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
FOXP1_chr3_70949708_71588728	71232877	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG04228.hp1 HG02818.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0015 a0001c0001t0009 a0001c0001t0015	a0001c0001t0009g0029 a0001c0001t0015g0050 a0001c0001t0009g0029 a0001c0001t0015g0050	2	96	0.0208	18	c.-11 others(37): Show c.-11-34503_-11-34486dupTTTTTTTTTTTTTTTTTT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	5/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71406403	G G	GTATGTAT others(11): Show GTATGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0030 a0001c0001t0075g0030	1	96	0.0104	18	c.-16 others(39): Show c.-167-47160_-167-47159insTATATATATATATACATA	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71496961	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03041.hp2 HG03239.hp1 others(1): Show HG00735.hp2 HG03041.hp2 HG03239.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0046 others(1): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0046 a0001c0001t0056	a0001c0001t0005g0004 a0001c0001t0009g0029 a0001c0001t0046g0017 others(1): Show a0001c0001t0005g0004 a0001c0001t0009g0029 a0001c0001t0046g0017 a0001c0001t0056g0093	4	96	0.0417	18	c.-29 others(37): Show c.-297-3424_-297-3407dupACACACACACACACACAC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	2/20			chr3	TogoVar
FOXP4_chr6_41541381_41607384	41564774	A A	AGTCAAAA others(11): Show AGTCAAAAGTGCTACTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0087 a0001c0002t0008g0087	1	356	0.0028	18	c.-16 others(33): Show c.-16-970_-16-969insTCAAAAGTGCTACTTTTG	FOXP4	ENSG00000137166.18	transcript	ENST00000307972.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
FOXP4_chr6_41541381_41607384	41570079	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0037 a0001c0003t0006g0037	2	356	0.0056	18	c.204 others(35): Show c.204+4136_204+4153dupACACACACACACACACAC	FOXP4	ENSG00000137166.18	transcript	ENST00000307972.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
FOXR1_chr11_118966761_118986287	118969623	A A	AGGAAGGA others(11): Show AGGAAGGAAGGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18984.hp1 NA18973.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	430	0.0047	18	c.-23 others(29): Show c.-2309_-2308insGGAAGGAAGGAAAGAAAG	FOXR1	ENSG00000176302.13	transcript	ENST00000317011.8	protein_coding		2137		chr11	TogoVar
FOXR2_chrX_55618400_55631192	55619234	T T	TATATATA others(11): Show TATATATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	325	0.0031	18	c.-44 others(29): Show c.-4478_-4477insATATATATACACACACAC	FOXR2	ENSG00000189299.7	transcript	ENST00000339140.5	protein_coding		4165		chrX	TogoVar
FOXRED2_chr22_36482190_36512040	36483281	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18946.hp2 NA18948.hp2 others(1): Show NA18943.hp2 NA18946.hp2 NA18948.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0054 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0054 a0001c0001t0001g0072	4	320	0.0125	18	c.67 others(29): Show c.6726_*6727insAAAAAAAAAAAAAAAAAA	FOXRED2	ENSG00000100350.16	transcript	ENST00000397224.9	protein_coding		3908		chr22	TogoVar
FPR3_chr19_51790157_51831190	51795504	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0272 a0001c0001t0015g0272	1	416	0.0024	18	c.-11 others(33): Show c.-11+185_-11+202dupTTTTTTTTTTTTTTTTTT	FPR3	ENSG00000187474.5	transcript	ENST00000339223.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
FRA10AC1_chr10_93662883_93707592	93702522	A A	ACCACCGC others(11): Show ACCACCGCCGCCGCCGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0029 a0004c0004t0029	a0004c0004t0029g0075 a0004c0004t0029g0075	1	364	0.0028	18	c.-14 others(27): Show c.-149_-148insCGGCGGCGGCGGCGGTGG	FRA10AC1	ENSG00000148690.12	transcript	ENST00000359204.5	protein_coding	1/14	2417		chr10	TogoVar
FRAS1_chr4_78052323_78549269	78065081	T T	TATATATA others(11): Show TATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0094 a0094	a0094c0122 a0094c0122	a0094c0122t0008 a0094c0122t0008	a0094c0122t0008g0081 a0094c0122t0008g0081	1	178	0.0056	18	c.77- others(31): Show c.77-901_77-900insTATATACACACACACATA	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	1/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FRAS1_chr4_78052323_78549269	78065081	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0021 a0021	a0021c0023 a0021c0023	a0021c0023t0006 a0021c0023t0006	a0021c0023t0006g0097 a0021c0023t0006g0097	1	178	0.0056	18	c.77- others(31): Show c.77-901_77-900insTATATATATATACACATA	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	1/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FRAS1_chr4_78052323_78549269	78067672	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA19240.hp1 NA20129.hp2 HG02818.hp1 NA19240.hp1 NA20129.hp2	a0004 a0005 a0004 a0005	a0004c0017 a0004c0089 a0005c0004 a0004c0017 a0004c0089 a0005c0004	a0004c0017t0016 a0004c0089t0026 a0005c0004t0022 a0004c0017t0016 a0004c0089t0026 a0005c0004t0022	a0004c0017t0016g0135 a0004c0089t0026g0151 a0005c0004t0022g0122 a0004c0017t0016g0135 a0004c0089t0026g0151 a0005c0004t0022g0122	3	178	0.0169	18	c.108 others(35): Show c.108+1680_108+1697dupATTATTATTATTATTATT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	2/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FRAS1_chr4_78052323_78549269	78161742	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0072 a0072	a0072c0098 a0072c0098	a0072c0098t0031 a0072c0098t0031	a0072c0098t0031g0159 a0072c0098t0031g0159	1	178	0.0056	18	c.109 others(37): Show c.109-75755_109-75738dupAAAAAAAAAAAAAAAAAA	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	2/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FRAS1_chr4_78052323_78549269	78312179	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp1 HG01256.hp1 others(4): Show HG00140.hp1 HG01106.hp1 HG01256.hp1 HG02976.hp1 HG03453.hp1 HG03704.hp2 homoSapiens_chm13v2.hp1	a0008 a0013 a0041 others(3): Show a0008 a0013 a0041 a0050 a0053 a0054	a0008c0006 a0013c0009 a0041c0044 others(3): Show a0008c0006 a0013c0009 a0041c0044 a0050c0027 a0053c0064 a0054c0065	a0008c0006t0004 a0013c0009t0020 a0041c0044t0017 others(3): Show a0008c0006t0004 a0013c0009t0020 a0041c0044t0017 a0050c0027t0047 a0053c0064t0019 a0054c0065t0002	a0008c0006t0004g0172 a0013c0009t0020g0008 a0013c0009t0020g0013 others(4): Show a0008c0006t0004g0172 a0013c0009t0020g0008 a0013c0009t0020g0013 a0041c0044t0017g0030 a0050c0027t0047g0006 a0053c0064t0019g0033 a0054c0065t0002g0051	7	178	0.0393	18	c.167 others(37): Show c.1679-3412_1679-3395dupATATATATATATATATAT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	15/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FRAS1_chr4_78052323_78549269	78312879	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03017.hp1 NA18964.hp2 HG02135.hp2 HG03017.hp1 NA18964.hp2	a0001 a0009 a0046 a0001 a0009 a0046	a0001c0001 a0009c0096 a0046c0048 a0001c0001 a0009c0096 a0046c0048	a0001c0001t0002 a0009c0096t0034 a0046c0048t0002 a0001c0001t0002 a0009c0096t0034 a0046c0048t0002	a0001c0001t0002g0072 a0009c0096t0034g0141 a0046c0048t0002g0035 a0001c0001t0002g0072 a0009c0096t0034g0141 a0046c0048t0002g0035	3	178	0.0169	18	c.167 others(37): Show c.1679-2712_1679-2711insGAGAGAGAGAGAGAAAGA	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	15/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FRAS1_chr4_78052323_78549269	78468485	A A	ACATCATC others(11): Show ACATCATCATCATCATCAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG02109.hp2 others(3): Show HG00140.hp1 HG00408.hp2 HG02109.hp2 HG03017.hp2 NA19085.hp1 NA20805.hp1	a0003 a0014 a0031 others(1): Show a0003 a0014 a0031 a0054	a0003c0002 a0014c0008 a0031c0031 others(1): Show a0003c0002 a0014c0008 a0031c0031 a0054c0065	a0003c0002t0001 a0003c0002t0049 a0014c0008t0002 others(2): Show a0003c0002t0001 a0003c0002t0049 a0014c0008t0002 a0031c0031t0002 a0054c0065t0002	a0003c0002t0001g0060 a0003c0002t0049g0007 a0014c0008t0002g0052 others(3): Show a0003c0002t0001g0060 a0003c0002t0049g0007 a0014c0008t0002g0052 a0014c0008t0002g0062 a0031c0031t0002g0041 a0054c0065t0002g0051	6	178	0.0337	18	c.725 others(37): Show c.7258-1474_7258-1457dupCATCATCATCATCATCAT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	50/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FRAS1_chr4_78052323_78549269	78483768	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00558.hp1 others(7): Show HG00280.hp1 HG00408.hp2 HG00558.hp1 HG02293.hp2 HG02486.hp2 HG03239.hp1 HG03942.hp2 NA18962.hp1 NA18964.hp2 NA21309.hp1	a0001 a0003 a0006 others(5): Show a0001 a0003 a0006 a0020 a0046 a0082 a0088 a0090	a0001c0001 a0003c0002 a0003c0033 others(6): Show a0001c0001 a0003c0002 a0003c0033 a0006c0102 a0020c0106 a0046c0048 a0082c0114 a0088c0116 a0090c0118	a0001c0001t0052 a0003c0002t0002 a0003c0002t0049 others(7): Show a0001c0001t0052 a0003c0002t0002 a0003c0002t0049 a0003c0033t0003 a0006c0102t0021 a0020c0106t0006 a0046c0048t0002 a0082c0114t0055 a0088c0116t0009 a0090c0118t0010	a0001c0001t0052g0128 a0003c0002t0002g0001 a0003c0002t0049g0007 others(7): Show a0001c0001t0052g0128 a0003c0002t0002g0001 a0003c0002t0049g0007 a0003c0033t0003g0059 a0006c0102t0021g0133 a0020c0106t0006g0074 a0046c0048t0002g0035 a0082c0114t0055g0149 a0088c0116t0009g0118 a0090c0118t0010g0157	10	178	0.0562	18	c.875 others(37): Show c.8752+1234_8752+1235insATATATATATATATATAT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	58/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FRAS1_chr4_78052323_78549269	78518422	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0076 a0076	a0076c0094 a0076c0094	a0076c0094t0001 a0076c0094t0001	a0076c0094t0001g0110 a0076c0094t0001g0110	1	178	0.0056	18	c.103 others(37): Show c.10390-908_10390-907insGTGTATATATATATATAT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	66/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FREM1_chr9_14732152_14915428	14759518	C C	CAATAATA others(11): Show CAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03669.hp2 NA20300.hp1 HG02258.hp1 HG03669.hp2 NA20300.hp1	a0005 a0043 a0102 a0005 a0043 a0102	a0005c0120 a0043c0148 a0102c0063 a0005c0120 a0043c0148 a0102c0063	a0005c0120t0001 a0043c0148t0005 a0102c0063t0001 a0005c0120t0001 a0043c0148t0005 a0102c0063t0001	a0005c0120t0001g0291 a0043c0148t0005g0070 a0102c0063t0001g0177 a0005c0120t0001g0291 a0043c0148t0005g0070 a0102c0063t0001g0177	3	346	0.0087	18	c.533 others(35): Show c.5334+253_5334+254insATTATTATTATTATTATT	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	28/36			chr9	TogoVar
FREM1_chr9_14732152_14915428	14780433	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01261.hp1 HG02280.hp1 others(5): Show HG01243.hp2 HG01261.hp1 HG02280.hp1 HG02809.hp1 HG02965.hp2 HG03041.hp2 HG03225.hp2 HG03834.hp1	a0014 a0028 a0029 others(4): Show a0014 a0028 a0029 a0039 a0040 a0067 a0113	a0014c0075 a0028c0174 a0029c0037 others(5): Show a0014c0075 a0028c0174 a0029c0037 a0039c0137 a0040c0136 a0040c0185 a0067c0165 a0113c0140	a0014c0075t0001 a0028c0174t0001 a0029c0037t0001 others(5): Show a0014c0075t0001 a0028c0174t0001 a0029c0037t0001 a0039c0137t0004 a0040c0136t0001 a0040c0185t0002 a0067c0165t0006 a0113c0140t0001	a0014c0075t0001g0117 a0028c0174t0001g0173 a0029c0037t0001g0292 others(5): Show a0014c0075t0001g0117 a0028c0174t0001g0173 a0029c0037t0001g0292 a0039c0137t0004g0057 a0040c0136t0001g0093 a0040c0185t0002g0243 a0067c0165t0006g0069 a0113c0140t0001g0211	8	346	0.0231	18	c.444 others(37): Show c.4442+3936_4442+3937insTTTTTTTTTTTTTTTTTT	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	24/36			chr9	TogoVar
FREM1_chr9_14732152_14915428	14825547	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp2 HG02572.hp1 others(5): Show HG00735.hp2 HG01243.hp2 HG02572.hp1 HG02970.hp2 HG03486.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp1	a0001 a0003 a0009 others(4): Show a0001 a0003 a0009 a0022 a0028 a0111 a0118	a0001c0047 a0003c0231 a0009c0035 others(4): Show a0001c0047 a0003c0231 a0009c0035 a0022c0213 a0028c0174 a0111c0149 a0118c0059	a0001c0047t0005 a0003c0231t0001 a0009c0035t0001 others(5): Show a0001c0047t0005 a0003c0231t0001 a0009c0035t0001 a0009c0035t0007 a0022c0213t0002 a0028c0174t0001 a0111c0149t0004 a0118c0059t0001	a0001c0047t0005g0204 a0003c0231t0001g0045 a0009c0035t0001g0222 others(5): Show a0001c0047t0005g0204 a0003c0231t0001g0045 a0009c0035t0001g0222 a0009c0035t0007g0308 a0022c0213t0002g0005 a0028c0174t0001g0173 a0111c0149t0004g0242 a0118c0059t0001g0046	8	346	0.0231	18	c.188 others(35): Show c.1882-556_1882-555insTATATATATATATATACA	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	10/36			chr9	TogoVar
FREM1_chr9_14732152_14915428	14825547	G G	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA18941.hp2 NA18952.hp2 HG02895.hp2 NA18941.hp2 NA18952.hp2	a0009 a0064 a0009 a0064	a0009c0103 a0009c0167 a0064c0101 a0009c0103 a0009c0167 a0064c0101	a0009c0103t0001 a0009c0167t0001 a0064c0101t0003 a0009c0103t0001 a0009c0167t0001 a0064c0101t0003	a0009c0103t0001g0285 a0009c0167t0001g0275 a0064c0101t0003g0212 a0009c0103t0001g0285 a0009c0167t0001g0275 a0064c0101t0003g0212	3	346	0.0087	18	c.188 others(35): Show c.1882-556_1882-555insTATATATATATACACACA	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	10/36			chr9	TogoVar
FREM1_chr9_14732152_14915428	14825547	G G	GTGTGTGT others(11): Show GTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01167.hp1 HG01257.hp2 others(9): Show HG00733.hp2 HG01167.hp1 HG01257.hp2 HG01258.hp1 HG01934.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG03471.hp1 NA18970.hp2 NA18972.hp2 NA19077.hp1	a0002 a0004 a0075 others(3): Show a0002 a0004 a0075 a0079 a0085 a0088	a0002c0001 a0002c0005 a0004c0004 others(5): Show a0002c0001 a0002c0005 a0004c0004 a0004c0015 a0075c0062 a0079c0113 a0085c0202 a0088c0134	a0002c0001t0002 a0002c0005t0001 a0004c0004t0001 others(5): Show a0002c0001t0002 a0002c0005t0001 a0004c0004t0001 a0004c0015t0001 a0075c0062t0001 a0079c0113t0001 a0085c0202t0002 a0088c0134t0001	a0002c0001t0002g0161 a0002c0001t0002g0276 a0002c0001t0002g0277 others(9): Show a0002c0001t0002g0161 a0002c0001t0002g0276 a0002c0001t0002g0277 a0002c0005t0001g0252 a0002c0005t0001g0272 a0004c0004t0001g0017 a0004c0004t0001g0321 a0004c0015t0001g0121 a0075c0062t0001g0217 a0079c0113t0001g0074 a0085c0202t0002g0137 a0088c0134t0001g0190	12	346	0.0347	18	c.188 others(35): Show c.1882-556_1882-555insTATATATATACACACACA	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	10/36			chr9	TogoVar
FREM1_chr9_14732152_14915428	14882912	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01975.hp1 HG02647.hp1 others(3): Show HG01167.hp2 HG01975.hp1 HG02647.hp1 HG02970.hp1 HG03041.hp2 NA18522.hp2	a0002 a0030 a0039 others(3): Show a0002 a0030 a0039 a0071 a0082 a0111	a0002c0005 a0030c0020 a0039c0137 others(3): Show a0002c0005 a0030c0020 a0039c0137 a0071c0152 a0082c0172 a0111c0149	a0002c0005t0001 a0030c0020t0001 a0039c0137t0004 others(3): Show a0002c0005t0001 a0030c0020t0001 a0039c0137t0004 a0071c0152t0001 a0082c0172t0004 a0111c0149t0004	a0002c0005t0001g0252 a0030c0020t0001g0189 a0039c0137t0004g0057 others(3): Show a0002c0005t0001g0252 a0030c0020t0001g0189 a0039c0137t0004g0057 a0071c0152t0001g0319 a0082c0172t0004g0050 a0111c0149t0004g0242	6	346	0.0173	18	c.-26 others(39): Show c.-267-13669_-267-13668insTTTTTTTTTTTTTTTTTT	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	1/36			chr9	TogoVar
FREM2_chr13_38682077_38892131	38747395	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19043.hp2 HG02965.hp2 NA19043.hp2	a0012 a0037 a0012 a0037	a0012c0020 a0037c0063 a0012c0020 a0037c0063	a0012c0020t0002 a0037c0063t0014 a0012c0020t0002 a0037c0063t0014	a0012c0020t0002g0126 a0037c0063t0014g0104 a0012c0020t0002g0126 a0037c0063t0014g0104	2	262	0.0076	18	c.526 others(39): Show c.5264-16893_5264-16876dupGTGTGTGTGTGTGTGTGT	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
FREM2_chr13_38682077_38892131	38754901	G G	GATTATTA others(11): Show GATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02735.hp1 HG02895.hp1 others(12): Show HG02129.hp1 HG02735.hp1 HG02895.hp1 HG02897.hp1 HG03130.hp2 HG03486.hp1 HG03486.hp2 NA18962.hp2 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19067.hp1 NA19070.hp2 NA19082.hp1 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0008 a0011	a0001c0029 a0002c0006 a0002c0077 others(6): Show a0001c0029 a0002c0006 a0002c0077 a0003c0003 a0003c0005 a0006c0021 a0008c0019 a0008c0051 a0011c0018	a0001c0029t0002 a0002c0006t0013 a0002c0077t0009 others(10): Show a0001c0029t0002 a0002c0006t0013 a0002c0077t0009 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0034 a0003c0005t0001 a0003c0005t0002 a0006c0021t0002 a0008c0019t0003 a0008c0051t0003 a0011c0018t0003	a0001c0029t0002g0150 a0002c0006t0013g0032 a0002c0077t0009g0139 others(12): Show a0001c0029t0002g0150 a0002c0006t0013g0032 a0002c0077t0009g0139 a0003c0003t0002g0067 a0003c0003t0003g0086 a0003c0003t0004g0084 a0003c0003t0034g0081 a0003c0005t0001g0072 a0003c0005t0001g0080 a0003c0005t0002g0075 a0006c0021t0002g0191 a0008c0019t0003g0121 a0008c0051t0003g0120 a0011c0018t0003g0112 a0011c0018t0003g0113	15	262	0.0573	18	c.526 others(37): Show c.5264-9401_5264-9384dupTTATTATTATTATTATTA	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
FREM2_chr13_38682077_38892131	38807188	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA18969.hp2 NA19004.hp2 HG01192.hp1 NA18969.hp2 NA19004.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0003 a0007c0025 a0001c0001 a0003c0003 a0007c0025	a0001c0001t0001 a0003c0003t0004 a0007c0025t0003 a0001c0001t0001 a0003c0003t0004 a0007c0025t0003	a0001c0001t0001g0158 a0003c0003t0004g0084 a0007c0025t0003g0229 a0001c0001t0001g0158 a0003c0003t0004g0084 a0007c0025t0003g0229	3	262	0.0115	18	c.601 others(39): Show c.6019+22380_6019+22381insATATATATATATATATAT	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23			chr13	TogoVar
FREM2_chr13_38682077_38892131	38807189	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18940.hp2 HG00673.hp2 NA18940.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0007 a0001c0001t0001 a0003c0003t0007	a0001c0001t0001g0164 a0003c0003t0007g0076 a0001c0001t0001g0164 a0003c0003t0007g0076	2	262	0.0076	18	c.601 others(39): Show c.6019+22403_6019+22420dupATATATATATATATATAT	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
FREM2_chr13_38682077_38892131	38840644	A A	ATATATAT others(11): Show ATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02109.hp2 HG02622.hp2 others(6): Show HG01261.hp1 HG02109.hp2 HG02622.hp2 HG02723.hp2 HG03486.hp1 HG03710.hp2 NA19030.hp1 NA19030.hp2 NA20300.hp1	a0001 a0008 a0014 others(3): Show a0001 a0008 a0014 a0020 a0048 a0053	a0001c0002 a0001c0009 a0001c0030 others(5): Show a0001c0002 a0001c0009 a0001c0030 a0008c0019 a0014c0022 a0020c0040 a0048c0065 a0053c0069	a0001c0002t0003 a0001c0009t0008 a0001c0030t0003 others(5): Show a0001c0002t0003 a0001c0009t0008 a0001c0030t0003 a0008c0019t0003 a0014c0022t0003 a0020c0040t0003 a0048c0065t0003 a0053c0069t0003	a0001c0002t0003g0138 a0001c0002t0003g0180 a0001c0009t0008g0260 others(6): Show a0001c0002t0003g0138 a0001c0002t0003g0180 a0001c0009t0008g0260 a0001c0030t0003g0144 a0008c0019t0003g0121 a0014c0022t0003g0001 a0020c0040t0003g0005 a0048c0065t0003g0100 a0053c0069t0003g0108	9	262	0.0344	18	c.602 others(37): Show c.6020-5928_6020-5927insATATATATATATATGTGT	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
FREM2_chr13_38682077_38892131	38886333	T T	TATATACA others(11): Show TATATACACACACACAGAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG03098.hp1 HG02257.hp2 HG03098.hp1	a0016 a0052 a0016 a0052	a0016c0059 a0052c0045 a0016c0059 a0052c0045	a0016c0059t0043 a0052c0045t0054 a0016c0059t0043 a0052c0045t0054	a0016c0059t0043g0101 a0052c0045t0054g0257 a0016c0059t0043g0101 a0052c0045t0054g0257	2	262	0.0076	18	c.55 others(29): Show c.5561_*5562insGACATATACACACACACA	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	24/24	5562	INFO_REALIGN_3_PRIME	chr13	TogoVar
FRG2C_chr3_75659328_75672173	75663722	A A	AGACTTTT others(11): Show AGACTTTTTGCTACCTCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0016 a0009c0008t0016	a0009c0008t0016g0017 a0009c0008t0016g0017	1	410	0.0024	18	c.-65 others(27): Show c.-658_-657insGACTTTTTGCTACCTCAG	FRG2C	ENSG00000172969.8	transcript	ENST00000308062.8	protein_coding		605		chr3	TogoVar
FRG2C_chr3_75659328_75672173	75671807	T T	TGGAGAGA others(11): Show TGGAGAGATAGAAACGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	18	c.57 others(29): Show c.5766_*5767insGGAGAGATAGAAACGGAA	FRG2C	ENSG00000172969.8	transcript	ENST00000308062.8	protein_coding		4635		chr3	TogoVar
FRG2C_chr3_75659328_75672173	75671878	C C	CGAGAGAG others(11): Show CGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03654.hp1 HG02818.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	410	0.0049	18	c.58 others(29): Show c.5837_*5838insGAGAGAGAGAGAGAGAGA	FRG2C	ENSG00000172969.8	transcript	ENST00000308062.8	protein_coding		4706		chr3	TogoVar
FRG2C_chr3_75659328_75672173	75671915	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02615.hp1 HG03225.hp2 HG02155.hp1 HG02615.hp1 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0003 a0001c0003t0003g0003	3	410	0.0073	18	c.58 others(29): Show c.5874_*5875insAGAGAGAGAGAGAGAGAC	FRG2C	ENSG00000172969.8	transcript	ENST00000308062.8	protein_coding		4743		chr3	TogoVar
FRMD1_chr6_168048095_168084212	168078630	A A	AGCCCTGC others(11): Show AGCCCTGCTCACCCCCACG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0091 a0003c0006t0006g0091	1	402	0.0025	18	c.213 others(33): Show c.213+251_213+252insCGTGGGGGTGAGCAGGGC	FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10			chr6	TogoVar
FRMD1_chr6_168048095_168084212	168078679	T T	TCTGCTCA others(11): Show TCTGCTCACCCCCACAGCC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0092 a0003c0006t0006g0092	1	402	0.0025	18	c.213 others(33): Show c.213+185_213+202dupGGCTGTGGGGGTGAGCAG	FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10			chr6	TogoVar
FRMD1_chr6_168048095_168084212	168078679	T T	TCTGCTCA others(11): Show TCTGCTCACCCTCACGGCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0199 a0001c0004t0014g0199	1	402	0.0025	18	c.213 others(33): Show c.213+202_213+203insGGCCGTGAGGGTGAGCAG	FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10			chr6	TogoVar
FRMD1_chr6_168048095_168084212	168078777	C C	CACCCCCA others(11): Show CACCCCCACAGCTCTGTTT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0237 a0001c0007t0008g0237	1	402	0.0025	18	c.213 others(33): Show c.213+104_213+105insAAACAGAGCTGTGGGGGT	FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10			chr6	TogoVar
FRMD1_chr6_168048095_168084212	168078799	C C	CCTGCTCA others(11): Show CCTGCTCACTCCCATGGCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00438.hp1 others(67): Show HG00099.hp1 HG00140.hp2 HG00438.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG01074.hp2 HG01099.hp2 HG01192.hp1 HG01346.hp1 HG01433.hp1 HG01928.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02083.hp2 HG02135.hp1 HG02145.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02717.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03471.hp2 HG03654.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp2 NA18947.hp2 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18967.hp2 NA18971.hp1 NA18978.hp2 NA18980.hp1 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18993.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19068.hp1 NA19074.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0005 a0001c0007 a0001c0010 others(7): Show a0001c0005 a0001c0007 a0001c0010 a0001c0025 a0002c0003 a0002c0014 a0003c0006 a0003c0015 a0003c0022 a0008c0026	a0001c0005t0005 a0001c0005t0015 a0001c0005t0028 others(17): Show a0001c0005t0005 a0001c0005t0015 a0001c0005t0028 a0001c0005t0029 a0001c0007t0008 a0001c0007t0025 a0001c0007t0061 a0001c0007t0071 a0001c0010t0070 a0001c0025t0033 a0002c0003t0062 a0002c0014t0031 a0002c0014t0072 a0003c0006t0006 a0003c0006t0013 a0003c0006t0032 a0003c0006t0034 a0003c0015t0006 a0003c0022t0027 a0008c0026t0026	a0001c0005t0005g0017 a0001c0005t0005g0018 a0001c0005t0005g0028 others(53): Show a0001c0005t0005g0017 a0001c0005t0005g0018 a0001c0005t0005g0028 a0001c0005t0005g0029 a0001c0005t0005g0058 a0001c0005t0005g0059 a0001c0005t0005g0060 a0001c0005t0005g0062 a0001c0005t0005g0063 a0001c0005t0005g0064 a0001c0005t0005g0066 a0001c0005t0005g0068 a0001c0005t0005g0069 a0001c0005t0005g0070 a0001c0005t0005g0071 a0001c0005t0005g0073 a0001c0005t0005g0074 a0001c0005t0015g0061 a0001c0005t0015g0067 a0001c0005t0028g0072 a0001c0005t0029g0065 a0001c0007t0008g0016 a0001c0007t0008g0230 a0001c0007t0008g0231 a0001c0007t0008g0232 a0001c0007t0008g0233 a0001c0007t0008g0234 a0001c0007t0008g0236 a0001c0007t0025g0225 a0001c0007t0061g0202 a0001c0007t0071g0238 a0001c0010t0070g0235 a0001c0025t0033g0097 a0002c0003t0062g0226 a0002c0014t0031g0077 a0002c0014t0072g0239 a0003c0006t0006g0009 a0003c0006t0006g0030 a0003c0006t0006g0031 a0003c0006t0006g0080 a0003c0006t0006g0081 a0003c0006t0006g0083 a0003c0006t0006g0084 a0003c0006t0006g0087 a0003c0006t0006g0088 a0003c0006t0006g0089 a0003c0006t0006g0090 a0003c0006t0006g0091 a0003c0006t0006g0092 a0003c0006t0013g0082 a0003c0006t0013g0086 a0003c0006t0032g0085 a0003c0006t0034g0096 a0003c0015t0006g0079 a0003c0022t0027g0057 a0008c0026t0026g0076	70	402	0.1741	18	c.213 others(31): Show c.213+82_213+83insAGCCATGGGAGTGAGCAG	FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10			chr6	TogoVar
FRMD3_chr9_83239622_83543401	83261102	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03831.hp1 NA19074.hp1 others(2): Show HG00544.hp1 HG03831.hp1 NA19074.hp1 NA19084.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010	a0001c0001t0002g0217 a0001c0001t0002g0242 a0001c0001t0004g0231 others(2): Show a0001c0001t0002g0217 a0001c0001t0002g0242 a0001c0001t0004g0231 a0001c0001t0006g0068 a0001c0001t0010g0078	5	242	0.0207	18	c.119 others(39): Show c.1196-12604_1196-12587dupGTGTGTGTGTGTGTGTGT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	13/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83342043	A A	ATCTCTCT others(11): Show ATCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01952.hp1 HG01123.hp2 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0016 a0001c0001t0011 a0001c0001t0016	a0001c0001t0011g0093 a0001c0001t0016g0057 a0001c0001t0011g0093 a0001c0001t0016g0057	2	242	0.0083	18	c.472 others(35): Show c.472+1129_472+1146dupGAGAGAGAGAGAGAGAGA	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	5/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83351323	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00738.hp2 others(23): Show HG00099.hp2 HG00438.hp2 HG00738.hp2 HG01168.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01952.hp1 HG01993.hp1 HG02129.hp1 HG02145.hp2 HG02258.hp2 HG02615.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02895.hp1 HG03195.hp1 HG03516.hp1 HG03831.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18949.hp1 NA18986.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(15): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0025 a0001c0001t0031 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0056 a0001c0001t0063 a0001c0002t0003 a0001c0002t0007 a0001c0002t0045	a0001c0001t0001g0114 a0001c0001t0001g0145 a0001c0001t0001g0163 others(23): Show a0001c0001t0001g0114 a0001c0001t0001g0145 a0001c0001t0001g0163 a0001c0001t0001g0212 a0001c0001t0005g0169 a0001c0001t0005g0200 a0001c0001t0008g0034 a0001c0001t0009g0035 a0001c0001t0009g0087 a0001c0001t0010g0089 a0001c0001t0015g0161 a0001c0001t0016g0031 a0001c0001t0016g0057 a0001c0001t0018g0097 a0001c0001t0025g0222 a0001c0001t0031g0170 a0001c0001t0031g0180 a0001c0001t0038g0091 a0001c0001t0039g0092 a0001c0001t0041g0059 a0001c0001t0056g0162 a0001c0001t0063g0175 a0001c0002t0003g0026 a0001c0002t0003g0048 a0001c0002t0007g0135 a0001c0002t0045g0040	26	242	0.1074	18	c.296 others(35): Show c.296-1584_296-1567dupGTGTGTGTGTGTGTGTGT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	3/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83407837	G G	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03098.hp2 HG02896.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0042 a0001c0001t0013 a0001c0001t0042	a0001c0001t0013g0102 a0001c0001t0042g0042 a0001c0001t0013g0102 a0001c0001t0042g0042	2	242	0.0083	18	c.148 others(37): Show c.148-18147_148-18130dupGAGAGAGAGAGAGAGAGA	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83436458	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02976.hp1 HG02622.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0024 a0001c0002t0028 a0001c0001t0024 a0001c0002t0028	a0001c0001t0024g0227 a0001c0002t0028g0155 a0001c0001t0024g0227 a0001c0002t0028g0155	2	242	0.0083	18	c.148 others(37): Show c.148-46768_148-46751dupCACACACACACACACACA	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83479302	A A	AAGAAGGA others(11): Show AAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0169 a0001c0001t0005g0169	1	242	0.0041	18	c.147 others(37): Show c.147+58782_147+58783insCCTTCTCCTTCTCCTTCT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83479704	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03098.hp2 HG02818.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0018 a0001c0001t0013 a0001c0001t0018	a0001c0001t0013g0102 a0001c0001t0018g0190 a0001c0001t0013g0102 a0001c0001t0018g0190	2	242	0.0083	18	c.147 others(37): Show c.147+58363_147+58380dupTTCTTTCTTTCTTTCTTT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83479706	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA21309.hp1 HG04199.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0185 a0001c0001t0001g0141 a0001c0001t0001g0185	2	242	0.0083	18	c.147 others(37): Show c.147+58378_147+58379insCTTTCTTTCTTTCTTTCT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83536930	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA20752.hp2 HG03540.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0242 a0001c0001t0002g0224 a0001c0001t0002g0242	2	242	0.0083	18	c.147 others(35): Show c.147+1137_147+1154dupTTTTTTTTTTTTTTTTTT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD4A_chr10_13638706_14335924	13679466	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0114	1	134	0.0075	18	c.111 others(37): Show c.1118-4423_1118-4422insGTGTGTGTGTGTGTGTGT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	15/24			chr10	TogoVar

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