Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
FOXN3_chr14_89151177_89422233	89361784	C C	CCACCTCC others(29): Show CCACCTCCACCACCACCTCCACCACTACCACCTCCAG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02273.hp2 NA19088.hp2 HG02056.hp1 HG02273.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0036 a0001c0001t0047 a0001c0001t0007 a0001c0001t0036 a0001c0001t0047	a0001c0001t0007g0144 a0001c0001t0036g0011 a0001c0001t0047g0116 a0001c0001t0007g0144 a0001c0001t0036g0011 a0001c0001t0047g0116	3	230	0.0130	36	c.544 others(55): Show c.544-10977_544-10976insCTGGAGGTGGTAGTGGTGGAGGTGGT GGTGGAGGTG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361788	C C	CACCTCCA others(29): Show CACCTCCAGCACCACCACCACCACCACCTCCAGCACT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0205 a0001c0001t0007g0205	1	230	0.0044	36	c.544 others(55): Show c.544-10981_544-10980insAGTGCTGGAGGTGGTGGTGGTGGTGG TGCTGGAGGT		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361858	T T	TCCACCAC others(29): Show TCCACCACCACCTCCACCACCACCACCTCCAGCACCA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	230	0.0044	36	c.544 others(55): Show c.544-11051_544-11050insTGGTGCTGGAGGTGGTGGTGGTGGAG GTGGTGGTGG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361962	C C	CACCTCCA others(29): Show CACCTCCACCACCACCTCCACCACCACCTCCAGCACT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	230	0.0044	36	c.544 others(55): Show c.544-11155_544-11154insAGTGCTGGAGGTGGTGGTGGAGGTGG TGGTGGAGGT		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362175	C C	CACCTCCA others(29): Show CACCTCCACCACCACCTCCACCACCACCTCCAGCACT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp2 NA19078.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0079 a0001c0001t0055 a0001c0001t0079	a0001c0001t0055g0028 a0001c0001t0079g0047 a0001c0001t0055g0028 a0001c0001t0079g0047	2	230	0.0087	36	c.544 others(55): Show c.544-11368_544-11367insAGTGCTGGAGGTGGTGGTGGAGGTGG TGGTGGAGGT		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362213	C C	CCACCTCC others(29): Show CCACCTCCACCACCACCTCCACCACTACCACCTCCAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0145 a0001c0001t0012g0145	1	230	0.0044	36	c.544 others(55): Show c.544-11406_544-11405insCTGGAGGTGGTAGTGGTGGAGGTGGT GGTGGAGGTG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362698	A A	ACCACCAC others(29): Show ACCACCACCATCTCCACCACCACCTCCACCACCATCT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	230	0.0044	36	c.544 others(55): Show c.544-11891_544-11890insAGATGGTGGTGGAGGTGGTGGTGGAG ATGGTGGTGG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXP1_chr3_70949708_71588728	71158105	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0058 a0001c0001t0054g0058	1	96	0.0104	36	c.180 others(55): Show c.180+40096_180+40097insCCCTCCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT		FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	6/20						chr3	TogoVar
FOXP1_chr3_70949708_71588728	71406403	G G	GTATGTAT others(29): Show GTATGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02922.hp1 HG01109.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0061 a0001c0001t0048 a0001c0001t0061	a0001c0001t0048g0031 a0001c0001t0061g0077 a0001c0001t0048g0031 a0001c0001t0061g0077	2	96	0.0208	36	c.-16 others(57): Show c.-167-47160_-167-47159insTATATATATATATATATATATATA TATATATACATA		FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20						chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435847	C C	CGGAGGGA others(29): Show CGGAGGGAGGGAGGAGGGGACGGAGGGAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0093 a0001c0001t0056g0093	1	96	0.0104	36	c.-16 others(57): Show c.-168+57578_-168+57579insCTTCCTCCCTCCCTCCGTCCCCTC CTCCCTCCCTCC		FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20						chr3	TogoVar
FOXP2_chr7_114409815_114698765	114587879	A A	ATATATAT others(29): Show ATATATATATATATATATATAAAGGTGCCAATATAAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18957.hp2 HG02523.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0030 a0001c0001t0002 a0001c0001t0030	a0001c0001t0002g0029 a0001c0001t0030g0068 a0001c0001t0002g0029 a0001c0001t0030g0068	2	174	0.0115	36	c.259 others(55): Show c.259-40661_259-40660insTATATATATATATATATATAAAGGTG CCAATATAAT		FOXP2	ENSG00000128573.28	transcript	ENST00000350908.9	protein_coding	3/16						chr7	TogoVar
FOXRED2_chr22_36482190_36512040	36484901	A A	ATATTAGC others(29): Show ATATTAGCTGATTTGCTTTTATATATGACTTTTGTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	320	0.0031	36	c.51 others(47): Show c.5106_*5107insGAACAAAAGTCATATATAAAAGCAAATCAGCTAA TA		FOXRED2	ENSG00000100350.16	transcript	ENST00000397224.9	protein_coding					2288		chr22	TogoVar
FRAS1_chr4_78052323_78549269	78200871	A A	ATATATAT others(29): Show ATATATATATATATATATATGTATATATATAAATACG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0018 a0018	a0018c0095 a0018c0095	a0018c0095t0036 a0018c0095t0036	a0018c0095t0036g0116 a0018c0095t0036g0116	1	178	0.0056	36	c.109 others(55): Show c.109-36624_109-36623insATATGTATATATATAAATACGTATAT ATATATATAT		FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	2/73					INFO_REALIGN_3_PRIME	chr4	TogoVar
FRAS1_chr4_78052323_78549269	78200873	A A	ATATATAT others(29): Show ATATATATATATATATATATGTATATATATAAATACG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02818.hp2 HG03453.hp2 HG02280.hp1 HG02818.hp2 HG03453.hp2	a0006 a0007 a0094 a0006 a0007 a0094	a0006c0016 a0007c0041 a0094c0122 a0006c0016 a0007c0041 a0094c0122	a0006c0016t0008 a0007c0041t0054 a0094c0122t0008 a0006c0016t0008 a0007c0041t0054 a0094c0122t0008	a0006c0016t0008g0111 a0007c0041t0054g0009 a0094c0122t0008g0081 a0006c0016t0008g0111 a0007c0041t0054g0009 a0094c0122t0008g0081	3	178	0.0169	36	c.109 others(55): Show c.109-36624_109-36623insATATATGTATATATATAAATACGTAT ATATATATAT		FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	2/73					INFO_REALIGN_3_PRIME	chr4	TogoVar
FRAS1_chr4_78052323_78549269	78249064	C C	CATATATA others(29): Show CATATATATATATATATGCATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03041.hp1 HG03710.hp1 others(1): Show HG02698.hp1 HG03041.hp1 HG03710.hp1 NA19240.hp1	a0001 a0004 a0016 others(1): Show a0001 a0004 a0016 a0098	a0001c0001 a0004c0089 a0016c0014 others(1): Show a0001c0001 a0004c0089 a0016c0014 a0098c0068	a0001c0001t0002 a0004c0089t0026 a0016c0014t0007 others(1): Show a0001c0001t0002 a0004c0089t0026 a0016c0014t0007 a0098c0068t0013	a0001c0001t0002g0088 a0004c0089t0026g0151 a0016c0014t0007g0147 others(1): Show a0001c0001t0002g0088 a0004c0089t0026g0151 a0016c0014t0007g0147 a0098c0068t0013g0165	4	178	0.0225	36	c.310 others(53): Show c.310-3312_310-3311insGCATATATATATATATATATATATATAT ATATATAT		FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	4/73					INFO_REALIGN_3_PRIME	chr4	TogoVar
FREM1_chr9_14732152_14915428	14759518	C C	CAATAATA others(29): Show CAATAATAATAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0093 a0093	a0093c0119 a0093c0119	a0093c0119t0001 a0093c0119t0001	a0093c0119t0001g0260 a0093c0119t0001g0260	1	346	0.0029	36	c.533 others(53): Show c.5334+253_5334+254insATTATTATTATTATTATTATTATTATTA TTATTATT		FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	28/36						chr9	TogoVar
FREM1_chr9_14732152_14915428	14778681	G G	GAAGGGAA others(29): Show GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0023 a0023	a0023c0214 a0023c0214	a0023c0214t0001 a0023c0214t0001	a0023c0214t0001g0129 a0023c0214t0001g0129	1	346	0.0029	36	c.444 others(55): Show c.4443-2479_4443-2478insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTT		FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	24/36						chr9	TogoVar
FREM1_chr9_14732152_14915428	14847400	A A	AGAAGGAA others(29): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03710.hp1 HG03710.hp2 others(3): Show HG00438.hp1 HG03710.hp1 HG03710.hp2 NA18945.hp1 NA18977.hp2 NA18994.hp1	a0004 a0010 a0014 others(3): Show a0004 a0010 a0014 a0019 a0026 a0058	a0004c0067 a0010c0027 a0014c0178 others(3): Show a0004c0067 a0010c0027 a0014c0178 a0019c0155 a0026c0068 a0058c0077	a0004c0067t0002 a0010c0027t0002 a0014c0178t0001 others(3): Show a0004c0067t0002 a0010c0027t0002 a0014c0178t0001 a0019c0155t0001 a0026c0068t0002 a0058c0077t0001	a0004c0067t0002g0127 a0010c0027t0002g0267 a0014c0178t0001g0309 others(3): Show a0004c0067t0002g0127 a0010c0027t0002g0267 a0014c0178t0001g0309 a0019c0155t0001g0021 a0026c0068t0002g0016 a0058c0077t0001g0152	6	346	0.0173	36	c.126 others(55): Show c.1261+1264_1261+1265insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTC		FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	7/36						chr9	TogoVar
FREM1_chr9_14732152_14915428	14847426	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01346.hp2 HG01109.hp2 HG01346.hp2	a0009 a0047 a0009 a0047	a0009c0168 a0047c0098 a0009c0168 a0047c0098	a0009c0168t0004 a0047c0098t0001 a0009c0168t0004 a0047c0098t0001	a0009c0168t0004g0240 a0047c0098t0001g0223 a0009c0168t0004g0240 a0047c0098t0001g0223	2	346	0.0058	36	c.126 others(55): Show c.1261+1238_1261+1239insCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT		FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	7/36						chr9	TogoVar
FREM1_chr9_14732152_14915428	14847426	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0342 a0003c0003t0001g0342	1	346	0.0029	36	c.126 others(55): Show c.1261+1238_1261+1239insCCCTCCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT		FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	7/36						chr9	TogoVar
FRMD1_chr6_168048095_168084212	168078540	G G	GGCCCTGC others(29): Show GGCCCTGCTCACCCCCACGGCTCTGCTCACCCTCACA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02056.hp2 HG02071.hp2 others(23): Show HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02145.hp1 HG02886.hp2 HG03688.hp2 NA18940.hp2 NA18948.hp1 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18971.hp1 NA18980.hp1 NA18993.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19064.hp2 NA19068.hp1 NA19074.hp2 NA19080.hp1 NA19085.hp1 NA19088.hp2 NA20752.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0005 a0002c0014 others(1): Show a0001c0001 a0001c0005 a0002c0014 a0008c0026	a0001c0001t0001 a0001c0001t0040 a0001c0005t0005 others(4): Show a0001c0001t0001 a0001c0001t0040 a0001c0005t0005 a0001c0005t0015 a0001c0005t0029 a0002c0014t0031 a0008c0026t0026	a0001c0001t0001g0047 a0001c0001t0001g0190 a0001c0001t0001g0192 others(17): Show a0001c0001t0001g0047 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0040g0191 a0001c0005t0005g0017 a0001c0005t0005g0018 a0001c0005t0005g0029 a0001c0005t0005g0062 a0001c0005t0005g0063 a0001c0005t0005g0064 a0001c0005t0005g0066 a0001c0005t0005g0068 a0001c0005t0005g0069 a0001c0005t0005g0073 a0001c0005t0005g0074 a0001c0005t0005g0075 a0001c0005t0015g0067 a0001c0005t0029g0065 a0002c0014t0031g0077 a0008c0026t0026g0076	26	402	0.0647	36	c.213 others(51): Show c.213+306_213+341dupTGTGAGGGTGAGCAGAGCCGTGGGGGTGAG CAGGGC		FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10						chr6	TogoVar
FRMD1_chr6_168048095_168084212	168078576	A A	AGCCCTGC others(29): Show AGCCCTGCTCACCCCCACGGCTCTGCTCACCCTCACG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG02300.hp2 HG01515.hp2 HG01517.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0043 a0001c0001t0001 a0001c0001t0043	a0001c0001t0001g0033 a0001c0001t0043g0197 a0001c0001t0001g0033 a0001c0001t0043g0197	3	402	0.0075	36	c.213 others(51): Show c.213+270_213+305dupCGTGAGGGTGAGCAGAGCCGTGGGGGTGAG CAGGGC		FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10						chr6	TogoVar
FRMD1_chr6_168048095_168084212	168078608	T T	TCACGGCC others(29): Show TCACGGCCCTGCTCACCCCCACAGCCCTGCTCACCCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02083.hp2 HG02280.hp2 others(2): Show HG00639.hp2 HG02083.hp2 HG02280.hp2 HG03710.hp2 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0006 a0001c0001t0001 a0003c0006t0006	a0001c0001t0001g0194 a0003c0006t0006g0030 a0003c0006t0006g0081 others(1): Show a0001c0001t0001g0194 a0003c0006t0006g0030 a0003c0006t0006g0081 a0003c0006t0006g0092	5	402	0.0124	36	c.213 others(51): Show c.213+273_213+274insGGGGTGAGCAGGGCTGTGGGGGTGAGCAGG GCCGTG		FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10						chr6	TogoVar
FRMD1_chr6_168048095_168084212	168078634	T T	TTGCTCAC others(29): Show TTGCTCACCCCCACGGCCCTGCTCACCCCCACAGCCC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0080 a0003c0006t0006g0080	1	402	0.0025	36	c.213 others(51): Show c.213+247_213+248insGGGCTGTGGGGGTGAGCAGGGCCGTGGGGG TGAGCA		FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10						chr6	TogoVar
FRMD4A_chr10_13638706_14335924	13750085	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 NA19009.hp1 HG01256.hp1 HG01258.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0007g0107 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0007g0107	3	134	0.0224	36	c.465 others(53): Show c.465-2267_465-2266insCATTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	8/24						chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13750089	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03688.hp2 HG02738.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0014 a0001c0001t0002 a0001c0002t0014	a0001c0001t0002g0007 a0001c0002t0014g0082 a0001c0001t0002g0007 a0001c0002t0014g0082	2	134	0.0149	36	c.465 others(53): Show c.465-2271_465-2270insCATTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	8/24						chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13750093	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	134	0.0075	36	c.465 others(53): Show c.465-2275_465-2274insCATTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	8/24						chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13804523	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	134	0.0075	36	c.206 others(53): Show c.206+6290_206+6291insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	4/24						chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13884144	T T	TCACCCAC others(29): Show TCACCCACACACACACTCACACACTCACACACACACA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0049	1	134	0.0075	36	c.46- others(53): Show c.46-25233_46-25232insTGTGTGTGTGTGAGTGTGTGAGTGTGTG TGTGGGTG		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24						chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13884176	T T	TCACTCAC others(29): Show TCACTCACACACACACACTCACACTCACACTCACACA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0123 a0001c0001t0005g0123	1	134	0.0075	36	c.46- others(53): Show c.46-25265_46-25264insTGTGTGAGTGTGAGTGTGAGTGTGTGTG TGTGAGTG		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24						chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14319349	C C	CCTCTCTC others(29): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19007.hp1 HG02258.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0011 a0001c0005t0003 a0001c0001t0011 a0001c0005t0003	a0001c0001t0011g0032 a0001c0005t0003g0003 a0001c0001t0011g0032 a0001c0005t0003g0003	2	134	0.0149	36	c.45+ others(53): Show c.45+10708_45+10709insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAG		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24						chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14319367	T T	TCTCTCTC others(29): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	134	0.0075	36	c.45+ others(53): Show c.45+10690_45+10691insTGTGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAG		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24						chr10	TogoVar
FRMD6_chr14_51646910_51735727	51721753	A A	AGGAGGGA others(29): Show AGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0182 a0001c0004t0012g0182	1	390	0.0026	36	c.136 others(53): Show c.1361-193_1361-192insGGGAAGGAGGGAAGGAGGGAAGGAGGGA AGGAGGGA		FRMD6	ENSG00000139926.16	transcript	ENST00000344768.10	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
FRMPD4_chrX_12133473_12729523	12230985	G G	GTATATAT others(29): Show GTATATATAGTATATATAATATATAGTATATATAGTA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	174	0.0058	36	c.41+ others(53): Show c.41+91991_41+92026dupATATATAGTATATATAGTATATATATAG TATATATA		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
FRRS1L_chr9_109125293_109172249	109131978	A A	ATTTTATT others(29): Show ATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp2 HG04228.hp1 HG01255.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0063 a0001c0001t0058 a0001c0001t0063	a0001c0001t0058g0295 a0001c0001t0063g0302 a0001c0001t0058g0295 a0001c0001t0063g0302	2	430	0.0047	36	c.54 others(47): Show c.5476_*5477insATAAAATAAAATAAAATAAAATAAAATAAAATAA AA		FRRS1L	ENSG00000260230.5	transcript	ENST00000561981.5	protein_coding	5/5				5476		chr9	TogoVar
FRS2_chr12_69465388_69584793	69538197	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	342	0.0029	36	c.-12 others(55): Show c.-122+6167_-122+6168insTATATATATATATATATATATATATA TATATATATA		FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
FRYL_chr4_48492357_48785279	48645124	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01175.hp2 HG01256.hp1 others(10): Show HG00408.hp2 HG01175.hp2 HG01256.hp1 HG02040.hp1 HG03579.hp1 NA18942.hp1 NA18947.hp1 NA18957.hp2 NA18978.hp1 NA19000.hp2 NA19007.hp2 NA19063.hp1 NA20805.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0030 a0001c0001 a0016c0030	a0001c0001t0001 a0001c0001t0002 a0016c0030t0001 a0001c0001t0001 a0001c0001t0002 a0016c0030t0001	a0001c0001t0001g0129 a0001c0001t0001g0160 a0001c0001t0001g0168 others(10): Show a0001c0001t0001g0129 a0001c0001t0001g0160 a0001c0001t0001g0168 a0001c0001t0001g0196 a0001c0001t0001g0204 a0001c0001t0001g0251 a0001c0001t0002g0253 a0001c0001t0002g0256 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0273 a0001c0001t0002g0280 a0016c0030t0001g0137	13	282	0.0461	36	c.-80 others(55): Show c.-80-10635_-80-10634insTATATATATATATATATATATATATA TATATATATA		FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63						chr4	TogoVar
FRYL_chr4_48492357_48785279	48645154	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	282	0.0036	36	c.-80 others(55): Show c.-80-10665_-80-10664insGATATATATATATATATATATATATA TATATATATA		FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63						chr4	TogoVar
FSCB_chr14_44499149_44512283	44504951	A A	AGGGGCCT others(29): Show AGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(176): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0011 a0017 others(2): Show a0001 a0011 a0017 a0020 a0021	a0001c0001 a0001c0006 a0001c0008 others(6): Show a0001c0001 a0001c0006 a0001c0008 a0001c0018 a0001c0027 a0011c0014 a0017c0024 a0020c0025 a0021c0019	a0001c0001t0002 a0001c0001t0009 a0001c0006t0003 others(11): Show a0001c0001t0002 a0001c0001t0009 a0001c0006t0003 a0001c0006t0004 a0001c0006t0012 a0001c0006t0013 a0001c0008t0002 a0001c0008t0008 a0001c0018t0002 a0001c0027t0005 a0011c0014t0002 a0017c0024t0002 a0020c0025t0002 a0021c0019t0002	a0001c0001t0002g0000 a0001c0001t0009g0000 a0001c0006t0003g0000 others(11): Show a0001c0001t0002g0000 a0001c0001t0009g0000 a0001c0006t0003g0000 a0001c0006t0004g0000 a0001c0006t0012g0000 a0001c0006t0013g0000 a0001c0008t0002g0000 a0001c0008t0008g0000 a0001c0018t0002g0000 a0001c0027t0005g0000 a0011c0014t0002g0000 a0017c0024t0002g0000 a0020c0025t0002g0000 a0021c0019t0002g0000	179	446	0.4014	36	c.203 others(45): Show c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC	p.Pro others(49): Show p.Pro679_Ala680insSerGluValGlnProProProAlaGluGluAl aPro	FSCB	ENSG00000189139.6	transcript	ENST00000340446.5	protein_coding	1/1	2332/3135	2036/2478	679/825			chr14	TogoVar
FSCB_chr14_44499149_44512283	44504951	A A	AGGGGCCT others(29): Show AGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00280.hp1 HG00673.hp1 others(37): Show HG00099.hp2 HG00280.hp1 HG00673.hp1 HG01069.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01891.hp1 HG01943.hp1 HG02074.hp1 HG02109.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02683.hp2 HG02717.hp1 HG02738.hp1 HG03017.hp1 HG03017.hp2 HG03471.hp1 HG03491.hp1 HG03688.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp2 NA18949.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18969.hp1 NA18971.hp1 NA18982.hp1 NA18986.hp1 NA19005.hp2 NA19070.hp1 NA19074.hp1	a0005 a0008 a0005 a0008	a0005c0005 a0008c0012 a0008c0020 a0005c0005 a0008c0012 a0008c0020	a0005c0005t0001 a0008c0012t0001 a0008c0020t0011 a0005c0005t0001 a0008c0012t0001 a0008c0020t0011	a0005c0005t0001g0000 a0008c0012t0001g0000 a0008c0020t0011g0000 a0005c0005t0001g0000 a0008c0012t0001g0000 a0008c0020t0011g0000	40	446	0.0897	36	c.200 others(45): Show c.2001_2036dupCGCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC	p.Pro others(49): Show p.Pro679_Ala680insAlaGluValGlnProProProAlaGluGluAl aPro	FSCB	ENSG00000189139.6	transcript	ENST00000340446.5	protein_coding	1/1	2332/3135	2036/2478	679/825			chr14	TogoVar
FSCB_chr14_44499149_44512283	44505130	C C	CGGGGGCC others(29): Show CGGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02615.hp1 HG02615.hp1	a0019 a0019	a0019c0021 a0019c0021	a0019c0021t0002 a0019c0021t0002	a0019c0021t0002g0000 a0019c0021t0002g0000	1	446	0.0022	36	c.185 others(45): Show c.1857_1858insACTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCCC	p.Pro others(49): Show p.Pro619_Ala620insThrGluValGlnProProProAlaGluGluAl aPro	FSCB	ENSG00000189139.6	transcript	ENST00000340446.5	protein_coding	1/1	2153/3135	1857/2478	619/825			chr14	TogoVar
FSCN2_chr17_81523377_81542130	81535800	A A	ACCATCCC others(29): Show ACCATCCCCATCTCCATCACCATCCCCCTCTCCATCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00558.hp1 others(20): Show HG00408.hp1 HG00544.hp1 HG00558.hp1 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG03942.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18956.hp1 NA18959.hp1 NA18968.hp2 NA18969.hp1 NA18977.hp2 NA18985.hp2 NA18986.hp1 NA18993.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19056.hp2 NA19068.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0019 a0001c0001 a0005c0019	a0001c0001t0002 a0005c0019t0002 a0001c0001t0002 a0005c0019t0002	a0001c0001t0002g0003 a0001c0001t0002g0038 a0001c0001t0002g0087 others(7): Show a0001c0001t0002g0003 a0001c0001t0002g0038 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0005c0019t0002g0003	23	432	0.0532	36	c.984 others(51): Show c.984-292_984-257dupACCATCCCCCTCTCCATCCCCATCCCCATC TCCATC		FSCN2	ENSG00000186765.12	transcript	ENST00000417245.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr17	TogoVar
FSHR_chr2_48957157_49159515	49013467	T T	TATATATA others(29): Show TATATATATATATATAAATAAATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	350	0.0029	36	c.374 others(53): Show c.374+4021_374+4022insTTATATATATATATATTTATTTATATAT ATATATAT		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	4/9						chr2	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	350	0.0029	36	c.225 others(53): Show c.225-1704_225-1703insTATATATATATATATATATAGAGAGAGA GAGAGAGA		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9						chr2	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18997.hp1 NA19062.hp2 NA18979.hp1 NA18997.hp1 NA19062.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0051 a0001c0001t0002g0087 a0002c0002t0002g0105 a0001c0001t0002g0051 a0001c0001t0002g0087 a0002c0002t0002g0105	3	350	0.0086	36	c.225 others(53): Show c.225-1704_225-1703insTATATATATATATATATAGAGAGAGAGA GAGAGAGA		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9						chr2	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18966.hp1 NA18973.hp1 others(1): Show NA18941.hp1 NA18966.hp1 NA18973.hp1 NA18997.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0296 a0001c0001t0002g0090 a0001c0001t0002g0114 others(1): Show a0001c0001t0001g0296 a0001c0001t0002g0090 a0001c0001t0002g0114 a0002c0002t0002g0092	4	350	0.0114	36	c.225 others(53): Show c.225-1704_225-1703insTATATATATATATATAGAGAGAGAGAGA GAGAGAGA		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9						chr2	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18944.hp1 HG02523.hp1 NA18944.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0091 a0002c0002t0002g0131 a0001c0001t0002g0091 a0002c0002t0002g0131	2	350	0.0057	36	c.225 others(53): Show c.225-1704_225-1703insTATATATATATAGAGAGAGAGAGAGAGA GAGAGAGA		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9						chr2	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0047 a0002c0002t0002g0047	1	350	0.0029	36	c.225 others(53): Show c.225-1704_225-1703insTATATATATAGAGAGAGAGAGAGAGAGA GAGAGAGA		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9						chr2	TogoVar
FSHR_chr2_48957157_49159515	49021886	T T	TATATATA others(29): Show TATATATATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	350	0.0029	36	c.225 others(53): Show c.225-1727_225-1726insCTCTCTCTCTCTCTATATATATATATAT ATATATAT		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9						chr2	TogoVar
FSIP1_chr15_39595031_39787841	39776216	G G	GGGAGGGA others(29): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01981.hp2 HG01884.hp2 HG01981.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0002	a0001c0001t0001g0207 a0003c0003t0002g0123 a0001c0001t0001g0207 a0003c0003t0002g0123	2	254	0.0079	36	c.126 others(51): Show c.126+182_126+183insTTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCC		FSIP1	ENSG00000150667.8	transcript	ENST00000350221.4	protein_coding	2/11						chr15	TogoVar

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Search Results (Total: 8848 hits)