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
SYNPO2_chr4_118883854_119066247	118890729	C C	CTCTCTCT others(26): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	308	0.0032	33	c.105 others(50): Show c.105+1593_105+1594insCTCTCTCTCTCTCTCTCTCTCTCTCTCT TCTCT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPR_chr3_63273308_63621924	63408277	G G	GAAAGAAA others(26): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	185	0.0054	33	c.85- others(50): Show c.85-72554_85-72553insAAGAAAGAAAGAAAGAAAGAAAGAAGGA AGGAA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63408324	G G	GAAAGAAA others(26): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	242	0.0041	33	c.85- others(50): Show c.85-72505_85-72473dupAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT11_chr1_155854567_155890199	155854890	C C	CCGGGCGT others(26): Show CCGGGCGTGGTGGCACACGCCTGTGATCCCAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	312	0.0032	33	c.-48 others(44): Show c.-4872_-4871insCGGGCGTGGTGGCACACGCCTGTGATCCCAGCT	SYT11	ENSG00000132718.9	transcript	ENST00000368324.5	protein_coding		4676		chr1	TogoVar
SYT11_chr1_155854567_155890199	155859436	T T	TTTCGGAA others(26): Show TTTCGGAAGAGGCGGAGTCTTCTTCCGAGGACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG01516.hp2 others(3): Show HG00738.hp2 HG01081.hp1 HG01516.hp2 HG03017.hp1 HG03927.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0034 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0034	6	312	0.0192	33	c.-32 others(42): Show c.-326_-325insTTCGGAAGAGGCGGAGTCTTCTTCCGAGGACCA	SYT11	ENSG00000132718.9	transcript	ENST00000368324.5	protein_coding		130		chr1	TogoVar
SYT1_chr12_78859774_79457008	79349057	G G	GAAAGAAA others(26): Show GAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0024 a0001c0001t0006g0024	1	57	0.0175	33	c.811 others(50): Show c.811-4445_811-4444insAAAGAAAAAGAAAGAAAAAGAAAGAAAG AAAGA	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	8/10			chr12	TogoVar
TACR1_chr2_75041463_75204520	75094859	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02895.hp2 HG02723.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0025 a0001c0001t0003 a0001c0001t0025	a0001c0001t0003g0041 a0001c0001t0025g0104 a0001c0001t0003g0041 a0001c0001t0025g0104	2	134	0.0149	33	c.584 others(52): Show c.584+25714_584+25715insAAAAATATATATATATATATATATAT ATATATA	TACR1	ENSG00000115353.11	transcript	ENST00000305249.10	protein_coding	2/4			chr2	TogoVar
TACR1_chr2_75041463_75204520	75094860	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0209 a0001c0002t0024g0209	1	245	0.0041	33	c.584 others(52): Show c.584+25713_584+25714insTATATATATATATATATATATATATA TATATAT	TACR1	ENSG00000115353.11	transcript	ENST00000305249.10	protein_coding	2/4			chr2	TogoVar
TACR3_chr4_103581031_103724985	103650537	A A	ATTTATAT others(26): Show ATTTATATATAGAATATGTTATTATTCTATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0276 a0001c0001t0046g0276	1	278	0.0036	33	c.888 others(50): Show c.888+5656_888+5657insATATATAGAATAATAACATATTCTATAT ATAAA	TACR3	ENSG00000169836.5	transcript	ENST00000304883.3	protein_coding	3/4			chr4	TogoVar
TAF1_chrX_71361357_71471005	71370422	C C	CTGCAACT others(26): Show CTGCAACTTCCACCTACCAGGTTCAAGTGATTCT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0190 a0001c0002t0001g0190	1	198	0.0051	33	c.352 others(50): Show c.352+2269_352+2270insAGGTTCAAGTGATTCTTGCAACTTCCAC CTACC	TAF1	ENSG00000147133.17	transcript	ENST00000423759.6	protein_coding	3/37		INFO_REALIGN_3_PRIME	chrX	TogoVar
TAF6L_chr11_62766396_62792342	62779976	A A	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	159	0.0063	33	c.531 others(50): Show c.531+1014_531+1015insATATATATATATATATATATATTTTTTT TTTTT	TAF6L	ENSG00000162227.8	transcript	ENST00000294168.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
TAFA1_chr3_67999247_68550621	68022844	A A	ATATATAT others(26): Show ATATATATATATATTATATATAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	153	0.0065	33	c.118 others(52): Show c.118+16113_118+16114insTATATATAATATATATATATTATATA TATATAT	TAFA1	ENSG00000183662.12	transcript	ENST00000478136.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAFA1_chr3_67999247_68550621	68127935	A A	AGTGGTGG others(26): Show AGTGGTGGTGATGATGCTAATGGAAGTGGTGATG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG02622.hp2 others(4): Show HG01884.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG03139.hp1 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 others(4): Show a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0010g0041	7	156	0.0449	33	c.118 others(54): Show c.118+121207_118+121239dupCTAATGGAAGTGGTGATGGTGGTG GTGATGATG	TAFA1	ENSG00000183662.12	transcript	ENST00000478136.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAFA2_chr12_61703273_62197773	61724801	G G	GTGTGTGT others(26): Show GTGTGTGTGTATACACCAGATGGGTGTATATGTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0114 a0001c0001t0007g0114	1	135	0.0074	33	c.385 others(52): Show c.385-14385_385-14384insTACATATACACCCATCTGGTGTATAC ACACACA	TAFA2	ENSG00000198673.11	transcript	ENST00000416284.8	protein_coding	4/4			chr12	TogoVar
TAFA2_chr12_61703273_62197773	62039144	C C	CAGAATGT others(26): Show CAGAATGTTAGAACGAATACAAGTAATACTTACA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	220	0.0045	33	c.-2+ others(52): Show c.-2+152114_-2+152115insTGTAAGTATTACTTGTATTCGTTCTA ACATTCT	TAFA2	ENSG00000198673.11	transcript	ENST00000416284.8	protein_coding	1/4			chr12	TogoVar
TAFA5_chr22_48484553_48756932	48620896	A A	ACGTATCC others(26): Show ACGTATCCTATTCATCCATCCCCCCACCCACCCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02040.hp2 HG02132.hp2 others(3): Show HG00408.hp2 HG02040.hp2 HG02132.hp2 HG03831.hp2 NA18944.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0107 a0001c0001t0001g0125 a0001c0001t0001g0134 others(3): Show a0001c0001t0001g0107 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0186 a0001c0001t0001g0248 a0001c0001t0002g0131	6	226	0.0265	33	c.113 others(52): Show c.113-25701_113-25700insCGTATCCTATTCATCCATCCCCCCAC CCACCCT	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3			chr22	TogoVar
TALDO1_chr11_742464_770012	763219	G G	GCCCCCGC others(26): Show GCCCCCGCCCTCACCCGCCCCCGCCCTCACCCGC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	399	0.0025	33	c.462 others(46): Show c.462-94_462-93insGCCCCCCGCCCTCACCCGCCCCCGCCCTCACC C	TALDO1	ENSG00000177156.11	transcript	ENST00000319006.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
TALDO1_chr11_742464_770012	763236	C C	CCCCCCGC others(26): Show CCCCCCGCCCTCACCCGCCCCCGCCCTCACCCAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	329	0.0030	33	c.462 others(48): Show c.462-104_462-103insCGCCCTCACCCGCCCCCGCCCTCACCCATC CCC	TALDO1	ENSG00000177156.11	transcript	ENST00000319006.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
TALDO1_chr11_742464_770012	763236	C C	CCCCCGCC others(26): Show CCCCCGCCCTCACCCGCCCCCCGCCCTCACCCAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	329	0.0030	33	c.462 others(46): Show c.462-94_462-93insGCCCCCCGCCCTCACCCATCCCCGCCCTCACC C	TALDO1	ENSG00000177156.11	transcript	ENST00000319006.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
TANC2_chr17_62961235_63432703	63055990	A A	AAATATAT others(26): Show AAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0176 a0001c0002t0001g0176	1	163	0.0061	33	c.68- others(50): Show c.68-17952_68-17951insATATATATATATATATATATATATATAT ATATA	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
TAOK1_chr17_29385363_29556903	29468135	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02148.hp2 HG03654.hp1 HG01109.hp2 HG02148.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0227 a0001c0001t0003g0250 a0001c0001t0006g0288 a0001c0001t0001g0227 a0001c0001t0003g0250 a0001c0001t0006g0288	3	66	0.0455	33	c.204 others(48): Show c.204+936_204+937insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	TAOK1	ENSG00000160551.12	transcript	ENST00000261716.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
TAOK3_chr12_118144801_118377907	118182623	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	200	0.0050	33	c.133 others(52): Show c.1330-1017_1330-1016insATATATATATATATATATATATATAT ATATATA	TAOK3	ENSG00000135090.14	transcript	ENST00000392533.8	protein_coding	14/20			chr12	TogoVar
TAPBPL_chr12_6447042_6467316	6465990	A A	ATGTCCAC others(26): Show ATGTCCACCACCTGAGGAGGGCACAGAAACAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	458	0.0022	33	c.38 others(44): Show c.3841_*3842insTGTCCACCACCTGAGGAGGGCACAGAAACAAAG	TAPBPL	ENSG00000139192.12	transcript	ENST00000266556.8	protein_coding		3675		chr12	TogoVar
TAS2R1_chr5_9622347_9635351	9633285	G G	GTATATAT others(26): Show GTATATATTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 NA18952.hp1 NA18953.hp1 others(3): Show HG01934.hp2 NA18952.hp1 NA18953.hp1 NA18969.hp1 NA19058.hp1 NA19058.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0006 a0002c0002t0003 a0002c0002t0006	a0002c0002t0003g0000 a0002c0002t0006g0000 a0002c0002t0003g0000 a0002c0002t0006g0000	6	315	0.0190	33	c.-32 others(44): Show c.-3254_-3253insTATATATATATATATATATATATATAATATATA	TAS2R1	ENSG00000169777.7	transcript	ENST00000382492.4	protein_coding		2935		chr5	TogoVar
TAS2R1_chr5_9622347_9635351	9633285	G G	GTATATAT others(26): Show GTATATATTATATATATATATATATTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	310	0.0032	33	c.-32 others(44): Show c.-3254_-3253insTATATATAAATATATATATATATATAATATATA	TAS2R1	ENSG00000169777.7	transcript	ENST00000382492.4	protein_coding		2935		chr5	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0005 a0001c0001t0007g0005	1	153	0.0065	33	c.-20 others(44): Show c.-2089_-2088insACATATATATATATATATATATATTTTTTTTTT	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0005 a0001c0001t0007g0005	1	153	0.0065	33	c.-20 others(44): Show c.-2089_-2088insACATATATATATATATATATATATATTTTTTTT	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	153	0.0065	33	c.-20 others(44): Show c.-2089_-2088insACATATATATATATATATATATATATATTTTTT	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG02735.hp2 NA18961.hp1 others(1): Show HG00280.hp1 HG02735.hp2 NA18961.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0001 a0001c0001t0001g0018	4	156	0.0256	33	c.-20 others(44): Show c.-2089_-2088insACATATATATATATATATATATATATATATTTT	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	153	0.0065	33	c.-20 others(44): Show c.-2089_-2088insATACATATATATATATATATATATATATATTTT	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	AAATATAT others(26): Show AAATATATATATATATATATATATATATATATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA18997.hp1 NA18978.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0005 a0001c0001t0007g0086 a0001c0001t0007g0005 a0001c0001t0007g0086	2	154	0.0130	33	c.-20 others(44): Show c.-2089_-2088insACATATATATATATATATATATATATATATATT	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	AAATATAT others(26): Show AAATATATATATATATATATATATATATATGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	153	0.0065	33	c.-20 others(44): Show c.-2089_-2088insATACATATATATATATATATATATATATATATT	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01258.hp1 HG01358.hp1 others(20): Show HG01099.hp1 HG01258.hp1 HG01358.hp1 HG01496.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02040.hp2 HG02071.hp1 HG02129.hp2 HG02148.hp1 HG02165.hp1 HG02293.hp2 NA18946.hp2 NA18948.hp1 NA18956.hp1 NA18969.hp1 NA18973.hp2 NA18977.hp2 NA18994.hp2 NA19065.hp1 NA19075.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0047 a0001c0001t0001 a0001c0001t0007 a0001c0001t0047	a0001c0001t0001g0001 a0001c0001t0001g0049 a0001c0001t0001g0071 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0049 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0007g0005 a0001c0001t0047g0077	23	175	0.1314	33	c.-20 others(44): Show c.-2089_-2088insACATATATATATATATATATATATATATATATA	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TAT_chr16_71560660_71582092	71579085	A A	AAAATATA others(26): Show AAAATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0040 a0001c0001t0028g0040	1	359	0.0028	33	c.-20 others(44): Show c.-2090_-2089insCATATATATATATATATATATATATATATATTT	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1994		chr16	TogoVar
TBATA_chr10_70766238_70790377	70767473	T T	TAGTCCCA others(26): Show TAGTCCCAGCTACTGAGGAGGCTGAGGTGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	33	c.39 others(44): Show c.3902_*3903insTCTCCCACCTCAGCCTCCTCAGTAGCTGGGACT	TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding		3764		chr10	TogoVar
TBC1D14_chr4_6904826_7038114	6933263	C C	CCCTCCCC others(26): Show CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0300 a0001c0003t0003g0300	1	299	0.0033	33	c.722 others(50): Show c.722+9153_722+9154insCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTC	TBC1D14	ENSG00000132405.19	transcript	ENST00000409757.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D19_chr4_26579084_26761223	26656987	T T	TCTCCTTC others(26): Show TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG01168.hp1 others(4): Show HG00323.hp2 HG00639.hp1 HG01168.hp1 HG02735.hp1 NA18971.hp1 NA18971.hp2 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0010 a0001c0002t0002 a0001c0002t0010	a0001c0002t0002g0213 a0001c0002t0002g0282 a0001c0002t0002g0286 others(4): Show a0001c0002t0002g0213 a0001c0002t0002g0282 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0291 a0001c0002t0010g0266	7	14	0.5000	33	c.481 others(50): Show c.481-2608_481-2607insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCT	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D19_chr4_26579084_26761223	26656987	T T	TCTTCTTC others(26): Show TCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03041.hp1 HG03225.hp2 HG02976.hp1 HG03041.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194	3	10	0.3000	33	c.481 others(50): Show c.481-2605_481-2604insTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCT	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D19_chr4_26579084_26761223	26656987	T T	TCTTCTTC others(26): Show TCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19083.hp1 NA19064.hp1 NA19083.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0004c0009t0001 a0001c0001t0001 a0004c0009t0001	a0001c0001t0001g0052 a0004c0009t0001g0108 a0001c0001t0001g0052 a0004c0009t0001g0108	2	9	0.2222	33	c.481 others(50): Show c.481-2605_481-2604insTCTTCTTCTCCTTCTCCTTCTCCTTCTC CTTCT	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D19_chr4_26579084_26761223	26656987	T T	TCTTCTTC others(26): Show TCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp2 HG02622.hp1 others(5): Show HG02486.hp2 HG02615.hp2 HG02622.hp1 HG03041.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0010 a0001c0001 a0001c0006 a0001c0010	a0001c0001t0001 a0001c0006t0001 a0001c0006t0005 others(1): Show a0001c0001t0001 a0001c0006t0001 a0001c0006t0005 a0001c0010t0001	a0001c0001t0001g0149 a0001c0001t0001g0172 a0001c0001t0001g0185 others(5): Show a0001c0001t0001g0149 a0001c0001t0001g0172 a0001c0001t0001g0185 a0001c0006t0001g0211 a0001c0006t0005g0147 a0001c0006t0005g0207 a0001c0006t0005g0210 a0001c0010t0001g0034	8	15	0.5333	33	c.481 others(50): Show c.481-2605_481-2604insTCTTCTTCTTCTTCTCCTTCTCCTTCTC CTTCT	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D19_chr4_26579084_26761223	26656987	T T	TCTTCTTC others(26): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA21309.hp2 HG02630.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0173 a0001c0001t0003g0197 a0001c0001t0001g0173 a0001c0001t0003g0197	2	9	0.2222	33	c.481 others(50): Show c.481-2605_481-2604insTCTTCTTCTTCTTCTTCTTCTCCTTCTC CTTCT	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D19_chr4_26579084_26761223	26656987	T T	TCTTCTTC others(26): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	8	0.1250	33	c.481 others(50): Show c.481-2605_481-2604insTCTTCTTCTTCTTCTTCTTCTTCTTCTC CTTCT	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D22A_chr22_46757650_47180693	46963303	A A	ACGCAGTG others(26): Show ACGCAGTGCTCATCACACTGCCTGCCCTGGGTCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp2 HG01433.hp2 others(20): Show HG00741.hp1 HG01243.hp2 HG01433.hp2 HG02109.hp2 HG02145.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03486.hp2 NA18522.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0022 a0001c0002t0001 a0001c0004t0020 a0002c0003t0003 a0002c0003t0008	a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0104 others(20): Show a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0040 a0001c0001t0002g0097 a0001c0001t0004g0022 a0001c0001t0004g0053 a0001c0001t0004g0067 a0001c0001t0004g0070 a0001c0001t0005g0112 a0001c0001t0006g0082 a0001c0001t0008g0043 a0001c0001t0009g0013 a0001c0001t0014g0006 a0001c0001t0022g0017 a0001c0002t0001g0001 a0001c0004t0020g0033 a0002c0003t0003g0028 a0002c0003t0008g0034	23	78	0.2949	33	c.101 others(54): Show c.1016-10945_1016-10913dupTCATCACACTGCCTGCCCTGGGTC CCGCAGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47128106	C C	CCTCCTCC others(26): Show CCTCCTCCGCCCCACCCACCACCCCTCCGCCCCA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	112	0.0089	33	c.142 others(54): Show c.1425+16504_1425+16505insTCCTCCGCCCCACCCACCACCCCT CCGCCCCAC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D2B_chr15_77989985_78082711	78040855	G G	GAAGGAAG others(26): Show GAAGGAAGAAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	47	0.0213	33	c.683 others(50): Show c.683+4044_683+4045insTCTTTCTTTCTTTCTTTCTTTCTTTTCT TCCTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D32_chr6_121074494_121339480	121192051	T T	TCTTTATA others(26): Show TCTTTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02071.hp1 NA18960.hp1 others(1): Show HG01993.hp1 HG02071.hp1 NA18960.hp1 NA19000.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0011 a0003c0004t0003 a0003c0004t0011	a0003c0004t0003g0025 a0003c0004t0003g0038 a0003c0004t0011g0010 others(1): Show a0003c0004t0003g0025 a0003c0004t0003g0038 a0003c0004t0011g0010 a0003c0004t0011g0016	4	150	0.0267	33	c.257 others(54): Show c.2570+13023_2570+13024insTATATATATATATATATATATATA TATATAAAG	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	22/31			chr6	TogoVar
TBC1D5_chr3_17152168_17747631	17186710	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0162 a0001c0001t0011g0162	1	16	0.0625	33	c.181 others(52): Show c.1819-1535_1819-1503dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	19/22			chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17256386	A A	ATATATAT others(26): Show ATATATATATAATATATATATAAACTCATTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp2 HG01891.hp1 others(19): Show HG00280.hp1 HG01109.hp2 HG01891.hp1 HG01934.hp2 HG02145.hp2 HG02280.hp2 HG02523.hp1 HG02647.hp2 HG02717.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03195.hp1 HG03225.hp2 HG03540.hp2 HG04184.hp2 NA18957.hp1 NA18975.hp2 NA19043.hp2 NA20129.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0145 a0001c0001t0002g0010 a0001c0001t0003g0017 a0001c0001t0005g0003 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0007g0142 a0001c0001t0007g0143 a0001c0001t0007g0144 a0001c0001t0008g0090 a0003c0005t0001g0011	22	159	0.1384	33	c.133 others(52): Show c.1331+2087_1331+2119dupACACAATGAGTTTATATATATATTAT ATATATA	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	16/22			chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17746264	C C	CACGTTCT others(26): Show CACGTTCTTACTCCCCAAGAGACAATCTGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	160	0.0063	33	c.-39 others(44): Show c.-3917_-3885dupTCCCTCAGATTGTCTCTTGGGGAGTAAGAACGT	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding		3634		chr3	TogoVar
TBC1D7_chr6_13299951_13333537	13310637	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01346.hp2 NA19089.hp1 HG01243.hp2 HG01346.hp2 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0001c0001t0009 a0002c0004t0006 a0001c0001t0003 a0001c0001t0009 a0002c0004t0006	a0001c0001t0003g0110 a0001c0001t0009g0056 a0002c0004t0006g0118 a0001c0001t0003g0110 a0001c0001t0009g0056 a0002c0004t0006g0118	3	201	0.0149	33	c.520 others(50): Show c.520-2893_520-2892insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	TBC1D7	ENSG00000145979.18	transcript	ENST00000379300.8	protein_coding	5/7			chr6	TogoVar

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