Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FAM13C_chr10_59241133_59367549	59286516	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03540.hp2 HG03927.hp1 others(2): Show HG02698.hp2 HG03540.hp2 HG03927.hp1 NA18950.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0068 a0001c0001t0002g0076 others(2): Show a0001c0001t0002g0008 a0001c0001t0002g0068 a0001c0001t0002g0076 a0001c0001t0002g0090 a0001c0001t0002g0124	5	9	0.5556	40	c.508 others(57): Show c.508-3070_508-3069insATATATATATATATATATATATATATAT ATATATATATAT	FAM13C	ENSG00000148541.13	transcript	ENST00000618804.5	protein_coding	5/13			chr10	TogoVar
FAM13C_chr10_59241133_59367549	59304761	G G	GAGGGAAG others(33): Show GAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02976.hp1 HG03471.hp2 others(1): Show HG01243.hp1 HG02976.hp1 HG03471.hp2 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0051 a0003c0003t0001g0192 a0003c0003t0001g0193 others(1): Show a0001c0001t0001g0051 a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0195	4	26	0.1538	40	c.444 others(57): Show c.444-1937_444-1898dupTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCT	FAM13C	ENSG00000148541.13	transcript	ENST00000618804.5	protein_coding	4/13			chr10	TogoVar
FAM149A_chr4_186099704_186180337	186136936	A A	ATCTCTCT others(33): Show ATCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0350 a0003c0002t0004g0350	1	313	0.0032	40	c.567 others(59): Show c.567-12214_567-12213insTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186136940	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0017 a0017	a0017c0037 a0017c0037	a0017c0037t0036 a0017c0037t0036	a0017c0037t0036g0023 a0017c0037t0036g0023	1	386	0.0026	40	c.567 others(59): Show c.567-12214_567-12213insTTCTCTCTCTCTCTCTCTCTTTCTCT CTCTCTCTCTCTCT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186136964	T T	TTCTCTCT others(33): Show TTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0012 a0012	a0012c0057 a0012c0057	a0012c0057t0007 a0012c0057t0007	a0012c0057t0007g0285 a0012c0057t0007g0285	1	328	0.0030	40	c.567 others(59): Show c.567-12198_567-12197insCTCTCTCTCTTTCTCTCTCTCTCTCT CTCTCTCTCTCTCT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186136972	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0006 a0006	a0006c0059 a0006c0059	a0006c0059t0013 a0006c0059t0013	a0006c0059t0013g0316 a0006c0059t0013g0316	1	367	0.0027	40	c.567 others(59): Show c.567-12198_567-12197insCTCTCTCTTTCTCTCTCTCTCTCTCT CTCTCTCTCTTTCT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186136978	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0029 a0006c0009t0029	a0006c0009t0029g0304 a0006c0009t0029g0304	1	385	0.0026	40	c.567 others(59): Show c.567-12156_567-12155insTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186136992	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0057 a0003c0002t0057	a0003c0002t0057g0322 a0003c0002t0057g0322	1	317	0.0032	40	c.567 others(59): Show c.567-12168_567-12167insTTCTCTCTCTCTCTCTCTCTCTCTCT TTCTCTCTCTCTCT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM161A_chr2_61819848_61859060	61823362	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01192.hp2 HG01256.hp1 others(10): Show HG00408.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG02056.hp1 HG02647.hp2 HG02683.hp1 HG03209.hp1 HG03704.hp2 NA18522.hp2 NA18946.hp2 NA18969.hp1 NA19080.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0008 a0001c0001 a0002c0002 a0006c0008	a0001c0001t0002 a0002c0002t0002 a0006c0008t0002 a0001c0001t0002 a0002c0002t0002 a0006c0008t0002	a0001c0001t0002g0009 a0002c0002t0002g0018 a0002c0002t0002g0020 others(9): Show a0001c0001t0002g0009 a0002c0002t0002g0018 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0202 a0002c0002t0002g0219 a0002c0002t0002g0226 a0002c0002t0002g0238 a0006c0008t0002g0216	13	18	0.7222	40	c.30 others(51): Show c.3092_*3093insATATATATATATATATATATATATATATATATAT ATATAT	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding		1485		chr2	TogoVar
FAM174C_chr19_1270530_1284228	1275931	C C	CCTCCCTC others(33): Show CCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	235	0.0043	40	c.281 others(55): Show c.281+112_281+113insCCTCCCTCCCTCCCTCTCTCCCTCCCTCTC TCCCTCCCTC	FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
FAM184A_chr6_118954763_119083664	118969993	A A	ATAAAATA others(33): Show ATAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02135.hp1 HG02523.hp2 others(4): Show HG01081.hp1 HG02135.hp1 HG02523.hp2 HG02622.hp1 HG02809.hp2 HG03453.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0116 others(4): Show a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0150 a0001c0001t0001g0209 a0001c0001t0001g0220 a0001c0001t0003g0018	7	188	0.0372	40	c.291 others(59): Show c.2916-3042_2916-3041insATATATATATATATATATATATATAT ATATATATATTTTA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118969993	A A	ATAAAATA others(33): Show ATAAAATATGTATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	182	0.0055	40	c.291 others(59): Show c.2916-3042_2916-3041insATATATATATATATATATATATATAT ATATACATATTTTA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	50	0.0200	40	c.291 others(59): Show c.2916-3057_2916-3056insAAAAAAAATATATATATATATATATA TATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02083.hp1 NA19002.hp1 others(2): Show HG01358.hp1 HG02083.hp1 NA19002.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0238 others(2): Show a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0238 a0001c0001t0001g0265 a0001c0001t0008g0284	5	54	0.0926	40	c.291 others(59): Show c.2916-3057_2916-3056insAAAAAAAAAATATATATATATATATA TATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA20905.hp2 NA19012.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0212 a0001c0001t0001g0148 a0001c0001t0001g0212	2	51	0.0392	40	c.291 others(59): Show c.2916-3057_2916-3056insAAAAAAAAAAAATATATATATATATA TATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	50	0.0200	40	c.291 others(59): Show c.2916-3057_2916-3056insAAAAAAAAAAAAAATATATATATATA TATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM186A_chr12_50322309_50401609	50346215	G G	GAGAGAGA others(33): Show GAGAGAGAGAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp2 HG01109.hp2 others(18): Show HG00738.hp2 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01257.hp1 HG01257.hp2 HG01515.hp1 HG01943.hp2 HG02165.hp2 HG02683.hp2 NA18943.hp1 NA18948.hp1 NA18966.hp2 NA18984.hp2 NA19054.hp1 NA19057.hp2 NA19060.hp1 NA19080.hp2 NA19240.hp1 NA20905.hp2	a0001 a0003 a0016 a0001 a0003 a0016	a0001c0001 a0003c0003 a0016c0041 a0001c0001 a0003c0003 a0016c0041	a0001c0001t0001 a0003c0003t0001 a0016c0041t0001 a0001c0001t0001 a0003c0003t0001 a0016c0041t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0015 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0104 a0001c0001t0001g0256 a0001c0001t0001g0298 a0001c0001t0001g0307 a0001c0001t0001g0329 a0003c0003t0001g0211 a0016c0041t0001g0297	21	106	0.1981	40	c.650 others(59): Show c.6503+4113_6503+4114insTTCTTTCTTTCTTTCTTTCTTTCTTT CCTTCTCTCTCTCT	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/7			chr12	TogoVar
FAM186A_chr12_50322309_50401609	50390092	G G	GGATTTTA others(33): Show GGATTTTACTTCTTTTTACTTAGTAATTCTTAAGCTCTCAT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0139 a0002c0002t0001g0139	1	330	0.0030	40	c.192 others(57): Show c.192+6200_192+6201insATGAGAGCTTAAGAATTACTAAGTAAAA AGAAGTAAAATC	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	1/7			chr12	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0240 a0001c0002t0001g0240	1	81	0.0123	40	c.502 others(57): Show c.502-7999_502-7998insATATATATATATATATATATATATATAT ATTTTTTTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM219A_chr9_34393184_34463570	34415787	G G	GTAAAGTT others(33): Show GTAAAGTTCAAGACTGTGGATTAGGTAAACAGAGAGAGCCA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	394	0.0025	40	c.61- others(55): Show c.61-9824_61-9823insTGGCTCTCTCTGTTTACCTAATCCACAGTC TTGAACTTTA	FAM219A	ENSG00000164970.15	transcript	ENST00000651358.1	protein_coding	1/5			chr9	TogoVar
FAM227A_chr22_38573118_38661392	38613084	A A	ATATATAT others(33): Show ATATATATATTATATATAATTATATATATATTATATATAAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18982.hp1 NA19084.hp2 others(1): Show NA18944.hp1 NA18982.hp1 NA19084.hp2 NA19085.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0019 a0002c0002t0047 a0003c0005t0004 a0002c0002t0019 a0002c0002t0047 a0003c0005t0004	a0002c0002t0019g0173 a0002c0002t0019g0195 a0002c0002t0047g0175 others(1): Show a0002c0002t0019g0173 a0002c0002t0019g0195 a0002c0002t0047g0175 a0003c0005t0004g0178	4	297	0.0135	40	c.103 others(59): Show c.1039-5609_1039-5608insATTATATATAATATATATATAATTAT ATATAATATATATA	FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	11/16			chr22	TogoVar
FAM241A_chr4_112140454_112200256	112197333	T T	TAAAAAAA others(33): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA19001.hp1 NA19083.hp2 NA18966.hp2 NA19001.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	3	10	0.3000	40	c.10 others(53): Show c.10395_*10396insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	FAM241A	ENSG00000174749.6	transcript	ENST00000309733.6	protein_coding		2078		chr4	TogoVar
FAM53A_chr4_1634887_1689313	1651720	G G	GCAGGCTC others(33): Show GCAGGCTCAGCAAGGGACCCAAAGCTGGGGACAGGGACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00639.hp1 others(30): Show HG00099.hp2 HG00280.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG01074.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01257.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG02040.hp2 HG02055.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02698.hp2 HG02735.hp2 HG02922.hp2 HG03017.hp2 HG03239.hp1 HG03453.hp2 HG03710.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0017 others(1): Show a0001c0001 a0001c0002 a0001c0017 a0007c0018	a0001c0001t0021 a0001c0002t0005 a0001c0002t0012 others(5): Show a0001c0001t0021 a0001c0002t0005 a0001c0002t0012 a0001c0002t0015 a0001c0002t0040 a0001c0002t0045 a0001c0017t0005 a0007c0018t0005	a0001c0001t0021g0325 a0001c0002t0005g0140 a0001c0002t0005g0143 others(29): Show a0001c0001t0021g0325 a0001c0002t0005g0140 a0001c0002t0005g0143 a0001c0002t0005g0159 a0001c0002t0005g0160 a0001c0002t0005g0205 a0001c0002t0005g0263 a0001c0002t0005g0270 a0001c0002t0005g0279 a0001c0002t0005g0298 a0001c0002t0005g0299 a0001c0002t0005g0300 a0001c0002t0005g0301 a0001c0002t0005g0302 a0001c0002t0005g0304 a0001c0002t0005g0305 a0001c0002t0005g0306 a0001c0002t0005g0307 a0001c0002t0012g0016 a0001c0002t0012g0017 a0001c0002t0012g0051 a0001c0002t0012g0057 a0001c0002t0012g0058 a0001c0002t0012g0059 a0001c0002t0015g0004 a0001c0002t0015g0070 a0001c0002t0015g0094 a0001c0002t0015g0125 a0001c0002t0040g0321 a0001c0002t0045g0303 a0001c0017t0005g0163 a0007c0018t0005g0319	33	347	0.0951	40	c.882 others(57): Show c.882+3218_882+3257dupTGTGTCCCTGTCCCCAGCTTTGGGTCCC TTGCTGAGCCTG	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	4/4			chr4	TogoVar
FAM78B_chr1_166064299_166172001	166109882	G G	GTATATAT others(33): Show GTATATATATATATGTATATATGTATGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0201 a0001c0002t0003g0201	1	231	0.0043	40	c.264 others(59): Show c.264-39120_264-39119insTATATATATATATACATACATATATA CATATATATATATA	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FAM83E_chr19_48594961_48620076	48616643	C C	CCAGCACA others(33): Show CCAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 NA18949.hp2 HG02015.hp2 NA18949.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0002 a0004c0006t0001 a0004c0006t0002	a0004c0006t0001g0009 a0004c0006t0002g0068 a0004c0006t0001g0009 a0004c0006t0002g0068	2	203	0.0099	40	c.-30 others(51): Show c.-3095_-3094insTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGCT GTGCTG	FAM83E	ENSG00000105523.4	transcript	ENST00000263266.4	protein_coding		1568		chr19	TogoVar
FAM90A9_chr8_7756330_7769340	7762523	A A	ATGGGGCT others(33): Show ATGGGGCTGGGCCCCAGACGGGGTTCTCCCTGTCTCCTGGG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	92	0.0109	40	c.324 others(53): Show c.324-60_324-59insTTCTCCCTGTCTCCTGGGTGGGGCTGGGCCCC AGACGGGG	FAM90A9	ENSG00000285607.1	transcript	ENST00000648344.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAN1_chr15_30898915_30948108	30929717	T T	TATATATA others(33): Show TATATATAAAATATATAATATATTATATCATATATAATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00642.hp2 others(23): Show HG00280.hp1 HG00323.hp1 HG00642.hp2 HG00733.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01123.hp1 HG01257.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp1 HG01993.hp2 HG02109.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG03225.hp2 HG03579.hp2 HG03834.hp2 HG04184.hp2 NA18977.hp1 NA20129.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0015 a0010c0016 a0001c0001 a0001c0015 a0010c0016	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0015t0003 a0010c0016t0003	a0001c0001t0003g0002 a0001c0001t0003g0018 a0001c0001t0003g0019 others(12): Show a0001c0001t0003g0002 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0073 a0001c0001t0003g0076 a0001c0001t0004g0046 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0006g0056 a0001c0015t0003g0002 a0010c0016t0003g0062	26	180	0.1444	40	c.278 others(57): Show c.2787+417_2787+456dupATATATTATATCATATATAATATAATAT ATAAAATATATA	FAN1	ENSG00000198690.10	transcript	ENST00000362065.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
FANK1_chr10_125891564_126014592	125991250	G G	GGTGTGTG others(33): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0364 a0001c0001t0002g0364	1	35	0.0286	40	c.316 others(57): Show c.316+2603_316+2604insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	FANK1	ENSG00000203780.12	transcript	ENST00000368693.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
FARP1_chr13_98138094_98460176	98401415	A A	AACACACA others(33): Show AACACACACACACACACACACACACAGACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0071 a0001c0002t0071	a0001c0002t0071g0157 a0001c0002t0071g0157	1	5	0.2000	40	c.141 others(59): Show c.1414+5962_1414+5963insCAGACACACACACACACACACACACA CACACACACACACA	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(33): Show AACACACACACACACACACACACAGACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02523.hp2 HG03453.hp1 others(1): Show HG01993.hp1 HG02523.hp2 HG03453.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0002t0001	a0001c0001t0003g0109 a0001c0001t0004g0123 a0001c0001t0015g0105 others(1): Show a0001c0001t0003g0109 a0001c0001t0004g0123 a0001c0001t0015g0105 a0001c0002t0001g0093	4	8	0.5000	40	c.141 others(59): Show c.1414+5962_1414+5963insGACACACACACACACACACACACACA CACACACACACACA	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	13/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARS2_chr6_5256513_5776583	5315717	T T	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01175.hp2 HG01109.hp1 HG01175.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0054 a0002c0002t0001g0066 a0001c0001t0001g0054 a0002c0002t0001g0066	2	139	0.0144	40	c.-21 others(59): Show c.-21-52813_-21-52812insCTTTCTTTCTTTCTTTCTTCCTTTCT TTCTTTCTTTCTTT	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(33): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01255.hp1 HG01258.hp1 others(8): Show HG01106.hp2 HG01255.hp1 HG01258.hp1 HG01361.hp1 HG01517.hp1 HG01934.hp2 HG01952.hp2 HG02055.hp1 HG02071.hp1 NA18968.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0039 others(8): Show a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0084 a0001c0001t0002g0110 a0001c0001t0002g0138 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0002g0160 a0002c0002t0001g0037 a0002c0002t0001g0069	11	150	0.0733	40	c.-21 others(59): Show c.-21-52813_-21-52812insCTTTCTTTCTTTCTTTCTTTCTTTCT TTTTTTCTTTCTTT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5539384	G G	GTGTGTAT others(33): Show GTGTGTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	59	0.0169	40	c.905 others(57): Show c.905-5795_905-5794insGTGTATATATATATATATATATATATAT ATATATATATAT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5717935	T T	TATAGAGA others(33): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	85	0.0118	40	c.121 others(61): Show c.1218-53355_1218-53354insTAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FASTKD1_chr2_169523508_169578865	169561716	A A	ATTATTCA others(33): Show ATTATTCATTATAAATTATTTATTAATTTATTATAAATTAT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0305 a0002c0002t0002g0305	1	383	0.0026	40	c.573 others(55): Show c.573-932_573-931insATAATTTATAATAAATTAATAAATAATTTA TAATGAATAA	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding	4/14			chr2	TogoVar
FAT1_chr4_186582794_186728856	186610576	T T	TTATAAAT others(33): Show TTATAAATATAAATTATATAAATATAAATTTATATAAATTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03453.hp2 NA20129.hp1 HG02055.hp1 HG03453.hp2 NA20129.hp1	a0026 a0086 a0026 a0086	a0026c0022 a0086c0112 a0026c0022 a0086c0112	a0026c0022t0029 a0026c0022t0054 a0086c0112t0041 a0026c0022t0029 a0026c0022t0054 a0086c0112t0041	a0026c0022t0029g0024 a0026c0022t0054g0329 a0086c0112t0041g0109 a0026c0022t0029g0024 a0026c0022t0054g0329 a0086c0112t0041g0109	3	336	0.0089	40	c.985 others(57): Show c.9854-601_9854-562dupTAATTTATATAAATTTATATTTATATAA TTTATATTTATA	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	14/26			chr4	TogoVar
FAT2_chr5_151499092_151596331	151534968	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0375 a0010c0011t0001g0375	1	392	0.0026	40	c.919 others(57): Show c.9194-327_9194-326insATATATATATATATATATATATATATAT ATATATATATAT	FAT2	ENSG00000086570.13	transcript	ENST00000261800.6	protein_coding	12/23			chr5	TogoVar
FAT2_chr5_151499092_151596331	151534970	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02071.hp2 HG02273.hp1 others(6): Show HG00642.hp1 HG02071.hp2 HG02273.hp1 NA18948.hp1 NA18957.hp2 NA18963.hp2 NA18975.hp1 NA18989.hp1 NA19079.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0015 a0026 a0063 a0064	a0001c0003 a0002c0001 a0003c0009 others(5): Show a0001c0003 a0002c0001 a0003c0009 a0006c0005 a0015c0041 a0026c0034 a0063c0072 a0064c0172	a0001c0003t0001 a0002c0001t0001 a0003c0009t0001 others(5): Show a0001c0003t0001 a0002c0001t0001 a0003c0009t0001 a0006c0005t0001 a0015c0041t0001 a0026c0034t0001 a0063c0072t0001 a0064c0172t0001	a0001c0003t0001g0260 a0002c0001t0001g0162 a0003c0009t0001g0132 others(6): Show a0001c0003t0001g0260 a0002c0001t0001g0162 a0003c0009t0001g0132 a0003c0009t0001g0341 a0006c0005t0001g0373 a0015c0041t0001g0104 a0026c0034t0001g0359 a0063c0072t0001g0207 a0064c0172t0001g0270	9	49	0.1837	40	c.919 others(57): Show c.9194-329_9194-328insATATATATATATATATATATATATATAT ATATATATATAT	FAT2	ENSG00000086570.13	transcript	ENST00000261800.6	protein_coding	12/23			chr5	TogoVar
FAT3_chr11_92219818_92901473	92368847	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATACATACATACAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0058 a0003c0019t0058	a0003c0019t0058g0110 a0003c0019t0058g0110	1	113	0.0088	40	c.329 others(61): Show c.3292+13444_3292+13445insTATATATATATATATATATATATA TATACATACATACACA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92753798	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0048 a0048	a0048c0058 a0048c0058	a0048c0058t0043 a0048c0058t0043	a0048c0058t0043g0082 a0048c0058t0043g0082	1	59	0.0169	40	c.367 others(59): Show c.3670-8047_3670-8046insATATATATATATATATATATATATAT ATATATATATATAT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92753798	G G	GTGTGTGT others(33): Show GTGTGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0005 a0005	a0005c0038 a0005c0038	a0005c0038t0056 a0005c0038t0056	a0005c0038t0056g0112 a0005c0038t0056g0112	1	59	0.0169	40	c.367 others(59): Show c.3670-8057_3670-8056insGTGTGTATATATATATATATATATAT ATATATATATATAT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92753798	G G	GTGTGTGT others(33): Show GTGTGTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0037 a0002c0001t0037	a0002c0001t0037g0035 a0002c0001t0037g0035	1	59	0.0169	40	c.367 others(59): Show c.3670-8057_3670-8056insGTGTGTGTATATATATATATATATAT ATATATATATATAT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FBLN1_chr22_45497883_45606135	45555272	A A	AATATATA others(33): Show AATATATATATATATATATATATATAAAATGGAATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0198	1	293	0.0034	40	c.169 others(59): Show c.1697+4676_1697+4677insTATATAAAATGGAATATATATATATA TATATATATATATA	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBLN7_chr2_112133385_112193218	112167869	C C	CGTTATGT others(33): Show CGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	42	0.0238	40	c.406 others(57): Show c.406+2712_406+2751dupATGTTATGTTATGTTATGTTATGTTATG TTATGTTATGTT	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FBN1_chr15_48403313_48650709	48567998	T T	TAAGAAAG others(33): Show TAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0165 a0002c0003t0005g0165	1	207	0.0048	40	c.538 others(59): Show c.538+28245_538+28284dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48568049	G G	GAAAGAAA others(33): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	153	0.0065	40	c.538 others(59): Show c.538+28233_538+28234insTCTTTCTTTCTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FBN2_chr5_128252909_128543245	128434394	G G	GTATATAT others(33): Show GTATATATATATATGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01258.hp2 HG01516.hp1 others(3): Show HG00639.hp1 HG01258.hp2 HG01516.hp1 HG02055.hp2 NA18522.hp1 NA18906.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0024	a0001c0001 a0002c0012 a0002c0044 others(3): Show a0001c0001 a0002c0012 a0002c0044 a0003c0002 a0003c0055 a0024c0066	a0001c0001t0013 a0002c0012t0001 a0002c0044t0004 others(3): Show a0001c0001t0013 a0002c0012t0001 a0002c0044t0004 a0003c0002t0005 a0003c0055t0008 a0024c0066t0021	a0001c0001t0013g0110 a0002c0012t0001g0139 a0002c0044t0004g0054 others(3): Show a0001c0001t0013g0110 a0002c0012t0001g0139 a0002c0044t0004g0054 a0003c0002t0005g0085 a0003c0055t0008g0092 a0024c0066t0021g0100	6	53	0.1132	40	c.952 others(59): Show c.952+12086_952+12087insTATATATATATATATATATATATATA CATATATATATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	7/64			chr5	TogoVar
FBN3_chr19_8060402_8154592	8130636	G G	GGAAGGAA others(33): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0125 a0125	a0125c0071 a0125c0071	a0125c0071t0002 a0125c0071t0002	a0125c0071t0002g0258 a0125c0071t0002g0258	1	146	0.0068	40	c.204 others(57): Show c.2044+598_2044+599insTCCTTTCCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FBN3_chr19_8060402_8154592	8130636	G G	GGAAGGAA others(33): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02074.hp2 HG02486.hp2 others(2): Show HG01934.hp1 HG02074.hp2 HG02486.hp2 HG02717.hp2 NA18998.hp1	a0025 a0038 a0042 others(2): Show a0025 a0038 a0042 a0085 a0094	a0025c0199 a0038c0104 a0042c0044 others(2): Show a0025c0199 a0038c0104 a0042c0044 a0085c0172 a0094c0102	a0025c0199t0002 a0038c0104t0005 a0042c0044t0001 others(2): Show a0025c0199t0002 a0038c0104t0005 a0042c0044t0001 a0085c0172t0001 a0094c0102t0001	a0025c0199t0002g0237 a0038c0104t0005g0017 a0042c0044t0001g0124 others(2): Show a0025c0199t0002g0237 a0038c0104t0005g0017 a0042c0044t0001g0124 a0085c0172t0001g0025 a0094c0102t0001g0331	5	150	0.0333	40	c.204 others(57): Show c.2044+598_2044+599insTCCTTTCCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FBN3_chr19_8060402_8154592	8130639	A A	AGAAAGAA others(33): Show AGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0168 a0001c0168	a0001c0168t0002 a0001c0168t0002	a0001c0168t0002g0274 a0001c0168t0002g0274	1	17	0.0588	40	c.204 others(57): Show c.2044+595_2044+596insCTTTCCTTTCCCTTCCTTCCTTCCTTCC TTTCTTTCTTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar

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