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
FOXP3_chrX_49245438_49269710	49256220	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	299	0.0033	-18	c.648 others(33): Show c.648-436_648-419delCTCTCTCTCTCTCTCTCT	FOXP3	ENSG00000049768.18	transcript	ENST00000376207.10	protein_coding	6/11			chrX	TogoVar
FOXR1_chr11_118966761_118986287	118983537	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01516.hp1 HG02258.hp1 others(12): Show HG01123.hp1 HG01516.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03516.hp1 HG03710.hp2 HG04115.hp1 NA18974.hp2 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0054 a0001c0001t0001g0083 a0002c0003t0001g0035 a0002c0003t0001g0099	15	430	0.0349	-18	c.23 others(29): Show c.2302_*2319delTGTGTGTGTGTGTGTGTG	FOXR1	ENSG00000176302.13	transcript	ENST00000317011.8	protein_coding		2251		chr11	TogoVar
FOXR1_chr11_118966761_118986287	118983575	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19088.hp1 NA19066.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	430	0.0047	-18	c.23 others(29): Show c.2340_*2357delTGTGTGTGTGTGTGTGTT	FOXR1	ENSG00000176302.13	transcript	ENST00000317011.8	protein_coding		2289		chr11	TogoVar
FRA10AC1_chr10_93662883_93707592	93694713	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0036 a0005c0005t0036	a0005c0005t0036g0153 a0005c0005t0036g0153	1	364	0.0028	-18	c.296 others(33): Show c.296+130_296+147delTTTTTTTTTTTTTTTTTT	FRA10AC1	ENSG00000148690.12	transcript	ENST00000359204.5	protein_coding	5/13			chr10	TogoVar
FRAS1_chr4_78052323_78549269	78483768	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00423.hp2 others(35): Show HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00673.hp2 HG00735.hp1 HG01106.hp1 HG01175.hp1 HG01884.hp1 HG02056.hp2 HG02071.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG03139.hp2 HG03225.hp1 HG03239.hp2 HG03491.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18945.hp1 NA18945.hp2 NA18964.hp1 NA18971.hp1 NA18975.hp1 NA18982.hp2 NA19070.hp1 NA19085.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp2	a0002 a0004 a0006 others(15): Show a0002 a0004 a0006 a0007 a0010 a0011 a0016 a0021 a0022 a0024 a0026 a0040 a0053 a0056 a0060 a0063 a0065 a0077	a0002c0003 a0002c0043 a0002c0052 others(20): Show a0002c0003 a0002c0043 a0002c0052 a0004c0005 a0004c0017 a0006c0103 a0007c0042 a0010c0070 a0010c0071 a0010c0073 a0011c0051 a0016c0014 a0021c0023 a0022c0022 a0024c0024 a0026c0029 a0040c0054 a0053c0064 a0056c0025 a0060c0081 a0063c0085 a0065c0079 a0077c0108	a0002c0003t0001 a0002c0003t0003 a0002c0003t0019 others(28): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0019 a0002c0043t0001 a0002c0052t0001 a0004c0005t0001 a0004c0005t0007 a0004c0005t0016 a0004c0017t0007 a0004c0017t0016 a0006c0103t0002 a0007c0042t0002 a0010c0070t0001 a0010c0071t0001 a0010c0073t0001 a0011c0051t0001 a0016c0014t0001 a0016c0014t0007 a0021c0023t0004 a0021c0023t0006 a0022c0022t0018 a0024c0024t0001 a0024c0024t0007 a0026c0029t0001 a0040c0054t0035 a0053c0064t0019 a0056c0025t0001 a0060c0081t0001 a0063c0085t0001 a0065c0079t0007 a0077c0108t0001	a0002c0003t0001g0005 a0002c0003t0001g0017 a0002c0003t0001g0024 others(35): Show a0002c0003t0001g0005 a0002c0003t0001g0017 a0002c0003t0001g0024 a0002c0003t0001g0027 a0002c0003t0001g0040 a0002c0003t0001g0057 a0002c0003t0003g0055 a0002c0003t0019g0023 a0002c0043t0001g0054 a0002c0052t0001g0061 a0004c0005t0001g0115 a0004c0005t0007g0138 a0004c0005t0007g0148 a0004c0005t0016g0126 a0004c0017t0007g0139 a0004c0017t0016g0135 a0006c0103t0002g0092 a0007c0042t0002g0018 a0010c0070t0001g0084 a0010c0071t0001g0003 a0010c0073t0001g0091 a0011c0051t0001g0042 a0016c0014t0001g0071 a0016c0014t0007g0147 a0021c0023t0004g0175 a0021c0023t0006g0097 a0022c0022t0018g0093 a0022c0022t0018g0102 a0024c0024t0001g0113 a0024c0024t0007g0153 a0026c0029t0001g0019 a0040c0054t0035g0049 a0053c0064t0019g0033 a0056c0025t0001g0015 a0060c0081t0001g0087 a0063c0085t0001g0089 a0065c0079t0007g0167 a0077c0108t0001g0078	38	178	0.2135	-18	c.875 others(37): Show c.8752+1235_8752+1252delCTCTCTCTCTCTCTATAT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	58/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FREM1_chr9_14732152_14915428	14774511	ATCTCTCT others(11): Show ATCTCTCTCTCTCTCTCTC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01358.hp2 HG02145.hp1 others(10): Show HG01192.hp1 HG01358.hp2 HG02145.hp1 HG02559.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03486.hp1 NA18947.hp1 NA18978.hp2 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0024 a0027 a0062 a0116	a0001c0011 a0001c0047 a0001c0173 others(8): Show a0001c0011 a0001c0047 a0001c0173 a0002c0005 a0002c0021 a0003c0231 a0024c0024 a0024c0162 a0027c0105 a0062c0169 a0116c0060	a0001c0011t0001 a0001c0047t0005 a0001c0173t0001 others(8): Show a0001c0011t0001 a0001c0047t0005 a0001c0173t0001 a0002c0005t0001 a0002c0021t0001 a0003c0231t0001 a0024c0024t0002 a0024c0162t0001 a0027c0105t0001 a0062c0169t0004 a0116c0060t0003	a0001c0011t0001g0025 a0001c0047t0005g0204 a0001c0173t0001g0065 others(10): Show a0001c0011t0001g0025 a0001c0047t0005g0204 a0001c0173t0001g0065 a0002c0005t0001g0170 a0002c0021t0001g0144 a0003c0231t0001g0045 a0024c0024t0002g0257 a0024c0024t0002g0258 a0024c0024t0002g0259 a0024c0162t0001g0098 a0027c0105t0001g0303 a0062c0169t0004g0181 a0116c0060t0003g0207	13	346	0.0376	-18	c.485 others(37): Show c.4857+1260_4857+1277delGAGAGAGAGAGAGAGAGA	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	25/36			chr9	TogoVar
FREM1_chr9_14732152_14915428	14861139	ATATATAC others(11): Show ATATATACACATATATACG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03927.hp1 HG01261.hp1 HG03927.hp1	a0029 a0073 a0029 a0073	a0029c0037 a0073c0111 a0029c0037 a0073c0111	a0029c0037t0001 a0073c0111t0001 a0029c0037t0001 a0073c0111t0001	a0029c0037t0001g0292 a0073c0111t0001g0118 a0029c0037t0001g0292 a0073c0111t0001g0118	2	346	0.0058	-18	c.330 others(35): Show c.330-1673_330-1656delCGTATATATGTGTATATA	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	3/36			chr9	TogoVar
FREM1_chr9_14732152_14915428	14861262	CATATACA others(11): Show CATATACACATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp2 HG01884.hp1 others(18): Show HG01074.hp2 HG01243.hp2 HG01884.hp1 HG02257.hp1 HG02257.hp2 HG02486.hp2 HG02572.hp2 HG02630.hp2 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02970.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03834.hp2 HG06807.hp2 NA18522.hp1 NA19030.hp2 NA20300.hp2	a0001 a0003 a0005 others(11): Show a0001 a0003 a0005 a0013 a0016 a0024 a0028 a0039 a0049 a0052 a0061 a0078 a0081 a0087	a0001c0011 a0001c0045 a0001c0047 others(17): Show a0001c0011 a0001c0045 a0001c0047 a0001c0048 a0001c0158 a0001c0161 a0003c0069 a0005c0159 a0013c0151 a0016c0094 a0024c0162 a0028c0157 a0028c0174 a0039c0171 a0049c0096 a0052c0164 a0061c0153 a0078c0170 a0081c0160 a0087c0163	a0001c0011t0004 a0001c0045t0005 a0001c0047t0005 others(17): Show a0001c0011t0004 a0001c0045t0005 a0001c0047t0005 a0001c0048t0005 a0001c0158t0001 a0001c0161t0001 a0003c0069t0004 a0005c0159t0001 a0013c0151t0001 a0016c0094t0004 a0024c0162t0001 a0028c0157t0001 a0028c0174t0001 a0039c0171t0001 a0049c0096t0004 a0052c0164t0004 a0061c0153t0001 a0078c0170t0003 a0081c0160t0001 a0087c0163t0001	a0001c0011t0004g0032 a0001c0045t0005g0059 a0001c0045t0005g0206 others(18): Show a0001c0011t0004g0032 a0001c0045t0005g0059 a0001c0045t0005g0206 a0001c0047t0005g0204 a0001c0048t0005g0172 a0001c0158t0001g0060 a0001c0161t0001g0047 a0003c0069t0004g0175 a0005c0159t0001g0056 a0013c0151t0001g0279 a0016c0094t0004g0203 a0024c0162t0001g0098 a0028c0157t0001g0096 a0028c0174t0001g0173 a0039c0171t0001g0088 a0049c0096t0004g0169 a0052c0164t0004g0091 a0061c0153t0001g0209 a0078c0170t0003g0049 a0081c0160t0001g0097 a0087c0163t0001g0095	21	346	0.0607	-18	c.330 others(35): Show c.330-1796_330-1779delATGTATATATGTGTATAT	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	3/36			chr9	TogoVar
FREM1_chr9_14732152_14915428	14861284	TACATATA others(11): Show TACATATATACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02129.hp2 NA18983.hp1 others(1): Show HG02080.hp1 HG02129.hp2 NA18983.hp1 NA19012.hp1	a0003 a0004 a0003 a0004	a0003c0007 a0003c0030 a0004c0004 others(1): Show a0003c0007 a0003c0030 a0004c0004 a0004c0015	a0003c0007t0001 a0003c0030t0001 a0004c0004t0001 others(1): Show a0003c0007t0001 a0003c0030t0001 a0004c0004t0001 a0004c0015t0001	a0003c0007t0001g0244 a0003c0030t0001g0328 a0004c0004t0001g0082 others(1): Show a0003c0007t0001g0244 a0003c0030t0001g0328 a0004c0004t0001g0082 a0004c0015t0001g0078	4	346	0.0116	-18	c.330 others(35): Show c.330-1818_330-1801delGTATATATGTATATATGT	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	3/36			chr9	TogoVar
FREM1_chr9_14732152_14915428	14914072	GTGTGTAT others(11): Show GTGTGTATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG02055.hp1 HG02145.hp1 others(5): Show HG01433.hp1 HG02055.hp1 HG02145.hp1 HG02280.hp2 HG02630.hp2 HG03225.hp1 HG06807.hp2 NA18522.hp1	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0011 a0042 a0110 a0116	a0001c0045 a0001c0158 a0003c0003 others(5): Show a0001c0045 a0001c0158 a0003c0003 a0005c0159 a0011c0012 a0042c0230 a0110c0219 a0116c0060	a0001c0045t0005 a0001c0158t0001 a0003c0003t0003 others(5): Show a0001c0045t0005 a0001c0158t0001 a0003c0003t0003 a0005c0159t0001 a0011c0012t0001 a0042c0230t0001 a0110c0219t0003 a0116c0060t0003	a0001c0045t0005g0059 a0001c0158t0001g0060 a0003c0003t0003g0344 others(5): Show a0001c0045t0005g0059 a0001c0158t0001g0060 a0003c0003t0003g0344 a0005c0159t0001g0056 a0011c0012t0001g0062 a0042c0230t0001g0061 a0110c0219t0003g0058 a0116c0060t0003g0207	8	346	0.0231	-18	c.-44 others(29): Show c.-4444_-4427delTATATATATATATACACA	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding		3645		chr9	TogoVar
FREM2_chr13_38682077_38892131	38754858	AGATGATG others(11): Show AGATGATGATGATGATGAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03453.hp1 NA19240.hp1 HG01884.hp1 HG03453.hp1 NA19240.hp1	a0015 a0033 a0015 a0033	a0015c0031 a0033c0057 a0015c0031 a0033c0057	a0015c0031t0003 a0033c0057t0022 a0015c0031t0003 a0033c0057t0022	a0015c0031t0003g0128 a0015c0031t0003g0129 a0033c0057t0022g0127 a0015c0031t0003g0128 a0015c0031t0003g0129 a0033c0057t0022g0127	3	262	0.0115	-18	c.526 others(37): Show c.5264-9418_5264-9401delGATGATGATGATGATGAT	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
FREM2_chr13_38682077_38892131	38807189	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19010.hp2 HG02559.hp2 NA19010.hp2	a0041 a0049 a0041 a0049	a0041c0079 a0049c0097 a0041c0079 a0049c0097	a0041c0079t0039 a0049c0097t0007 a0041c0079t0039 a0049c0097t0007	a0041c0079t0039g0093 a0049c0097t0007g0006 a0041c0079t0039g0093 a0049c0097t0007g0006	2	262	0.0076	-18	c.601 others(39): Show c.6019+22403_6019+22420delATATATATATATATATAT	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
FREM2_chr13_38682077_38892131	38813464	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0057 a0057	a0057c0076 a0057c0076	a0057c0076t0002 a0057c0076t0002	a0057c0076t0002g0224 a0057c0076t0002g0224	1	262	0.0038	-18	c.601 others(39): Show c.6019+28693_6019+28710delTCTCTCTCTCTCTCTCTC	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
FREM2_chr13_38682077_38892131	38813504	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18944.hp1 NA18960.hp2 others(2): Show HG02083.hp1 NA18944.hp1 NA18960.hp2 NA19002.hp2 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0033 others(2): Show a0001c0001 a0001c0002 a0001c0033 a0002c0011 a0004c0004	a0001c0001t0001 a0001c0002t0005 a0001c0033t0010 others(2): Show a0001c0001t0001 a0001c0002t0005 a0001c0033t0010 a0002c0011t0004 a0004c0004t0005	a0001c0001t0001g0175 a0001c0002t0005g0176 a0001c0033t0010g0136 others(2): Show a0001c0001t0001g0175 a0001c0002t0005g0176 a0001c0033t0010g0136 a0002c0011t0004g0228 a0004c0004t0005g0065	5	262	0.0191	-18	c.601 others(39): Show c.6019+28697_6019+28714delTCTCTCTCTCTCTCCTCT	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23			chr13	TogoVar
FREM2_chr13_38682077_38892131	38813508	CTCTCTCT others(11): Show CTCTCTCTCTCCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0008 a0008	a0008c0050 a0008c0050	a0008c0050t0001 a0008c0050t0001	a0008c0050t0001g0123 a0008c0050t0001g0123	1	262	0.0038	-18	c.601 others(39): Show c.6019+28701_6019+28718delTCTCTCTCTCCTCTCTCT	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23			chr13	TogoVar
FRK_chr6_115926149_116065891	115958802	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19087.hp2 HG03471.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0017 a0001c0001t0004 a0001c0001t0017	a0001c0001t0004g0132 a0001c0001t0017g0194 a0001c0001t0004g0132 a0001c0001t0017g0194	2	274	0.0073	-18	c.800 others(35): Show c.800-2210_800-2193delTTCTTTCTTTCTTTCTTT	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	4/7			chr6	TogoVar
FRK_chr6_115926149_116065891	116000223	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp2 HG02074.hp2 others(3): Show HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02683.hp1 NA19062.hp1 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(2): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0048	a0002c0002t0001g0029 a0002c0002t0002g0067 a0002c0002t0002g0087 others(3): Show a0002c0002t0001g0029 a0002c0002t0002g0067 a0002c0002t0002g0087 a0002c0002t0004g0040 a0002c0002t0005g0062 a0002c0002t0048g0033	6	274	0.0219	-18	c.466 others(35): Show c.466+3636_466+3653delAAAAAAAAAAAAAAAAAA	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	2/7			chr6	TogoVar
FRK_chr6_115926149_116065891	116000244	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTGA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01169.hp2 HG02818.hp2 HG00738.hp2 HG01169.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0034 a0001c0001t0003 a0001c0001t0011 a0001c0001t0034	a0001c0001t0003g0246 a0001c0001t0011g0248 a0001c0001t0034g0198 a0001c0001t0003g0246 a0001c0001t0011g0248 a0001c0001t0034g0198	3	274	0.0110	-18	c.466 others(35): Show c.466+3615_466+3632delTCAAAAAAAAAAAAAAAA	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	2/7			chr6	TogoVar
FRMD3_chr9_83239622_83543401	83416737	TTCTCTCT others(11): Show TTCTCTCTGTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02896.hp1 HG01255.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0042 a0001c0001t0012 a0001c0001t0042	a0001c0001t0012g0159 a0001c0001t0042g0042 a0001c0001t0012g0159 a0001c0001t0042g0042	2	242	0.0083	-18	c.148 others(37): Show c.148-27047_148-27030delGAGAGAGAGACAGAGAGA	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83416745	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0200 a0001c0001t0005g0200	1	242	0.0041	-18	c.148 others(37): Show c.148-27055_148-27038delGAGAGAGAGAGAGAGAGA	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83479686	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02976.hp1 HG03453.hp1 others(1): Show HG02895.hp2 HG02976.hp1 HG03453.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0001t0034 a0001c0001t0035 others(1): Show a0001c0001t0019 a0001c0001t0034 a0001c0001t0035 a0001c0002t0028	a0001c0001t0019g0154 a0001c0001t0034g0002 a0001c0001t0035g0001 others(1): Show a0001c0001t0019g0154 a0001c0001t0034g0002 a0001c0001t0035g0001 a0001c0002t0028g0155	4	242	0.0165	-18	c.147 others(37): Show c.147+58381_147+58398delCTTTCTTTCTTTCTTTCT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83488972	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0126 a0001c0001t0004g0126	1	242	0.0041	-18	c.147 others(37): Show c.147+49095_147+49112delCACACACACACACACACA	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83490786	TCTCTCTC others(11): Show TCTCTCTCTCTCTCACACA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	242	0.0041	-18	c.147 others(37): Show c.147+47281_147+47298delTGTGTGAGAGAGAGAGAG	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83507687	CATACATA others(11): Show CATACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	242	0.0041	-18	c.147 others(37): Show c.147+30380_147+30397delATATATATATATATGTAT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD4A_chr10_13638706_14335924	13848595	AGTGTGTG others(11): Show AGTGTGTGTGTGTACGTGT	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	134	0.0075	-18	c.111 others(37): Show c.111+10234_111+10251delACACGTACACACACACAC	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	3/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13910888	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp2 HG02897.hp2 others(1): Show HG01074.hp1 HG01074.hp2 HG02897.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007	a0001c0001t0003g0089 a0001c0001t0005g0030 a0001c0001t0005g0119 others(1): Show a0001c0001t0003g0089 a0001c0001t0005g0030 a0001c0001t0005g0119 a0001c0001t0007g0094	4	134	0.0299	-18	c.46- others(35): Show c.46-51994_46-51977delTTTTTTTTTTTTTTTTTT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14055444	CACACACA others(11): Show CACACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	134	0.0075	-18	c.46- others(37): Show c.46-196550_46-196533delTTGTGTGTGTGTGTGTGT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14089626	AAAACAAA others(11): Show AAAACAAAAAAAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0098 a0001c0001t0009g0098	1	134	0.0075	-18	c.46- others(37): Show c.46-230732_46-230715delGTTTGTTTTTTTTTGTTT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14126831	TCAGGGAA others(11): Show TCAGGGAAAAAATGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00738.hp1 others(71): Show HG00099.hp2 HG00408.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01975.hp1 HG01975.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18957.hp1 NA18971.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19030.hp2 NA19043.hp1 NA19065.hp1 NA19074.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0011 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0021 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0002t0001 a0001c0002t0004 a0001c0002t0007 a0001c0002t0017 a0001c0002t0024 a0001c0003t0001 a0001c0003t0003 a0001c0005t0003 a0001c0008t0001 a0001c0009t0002 a0001c0011t0002 a0002c0004t0010	a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0031 others(71): Show a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0062 a0001c0001t0001g0081 a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0132 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0054 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0100 a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0003g0021 a0001c0001t0003g0091 a0001c0001t0003g0114 a0001c0001t0003g0122 a0001c0001t0004g0052 a0001c0001t0004g0073 a0001c0001t0004g0112 a0001c0001t0004g0130 a0001c0001t0005g0023 a0001c0001t0005g0056 a0001c0001t0005g0109 a0001c0001t0005g0119 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0006g0035 a0001c0001t0006g0044 a0001c0001t0006g0085 a0001c0001t0006g0088 a0001c0001t0006g0113 a0001c0001t0007g0060 a0001c0001t0007g0094 a0001c0001t0007g0107 a0001c0001t0008g0102 a0001c0001t0008g0106 a0001c0001t0009g0055 a0001c0001t0011g0018 a0001c0001t0011g0032 a0001c0001t0013g0074 a0001c0001t0019g0064 a0001c0001t0021g0059 a0001c0001t0027g0097 a0001c0001t0028g0134 a0001c0001t0029g0133 a0001c0002t0001g0116 a0001c0002t0004g0108 a0001c0002t0007g0048 a0001c0002t0017g0131 a0001c0002t0024g0057 a0001c0003t0001g0010 a0001c0003t0001g0078 a0001c0003t0001g0105 a0001c0003t0003g0080 a0001c0005t0003g0003 a0001c0008t0001g0061 a0001c0009t0002g0006 a0001c0011t0002g0101 a0002c0004t0010g0053	74	134	0.5522	-18	c.45+ others(37): Show c.45+203209_45+203226delGTACACATTTTTTCCCTG	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14127962	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCCT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03130.hp2 NA21309.hp1 HG03041.hp1 HG03130.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0005 a0001c0003t0001 a0001c0008t0001 a0001c0001t0005 a0001c0003t0001 a0001c0008t0001	a0001c0001t0005g0023 a0001c0003t0001g0071 a0001c0008t0001g0061 a0001c0001t0005g0023 a0001c0003t0001g0071 a0001c0008t0001g0061	3	134	0.0224	-18	c.45+ others(37): Show c.45+202078_45+202095delAGGAAAGAAAGAAAGAAA	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14127964	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01361.hp2 HG03139.hp1 others(1): Show HG00408.hp2 HG01361.hp2 HG03139.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0019	a0001c0001t0002g0054 a0001c0001t0004g0112 a0001c0001t0006g0085 others(1): Show a0001c0001t0002g0054 a0001c0001t0004g0112 a0001c0001t0006g0085 a0001c0001t0019g0064	4	134	0.0299	-18	c.45+ others(37): Show c.45+202076_45+202093delGAAGGAAAGAAAGAAAGA	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14129391	TATATATA others(11): Show TATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0076 a0002c0004t0010g0076	1	134	0.0075	-18	c.45+ others(37): Show c.45+200649_45+200666delTTATATATATATATATAT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4B_chr3_69163782_69391088	69242478	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03471.hp1 NA19043.hp1 HG00280.hp2 HG03471.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0014 a0001c0001 a0002c0014	a0001c0001t0002 a0002c0014t0016 a0001c0001t0002 a0002c0014t0016	a0001c0001t0002g0020 a0001c0001t0002g0129 a0002c0014t0016g0068 a0001c0001t0002g0020 a0001c0001t0002g0129 a0002c0014t0016g0068	3	224	0.0134	-18	c.581 others(35): Show c.581+6730_581+6747delAAAAAAAAAAAAAAAAAA	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	7/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69253402	CTGTGGAA others(11): Show CTGTGGAAAAATGAATCCA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0016 a0002c0014t0016	a0002c0014t0016g0068 a0002c0014t0016g0068	1	224	0.0045	-18	c.502 others(35): Show c.502-3321_502-3304delTGGATTCATTTTTCCACA	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69265267	AAAATATA others(11): Show AAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01515.hp1 HG02258.hp1 others(4): Show HG00280.hp1 HG01515.hp1 HG02258.hp1 HG02735.hp2 HG02895.hp2 HG03834.hp2 NA20805.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0013	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0013c0021	a0001c0001t0002 a0001c0001t0022 a0001c0001t0025 others(4): Show a0001c0001t0002 a0001c0001t0022 a0001c0001t0025 a0003c0003t0006 a0003c0003t0031 a0004c0004t0019 a0013c0021t0022	a0001c0001t0002g0054 a0001c0001t0022g0156 a0001c0001t0025g0099 others(4): Show a0001c0001t0002g0054 a0001c0001t0022g0156 a0001c0001t0025g0099 a0003c0003t0006g0048 a0003c0003t0031g0072 a0004c0004t0019g0149 a0013c0021t0022g0162	7	224	0.0313	-18	c.502 others(37): Show c.502-15186_502-15169delATATATATATATATATTT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69265269	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00438.hp1 others(58): Show HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00639.hp1 HG01070.hp1 HG01071.hp1 HG01255.hp2 HG01257.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG02015.hp2 HG02040.hp1 HG02148.hp1 HG02165.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 NA18522.hp2 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18961.hp1 NA18966.hp1 NA18969.hp1 NA18979.hp1 NA18979.hp2 NA18986.hp1 NA18990.hp1 NA19002.hp1 NA19004.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19063.hp1 NA20129.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0011 a0015	a0001c0001 a0001c0008 a0001c0009 others(7): Show a0001c0001 a0001c0008 a0001c0009 a0002c0002 a0002c0014 a0003c0003 a0003c0005 a0003c0012 a0011c0024 a0015c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0015 a0001c0001t0026 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0008t0005 a0001c0009t0001 a0001c0009t0024 a0002c0002t0044 a0002c0002t0053 a0002c0014t0001 a0003c0003t0001 a0003c0003t0003 a0003c0003t0006 a0003c0003t0035 a0003c0005t0007 a0003c0005t0009 a0003c0012t0012 a0003c0012t0017 a0011c0024t0005 a0015c0023t0046	a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0087 others(58): Show a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0123 a0001c0001t0001g0143 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0195 a0001c0001t0001g0210 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0002g0020 a0001c0001t0002g0083 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0121 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0177 a0001c0001t0002g0190 a0001c0001t0002g0221 a0001c0001t0010g0157 a0001c0001t0010g0161 a0001c0001t0010g0196 a0001c0001t0010g0219 a0001c0001t0015g0095 a0001c0001t0026g0131 a0001c0001t0040g0061 a0001c0001t0042g0070 a0001c0001t0043g0185 a0001c0001t0048g0155 a0001c0001t0050g0111 a0001c0001t0051g0179 a0001c0001t0052g0032 a0001c0008t0005g0040 a0001c0008t0005g0046 a0001c0008t0005g0119 a0001c0009t0001g0082 a0001c0009t0001g0220 a0001c0009t0024g0212 a0001c0009t0024g0213 a0002c0002t0044g0019 a0002c0002t0053g0181 a0002c0014t0001g0014 a0003c0003t0001g0197 a0003c0003t0003g0108 a0003c0003t0003g0144 a0003c0003t0006g0141 a0003c0003t0006g0183 a0003c0003t0006g0184 a0003c0003t0035g0109 a0003c0005t0007g0022 a0003c0005t0007g0052 a0003c0005t0009g0207 a0003c0012t0012g0133 a0003c0012t0017g0049 a0011c0024t0005g0178 a0015c0023t0046g0071	61	224	0.2723	-18	c.502 others(37): Show c.502-15188_502-15171delATATATATATATATATAT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69267632	TATATAGA others(11): Show TATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0007 a0004c0006t0007	a0004c0006t0007g0051 a0004c0006t0007g0051	1	224	0.0045	-18	c.502 others(37): Show c.502-17551_502-17534delCTCTCTCTCTCTCTATAT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69267634	TATAGAGA others(11): Show TATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0016 a0002c0014t0016	a0002c0014t0016g0198 a0002c0014t0016g0198	1	224	0.0045	-18	c.502 others(37): Show c.502-17553_502-17536delCTCTCTCTCTCTCTCTAT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69323608	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG02559.hp1 others(7): Show HG01243.hp2 HG02145.hp2 HG02559.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp1 HG03453.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0016	a0001c0001 a0001c0008 a0001c0025 others(4): Show a0001c0001 a0001c0008 a0001c0025 a0002c0002 a0003c0005 a0004c0006 a0016c0027	a0001c0001t0002 a0001c0001t0029 a0001c0001t0030 others(7): Show a0001c0001t0002 a0001c0001t0029 a0001c0001t0030 a0001c0008t0028 a0001c0025t0005 a0002c0002t0013 a0003c0005t0009 a0003c0005t0020 a0004c0006t0007 a0016c0027t0012	a0001c0001t0002g0026 a0001c0001t0029g0002 a0001c0001t0030g0067 others(7): Show a0001c0001t0002g0026 a0001c0001t0029g0002 a0001c0001t0030g0067 a0001c0008t0028g0001 a0001c0025t0005g0043 a0002c0002t0013g0039 a0003c0005t0009g0193 a0003c0005t0020g0138 a0004c0006t0007g0038 a0016c0027t0012g0077	10	224	0.0446	-18	c.163 others(37): Show c.163-10109_163-10092delTATATATATATATATATA	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	1/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69375246	TCCATCCA others(11): Show TCCATCCATCCACCCCATC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG00639.hp2 others(52): Show HG00423.hp2 HG00609.hp2 HG00639.hp2 HG01192.hp1 HG01515.hp2 HG01891.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02258.hp1 HG02559.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 HG03654.hp2 HG03834.hp1 HG03927.hp2 HG04199.hp2 NA18906.hp2 NA18945.hp2 NA18960.hp2 NA18961.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18977.hp1 NA18979.hp2 NA18984.hp2 NA18986.hp1 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp2 NA19054.hp1 NA19063.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0008 a0001c0009 others(10): Show a0001c0001 a0001c0008 a0001c0009 a0002c0002 a0002c0011 a0002c0014 a0003c0003 a0003c0005 a0003c0012 a0004c0004 a0004c0006 a0004c0010 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0015 a0001c0001t0025 a0001c0001t0029 a0001c0001t0050 a0001c0008t0005 a0001c0008t0028 a0001c0009t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0021 a0002c0002t0044 a0002c0002t0045 a0002c0002t0053 a0002c0011t0013 a0002c0014t0016 a0003c0003t0003 a0003c0003t0006 a0003c0003t0031 a0003c0003t0035 a0003c0003t0054 a0003c0005t0009 a0003c0012t0017 a0004c0004t0003 a0004c0004t0038 a0004c0004t0039 a0004c0006t0007 a0004c0010t0011 a0005c0007t0004 a0005c0007t0014	a0001c0001t0001g0044 a0001c0001t0001g0102 a0001c0001t0001g0103 others(52): Show a0001c0001t0001g0044 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0166 a0001c0001t0001g0195 a0001c0001t0002g0045 a0001c0001t0002g0112 a0001c0001t0002g0169 a0001c0001t0002g0174 a0001c0001t0002g0221 a0001c0001t0010g0219 a0001c0001t0015g0211 a0001c0001t0025g0176 a0001c0001t0029g0002 a0001c0001t0050g0111 a0001c0008t0005g0046 a0001c0008t0005g0194 a0001c0008t0028g0001 a0001c0009t0001g0220 a0002c0002t0001g0104 a0002c0002t0001g0117 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0021g0182 a0002c0002t0044g0019 a0002c0002t0045g0188 a0002c0002t0053g0181 a0002c0011t0013g0101 a0002c0014t0016g0068 a0003c0003t0003g0107 a0003c0003t0003g0108 a0003c0003t0003g0125 a0003c0003t0003g0204 a0003c0003t0006g0048 a0003c0003t0006g0183 a0003c0003t0006g0184 a0003c0003t0031g0072 a0003c0003t0035g0109 a0003c0003t0054g0089 a0003c0005t0009g0076 a0003c0012t0017g0049 a0004c0004t0003g0106 a0004c0004t0003g0168 a0004c0004t0003g0223 a0004c0004t0038g0118 a0004c0004t0039g0173 a0004c0006t0007g0051 a0004c0010t0011g0170 a0004c0010t0011g0180 a0005c0007t0004g0209 a0005c0007t0014g0023	55	224	0.2455	-18	c.162 others(37): Show c.162+10564_162+10581delGATGGGGTGGATGGATGG	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	1/22			chr3	TogoVar
FRMD5_chr15_43865764_44200271	44041711	AAAGATGT others(11): Show AAAGATGTTCTTTGAAACG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	146	0.0069	-18	c.103 others(39): Show c.103-117420_103-117403delCGTTTCAAAGAACATCTT	FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	1/13			chr15	TogoVar
FRMD5_chr15_43865764_44200271	44087737	TATCATCA others(11): Show TATCATCATCATCATCATC	T T	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA20300.hp1 NA19063.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0079 a0001c0002t0001g0140 a0001c0001t0001g0079 a0001c0002t0001g0140	2	146	0.0137	-18	c.102 others(39): Show c.102+107198_102+107215delGATGATGATGATGATGAT	FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	1/13			chr15	TogoVar
FRMPD1_chr9_37645954_37751904	37741450	GACACACA others(11): Show GACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG01070.hp1 others(36): Show HG00438.hp2 HG00621.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01192.hp2 HG01361.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG02004.hp1 HG02040.hp2 HG02071.hp1 HG02129.hp2 HG02451.hp1 HG02559.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03453.hp1 HG03491.hp2 HG03516.hp1 HG03669.hp2 HG03927.hp1 HG04204.hp1 HG04228.hp1 NA18960.hp1 NA18966.hp1 NA18970.hp2 NA18974.hp2 NA18980.hp1 NA18986.hp2 NA18992.hp1 NA19004.hp1 NA19055.hp2 NA19076.hp2 NA19080.hp1 NA19086.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0015 a0020 a0021 a0024	a0001c0003 a0002c0007 a0002c0017 others(7): Show a0001c0003 a0002c0007 a0002c0017 a0003c0008 a0004c0010 a0005c0021 a0015c0055 a0020c0034 a0021c0035 a0024c0046	a0001c0003t0001 a0002c0007t0001 a0002c0017t0001 others(7): Show a0001c0003t0001 a0002c0007t0001 a0002c0017t0001 a0003c0008t0001 a0004c0010t0001 a0005c0021t0001 a0015c0055t0001 a0020c0034t0001 a0021c0035t0001 a0024c0046t0001	a0001c0003t0001g0033 a0001c0003t0001g0056 a0001c0003t0001g0108 others(36): Show a0001c0003t0001g0033 a0001c0003t0001g0056 a0001c0003t0001g0108 a0001c0003t0001g0117 a0001c0003t0001g0120 a0001c0003t0001g0123 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0157 a0001c0003t0001g0180 a0001c0003t0001g0184 a0001c0003t0001g0197 a0001c0003t0001g0220 a0001c0003t0001g0290 a0001c0003t0001g0306 a0002c0007t0001g0054 a0002c0007t0001g0097 a0002c0007t0001g0114 a0002c0007t0001g0160 a0002c0007t0001g0236 a0002c0007t0001g0302 a0002c0017t0001g0129 a0003c0008t0001g0005 a0003c0008t0001g0047 a0003c0008t0001g0049 a0003c0008t0001g0053 a0003c0008t0001g0230 a0003c0008t0001g0241 a0003c0008t0001g0243 a0003c0008t0001g0308 a0003c0008t0001g0309 a0004c0010t0001g0162 a0005c0021t0001g0135 a0015c0055t0001g0280 a0020c0034t0001g0285 a0021c0035t0001g0163 a0024c0046t0001g0299	39	334	0.1168	-18	c.235 others(35): Show c.2356+591_2356+608delACACACACACACACACAC	FRMPD1	ENSG00000070601.10	transcript	ENST00000377765.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
FRMPD1_chr9_37645954_37751904	37743520	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG02486.hp1 others(14): Show HG01109.hp2 HG01243.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp2 NA19086.hp2 NA20129.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0010 a0017	a0001c0002 a0001c0003 a0002c0007 others(5): Show a0001c0002 a0001c0003 a0002c0007 a0004c0010 a0005c0018 a0005c0021 a0010c0024 a0017c0027	a0001c0002t0001 a0001c0003t0001 a0002c0007t0001 others(5): Show a0001c0002t0001 a0001c0003t0001 a0002c0007t0001 a0004c0010t0001 a0005c0018t0001 a0005c0021t0001 a0010c0024t0001 a0017c0027t0001	a0001c0002t0001g0038 a0001c0002t0001g0058 a0001c0003t0001g0272 others(13): Show a0001c0002t0001g0038 a0001c0002t0001g0058 a0001c0003t0001g0272 a0001c0003t0001g0279 a0002c0007t0001g0114 a0004c0010t0001g0001 a0004c0010t0001g0266 a0004c0010t0001g0320 a0004c0010t0001g0321 a0005c0018t0001g0261 a0005c0018t0001g0262 a0005c0018t0001g0264 a0005c0021t0001g0265 a0010c0024t0001g0034 a0010c0024t0001g0035 a0017c0027t0001g0052	17	334	0.0509	-18	c.235 others(35): Show c.2357-847_2357-830delTTTTTTTTTTTTTTTTTT	FRMPD1	ENSG00000070601.10	transcript	ENST00000377765.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
FRMPD2_chr10_48151562_48279696	48208044	GTCATCAT others(11): Show GTCATCATCATCATTATCA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	250	0.0040	-18	c.161 others(37): Show c.1612-1129_1612-1112delTGATAATGATGATGATGA	FRMPD2	ENSG00000170324.21	transcript	ENST00000374201.8	protein_coding	13/28			chr10	TogoVar
FRMPD3_chrX_107444652_107610251	107459884	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp1 HG02886.hp2 HG02257.hp1 HG02486.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0018t0001 a0001c0001t0001 a0001c0018t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0018t0001g0012 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0018t0001g0012	3	183	0.0164	-18	c.-8+ others(33): Show c.-8+9910_-8+9927delACACACACACACACACAC	FRMPD3	ENSG00000147234.11	transcript	ENST00000683843.1	protein_coding	1/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12560742	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG01884.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0045 a0001c0001t0002g0024 a0001c0001t0001g0045 a0001c0001t0002g0024	2	174	0.0115	-18	c.159 others(37): Show c.159-48951_159-48934delTTTTTTTTTTTTTTTTTT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12720039	GGAAAGGA others(11): Show GGAAAGGAAAGGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18990.hp1 HG03225.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0002 a0001c0001t0002 a0001c0008t0002	a0001c0001t0002g0103 a0001c0008t0002g0018 a0001c0001t0002g0103 a0001c0008t0002g0018	2	174	0.0115	-18	c.396 others(35): Show c.3965-489_3965-472delGAAAGGAAAGAAAGAAAG	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	16/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRRS1L_chr9_109125293_109172249	109152803	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG01081.hp1 others(34): Show HG00408.hp1 HG00609.hp1 HG01081.hp1 HG01099.hp1 HG01168.hp1 HG01169.hp1 HG01256.hp2 HG01257.hp2 HG01934.hp1 HG02004.hp2 HG02083.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp2 HG03688.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18956.hp2 NA18957.hp1 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18979.hp1 NA18985.hp2 NA18987.hp1 NA18988.hp2 NA18990.hp2 NA18994.hp2 NA18997.hp1 NA18999.hp2 NA19012.hp1 NA19082.hp2 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0007 a0001c0001t0044 others(3): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0004t0005	a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033 others(21): Show a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0118 a0001c0001t0005g0121 a0001c0001t0005g0124 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0001t0005g0290 a0001c0001t0007g0003 a0001c0001t0007g0119 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0125 a0001c0001t0007g0126 a0001c0001t0007g0132 a0001c0001t0007g0137 a0001c0001t0007g0153 a0001c0001t0044g0120 a0001c0001t0045g0133 a0001c0001t0046g0289 a0001c0004t0005g0127	37	430	0.0861	-18	c.239 others(35): Show c.239-3101_239-3084delTTTTTTTTTTTTTTTTTT	FRRS1L	ENSG00000260230.5	transcript	ENST00000561981.5	protein_coding	1/4			chr9	TogoVar
FRS2_chr12_69465388_69584793	69557620	GCGCGCGC others(11): Show GCGCGCGCGCGCGCGCGCA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03130.hp2 HG03471.hp1 HG03041.hp1 HG03130.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282	3	342	0.0088	-18	c.-12 others(37): Show c.-121-4559_-121-4542delCGCGCGCGCGCGCGCGCA	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	3/8			chr12	TogoVar

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