Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
F13A1_chr6_6139084_6325662	6262095	G G	GTGACCCT others(30): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0003 a0004c0011t0003	a0004c0011t0003g0079 a0004c0011t0003g0079	1	234	0.0043	37	c.571 others(54): Show c.571+4462_571+4463insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F7_chr13_113100791_113125685	113117603	A A	ACCACTCT others(30): Show ACCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp2 others(127): Show HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp2 HG01928.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp2 HG02602.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18956.hp1 NA18957.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18977.hp2 NA18978.hp1 NA18993.hp1 NA18993.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 others(2): Show a0001c0001 a0001c0009 a0002c0002 a0002c0007 a0002c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0009t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0008 a0002c0002t0011 a0002c0002t0021 a0002c0007t0011 a0002c0010t0015	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 others(77): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0108 a0001c0001t0004g0135 a0001c0001t0004g0178 a0001c0001t0004g0194 a0001c0001t0016g0200 a0001c0001t0019g0172 a0001c0001t0020g0011 a0001c0001t0023g0164 a0001c0009t0001g0004 a0002c0002t0001g0024 a0002c0002t0003g0012 a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0052 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0071 a0002c0002t0003g0132 a0002c0002t0003g0147 a0002c0002t0003g0161 a0002c0002t0003g0163 a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0003g0198 a0002c0002t0008g0012 a0002c0002t0008g0053 a0002c0002t0011g0124 a0002c0002t0021g0012 a0002c0007t0011g0065 a0002c0010t0015g0084	130	391	0.3325	37	c.739 others(50): Show c.739+15_739+51dupCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCC ACTCT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113117694	G G	GACCGCGG others(30): Show GACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0023 a0002c0002t0009g0023	2	398	0.0050	37	c.739 others(52): Show c.739+134_739+135insAACCGCGGTGCTGGGTGGGTGCCACTCTCC CCTGTCC	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113117724	C C	CCTGTCCG others(30): Show CCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02723.hp1 HG02559.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0061 a0001c0001t0012g0062 a0001c0001t0012g0061 a0001c0001t0012g0062	2	397	0.0050	37	c.739 others(52): Show c.739+155_739+191dupGCCACTCTCCGCTGTCCGACCGCGGTGCTG GGTGGGT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113117734	C C	CGCGGTGC others(30): Show CGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGGCG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp2 HG02630.hp1 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0042 a0001c0003t0010g0042	2	398	0.0050	37	c.739 others(52): Show c.739+164_739+165insCCTGTCCGGCGGCGGTGCTGGGTGGGTGCC ACTCTCC	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
FADS2_chr11_61823300_61872354	61861353	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0074 a0001c0001t0007g0074	1	109	0.0092	37	c.883 others(54): Show c.883-1601_883-1600insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAF2_chr5_176443385_176515074	176466813	G G	GTAGGAAA others(30): Show GTAGGAAAGTAGTATAGAATAGTTCACACACTTCCCCA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02145.hp2 HG02257.hp1 others(5): Show HG00733.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02615.hp2 HG03453.hp2 HG03516.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0009 others(5): Show a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0022	8	370	0.0216	37	c.64- others(54): Show c.64-12374_64-12338dupTAGGAAAGTAGTATAGAATAGTTCACAC ACTTCCCCA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM110B_chr8_57989523_58153784	58006923	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0179 a0001c0001t0009g0179	1	145	0.0069	37	c.-51 others(58): Show c.-512+12118_-512+12119insATATATATATATATATATATATAT TTTTTTTTTTTTT	FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM120B_chr6_170301758_170412067	170398575	C C	CCTTAGGA others(30): Show CCTTAGGAGTGAGTGGGGAAGGTAGAACTGTCATAACT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0082 a0001c0001t0010g0082	1	266	0.0038	37	c.269 others(56): Show c.2692+3024_2692+3025insGTCATAACTCTTAGGAGTGAGTGGGG AAGGTAGAACT	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170398614	T T	TCTTAGGA others(30): Show TCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp2 HG01070.hp1 others(32): Show HG00280.hp1 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG02015.hp1 HG02109.hp2 HG02129.hp1 HG02155.hp2 HG02258.hp2 HG02559.hp2 HG02572.hp1 HG02717.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG03098.hp1 HG03453.hp2 HG03490.hp2 HG03492.hp1 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18939.hp1 NA18952.hp1 NA18971.hp1 NA18979.hp1 NA19081.hp2 NA20905.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0008c0016 a0009c0014	a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 others(6): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0002t0007 a0001c0002t0030 a0002c0003t0007 a0008c0016t0008 a0009c0014t0009	a0001c0001t0008g0002 a0001c0001t0008g0190 a0001c0001t0008g0192 others(26): Show a0001c0001t0008g0002 a0001c0001t0008g0190 a0001c0001t0008g0192 a0001c0001t0008g0193 a0001c0001t0008g0194 a0001c0001t0008g0197 a0001c0001t0008g0268 a0001c0001t0009g0011 a0001c0001t0009g0186 a0001c0001t0009g0187 a0001c0001t0009g0188 a0001c0001t0009g0189 a0001c0001t0009g0275 a0001c0001t0010g0094 a0001c0001t0010g0095 a0001c0001t0016g0195 a0001c0001t0016g0196 a0001c0002t0007g0001 a0001c0002t0007g0009 a0001c0002t0007g0010 a0001c0002t0007g0180 a0001c0002t0007g0182 a0001c0002t0007g0183 a0001c0002t0007g0184 a0001c0002t0030g0181 a0002c0003t0007g0111 a0002c0003t0007g0144 a0008c0016t0008g0002 a0009c0014t0009g0191	35	288	0.1215	37	c.269 others(56): Show c.2692+3038_2692+3039insAGGAGTGAGTGGGGAAGGTAGAACTA TGTCATAACTT	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170399234	T T	TTAGGAGT others(30): Show TTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02145.hp2 HG02809.hp2 others(6): Show HG01069.hp2 HG02145.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG03041.hp1 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0024 a0001c0002t0001 a0001c0002t0024	a0001c0002t0001g0022 a0001c0002t0001g0031 a0001c0002t0001g0042 others(6): Show a0001c0002t0001g0022 a0001c0002t0001g0031 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0100 a0001c0002t0024g0032	9	288	0.0313	37	c.269 others(56): Show c.2692+3655_2692+3656insTAGGAGTGAGTGGGAAAGGTAGAACT ATGTCATAACC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10			chr6	TogoVar
FAM135A_chr6_70408508_70566174	70534312	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0265 a0001c0004t0007g0265	1	148	0.0068	37	c.396 others(54): Show c.3965+483_3965+484insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	FAM135A	ENSG00000082269.17	transcript	ENST00000418814.7	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM135B_chr8_138125023_138502261	138244304	A A	AAAAGAAT others(30): Show AAAAGAATGTGTCCAGAGATGATCCTCAGAGTATGGTC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01934.hp2 HG01952.hp1 others(12): Show HG01099.hp2 HG01934.hp2 HG01952.hp1 HG01993.hp2 HG02015.hp1 HG02109.hp2 HG02280.hp1 HG02280.hp2 HG03225.hp2 NA18971.hp1 NA18972.hp1 NA18994.hp2 NA19009.hp2 NA19012.hp2 NA19088.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0001c0005 others(6): Show a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0002 a0002c0008 a0002c0028 a0003c0001 a0003c0020	a0001c0003t0003 a0001c0004t0002 a0001c0004t0008 others(8): Show a0001c0003t0003 a0001c0004t0002 a0001c0004t0008 a0001c0005t0001 a0001c0007t0040 a0002c0002t0001 a0002c0008t0001 a0002c0028t0003 a0003c0001t0004 a0003c0001t0039 a0003c0020t0004	a0001c0003t0003g0105 a0001c0004t0002g0150 a0001c0004t0008g0128 others(12): Show a0001c0003t0003g0105 a0001c0004t0002g0150 a0001c0004t0008g0128 a0001c0005t0001g0052 a0001c0007t0040g0191 a0002c0002t0001g0009 a0002c0002t0001g0025 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0099 a0002c0008t0001g0107 a0002c0028t0003g0097 a0003c0001t0004g0055 a0003c0001t0039g0196 a0003c0020t0004g0076	15	210	0.0714	37	c.543 others(54): Show c.543-1273_543-1237dupGACCATACTCTGAGGATCATCTCTGGAC ACATTCTTT	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	6/19			chr8	TogoVar
FAM151B_chr5_80483100_80547563	80494456	T T	TTTCTTTC others(30): Show TTTCTTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03471.hp2 HG01884.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0278 a0001c0001t0001g0279	2	237	0.0084	37	c.25+ others(52): Show c.25+6310_25+6311insCTTTCTTTTCTTTTCTTTCTTTCTTTCTTT CTTTCTT	FAM151B	ENSG00000152380.10	transcript	ENST00000282226.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM168A_chr11_73395487_73603112	73545038	A A	ATAATATA others(30): Show ATAATATATATATAAAATATATTATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG02055.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0032 a0001c0001t0017g0078 a0001c0001t0017g0032 a0001c0001t0017g0078	2	176	0.0114	37	c.-19 others(56): Show c.-19+52884_-19+52885insAATATATATATATATAATATATTTTA TATATATATTA	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FAM168A_chr11_73395487_73603112	73545038	A A	ATAATATA others(30): Show ATAATATATATATATAATATATTATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19043.hp2 HG02572.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0128 a0001c0001t0018g0130 a0001c0001t0018g0128 a0001c0001t0018g0130	2	176	0.0114	37	c.-19 others(56): Show c.-19+52884_-19+52885insAATATATATATATATAATATATTATA TATATATATTA	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FAM174B_chr15_92612448_92660775	92631162	A A	ACGTATTA others(30): Show ACGTATTACATATTACATATTATATATTATATATTACG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01243.hp1 others(8): Show HG00735.hp1 HG00735.hp2 HG01243.hp1 HG01516.hp1 HG02735.hp2 HG03130.hp1 NA18979.hp2 NA18986.hp1 NA19012.hp1 NA19065.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0019 a0001c0001t0020 a0001c0001t0052 a0001c0008t0001	a0001c0001t0001g0317 a0001c0001t0002g0094 a0001c0001t0004g0069 others(8): Show a0001c0001t0001g0317 a0001c0001t0002g0094 a0001c0001t0004g0069 a0001c0001t0004g0103 a0001c0001t0005g0056 a0001c0001t0009g0106 a0001c0001t0010g0091 a0001c0001t0019g0307 a0001c0001t0020g0110 a0001c0001t0052g0057 a0001c0008t0001g0011	11	295	0.0373	37	c.345 others(52): Show c.345-818_345-817insCGTAATATATAATATATAATATGTAATATG TAATACG	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	50	0.0200	37	c.291 others(56): Show c.2916-3057_2916-3056insAAAAATATATATATATATATATATAT ATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	50	0.0200	37	c.291 others(56): Show c.2916-3057_2916-3056insAAAAAAATATATATATATATATATAT ATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	50	0.0200	37	c.291 others(56): Show c.2916-3057_2916-3056insAAAAAAAAAAATATATATATATATAT ATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(30): Show ATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0008 a0008	a0008c0005 a0008c0005	a0008c0005t0001 a0008c0005t0001	a0008c0005t0001g0036 a0008c0005t0001g0036	1	50	0.0200	37	c.291 others(56): Show c.2916-3057_2916-3056insAAAAAAAAAAAAAAATATATATATAT ATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(30): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	50	0.0200	37	c.291 others(56): Show c.2916-3057_2916-3056insAAAAAAAAAAAAAAAAAAAAATATAT ATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM186A_chr12_50322309_50401609	50346215	G G	GAGAGAGA others(30): Show GAGAGAGAGAAGGAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0188 a0002c0002t0001g0188	1	86	0.0116	37	c.650 others(56): Show c.6503+4113_6503+4114insTTCTTTCTTTCTTTCTTTCTTTCTTC CTTCTCTCTCT	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/7			chr12	TogoVar
FAM210A_chr18_13658347_13731558	13675079	A A	ATTTCGTT others(30): Show ATTTCGTTTCCTGATTATTAACATTCCTGAGCCCCGAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03579.hp2 NA18949.hp2 HG02257.hp1 HG03579.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0023 a0001c0001t0022 a0001c0001t0023	a0001c0001t0022g0011 a0001c0001t0023g0131 a0001c0001t0022g0011 a0001c0001t0023g0131	3	213	0.0141	37	c.474 others(54): Show c.474-3107_474-3106insGTCGGGGCTCAGGAATGTTAATAATCAG GAAACGAAA	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM227B_chr15_49321970_49625818	49624909	A A	AGCACCTA others(30): Show AGCACCTATTTATGCTAATGTTCTAGATATCAACTGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	292	0.0034	37	c.-42 others(48): Show c.-4283_-4282insAGCAGTTGATATCTAGAACATTAGCATAAATAGG TGC	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding		4092		chr15	TogoVar
FAM241A_chr4_112140454_112200256	112197333	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 NA18970.hp2 others(1): Show HG00408.hp1 HG00438.hp1 NA18970.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0038 a0001c0001t0093 a0001c0001t0007 a0001c0001t0038 a0001c0001t0093	a0001c0001t0007g0121 a0001c0001t0007g0123 a0001c0001t0038g0005 others(1): Show a0001c0001t0007g0121 a0001c0001t0007g0123 a0001c0001t0038g0005 a0001c0001t0093g0005	4	11	0.3636	37	c.10 others(50): Show c.10395_*10396insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	FAM241A	ENSG00000174749.6	transcript	ENST00000309733.6	protein_coding		2078		chr4	TogoVar
FAM3A_chrX_154501171_154521232	154515111	C C	CCATGAGT others(30): Show CCATGAGTCCAGCATCTCGCGCAGTCGTACAGAGCTCA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	337	0.0030	37	c.13+ others(50): Show c.13+648_13+649insTGAGCTCTGTACGACTGCGCGAGATGCTGGAC TCATG	FAM3A	ENSG00000071889.17	transcript	ENST00000447601.7	protein_coding	1/8			chrX	TogoVar
FAM83B_chr6_54841771_54950099	54888274	T T	TTATTGTT others(30): Show TTATTGTTTTAATAATAATAATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03195.hp1 HG03491.hp2 others(6): Show HG00544.hp1 HG03195.hp1 HG03491.hp2 NA18943.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA19056.hp2 NA19089.hp2	a0001 a0001	a0001c0008 a0001c0021 a0001c0008 a0001c0021	a0001c0008t0005 a0001c0008t0025 a0001c0021t0005 a0001c0008t0005 a0001c0008t0025 a0001c0021t0005	a0001c0008t0005g0012 a0001c0008t0005g0013 a0001c0008t0005g0014 others(6): Show a0001c0008t0005g0012 a0001c0008t0005g0013 a0001c0008t0005g0014 a0001c0008t0005g0015 a0001c0008t0005g0016 a0001c0008t0005g0018 a0001c0008t0005g0036 a0001c0008t0025g0019 a0001c0021t0005g0044	9	270	0.0333	37	c.444 others(56): Show c.444+17595_444+17596insTAATAATAATAATAATAATAATAATA TATTGTTTTAA	FAM83B	ENSG00000168143.9	transcript	ENST00000306858.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
FANCA_chr16_89732549_89821647	89771155	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0004 a0006c0007t0004	a0006c0007t0004g0318 a0006c0007t0004g0318	1	272	0.0037	37	c.215 others(54): Show c.2151+522_2152-521insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	23/42			chr16	TogoVar
FANCD2_chr3_10021437_10106932	10069459	G G	GGCTCTCC others(30): Show GGCTCTCCCTCTCCCCCTCCCCCCTCCCCCTCCCCTTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0163 a0003c0004t0003g0163	1	174	0.0057	37	c.249 others(56): Show c.2494+2142_2494+2143insGCTCTCCCTCTCCCCCTCCCCCCTCC CCCTCCCCTTC	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	26/43			chr3	TogoVar
FANCM_chr14_45130930_45205890	45135090	T T	TAAGCTCG others(30): Show TAAGCTCGCACTCAGTGATGCAATTTCTCAGATAACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0017 a0007c0009t0001g0017	1	236	0.0042	37	c.-94 others(46): Show c.-942_-941insAAGCTCGCACTCAGTGATGCAATTTCTCAGATAACA G	FANCM	ENSG00000187790.12	transcript	ENST00000267430.10	protein_coding		839		chr14	TogoVar
FARP1_chr13_98138094_98460176	98153489	C C	CATTATAT others(30): Show CATTATATAAAAATATGTATAAATATATATTTATACAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0154 a0001c0001t0015g0154	1	148	0.0068	37	c.-24 others(56): Show c.-24+10031_-24+10032insCATATTATATAAAAATATGTATAAAT ATATATTTATA	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP2_chr2_241351285_241499841	241355498	A A	AAGCCTAG others(30): Show AAGCCTAGGCCTCGCCCAGCACCTATCCGCGCCCAGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0378 a0001c0001t0001g0378	1	357	0.0028	37	c.-91 others(46): Show c.-915_-914insAGCCTAGGCCTCGCCCAGCACCTATCCGCGCCCAGC G	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding		786		chr2	TogoVar
FARP2_chr2_241351285_241499841	241355590	A A	AGACCTAG others(30): Show AGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(85): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00733.hp1 HG00741.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01496.hp1 HG01891.hp2 HG01934.hp1 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02258.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp2 HG03491.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18970.hp1 NA18977.hp1 NA18979.hp2 NA18982.hp2 NA18988.hp1 NA18995.hp2 NA19002.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19043.hp2 NA19062.hp2 NA19063.hp2 NA19068.hp2 NA19074.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0010 a0017 a0019	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0001c0019 a0001c0022 a0003c0005 a0004c0007 a0010c0020 a0017c0026 a0019c0024	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0003t0001 a0001c0004t0001 a0001c0011t0001 a0001c0019t0001 a0001c0022t0001 a0003c0005t0001 a0004c0007t0001 a0010c0020t0001 a0017c0026t0001 a0019c0024t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0063 others(85): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0005g0126 a0001c0001t0009g0106 a0001c0003t0001g0028 a0001c0004t0001g0143 a0001c0011t0001g0107 a0001c0011t0001g0108 a0001c0019t0001g0111 a0001c0022t0001g0129 a0003c0005t0001g0042 a0003c0005t0001g0044 a0003c0005t0001g0051 a0004c0007t0001g0096 a0004c0007t0001g0097 a0004c0007t0001g0100 a0004c0007t0001g0101 a0004c0007t0001g0102 a0004c0007t0001g0105 a0004c0007t0001g0114 a0004c0007t0001g0115 a0004c0007t0001g0121 a0004c0007t0001g0130 a0004c0007t0001g0156 a0010c0020t0001g0155 a0017c0026t0001g0118 a0019c0024t0001g0087	88	209	0.4211	37	c.-82 others(46): Show c.-823_-822insGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCA G	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding		694		chr2	TogoVar
FARP2_chr2_241351285_241499841	241355611	G G	GCCGACTC others(30): Show GCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00642.hp1 others(35): Show HG00099.hp2 HG00140.hp1 HG00642.hp1 HG00642.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG02257.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03017.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03579.hp2 HG04199.hp1 NA18906.hp1 NA18906.hp2 NA19240.hp2 NA20805.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0015 a0001c0025 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0004t0001 a0001c0015t0002 a0001c0025t0001 a0006c0009t0001	a0001c0001t0001g0158 a0001c0001t0002g0372 a0001c0001t0002g0373 others(35): Show a0001c0001t0001g0158 a0001c0001t0002g0372 a0001c0001t0002g0373 a0001c0001t0002g0374 a0001c0001t0002g0375 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0004t0001g0157 a0001c0004t0001g0159 a0001c0004t0001g0162 a0001c0004t0001g0163 a0001c0004t0001g0164 a0001c0004t0001g0165 a0001c0004t0001g0166 a0001c0004t0001g0167 a0001c0004t0001g0168 a0001c0004t0001g0169 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0172 a0001c0004t0001g0173 a0001c0004t0001g0174 a0001c0004t0001g0175 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0001g0179 a0001c0004t0001g0182 a0001c0004t0001g0359 a0001c0004t0001g0360 a0001c0015t0002g0371 a0001c0025t0001g0160 a0006c0009t0001g0183 a0006c0009t0001g0184 a0006c0009t0001g0185 a0006c0009t0001g0186 a0006c0009t0001g0187	38	324	0.1173	37	c.-80 others(46): Show c.-802_-801insCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGA A	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding		673		chr2	TogoVar
FARP2_chr2_241351285_241499841	241355685	G G	GCCGACTC others(30): Show GCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG01071.hp2 others(3): Show HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01167.hp1 HG01169.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0010 a0001c0001 a0001c0004 a0001c0010	a0001c0001t0001 a0001c0004t0001 a0001c0010t0001 a0001c0001t0001 a0001c0004t0001 a0001c0010t0001	a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0004t0001g0362 others(3): Show a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0004t0001g0362 a0001c0010t0001g0363 a0001c0010t0001g0364 a0001c0010t0001g0365	6	367	0.0163	37	c.-72 others(46): Show c.-728_-727insCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGA A	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding		599		chr2	TogoVar
FAT2_chr5_151499092_151596331	151534970	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0059 a0059	a0059c0142 a0059c0142	a0059c0142t0001 a0059c0142t0001	a0059c0142t0001g0256 a0059c0142t0001g0256	1	41	0.0244	37	c.919 others(54): Show c.9194-329_9194-328insATATATATATATATATATATATATATAT ATATATATA	FAT2	ENSG00000086570.13	transcript	ENST00000261800.6	protein_coding	12/23			chr5	TogoVar
FAT3_chr11_92219818_92901473	92754627	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0058 a0003c0019t0058	a0003c0019t0058g0110 a0003c0019t0058g0110	1	27	0.0370	37	c.367 others(56): Show c.3670-7211_3670-7210insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FBLN1_chr22_45497883_45606135	45568651	A A	AGTGCTCC others(30): Show AGTGCTCCTTCTGTAGGGGAATGCTCCTTCTGTAGGGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19062.hp1 NA19062.hp2 HG02622.hp1 NA19062.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0120 a0001c0001t0001g0291 a0001c0002t0001g0202 a0001c0001t0001g0120 a0001c0001t0001g0291 a0001c0002t0001g0202	3	304	0.0099	37	c.169 others(56): Show c.1698-5860_1698-5859insGTGCTCCTTCTGTAGGGGAATGCTCC TTCTGTAGGGC	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16			chr22	TogoVar
FBN2_chr5_128252909_128543245	128539949	T T	TATATATG others(30): Show TATATATGATAGATCATATATGATCTATCATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0027 a0027	a0027c0047 a0027c0047	a0027c0047t0002 a0027c0047t0002	a0027c0047t0002g0058 a0027c0047t0002g0058	1	219	0.0046	37	c.-23 others(48): Show c.-2347_-2346insGATATATATGATAGATCATATATGATCTATCATA TAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1705		chr5	TogoVar
FBN3_chr19_8060402_8154592	8130636	G G	GGAAGGAA others(30): Show GGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02602.hp1 NA20129.hp2 HG02258.hp2 HG02602.hp1 NA20129.hp2	a0004 a0014 a0158 a0004 a0014 a0158	a0004c0004 a0014c0018 a0158c0066 a0004c0004 a0014c0018 a0158c0066	a0004c0004t0001 a0014c0018t0001 a0158c0066t0001 a0004c0004t0001 a0014c0018t0001 a0158c0066t0001	a0004c0004t0001g0221 a0014c0018t0001g0226 a0158c0066t0001g0293 a0004c0004t0001g0221 a0014c0018t0001g0226 a0158c0066t0001g0293	3	148	0.0203	37	c.204 others(54): Show c.2044+598_2044+599insTCCTTTCCTTTCCTTTCCTTCCTTCCTT CCTTCCTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FBN3_chr19_8060402_8154592	8130636	G G	GGAAGGAA others(30): Show GGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18944.hp1 NA18944.hp2 others(1): Show HG02615.hp1 NA18944.hp1 NA18944.hp2 NA19085.hp2	a0005 a0025 a0026 others(1): Show a0005 a0025 a0026 a0049	a0005c0005 a0025c0035 a0026c0022 others(1): Show a0005c0005 a0025c0035 a0026c0022 a0049c0027	a0005c0005t0002 a0025c0035t0001 a0026c0022t0001 others(1): Show a0005c0005t0002 a0025c0035t0001 a0026c0022t0001 a0049c0027t0001	a0005c0005t0002g0138 a0025c0035t0001g0304 a0026c0022t0001g0355 others(1): Show a0005c0005t0002g0138 a0025c0035t0001g0304 a0026c0022t0001g0355 a0049c0027t0001g0359	4	149	0.0268	37	c.204 others(54): Show c.2044+598_2044+599insTCCTTTCCTTTCCCTTCCTTCCTTCCTT CCTTCCTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FBRSL1_chr12_132485151_132590188	132555310	C C	CCGTGGCC others(30): Show CCGTGGCCTCCACGGTAGCCGCCCCACCCGAGCGTGAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02055.hp2 HG02109.hp1 others(3): Show HG01175.hp2 HG02055.hp2 HG02109.hp1 HG02970.hp1 HG03130.hp2 NA19043.hp2	a0001 a0004 a0007 others(2): Show a0001 a0004 a0007 a0008 a0023	a0001c0003 a0004c0062 a0007c0071 others(2): Show a0001c0003 a0004c0062 a0007c0071 a0008c0027 a0023c0037	a0001c0003t0018 a0004c0062t0041 a0007c0071t0011 others(2): Show a0001c0003t0018 a0004c0062t0041 a0007c0071t0011 a0008c0027t0008 a0023c0037t0011	a0001c0003t0018g0065 a0004c0062t0041g0139 a0007c0071t0011g0070 others(3): Show a0001c0003t0018g0065 a0004c0062t0041g0139 a0007c0071t0011g0070 a0008c0027t0008g0180 a0023c0037t0011g0071 a0023c0037t0011g0073	6	344	0.0174	37	c.645 others(54): Show c.645+7354_645+7390dupGTGGCCTCCACGGTAGCCGCCCCACCCG AGCGTGAGC	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132555429	T T	TCCACGGT others(30): Show TCCACGGTAGCCGCCCCACCCGAACGTGAGCGTGGGGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp2 HG02818.hp1 others(1): Show HG02615.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0027 a0001c0011t0028 a0001c0011t0032 others(1): Show a0001c0011t0027 a0001c0011t0028 a0001c0011t0032 a0001c0011t0035	a0001c0011t0027g0336 a0001c0011t0028g0335 a0001c0011t0032g0236 others(1): Show a0001c0011t0027g0336 a0001c0011t0028g0335 a0001c0011t0032g0236 a0001c0011t0035g0337	4	346	0.0116	37	c.645 others(54): Show c.645+7407_645+7408insCGCCCCACCCGAACGTGAGCGTGGGGGC CACGGTAGC	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132555443	G G	GCCACCCG others(30): Show GCCACCCGAGCGTGAGCGTGGCCTCCACGGTAGCCGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(97): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01978.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp2 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02735.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18960.hp2 NA18966.hp2 NA18984.hp1 NA18990.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19057.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0005 a0013 a0017 a0019 a0022 a0026 a0033 a0037 a0044	a0001c0003 a0001c0005 a0001c0006 others(26): Show a0001c0003 a0001c0005 a0001c0006 a0001c0011 a0001c0012 a0001c0021 a0001c0068 a0001c0086 a0002c0002 a0002c0004 a0002c0050 a0004c0015 a0004c0030 a0004c0067 a0004c0069 a0005c0051 a0005c0052 a0005c0053 a0005c0054 a0013c0034 a0013c0065 a0013c0066 a0017c0019 a0019c0018 a0022c0057 a0026c0070 a0033c0061 a0037c0079 a0044c0077	a0001c0003t0001 a0001c0003t0003 a0001c0003t0013 others(39): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0013 a0001c0003t0036 a0001c0005t0003 a0001c0005t0005 a0001c0006t0007 a0001c0006t0016 a0001c0006t0025 a0001c0011t0012 a0001c0012t0006 a0001c0012t0007 a0001c0012t0016 a0001c0021t0003 a0001c0068t0003 a0001c0086t0006 a0002c0002t0001 a0002c0004t0001 a0002c0004t0002 a0002c0050t0002 a0004c0015t0001 a0004c0015t0003 a0004c0015t0007 a0004c0015t0023 a0004c0030t0012 a0004c0067t0003 a0004c0069t0003 a0005c0051t0015 a0005c0052t0005 a0005c0053t0005 a0005c0054t0001 a0013c0034t0005 a0013c0065t0013 a0013c0066t0003 a0017c0019t0005 a0019c0018t0006 a0019c0018t0008 a0022c0057t0008 a0026c0070t0015 a0033c0061t0006 a0037c0079t0003 a0044c0077t0001	a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(95): Show a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0018 a0001c0003t0001g0129 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0003g0019 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0023 a0001c0003t0003g0024 a0001c0003t0003g0025 a0001c0003t0003g0037 a0001c0003t0003g0038 a0001c0003t0003g0043 a0001c0003t0003g0044 a0001c0003t0003g0047 a0001c0003t0003g0048 a0001c0003t0003g0049 a0001c0003t0003g0051 a0001c0003t0003g0053 a0001c0003t0003g0054 a0001c0003t0003g0055 a0001c0003t0003g0056 a0001c0003t0003g0057 a0001c0003t0003g0059 a0001c0003t0003g0060 a0001c0003t0003g0061 a0001c0003t0003g0062 a0001c0003t0003g0267 a0001c0003t0013g0001 a0001c0003t0036g0128 a0001c0005t0003g0078 a0001c0005t0005g0052 a0001c0005t0005g0075 a0001c0005t0005g0076 a0001c0005t0005g0091 a0001c0005t0005g0092 a0001c0005t0005g0093 a0001c0005t0005g0094 a0001c0005t0005g0096 a0001c0005t0005g0098 a0001c0005t0005g0099 a0001c0005t0005g0263 a0001c0005t0005g0264 a0001c0005t0005g0265 a0001c0005t0005g0292 a0001c0006t0007g0079 a0001c0006t0016g0140 a0001c0006t0025g0009 a0001c0011t0012g0143 a0001c0012t0006g0085 a0001c0012t0006g0086 a0001c0012t0007g0004 a0001c0012t0016g0081 a0001c0021t0003g0030 a0001c0021t0003g0032 a0001c0021t0003g0033 a0001c0068t0003g0007 a0001c0086t0006g0126 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0042 a0002c0004t0001g0008 a0002c0004t0002g0010 a0002c0004t0002g0039 a0002c0004t0002g0045 a0002c0004t0002g0089 a0002c0004t0002g0125 a0002c0004t0002g0127 a0002c0050t0002g0087 a0004c0015t0001g0014 a0004c0015t0003g0050 a0004c0015t0007g0080 a0004c0015t0023g0026 a0004c0030t0012g0142 a0004c0030t0012g0144 a0004c0067t0003g0036 a0004c0069t0003g0031 a0005c0051t0015g0041 a0005c0052t0005g0090 a0005c0053t0005g0077 a0005c0054t0001g0069 a0013c0034t0005g0097 a0013c0065t0013g0001 a0013c0066t0003g0035 a0017c0019t0005g0095 a0017c0019t0005g0124 a0019c0018t0006g0066 a0019c0018t0008g0002 a0022c0057t0008g0067 a0026c0070t0015g0027 a0033c0061t0006g0068 a0037c0079t0003g0034 a0044c0077t0001g0058	100	319	0.3135	37	c.645 others(54): Show c.645+7416_645+7417insCGAGCGTGAGCGTGGCCTCCACGGTAGC CGCCCCACC	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132555443	G G	GCCACCTG others(30): Show GCCACCTGAGCGTGAGCGTGGCCTCCACGGTAGCCGCC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0046 a0001c0003t0003g0046	1	220	0.0045	37	c.645 others(54): Show c.645+7416_645+7417insTGAGCGTGAGCGTGGCCTCCACGGTAGC CGCCCCACC	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132555444	C C	CCACCCGA others(30): Show CCACCCGAGCGTGAGCGTGGCCTCCACGGTAGCCGCAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp2 HG01109.hp2 others(9): Show HG00140.hp2 HG01074.hp2 HG01109.hp2 HG01361.hp2 HG02451.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03704.hp1 NA18522.hp1 NA20752.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0013 a0022	a0001c0005 a0001c0006 a0002c0004 others(4): Show a0001c0005 a0001c0006 a0002c0004 a0004c0020 a0013c0034 a0013c0064 a0022c0058	a0001c0005t0004 a0001c0005t0008 a0001c0006t0006 others(5): Show a0001c0005t0004 a0001c0005t0008 a0001c0006t0006 a0002c0004t0001 a0004c0020t0007 a0013c0034t0004 a0013c0064t0006 a0022c0058t0006	a0001c0005t0004g0100 a0001c0005t0004g0112 a0001c0005t0008g0122 others(9): Show a0001c0005t0004g0100 a0001c0005t0004g0112 a0001c0005t0008g0122 a0001c0005t0008g0141 a0001c0006t0006g0105 a0001c0006t0006g0109 a0001c0006t0006g0110 a0002c0004t0001g0111 a0004c0020t0007g0123 a0013c0034t0004g0113 a0013c0064t0006g0106 a0022c0058t0006g0108	12	346	0.0347	37	c.645 others(54): Show c.645+7416_645+7417insCGAGCGTGAGCGTGGCCTCCACGGTAGC CGCAGCACC	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXL17_chr5_107854035_108387098	107980664	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	54	0.0185	37	c.182 others(58): Show c.1822+40260_1822+40261insAAAAATATATATATATATATATAT ATATATATATATA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	107980664	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0231 a0002c0003t0005g0231	1	54	0.0185	37	c.182 others(58): Show c.1822+40260_1822+40261insAAAAAAATATATATATATATATAT ATATATATATATA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	107980664	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA18948.hp1 HG02300.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0088 a0001c0001t0002g0171 a0001c0001t0001g0088 a0001c0001t0002g0171	2	55	0.0364	37	c.182 others(58): Show c.1822+40260_1822+40261insAAAAAAAAATATATATATATATAT ATATATATATATA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar

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