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
TAS2R4_chr7_141771674_141786691	141778044	T T	TGGGGGGG others(10): Show TGGGGGGGGGGGGGGGGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0000 a0001c0001t0019g0000	1	444	0.0023	17	c.-44 others(26): Show c.-442_-441insGGGGGGGGGGGGGGGGG	TAS2R4	ENSG00000127364.4	transcript	ENST00000247881.4	protein_coding	1/1	441	INFO_REALIGN_3_PRIME	chr7	TogoVar
TASP1_chr20_13384394_13643932	13433841	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	203	0.0049	17	c.109 others(36): Show c.1096+1186_1096+1202dupTTTTTTTTTTTTTTTTT	TASP1	ENSG00000089123.16	transcript	ENST00000337743.9	protein_coding	12/13			chr20	TogoVar
TATDN2_chr3_10243459_10286218	10257841	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp2 HG02647.hp1 others(1): Show HG02258.hp1 HG02486.hp2 HG02647.hp1 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007	a0002c0002t0003g0250 a0002c0002t0003g0269 a0002c0002t0006g0306 others(1): Show a0002c0002t0003g0250 a0002c0002t0003g0269 a0002c0002t0006g0306 a0002c0002t0007g0299	4	145	0.0276	17	c.415 others(34): Show c.415-2277_415-2261dupTTTTTTTTTTTTTTTTT	TATDN2	ENSG00000157014.11	transcript	ENST00000448281.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
TATDN3_chr1_212786894_212821830	212792632	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0235 a0001c0002t0003g0235	1	174	0.0057	17	c.66+ others(30): Show c.66+650_66+666dupAAAAAAAAAAAAAAAAA	TATDN3	ENSG00000203705.11	transcript	ENST00000366974.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 NA19076.hp1 HG03942.hp2 NA19076.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0008 a0002c0002 a0003c0008	a0002c0002t0011 a0003c0008t0003 a0002c0002t0011 a0003c0008t0003	a0002c0002t0011g0014 a0003c0008t0003g0109 a0002c0002t0011g0014 a0003c0008t0003g0109	2	154	0.0130	17	c.-20 others(28): Show c.-2089_-2088insATATTTTTTTTTTTTTT	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TBC1D16_chr17_79927343_80040872	80025561	G G	GCCTGCCT others(10): Show GCCTGCCTGCTGGGAGCA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0083 a0001c0001t0004g0083	1	331	0.0030	17	c.-63 others(36): Show c.-63+10233_-63+10234insTGCTCCCAGCAGGCAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding	1/11			chr17	TogoVar
TBC1D16_chr17_79927343_80040872	80025565	G G	GCCTGCTG others(10): Show GCCTGCTGGGAGCACCCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG00642.hp2 others(33): Show HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01255.hp1 HG02056.hp1 HG02155.hp1 HG02165.hp1 HG02280.hp1 HG02523.hp1 HG02523.hp2 HG02683.hp2 HG02698.hp1 HG02809.hp2 HG03490.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG04115.hp2 NA18942.hp2 NA18971.hp2 NA18974.hp2 NA18984.hp1 NA18989.hp1 NA19005.hp1 NA19043.hp2 NA19055.hp2 NA19066.hp1 NA19074.hp1	a0001 a0005 a0010 others(1): Show a0001 a0005 a0010 a0016	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0005c0017 a0010c0030 a0016c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0002t0010 a0001c0002t0082 a0001c0002t0085 a0001c0003t0001 a0001c0003t0003 a0001c0003t0014 a0001c0003t0027 a0001c0003t0033 a0001c0003t0044 a0001c0004t0001 a0001c0004t0004 a0001c0004t0007 a0001c0004t0058 a0005c0017t0006 a0010c0030t0070 a0016c0024t0001	a0001c0001t0001g0048 a0001c0001t0001g0144 a0001c0001t0001g0149 others(33): Show a0001c0001t0001g0048 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0272 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0002g0247 a0001c0001t0002g0270 a0001c0001t0003g0006 a0001c0001t0003g0060 a0001c0001t0005g0260 a0001c0001t0005g0266 a0001c0001t0007g0262 a0001c0001t0012g0012 a0001c0001t0012g0246 a0001c0001t0015g0225 a0001c0001t0016g0254 a0001c0001t0021g0257 a0001c0001t0022g0148 a0001c0001t0023g0251 a0001c0002t0010g0269 a0001c0002t0082g0074 a0001c0002t0085g0303 a0001c0003t0001g0248 a0001c0003t0003g0249 a0001c0003t0014g0263 a0001c0003t0027g0243 a0001c0003t0033g0231 a0001c0003t0044g0255 a0001c0004t0001g0271 a0001c0004t0004g0258 a0001c0004t0007g0259 a0001c0004t0058g0226 a0005c0017t0006g0140 a0010c0030t0070g0261 a0016c0024t0001g0227	36	327	0.1101	17	c.-63 others(36): Show c.-63+10229_-63+10230insGGGGTGCTCCCAGCAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding	1/11			chr17	TogoVar
TBC1D16_chr17_79927343_80040872	80025589	G G	GGGAGCAG others(10): Show GGGAGCAGCCGCCTGCTA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03831.hp2 HG04199.hp1 HG02083.hp1 HG03831.hp2 HG04199.hp1	a0001 a0007 a0001 a0007	a0001c0003 a0001c0004 a0007c0016 a0001c0003 a0001c0004 a0007c0016	a0001c0003t0014 a0001c0004t0059 a0007c0016t0056 a0001c0003t0014 a0001c0004t0059 a0007c0016t0056	a0001c0003t0014g0032 a0001c0004t0059g0156 a0007c0016t0056g0155 a0001c0003t0014g0032 a0001c0004t0059g0156 a0007c0016t0056g0155	3	251	0.0120	17	c.-63 others(36): Show c.-63+10205_-63+10206insTAGCAGGCGGCTGCTCC	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding	1/11			chr17	TogoVar
TBC1D17_chr19_49872702_49893750	49880650	T T	TCCCACAC others(10): Show TCCCACACCAGGCCTGCC	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0147 a0001c0003t0001g0147	1	418	0.0024	17	c.319 others(32): Show c.319+251_319+267dupCACACCAGGCCTGCCCC	TBC1D17	ENSG00000104946.14	transcript	ENST00000221543.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
TBC1D1_chr4_37886084_38144173	37891066	T T	TCCTCCTC others(10): Show TCCTCCTCCTCCTCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0042 a0004c0003t0042	a0004c0003t0042g0079 a0004c0003t0042g0079	1	90	0.0111	17	c.-37 others(26): Show c.-376_-375insCCTCCTCCTCCTCCTCC	TBC1D1	ENSG00000065882.18	transcript	ENST00000698857.1	protein_coding		17		chr4	TogoVar
TBC1D20_chr20_430480_467533	466018	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0157 a0001c0001t0007g0157	1	330	0.0030	17	c.-36 others(28): Show c.-3614_-3613insTTTTTTTTTTTTTTTTT	TBC1D20	ENSG00000125875.15	transcript	ENST00000354200.5	protein_coding		3486		chr20	TogoVar
TBC1D22A_chr22_46757650_47180693	46941418	A A	AATATATA others(10): Show AATATATATACACAGAAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	50	0.0200	17	c.101 others(38): Show c.1015+29235_1015+29236insTATACACAGAATATATA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46941418	A A	AATATATA others(10): Show AATATATATACACGGAAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	50	0.0200	17	c.101 others(38): Show c.1015+29235_1015+29236insTATACACGGAATATATA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D24_chr16_2470127_2510730	2504414	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0160 a0001c0002t0026g0160	1	214	0.0047	17	c.34 others(28): Show c.3462_*3478dupTTTTTTTTTTTTTTTTT	TBC1D24	ENSG00000162065.14	transcript	ENST00000646147.1	protein_coding	8/8	3479	INFO_REALIGN_3_PRIME	chr16	TogoVar
TBC1D26_chr17_15727283_15749782	15747754	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	422	0.0024	17	c.31 others(28): Show c.3162_*3163insAAAAAAAAAAAAAAAAA	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2973		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	203	0.0049	17	c.31 others(28): Show c.3182_*3183insAAAAAAAAAAAAAATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 NA18988.hp1 HG01261.hp2 NA18988.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	2	204	0.0098	17	c.31 others(28): Show c.3182_*3183insAAAAAAAAAAAATATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG03516.hp1 NA18974.hp2 others(1): Show HG02080.hp1 HG03516.hp1 NA18974.hp2 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0008	4	206	0.0194	17	c.31 others(28): Show c.3182_*3183insAAAAAAAAAATATATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 NA18979.hp1 HG03688.hp2 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0002 a0002c0002t0002g0004	2	204	0.0098	17	c.31 others(28): Show c.3182_*3183insAAAAAAAATATATATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D2B_chr15_77989985_78082711	77992778	A A	ACCCCCCC others(10): Show ACCCCCCCAATCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0152 a0001c0001t0006g0152	1	96	0.0104	17	c.53 others(28): Show c.5381_*5382insGCGGGGGATTGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2206		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992824	T T	TCCCCCAC others(10): Show TCCCCCACTCCCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0168 a0001c0001t0010g0168	1	243	0.0041	17	c.53 others(28): Show c.5335_*5336insGAGTGGGGGAGTGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2160		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992835	T T	TCCCCCCC others(10): Show TCCCCCCCACTCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0260 a0002c0003t0009g0260	1	212	0.0047	17	c.53 others(28): Show c.5324_*5325insGGGGGGGAGTGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2149		chr15	TogoVar
TBC1D2_chr9_98194011_98260649	98232342	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(38): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00642.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01891.hp1 HG01891.hp2 HG02129.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03704.hp1 NA18522.hp1 NA18906.hp1 NA18951.hp2 NA18960.hp2 NA18962.hp2 NA18982.hp1 NA19068.hp1 NA19076.hp1 NA19076.hp2 NA19081.hp2 NA19084.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0003c0012	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0003c0004t0001 a0003c0004t0003 a0003c0012t0001	a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0064 others(35): Show a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0107 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0002t0001g0058 a0001c0002t0002g0026 a0003c0004t0001g0011 a0003c0004t0001g0024 a0003c0004t0001g0060 a0003c0004t0001g0101 a0003c0004t0001g0272 a0003c0004t0001g0273 a0003c0004t0001g0275 a0003c0004t0001g0276 a0003c0004t0001g0283 a0003c0004t0001g0284 a0003c0004t0001g0285 a0003c0004t0001g0287 a0003c0004t0001g0288 a0003c0004t0001g0289 a0003c0004t0001g0292 a0003c0004t0001g0293 a0003c0004t0001g0294 a0003c0004t0001g0295 a0003c0004t0001g0297 a0003c0004t0001g0298 a0003c0004t0001g0299 a0003c0004t0001g0302 a0003c0004t0001g0303 a0003c0004t0001g0304 a0003c0004t0003g0049 a0003c0012t0001g0271 a0003c0012t0001g0277 a0003c0012t0001g0279	41	239	0.1715	17	c.781 others(34): Show c.781+1073_781+1074insAAAAAAAAAAAAAAAAA	TBC1D2	ENSG00000095383.20	transcript	ENST00000465784.7	protein_coding	4/12			chr9	TogoVar
TBC1D31_chr8_123067707_123157153	123127261	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0069 a0001c0009t0001g0069	1	85	0.0118	17	c.188 others(34): Show c.1884+584_1884+600dupTTTTTTTTTTTTTTTTT	TBC1D31	ENSG00000156787.17	transcript	ENST00000287380.6	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
TBC1D32_chr6_121074494_121339480	121308686	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0216 a0001c0003t0008g0216	1	50	0.0200	17	c.565 others(32): Show c.565-602_565-586dupAAAAAAAAAAAAAAAAA	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	4/31			chr6	TogoVar
TBC1D3I_chr17_36248639_36269570	36255005	G G	GGCCGGGG others(10): Show GGCCGGGGTCCCGCCTGT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0005 a0005c0006t0005	a0005c0006t0005g0101 a0005c0006t0005g0101	1	168	0.0060	17	c.108 others(34): Show c.1081+479_1081+480insACAGGCGGGACCCCGGC	TBC1D3I	ENSG00000274933.6	transcript	ENST00000621034.2	protein_coding	13/13			chr17	TogoVar
TBC1D5_chr3_17152168_17747631	17186710	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG04228.hp2 HG03942.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0161 a0001c0001t0003g0158 a0001c0001t0002g0161 a0001c0001t0003g0158	2	17	0.1176	17	c.181 others(36): Show c.1819-1519_1819-1503dupTTTTTTTTTTTTTTTTT	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	19/22			chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17337123	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18522.hp2 HG03209.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0101 a0001c0001t0001g0102	2	21	0.0952	17	c.996 others(36): Show c.996-29006_996-28990dupAAAAAAAAAAAAAAAAA	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	13/22			chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17591233	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02165.hp1 HG01168.hp2 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0081 a0001c0001t0005g0079 a0001c0001t0002g0081 a0001c0001t0005g0079	2	48	0.0417	17	c.-36 others(36): Show c.-36+32599_-36+32615dupTTTTTTTTTTTTTTTTT	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	2/22			chr3	TogoVar
TBC1D8_chr2_101002228_101156382	101054672	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA18965.hp1 NA18970.hp2 others(3): Show HG01975.hp1 NA18965.hp1 NA18970.hp2 NA19003.hp2 NA19082.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0137 others(3): Show a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0006g0148	6	214	0.0280	17	c.403 others(32): Show c.403-353_403-337dupAAAAAAAAAAAAAAAAA	TBC1D8	ENSG00000204634.13	transcript	ENST00000409318.2	protein_coding	3/19			chr2	TogoVar
TBC1D8_chr2_101002228_101156382	101095249	T T	TTATTATT others(10): Show TTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0001 a0011c0017t0001	a0011c0017t0001g0087 a0011c0017t0001g0087	1	138	0.0072	17	c.128 others(34): Show c.128-4886_128-4885insTAATAATAATAATAATA	TBC1D8	ENSG00000204634.13	transcript	ENST00000409318.2	protein_coding	1/19			chr2	TogoVar
TBCD_chr17_82747065_82950914	82751103	T T	TCCCCCGT others(10): Show TCCCCCGTCCCCCCCGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG02698.hp1 HG00741.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0010 a0001c0001t0002 a0001c0002t0010	a0001c0001t0002g0024 a0001c0002t0010g0099 a0001c0001t0002g0024 a0001c0002t0010g0099	2	124	0.0161	17	c.-10 others(28): Show c.-1091_-1090insCCCCCGTCCCCCCCGTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding		961		chr17	TogoVar
TBCD_chr17_82747065_82950914	82751576	G G	GCCCCGCC others(10): Show GCCCCGCCCCCGCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 NA20129.hp1 HG01884.hp1 NA20129.hp1	a0002 a0005 a0002 a0005	a0002c0007 a0005c0013 a0002c0007 a0005c0013	a0002c0007t0011 a0005c0013t0011 a0002c0007t0011 a0005c0013t0011	a0002c0007t0011g0236 a0005c0013t0011g0238 a0002c0007t0011g0236 a0005c0013t0011g0238	2	186	0.0108	17	c.-61 others(26): Show c.-618_-617insCCCCGCCCCCGCCCCGC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding		488		chr17	TogoVar
TBCD_chr17_82747065_82950914	82758384	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG00735.hp1 others(13): Show HG00423.hp1 HG00621.hp2 HG00735.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01516.hp2 HG02165.hp1 HG04115.hp2 NA18963.hp1 NA18964.hp2 NA19004.hp2 NA19010.hp2 NA19083.hp2 NA20129.hp2 NA20752.hp1	a0001 a0004 a0016 a0001 a0004 a0016	a0001c0001 a0001c0002 a0001c0031 others(2): Show a0001c0001 a0001c0002 a0001c0031 a0004c0005 a0016c0024	a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 others(7): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 a0001c0001t0025 a0001c0002t0002 a0001c0031t0002 a0004c0005t0001 a0004c0005t0004 a0004c0005t0031 a0016c0024t0004	a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0006g0021 others(13): Show a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0006g0021 a0001c0001t0016g0101 a0001c0001t0025g0020 a0001c0002t0002g0019 a0001c0031t0002g0075 a0004c0005t0001g0102 a0004c0005t0001g0108 a0004c0005t0001g0118 a0004c0005t0001g0120 a0004c0005t0001g0121 a0004c0005t0001g0122 a0004c0005t0004g0125 a0004c0005t0031g0119 a0016c0024t0004g0127	16	115	0.1391	17	c.235 others(34): Show c.235+2172_235+2188dupAAAAAAAAAAAAAAAAA	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	2/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82776602	G G	GTCGTGTT others(10): Show GTCGTGTTCTGCTGTGTT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0179 a0003c0004t0004g0179	1	316	0.0032	17	c.638 others(34): Show c.638+4099_638+4115dupTGTTCTGCTGTGTTTCG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	6/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82844236	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02071.hp1 HG01346.hp1 HG02071.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0004c0005t0001 a0001c0001t0002 a0004c0005t0001	a0001c0001t0002g0095 a0004c0005t0001g0029 a0001c0001t0002g0095 a0004c0005t0001g0029	2	310	0.0065	17	c.131 others(38): Show c.1319-25988_1319-25987insGTGTGTGTGTGTGTGTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38			chr17	TogoVar
TBCD_chr17_82747065_82950914	82935836	T T	TGGGACCC others(10): Show TGGGACCCCCCCCATCGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0224 a0002c0003t0003g0224	1	316	0.0032	17	c.319 others(36): Show c.3192-1432_3192-1416dupGACCCCCCCCATCGGGG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	34/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCE_chr1_235362427_235457443	235400408	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG01070.hp1 others(20): Show HG00621.hp2 HG00642.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01261.hp1 HG01346.hp2 HG01981.hp2 HG02027.hp2 HG02055.hp1 HG02135.hp2 HG02257.hp2 HG02738.hp2 HG02897.hp2 HG03098.hp2 HG03579.hp2 HG03669.hp1 HG04199.hp1 NA18949.hp2 NA18994.hp1 NA19005.hp1 NA19012.hp1 NA19066.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0032 a0005c0008t0001	a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0061 others(20): Show a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0125 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0267 a0001c0001t0003g0030 a0001c0001t0003g0107 a0001c0001t0003g0116 a0001c0001t0003g0143 a0001c0001t0003g0150 a0001c0001t0003g0191 a0001c0001t0006g0073 a0001c0001t0012g0014 a0001c0001t0012g0141 a0001c0001t0032g0064 a0005c0008t0001g0242	23	97	0.2371	17	c.101 others(34): Show c.101-1085_101-1084insTTTTTTTTTTTTTTTTT	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412142	T T	TCCCCTCC others(10): Show TCCCCTCCCCTCCCCCCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0156 a0001c0001t0004g0156	1	235	0.0043	17	c.186 others(34): Show c.186-2291_186-2290insCCCCTCCCCTCCCCCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16			chr1	TogoVar
TBCE_chr1_235362427_235457443	235412224	T T	TCCCCCTC others(10): Show TCCCCCTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	262	0.0038	17	c.186 others(34): Show c.186-2198_186-2197insCCCCTCCCCCCTCCCCT	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBKBP1_chr17_47689161_47717052	47700289	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01433.hp1 HG02056.hp2 others(14): Show HG00642.hp2 HG01433.hp1 HG02056.hp2 HG02071.hp1 HG02523.hp1 HG03710.hp2 NA18943.hp1 NA18978.hp2 NA18986.hp1 NA18987.hp1 NA18995.hp2 NA19067.hp1 NA19080.hp2 NA19084.hp1 NA19090.hp1 NA19091.hp1 NA20905.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005 a0002c0011 a0002c0023 a0010c0013	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0002c0005t0001 a0002c0011t0001 a0002c0023t0001 a0010c0013t0001	a0001c0001t0001g0012 a0001c0001t0001g0081 a0001c0001t0001g0082 others(12): Show a0001c0001t0001g0012 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0002t0001g0128 a0001c0003t0001g0166 a0001c0003t0001g0176 a0002c0005t0001g0145 a0002c0011t0001g0126 a0002c0023t0001g0012 a0010c0013t0001g0158	17	113	0.1504	17	c.872 others(32): Show c.872+603_872+619dupTTTTTTTTTTTTTTTTT	TBKBP1	ENSG00000198933.11	transcript	ENST00000578982.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBL1XR1_chr3_177014344_177202482	177017422	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01516.hp2 HG01517.hp2 others(1): Show HG01168.hp2 HG01516.hp2 HG01517.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0125 a0001c0001t0001g0276 a0001c0001t0009g0126 others(1): Show a0001c0001t0001g0125 a0001c0001t0001g0276 a0001c0001t0009g0126 a0001c0001t0009g0127	4	85	0.0471	17	c.80 others(28): Show c.8075_*8076insAAAAAAAAAAAAAAAAA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding		1921		chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177069783	A A	AAAGGAAG others(10): Show AAAGGAAGGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01891.hp2 HG02896.hp1 others(2): Show HG01123.hp1 HG01891.hp2 HG02896.hp1 HG02897.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0025 a0001c0001t0002 a0001c0001t0005 a0001c0001t0025	a0001c0001t0002g0209 a0001c0001t0005g0150 a0001c0001t0005g0151 others(2): Show a0001c0001t0002g0209 a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0005g0153 a0001c0001t0025g0169	5	246	0.0203	17	c.-45 others(34): Show c.-45-4762_-45-4761insCCTTCCTTTCCTTCCTT	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	2/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177069784	A A	AAGGAAAG others(10): Show AAGGAAAGGAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0217 a0001c0001t0008g0217	1	275	0.0036	17	c.-45 others(34): Show c.-45-4763_-45-4762insCCTTTCCTTCCTTTCCT	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	2/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177069784	A A	AAGGAAGG others(10): Show AAGGAAGGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0165 a0001c0001t0056g0165	1	275	0.0036	17	c.-45 others(34): Show c.-45-4763_-45-4762insCCCTTCCTTCCCTTCCT	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	2/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177069793	A A	AAAGGAAA others(10): Show AAAGGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	94	0.0106	17	c.-45 others(34): Show c.-45-4772_-45-4771insCCTTCCTTCCTTTCCTT	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	2/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112107	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19064.hp1 NA20905.hp2 HG03486.hp1 NA19064.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0051 a0001c0001t0001 a0001c0001t0024 a0001c0001t0051	a0001c0001t0001g0207 a0001c0001t0024g0269 a0001c0001t0051g0056 a0001c0001t0001g0207 a0001c0001t0024g0269 a0001c0001t0051g0056	3	163	0.0184	17	c.-12 others(38): Show c.-121-13567_-121-13566insAAAAATATATATATATA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112108	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03239.hp2 HG03453.hp1 others(1): Show HG02922.hp1 HG03239.hp2 HG03453.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0025	a0001c0001t0004g0252 a0001c0001t0006g0167 a0001c0001t0014g0004 others(1): Show a0001c0001t0004g0252 a0001c0001t0006g0167 a0001c0001t0014g0004 a0001c0001t0025g0180	4	274	0.0146	17	c.-12 others(38): Show c.-121-13568_-121-13567insTATATATATATATATAT	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177146589	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00642.hp1 HG02074.hp1 others(6): Show HG00609.hp2 HG00642.hp1 HG02074.hp1 HG02300.hp2 NA18947.hp2 NA18962.hp2 NA18971.hp2 NA19056.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0033 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0033 a0001c0001t0041 a0001c0001t0044 a0001c0001t0046	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0100 others(6): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0100 a0001c0001t0002g0010 a0001c0001t0002g0048 a0001c0001t0033g0027 a0001c0001t0041g0107 a0001c0001t0044g0015 a0001c0001t0046g0111	9	96	0.0938	17	c.-12 others(38): Show c.-121-48065_-121-48049dupTTTTTTTTTTTTTTTTT	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBPL1_chr6_133948224_133995432	133985276	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0070 a0001c0001t0006g0070	1	246	0.0041	17	c.481 others(32): Show c.481+611_481+627dupAAAAAAAAAAAAAAAAA	TBPL1	ENSG00000028839.10	transcript	ENST00000237264.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar

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