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
THSD7B_chr2_136760545_137682718	136933108	A A	ATTCCTTC others(17): Show ATTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA19043.hp2 HG00735.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0030 a0001c0001 a0002c0030	a0001c0001t0008 a0002c0030t0004 a0001c0001t0008 a0002c0030t0004	a0001c0001t0008g0012 a0002c0030t0004g0051 a0001c0001t0008g0012 a0002c0030t0004g0051	2	16	0.1250	24	c.139 others(43): Show c.139+50829_139+50852dupTCCTTCCTTCCTTCCTTCCTTCCT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	136983358	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03041.hp1 HG03195.hp2 others(2): Show HG02965.hp2 HG03041.hp1 HG03195.hp2 NA18990.hp1 NA19084.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0004 a0001c0005 a0001c0012 others(2): Show a0001c0004 a0001c0005 a0001c0012 a0003c0018 a0004c0008	a0001c0004t0002 a0001c0005t0002 a0001c0012t0004 others(2): Show a0001c0004t0002 a0001c0005t0002 a0001c0012t0004 a0003c0018t0001 a0004c0008t0001	a0001c0004t0002g0039 a0001c0005t0002g0022 a0001c0012t0004g0011 others(2): Show a0001c0004t0002g0039 a0001c0005t0002g0022 a0001c0012t0004g0011 a0003c0018t0001g0046 a0004c0008t0001g0040	5	18	0.2778	24	c.140 others(43): Show c.140-73050_140-73049insACACACACACACACACACACACAC	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137089266	G G	GTGTGTAC others(17): Show GTGTGTACGTATATATACATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0006 a0006	a0006c0048 a0006c0048	a0006c0048t0005 a0006c0048t0005	a0006c0048t0005g0093 a0006c0048t0005g0093	1	67	0.0149	24	c.951 others(41): Show c.951-5602_951-5601insACGTATATATACATATATATGTGT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137089266	G G	GTGTGTAT others(17): Show GTGTGTATGTATATATACATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18906.hp2 HG03139.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0001 a0002c0006t0002 a0001c0004t0001 a0002c0006t0002	a0001c0004t0001g0058 a0002c0006t0002g0035 a0001c0004t0001g0058 a0002c0006t0002g0035	2	68	0.0294	24	c.951 others(41): Show c.951-5602_951-5601insATGTATATATACATATATATGTGT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137211342	A A	ACACACAC others(17): Show ACACACACACACACACACACAGAGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0001 a0002c0028t0001	a0002c0028t0001g0054 a0002c0028t0001g0054	1	96	0.0104	24	c.172 others(45): Show c.1724-19682_1724-19681insGAGGCACACACACACACACACACA	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137211350	A A	ACACACAC others(17): Show ACACACACACACACACACACAGAGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03471.hp2 HG03225.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0002 a0001c0001t0001 a0001c0010t0002	a0001c0001t0001g0018 a0001c0010t0002g0020 a0001c0001t0001g0018 a0001c0010t0002g0020	2	68	0.0294	24	c.172 others(45): Show c.1724-19679_1724-19678insACACAGAGGCACACACACACACAC	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137303692	A A	ATTTATAT others(17): Show ATTTATATATATTTATATATATATT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0006 a0006	a0006c0046 a0006c0046	a0006c0046t0004 a0006c0046t0004	a0006c0046t0004g0017 a0006c0046t0004g0017	1	96	0.0104	24	c.250 others(45): Show c.2500+27668_2500+27691dupTTATATATATTTATATATATATTT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	12/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137389193	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0019 a0019	a0019c0037 a0019c0037	a0019c0037t0005 a0019c0037t0005	a0019c0037t0005g0083 a0019c0037t0005g0083	1	16	0.0625	24	c.250 others(45): Show c.2501-16419_2501-16396dupATATATATATATATATATATATAT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	12/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137519251	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02809.hp2 HG02965.hp2 others(1): Show HG02717.hp1 HG02809.hp2 HG02965.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0036 a0001c0053 others(1): Show a0001c0005 a0001c0036 a0001c0053 a0002c0003	a0001c0005t0002 a0001c0036t0002 a0001c0053t0005 others(1): Show a0001c0005t0002 a0001c0036t0002 a0001c0053t0005 a0002c0003t0001	a0001c0005t0002g0022 a0001c0036t0002g0050 a0001c0053t0005g0084 others(1): Show a0001c0005t0002g0022 a0001c0036t0002g0050 a0001c0053t0005g0084 a0002c0003t0001g0056	4	57	0.0702	24	c.313 others(45): Show c.3139-43968_3139-43945dupAATAAATAAATAAATAAATAAATA	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137575725	C C	CACACATA others(17): Show CACACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA19057.hp1 HG00738.hp2 NA19057.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0002 a0001c0005 a0003c0002	a0001c0005t0003 a0003c0002t0003 a0001c0005t0003 a0003c0002t0003	a0001c0005t0003g0077 a0003c0002t0003g0088 a0001c0005t0003g0077 a0003c0002t0003g0088	2	74	0.0270	24	c.342 others(43): Show c.3423+3170_3423+3171insCACATATATATATATATATATATA	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	17/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TIA1_chr2_70204444_70253628	70235541	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0301 a0001c0002t0007g0301	1	111	0.0090	24	c.123 others(39): Show c.123+514_123+537dupACACACACACACACACACACACAC	TIA1	ENSG00000116001.17	transcript	ENST00000433529.7	protein_coding	2/12			chr2	TogoVar
TIAL1_chr10_119568465_119601964	119570944	G G	GCTCTGCT others(17): Show GCTCTGCTGCCCAGGCTGGATTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0188 a0001c0001t0007g0188	1	396	0.0025	24	c.47 others(35): Show c.4720_*4721insTACAATCCAGCCTGGGCAGCAGAG	TIAL1	ENSG00000151923.18	transcript	ENST00000436547.7	protein_coding		2520		chr10	TogoVar
TIAL1_chr10_119568465_119601964	119590800	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGAAAGAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0274 a0001c0002t0004g0274	1	388	0.0026	24	c.33- others(39): Show c.33-2553_33-2552insTTTTCTTTCTTTCTTTCTTTCTTT	TIAL1	ENSG00000151923.18	transcript	ENST00000436547.7	protein_coding	1/11			chr10	TogoVar
TIAM1_chr21_31113418_31349261	31222707	A A	ATATATAT others(17): Show ATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0019 a0002c0004t0005g0019	1	117	0.0085	24	c.199 others(41): Show c.1995+698_1995+699insAAAAAAAAAAAAAATATATATATA	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	8/27			chr21	TogoVar
TIAM1_chr21_31113418_31349261	31222707	A A	ATATATAT others(17): Show ATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0157 a0002c0004t0001g0157	1	117	0.0085	24	c.199 others(41): Show c.1995+698_1995+699insAAAAAAAAAAAAAAAAAATATATA	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	8/27			chr21	TogoVar
TIAM1_chr21_31113418_31349261	31222707	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0016 a0002c0003t0003g0016	1	117	0.0085	24	c.199 others(41): Show c.1995+675_1995+698dupAAAAAAAAAAAAAAAAAAAAAAAA	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	8/27			chr21	TogoVar
TIAM1_chr21_31113418_31349261	31228245	A A	ATAATCTG others(17): Show ATAATCTGATAAGGATTTTTCCTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0127	1	154	0.0065	24	c.158 others(43): Show c.1585-2296_1585-2295insAAAGGAAAAATCCTTATCAGATTA	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	6/27			chr21	TogoVar
TIAM1_chr21_31113418_31349261	31271702	C C	CACCTCTC others(17): Show CACCTCTCCCCATAGTCAGGGTAAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG00639.hp1 others(70): Show HG00423.hp1 HG00621.hp2 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01175.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 NA18942.hp1 NA18948.hp1 NA18966.hp2 NA18978.hp2 NA18979.hp1 NA18983.hp1 NA18994.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19066.hp2 NA19087.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0010 a0011	a0001c0001 a0001c0002 a0001c0007 others(10): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0002c0004 a0002c0011 a0003c0005 a0003c0008 a0003c0010 a0003c0014 a0003c0015 a0010c0018 a0011c0012	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(34): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0012 a0001c0002t0023 a0001c0007t0002 a0001c0007t0003 a0002c0003t0002 a0002c0003t0003 a0002c0003t0008 a0002c0003t0010 a0002c0003t0011 a0002c0003t0015 a0002c0003t0024 a0002c0004t0001 a0002c0004t0005 a0002c0004t0007 a0002c0011t0030 a0003c0005t0001 a0003c0005t0004 a0003c0005t0012 a0003c0005t0025 a0003c0005t0033 a0003c0008t0006 a0003c0008t0017 a0003c0008t0026 a0003c0010t0002 a0003c0010t0006 a0003c0014t0001 a0003c0015t0004 a0010c0018t0001 a0011c0012t0008	a0001c0001t0002g0077 a0001c0001t0002g0132 a0001c0001t0002g0162 others(70): Show a0001c0001t0002g0077 a0001c0001t0002g0132 a0001c0001t0002g0162 a0001c0001t0002g0170 a0001c0001t0006g0114 a0001c0001t0008g0169 a0001c0001t0009g0133 a0001c0001t0009g0203 a0001c0001t0014g0046 a0001c0002t0001g0103 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0138 a0001c0002t0004g0056 a0001c0002t0004g0094 a0001c0002t0004g0098 a0001c0002t0005g0051 a0001c0002t0012g0086 a0001c0002t0012g0130 a0001c0002t0023g0065 a0001c0007t0002g0168 a0001c0007t0002g0208 a0001c0007t0003g0047 a0002c0003t0002g0102 a0002c0003t0002g0164 a0002c0003t0002g0191 a0002c0003t0002g0197 a0002c0003t0003g0007 a0002c0003t0003g0010 a0002c0003t0003g0014 a0002c0003t0003g0015 a0002c0003t0003g0016 a0002c0003t0003g0020 a0002c0003t0003g0040 a0002c0003t0003g0041 a0002c0003t0008g0180 a0002c0003t0010g0173 a0002c0003t0010g0190 a0002c0003t0011g0006 a0002c0003t0011g0031 a0002c0003t0015g0001 a0002c0003t0015g0017 a0002c0003t0024g0115 a0002c0004t0001g0076 a0002c0004t0001g0078 a0002c0004t0001g0089 a0002c0004t0001g0157 a0002c0004t0001g0165 a0002c0004t0001g0182 a0002c0004t0001g0198 a0002c0004t0005g0004 a0002c0004t0005g0019 a0002c0004t0005g0028 a0002c0004t0007g0196 a0002c0004t0007g0206 a0002c0011t0030g0161 a0003c0005t0001g0100 a0003c0005t0001g0184 a0003c0005t0001g0205 a0003c0005t0004g0075 a0003c0005t0012g0057 a0003c0005t0012g0080 a0003c0005t0025g0144 a0003c0005t0033g0209 a0003c0008t0006g0136 a0003c0008t0017g0137 a0003c0008t0026g0069 a0003c0010t0002g0204 a0003c0010t0006g0079 a0003c0014t0001g0146 a0003c0015t0004g0131 a0010c0018t0001g0087 a0011c0012t0008g0113	73	210	0.3476	24	c.-11 others(41): Show c.-11-4720_-11-4719insATTACCCTGACTATGGGGAGAGGT	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	3/27			chr21	TogoVar
TIAM2_chr6_154990315_155262723	154991590	T T	TTTATTAT others(17): Show TTTATTATTATTATTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0016 a0016	a0016c0063 a0016c0063	a0016c0063t0039 a0016c0063t0039	a0016c0063t0039g0068 a0016c0063t0039g0068	1	77	0.0130	24	c.-41 others(35): Show c.-4111_-4110insTTATTATTATTATTATTATTATTA	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding		3724		chr6	TogoVar
TIAM2_chr6_154990315_155262723	155002673	T T	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG01071.hp1 others(37): Show HG00099.hp1 HG00438.hp1 HG01071.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01346.hp1 HG01433.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02451.hp1 HG02486.hp1 HG02647.hp1 HG02683.hp1 HG02922.hp1 HG03195.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG04115.hp2 NA18747.hp1 NA18947.hp1 NA18947.hp2 NA18968.hp2 NA18982.hp1 NA18988.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA20905.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0017 a0022 a0024 a0026 a0028	a0001c0001 a0001c0002 a0001c0005 others(13): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0002c0003 a0002c0023 a0003c0006 a0004c0056 a0006c0010 a0008c0013 a0009c0017 a0017c0049 a0022c0025 a0024c0047 a0026c0046 a0028c0021	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(24): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0015 a0001c0001t0029 a0001c0001t0030 a0001c0002t0001 a0001c0002t0004 a0001c0005t0002 a0001c0005t0006 a0001c0008t0006 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0009 a0002c0023t0011 a0003c0006t0002 a0004c0056t0004 a0006c0010t0002 a0008c0013t0001 a0009c0017t0001 a0017c0049t0001 a0022c0025t0003 a0024c0047t0011 a0026c0046t0001 a0028c0021t0001	a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0021 others(37): Show a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0004g0019 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0010g0002 a0001c0001t0010g0004 a0001c0001t0015g0045 a0001c0001t0029g0049 a0001c0001t0030g0070 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0023 a0001c0002t0001g0037 a0001c0002t0001g0044 a0001c0002t0004g0030 a0001c0002t0004g0081 a0001c0005t0002g0047 a0001c0005t0006g0009 a0001c0008t0006g0039 a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0026 a0002c0003t0003g0007 a0002c0003t0004g0036 a0002c0003t0009g0024 a0002c0023t0011g0025 a0003c0006t0002g0011 a0004c0056t0004g0079 a0006c0010t0002g0031 a0008c0013t0001g0022 a0009c0017t0001g0015 a0009c0017t0001g0027 a0017c0049t0001g0035 a0022c0025t0003g0046 a0024c0047t0011g0014 a0026c0046t0001g0084 a0028c0021t0001g0028	40	212	0.1887	24	c.-20 others(43): Show c.-209+7204_-209+7205insATTTATTTATTTATTTATTTATTT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155013917	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA19082.hp2 HG01943.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0056 a0002c0003t0001g0052 a0001c0001t0001g0056 a0002c0003t0001g0052	2	36	0.0556	24	c.-20 others(45): Show c.-209+18438_-209+18461dupACACACACACACACACACACACAC	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155027709	A A	ATGTACTG others(17): Show ATGTACTGTGTTACATATATACTAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0181 a0001c0002t0022g0181	1	228	0.0044	24	c.-20 others(45): Show c.-209+32217_-209+32218insTGTACTGTGTTACATATATACTAT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26			chr6	TogoVar
TIAM2_chr6_154990315_155262723	155029442	A A	ATATAATA others(17): Show ATATAATATATACTATATATATAAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0224 a0001c0002t0013g0224	1	140	0.0071	24	c.-20 others(45): Show c.-209+33950_-209+33951insTATAATATATACTATATATATAAT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26			chr6	TogoVar
TIAM2_chr6_154990315_155262723	155082666	C C	CAATAAAT others(17): Show CAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19007.hp2 NA19081.hp1 others(1): Show HG01891.hp1 NA19007.hp2 NA19081.hp1 NA20300.hp2	a0001 a0004 a0031 a0001 a0004 a0031	a0001c0001 a0001c0043 a0004c0011 others(1): Show a0001c0001 a0001c0043 a0004c0011 a0031c0036	a0001c0001t0001 a0001c0043t0008 a0004c0011t0004 others(1): Show a0001c0001t0001 a0001c0043t0008 a0004c0011t0004 a0031c0036t0005	a0001c0001t0001g0143 a0001c0043t0008g0065 a0004c0011t0004g0169 others(1): Show a0001c0001t0001g0143 a0001c0043t0008g0065 a0004c0011t0004g0169 a0031c0036t0005g0188	4	69	0.0580	24	c.-20 others(43): Show c.-208-7602_-208-7579dupAATAAATAAATAAATAAATAAATA	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155187573	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp2 HG01256.hp2 others(1): Show HG01074.hp1 HG01109.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0007 a0001c0008 a0001c0007 a0001c0008	a0001c0007t0001 a0001c0008t0006 a0001c0007t0001 a0001c0008t0006	a0001c0007t0001g0090 a0001c0007t0001g0093 a0001c0007t0001g0167 others(1): Show a0001c0007t0001g0090 a0001c0007t0001g0093 a0001c0007t0001g0167 a0001c0008t0006g0153	4	91	0.0440	24	c.306 others(43): Show c.3064+4096_3064+4097insTTTTTTTTTTTTTTTTTTTTTTTT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TICAM2_chr5_115573496_115607479	115578195	A A	ATTTTTCT others(17): Show ATTTTTCTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0032 a0001c0001t0006g0032	1	117	0.0085	24	c.23 others(35): Show c.2353_*2354insAAAAAAAAAAAAAAAAAAGAAAAA	TICAM2	ENSG00000243414.6	transcript	ENST00000427199.3	protein_coding		300		chr5	TogoVar
TICRR_chr15_89570469_89633023	89633019	G G	GGAGGGAG others(17): Show GGAGGGAGGGAGGGAGGGAGGGAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	342	0.0029	24	c.59 others(35): Show c.5933_*5934insGAGGGAGGGAGGGAGGGAGGGAAC	TICRR	ENSG00000140534.14	transcript	ENST00000268138.12	protein_coding		4997		chr15	TogoVar
TIGD2_chr4_89106533_89119901	89119068	A A	AAAATTAT others(17): Show AAAATTATATATGTAGTATATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	428	0.0023	24	c.45 others(35): Show c.4516_*4517insAAATTATATATGTAGTATATATGT	TIGD2	ENSG00000180346.5	transcript	ENST00000603357.3	protein_coding		4168		chr4	TogoVar
TIGIT_chr3_114289028_114315288	114303496	T T	TATATATA others(17): Show TATATATATGTATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp1 HG03579.hp1 others(1): Show HG01884.hp2 HG02922.hp1 HG03579.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0173 a0001c0001t0007g0174 a0001c0001t0007g0175 others(1): Show a0001c0001t0007g0173 a0001c0001t0007g0174 a0001c0001t0007g0175 a0001c0001t0007g0189	4	420	0.0095	24	c.498 others(41): Show c.498+3814_498+3815insTACATATATATGTATATATATATA	TIGIT	ENSG00000181847.12	transcript	ENST00000383671.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
TIGIT_chr3_114289028_114315288	114303549	A A	ATGTATAT others(17): Show ATGTATATATATACACATATATATG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0064 a0001c0001t0004g0064	1	422	0.0024	24	c.498 others(41): Show c.498+3858_498+3859insCACATATATATGTGTATATATATA	TIGIT	ENSG00000181847.12	transcript	ENST00000383671.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
TIMELESS_chr12_56411363_56454426	56420029	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	255	0.0039	24	c.322 others(41): Show c.3228+539_3228+540insATATATATATATATATTTTTTTTT	TIMELESS	ENSG00000111602.12	transcript	ENST00000553532.6	protein_coding	26/28			chr12	TogoVar
TIMM10_chr11_57523464_57535754	57528483	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	45	0.0222	24	c.21 others(33): Show c.210_*233dupTATATATATATATATATATATATA	TIMM10	ENSG00000134809.9	transcript	ENST00000257245.9	protein_coding	3/3	233		chr11	TogoVar
TIMM17A_chr1_201950503_201975664	201966991	T T	TTATGTGT others(17): Show TTATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02698.hp1 HG02145.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0164 a0001c0001t0001g0054 a0001c0001t0001g0164	2	206	0.0097	24	c.430 others(41): Show c.430+1449_430+1450insATGTGTGTGTGTGTGTGTGTGTGT	TIMM17A	ENSG00000134375.11	transcript	ENST00000367287.5	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TIMM17B_chrX_48888449_48902768	48898459	G G	GAGCTGCT others(17): Show GAGCTGCTTGTCAGTTTGTTCGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	299	0.0033	24	c.-73 others(33): Show c.-734_-711dupAGACGAACAAACTGACAAGCAGCT	TIMM17B	ENSG00000126768.13	transcript	ENST00000696123.1	protein_coding		692		chrX	TogoVar
TIMM22_chr17_992129_1008671	999323	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0082 a0001c0001t0020g0082	1	83	0.0120	24	c.436 others(39): Show c.436-176_436-153dupTATATATATATATATATATATATA	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
TIMM22_chr17_992129_1008671	999358	T T	TATATATA others(17): Show TATATATATATATATACATATATAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0053 a0001c0001t0014g0053	1	245	0.0041	24	c.436 others(39): Show c.436-153_436-152insTATATATATATATACATATATACA	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
TIMM22_chr17_992129_1008671	999358	T T	TATATATA others(17): Show TATATATATATATATATACATACAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0089 a0001c0001t0008g0089	1	245	0.0041	24	c.436 others(39): Show c.436-153_436-152insTATATATATATATATACATACACA	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
TIMM22_chr17_992129_1008671	999358	T T	TATATATA others(17): Show TATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0092 a0001c0001t0008g0092	1	245	0.0041	24	c.436 others(39): Show c.436-153_436-152insTATATATATATATATATATACACA	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
TIMM22_chr17_992129_1008671	999358	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	245	0.0041	24	c.436 others(39): Show c.436-153_436-152insTATATATATATATATATATATACA	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
TIMM9_chr14_58403495_58432531	58404099	G G	GTGTGTAT others(17): Show GTGTGTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03942.hp2 NA18960.hp2 HG03704.hp1 HG03942.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0004 a0001c0001t0001g0231 a0001c0001t0001g0233	3	218	0.0138	24	c.49 others(35): Show c.4934_*4935insTATATATATATATATATATACACA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4395		chr14	TogoVar
TIMM9_chr14_58403495_58432531	58404119	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0067 a0001c0001t0004g0067	1	29	0.0345	24	c.49 others(35): Show c.4914_*4915insAAAATATATATATATATATATATA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4375		chr14	TogoVar
TIMM9_chr14_58403495_58432531	58404119	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 NA18986.hp1 HG02922.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0196 a0001c0001t0002g0017 a0001c0001t0001g0196 a0001c0001t0002g0017	2	30	0.0667	24	c.49 others(35): Show c.4914_*4915insAAAAAATATATATATATATATATA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4375		chr14	TogoVar
TIMM9_chr14_58403495_58432531	58404119	A A	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19070.hp2 NA19043.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0120 a0001c0001t0003g0029 a0001c0001t0001g0120 a0001c0001t0003g0029	2	30	0.0667	24	c.49 others(35): Show c.4914_*4915insAAAAAAAATATATATATATATATA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4375		chr14	TogoVar
TINAGL1_chr1_31571515_31592686	31580162	G G	GCTTTCTC others(17): Show GCTTTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	402	0.0025	24	c.374 others(39): Show c.374+897_374+898insTTCTCTCTCTCTCTCTCTCTCTCT	TINAGL1	ENSG00000142910.16	transcript	ENST00000271064.12	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
TINAGL1_chr1_31571515_31592686	31580199	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	311	0.0032	24	c.374 others(39): Show c.374+945_374+946insCTCTCTCTCTGTCTCTCTCTCTCT	TINAGL1	ENSG00000142910.16	transcript	ENST00000271064.12	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
TINAG_chr6_54303441_54395142	54360841	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0085 a0007c0007t0001g0085	1	58	0.0172	24	c.125 others(43): Show c.1250+6213_1250+6236dupTTTTTTTTTTTTTTTTTTTTTTTT	TINAG	ENSG00000137251.16	transcript	ENST00000259782.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIRAP_chr11_126278093_126299933	126285243	G G	GTGTGTGT others(17): Show GTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01175.hp2 HG01884.hp2 others(5): Show HG01123.hp2 HG01175.hp2 HG01884.hp2 HG02055.hp1 HG02109.hp2 HG03540.hp1 NA19004.hp1 NA19010.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0006 a0001c0003t0004 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0003t0004 a0002c0002t0002 a0004c0006t0010	a0001c0001t0001g0085 a0001c0001t0006g0059 a0001c0003t0004g0031 others(4): Show a0001c0001t0001g0085 a0001c0001t0006g0059 a0001c0003t0004g0031 a0001c0003t0004g0069 a0002c0002t0002g0157 a0002c0002t0002g0158 a0004c0006t0010g0146	8	65	0.1231	24	c.-21 others(43): Show c.-217+2091_-217+2092insGTGTGTATATATATATATATATAT	TIRAP	ENSG00000150455.15	transcript	ENST00000392679.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
TIRAP_chr11_126278093_126299933	126285243	G G	GTGTGTGT others(17): Show GTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp1 HG02602.hp1 others(5): Show HG00741.hp2 HG01106.hp1 HG02602.hp1 HG03017.hp1 HG03669.hp1 NA18961.hp2 NA18980.hp1 NA19091.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0014 a0001c0001t0001g0083 a0001c0001t0001g0090 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0083 a0001c0001t0001g0090 a0006c0008t0001g0091 a0006c0008t0001g0092	8	65	0.1231	24	c.-21 others(43): Show c.-217+2091_-217+2092insGTGTGTGTATATATATATATATAT	TIRAP	ENSG00000150455.15	transcript	ENST00000392679.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
TIRAP_chr11_126278093_126299933	126285243	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02451.hp1 HG03239.hp2 others(13): Show HG01255.hp1 HG02451.hp1 HG03239.hp2 HG03942.hp1 NA18961.hp1 NA18969.hp1 NA18971.hp2 NA18985.hp1 NA18992.hp1 NA18997.hp1 NA19011.hp2 NA19066.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19090.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0013 a0003c0004 others(1): Show a0001c0001 a0001c0013 a0003c0004 a0007c0007	a0001c0001t0001 a0001c0013t0018 a0003c0004t0001 others(2): Show a0001c0001t0001 a0001c0013t0018 a0003c0004t0001 a0003c0004t0009 a0007c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0099 a0001c0013t0018g0074 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0099 a0001c0013t0018g0074 a0003c0004t0001g0132 a0003c0004t0009g0126 a0003c0004t0009g0127 a0007c0007t0001g0003	16	73	0.2192	24	c.-21 others(43): Show c.-217+2091_-217+2092insGTGTGTGTGTATATATATATATAT	TIRAP	ENSG00000150455.15	transcript	ENST00000392679.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
TIRAP_chr11_126278093_126299933	126285243	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	58	0.0172	24	c.-21 others(43): Show c.-217+2091_-217+2092insGTGTGTGTGTGTATATATATATAT	TIRAP	ENSG00000150455.15	transcript	ENST00000392679.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar

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