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
TEX9_chr15_56360426_56435154	56426626	T T	TATATATA others(3): Show TATATATACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01516.hp1 HG01517.hp2 others(9): Show HG01167.hp2 HG01516.hp1 HG01517.hp2 HG02074.hp2 HG02738.hp2 HG06807.hp2 NA18941.hp2 NA18969.hp2 NA18973.hp1 NA19043.hp2 NA19063.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0001 a0001c0001t0002 a0001c0001t0012	a0001c0001t0001g0307 a0001c0001t0002g0027 a0001c0001t0002g0029 others(6): Show a0001c0001t0001g0307 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0218 a0001c0001t0002g0229 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0312 a0001c0001t0012g0025	12	380	0.0316	10	c.964 others(25): Show c.964-978_964-977insTATATACACA	TEX9	ENSG00000151575.15	transcript	ENST00000696102.1	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
TEX9_chr15_56360426_56435154	56426626	T T	TATATATA others(3): Show TATATATATAC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0310	1	380	0.0026	10	c.964 others(25): Show c.964-978_964-977insTATATATACA	TEX9	ENSG00000151575.15	transcript	ENST00000696102.1	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
TFAP2A_chr6_10391677_10420074	10399896	G G	GTCTCTCT others(3): Show GTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0056 a0001c0001t0007g0056	1	368	0.0027	10	c.103 others(27): Show c.1031+542_1031+551dupGAGAGAGAGA	TFAP2A	ENSG00000137203.15	transcript	ENST00000379613.10	protein_coding	6/6			chr6	TogoVar
TFAP2B_chr6_50813871_50852619	50826566	A A	AGCGCGCG others(3): Show AGCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	382	0.0026	10	c.541 others(27): Show c.541-2041_541-2032dupCGCGCGCGCG	TFAP2B	ENSG00000008196.13	transcript	ENST00000393655.4	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TFAP2D_chr6_50708526_50778033	50710573	G G	GATATATA others(3): Show GATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	334	0.0030	10	c.-34 others(21): Show c.-3483_-3482insATATATATAT	TFAP2D	ENSG00000008197.5	transcript	ENST00000008391.4	protein_coding		2952		chr6	TogoVar
TFAP2D_chr6_50708526_50778033	50742954	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00438.hp2 others(23): Show HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG02080.hp2 HG02165.hp1 HG02970.hp1 HG03017.hp2 HG03239.hp1 HG03654.hp2 HG04115.hp1 NA18963.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA19005.hp2 NA19060.hp2 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0004	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0072 others(23): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0172 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0002g0118 a0001c0001t0002g0223 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0320 a0001c0001t0002g0322 a0001c0001t0003g0044 a0002c0002t0004g0289	26	334	0.0778	10	c.884 others(27): Show c.884-2121_884-2112dupCACACACACA	TFAP2D	ENSG00000008197.5	transcript	ENST00000008391.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
TFAP2D_chr6_50708526_50778033	50743355	A A	ATTTTGTT others(3): Show ATTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02683.hp1 HG01361.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0325 a0001c0001t0004g0076 a0001c0001t0002g0325 a0001c0001t0004g0076	2	334	0.0060	10	c.884 others(27): Show c.884-1718_884-1709dupTGTTTTGTTT	TFAP2D	ENSG00000008197.5	transcript	ENST00000008391.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
TFAP2D_chr6_50708526_50778033	50766654	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0312 a0001c0001t0002g0312	1	334	0.0030	10	c.114 others(29): Show c.1140-5975_1140-5966dupTTTTTTTTTT	TFAP2D	ENSG00000008197.5	transcript	ENST00000008391.4	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
TFAP2E_chr1_35568314_35600328	35583603	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0274 a0001c0002t0001g0274	1	370	0.0027	10	c.563 others(27): Show c.563-4697_563-4688dupTGTGTGTGTG	TFAP2E	ENSG00000116819.9	transcript	ENST00000373235.4	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
TFAP2E_chr1_35568314_35600328	35587653	A A	AAAAAGGA others(3): Show AAAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02647.hp1 others(6): Show HG01891.hp1 HG02055.hp1 HG02647.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp2 HG03453.hp1 HG03516.hp2 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0180 others(4): Show a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0180 a0001c0003t0001g0188 a0001c0003t0001g0198 a0001c0003t0001g0282 a0001c0003t0001g0283	9	370	0.0243	10	c.563 others(25): Show c.563-674_563-673insAGGAAAGAAA	TFAP2E	ENSG00000116819.9	transcript	ENST00000373235.4	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
TFAP2E_chr1_35568314_35600328	35587653	A A	AAGAAAGA others(3): Show AAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0009 a0008c0010t0009	a0008c0010t0009g0286 a0008c0010t0009g0286	1	370	0.0027	10	c.563 others(25): Show c.563-676_563-675insGAAAGAAAGA	TFAP2E	ENSG00000116819.9	transcript	ENST00000373235.4	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
TFAP4_chr16_4252186_4278023	4272954	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0052 a0001c0001t0049g0052	1	404	0.0025	10	c.-21 others(19): Show c.-218_-209dupCACACACACA	TFAP4	ENSG00000090447.12	transcript	ENST00000204517.11	protein_coding	1/7	209		chr16	TogoVar
TFB1M_chr6_155251134_155319484	155287551	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02109.hp2 HG02135.hp1 others(9): Show HG00621.hp2 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG03225.hp1 NA18951.hp1 NA18954.hp2 NA18955.hp1 NA18972.hp1 NA18990.hp1 NA19011.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0004t0020	a0001c0001t0001g0074 a0001c0001t0001g0087 a0001c0001t0001g0089 others(9): Show a0001c0001t0001g0074 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0139 a0001c0001t0001g0152 a0001c0001t0006g0178 a0001c0001t0008g0097 a0001c0001t0014g0179 a0001c0004t0020g0166 a0001c0004t0020g0167	12	348	0.0345	10	c.547 others(27): Show c.547-2284_547-2275dupACACACACAC	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	4/6			chr6	TogoVar
TFB1M_chr6_155251134_155319484	155305597	A A	ATATATTA others(3): Show ATATATTAAAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0227 a0001c0001t0006g0227	1	348	0.0029	10	c.285 others(27): Show c.285+5590_285+5591insATTTAATATA	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
TFB1M_chr6_155251134_155319484	155307136	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01433.hp1 HG02683.hp1 others(14): Show HG00738.hp2 HG01433.hp1 HG02683.hp1 HG02738.hp2 HG03139.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03834.hp2 NA18941.hp1 NA18952.hp1 NA18957.hp1 NA19006.hp2 NA19009.hp1 NA19012.hp2 NA19074.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0025 others(1): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0025 a0001c0001t0040	a0001c0001t0002g0008 a0001c0001t0002g0297 a0001c0001t0002g0299 others(12): Show a0001c0001t0002g0008 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0016g0309 a0001c0001t0025g0310 a0001c0001t0025g0311 a0001c0001t0040g0298	17	348	0.0489	10	c.285 others(27): Show c.285+4042_285+4051dupGTGTGTGTGT	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
TFCP2L1_chr2_121211587_121290202	121227681	C C	CAAATAAA others(3): Show CAAATAAAATA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0083 a0001c0008t0083	a0001c0008t0083g0348 a0001c0008t0083g0348	1	378	0.0027	10	c.134 others(29): Show c.1342-2078_1342-2069dupTATTTTATTT	TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding	13/14			chr2	TogoVar
TFCP2L1_chr2_121211587_121290202	121227720	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG02622.hp2 others(11): Show HG00639.hp1 HG01081.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp1 HG03017.hp1 HG03490.hp2 HG03710.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp1 NA19010.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0006 others(1): Show a0001c0001 a0001c0002 a0002c0006 a0003c0005	a0001c0001t0007 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0001t0007 a0001c0002t0002 a0001c0002t0003 a0001c0002t0020 a0002c0006t0007 a0003c0005t0002	a0001c0001t0007g0157 a0001c0002t0002g0237 a0001c0002t0002g0265 others(10): Show a0001c0001t0007g0157 a0001c0002t0002g0237 a0001c0002t0002g0265 a0001c0002t0002g0340 a0001c0002t0003g0169 a0001c0002t0003g0178 a0001c0002t0003g0204 a0001c0002t0020g0005 a0001c0002t0020g0007 a0002c0006t0007g0062 a0002c0006t0007g0127 a0003c0005t0002g0003 a0003c0005t0002g0233	14	378	0.0370	10	c.134 others(29): Show c.1342-2117_1342-2108dupGTGTGTGTGT	TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding	13/14			chr2	TogoVar
TFCP2L1_chr2_121211587_121290202	121232107	T T	TTTTTGTT others(3): Show TTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01081.hp1 HG03017.hp2 others(4): Show HG00673.hp2 HG01081.hp1 HG03017.hp2 NA18982.hp1 NA18986.hp1 NA19010.hp1 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0295 a0001c0002t0002g0333 a0001c0002t0002g0342 others(4): Show a0001c0002t0002g0295 a0001c0002t0002g0333 a0001c0002t0002g0342 a0001c0002t0003g0094 a0001c0002t0003g0204 a0001c0002t0003g0207 a0001c0002t0003g0218	7	378	0.0185	10	c.119 others(27): Show c.1199-149_1199-140dupCAAAACAAAA	TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding	12/14			chr2	TogoVar
TFCP2L1_chr2_121211587_121290202	121250346	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0158 a0001c0002t0003g0158	1	378	0.0027	10	c.215 others(25): Show c.215-709_215-700dupTATATATATA	TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding	2/14			chr2	TogoVar
TFCP2L1_chr2_121211587_121290202	121275398	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00735.hp1 HG01243.hp1 others(27): Show HG00597.hp1 HG00735.hp1 HG01243.hp1 HG01346.hp1 HG02109.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03516.hp1 NA18940.hp2 NA18944.hp2 NA18960.hp1 NA18967.hp1 NA18970.hp1 NA18978.hp2 NA18983.hp1 NA18986.hp2 NA18994.hp1 NA19005.hp1 NA19010.hp2 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19066.hp1 NA19083.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0002t0002 a0001c0002t0003 a0001c0002t0021 a0001c0002t0022 a0001c0003t0005 a0001c0003t0006 a0001c0003t0014 a0001c0003t0075 a0001c0004t0023 a0002c0007t0002	a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0042 others(27): Show a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0063 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0152 a0001c0001t0004g0248 a0001c0001t0004g0267 a0001c0001t0004g0351 a0001c0001t0012g0371 a0001c0001t0013g0087 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0265 a0001c0002t0003g0041 a0001c0002t0003g0088 a0001c0002t0003g0151 a0001c0002t0021g0015 a0001c0002t0022g0185 a0001c0003t0005g0266 a0001c0003t0006g0092 a0001c0003t0014g0091 a0001c0003t0075g0273 a0001c0004t0023g0201 a0002c0007t0002g0255	30	378	0.0794	10	c.214 others(27): Show c.214+5712_214+5721dupTTTTTTTTTT	TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding	2/14			chr2	TogoVar
TFCP2_chr12_51088656_51178135	51091599	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01099.hp2 HG02717.hp1 others(1): Show HG01070.hp1 HG01099.hp2 HG02717.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0026 a0001c0001t0032 a0001c0001t0011 a0001c0001t0026 a0001c0001t0032	a0001c0001t0011g0102 a0001c0001t0026g0133 a0001c0001t0032g0340 others(1): Show a0001c0001t0011g0102 a0001c0001t0026g0133 a0001c0001t0032g0340 a0001c0001t0032g0341	4	348	0.0115	10	c.36 others(21): Show c.3641_*3642insCACACACACA	TFCP2	ENSG00000135457.11	transcript	ENST00000257915.10	protein_coding		2056		chr12	TogoVar
TFCP2_chr12_51088656_51178135	51115064	G G	GAAAAAAA others(3): Show GAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(63): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00597.hp1 HG00609.hp1 HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01192.hp2 HG01255.hp2 HG01358.hp2 HG01515.hp2 HG01517.hp2 HG01978.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp2 HG02293.hp2 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02683.hp1 HG02818.hp2 HG03225.hp2 HG03490.hp2 HG03491.hp2 HG03579.hp1 HG03688.hp1 HG03927.hp2 HG04184.hp1 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18959.hp1 NA18972.hp2 NA18973.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18989.hp1 NA18991.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19007.hp2 NA19012.hp1 NA19056.hp2 NA19058.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19072.hp1 NA19080.hp1 NA19084.hp1 NA19084.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0038	a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0252 others(61): Show a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0003g0069 a0001c0001t0003g0075 a0001c0001t0003g0096 a0001c0001t0003g0108 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0004g0192 a0001c0001t0004g0197 a0001c0001t0012g0019 a0001c0001t0012g0037 a0001c0001t0012g0039 a0001c0001t0016g0117 a0001c0001t0018g0246 a0001c0001t0022g0006 a0001c0001t0022g0339 a0001c0001t0023g0062 a0001c0001t0024g0026 a0001c0001t0038g0334	66	348	0.1897	10	c.457 others(27): Show c.457+1241_457+1250dupTTTTTTTTTT	TFCP2	ENSG00000135457.11	transcript	ENST00000257915.10	protein_coding	4/14			chr12	TogoVar
TFCP2_chr12_51088656_51178135	51132357	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01255.hp1 others(22): Show HG00735.hp1 HG00741.hp1 HG01255.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01952.hp1 HG01993.hp2 HG02083.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02615.hp1 HG03669.hp2 NA18949.hp1 NA18972.hp1 NA18986.hp1 NA18998.hp2 NA18999.hp2 NA19068.hp1 NA19072.hp2 NA19088.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0018 a0001c0001t0025	a0001c0001t0001g0140 a0001c0001t0001g0221 a0001c0001t0001g0222 others(22): Show a0001c0001t0001g0140 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0238 a0001c0001t0001g0261 a0001c0001t0001g0329 a0001c0001t0004g0158 a0001c0001t0004g0181 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0187 a0001c0001t0004g0191 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0228 a0001c0001t0005g0255 a0001c0001t0005g0286 a0001c0001t0005g0290 a0001c0001t0006g0126 a0001c0001t0006g0134 a0001c0001t0009g0309 a0001c0001t0013g0159 a0001c0001t0018g0246 a0001c0001t0025g0050	25	348	0.0718	10	c.123 others(29): Show c.123-13595_123-13586dupAAAAAAAAAA	TFCP2	ENSG00000135457.11	transcript	ENST00000257915.10	protein_coding	1/14			chr12	TogoVar
TFCP2_chr12_51088656_51178135	51149024	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00597.hp1 others(32): Show HG00280.hp2 HG00408.hp1 HG00597.hp1 HG00733.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01192.hp2 HG01255.hp2 HG01346.hp1 HG01515.hp2 HG01517.hp2 HG02300.hp1 HG02572.hp2 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG03491.hp2 HG04184.hp1 NA18954.hp1 NA18959.hp1 NA18981.hp2 NA18983.hp1 NA18989.hp1 NA18994.hp1 NA18998.hp1 NA19007.hp2 NA19058.hp1 NA19065.hp1 NA19068.hp2 NA19080.hp1 NA19088.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0015 a0001c0001t0023 a0001c0001t0025 a0001c0001t0033	a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0008 others(31): Show a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0064 a0001c0001t0004g0157 a0001c0001t0012g0019 a0001c0001t0012g0037 a0001c0001t0012g0039 a0001c0001t0015g0015 a0001c0001t0023g0062 a0001c0001t0025g0030 a0001c0001t0033g0009	35	348	0.1006	10	c.122 others(29): Show c.122+23267_122+23276dupTTTTTTTTTT	TFCP2	ENSG00000135457.11	transcript	ENST00000257915.10	protein_coding	1/14			chr12	TogoVar
TFCP2_chr12_51088656_51178135	51170343	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02622.hp2 HG03209.hp1 others(1): Show HG02258.hp1 HG02622.hp2 HG03209.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 others(1): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0039	a0001c0001t0004g0308 a0001c0001t0007g0310 a0001c0001t0009g0309 others(1): Show a0001c0001t0004g0308 a0001c0001t0007g0310 a0001c0001t0009g0309 a0001c0001t0039g0311	4	348	0.0115	10	c.122 others(27): Show c.122+1957_122+1958insAAAAAAAAAA	TFCP2	ENSG00000135457.11	transcript	ENST00000257915.10	protein_coding	1/14			chr12	TogoVar
TFCP2_chr12_51088656_51178135	51173870	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0165 a0001c0001t0007g0165	1	348	0.0029	10	c.-14 others(21): Show c.-1449_-1448insTTTTTTTTTT	TFCP2	ENSG00000135457.11	transcript	ENST00000257915.10	protein_coding		736		chr12	TogoVar
TFDP1_chr13_113579753_113646473	113584808	C C	CCCGCGCC others(3): Show CCCGCGCCTCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0210 a0001c0001t0010g0210	1	348	0.0029	10	c.-13 others(19): Show c.-137_-128dupTCTCCGCGCC	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	1/12	1012	INFO_REALIGN_3_PRIME	chr13	TogoVar
TFDP1_chr13_113579753_113646473	113625129	T T	TCTCACGT others(3): Show TCTCACGTGTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02572.hp1 others(8): Show HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02647.hp1 HG02965.hp1 HG03130.hp1 NA18522.hp2 NA18957.hp1 NA18980.hp1 NA19060.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0034 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0047	11	348	0.0316	10	c.186 others(27): Show c.186+1847_186+1848insCGTGTCCTCA	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
TFDP1_chr13_113579753_113646473	113625319	T T	TCTCTCAC others(3): Show TCTCTCACTTG	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA20129.hp1 NA18987.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0193 a0001c0002t0003g0035 a0001c0001t0001g0193 a0001c0002t0003g0035	2	348	0.0058	10	c.186 others(27): Show c.186+2033_186+2034insCTCTCACTTG	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11			chr13	TogoVar
TFDP1_chr13_113579753_113646473	113625699	T T	TCTCACGT others(3): Show TCTCACGTGTC	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA19030.hp2 NA20129.hp1 HG02027.hp2 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0002t0003g0035 a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0002t0003g0035	3	348	0.0086	10	c.186 others(27): Show c.186+2417_186+2418insCGTGTCCTCA	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
TFDP1_chr13_113579753_113646473	113625935	T T	TCTCTCAC others(3): Show TCTCTCACGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00621.hp2 others(13): Show HG00544.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG02080.hp1 HG02083.hp2 HG03654.hp1 NA18747.hp2 NA18943.hp1 NA18944.hp2 NA18974.hp1 NA18990.hp2 NA19000.hp1 NA19064.hp1 NA19079.hp2 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0297 a0001c0002t0001g0298 others(4): Show a0001c0002t0001g0001 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302	16	348	0.0460	10	c.186 others(27): Show c.186+2649_186+2650insCTCTCACGTG	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11			chr13	TogoVar
TFDP2_chr3_141939428_142154544	141965593	G G	GAAGGAAA others(3): Show GAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01261.hp2 HG02257.hp1 others(2): Show HG01243.hp1 HG01261.hp2 HG02257.hp1 HG02615.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0027 a0001c0001t0041 others(2): Show a0001c0001t0018 a0001c0001t0027 a0001c0001t0041 a0001c0001t0042 a0001c0001t0069	a0001c0001t0018g0032 a0001c0001t0027g0034 a0001c0001t0041g0024 others(2): Show a0001c0001t0018g0032 a0001c0001t0027g0034 a0001c0001t0041g0024 a0001c0001t0042g0025 a0001c0001t0069g0112	5	252	0.0198	10	c.733 others(27): Show c.733-1640_733-1631dupTCCTTTCCTT	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12			chr3	TogoVar
TFDP2_chr3_141939428_142154544	141968403	C C	CTCATATA others(3): Show CTCATATATAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0135 a0001c0001t0116g0135	1	252	0.0040	10	c.732 others(27): Show c.732+1669_732+1670insCTATATATGA	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12			chr3	TogoVar
TFDP2_chr3_141939428_142154544	141968434	A A	AACATATA others(3): Show AACATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp2 HG02647.hp2 others(7): Show HG02257.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG03041.hp1 HG03195.hp2 HG03486.hp1 HG03704.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0023 a0001c0001t0057 others(4): Show a0001c0001t0015 a0001c0001t0023 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062	a0001c0001t0015g0247 a0001c0001t0015g0249 a0001c0001t0015g0251 others(7): Show a0001c0001t0015g0247 a0001c0001t0015g0249 a0001c0001t0015g0251 a0001c0001t0023g0245 a0001c0001t0023g0246 a0001c0001t0057g0118 a0001c0001t0058g0236 a0001c0001t0060g0248 a0001c0001t0061g0071 a0001c0001t0062g0250	10	252	0.0397	10	c.732 others(27): Show c.732+1638_732+1639insATATATATGT	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12			chr3	TogoVar
TFDP2_chr3_141939428_142154544	141973093	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02895.hp2 HG02897.hp1 others(1): Show HG02559.hp1 HG02895.hp2 HG02897.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0060 a0001c0001t0099 a0001c0001t0012 a0001c0001t0060 a0001c0001t0099	a0001c0001t0012g0002 a0001c0001t0012g0003 a0001c0001t0060g0248 others(1): Show a0001c0001t0012g0002 a0001c0001t0012g0003 a0001c0001t0060g0248 a0001c0001t0099g0113	4	252	0.0159	10	c.663 others(25): Show c.663+945_663+954dupTATATATATA	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	8/12			chr3	TogoVar
TFDP2_chr3_141939428_142154544	141977089	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp2 HG03098.hp2 others(3): Show HG02280.hp2 HG02615.hp2 HG03098.hp2 HG03130.hp1 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0037 a0001c0001t0059 others(1): Show a0001c0001t0011 a0001c0001t0037 a0001c0001t0059 a0001c0002t0117	a0001c0001t0011g0005 a0001c0001t0011g0006 a0001c0001t0011g0007 others(3): Show a0001c0001t0011g0005 a0001c0001t0011g0006 a0001c0001t0011g0007 a0001c0001t0037g0004 a0001c0001t0059g0240 a0001c0002t0117g0234	6	252	0.0238	10	c.519 others(27): Show c.519+1421_519+1430dupATATATATAT	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	7/12			chr3	TogoVar
TFEB_chr6_41678978_41740608	41685573	A A	ACTAGAAC others(3): Show ACTAGAACTCT	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0140 a0007c0016t0001g0140	1	406	0.0025	10	c.952 others(25): Show c.952-505_952-496dupAGAGTTCTAG	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding	8/8			chr6	TogoVar
TFEB_chr6_41678978_41740608	41697408	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG00741.hp1 others(14): Show HG00280.hp2 HG00642.hp2 HG00741.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01515.hp2 HG02293.hp2 HG02559.hp2 HG03195.hp1 NA19030.hp2 NA20129.hp2 NA20805.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0008c0012	a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 a0008c0012t0001	a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0104 others(12): Show a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0104 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0342 a0001c0001t0001g0350 a0001c0002t0001g0098 a0001c0004t0002g0055 a0008c0012t0001g0229	17	406	0.0419	10	c.-22 others(27): Show c.-22-6183_-22-6174dupTTTTTTTTTT	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding	1/8			chr6	TogoVar
TFEB_chr6_41678978_41740608	41738132	G G	GCATATAT others(3): Show GCATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02257.hp1 HG02896.hp1 others(2): Show HG01081.hp1 HG02257.hp1 HG02896.hp1 HG03195.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0253 a0001c0001t0001g0254 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256	5	406	0.0123	10	c.-28 others(21): Show c.-2815_-2806dupTATATATATG	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding		2525		chr6	TogoVar
TFEB_chr6_41678978_41740608	41738146	A A	ATATATAT others(3): Show ATATATATACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0259 a0001c0005t0009g0259	1	406	0.0025	10	c.-28 others(21): Show c.-2820_-2819insCGTATATATA	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding		2539		chr6	TogoVar
TFEB_chr6_41678978_41740608	41738169	T T	TATATATA others(3): Show TATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG02055.hp1 HG02135.hp2 others(17): Show HG00140.hp2 HG02055.hp1 HG02135.hp2 HG02145.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp1 HG03041.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03669.hp2 HG03704.hp1 HG04199.hp1 HG04204.hp2 NA18971.hp2 NA19010.hp2 NA19080.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0004t0002 a0001c0005t0001 a0001c0005t0005	a0001c0001t0001g0273 a0001c0001t0002g0283 a0001c0001t0002g0289 others(16): Show a0001c0001t0001g0273 a0001c0001t0002g0283 a0001c0001t0002g0289 a0001c0002t0001g0279 a0001c0002t0001g0285 a0001c0003t0001g0282 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0001g0292 a0001c0003t0002g0278 a0001c0004t0002g0280 a0001c0005t0001g0026 a0001c0005t0001g0275 a0001c0005t0001g0276 a0001c0005t0001g0281 a0001c0005t0001g0284 a0001c0005t0001g0287 a0001c0005t0001g0345 a0001c0005t0005g0030	20	406	0.0493	10	c.-28 others(21): Show c.-2852_-2843dupGTATATATAT	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding		2562		chr6	TogoVar
TFEB_chr6_41678978_41740608	41738178	A A	ACATATAT others(3): Show ACATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0277 a0001c0003t0001g0277	1	406	0.0025	10	c.-28 others(21): Show c.-2852_-2851insCATATATATG	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding		2571		chr6	TogoVar
TFEB_chr6_41678978_41740608	41738181	T T	TATATATA others(3): Show TATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0082 a0001c0003t0001g0082	1	406	0.0025	10	c.-28 others(21): Show c.-2855_-2854insGTATATATAT	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding		2574		chr6	TogoVar
TFEB_chr6_41678978_41740608	41738205	T T	TATATATA others(3): Show TATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(145): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01934.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18963.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18995.hp1 NA18999.hp1 NA19004.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19054.hp2 NA19056.hp2 NA19059.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0006 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0010 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0004t0002 a0001c0004t0011 a0001c0005t0001 a0001c0005t0005 a0002c0006t0001 a0006c0008t0002	a0001c0001t0001g0048 a0001c0001t0001g0093 a0001c0001t0001g0273 others(128): Show a0001c0001t0001g0048 a0001c0001t0001g0093 a0001c0001t0001g0273 a0001c0001t0001g0315 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0058 a0001c0001t0002g0083 a0001c0001t0002g0094 a0001c0001t0002g0283 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0296 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0323 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0003g0076 a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0086 a0001c0002t0001g0279 a0001c0002t0001g0285 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0312 a0001c0002t0001g0316 a0001c0002t0001g0320 a0001c0002t0001g0322 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0332 a0001c0002t0001g0346 a0001c0002t0010g0321 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0010 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0033 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0041 a0001c0003t0001g0047 a0001c0003t0001g0052 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0092 a0001c0003t0001g0095 a0001c0003t0001g0277 a0001c0003t0001g0282 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0001g0292 a0001c0003t0001g0297 a0001c0003t0001g0298 a0001c0003t0001g0299 a0001c0003t0001g0310 a0001c0003t0001g0324 a0001c0003t0001g0325 a0001c0003t0001g0331 a0001c0003t0002g0278 a0001c0003t0004g0043 a0001c0004t0002g0034 a0001c0004t0002g0055 a0001c0004t0002g0280 a0001c0004t0002g0317 a0001c0004t0011g0352 a0001c0005t0001g0026 a0001c0005t0001g0039 a0001c0005t0001g0063 a0001c0005t0001g0096 a0001c0005t0001g0275 a0001c0005t0001g0276 a0001c0005t0001g0281 a0001c0005t0001g0284 a0001c0005t0001g0287 a0001c0005t0001g0345 a0001c0005t0005g0030 a0002c0006t0001g0027 a0002c0006t0001g0293 a0002c0006t0001g0294 a0002c0006t0001g0295 a0002c0006t0001g0300 a0006c0008t0002g0301	148	406	0.3645	10	c.-28 others(21): Show c.-2879_-2878insGTATATATAT	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding		2598		chr6	TogoVar
TFEB_chr6_41678978_41740608	41738205	T T	TATATATA others(3): Show TATATATATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG02280.hp2 HG01361.hp1 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0269 a0001c0005t0001g0270 a0001c0005t0001g0269 a0001c0005t0001g0270	2	406	0.0049	10	c.-28 others(21): Show c.-2888_-2879dupGCATATATAT	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding		2598		chr6	TogoVar
TFEB_chr6_41678978_41740608	41738253	T T	TATATATA others(3): Show TATATATATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01167.hp2 others(12): Show HG01070.hp2 HG01071.hp1 HG01167.hp2 HG01255.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp2 HG02965.hp1 HG03209.hp2 HG03579.hp2 HG03831.hp1 NA18906.hp2 NA18985.hp2 NA19087.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0011	a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 a0001c0007t0001 a0001c0011t0001	a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 others(10): Show a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0120 a0001c0002t0001g0149 a0001c0002t0001g0152 a0001c0004t0002g0125 a0001c0007t0001g0261 a0001c0011t0001g0265	15	406	0.0370	10	c.-29 others(21): Show c.-2927_-2926insGCATATATAT	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding		2646		chr6	TogoVar
TFEC_chr7_115930152_116035763	115934090	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG03195.hp1 HG03225.hp2 others(3): Show HG02572.hp2 HG03195.hp1 HG03225.hp2 HG03579.hp2 HG03688.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0150 a0001c0001t0001g0181 a0001c0001t0001g0185 others(3): Show a0001c0001t0001g0150 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0351 a0001c0001t0001g0364 a0001c0001t0024g0175	6	394	0.0152	10	c.64 others(21): Show c.6460_*6461insCACACACACA	TFEC	ENSG00000105967.16	transcript	ENST00000265440.12	protein_coding		1061		chr7	TogoVar
TFEC_chr7_115930152_116035763	115944013	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19081.hp1 HG02145.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0109 a0001c0001t0002g0203 a0001c0001t0001g0109 a0001c0001t0002g0203	2	394	0.0051	10	c.516 others(27): Show c.516-1983_516-1974dupAAAAAAAAAA	TFEC	ENSG00000105967.16	transcript	ENST00000265440.12	protein_coding	6/7			chr7	TogoVar
TFEC_chr7_115930152_116035763	115946396	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01884.hp2 HG01952.hp1 others(11): Show HG01261.hp2 HG01884.hp2 HG01952.hp1 HG01993.hp1 HG03669.hp1 HG03710.hp2 HG04199.hp1 NA18945.hp1 NA18994.hp1 NA18995.hp1 NA19056.hp2 NA19058.hp1 NA19072.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009	a0001c0001t0002g0046 a0001c0001t0002g0200 a0001c0001t0002g0205 others(9): Show a0001c0001t0002g0046 a0001c0001t0002g0200 a0001c0001t0002g0205 a0001c0001t0002g0209 a0001c0001t0002g0237 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0008g0003 a0001c0001t0008g0260 a0001c0001t0008g0262 a0001c0001t0009g0141	14	394	0.0355	10	c.516 others(27): Show c.516-4366_516-4357dupACACACACAC	TFEC	ENSG00000105967.16	transcript	ENST00000265440.12	protein_coding	6/7			chr7	TogoVar
TFEC_chr7_115930152_116035763	115974405	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0328 a0001c0001t0003g0328	1	394	0.0025	10	c.181 others(25): Show c.181-150_181-149insATATATATAT	TFEC	ENSG00000105967.16	transcript	ENST00000265440.12	protein_coding	2/7			chr7	TogoVar

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