Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
TFEB_chr6_41678978_41740608	41738205	T T	TATATATA others(37): Show TATATATATACATATATATATGCATATATATACATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0066 a0001c0005t0001g0066	1	214	0.0047	44	c.-28 others(55): Show c.-2879_-2878insGTATATATATATGTATATATATGCATATATATAT GTATATATAT	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding		2598		chr6	TogoVar
TFPI2_chr7_93880396_93895753	93888587	A A	AGGAAGGA others(37): Show AGGAAGGAAGGAAGGAAGGAAGGAAAGAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01123.hp1 HG01361.hp2 others(4): Show HG01081.hp2 HG01123.hp1 HG01361.hp2 HG01993.hp1 NA18975.hp1 NA18998.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0029 a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0002t0003g0029 a0001c0002t0003g0033 a0001c0002t0003g0034	7	186	0.0376	44	c.460 others(59): Show c.460+447_460+448insCTTTCTTTCTTTCTTTCTCTTTCCTTCCTT CCTTCCTTCCTTCC	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFPI2_chr7_93880396_93895753	93888587	A A	AGGAAGGA others(37): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0102 a0001c0002t0003g0102	1	180	0.0056	44	c.460 others(59): Show c.460+447_460+448insCTTTCTTTCTTTCTCTTTCCTTCCTTCCTT CCTTCCTTCCTTCC	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFPI2_chr7_93880396_93895753	93888587	A A	AGGAAGGA others(37): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0059 a0001c0002t0003g0059	1	180	0.0056	44	c.460 others(59): Show c.460+447_460+448insCTTTCTTTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCC	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFPI2_chr7_93880396_93895753	93888589	G G	GAGAAAGA others(37): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0067 a0001c0002t0003g0067	1	142	0.0070	44	c.460 others(59): Show c.460+445_460+446insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFPI2_chr7_93880396_93895753	93895275	T T	TTAGTGAA others(37): Show TTAGTGAACCATTAAGAATGGACTGTGCAATGTCTGCCCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	428	0.0023	44	c.-45 others(55): Show c.-4598_-4597insGGGAGGGGGCAGACATTGCACAGTCCATTCTTAA TGGTTCACTA	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding		4523		chr7	TogoVar
TGDS_chr13_94569054_94601152	94595518	G G	GAAACGGG others(37): Show GAAACGGGAAACTGGTGAGAAGTGGTCGCCGTAAGGATATACTTT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	372	0.0027	44	c.86+ others(57): Show c.86+489_86+532dupAAAGTATATCCTTACGGCGACCACTTCTCACC AGTTTCCCGTTT	TGDS	ENSG00000088451.11	transcript	ENST00000261296.7	protein_coding	1/11			chr13	TogoVar
THAP4_chr2_241579405_241642158	241619842	G G	GGTGAGTG others(37): Show GGTGAGTGAGGAGTCGGTGAGTGAGGGGTGAGTGAGGGGTGAGTC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0281 a0001c0002t0001g0281	1	388	0.0026	44	c.124 others(65): Show c.1240+13074_1240+13075insGACTCACCCCTCACTCACCCCTCA CTCACCGACTCCTCACTCAC	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	2/5			chr2	TogoVar
THAP5_chr7_108557132_108574706	108558377	G G	GTGTGTAT others(37): Show GTGTGTATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0008	1	334	0.0030	44	c.58 others(55): Show c.5813_*5814insTATATATATATATATATATATATATATATATATA TATATACACA	THAP5	ENSG00000177683.14	transcript	ENST00000415914.4	protein_coding		3754		chr7	TogoVar
THBS1_chr15_39576079_39604466	39581639	C C	CCTCTCTC others(37): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03130.hp1 HG02280.hp1 HG03130.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0021 a0002c0003t0021	a0002c0003t0021g0030 a0002c0003t0021g0030	2	244	0.0082	44	c.-29 others(59): Show c.-29-161_-29-160insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTC	THBS1	ENSG00000137801.11	transcript	ENST00000260356.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
THNSL1_chr10_25011612_25031664	25021716	T T	TTAACTTA others(37): Show TTAACTTAAATTTTTTTCCATTATAGACTCCACGTTTTGCAAAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	410	0.0024	44	c.-21 others(56): Show c.-215-24_-196dupAACTTAAATTTTTTTCCATTATAGACTCCACGT TTTGCAAAGAT	THNSL1	ENSG00000185875.13	transcript	ENST00000376356.5	protein_coding	2/3	1462	INFO_REALIGN_3_PRIME	chr10	TogoVar
THSD4_chr15_71110471_71788383	71724287	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0038 a0006c0013t0001g0038	1	67	0.0149	44	c.135 others(63): Show c.1358-4261_1358-4260insATATATATATATATATATATATATAT ATATATATATATATATTT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD7A_chr7_11365365_11837198	11512942	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	78	0.0128	44	c.182 others(65): Show c.1822+28476_1822+28477insATATATATATATATATATATATAT ATATATATATATATATATAT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	6/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11769153	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0051 a0001c0006t0001g0051	1	60	0.0167	44	c.190 others(63): Show c.190+62603_190+62604insAAAAAAAAAAAAAAAAAAAATATATA TATATATATATATATATA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11769153	A A	ATATATAT others(37): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0059 a0001c0037t0059	a0001c0037t0059g0160 a0001c0037t0059g0160	1	60	0.0167	44	c.190 others(63): Show c.190+62603_190+62604insAAAAAAAAAAAAAAAAAAAAAAAAAA TATATATATATATATATA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7B_chr2_136760545_137682718	137211340	A A	ACACACAC others(37): Show ACACACACACACACACACACACACACACACACACACACACAGAGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0016 a0001c0019t0016	a0001c0019t0016g0091 a0001c0019t0016g0091	1	76	0.0132	44	c.172 others(65): Show c.1724-19679_1724-19678insACACACACACACACAGAGGCACAC ACACACACACACACACACAC	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TH_chr11_2158929_2176815	2161578	A A	AGACCCCT others(37): Show AGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0074	1	206	0.0049	44	c.26 others(55): Show c.2654_*2655insCCGGGGACAGGGGTGTGGGGACAGGGGTCCTGGG GACAGGGGTC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2350		chr11	TogoVar
TH_chr11_2158929_2176815	2161579	G G	GACCCCTG others(37): Show GACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG02027.hp2 HG02129.hp1 others(2): Show HG01168.hp2 HG02027.hp2 HG02129.hp1 HG04228.hp2 NA18939.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0002 a0002c0001t0001g0008 a0002c0001t0001g0097 others(1): Show a0002c0001t0001g0002 a0002c0001t0001g0008 a0002c0001t0001g0097 a0002c0001t0001g0098	5	298	0.0168	44	c.26 others(55): Show c.2653_*2654insGTGGGGACAGGGGTCCTGGGGACAGGGGTCCTGG GGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2349		chr11	TogoVar
TH_chr11_2158929_2176815	2161621	C C	CACCCCTG others(37): Show CACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0069 a0002c0001t0003g0069	1	322	0.0031	44	c.26 others(55): Show c.2611_*2612insCCTGGGGACAGGGGTCCTGGGGACAGGGGTCTGG GGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2307		chr11	TogoVar
TH_chr11_2158929_2176815	2161677	A A	AGGACCCC others(37): Show AGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	151	0.0066	44	c.25 others(55): Show c.2555_*2556insCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTCC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2251		chr11	TogoVar
TH_chr11_2158929_2176815	2161678	G G	GGACCCCT others(37): Show GGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01934.hp1 HG02602.hp1 others(3): Show HG00735.hp2 HG01934.hp1 HG02602.hp1 HG03491.hp1 HG03492.hp2 HG04199.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0010 others(2): Show a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0010 a0002c0001t0001g0025 a0002c0001t0001g0073	6	287	0.0209	44	c.25 others(55): Show c.2554_*2555insGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGG GACAGGGGTC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2250		chr11	TogoVar
TH_chr11_2158929_2176815	2161705	A A	AGGACCCC others(37): Show AGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	318	0.0031	44	c.25 others(55): Show c.2527_*2528insCCGGGGACAGGGGTCTGGGGACAGGGGTGTGGGG ACAGGGGTCC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2223		chr11	TogoVar
TIAM1_chr21_31113418_31349261	31228235	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAGGAGAAATAATCTGATAAGGATTTTTCCTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0122 a0001c0001t0009g0122	1	187	0.0053	44	c.158 others(63): Show c.1585-2286_1585-2285insAAAGGAAAAATCCTTATCAGATTATT TCTCCTTTTTTTTTTTTT	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	6/27			chr21	TogoVar
TIGD2_chr4_89106533_89119901	89119115	A A	AAATATAT others(37): Show AAATATATATGTAGTATATATGTAAATATATATGTAGTATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02647.hp2 HG02886.hp1 others(5): Show HG02486.hp2 HG02647.hp2 HG02886.hp1 HG03130.hp2 HG03195.hp1 HG03453.hp1 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0001 a0001c0001t0012g0001 a0001c0001t0001g0001 a0001c0001t0012g0001	8	296	0.0270	44	c.45 others(55): Show c.4563_*4564insAATATATATGTAGTATATATGTAAATATATATGT AGTATATATG	TIGD2	ENSG00000180346.5	transcript	ENST00000603357.3	protein_coding		4215		chr4	TogoVar
TIGIT_chr3_114289028_114315288	114303575	A A	ATATATAT others(37): Show ATATATATATACATATATATGTATATATATATATACATATATATG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp1 HG02559.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0087 a0001c0001t0006g0151 a0001c0001t0006g0087 a0001c0001t0006g0151	2	401	0.0050	44	c.498 others(61): Show c.498+3882_498+3883insCATATATATGTATATATATATATACATA TATATGTATATATATA	TIGIT	ENSG00000181847.12	transcript	ENST00000383671.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
TIMM9_chr14_58403495_58432531	58404099	G G	GTGTGTGT others(37): Show GTGTGTGTATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	216	0.0046	44	c.49 others(55): Show c.4934_*4935insTATATATATATATATATATATATATATATATATA TATACACACA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4395		chr14	TogoVar
TIMP2_chr17_78847977_78930387	78904091	A A	ATGTGTGT others(37): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18971.hp2 NA19074.hp1 HG03195.hp1 NA18971.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0020 a0001c0002t0039 a0001c0001t0001 a0001c0001t0020 a0001c0002t0039	a0001c0001t0001g0295 a0001c0001t0020g0141 a0001c0002t0039g0143 a0001c0001t0001g0295 a0001c0001t0020g0141 a0001c0002t0039g0143	3	178	0.0169	44	c.130 others(63): Show c.130+20867_130+20868insCACACACACACACACACACACACACA CACACACACACACACACA	TIMP2	ENSG00000035862.13	transcript	ENST00000262768.11	protein_coding	1/4			chr17	TogoVar
TIMP3_chr22_32796705_32868041	32814324	A A	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0328 a0001c0001t0018g0328	1	50	0.0200	44	c.121 others(63): Show c.121+12218_121+12219insAAGAAAGAAAGAAAGAAAGAAAGAAA GGAAGAAAGAAAGAAAGA	TIMP3	ENSG00000100234.12	transcript	ENST00000266085.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
TIMP3_chr22_32796705_32868041	32814324	A A	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02055.hp2 others(10): Show HG01243.hp2 HG01884.hp2 HG02055.hp2 HG02258.hp2 HG02922.hp1 HG02970.hp1 HG03486.hp2 HG03516.hp2 HG03704.hp1 HG03927.hp2 NA18906.hp2 NA18945.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 others(7): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0022 a0001c0002t0003 a0001c0002t0016 a0001c0003t0003	a0001c0001t0005g0318 a0001c0001t0008g0282 a0001c0001t0008g0293 others(10): Show a0001c0001t0005g0318 a0001c0001t0008g0282 a0001c0001t0008g0293 a0001c0001t0011g0287 a0001c0001t0011g0288 a0001c0001t0012g0255 a0001c0001t0013g0061 a0001c0001t0015g0307 a0001c0001t0022g0278 a0001c0001t0022g0297 a0001c0002t0003g0117 a0001c0002t0016g0116 a0001c0003t0003g0118	13	62	0.2097	44	c.121 others(63): Show c.121+12218_121+12219insAAGAAAGAAAGAAAGAAAGGAAGAAA GGAAGAAAGAAAGAAAGA	TIMP3	ENSG00000100234.12	transcript	ENST00000266085.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
TJP2_chr9_69169277_69260208	69252580	C C	CTTCAAAA others(37): Show CTTCAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAATAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0004 a0011c0021t0004	a0011c0021t0004g0332 a0011c0021t0004g0332	1	354	0.0028	44	c.332 others(61): Show c.3322-235_3322-234insTTCAAAAAAAAAAAAAAAAAAAAAAATA AAAAAAAAAAAATAAA	TJP2	ENSG00000119139.21	transcript	ENST00000377245.9	protein_coding	21/22			chr9	TogoVar
TKTL1_chrX_154290795_154335350	154295407	C C	CCACGTGC others(37): Show CCACGTGCGGCACCACCCCCTGACACGTGCGGCACCACCCCCTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0217 a0001c0002t0002g0217	1	266	0.0038	44	c.-45 others(53): Show c.-453_-452insCACGTGCGGCACCACCCCCTGACACGTGCGGCACCA CCCCCTGA	TKTL1	ENSG00000007350.18	transcript	ENST00000369915.8	protein_coding		387		chrX	TogoVar
TLDC2_chr20_36871138_36899235	36880070	C C	CATATATA others(37): Show CATATATATATATGTATATATATATATGTGTGTGTATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18962.hp1 NA18951.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0166 a0001c0001t0001g0096 a0001c0001t0001g0166	2	159	0.0126	44	c.343 others(59): Show c.343-573_343-572insGTATATATATATATGTGTGTGTATATATAT ATATATATATATAT	TLDC2	ENSG00000101342.10	transcript	ENST00000217320.8	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
TLDC2_chr20_36871138_36899235	36890396	C C	CCCTTTCT others(37): Show CCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01943.hp1 HG02074.hp1 others(10): Show HG00609.hp1 HG01943.hp1 HG02074.hp1 HG04228.hp1 NA18943.hp2 NA18944.hp2 NA18948.hp2 NA18953.hp1 NA18988.hp1 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA19067.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0089 a0001c0001t0001g0109 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0220 a0004c0004t0001g0047	13	35	0.3714	44	c.17 others(59): Show c.17+993_*17+994insCCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	TLDC2	ENSG00000101342.10	transcript	ENST00000217320.8	protein_coding	6/6			chr20	TogoVar
TLDC2_chr20_36871138_36899235	36890396	C C	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02896.hp2 HG03579.hp2 HG02647.hp1 HG02896.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0007 a0001c0002t0001g0064 a0001c0002t0002g0022 a0001c0002t0001g0007 a0001c0002t0001g0064 a0001c0002t0002g0022	3	25	0.1200	44	c.17 others(61): Show c.17+1018_*17+1019insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	TLDC2	ENSG00000101342.10	transcript	ENST00000217320.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
TLE1_chr9_81578683_81694547	81675698	G G	GTTTTTTT others(37): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0298 a0001c0001t0024g0298	1	218	0.0046	44	c.234 others(61): Show c.234+9977_234+9978insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	TLE1	ENSG00000196781.16	transcript	ENST00000376499.8	protein_coding	4/19			chr9	TogoVar
TLL1_chr4_165868237_166109457	166052965	G G	GTGTATAT others(37): Show GTGTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18952.hp1 NA18962.hp2 others(4): Show HG02896.hp1 NA18952.hp1 NA18962.hp2 NA18967.hp2 NA18971.hp2 NA19074.hp1 NA19075.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0008	a0001c0001 a0001c0003 a0003c0008 others(2): Show a0001c0001 a0001c0003 a0003c0008 a0005c0023 a0008c0024	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0003t0001 a0003c0008t0017 a0005c0023t0001 a0008c0024t0001	a0001c0001t0001g0167 a0001c0001t0003g0115 a0001c0001t0007g0047 others(4): Show a0001c0001t0001g0167 a0001c0001t0003g0115 a0001c0001t0007g0047 a0001c0003t0001g0057 a0003c0008t0017g0140 a0005c0023t0001g0174 a0008c0024t0001g0139	7	77	0.0909	44	c.152 others(63): Show c.1525-2110_1525-2109insGTATATATATATATATATATATATAT ATATATATATATATATAT	TLL1	ENSG00000038295.8	transcript	ENST00000061240.7	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TLL1_chr4_165868237_166109457	166052965	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0212 a0001c0001t0004g0212	1	71	0.0141	44	c.152 others(63): Show c.1525-2110_1525-2109insGTGTGTGTGTGTATATATATATATAT ATATATATATATATATAT	TLL1	ENSG00000038295.8	transcript	ENST00000061240.7	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TLL1_chr4_165868237_166109457	166052965	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	71	0.0141	44	c.152 others(63): Show c.1525-2110_1525-2109insGTGTGTGTGTGTGTGTGTATATATAT ATATATATATATATATAT	TLL1	ENSG00000038295.8	transcript	ENST00000061240.7	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TM9SF4_chr20_32104714_32172256	32123218	A A	AGGGGGGA others(37): Show AGGGGGGAGGGGGAGAGGGGGAGGGGGGAGGGGGAGAGGGAGAGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	257	0.0039	44	c.16- others(59): Show c.16-9790_16-9789insGAGGGGGAGAGGGGGAGGGGGGAGGGGGAG AGGGAGAGGGGGGG	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TMC1_chr9_72516608_72843297	72650881	T T	TATATATA others(37): Show TATATATATAGATATATATATAAATATATATAGATATATATATAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	102	0.0098	44	c.16+ others(59): Show c.16+2218_16+2219insTATATATAGATATATATATAAATATATATA GATATATATATAAA	TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr9	TogoVar
TMC5_chr16_19412883_19504113	19438435	G G	GAGAAAGA others(37): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03834.hp2 NA18992.hp2 others(2): Show HG00609.hp2 HG03834.hp2 NA18992.hp2 NA19079.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0019 a0001c0001t0002 a0001c0001t0007 a0001c0001t0019	a0001c0001t0002g0285 a0001c0001t0002g0328 a0001c0001t0002g0333 others(2): Show a0001c0001t0002g0285 a0001c0001t0002g0328 a0001c0001t0002g0333 a0001c0001t0007g0222 a0001c0001t0019g0157	5	71	0.0704	44	c.-79 others(61): Show c.-79-1500_-79-1499insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAA	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMCC3_chr12_94562122_94655557	94594216	T T	TATATATA others(37): Show TATATATATATATATATATATATATATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0032 a0001c0001t0010g0032	1	236	0.0042	44	c.79- others(61): Show c.79-11679_79-11678insGTGTGTGTGTGTGTGTGTATATATATAT ATATATATATATATAT	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	1/3			chr12	TogoVar
TMEM108_chr3_133033391_133402775	133057433	G G	GTATGTAT others(37): Show GTATGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0144 a0001c0001t0008g0144	1	206	0.0049	44	c.-47 others(63): Show c.-47+11414_-47+11415insATGTATATATATATATATATATATAT ATATATATATATATATAT	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133078140	A A	AGTGTGTG others(37): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18906.hp1 HG02717.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0064 a0001c0001t0007g0068 a0001c0001t0003g0064 a0001c0001t0007g0068	2	174	0.0115	44	c.-47 others(63): Show c.-47+32139_-47+32140insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTG	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133342544	G G	GTGTATAT others(37): Show GTGTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03239.hp1 NA18963.hp1 HG02523.hp2 HG03239.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0104 a0001c0001t0002g0138 a0001c0001t0002g0061 a0001c0001t0002g0104 a0001c0001t0002g0138	3	133	0.0226	44	c.41- others(61): Show c.41-37207_41-37206insGTATATATATATATATATATATATATAT ATATATATATATATAT	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133342555	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0174	1	99	0.0101	44	c.41- others(61): Show c.41-37196_41-37195insTATATATATATATATATATATATATATA TATATACACACACACA	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133342555	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	99	0.0101	44	c.41- others(61): Show c.41-37196_41-37195insTATATATATATATATATATATATATATA TATATATACACACACA	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133342555	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0117 a0001c0001t0015g0117	1	99	0.0101	44	c.41- others(61): Show c.41-37196_41-37195insTATATATATATATATATATATATATATA TATATATATATATACA	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM114_chr16_8564500_8595511	8574582	C C	CTTCTTTC others(37): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	189	0.0053	44	c.302 others(61): Show c.302-2359_302-2358insAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAA	TMEM114	ENSG00000232258.7	transcript	ENST00000620492.5	protein_coding	2/3			chr16	TogoVar
TMEM120A_chr7_75981831_75999595	75989077	T T	TGGAGGGG others(37): Show TGGAGGGGTGGAGGTTGAGGGGGGGAGGGGTGGAGGTTGAGGGGG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01074.hp2 HG01169.hp2 others(19): Show HG01071.hp1 HG01074.hp2 HG01169.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01952.hp2 HG01975.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02735.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG04199.hp1 NA18966.hp1 NA19002.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0002 a0001c0007t0001 a0001c0001t0001 a0001c0002t0002 a0001c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0029 a0001c0001t0001g0033 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0002t0002g0235 a0001c0007t0001g0060	22	305	0.0721	44	c.377 others(57): Show c.377+87_377+88insCCCCCTCAACCTCCACCCCTCCCCCCCTCAAC CTCCACCCCTCC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar

Search by Variant

Search

Search Results