_98138094_98460176	98153303	T T	TATTTATA others(21): Show TATTTATATATAAAATATATAAATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03704.hp1 others(1): Show HG03490.hp2 HG03492.hp2 HG03704.hp1 HG04115.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0018 a0001c0001 a0001c0002 a0004c0018	a0001c0001t0002 a0001c0002t0001 a0004c0018t0005 a0001c0001t0002 a0001c0002t0001 a0004c0018t0005	a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0002t0001g0038 others(1): Show a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0002t0001g0038 a0004c0018t0005g0034	4	218	0.0184	28	c.-24 others(45): Show c.-24+9811_-24+9812insATTTATATATAAAATATATAAATATATA	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	1/26			chr13	TogoVar
FARP1_chr13_98138094_98460176	98256948	G G	GGTATATA others(21): Show GGTATATATATATATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01123.hp2 HG01099.hp1 HG01123.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0013 a0001c0001 a0002c0013	a0001c0001t0016 a0002c0013t0016 a0001c0001t0016 a0002c0013t0016	a0001c0001t0016g0106 a0002c0013t0016g0111 a0001c0001t0016g0106 a0002c0013t0016g0111	2	218	0.0092	28	c.171 others(47): Show c.171+43535_171+43536insGTATATATATATATATATATATATAT GT	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	2/26			chr13	TogoVar
FARP1_chr13_98138094_98460176	98277109	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02523.hp1 HG00099.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0047 a0001c0002t0006 a0001c0001t0047 a0001c0002t0006	a0001c0001t0047g0139 a0001c0002t0006g0044 a0001c0001t0047g0139 a0001c0002t0006g0044	2	218	0.0092	28	c.171 others(47): Show c.171+63709_171+63736dupACACACACACACACACACACACACAC AC	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98401415	A A	AACACACA others(21): Show AACACACACACACACACACACACACAGAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0158 a0001c0001t0026g0158	1	218	0.0046	28	c.141 others(47): Show c.1414+5962_1414+5963insCAGACACACACACACACACACACACA CA	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	13/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98401415	A A	AACACACA others(21): Show AACACACACACACACACACACACAGACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02698.hp2 HG04199.hp2 HG02451.hp2 HG02698.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0010 a0001c0002 a0001c0004 a0001c0010	a0001c0002t0003 a0001c0004t0008 a0001c0010t0002 a0001c0002t0003 a0001c0004t0008 a0001c0010t0002	a0001c0002t0003g0020 a0001c0004t0008g0107 a0001c0010t0002g0042 a0001c0002t0003g0020 a0001c0004t0008g0107 a0001c0010t0002g0042	3	218	0.0138	28	c.141 others(47): Show c.1414+5962_1414+5963insGACACACACACACACACACACACACA CA	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	13/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98401415	A A	AACACACA others(21): Show AACACACACACACACACACACAGACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp2 HG02055.hp2 others(11): Show HG01099.hp2 HG01109.hp2 HG02055.hp2 HG02257.hp1 HG02280.hp2 HG02559.hp2 HG02615.hp1 HG02809.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0001t0022 a0001c0001t0026 others(6): Show a0001c0001t0004 a0001c0001t0022 a0001c0001t0026 a0001c0001t0073 a0001c0002t0003 a0001c0002t0009 a0001c0002t0013 a0001c0002t0051 a0001c0003t0024	a0001c0001t0004g0009 a0001c0001t0004g0179 a0001c0001t0004g0204 others(11): Show a0001c0001t0004g0009 a0001c0001t0004g0179 a0001c0001t0004g0204 a0001c0001t0022g0203 a0001c0001t0022g0206 a0001c0001t0026g0148 a0001c0001t0073g0146 a0001c0002t0003g0190 a0001c0002t0003g0202 a0001c0002t0003g0207 a0001c0002t0009g0121 a0001c0002t0013g0191 a0001c0002t0051g0170 a0001c0003t0024g0180	14	218	0.0642	28	c.141 others(47): Show c.1414+5960_1414+5961insGACACACACACACACACACACACACA CA	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	13/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98437463	C C	CAGAAAGC others(21): Show CAGAAAGCAACAGCAAGAAAGCAACAGCA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03209.hp1 HG01192.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0045 a0001c0002t0009 a0001c0001t0045 a0001c0002t0009	a0001c0001t0045g0019 a0001c0002t0009g0181 a0001c0001t0045g0019 a0001c0002t0009g0181	2	218	0.0092	28	c.227 others(47): Show c.2275-1338_2275-1311dupAAAGCAACAGCAAGAAAGCAACAGCA AG	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP2_chr2_241351285_241499841	241366102	A A	AATATATA others(21): Show AATATATATATATATATACATATATATAT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	378	0.0027	28	c.-24 others(45): Show c.-24-6981_-24-6980insTATATATATATATATACATATATATATA	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
FARS2_chr6_5256513_5776583	5315716	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	170	0.0059	28	c.-21 others(47): Show c.-21-52813_-21-52812insCTTTCTTTCTTTCTTTCTTTCTTTCT TT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5315745	T T	TCTTTCTT others(21): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	170	0.0059	28	c.-21 others(47): Show c.-21-52789_-21-52788insCTTTCTTTCTTCCTTTCTTTCTTTCT TT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5407043	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03225.hp1 HG02922.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0129 a0001c0001t0002g0099 a0001c0001t0002g0129	2	170	0.0118	28	c.772 others(45): Show c.772+2366_772+2367insTATATATATATATATATATATATATATA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5407066	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02071.hp1 HG02071.hp2 HG01261.hp1 HG02071.hp1 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0015 a0002c0002t0001g0068 a0002c0002t0002g0142 a0002c0002t0001g0015 a0002c0002t0001g0068 a0002c0002t0002g0142	3	170	0.0177	28	c.772 others(45): Show c.772+2366_772+2367insTATATATATATATATATATATATATAAA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5537423	A A	AGGCCTCC others(21): Show AGGCCTCCTCTCGAGTTGGAGATGTCCCG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01257.hp2 HG01258.hp2 others(26): Show HG01081.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp2 HG02258.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03486.hp1 HG03486.hp2 NA18522.hp1 NA18906.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0002c0002 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0004t0002 a0001c0005t0001 a0002c0002t0001 a0002c0002t0002 a0006c0009t0002	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 others(26): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0121 a0001c0001t0002g0133 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0003g0157 a0001c0003t0001g0076 a0001c0003t0002g0166 a0001c0004t0002g0095 a0001c0004t0002g0150 a0001c0005t0001g0002 a0002c0002t0001g0060 a0002c0002t0002g0162 a0006c0009t0002g0097	29	170	0.1706	28	c.905 others(45): Show c.905-7742_905-7715dupTTGGAGATGTCCCGGGCCTCCTCTCGAG	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5537466	C C	CTGGAGAT others(21): Show CTGGAGATGTCCCGGGCCTCCTCTCGAGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG01106.hp2 others(11): Show HG00140.hp1 HG00642.hp2 HG01106.hp2 HG01109.hp1 HG01361.hp1 HG01496.hp2 HG01952.hp1 HG01993.hp1 HG03130.hp2 HG03540.hp1 HG03540.hp2 HG04228.hp2 NA18968.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0039 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0002g0107 a0001c0001t0002g0128 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0007t0001g0038 a0002c0002t0001g0043	14	170	0.0824	28	c.905 others(45): Show c.905-7641_905-7614dupCTCCTCTCGAGTTGGAGATGTCCCGGGC	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5537563	G G	GGGCCTCC others(21): Show GGGCCTCCTCTCGAGTTGGAGATGTCCCA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG02257.hp1 others(2): Show HG01243.hp2 HG02145.hp2 HG02257.hp1 HG02622.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0006 a0001c0003t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0001	a0001c0001t0002g0109 a0001c0001t0002g0124 a0001c0001t0002g0170 others(2): Show a0001c0001t0002g0109 a0001c0001t0002g0124 a0001c0001t0002g0170 a0001c0001t0006g0163 a0001c0003t0001g0005	5	170	0.0294	28	c.905 others(45): Show c.905-7614_905-7613insCTCCTCTCGAGTTGGAGATGTCCCAGGC	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5539384	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03130.hp2 HG02717.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0077 a0001c0001t0001g0079	2	170	0.0118	28	c.905 others(45): Show c.905-5781_905-5780insATATATATATATATATATATATATATAT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5539384	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	170	0.0059	28	c.905 others(45): Show c.905-5795_905-5794insGTATATATATATATATATATATATATAT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5539384	G G	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01978.hp1 NA18999.hp1 HG01175.hp1 HG01978.hp1 NA18999.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0089 a0001c0001t0002g0137 a0002c0002t0001g0031 a0001c0001t0001g0089 a0001c0001t0002g0137 a0002c0002t0001g0031	3	170	0.0177	28	c.905 others(45): Show c.905-5795_905-5794insGTGTATATATATATATATATATATATAT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar

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