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
FAM184A_chr6_118954763_119083664	118969993	A A	ATAAAATA others(29): Show ATAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02723.hp2 HG01346.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0115 a0001c0001t0001g0043 a0001c0001t0001g0115	2	286	0.0070	36	c.291 others(55): Show c.2916-3042_2916-3041insATATATATATATATATATATATATAT ATATATTTTA		FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17						chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	286	0.0035	36	c.291 others(55): Show c.2916-3057_2916-3056insAAAAAATATATATATATATATATATA TATATATATA		FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17						chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03834.hp1 HG01074.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0149 a0001c0001t0001g0081 a0001c0001t0001g0149	2	286	0.0070	36	c.291 others(55): Show c.2916-3057_2916-3056insAAAAAAAATATATATATATATATATA TATATATATA		FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17						chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	286	0.0035	36	c.291 others(55): Show c.2916-3057_2916-3056insAAAAAAAAAATATATATATATATATA TATATATATA		FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17						chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	286	0.0035	36	c.291 others(55): Show c.2916-3057_2916-3056insAAAAAAAAAAAATATATATATATATA TATATATATA		FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17						chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(29): Show ATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	286	0.0035	36	c.291 others(55): Show c.2916-3057_2916-3056insAAAAAAAAAAAAAATATATATATATA TATATATATA		FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17						chr6	TogoVar
FAM186A_chr12_50322309_50401609	50346215	G G	GAGAGAGA others(29): Show GAGAGAGAGAAGAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0325 a0002c0002t0001g0325	1	332	0.0030	36	c.650 others(55): Show c.6503+4113_6503+4114insTTCTTTCTTTCTTTCTTTCTTTCTTC TTCTCTCTCT		FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/7						chr12	TogoVar
FAM186A_chr12_50322309_50401609	50346215	G G	GAGAGAGA others(29): Show GAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0162 a0002c0006t0001g0162	1	332	0.0030	36	c.650 others(55): Show c.6503+4113_6503+4114insTTCTTTCTTTCTTTCTTTCTTTCTTT CTCTCTCTCT		FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/7						chr12	TogoVar
FAM186A_chr12_50322309_50401609	50346215	G G	GAGAGAGA others(29): Show GAGAGAGAGAGAAGGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01069.hp1 others(28): Show HG00099.hp2 HG00140.hp1 HG01069.hp1 HG01071.hp1 HG01361.hp2 HG01496.hp1 HG01517.hp1 HG01934.hp2 HG01975.hp1 HG02071.hp1 HG02129.hp1 HG02155.hp1 HG02523.hp1 HG02559.hp2 HG02647.hp1 HG02698.hp2 NA18957.hp2 NA18962.hp2 NA18963.hp1 NA18975.hp2 NA18982.hp1 NA18986.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19011.hp1 NA19077.hp2 NA19079.hp1 NA19085.hp1 NA19087.hp1 NA19089.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0039 a0002c0002 others(1): Show a0001c0001 a0001c0039 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0039t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0039t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(28): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0196 a0001c0001t0001g0261 a0001c0001t0001g0292 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0039t0001g0064 a0002c0002t0001g0178 a0003c0003t0001g0008 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0199 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0206	31	332	0.0934	36	c.650 others(55): Show c.6503+4113_6503+4114insTTCTTTCTTTCTTTCTTTCTTTCCTT CTCTCTCTCT		FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/7						chr12	TogoVar
FAM186A_chr12_50322309_50401609	50352213	C C	CCCAGGGC others(29): Show CCCAGGGCCTGGGCCTGCTGAGGGGTGAGAGGGATCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03209.hp1 HG03209.hp1	a0029 a0029	a0029c0025 a0029c0025	a0029c0025t0001 a0029c0025t0001	a0029c0025t0001g0243 a0029c0025t0001g0243	1	332	0.0030	36	c.461 others(45): Show c.4618_4619insAGATCCCTCTCACCCCTCAGCAGGCCCAGGCCCTGG	p.Leu others(51): Show p.Leu1539_Gly1540insGluIleProLeuThrProGlnGlnAlaGln AlaLeu	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/8	4743/7255	4618/7056	1540/2351			chr12	TogoVar
FAM193A_chr4_2531647_2737573	2598482	A A	AATGATTT others(29): Show AATGATTTTTGCATCTGTGCTCATGAAGGCTGTCTGT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	330	0.0030	36	c.501 others(53): Show c.501+2155_501+2190dupTGATTTTTGCATCTGTGCTCATGAAGGC TGTCTGTA		FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0004 a0002c0012t0004	a0002c0012t0004g0328 a0002c0012t0004g0328	1	330	0.0030	36	c.502 others(53): Show c.502-7999_502-7998insATATATATATATATATATATATATATAT TTTTTTTT		FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM200A_chr7_99541300_99557114	99553068	C C	CATATATA others(29): Show CATATATATATATACACACATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	378	0.0027	36	c.-13 others(47): Show c.-1315_-1314insATATATATATATATATATGTGTGTATATATATAT AT		FAM200A	ENSG00000221909.3	transcript	ENST00000449309.2	protein_coding					955		chr7	TogoVar
FAM221A_chr7_23675199_23707650	23684359	C C	CGGCCTGC others(29): Show CGGCCTGCCACATCTGTAAGAAAAGACAGATTTAACA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG00738.hp1 others(36): Show HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG02132.hp2 HG02257.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02735.hp2 HG02965.hp2 HG03195.hp2 HG03225.hp1 HG04184.hp1 HG06807.hp2 NA18612.hp2 NA18949.hp2 NA18952.hp1 NA18955.hp1 NA18957.hp2 NA18962.hp2 NA18993.hp2 NA19030.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0032 others(29): Show a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0094 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0002g0031 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0133 a0001c0001t0002g0200 a0001c0001t0010g0123	39	410	0.0951	36	c.66- others(49): Show c.66-107_66-106insACAGGCCTGCCACATCTGTAAGAAAAGACAGA TTTA		FAM221A	ENSG00000188732.11	transcript	ENST00000344962.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr7	TogoVar
FAM222B_chr17_28750980_28847790	28822842	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0269 a0001c0001t0012g0269	1	276	0.0036	36	c.-41 others(55): Show c.-41+19839_-41+19840insGTGTGTATATATATATATATATATAT ATATATATAT		FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2						chr17	TogoVar
FAM236A_chrX_72933206_72943958	72943820	C C	CAGGAGGA others(29): Show CAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	158	0.0063	36	c.49 others(47): Show c.4987_*4988insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GG		FAM236A	ENSG00000275520.2	transcript	ENST00000611003.2	protein_coding					4863		chrX	TogoVar
FAM236B_chrX_72776865_72787660	72776950	T T	TTCCTCCT others(29): Show TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	110	0.0091	36	c.50 others(47): Show c.5004_*5039dupGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GA		FAM236B	ENSG00000268994.3	transcript	ENST00000596535.3	protein_coding					4914		chrX	TogoVar
FAM241A_chr4_112140454_112200256	112197333	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 NA19082.hp1 HG02486.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0091 a0001c0001t0007 a0001c0001t0091	a0001c0001t0007g0120 a0001c0001t0091g0122 a0001c0001t0007g0120 a0001c0001t0091g0122	2	388	0.0052	36	c.10 others(49): Show c.10395_*10396insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		FAM241A	ENSG00000174749.6	transcript	ENST00000309733.6	protein_coding					2078		chr4	TogoVar
FAM3C_chr7_121343878_121401308	121395234	C C	CATACATA others(29): Show CATACATACATATATATGGATACATACATATATATGG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA19002.hp2 NA19240.hp2 NA18948.hp2 NA19002.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061	3	270	0.0111	36	c.-42 others(51): Show c.-42+892_-42+927dupCCATATATATGTATGTATCCATATATATGT ATGTAT		FAM3C	ENSG00000196937.11	transcript	ENST00000359943.8	protein_coding	1/9						chr7	TogoVar
FAM47C_chrX_37003366_37016664	37010258	T T	TCATCTCC others(29): Show TCATCTCCGCCCAGAGCCTCCTGAGACTGGAGTGTCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00558.hp1 HG01168.hp1 HG01169.hp1 others(33): Show HG00558.hp1 HG01168.hp1 HG01169.hp1 HG01884.hp1 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02083.hp1 HG02148.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp1 HG03453.hp1 HG03704.hp2 HG03927.hp2 HG06807.hp2 NA18947.hp1 NA18948.hp1 NA18957.hp1 NA18968.hp1 NA18980.hp2 NA18998.hp2 NA19063.hp1 NA19070.hp1 NA19078.hp2 NA19081.hp1 NA19240.hp2	a0002 a0014 a0002 a0014	a0002c0002 a0002c0009 a0014c0020 a0002c0002 a0002c0009 a0014c0020	a0002c0002t0001 a0002c0009t0001 a0014c0020t0001 a0002c0002t0001 a0002c0009t0001 a0014c0020t0001	a0002c0002t0001g0000 a0002c0009t0001g0000 a0014c0020t0001g0000 a0002c0002t0001g0000 a0002c0009t0001g0000 a0014c0020t0001g0000	36	308	0.1169	36	c.186 others(45): Show c.1869_1904dupTGAGACTGGAGTGTCCCATCTCCGCCCAGAGCCTCC	p.Pro others(49): Show p.Pro635_Lys636insGluThrGlyValSerHisLeuArgProGluPr oPro	FAM47C	ENSG00000198173.5	transcript	ENST00000358047.5	protein_coding	1/1	1950/3299	1905/3108	635/1035		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAM50B_chr6_3844373_3856317	3853221	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	480	0.0021	36	c.24 others(47): Show c.2432_*2433insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		FAM50B	ENSG00000145945.7	transcript	ENST00000648326.1	protein_coding					1905		chr6	TogoVar
FAM78B_chr1_166064299_166172001	166077587	A A	AAATACAT others(29): Show AAATACATATAATTATATATTTATATAAATTATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	318	0.0031	36	c.264 others(53): Show c.264-6860_264-6825dupATATATAATTTATATAAATATATAATTA TATGTATT		FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1						chr1	TogoVar
FAM78B_chr1_166064299_166172001	166109882	G G	GTATATAT others(29): Show GTATATATATATATGTATATATGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA19086.hp2 HG02129.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0282 a0001c0002t0003g0290 a0001c0001t0001g0282 a0001c0002t0003g0290	2	318	0.0063	36	c.264 others(55): Show c.264-39120_264-39119insTATATATATATATACATATATACATA TATATATATA		FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1						chr1	TogoVar
FAM78B_chr1_166064299_166172001	166109882	G G	GTATATAT others(29): Show GTATATATATATATGTATATATGTATGTATATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03490.hp1 HG03834.hp1 HG03239.hp1 HG03490.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0010 a0001c0001t0001 a0001c0002t0003 a0001c0002t0010	a0001c0001t0001g0210 a0001c0002t0003g0201 a0001c0002t0010g0202 a0001c0001t0001g0210 a0001c0002t0003g0201 a0001c0002t0010g0202	3	318	0.0094	36	c.264 others(55): Show c.264-39120_264-39119insTATATATATACATACATATATACATA TATATATATA		FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1						chr1	TogoVar
FANCA_chr16_89732549_89821647	89771155	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0006 a0006	a0006c0056 a0006c0056	a0006c0056t0004 a0006c0056t0004	a0006c0056t0004g0320 a0006c0056t0004g0320	1	334	0.0030	36	c.215 others(53): Show c.2151+522_2152-521insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	23/42						chr16	TogoVar
FANCE_chr6_35447338_35472102	35452213	A A	ATGGGCAC others(29): Show ATGGGCACGCCCCAGGCCTTGGGCACGCCCCAGGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18967.hp2 NA18977.hp2 NA18965.hp2 NA18967.hp2 NA18977.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0016 a0004c0007t0001g0016	3	402	0.0075	36	c.-33 others(45): Show c.-333_-332insTGGGCACGCCCCAGGCCTTGGGCACGCCCCAGGCCT		FANCE	ENSG00000112039.6	transcript	ENST00000229769.3	protein_coding					124		chr6	TogoVar
FANK1_chr10_125891564_126014592	125914280	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02559.hp2 HG02895.hp1 HG02080.hp1 HG02559.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0348 a0001c0001t0003g0356 a0001c0001t0003g0359 a0001c0001t0001g0348 a0001c0001t0003g0356 a0001c0001t0003g0359	3	370	0.0081	36	c.13+ others(53): Show c.13+17637_13+17638insATATATATATATATATATATATATATAT ATATATAT		FANK1	ENSG00000203780.12	transcript	ENST00000368693.6	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
FANK1_chr10_125891564_126014592	125991250	G G	GGTGTGTG others(29): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02615.hp1 HG01168.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0368 a0001c0001t0002g0148 a0001c0001t0002g0368	2	370	0.0054	36	c.316 others(53): Show c.316+2603_316+2604insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT		FANK1	ENSG00000203780.12	transcript	ENST00000368693.6	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
FAR2_chr12_29144278_29340616	29253280	G G	GATATCTA others(29): Show GATATCTATATCTATATCTATCTAGATAGATATCTAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18957.hp2 HG02630.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0008 a0001c0002t0001g0268 a0001c0001t0002g0008 a0001c0002t0001g0268	2	326	0.0061	36	c.-38 others(55): Show c.-38-17118_-38-17117insATCTATCTAGATAGATATCTATATAT CTATATCTAT		FAR2	ENSG00000064763.12	transcript	ENST00000536681.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
FAR2_chr12_29144278_29340616	29253280	G G	GATATCTA others(29): Show GATATCTATCTAGATAGATATCTATATATCGATATCT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02970.hp1 NA19010.hp1 HG01517.hp2 HG02970.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0180 a0001c0001t0002g0256 a0001c0001t0002g0012 a0001c0001t0002g0180 a0001c0001t0002g0256	3	326	0.0092	36	c.-38 others(55): Show c.-38-17124_-38-17123insCTAGATAGATATCTATATATCGATAT CTATATCTAT		FAR2	ENSG00000064763.12	transcript	ENST00000536681.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
FARP1_chr13_98138094_98460176	98259326	A A	AGTGTGTA others(29): Show AGTGTGTATATATACACACATATATACGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02257.hp2 others(2): Show HG01891.hp2 HG02055.hp2 HG02257.hp2 HG02486.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0022 a0001c0001t0026 others(2): Show a0001c0001t0007 a0001c0001t0022 a0001c0001t0026 a0001c0001t0073 a0001c0002t0072	a0001c0001t0007g0016 a0001c0001t0022g0206 a0001c0001t0026g0158 others(2): Show a0001c0001t0007g0016 a0001c0001t0022g0206 a0001c0001t0026g0158 a0001c0001t0073g0146 a0001c0002t0072g0157	5	218	0.0229	36	c.171 others(55): Show c.171+45922_171+45957dupATATACACACATATATACGTGTGTGT GTGTGTGTAT		FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98401415	A A	AACACACA others(29): Show AACACACACACACACACACACACACAGACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01891.hp2 HG01981.hp2 others(4): Show HG00099.hp1 HG01891.hp2 HG01981.hp2 HG01993.hp2 HG02451.hp1 HG02717.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0067 a0001c0002t0001	a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0004g0128 others(4): Show a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0004g0128 a0001c0001t0005g0084 a0001c0001t0007g0016 a0001c0001t0067g0159 a0001c0002t0001g0049	7	218	0.0321	36	c.141 others(55): Show c.1414+5962_1414+5963insCAGACACACACACACACACACACACA CACACACACA		FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	13/26					INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98401415	A A	AACACACA others(29): Show AACACACACACACACACACACACAGACACACACACAC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0012 a0001c0001t0021g0012	1	218	0.0046	36	c.141 others(55): Show c.1414+5962_1414+5963insGACACACACACACACACACACACACA CACACACACA		FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	13/26					INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98401415	A A	AACACACA others(29): Show AACACACACACACACAGACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0071 a0001c0002t0071	a0001c0002t0071g0094 a0001c0002t0071g0094	1	218	0.0046	36	c.141 others(55): Show c.1414+5954_1414+5955insGACACACACACACACACACACACACA CACACACACA		FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	13/26					INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP2_chr2_241351285_241499841	241355881	G G	GCCCAGGA others(29): Show GCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0376 a0001c0001t0001g0376	1	378	0.0027	36	c.-53 others(45): Show c.-532_-531insCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCC		FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding					403		chr2	TogoVar
FARP2_chr2_241351285_241499841	241366125	A A	ATATATAC others(29): Show ATATATACACGTATATATATATACATATATATATACG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00642.hp1 others(15): Show HG00099.hp2 HG00140.hp1 HG00642.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01109.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp2 HG02572.hp1 HG02895.hp1 HG03017.hp1 HG04199.hp1 NA20805.hp1	a0001 a0006 a0001 a0006	a0001c0004 a0006c0009 a0001c0004 a0006c0009	a0001c0004t0001 a0006c0009t0001 a0001c0004t0001 a0006c0009t0001	a0001c0004t0001g0164 a0001c0004t0001g0165 a0001c0004t0001g0166 others(15): Show a0001c0004t0001g0164 a0001c0004t0001g0165 a0001c0004t0001g0166 a0001c0004t0001g0167 a0001c0004t0001g0168 a0001c0004t0001g0169 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0172 a0001c0004t0001g0173 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0001g0178 a0001c0004t0001g0179 a0001c0004t0001g0180 a0001c0004t0001g0181 a0001c0004t0001g0182 a0006c0009t0001g0185	18	378	0.0476	36	c.-24 others(53): Show c.-24-6953_-24-6952insCACGTATATATATATACATATATATATA CGTATATA		FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
FARP2_chr2_241351285_241499841	241366125	A A	ATATATAC others(29): Show ATATATACGTATATATATATACATATATATATATACG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0052 a0003c0005t0001g0052	1	378	0.0027	36	c.-24 others(53): Show c.-24-6953_-24-6952insCGTATATATATATACATATATATATATA CGTATATA		FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
FARS2_chr6_5256513_5776583	5315717	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG01257.hp1 others(7): Show HG00438.hp2 HG00558.hp2 HG01257.hp1 HG01261.hp1 HG01496.hp2 HG01952.hp1 HG02071.hp2 HG03017.hp2 NA18964.hp2 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 others(7): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0001g0086 a0001c0001t0002g0128 a0002c0002t0001g0015 a0002c0002t0002g0142	10	170	0.0588	36	c.-21 others(55): Show c.-21-52813_-21-52812insCTTTCTTTCTTTCTTCCTTTCTTTCT TTCTTTCTTT		FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5315726	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02293.hp1 HG03704.hp1 others(3): Show HG01243.hp1 HG02293.hp1 HG03704.hp1 HG04184.hp1 HG04228.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0034 others(3): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0069 a0001c0001t0002g0125 a0001c0001t0002g0130	6	170	0.0353	36	c.-21 others(55): Show c.-21-52813_-21-52812insCTTTCTTTCTTTCTTTCTTTCTTTTT TTCTTTCTTT		FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5407066	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	170	0.0059	36	c.772 others(53): Show c.772+2366_772+2367insTATATATATATATATATATATATATATA TATATAAA		FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5539384	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	170	0.0059	36	c.905 others(53): Show c.905-5781_905-5780insATATATATATATATATATATATATATAT ATATATAT		FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5539384	G G	GTGTGTAT others(29): Show GTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03492.hp2 NA18970.hp1 NA20129.hp2 HG03492.hp2 NA18970.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0061 a0001c0001t0001g0074 a0001c0001t0001g0021 a0001c0001t0001g0061 a0001c0001t0001g0074	3	170	0.0177	36	c.905 others(53): Show c.905-5795_905-5794insGTGTATATATATATATATATATATATAT ATATATAT		FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5584108	G G	GACACACA others(29): Show GACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	170	0.0059	36	c.106 others(57): Show c.1066-29027_1066-29026insACACACACACACACACACACACAC ACACACACACAC		FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
FARSB_chr2_222561899_222661092	222605161	T T	TTCTCTCT others(29): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0313 a0001c0001t0005g0313	1	344	0.0029	36	c.146 others(55): Show c.1463-5079_1463-5078insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA		FARSB	ENSG00000116120.11	transcript	ENST00000281828.8	protein_coding	15/16						chr2	TogoVar
FAT1_chr4_186582794_186728856	186594654	G G	GTATATAT others(29): Show GTATATATATATATACTTGAAAGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0147 a0002c0002t0012g0147	1	338	0.0030	36	c.131 others(56): Show c.13138+999_13138+1034dupTATATATATATATACTTTCAAGTAT ATATATATATA		FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	26/26						chr4	TogoVar
FAT1_chr4_186582794_186728856	186594676	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATACTTGAAAGTA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0217 a0003c0003t0001g0217	1	338	0.0030	36	c.131 others(57): Show c.13138+1012_13138+1013insTACTTTCAAGTATATATATATATA TATATATATATA		FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	26/26						chr4	TogoVar
FAT2_chr5_151499092_151596331	151534968	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0015 a0006c0005t0015	a0006c0005t0015g0391 a0006c0005t0015g0391	1	398	0.0025	36	c.919 others(53): Show c.9194-327_9194-326insATATATATATATATATATATATATATAT ATATATAT		FAT2	ENSG00000086570.13	transcript	ENST00000261800.6	protein_coding	12/23						chr5	TogoVar
FAT2_chr5_151499092_151596331	151534970	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01516.hp1 HG02040.hp1 others(8): Show HG01074.hp1 HG01516.hp1 HG02040.hp1 HG02148.hp1 NA18980.hp1 NA18984.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA19055.hp1 NA19081.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0010 a0013 a0020 a0067	a0001c0003 a0001c0004 a0001c0021 others(7): Show a0001c0003 a0001c0004 a0001c0021 a0002c0001 a0003c0009 a0006c0005 a0010c0094 a0013c0035 a0020c0028 a0067c0160	a0001c0003t0001 a0001c0004t0001 a0001c0021t0008 others(7): Show a0001c0003t0001 a0001c0004t0001 a0001c0021t0008 a0002c0001t0002 a0003c0009t0001 a0006c0005t0003 a0010c0094t0002 a0013c0035t0001 a0020c0028t0001 a0067c0160t0008	a0001c0003t0001g0202 a0001c0004t0001g0262 a0001c0004t0001g0265 others(8): Show a0001c0003t0001g0202 a0001c0004t0001g0262 a0001c0004t0001g0265 a0001c0021t0008g0122 a0002c0001t0002g0345 a0003c0009t0001g0063 a0006c0005t0003g0125 a0010c0094t0002g0385 a0013c0035t0001g0227 a0020c0028t0001g0070 a0067c0160t0008g0211	11	398	0.0276	36	c.919 others(53): Show c.9194-329_9194-328insATATATATATATATATATATATATATAT ATATATAT		FAT2	ENSG00000086570.13	transcript	ENST00000261800.6	protein_coding	12/23						chr5	TogoVar
FATE1_chrX_151711035_151728194	151718110	G G	GAGGAAGG others(29): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	342	0.0029	36	c.234 others(51): Show c.234+739_234+774dupAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGG		FATE1	ENSG00000147378.11	transcript	ENST00000370350.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
FBLN1_chr22_45497883_45606135	45555248	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	346	0.0029	36	c.169 others(55): Show c.1697+4650_1697+4651insTATATATATATATATATATATATATA TATATATATA		FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16					INFO_REALIGN_3_PRIME	chr22	TogoVar

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