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	26673446	T T	TATATATA others(15): Show TATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	35	0.0286	22	c.704 others(37): Show c.704-329_704-328insTATATATATATACACACACACA	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D1_chr4_37886084_38144173	38052167	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0143 a0001c0001t0009g0143	1	98	0.0102	22	c.207 others(39): Show c.2072+114_2072+135dupTGTGTGTGTGTGTGTGTGTGTG	TBC1D1	ENSG00000065882.18	transcript	ENST00000698857.1	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D22A_chr22_46757650_47180693	47159331	A A	ACACACAC others(15): Show ACACACACACCATGTACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19030.hp2 HG06807.hp2 NA19030.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0019 a0001c0001t0001 a0005c0006t0019	a0001c0001t0001g0050 a0005c0006t0019g0019 a0001c0001t0001g0050 a0005c0006t0019g0019	2	73	0.0274	22	c.142 others(43): Show c.1426-14152_1426-14151insCACACACCACACACACCATGTA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47159915	G G	GCCACATA others(15): Show GCCACATACATGTGTCACATGCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG01496.hp2 others(33): Show HG00280.hp1 HG00639.hp2 HG01496.hp2 HG01515.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 NA18522.hp1 NA18522.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0002t0001 a0002c0003t0008 a0003c0005t0001	a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0051 others(33): Show a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0072 a0001c0001t0001g0090 a0001c0001t0001g0104 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0004g0022 a0001c0001t0004g0024 a0001c0001t0004g0045 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0008g0043 a0001c0001t0008g0048 a0001c0001t0009g0004 a0001c0001t0009g0013 a0001c0001t0009g0025 a0001c0001t0010g0023 a0001c0001t0010g0106 a0001c0001t0017g0109 a0001c0001t0018g0038 a0001c0001t0021g0103 a0001c0002t0001g0011 a0002c0003t0008g0034 a0003c0005t0001g0066	36	112	0.3214	22	c.142 others(43): Show c.1426-13581_1426-13560dupCACATACATGTGTCACATGCAC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47172002	G G	GCCCAGTG others(15): Show GCCCAGTGAGCCTACCCAGCACT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03098.hp2 NA19030.hp2 HG01243.hp2 HG03098.hp2 NA19030.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0005c0006 a0001c0001 a0001c0004 a0005c0006	a0001c0001t0005 a0001c0004t0020 a0005c0006t0019 a0001c0001t0005 a0001c0004t0020 a0005c0006t0019	a0001c0001t0005g0110 a0001c0004t0020g0033 a0005c0006t0019g0019 a0001c0001t0005g0110 a0001c0004t0020g0033 a0005c0006t0019g0019	3	71	0.0423	22	c.142 others(41): Show c.1426-1489_1426-1488insAGCCTACCCAGCACTCCCAGTG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47172010	T T	TGCCTACC others(15): Show TGCCTACCCAGCACTCCCAGTGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	79	0.0127	22	c.142 others(41): Show c.1426-1419_1426-1398dupCTACCCAGCACTCCCAGTGAGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0040	1	203	0.0049	22	c.31 others(33): Show c.3182_*3183insAAAAAAAAAAAAAAATATATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG02970.hp1 HG03540.hp1 HG00738.hp1 HG02970.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0020 a0002c0002t0002g0040 a0002c0002t0002g0002 a0002c0002t0002g0020 a0002c0002t0002g0040	3	205	0.0146	22	c.31 others(33): Show c.3182_*3183insAAAAAAAAAAATATATATATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	203	0.0049	22	c.31 others(33): Show c.3182_*3183insAAATATATATATATATATATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D2B_chr15_77989985_78082711	77990671	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0058 a0001c0002t0006g0058	1	37	0.0270	22	c.74 others(33): Show c.7467_*7488dupTGTGTGTGTGTGTGTGTGTGTG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		4313		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77990671	G G	GCGCGCGC others(15): Show GCGCGCGCACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0050 a0001c0002t0006g0050	1	37	0.0270	22	c.74 others(33): Show c.7488_*7489insTGTGTGTGTGTGTGTGCGCGCG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		4313		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77990671	G G	GCGCGCGC others(15): Show GCGCGCGCGCGCGCACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0029 a0001c0005t0029	a0001c0005t0029g0019 a0001c0005t0029g0019	1	37	0.0270	22	c.74 others(33): Show c.7488_*7489insTGTGTGTGTGCGCGCGCGCGCG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		4313		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77990671	G G	GCGCGCGC others(15): Show GCGCGCGCGCGCGCGCACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01123.hp2 others(7): Show HG01069.hp1 HG01071.hp2 HG01123.hp2 HG01891.hp2 HG02129.hp1 HG02602.hp2 HG02683.hp2 HG02735.hp1 HG03491.hp2 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0028 a0001c0002t0001g0065 a0002c0003t0001g0208 others(7): Show a0001c0002t0001g0028 a0001c0002t0001g0065 a0002c0003t0001g0208 a0002c0003t0001g0227 a0002c0003t0001g0233 a0002c0003t0001g0234 a0002c0003t0001g0238 a0002c0003t0001g0239 a0002c0003t0001g0249 a0002c0003t0001g0254	10	46	0.2174	22	c.74 others(33): Show c.7488_*7489insTGTGTGTGCGCGCGCGCGCGCG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		4313		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77990671	G G	GCGCGCGT others(15): Show GCGCGCGTGCGCGCGCACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0196 a0002c0003t0001g0196	1	37	0.0270	22	c.74 others(33): Show c.7488_*7489insTGTGTGTGCGCGCGCACGCGCG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		4313		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992814	T T	TCCCCCCC others(15): Show TCCCCCCCACTCCCCCCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0206 a0002c0003t0001g0206	1	231	0.0043	22	c.53 others(33): Show c.5324_*5345dupGAGTGGGGGGGGAGTGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2170		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992826	C C	CCCCCCAC others(15): Show CCCCCCACTCCCCCCACTCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0022 a0001c0002t0013g0022	1	274	0.0036	22	c.53 others(33): Show c.5333_*5334insAGTGGAGTGGGGGGAGTGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2158		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77993129	C C	CCCCTAAC others(15): Show CCCCTAACGCCCTACGCCCTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	152	0.0066	22	c.50 others(33): Show c.5030_*5031insCGTAGGGCGTAGGGCGTTAGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		1855		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040882	G G	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0236 a0002c0003t0001g0236	1	261	0.0038	22	c.683 others(39): Show c.683+4017_683+4018insTTCTTTCTTTCTTTCTTTCTTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D30_chr12_64819647_64886033	64840004	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0029 a0005c0009t0029	a0005c0009t0029g0241 a0005c0009t0029g0241	1	49	0.0204	22	c.932 others(39): Show c.932+1156_932+1177dupAAAAAAAAAAAAAAAAAAAAAA	TBC1D30	ENSG00000111490.15	transcript	ENST00000539867.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TBC1D31_chr8_123067707_123157153	123127261	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0146 a0001c0003t0001g0146	1	85	0.0118	22	c.188 others(39): Show c.1884+579_1884+600dupTTTTTTTTTTTTTTTTTTTTTT	TBC1D31	ENSG00000156787.17	transcript	ENST00000287380.6	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
TBC1D4_chr13_75278503_75487169	75404059	T T	TATATACA others(15): Show TATATACATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02615.hp2 HG02895.hp2 others(3): Show HG01496.hp1 HG02615.hp2 HG02895.hp2 HG03486.hp2 NA18522.hp1 NA19030.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0002c0002 a0003c0006	a0002c0002t0005 a0002c0002t0006 a0003c0006t0003 others(3): Show a0002c0002t0005 a0002c0002t0006 a0003c0006t0003 a0003c0006t0009 a0003c0006t0018 a0003c0006t0019	a0002c0002t0005g0182 a0002c0002t0006g0180 a0003c0006t0003g0181 others(3): Show a0002c0002t0005g0182 a0002c0002t0006g0180 a0003c0006t0003g0181 a0003c0006t0009g0179 a0003c0006t0018g0174 a0003c0006t0019g0209	6	139	0.0432	22	c.499 others(41): Show c.499-41453_499-41452insGTGTGTGTGTGTGTATGTATAT	TBC1D4	ENSG00000136111.14	transcript	ENST00000377636.8	protein_coding	1/20			chr13	TogoVar
TBC1D5_chr3_17152168_17747631	17284089	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02572.hp2 HG03471.hp1 others(4): Show HG00280.hp2 HG02572.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03669.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0133 a0001c0001t0003g0087 a0002c0002t0001g0086 others(4): Show a0001c0001t0001g0133 a0001c0001t0003g0087 a0002c0002t0001g0086 a0002c0002t0001g0112 a0002c0002t0001g0116 a0002c0002t0001g0119 a0002c0002t0001g0120	7	32	0.2188	22	c.124 others(41): Show c.1245+7784_1245+7805dupGTGTGTGTGTGTGTGTGTGTGT	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	15/22			chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17484455	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	64	0.0156	22	c.97+ others(39): Show c.97+23997_97+24018dupACACACACACACACACACACAC	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	3/22			chr3	TogoVar
TBC1D7_chr6_13299951_13333537	13310637	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0126 a0001c0002t0008g0126	1	199	0.0050	22	c.520 others(39): Show c.520-2893_520-2892insTTTTTTTTTTTTTTTTTTTTTT	TBC1D7	ENSG00000145979.18	transcript	ENST00000379300.8	protein_coding	5/7			chr6	TogoVar
TBC1D8B_chrX_106797673_106881150	106800407	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03453.hp2 HG03209.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0158 a0001c0002t0004g0007 a0001c0002t0004g0158	2	129	0.0155	22	c.-24 others(33): Show c.-2447_-2446insGTGTGTGTGTGTGTGTGTGTGT	TBC1D8B	ENSG00000133138.20	transcript	ENST00000357242.10	protein_coding		2265		chrX	TogoVar
TBC1D8B_chrX_106797673_106881150	106872455	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0157	1	9	0.1111	22	c.296 others(41): Show c.2968-1103_2968-1082dupATATATATATATATATATATAT	TBC1D8B	ENSG00000133138.20	transcript	ENST00000357242.10	protein_coding	20/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
TBC1D8_chr2_101002228_101156382	101054672	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	209	0.0048	22	c.403 others(37): Show c.403-358_403-337dupAAAAAAAAAAAAAAAAAAAAAA	TBC1D8	ENSG00000204634.13	transcript	ENST00000409318.2	protein_coding	3/19			chr2	TogoVar
TBC1D9_chr4_140615782_140761385	140687342	T T	TGTGTGTC others(15): Show TGTGTGTCATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0293 a0001c0001t0004g0293	1	268	0.0037	22	c.242 others(37): Show c.242-881_242-880insTATATATATATATATGACACAC	TBC1D9	ENSG00000109436.8	transcript	ENST00000442267.3	protein_coding	2/20			chr4	TogoVar
TBC1D9_chr4_140615782_140761385	140712449	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02965.hp2 HG03453.hp1 others(4): Show HG02615.hp1 HG02965.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0002	a0001c0001t0001g0156 a0001c0001t0002g0274 a0001c0002t0001g0190 others(4): Show a0001c0001t0001g0156 a0001c0001t0002g0274 a0001c0002t0001g0190 a0001c0002t0002g0092 a0001c0005t0001g0172 a0001c0005t0002g0103 a0001c0005t0002g0104	7	51	0.1373	22	c.131 others(41): Show c.131-10836_131-10835insATATATATATATATATATATAT	TBC1D9	ENSG00000109436.8	transcript	ENST00000442267.3	protein_coding	1/20			chr4	TogoVar
TBCB_chr19_36110468_36130941	36115496	C C	CGGCGGCT others(15): Show CGGCGGCTGCGGAGCGGGTGTGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	446	0.0022	22	c.-56 others(29): Show c.-56_-35dupCGGAGCGGGTGTGAGGCGGCTG	TBCB	ENSG00000105254.12	transcript	ENST00000221855.8	protein_coding	1/6	34	INFO_REALIGN_3_PRIME	chr19	TogoVar
TBCD_chr17_82747065_82950914	82751566	A A	ACCCGCCC others(15): Show ACCCGCCCCCGCCCCGCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02559.hp1 HG03098.hp1 others(1): Show HG02258.hp2 HG02559.hp1 HG03098.hp1 HG03471.hp2	a0002 a0005 a0013 a0002 a0005 a0013	a0002c0026 a0005c0013 a0013c0046 a0002c0026 a0005c0013 a0013c0046	a0002c0026t0008 a0005c0013t0011 a0013c0046t0011 a0002c0026t0008 a0005c0013t0011 a0013c0046t0011	a0002c0026t0008g0235 a0005c0013t0011g0234 a0005c0013t0011g0237 others(1): Show a0002c0026t0008g0235 a0005c0013t0011g0234 a0005c0013t0011g0237 a0013c0046t0011g0233	4	252	0.0159	22	c.-62 others(31): Show c.-628_-627insCCCGCCCCCGCCCCGCCCCCGC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding		498		chr17	TogoVar
TBCD_chr17_82747065_82950914	82758384	G G	GAAAAAAA others(15): Show GAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0128 a0004c0005t0001g0128	1	100	0.0100	22	c.235 others(39): Show c.235+2188_235+2189insAAAAAAAAAAAAAAAAAAAAAA	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	2/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82844206	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp2 HG01167.hp2 others(33): Show HG00738.hp1 HG01070.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01261.hp2 HG01496.hp2 HG01884.hp2 HG02109.hp2 HG02132.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02886.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03486.hp1 HG03516.hp2 NA18522.hp2 NA18747.hp2 NA18939.hp1 NA18963.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19240.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0009 a0001c0028 others(6): Show a0001c0001 a0001c0009 a0001c0028 a0002c0006 a0002c0007 a0002c0008 a0002c0010 a0002c0026 a0003c0018	a0001c0001t0002 a0001c0001t0006 a0001c0001t0025 others(11): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0025 a0001c0001t0042 a0001c0009t0008 a0001c0028t0002 a0002c0006t0005 a0002c0006t0021 a0002c0007t0004 a0002c0007t0005 a0002c0008t0007 a0002c0010t0009 a0002c0026t0008 a0003c0018t0024	a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0024 others(33): Show a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0024 a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0001t0002g0057 a0001c0001t0002g0073 a0001c0001t0002g0093 a0001c0001t0002g0306 a0001c0001t0002g0317 a0001c0001t0006g0011 a0001c0001t0006g0021 a0001c0001t0025g0020 a0001c0001t0042g0016 a0001c0009t0008g0086 a0001c0009t0008g0091 a0001c0009t0008g0094 a0001c0028t0002g0041 a0002c0006t0005g0116 a0002c0006t0021g0139 a0002c0006t0021g0141 a0002c0007t0004g0013 a0002c0007t0005g0155 a0002c0007t0005g0167 a0002c0008t0007g0142 a0002c0008t0007g0143 a0002c0008t0007g0144 a0002c0008t0007g0145 a0002c0008t0007g0146 a0002c0008t0007g0156 a0002c0008t0007g0158 a0002c0008t0007g0159 a0002c0010t0009g0148 a0002c0010t0009g0150 a0002c0026t0008g0235 a0003c0018t0024g0195	36	51	0.7059	22	c.131 others(43): Show c.1319-26009_1319-25988dupGTGTGTGTGTGTGTGTGTGTGT	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82887168	T T	TGTGTGTG others(15): Show TGTGTGTGTGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0013 a0003c0004t0013	a0003c0004t0013g0199 a0003c0004t0013g0199	1	187	0.0053	22	c.153 others(41): Show c.1534-2499_1534-2498insTGTGTGTGCGCGCGCGCGCGCG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	15/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82940221	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0024 a0003c0018t0024	a0003c0018t0024g0195 a0003c0018t0024g0195	1	73	0.0137	22	c.347 others(39): Show c.3479+749_3479+770dupACACACACACACACACACACAC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	37/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82946569	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01358.hp1 HG01361.hp1 others(11): Show HG00673.hp1 HG01358.hp1 HG01361.hp1 HG02258.hp1 HG02486.hp2 HG02965.hp2 HG03195.hp2 HG03491.hp1 HG03516.hp2 NA18943.hp2 NA18945.hp2 NA18983.hp2 NA19012.hp1 NA19240.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0009 a0017	a0001c0001 a0002c0006 a0002c0011 others(3): Show a0001c0001 a0002c0006 a0002c0011 a0006c0038 a0009c0033 a0017c0022	a0001c0001t0002 a0001c0001t0006 a0001c0001t0043 others(6): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0043 a0002c0006t0005 a0002c0006t0021 a0002c0011t0002 a0006c0038t0005 a0009c0033t0006 a0017c0022t0005	a0001c0001t0002g0047 a0001c0001t0002g0130 a0001c0001t0006g0055 others(11): Show a0001c0001t0002g0047 a0001c0001t0002g0130 a0001c0001t0006g0055 a0001c0001t0043g0081 a0002c0006t0005g0107 a0002c0006t0005g0116 a0002c0006t0005g0250 a0002c0006t0005g0298 a0002c0006t0021g0139 a0002c0006t0021g0141 a0002c0011t0002g0002 a0006c0038t0005g0117 a0009c0033t0006g0092 a0017c0022t0005g0284	14	108	0.1296	22	c.41 others(33): Show c.4106_*4107insGTGTGTGTGTGTGTGTGTGTGT	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding		656		chr17	TogoVar
TBCE_chr1_235362427_235457443	235412225	C C	CCCCTCCC others(15): Show CCCCTCCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0035 a0001c0005t0035	a0001c0005t0035g0260 a0001c0005t0035g0260	1	265	0.0038	22	c.186 others(39): Show c.186-2205_186-2204insTCCCCCTCCCCCCTCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCK_chr4_106036599_106321209	106123640	A A	AACCAAAA others(15): Show AACCAAAACAGCATGGTACTGGT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	318	0.0031	22	c.223 others(41): Show c.2236-7263_2236-7262insACCAGTACCATGCTGTTTTGGT	TBCK	ENSG00000145348.17	transcript	ENST00000394708.7	protein_coding	23/25			chr4	TogoVar
TBKBP1_chr17_47689161_47717052	47700289	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	97	0.0103	22	c.872 others(37): Show c.872+598_872+619dupTTTTTTTTTTTTTTTTTTTTTT	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(15): Show GTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01175.hp1 HG02886.hp2 others(1): Show HG00597.hp1 HG01175.hp1 HG02886.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0228 a0001c0001t0004g0257 a0001c0001t0009g0221 others(1): Show a0001c0001t0001g0228 a0001c0001t0004g0257 a0001c0001t0009g0221 a0001c0001t0010g0054	4	85	0.0471	22	c.80 others(33): Show c.8075_*8076insAAAAAAAAAAAAAAAAAAAAAA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding		1921		chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177071031	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03225.hp2 HG01891.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0153 a0001c0001t0005g0162 a0001c0001t0005g0153 a0001c0001t0005g0162	2	119	0.0168	22	c.-45 others(39): Show c.-45-6010_-45-6009insAAAAAAAAAAAAAAAAAAAAAA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	2/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177082738	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG02698.hp1 others(6): Show HG00735.hp2 HG01069.hp1 HG02698.hp1 HG02922.hp2 HG03209.hp2 HG03239.hp1 NA19003.hp1 NA19009.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0051 a0001c0001t0001g0073 a0001c0001t0001g0104 others(6): Show a0001c0001t0001g0051 a0001c0001t0001g0073 a0001c0001t0001g0104 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0200 a0001c0001t0001g0270 a0001c0001t0001g0279 a0001c0001t0023g0014	9	16	0.5625	22	c.-46 others(41): Show c.-46+15706_-46+15727dupTATATATATATATATATATATA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	2/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177082738	T T	TTTTATAT others(15): Show TTTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01123.hp1 HG01167.hp1 others(11): Show HG01081.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01361.hp2 HG01891.hp1 HG02293.hp2 HG02486.hp2 HG02895.hp1 HG02897.hp2 NA18946.hp2 NA18988.hp2 NA19054.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0027 a0001c0001t0053	a0001c0001t0002g0024 a0001c0001t0002g0040 a0001c0001t0002g0041 others(11): Show a0001c0001t0002g0024 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0078 a0001c0001t0002g0115 a0001c0001t0002g0209 a0001c0001t0002g0225 a0001c0001t0006g0171 a0001c0001t0006g0300 a0001c0001t0012g0103 a0001c0001t0027g0193 a0001c0001t0027g0197 a0001c0001t0053g0095	14	21	0.6667	22	c.-46 others(41): Show c.-46+15727_-46+15728insTATATATATATATATATATAAA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	2/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112074	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	234	0.0043	22	c.-12 others(43): Show c.-121-13555_-121-13534dupATATATATATATATATATATAT	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112107	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	161	0.0062	22	c.-12 others(43): Show c.-121-13567_-121-13566insAAAAAATATATATATATATATA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112107	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 NA19056.hp1 HG03490.hp1 HG03492.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0029 a0001c0001t0002g0001 a0001c0001t0002g0029	3	163	0.0184	22	c.-12 others(43): Show c.-121-13567_-121-13566insAAAAAAAATATATATATATATA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177134945	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02145.hp2 HG02451.hp2 others(3): Show HG00597.hp1 HG02145.hp2 HG02451.hp2 HG02615.hp1 HG02970.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0039	a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0189 others(3): Show a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0006g0302 a0001c0001t0009g0221 a0001c0001t0039g0179	6	205	0.0293	22	c.-12 others(43): Show c.-121-36405_-121-36404insCACACACACACACACACACACA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177134969	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0229 a0001c0001t0003g0229	1	252	0.0040	22	c.-12 others(43): Show c.-121-36429_-121-36428insGACACACACACACACACACACA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177134971	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01106.hp1 HG01257.hp2 others(14): Show HG00597.hp2 HG01106.hp1 HG01257.hp2 HG01934.hp1 HG02135.hp2 HG02486.hp1 NA18947.hp2 NA18963.hp2 NA18971.hp2 NA19003.hp2 NA19062.hp2 NA19066.hp2 NA19070.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0028 others(3): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0028 a0001c0001t0032 a0001c0001t0044 a0001c0001t0046	a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0021 others(14): Show a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0002g0052 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0086 a0001c0001t0012g0038 a0001c0001t0028g0003 a0001c0001t0032g0055 a0001c0001t0044g0015 a0001c0001t0046g0111	17	226	0.0752	22	c.-12 others(43): Show c.-121-36431_-121-36430insGACACACACACACACACACACA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1X_chrX_9460058_9724740	9479938	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01256.hp1 HG01358.hp1 others(8): Show HG00741.hp2 HG01256.hp1 HG01358.hp1 HG02647.hp1 HG03098.hp1 HG04115.hp1 NA18906.hp1 NA18960.hp1 NA18995.hp1 NA19009.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0028 a0001c0001t0039 a0001c0001t0042 a0001c0002t0007	a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0001g0088 others(8): Show a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0008g0087 a0001c0001t0010g0085 a0001c0001t0028g0077 a0001c0001t0039g0061 a0001c0001t0042g0022 a0001c0002t0007g0018	11	105	0.1048	22	c.-20 others(43): Show c.-201+14497_-201+14518dupGTGTGTGTGTGTGTGTGTGTGT	TBL1X	ENSG00000101849.18	transcript	ENST00000645353.2	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar

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