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
TBC1D19_chr4_26579084_26761223	26656987	T T	TCTTCTTC others(8): Show TCTTCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0215 a0001c0002t0002g0215	1	8	0.1250	15	c.481 others(32): Show c.481-2605_481-2604insTCTCCTTCTCCTTCT	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(8): Show TCTTCTTCTTCTTCTC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	8	0.1250	15	c.481 others(32): Show c.481-2605_481-2604insTCTTCTTCTCCTTCT	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D1_chr4_37886084_38144173	37891066	T T	TTCCTCCT others(8): Show TTCCTCCTCCTCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00544.hp2 others(66): Show HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp1 HG01928.hp2 HG01952.hp1 HG01993.hp1 HG01993.hp2 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02293.hp2 HG02300.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02723.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03195.hp1 HG03486.hp1 HG03540.hp2 HG03654.hp2 HG03704.hp2 HG04228.hp1 NA18612.hp2 NA18940.hp1 NA18941.hp1 NA18948.hp1 NA18954.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18983.hp1 NA18990.hp1 NA18995.hp2 NA19004.hp1 NA19062.hp2 NA19074.hp1 NA19079.hp1 NA19089.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0016 a0018 a0026 a0028	a0001c0001 a0001c0005 a0001c0007 others(26): Show a0001c0001 a0001c0005 a0001c0007 a0001c0008 a0001c0018 a0001c0019 a0001c0021 a0002c0002 a0002c0004 a0003c0006 a0003c0009 a0003c0020 a0004c0003 a0005c0010 a0006c0015 a0006c0027 a0006c0047 a0007c0014 a0008c0012 a0008c0035 a0009c0046 a0010c0013 a0011c0029 a0011c0033 a0012c0016 a0016c0048 a0018c0057 a0026c0045 a0028c0044	a0001c0001t0009 a0001c0001t0015 a0001c0005t0001 others(44): Show a0001c0001t0009 a0001c0001t0015 a0001c0005t0001 a0001c0005t0003 a0001c0005t0006 a0001c0007t0002 a0001c0007t0005 a0001c0007t0008 a0001c0007t0011 a0001c0008t0001 a0001c0008t0004 a0001c0018t0018 a0001c0019t0003 a0001c0019t0004 a0001c0021t0019 a0002c0002t0002 a0002c0002t0043 a0002c0004t0001 a0002c0004t0004 a0003c0006t0001 a0003c0006t0003 a0003c0006t0004 a0003c0006t0006 a0003c0006t0013 a0003c0009t0012 a0003c0009t0018 a0003c0020t0018 a0004c0003t0001 a0004c0003t0004 a0004c0003t0007 a0005c0010t0002 a0006c0015t0016 a0006c0027t0005 a0006c0047t0003 a0007c0014t0001 a0008c0012t0003 a0008c0012t0012 a0008c0035t0003 a0009c0046t0008 a0010c0013t0011 a0011c0029t0005 a0011c0033t0003 a0012c0016t0005 a0016c0048t0001 a0018c0057t0003 a0026c0045t0002 a0028c0044t0002	a0001c0001t0009g0139 a0001c0001t0009g0248 a0001c0001t0015g0154 others(66): Show a0001c0001t0009g0139 a0001c0001t0009g0248 a0001c0001t0015g0154 a0001c0005t0001g0041 a0001c0005t0001g0044 a0001c0005t0001g0045 a0001c0005t0001g0046 a0001c0005t0003g0097 a0001c0005t0003g0123 a0001c0005t0006g0146 a0001c0007t0002g0112 a0001c0007t0005g0057 a0001c0007t0005g0059 a0001c0007t0005g0107 a0001c0007t0008g0192 a0001c0007t0011g0106 a0001c0008t0001g0147 a0001c0008t0004g0052 a0001c0008t0004g0094 a0001c0008t0004g0096 a0001c0018t0018g0172 a0001c0018t0018g0173 a0001c0019t0003g0128 a0001c0019t0004g0100 a0001c0021t0019g0047 a0001c0021t0019g0196 a0002c0002t0002g0043 a0002c0002t0002g0062 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0228 a0002c0002t0043g0309 a0002c0004t0001g0054 a0002c0004t0004g0145 a0003c0006t0001g0085 a0003c0006t0001g0237 a0003c0006t0003g0084 a0003c0006t0004g0090 a0003c0006t0006g0088 a0003c0006t0013g0274 a0003c0009t0012g0279 a0003c0009t0018g0038 a0003c0020t0018g0068 a0003c0020t0018g0074 a0004c0003t0001g0071 a0004c0003t0001g0236 a0004c0003t0004g0163 a0004c0003t0004g0164 a0004c0003t0007g0281 a0005c0010t0002g0067 a0006c0015t0016g0253 a0006c0027t0005g0110 a0006c0047t0003g0144 a0007c0014t0001g0040 a0008c0012t0003g0069 a0008c0012t0012g0277 a0008c0012t0012g0278 a0008c0012t0012g0280 a0008c0035t0003g0089 a0009c0046t0008g0065 a0010c0013t0011g0108 a0011c0029t0005g0058 a0011c0033t0003g0039 a0012c0016t0005g0188 a0012c0016t0005g0190 a0016c0048t0001g0093 a0018c0057t0003g0073 a0026c0045t0002g0189 a0028c0044t0002g0066	69	158	0.4367	15	c.-37 others(24): Show c.-376_-375insTCCTCCTCCTCCTCC	TBC1D1	ENSG00000065882.18	transcript	ENST00000698857.1	protein_coding		17		chr4	TogoVar
TBC1D1_chr4_37886084_38144173	37891066	T T	TTCTTCCT others(8): Show TTCTTCCTCCTCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0017 a0017	a0017c0054 a0017c0054	a0017c0054t0003 a0017c0054t0003	a0017c0054t0003g0086 a0017c0054t0003g0086	1	90	0.0111	15	c.-37 others(24): Show c.-376_-375insTCTTCCTCCTCCTCC	TBC1D1	ENSG00000065882.18	transcript	ENST00000698857.1	protein_coding		17		chr4	TogoVar
TBC1D20_chr20_430480_467533	466018	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01943.hp1 HG02630.hp1 others(2): Show HG01257.hp1 HG01943.hp1 HG02630.hp1 HG02647.hp2 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0001c0001t0019 a0002c0002t0001 others(1): Show a0001c0001t0014 a0001c0001t0019 a0002c0002t0001 a0002c0002t0003	a0001c0001t0014g0219 a0001c0001t0019g0255 a0002c0002t0001g0036 others(2): Show a0001c0001t0014g0219 a0001c0001t0019g0255 a0002c0002t0001g0036 a0002c0002t0001g0221 a0002c0002t0003g0037	5	334	0.0150	15	c.-36 others(26): Show c.-3614_-3613insTTTTTTTTTTTTTTT	TBC1D20	ENSG00000125875.15	transcript	ENST00000354200.5	protein_coding		3486		chr20	TogoVar
TBC1D21_chr15_73868564_73894214	73888549	T T	TTCCTCCT others(8): Show TTCCTCCTCCTCTTCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	15	c.978 others(28): Show c.978+47_978+48insTTCCTCCTCCTCCTC	TBC1D21	ENSG00000167139.9	transcript	ENST00000300504.7	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
TBC1D22A_chr22_46757650_47180693	46941536	T T	TACGGAAT others(8): Show TACGGAATATATATAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0006 a0001c0001t0014g0006	1	112	0.0089	15	c.101 others(36): Show c.1015+29350_1015+29364dupCGGAATATATATACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22B_chr6_37252772_37337970	37298539	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0047 a0001c0004t0003g0047	1	41	0.0244	15	c.982 others(32): Show c.982+7192_982+7206dupTTTTTTTTTTTTTTT	TBC1D22B	ENSG00000065491.8	transcript	ENST00000373491.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
TBC1D23_chr3_100255992_100330238	100309610	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	152	0.0066	15	c.141 others(32): Show c.1414-788_1414-774dupTTTTTTTTTTTTTTT	TBC1D23	ENSG00000036054.13	transcript	ENST00000394144.9	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
TBC1D26_chr17_15727283_15749782	15731622	A A	AGGCCTGG others(8): Show AGGCCTGGTCAGTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG02080.hp1 HG02723.hp1 others(1): Show HG01943.hp1 HG02080.hp1 HG02723.hp1 NA19057.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0005c0005t0001	a0001c0001t0001g0006 a0002c0002t0001g0088 a0002c0002t0002g0008 others(1): Show a0001c0001t0001g0006 a0002c0002t0001g0088 a0002c0002t0002g0008 a0005c0005t0001g0009	4	460	0.0087	15	c.-90 others(24): Show c.-905_-904insGGCCTGGTCAGTGGG	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		660		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15731640	C C	CCTGGTCA others(8): Show CCTGGTCAGTGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02622.hp1 HG01243.hp1 HG02109.hp1 HG02622.hp1	a0006 a0007 a0006 a0007	a0006c0006 a0007c0007 a0006c0006 a0007c0007	a0006c0006t0001 a0007c0007t0002 a0006c0006t0001 a0007c0007t0002	a0006c0006t0001g0035 a0006c0006t0001g0111 a0007c0007t0002g0018 a0006c0006t0001g0035 a0006c0006t0001g0111 a0007c0007t0002g0018	3	462	0.0065	15	c.-88 others(24): Show c.-887_-886insCTGGTCAGTGGGGGT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		642		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747772	A A	ATATATAT others(8): Show ATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	433	0.0023	15	c.31 others(26): Show c.3180_*3181insTATATATATATATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2991		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	203	0.0049	15	c.31 others(26): Show c.3182_*3183insAAAAAAAAAAAATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(8): Show AAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	203	0.0049	15	c.31 others(26): Show c.3182_*3183insAAAAAAAAAATATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp2 NA18989.hp2 NA18960.hp1 NA18960.hp2 NA18989.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0002 a0002c0002t0002g0008	3	205	0.0146	15	c.31 others(26): Show c.3182_*3183insAAAAAAAATATATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15748642	T T	TTTTTGAG others(8): Show TTTTTGAGACAGAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0001 a0013c0015t0001	a0013c0015t0001g0090 a0013c0015t0001g0090	1	344	0.0029	15	c.40 others(26): Show c.4050_*4051insTTTTGAGACAGAGCC	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		3861		chr17	TogoVar
TBC1D28_chr17_18629247_18649391	18645019	A A	ACCCCCAC others(8): Show ACCCCCACTGACCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	462	0.0022	15	c.-10 others(26): Show c.-1005_-1004insCCTGGTCAGTGGGGG	TBC1D28	ENSG00000189375.12	transcript	ENST00000405044.7	protein_coding		629		chr17	TogoVar
TBC1D2B_chr15_77989985_78082711	77992793	C C	CCCCCACT others(8): Show CCCCCACTCCCCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0159 a0001c0001t0004g0159	1	246	0.0041	15	c.53 others(26): Show c.5366_*5367insTGGGGGGGAGTGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2191		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992851	C C	CCCCCCCC others(8): Show CCCCCCCCACTCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0266 a0002c0003t0001g0266	1	249	0.0040	15	c.53 others(26): Show c.5308_*5309insAGTGGAGTGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2133		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992856	C C	CCACTCCC others(8): Show CCACTCCCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	266	0.0038	15	c.53 others(26): Show c.5303_*5304insAGTGGGGGGGGAGTG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2128		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992861	T T	TCCCCCCC others(8): Show TCCCCCCCCCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0133 a0001c0001t0041g0133	1	259	0.0039	15	c.52 others(26): Show c.5298_*5299insGAGTGGGGGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2123		chr15	TogoVar
TBC1D2_chr9_98194011_98260649	98209756	T T	TTCCTTCC others(8): Show TTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02015.hp1 HG02630.hp1 others(2): Show HG00733.hp1 HG02015.hp1 HG02630.hp1 NA18969.hp1 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0005 a0001c0001 a0002c0003 a0004c0005	a0001c0001t0001 a0002c0003t0001 a0004c0005t0001 a0001c0001t0001 a0002c0003t0001 a0004c0005t0001	a0001c0001t0001g0205 a0002c0003t0001g0221 a0002c0003t0001g0237 others(2): Show a0001c0001t0001g0205 a0002c0003t0001g0221 a0002c0003t0001g0237 a0002c0003t0001g0260 a0004c0005t0001g0266	5	127	0.0394	15	c.167 others(32): Show c.1674-613_1674-612insGGAAGGAAGGAAGGA	TBC1D2	ENSG00000095383.20	transcript	ENST00000465784.7	protein_coding	8/12			chr9	TogoVar
TBC1D2_chr9_98194011_98260649	98232342	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02970.hp1 HG01884.hp2 HG02451.hp1 HG02970.hp1	a0003 a0005 a0003 a0005	a0003c0009 a0005c0015 a0003c0009 a0005c0015	a0003c0009t0001 a0005c0015t0001 a0003c0009t0001 a0005c0015t0001	a0003c0009t0001g0035 a0005c0015t0001g0033 a0005c0015t0001g0034 a0003c0009t0001g0035 a0005c0015t0001g0033 a0005c0015t0001g0034	3	201	0.0149	15	c.781 others(32): Show c.781+1073_781+1074insAAAAAAAAAAAAAAA	TBC1D2	ENSG00000095383.20	transcript	ENST00000465784.7	protein_coding	4/12			chr9	TogoVar
TBC1D30_chr12_64819647_64886033	64840004	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02300.hp1 HG02055.hp1 HG02300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0006 a0001c0001t0003 a0002c0003t0006	a0001c0001t0003g0225 a0002c0003t0006g0176 a0001c0001t0003g0225 a0002c0003t0006g0176	2	50	0.0400	15	c.932 others(32): Show c.932+1163_932+1177dupAAAAAAAAAAAAAAA	TBC1D30	ENSG00000111490.15	transcript	ENST00000539867.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TBC1D32_chr6_121074494_121339480	121192051	T T	TCTTTATA others(8): Show TCTTTATATATATATA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0012 a0003c0004t0003g0012	1	147	0.0068	15	c.257 others(36): Show c.2570+13023_2570+13024insTATATATATATAAAG	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	22/31			chr6	TogoVar
TBC1D32_chr6_121074494_121339480	121213524	T T	TAAAATAA others(8): Show TAAAATAAAATAAATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0212 a0001c0003t0026g0212	1	245	0.0041	15	c.248 others(34): Show c.2482-8362_2482-8361insTATTTATTTTATTTT	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	21/31			chr6	TogoVar
TBC1D32_chr6_121074494_121339480	121213524	T T	TAAAATAA others(8): Show TAAAATAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02273.hp1 HG01192.hp1 HG02273.hp1	a0001 a0008 a0001 a0008	a0001c0003 a0008c0015 a0001c0003 a0008c0015	a0001c0003t0005 a0008c0015t0005 a0001c0003t0005 a0008c0015t0005	a0001c0003t0005g0223 a0008c0015t0005g0217 a0001c0003t0005g0223 a0008c0015t0005g0217	2	246	0.0081	15	c.248 others(34): Show c.2482-8362_2482-8361insTATTTTATTTATTTT	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	21/31			chr6	TogoVar
TBC1D32_chr6_121074494_121339480	121282484	T T	TTTAAGAT others(8): Show TTTAAGATGAAAGTTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00735.hp2 HG01081.hp1 others(43): Show HG00597.hp1 HG00735.hp2 HG01081.hp1 HG01243.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG02148.hp2 HG03130.hp2 HG03195.hp2 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18945.hp1 NA18948.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18971.hp2 NA18977.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp1 NA19000.hp2 NA19002.hp2 NA19009.hp1 NA19011.hp1 NA19056.hp2 NA19060.hp1 NA19067.hp1 NA19077.hp2 NA19083.hp2 NA19085.hp1 NA19086.hp1	a0003 a0007 a0003 a0007	a0003c0004 a0003c0012 a0003c0013 others(1): Show a0003c0004 a0003c0012 a0003c0013 a0007c0008	a0003c0004t0003 a0003c0004t0011 a0003c0004t0028 others(4): Show a0003c0004t0003 a0003c0004t0011 a0003c0004t0028 a0003c0012t0003 a0003c0012t0011 a0003c0013t0003 a0007c0008t0017	a0003c0004t0003g0003 a0003c0004t0003g0004 a0003c0004t0003g0007 others(43): Show a0003c0004t0003g0003 a0003c0004t0003g0004 a0003c0004t0003g0007 a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0012 a0003c0004t0003g0013 a0003c0004t0003g0014 a0003c0004t0003g0015 a0003c0004t0003g0017 a0003c0004t0003g0018 a0003c0004t0003g0019 a0003c0004t0003g0020 a0003c0004t0003g0021 a0003c0004t0003g0022 a0003c0004t0003g0023 a0003c0004t0003g0025 a0003c0004t0003g0026 a0003c0004t0003g0027 a0003c0004t0003g0028 a0003c0004t0003g0029 a0003c0004t0003g0030 a0003c0004t0003g0031 a0003c0004t0003g0032 a0003c0004t0003g0033 a0003c0004t0003g0034 a0003c0004t0003g0036 a0003c0004t0003g0037 a0003c0004t0003g0038 a0003c0004t0003g0039 a0003c0004t0003g0041 a0003c0004t0003g0042 a0003c0004t0003g0043 a0003c0004t0003g0044 a0003c0004t0003g0077 a0003c0004t0011g0010 a0003c0004t0011g0016 a0003c0004t0011g0024 a0003c0004t0011g0035 a0003c0004t0028g0011 a0003c0012t0003g0006 a0003c0012t0011g0005 a0003c0013t0003g0040 a0007c0008t0017g0074 a0007c0008t0017g0075 a0007c0008t0017g0076	46	290	0.1586	15	c.146 others(32): Show c.1466-799_1466-798insGAACTTTCATCTTAA	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	13/31			chr6	TogoVar
TBC1D32_chr6_121074494_121339480	121308686	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02717.hp1 HG01884.hp2 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0214 a0001c0003t0015g0215 a0001c0003t0015g0214 a0001c0003t0015g0215	2	51	0.0392	15	c.565 others(30): Show c.565-600_565-586dupAAAAAAAAAAAAAAA	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	4/31			chr6	TogoVar
TBC1D4_chr13_75278503_75487169	75410935	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0004 a0004	a0004c0044 a0004c0044	a0004c0044t0004 a0004c0044t0004	a0004c0044t0004g0166 a0004c0044t0004g0166	1	8	0.1250	15	c.499 others(34): Show c.499-48343_499-48329dupTTTTTTTTTTTTTTT	TBC1D4	ENSG00000136111.14	transcript	ENST00000377636.8	protein_coding	1/20			chr13	TogoVar
TBC1D5_chr3_17152168_17747631	17591233	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	47	0.0213	15	c.-36 others(34): Show c.-36+32601_-36+32615dupTTTTTTTTTTTTTTT	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	2/22			chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17602561	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	80	0.0125	15	c.-36 others(34): Show c.-36+21273_-36+21287dupAAAAAAAAAAAAAAA	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	2/22			chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17655459	T T	TAATTAAA others(8): Show TAATTAAATTAAATTA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0020 a0001c0001t0017g0020	1	63	0.0159	15	c.-10 others(36): Show c.-100-31561_-100-31547dupTAATTTAATTTAATT	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	1/22			chr3	TogoVar
TBC1D7_chr6_13299951_13333537	13310637	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0125 a0001c0002t0008g0125	1	199	0.0050	15	c.520 others(32): Show c.520-2907_520-2893dupTTTTTTTTTTTTTTT	TBC1D7	ENSG00000145979.18	transcript	ENST00000379300.8	protein_coding	5/7			chr6	TogoVar
TBC1D8_chr2_101002228_101156382	101054672	C C	CTTTTCTT others(8): Show CTTTTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0014 a0014	a0014c0034 a0014c0034	a0014c0034t0001 a0014c0034t0001	a0014c0034t0001g0158 a0014c0034t0001g0158	1	209	0.0048	15	c.403 others(30): Show c.403-337_403-336insAAAAAAAAAAGAAAA	TBC1D8	ENSG00000204634.13	transcript	ENST00000409318.2	protein_coding	3/19			chr2	TogoVar
TBC1D8_chr2_101002228_101156382	101054672	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02040.hp1 HG02132.hp1 others(8): Show HG00544.hp2 HG02040.hp1 HG02132.hp1 HG02132.hp2 HG02273.hp1 HG02965.hp1 NA18952.hp2 NA18953.hp2 NA18960.hp1 NA19060.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0149 others(8): Show a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0292 a0001c0001t0001g0302 a0001c0001t0001g0308 a0002c0002t0002g0287	11	219	0.0502	15	c.403 others(30): Show c.403-351_403-337dupAAAAAAAAAAAAAAA	TBC1D8	ENSG00000204634.13	transcript	ENST00000409318.2	protein_coding	3/19			chr2	TogoVar
TBC1D8_chr2_101002228_101156382	101095249	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19088.hp2 HG02056.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0228 a0001c0001t0001g0064 a0001c0001t0001g0228	2	139	0.0144	15	c.128 others(32): Show c.128-4900_128-4886dupTAATAATAATAATAA	TBC1D8	ENSG00000204634.13	transcript	ENST00000409318.2	protein_coding	1/19			chr2	TogoVar
TBC1D8_chr2_101002228_101156382	101122383	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0271 a0003c0004t0001g0271	1	47	0.0213	15	c.127 others(34): Show c.127+28729_127+28743dupTTTTTTTTTTTTTTT	TBC1D8	ENSG00000204634.13	transcript	ENST00000409318.2	protein_coding	1/19			chr2	TogoVar
TBC1D9B_chr5_179857071_179912897	179881946	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02723.hp2 HG02257.hp1 HG02723.hp2	a0001 a0002 a0001 a0002	a0001c0011 a0002c0006 a0001c0011 a0002c0006	a0001c0011t0001 a0002c0006t0005 a0001c0011t0001 a0002c0006t0005	a0001c0011t0001g0134 a0002c0006t0005g0133 a0001c0011t0001g0134 a0002c0006t0005g0133	2	301	0.0066	15	c.125 others(34): Show c.1255-2172_1255-2158dupAAAAAAAAAAAAAAA	TBC1D9B	ENSG00000197226.13	transcript	ENST00000355235.8	protein_coding	7/20			chr5	TogoVar
TBCB_chr19_36110468_36130941	36126727	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 NA18962.hp2 HG02922.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0059 a0001c0001t0001g0007 a0001c0001t0001g0059	2	132	0.0152	15	c.94 others(24): Show c.945_*946insAAAAAAAAAAAAAAA	TBCB	ENSG00000105254.12	transcript	ENST00000221855.8	protein_coding		787		chr19	TogoVar
TBCD_chr17_82747065_82950914	82751575	C C	CCGCCCCC others(8): Show CCGCCCCCGCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0002 a0001c0037t0002	a0001c0037t0002g0070 a0001c0037t0002g0070	1	315	0.0032	15	c.-61 others(24): Show c.-619_-618insCGCCCCCGCCCCCCG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding		489		chr17	TogoVar
TBCD_chr17_82747065_82950914	82758384	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01884.hp2 HG02071.hp1 others(10): Show HG00673.hp1 HG01884.hp2 HG02071.hp1 HG02135.hp2 HG02155.hp1 HG02647.hp1 HG03209.hp1 NA18747.hp1 NA18954.hp1 NA19004.hp1 NA19005.hp1 NA19054.hp2 NA19070.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0001c0002 a0001c0009 others(5): Show a0001c0001 a0001c0002 a0001c0009 a0001c0029 a0001c0037 a0002c0007 a0004c0005 a0009c0033	a0001c0001t0002 a0001c0002t0002 a0001c0002t0034 others(7): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0034 a0001c0002t0045 a0001c0009t0008 a0001c0029t0001 a0001c0037t0002 a0002c0007t0005 a0004c0005t0001 a0009c0033t0006	a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0093 others(10): Show a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0093 a0001c0002t0002g0025 a0001c0002t0034g0104 a0001c0002t0045g0103 a0001c0009t0008g0086 a0001c0009t0008g0091 a0001c0029t0001g0028 a0001c0037t0002g0070 a0002c0007t0005g0090 a0004c0005t0001g0029 a0009c0033t0006g0092	13	112	0.1161	15	c.235 others(32): Show c.235+2174_235+2188dupAAAAAAAAAAAAAAA	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	2/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82758400	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02280.hp1 HG02717.hp1 others(5): Show HG01361.hp1 HG02280.hp1 HG02717.hp1 HG02723.hp1 HG03669.hp1 NA18965.hp2 NA19081.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0017 a0001c0001 a0001c0002 a0001c0017	a0001c0001t0002 a0001c0001t0027 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0027 a0001c0002t0002 a0001c0017t0002	a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 others(5): Show a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0027g0050 a0001c0002t0002g0098 a0001c0002t0002g0105 a0001c0017t0002g0048	8	230	0.0348	15	c.235 others(32): Show c.235+2188_235+2189insAAAAAAAAAAATAAA	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	2/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82758400	A A	AAAAAAAA others(8): Show AAAAAAAAAAATAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	223	0.0045	15	c.235 others(32): Show c.235+2188_235+2189insAAAAAAATAAATAAA	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	2/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82849886	C C	CTGTTGGC others(8): Show CTGTTGGCTGTGCTGT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0009 a0002c0010t0009	a0002c0010t0009g0151 a0002c0010t0009g0151	1	316	0.0032	15	c.131 others(36): Show c.1319-20312_1319-20298dupGCTGTTGTTGGCTGT	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82849961	C C	CTGTTGGC others(8): Show CTGTTGGCTGTGCTGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0035 a0002c0007t0035	a0002c0007t0035g0004 a0002c0007t0035g0004	1	311	0.0032	15	c.131 others(36): Show c.1319-20249_1319-20248insTTGTTGGCTGTGCTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82850076	T T	TGCTCTTC others(8): Show TGCTCTTCTGCTGTTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03516.hp1 NA19070.hp1 others(1): Show HG02486.hp2 HG03516.hp1 NA19070.hp1 NA21309.hp2	a0001 a0002 a0020 a0001 a0002 a0020	a0001c0002 a0002c0011 a0002c0043 others(1): Show a0001c0002 a0002c0011 a0002c0043 a0020c0019	a0001c0002t0002 a0002c0011t0002 a0002c0043t0036 others(1): Show a0001c0002t0002 a0002c0011t0002 a0002c0043t0036 a0020c0019t0002	a0001c0002t0002g0025 a0002c0011t0002g0002 a0002c0043t0036g0001 others(1): Show a0001c0002t0002g0025 a0002c0011t0002g0002 a0002c0043t0036g0001 a0020c0019t0002g0169	4	237	0.0169	15	c.131 others(36): Show c.1319-20145_1319-20144insCTTCTGCTGTTGGCT	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82850076	T T	TGCTGTGC others(8): Show TGCTGTGCTGCTGTTG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0205 a0002c0003t0003g0205	1	234	0.0043	15	c.131 others(36): Show c.1319-20111_1319-20097dupCTGCTGTTGGCTGTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82850128	T T	TTGCTGTT others(8): Show TTGCTGTTGGCTGTGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00597.hp1 others(8): Show HG00323.hp2 HG00558.hp1 HG00597.hp1 HG01257.hp1 HG01258.hp1 HG01891.hp2 HG01943.hp1 HG02273.hp1 HG02976.hp1 NA18995.hp2 NA19007.hp1	a0002 a0012 a0002 a0012	a0002c0003 a0012c0021 a0002c0003 a0012c0021	a0002c0003t0003 a0002c0003t0039 a0012c0021t0009 a0002c0003t0003 a0002c0003t0039 a0012c0021t0009	a0002c0003t0003g0217 a0002c0003t0003g0227 a0002c0003t0003g0228 others(8): Show a0002c0003t0003g0217 a0002c0003t0003g0227 a0002c0003t0003g0228 a0002c0003t0003g0229 a0002c0003t0003g0252 a0002c0003t0003g0296 a0002c0003t0003g0300 a0002c0003t0003g0312 a0002c0003t0003g0315 a0002c0003t0039g0206 a0012c0021t0009g0272	11	59	0.1864	15	c.131 others(36): Show c.1319-20094_1319-20093insCTGTTGGCTGTGCTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82850152	G G	GCTGTGCT others(8): Show GCTGTGCTGTTGTTGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG02559.hp1 others(3): Show HG01884.hp1 HG02258.hp2 HG02559.hp1 HG03098.hp1 HG03471.hp2 NA20129.hp1	a0002 a0005 a0013 a0002 a0005 a0013	a0002c0007 a0002c0026 a0005c0013 others(1): Show a0002c0007 a0002c0026 a0005c0013 a0013c0046	a0002c0007t0011 a0002c0026t0008 a0005c0013t0011 others(1): Show a0002c0007t0011 a0002c0026t0008 a0005c0013t0011 a0013c0046t0011	a0002c0007t0011g0236 a0002c0026t0008g0235 a0005c0013t0011g0234 others(3): Show a0002c0007t0011g0236 a0002c0026t0008g0235 a0005c0013t0011g0234 a0005c0013t0011g0237 a0005c0013t0011g0238 a0013c0046t0011g0233	6	131	0.0458	15	c.131 others(36): Show c.1319-20063_1319-20049dupTTGTTGCCTGTGCTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar

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