Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
THSD4_chr15_71110471_71788383	71442660	G G	GTGTGTGT others(21): Show GTGTGTGTATGTATGTGTATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0051 a0001c0004t0008g0051	1	59	0.0169	28	c.115 others(49): Show c.1152+30838_1152+30839insGTGTGTATGTATGTGTATATATAT ATAT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71532283	A A	AGAGAGAG others(21): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0034 a0001c0003t0001g0034	1	62	0.0161	28	c.115 others(51): Show c.1152+120461_1152+120462insAGAGAGAGAGAGAGAGAGAGAG AGAGTG	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71724287	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG04228.hp1 HG02300.hp2 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0035 a0001c0002t0001 a0001c0002t0035	a0001c0002t0001g0023 a0001c0002t0035g0017 a0001c0002t0001g0023 a0001c0002t0035g0017	2	68	0.0294	28	c.135 others(47): Show c.1358-4261_1358-4260insATATATATATATATATATATATATAT TT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD7A_chr7_11365365_11837198	11509821	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02965.hp1 HG00639.hp2 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0007 a0001c0002t0003 a0001c0002t0007	a0001c0002t0003g0153 a0001c0002t0007g0068 a0001c0002t0003g0153 a0001c0002t0007g0068	2	59	0.0339	28	c.182 others(49): Show c.1823-27840_1823-27839insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	6/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11512942	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02622.hp1 HG02630.hp2 others(4): Show HG02257.hp1 HG02622.hp1 HG02630.hp2 HG02809.hp1 NA18906.hp1 NA19012.hp1 NA19063.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0020	a0001c0001 a0001c0002 a0002c0008 others(2): Show a0001c0001 a0001c0002 a0002c0008 a0003c0004 a0020c0024	a0001c0001t0021 a0001c0002t0006 a0002c0008t0018 others(2): Show a0001c0001t0021 a0001c0002t0006 a0002c0008t0018 a0003c0004t0002 a0020c0024t0050	a0001c0001t0021g0064 a0001c0001t0021g0078 a0001c0002t0006g0057 others(4): Show a0001c0001t0021g0064 a0001c0001t0021g0078 a0001c0002t0006g0057 a0001c0002t0006g0149 a0002c0008t0018g0174 a0003c0004t0002g0128 a0020c0024t0050g0006	7	84	0.0833	28	c.182 others(49): Show c.1822+28476_1822+28477insATATATATATATATATATATATAT ATAT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	6/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11546200	G G	GTGTGTGC others(21): Show GTGTGTGCGCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19030.hp2 NA19064.hp2 HG03516.hp1 NA19030.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0037 a0001c0002 a0001c0006 a0001c0037	a0001c0002t0006 a0001c0006t0001 a0001c0037t0059 a0001c0002t0006 a0001c0006t0001 a0001c0037t0059	a0001c0002t0006g0142 a0001c0006t0001g0051 a0001c0037t0059g0160 a0001c0002t0006g0142 a0001c0006t0001g0051 a0001c0037t0059g0160	3	122	0.0246	28	c.145 others(47): Show c.1454-3084_1454-3083insTGTGTGTGTGTGCGCGCGCGCGCACA CA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	4/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11769153	A A	ATATATAT others(21): Show ATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA18971.hp2 HG01069.hp1 NA18971.hp2	a0003 a0005 a0003 a0005	a0003c0004 a0005c0013 a0003c0004 a0005c0013	a0003c0004t0016 a0005c0013t0017 a0003c0004t0016 a0005c0013t0017	a0003c0004t0016g0095 a0005c0013t0017g0110 a0003c0004t0016g0095 a0005c0013t0017g0110	2	61	0.0328	28	c.190 others(47): Show c.190+62603_190+62604insAAAAAAAAAAAAAAAAAATATATATA TA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7B_chr2_136760545_137682718	136825718	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0005 a0005	a0005c0057 a0005c0057	a0005c0057t0013 a0005c0057t0013	a0005c0057t0013g0014 a0005c0057t0013g0014	1	32	0.0313	28	c.-35 others(47): Show c.-35-56410_-35-56409insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	136983358	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03579.hp1 NA19000.hp2 HG02809.hp2 HG03579.hp1 NA19000.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0036 a0002c0016 a0005c0033 a0001c0036 a0002c0016 a0005c0033	a0001c0036t0002 a0002c0016t0001 a0005c0033t0004 a0001c0036t0002 a0002c0016t0001 a0005c0033t0004	a0001c0036t0002g0050 a0002c0016t0001g0028 a0005c0033t0004g0016 a0001c0036t0002g0050 a0002c0016t0001g0028 a0005c0033t0004g0016	3	16	0.1875	28	c.140 others(47): Show c.140-73050_140-73049insACACACACACACACACACACACACAC AC	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137089266	G G	GTGTGTGT others(21): Show GTGTGTGTATATGTATATATACATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0044 a0002c0044	a0002c0044t0007 a0002c0044t0007	a0002c0044t0007g0059 a0002c0044t0007g0059	1	67	0.0149	28	c.951 others(45): Show c.951-5600_951-5599insATATGTATATATACATATATATGTGTGT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137089266	G G	GTGTGTGT others(21): Show GTGTGTGTGTATGTATATATACATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02622.hp2 HG02630.hp1	a0001 a0003 a0001 a0003	a0001c0013 a0003c0014 a0001c0013 a0003c0014	a0001c0013t0002 a0003c0014t0018 a0001c0013t0002 a0003c0014t0018	a0001c0013t0002g0030 a0003c0014t0018g0094 a0001c0013t0002g0030 a0003c0014t0018g0094	2	68	0.0294	28	c.951 others(45): Show c.951-5596_951-5595insGTATATATACATATATATGTGTGTGTAT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137211338	A A	ACACACAC others(21): Show ACACACACACACACACACACACACAGAGG	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18961.hp2 HG02976.hp2 NA18961.hp2	a0002 a0019 a0002 a0019	a0002c0003 a0019c0037 a0002c0003 a0019c0037	a0002c0003t0017 a0019c0037t0005 a0002c0003t0017 a0019c0037t0005	a0002c0003t0017g0080 a0019c0037t0005g0083 a0002c0003t0017g0080 a0019c0037t0005g0083	2	84	0.0238	28	c.172 others(49): Show c.1724-19682_1724-19681insGAGGCACACACACACACACACACA CACA	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137211344	A A	ACACACAC others(21): Show ACACACACACACACACACACACACAGAGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03540.hp2 NA18906.hp2 others(1): Show HG00735.hp2 HG03540.hp2 NA18906.hp2 NA19240.hp1	a0001 a0002 a0022 a0001 a0002 a0022	a0001c0001 a0002c0006 a0002c0030 others(1): Show a0001c0001 a0002c0006 a0002c0030 a0022c0022	a0001c0001t0001 a0002c0006t0002 a0002c0030t0004 others(1): Show a0001c0001t0001 a0002c0006t0002 a0002c0030t0004 a0022c0022t0003	a0001c0001t0001g0061 a0002c0006t0002g0035 a0002c0030t0004g0051 others(1): Show a0001c0001t0001g0061 a0002c0006t0002g0035 a0002c0030t0004g0051 a0022c0022t0003g0097	4	95	0.0421	28	c.172 others(49): Show c.1724-19679_1724-19678insACAGAGGCACACACACACACACAC ACAC	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(21): Show ACACACACACACACACACACACACAGAGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0015 a0015	a0015c0024 a0015c0024	a0015c0024t0014 a0015c0024t0014	a0015c0024t0014g0037 a0015c0024t0014g0037	1	67	0.0149	28	c.172 others(49): Show c.1724-19679_1724-19678insACACACACAGAGGCACACACACAC ACAC	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137518056	G G	GTTGGGCT others(21): Show GTTGGGCTCCCAATCACATATATATGTGA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0011 a0001c0012t0011	a0001c0012t0011g0095 a0001c0012t0011g0095	1	96	0.0104	28	c.313 others(49): Show c.3139-45156_3139-45129dupCCAATCACATATATATGTGATTGG GCTC	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137575725	C C	CACACACA others(21): Show CACACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0022 a0001c0005t0002g0022	1	73	0.0137	28	c.342 others(47): Show c.3423+3170_3423+3171insCACACATATATATATATATATATATA TA	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	17/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137575725	C C	CACACATA others(21): Show CACACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03540.hp2 HG02258.hp2 HG03540.hp2	a0015 a0022 a0015 a0022	a0015c0024 a0022c0022 a0015c0024 a0022c0022	a0015c0024t0014 a0022c0022t0003 a0015c0024t0014 a0022c0022t0003	a0015c0024t0014g0037 a0022c0022t0003g0097 a0015c0024t0014g0037 a0022c0022t0003g0097	2	74	0.0270	28	c.342 others(47): Show c.3423+3170_3423+3171insCACATATATATATATATATATATATA TA	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	17/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TH_chr11_2158929_2176815	2161713	G G	GTCCCCAC others(21): Show GTCCCCACACCCCTGTCCCCACACCCCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02809.hp1 HG03209.hp1 others(2): Show HG02717.hp2 HG02809.hp1 HG03209.hp1 HG03471.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0037 a0001c0002t0001g0015 a0001c0002t0001g0037	5	382	0.0131	28	c.25 others(39): Show c.2519_*2520insTAGGGGTGTGGGGACAGGGGTGTGGGGA	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2215		chr11	TogoVar
TH_chr11_2158929_2176815	2161791	C C	CACCCTGT others(21): Show CACCCTGTCCCCACACCCCTGTCCCCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0078	1	343	0.0029	28	c.24 others(39): Show c.2441_*2442insCCCGGGGACAGGGGTGTGGGGACAGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2137		chr11	TogoVar
TH_chr11_2158929_2176815	2161890	C C	CACCCCTA others(21): Show CACCCCTATCCCCACACCCCTGTCCCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00673.hp1 HG01515.hp1 others(3): Show HG00140.hp2 HG00673.hp1 HG01515.hp1 HG02155.hp2 HG02273.hp1 NA18947.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0022 a0001c0003t0001g0004 a0001c0003t0001g0022	6	373	0.0161	28	c.23 others(39): Show c.2342_*2343insCTGGGGACAGGGGTGTGGGGATAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2038		chr11	TogoVar
TH_chr11_2158929_2176815	2161904	G G	GGACCCCT others(21): Show GGACCCCTGTCCCCACACCCCTGTCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG03516.hp1 HG02723.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0085 a0001c0002t0001g0018 a0001c0002t0001g0085	2	362	0.0055	28	c.23 others(39): Show c.2328_*2329insTGGGGACAGGGGTGTGGGGACAGGGGTC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2024		chr11	TogoVar
TH_chr11_2158929_2176815	2161948	C C	CACCCCTG others(21): Show CACCCCTGTCCCCAGGACCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp1 others(94): Show HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG01109.hp2 HG01168.hp2 HG01175.hp2 HG01346.hp2 HG01358.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02602.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03225.hp2 HG03486.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18939.hp1 NA18940.hp1 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18966.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19060.hp1 NA19070.hp1 NA19074.hp2 NA19085.hp1 NA19086.hp2 NA19090.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0004 a0001c0006 others(3): Show a0001c0002 a0001c0004 a0001c0006 a0002c0001 a0003c0010 a0004c0015	a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 others(4): Show a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 a0002c0001t0001 a0002c0001t0003 a0003c0010t0001 a0004c0015t0001	a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0009 others(24): Show a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0001g0018 a0001c0002t0001g0033 a0001c0004t0001g0021 a0001c0006t0001g0023 a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0006 a0002c0001t0001g0010 a0002c0001t0001g0024 a0002c0001t0001g0031 a0002c0001t0001g0032 a0002c0001t0001g0035 a0002c0001t0001g0041 a0002c0001t0001g0054 a0002c0001t0001g0055 a0002c0001t0001g0064 a0002c0001t0001g0067 a0002c0001t0001g0071 a0002c0001t0001g0079 a0002c0001t0001g0083 a0002c0001t0003g0069 a0003c0010t0001g0036 a0004c0015t0001g0070	97	108	0.8981	28	c.22 others(39): Show c.2284_*2285insCCGGGGACAGGGTCCTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		1980		chr11	TogoVar
TH_chr11_2158929_2176815	2161948	C C	CACCCCTG others(21): Show CACCCCTGTCCCCAGGACCCTGTCCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0001	1	12	0.0833	28	c.22 others(39): Show c.2284_*2285insCCAGGGACAGGGTCCTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		1980		chr11	TogoVar
TIA1_chr2_70204444_70253628	70235541	A A	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0349 a0001c0002t0007g0349	1	111	0.0090	28	c.123 others(43): Show c.123+510_123+537dupACACACACACACACACACACACACACAC	TIA1	ENSG00000116001.17	transcript	ENST00000433529.7	protein_coding	2/12			chr2	TogoVar
TIAL1_chr10_119568465_119601964	119590800	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03516.hp2 HG02055.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0010 a0001c0002t0004 a0001c0002t0010	a0001c0002t0004g0275 a0001c0002t0010g0276 a0001c0002t0004g0275 a0001c0002t0010g0276	2	389	0.0051	28	c.33- others(43): Show c.33-2553_33-2552insTTTTCTTTCTTTCTTTCTTTCTTTCTTT	TIAL1	ENSG00000151923.18	transcript	ENST00000436547.7	protein_coding	1/11			chr10	TogoVar
TIAM1_chr21_31113418_31349261	31222707	A A	ATATATAT others(21): Show ATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0002 a0001c0002t0005g0002	1	117	0.0085	28	c.199 others(45): Show c.1995+698_1995+699insAAAAAAAAAAAAAAAAAATATATATATA	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	8/27			chr21	TogoVar
TIAM2_chr6_154990315_155262723	155002673	T T	TTTTATTT others(21): Show TTTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG01255.hp1 others(5): Show HG00639.hp2 HG01081.hp2 HG01255.hp1 HG01261.hp2 HG02165.hp1 HG02273.hp2 HG02886.hp1 NA19074.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0015	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0008c0013 a0015c0029	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0003t0032 a0008c0013t0001 a0015c0029t0001	a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0002t0001g0032 others(5): Show a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0002t0001g0032 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0032g0033 a0008c0013t0001g0010 a0015c0029t0001g0042	8	180	0.0444	28	c.-20 others(47): Show c.-209+7204_-209+7205insATTTATTTATTTATTTATTTATTTAT TT	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(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0006 a0001c0041t0006	a0001c0041t0006g0076 a0001c0041t0006g0076	1	35	0.0286	28	c.-20 others(49): Show c.-209+18434_-209+18461dupACACACACACACACACACACACAC ACAC	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155029629	C C	CTATATAT others(21): Show CTATATATAGTTATATAACTATATATAGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0012 a0001c0052t0012	a0001c0052t0012g0222 a0001c0052t0012g0222	1	222	0.0045	28	c.-20 others(49): Show c.-209+34164_-209+34165insTTATATATAGTTATATAACTATAT ATAG	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIFAB_chr5_135439226_135457351	135456391	G G	GGGAGGGC others(21): Show GGGAGGGCTATGTCCGTGCTCCAGCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	454	0.0022	28	c.-41 others(39): Show c.-4194_-4193insGCAGGCTGGAGCACGGACATAGCCCTCC	TIFAB	ENSG00000255833.2	transcript	ENST00000537858.2	protein_coding		4041		chr5	TogoVar
TIGAR_chr12_4316213_4365028	4319802	C C	CGTAGGTA others(21): Show CGTAGGTAATGGGAAGGAGTCAGGGTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01952.hp1 HG02280.hp1 others(1): Show HG01891.hp1 HG01952.hp1 HG02280.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0035 a0001c0001t0116 a0001c0002t0155 others(1): Show a0001c0001t0035 a0001c0001t0116 a0001c0002t0155 a0001c0002t0156	a0001c0001t0035g0242 a0001c0001t0116g0148 a0001c0002t0155g0045 others(1): Show a0001c0001t0035g0242 a0001c0001t0116g0148 a0001c0002t0155g0045 a0001c0002t0156g0045	4	413	0.0097	28	c.-14 others(39): Show c.-1470_-1469insGTAGGTAATGGGAAGGAGTCAGGGTGGA	TIGAR	ENSG00000078237.7	transcript	ENST00000179259.6	protein_coding		1410		chr12	TogoVar
TIMD4_chr5_156914292_156968226	156961657	G G	GCCAGGCA others(21): Show GCCAGGCATGGTGGCAGGCGCCCATAGTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG02615.hp1 others(16): Show HG01884.hp2 HG02451.hp2 HG02615.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03453.hp1 HG03540.hp1 NA18906.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0002g0005 others(12): Show a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0002g0005 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0003g0001 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0044	19	310	0.0613	28	c.58+ others(43): Show c.58+1456_58+1483dupGACTATGGGCGCCTGCCACCATGCCTGG	TIMD4	ENSG00000145850.9	transcript	ENST00000274532.7	protein_coding	1/8			chr5	TogoVar
TIMM17A_chr1_201950503_201975664	201959159	T T	TAACTGTC others(21): Show TAACTGTCACTGCCAAAAGAAGCCTGTGA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	466	0.0021	28	c.190 others(45): Show c.190+1587_190+1614dupACTGTCACTGCCAAAAGAAGCCTGTGAA	TIMM17A	ENSG00000134375.11	transcript	ENST00000367287.5	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TIMM22_chr17_992129_1008671	993460	C C	CCTCACAT others(21): Show CCTCACATAATCCACCCTCACATAATCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 NA20300.hp1 HG01891.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0064 a0001c0003t0021g0065 a0001c0003t0021g0064 a0001c0003t0021g0065	2	438	0.0046	28	c.-36 others(39): Show c.-3683_-3682insCTCACATAATCCACCCTCACATAATCCA	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3668		chr17	TogoVar
TIMM22_chr17_992129_1008671	999323	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01361.hp2 HG01496.hp2 others(1): Show HG01081.hp2 HG01361.hp2 HG01496.hp2 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0063 a0001c0001t0003g0036 a0001c0001t0003g0063	4	86	0.0465	28	c.436 others(43): Show c.436-180_436-153dupTATATATATATATATATATATATATATA	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(21): Show TATATATATATATATATATACATATATAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0055 a0001c0001t0006g0055	1	245	0.0041	28	c.436 others(43): Show c.436-153_436-152insTATATATATATATATATACATATATACA	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(21): Show TATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	245	0.0041	28	c.436 others(43): Show c.436-153_436-152insTATATATATATATATATATATATACACA	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(21): Show GTGTGTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01433.hp1 HG02145.hp1 others(6): Show HG00438.hp1 HG01433.hp1 HG02145.hp1 HG02698.hp1 HG02735.hp1 HG04204.hp2 HG06807.hp1 NA19068.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0042 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0121 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0240 a0001c0001t0002g0017	9	224	0.0402	28	c.49 others(39): Show c.4934_*4935insTATATATATATATATATATATATACACA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4395		chr14	TogoVar
TIMM9_chr14_58403495_58432531	58404099	G G	GTGTGTGT others(21): Show GTGTGTGTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG02080.hp1 HG02886.hp1 others(2): Show HG00140.hp2 HG02080.hp1 HG02886.hp1 NA19010.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0026 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0097 a0001c0001t0008g0249	5	220	0.0227	28	c.49 others(39): Show c.4934_*4935insTATATATATATATATATATATACACACA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4395		chr14	TogoVar
TIMM9_chr14_58403495_58432531	58404099	G G	GTGTGTGT others(21): Show GTGTGTGTGTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	216	0.0046	28	c.49 others(39): Show c.4934_*4935insTATATATATATATATATATACACACACA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4395		chr14	TogoVar
TIMM9_chr14_58403495_58432531	58404119	A A	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 NA19060.hp1 HG02280.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0210 a0001c0001t0001g0042 a0001c0001t0001g0210	2	30	0.0667	28	c.49 others(39): Show c.4914_*4915insAAAAAATATATATATATATATATATATA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4375		chr14	TogoVar
TIMM9_chr14_58403495_58432531	58404119	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01081.hp2 HG01167.hp2 others(5): Show HG00423.hp1 HG01081.hp2 HG01167.hp2 HG01934.hp1 HG03139.hp1 NA18612.hp2 NA18990.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0050 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0050 a0001c0001t0001g0100 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0189 a0001c0001t0001g0203	8	36	0.2222	28	c.49 others(39): Show c.4914_*4915insAAAAAAAATATATATATATATATATATA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4375		chr14	TogoVar
TIMM9_chr14_58403495_58432531	58404119	A A	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG02015.hp1 NA19004.hp1 others(1): Show HG01981.hp1 HG02015.hp1 NA19004.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0015 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0131	4	32	0.1250	28	c.49 others(39): Show c.4914_*4915insAAAAAAAAAATATATATATATATATATA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4375		chr14	TogoVar
TIMM9_chr14_58403495_58432531	58404119	A A	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 NA18941.hp1 NA18966.hp1 others(1): Show HG03669.hp1 NA18941.hp1 NA18966.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0036 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0036 a0001c0001t0001g0103	4	32	0.1250	28	c.49 others(39): Show c.4914_*4915insAAAAAAAAAAAATATATATATATATATA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4375		chr14	TogoVar
TIMM9_chr14_58403495_58432531	58404119	A A	ATATATAT others(21): Show ATATATATATATATATTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	29	0.0345	28	c.49 others(39): Show c.4914_*4915insAAAAAAAAAAAAAATATATATATATATA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4375		chr14	TogoVar
TIMP2_chr17_78847977_78930387	78893116	C C	CACATGTG others(21): Show CACATGTGTGTGCAGGGGTGTGTGTGCGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0205	1	312	0.0032	28	c.131 others(47): Show c.131-19225_131-19198dupACGCACACACACCCCTGCACACACAT GT	TIMP2	ENSG00000035862.13	transcript	ENST00000262768.11	protein_coding	1/4			chr17	TogoVar
TIMP2_chr17_78847977_78930387	78893260	G G	GGGGTGTG others(21): Show GGGGTGTGTGTGTAGGGGTGTGCGGGCAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02970.hp1 HG02280.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0038 a0001c0001t0029 a0001c0001t0038	a0001c0001t0029g0034 a0001c0001t0038g0123 a0001c0001t0029g0034 a0001c0001t0038g0123	2	314	0.0064	28	c.131 others(47): Show c.131-19369_131-19342dupTTGCCCGCACACCCCTACACACACAC CC	TIMP2	ENSG00000035862.13	transcript	ENST00000262768.11	protein_coding	1/4			chr17	TogoVar
TIMP2_chr17_78847977_78930387	78904091	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18906.hp2 HG02615.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0124 a0001c0001t0003g0309 a0001c0001t0002g0124 a0001c0001t0003g0309	2	177	0.0113	28	c.130 others(47): Show c.130+20867_130+20868insCACACACACACACACACACACACACA CA	TIMP2	ENSG00000035862.13	transcript	ENST00000262768.11	protein_coding	1/4			chr17	TogoVar
TIMP3_chr22_32796705_32868041	32814324	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGAAAGGAAGAAAGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA19091.hp1 HG01081.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0141 a0001c0002t0001g0330 a0001c0001t0004g0141 a0001c0002t0001g0330	2	51	0.0392	28	c.121 others(47): Show c.121+12218_121+12219insAAGGAAGAAAGGAAGAAAGAAAGAAA GA	TIMP3	ENSG00000100234.12	transcript	ENST00000266085.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
TIPIN_chr15_66331191_66361685	66342186	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0049 a0001c0006t0001g0049	1	15	0.0667	28	c.476 others(43): Show c.476-831_476-830insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	TIPIN	ENSG00000075131.10	transcript	ENST00000261881.9	protein_coding	6/7			chr15	TogoVar

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