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
TTLL11_chr9_121810674_122098308	121897640	A A	ACACACAC others(19): Show ACACACACACACACACACACACACGCG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG02735.hp1 others(2): Show HG01109.hp2 HG01243.hp2 HG02735.hp1 HG02970.hp2 HG03239.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0001 a0002c0003 a0004c0006 others(1): Show a0001c0001 a0002c0003 a0004c0006 a0010c0017	a0001c0001t0002 a0002c0003t0002 a0002c0003t0003 others(2): Show a0001c0001t0002 a0002c0003t0002 a0002c0003t0003 a0004c0006t0031 a0010c0017t0002	a0001c0001t0002g0132 a0002c0003t0002g0022 a0002c0003t0003g0015 others(2): Show a0001c0001t0002g0132 a0002c0003t0002g0022 a0002c0003t0003g0015 a0004c0006t0031g0047 a0010c0017t0002g0173	5	114	0.0439	26	c.148 others(47): Show c.1482-26893_1482-26892insCGCGTGTGTGTGTGTGTGTGTGTG TG	TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8			chr9	TogoVar
TTLL11_chr9_121810674_122098308	121899378	C C	CATATATA others(19): Show CATATATATATATATATATATACATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	118	0.0085	26	c.148 others(47): Show c.1482-28631_1482-28630insATATGTATATATATATATATATAT AT	TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8			chr9	TogoVar
TTLL11_chr9_121810674_122098308	122002944	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0137 a0001c0001t0040g0137	1	68	0.0147	26	c.694 others(45): Show c.694-13175_694-13174insTTTTTTTTTTTTTTTTTTTTTTTTTT	TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	3/8			chr9	TogoVar
TTLL5_chr14_75656246_75960079	75791105	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0196 a0002c0003t0002g0196	1	47	0.0213	26	c.298 others(45): Show c.2987-1792_2987-1791insAAAAAAAAAAAAAAAAAAAAAAAAAA	TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	26/31		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL5_chr14_75656246_75960079	75914033	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	61	0.0164	26	c.382 others(47): Show c.3823+11810_3823+11811insAAAAAATATATATATATATATATA TA	TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL5_chr14_75656246_75960079	75928342	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG01517.hp1 others(8): Show HG00408.hp1 HG00642.hp1 HG01517.hp1 HG02257.hp2 HG02630.hp1 HG02809.hp1 HG03688.hp1 NA18961.hp1 NA18962.hp1 NA19010.hp2 NA19077.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0003c0004t0001 a0004c0006t0001	a0001c0001t0001g0009 a0001c0001t0001g0077 a0001c0002t0001g0099 others(8): Show a0001c0001t0001g0009 a0001c0001t0001g0077 a0001c0002t0001g0099 a0001c0002t0001g0166 a0002c0003t0001g0028 a0002c0003t0001g0189 a0003c0004t0001g0046 a0003c0004t0001g0067 a0003c0004t0001g0073 a0004c0006t0001g0049 a0004c0006t0001g0057	11	39	0.2821	26	c.382 others(47): Show c.3824-26081_3824-26056dupATATATATATATATATATATATAT AT	TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL7_chr1_83860024_84004132	83892952	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0175 a0001c0001t0009g0176 a0001c0001t0009g0178 a0001c0001t0009g0175 a0001c0001t0009g0176 a0001c0001t0009g0178	3	177	0.0169	26	c.220 others(45): Show c.2209-2472_2209-2471insCTTTCTTTCTTTCTTTCTTTCTTTCT	TTLL7	ENSG00000137941.17	transcript	ENST00000260505.13	protein_coding	18/20			chr1	TogoVar
TTLL9_chr20_31865634_31950000	31873821	G G	GAAGAAAG others(19): Show GAAGAAAGAAAGAAAGAAAGAAAAAGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02258.hp1 HG02622.hp2 HG01261.hp2 HG02258.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0134 a0001c0001t0003g0136 a0001c0001t0003g0137	3	130	0.0231	26	c.69+ others(41): Show c.69+2648_69+2649insAAGAAAGAAAGAAAGAAAGAAAGAAA	TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL9_chr20_31865634_31950000	31890154	C C	CTTCCTTC others(19): Show CTTCCTTCCTTCTTCTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	39	0.0256	26	c.113 others(43): Show c.113+2918_113+2919insCTTCCTTCTTCTTCTTTCTTTCTTTC	TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL9_chr20_31865634_31950000	31890201	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0256 a0001c0001t0003g0256	1	260	0.0038	26	c.113 others(43): Show c.113+2963_113+2964insTTCTTTCTTTCTTTCTTTCTTTCTTT	TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTN_chr2_178520989_178812423	178677335	C C	CATATACA others(19): Show CATATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0010 a0010	a0010c0096 a0010c0096	a0010c0096t0007 a0010c0096t0007	a0010c0096t0007g0166 a0010c0096t0007g0166	1	74	0.0135	26	c.342 others(43): Show c.34292-49_34292-48insATATATATATATATATATATGTATAT	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	146/362			chr2	TogoVar
TTN_chr2_178520989_178812423	178677335	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02895.hp1 HG02895.hp2 others(4): Show HG02630.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG03139.hp2 HG03540.hp2 NA19005.hp2	a0002 a0021 a0087 others(4): Show a0002 a0021 a0087 a0104 a0106 a0117 a0127	a0002c0023 a0021c0017 a0087c0113 others(4): Show a0002c0023 a0021c0017 a0087c0113 a0104c0033 a0106c0108 a0117c0086 a0127c0116	a0002c0023t0001 a0021c0017t0001 a0087c0113t0001 others(4): Show a0002c0023t0001 a0021c0017t0001 a0087c0113t0001 a0104c0033t0008 a0106c0108t0001 a0117c0086t0004 a0127c0116t0001	a0002c0023t0001g0067 a0021c0017t0001g0191 a0087c0113t0001g0183 others(4): Show a0002c0023t0001g0067 a0021c0017t0001g0191 a0087c0113t0001g0183 a0104c0033t0008g0239 a0106c0108t0001g0145 a0117c0086t0004g0004 a0127c0116t0001g0241	7	80	0.0875	26	c.342 others(43): Show c.34292-74_34292-49dupATATATATATATATATATATATATAT	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	146/362			chr2	TogoVar
TTN_chr2_178520989_178812423	178757162	A A	AAGTAATA others(19): Show AAGTAATACTGTACTTGCTTTAAGTAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03195.hp2 NA18906.hp2 HG02970.hp1 HG03195.hp2 NA18906.hp2	a0009 a0009	a0009c0005 a0009c0005	a0009c0005t0001 a0009c0005t0001	a0009c0005t0001g0140 a0009c0005t0001g0141 a0009c0005t0001g0142 a0009c0005t0001g0140 a0009c0005t0001g0141 a0009c0005t0001g0142	3	240	0.0125	26	c.106 others(45): Show c.10679-366_10679-365insGTACTTAAAGCAAGTACAGTATTACT	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	45/362			chr2	TogoVar
TTN_chr2_178739405_178812423	178757162	A A	AAGTAATA others(19): Show AAGTAATACTGTACTTGCTTTAAGTAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03195.hp2 NA18906.hp1 HG02970.hp1 HG03195.hp2 NA18906.hp1	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0001 a0017c0019t0001	a0017c0019t0001g0009 a0017c0019t0001g0009	3	368	0.0082	26	c.103 others(47): Show c.10303+1821_10303+1822insGTACTTAAAGCAAGTACAGTATTA CT	TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45			chr2	TogoVar
TTPA_chr8_63054488_63091053	63059020	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTGTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0044 a0001c0001t0005g0044	1	114	0.0088	26	c.22 others(37): Show c.2231_*2232insAAAAAAAAAAAAACAAAAAAAAAAAA	TTPA	ENSG00000137561.5	transcript	ENST00000260116.5	protein_coding		467		chr8	TogoVar
TTYH1_chr19_54410464_54441904	54411184	G G	GAGAGAGA others(19): Show GAGAGAGAGACAAAGACAGAGAGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01069.hp1 HG01071.hp2 HG00280.hp1 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	3	328	0.0091	26	c.-43 others(37): Show c.-4369_-4368insAGAGAGAGACAAAGACAGAGAGAGAC	TTYH1	ENSG00000167614.14	transcript	ENST00000376530.8	protein_coding		4279		chr19	TogoVar
TUBA1B_chr12_49122782_49136395	49123757	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01106.hp2 HG02818.hp1 others(3): Show HG00639.hp2 HG01106.hp2 HG02818.hp1 HG03453.hp2 NA18963.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009	6	165	0.0364	26	c.42 others(37): Show c.4200_*4201insAAAAAAAAAAAAAAAAAAAAAAAAAA	TUBA1B	ENSG00000123416.15	transcript	ENST00000336023.9	protein_coding		4024		chr12	TogoVar
TUBA3C_chr13_19168772_19186824	19186697	A A	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0011 a0002c0003t0001g0011	1	44	0.0227	26	c.-49 others(37): Show c.-4951_-4950insACACACACACACACACACACACACAC	TUBA3C	ENSG00000198033.13	transcript	ENST00000400113.8	protein_coding		4874		chr13	TogoVar
TUBB4A_chr19_6489319_6507309	6503398	A A	AAGTGATA others(19): Show AAGTGATAGGATATAATCTTTCGGACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0063	1	409	0.0024	26	c.-11 others(37): Show c.-1187_-1186insGGTCCGAAAGATTATATCCTATCACT	TUBB4A	ENSG00000104833.12	transcript	ENST00000264071.7	protein_coding		1090		chr19	TogoVar
TUBGCP3_chr13_112480011_112593153	112485420	A A	AAGAATAA others(19): Show AAGAATAAATATGTGTAAAGGTAATGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0177 a0001c0001t0011g0177	1	310	0.0032	26	c.54 others(35): Show c.547_*572dupGCATTACCTTTACACATATTTATTCT	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	22/22	572		chr13	TogoVar
TUBGCP4_chr15_43366101_43414771	43386377	A A	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0222 a0001c0001t0005g0222	1	149	0.0067	26	c.101 others(41): Show c.1014+48_1014+49insATATATATATATTTTTTTTTTTTTTT	TUBGCP4	ENSG00000137822.13	transcript	ENST00000564079.6	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23016969	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00738.hp2 others(36): Show HG00140.hp2 HG00544.hp2 HG00738.hp2 HG00741.hp1 HG01099.hp2 HG01167.hp1 HG01256.hp2 HG01258.hp2 HG02015.hp1 HG02040.hp2 HG02083.hp1 HG02698.hp2 HG03486.hp2 HG03669.hp1 HG03710.hp2 HG03942.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp1 NA18947.hp2 NA18955.hp1 NA18966.hp1 NA18967.hp2 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18985.hp1 NA18987.hp2 NA18993.hp2 NA18994.hp1 NA19070.hp1 NA19076.hp1 NA19077.hp1 NA19078.hp2 NA19081.hp1 NA19085.hp2 NA19091.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0003c0006 a0005c0012	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0001c0007t0001 a0003c0006t0001 a0005c0012t0002	a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0048 others(31): Show a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0249 a0001c0002t0002g0003 a0001c0002t0002g0016 a0001c0002t0002g0032 a0001c0002t0002g0077 a0001c0002t0002g0082 a0001c0002t0002g0086 a0001c0002t0002g0092 a0001c0002t0002g0099 a0001c0002t0002g0102 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0123 a0001c0002t0002g0125 a0001c0002t0002g0251 a0001c0003t0001g0130 a0001c0007t0001g0056 a0003c0006t0001g0044 a0003c0006t0001g0065 a0005c0012t0002g0103	39	202	0.1931	26	c.175 others(43): Show c.1756+803_1756+804insATATATATATATATATATATATATAT	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding	13/22			chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23016969	G G	GATATGTA others(19): Show GATATGTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0264 a0002c0004t0002g0264	1	164	0.0061	26	c.175 others(43): Show c.1756+803_1756+804insATATATATATATATATATATACATAT	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding	13/22			chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23016986	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	328	0.0030	26	c.175 others(43): Show c.1756+786_1756+787insCATATATATATATATATATATATATA	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding	13/22			chr15	TogoVar
TUB_chr11_8076211_8111243	8108486	A A	AGAACCAA others(19): Show AGAACCAATGCTGTTTTACACACACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0012	1	454	0.0022	26	c.68 others(37): Show c.6867_*6868insGAACCAATGCTGTTTTACACACACTG	TUB	ENSG00000166402.9	transcript	ENST00000299506.3	protein_coding		2244		chr11	TogoVar
TUFT1_chr1_151535309_151588583	151566708	T T	TATATACA others(19): Show TATATACATGATAAATATATGTATATA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	364	0.0027	26	c.480 others(41): Show c.480+490_480+515dupATAAATATATGTATATAATATACATG	TUFT1	ENSG00000143367.17	transcript	ENST00000368849.8	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
TULP2_chr19_48875967_48903744	48887311	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01496.hp1 NA18747.hp2 others(1): Show HG01258.hp1 HG01496.hp1 NA18747.hp2 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0170 a0001c0001t0001g0179 others(1): Show a0001c0001t0001g0125 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0227	4	13	0.3077	26	c.948 others(41): Show c.948+613_948+638dupAAAAAAAAAAAAAAAAAAAAAAAAAA	TULP2	ENSG00000104804.9	transcript	ENST00000221399.8	protein_coding	8/12			chr19	TogoVar
TULP3_chr12_2885891_2946138	2911664	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0315 a0001c0001t0014g0315	1	6	0.1667	26	c.93+ others(41): Show c.93+2102_93+2127dupTTTTTTTTTTTTTTTTTTTTTTTTTT	TULP3	ENSG00000078246.17	transcript	ENST00000448120.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
TULP4_chr6_158307465_158516828	158331733	G G	GTGTATAT others(19): Show GTGTATATATACACGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0207 a0001c0001t0006g0207	1	123	0.0081	26	c.252 others(45): Show c.252+17466_252+17467insGTATATATACACGTATATATATATAT	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
TULP4_chr6_158307465_158516828	158332200	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0006 a0006	a0006c0028 a0006c0028	a0006c0028t0023 a0006c0028t0023	a0006c0028t0023g0229 a0006c0028t0023g0229	1	236	0.0042	26	c.252 others(45): Show c.252+17933_252+17934insAATATATATATATATATATATATATA	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
TULP4_chr6_158307465_158516828	158342947	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0262 a0001c0003t0004g0262	1	7	0.1429	26	c.252 others(45): Show c.252+28693_252+28718dupGTGTGTGTGTGTGTGTGTGTGTGTGT	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
TULP4_chr6_158307465_158516828	158348173	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0042 a0001c0003t0042	a0001c0003t0042g0238 a0001c0003t0042g0238	1	29	0.0345	26	c.252 others(45): Show c.252+33920_252+33921insTTTTTTTTTTTTTTTTTTTTTTTTTT	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
TULP4_chr6_158307465_158516828	158385842	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18964.hp1 HG00738.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0080 a0001c0001t0008 a0001c0001t0080	a0001c0001t0008g0078 a0001c0001t0080g0102 a0001c0001t0008g0078 a0001c0001t0080g0102	2	93	0.0215	26	c.253 others(45): Show c.253-27203_253-27202insTTTTTTTTTTTTTTTTTTTTTTTTTT	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
TULP4_chr6_158307465_158516828	158453485	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0137 a0001c0001t0031g0137	1	92	0.0109	26	c.859 others(43): Show c.859+1241_859+1242insAAAAAAAAAAAAAAAAAAAAAAAAAA	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
TUNAR_chr14_95871832_95930571	95872180	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	177	0.0056	26	c.-49 others(37): Show c.-4986_-4985insAAAAAAAAAAAAAAAAAAAAAAAAAA	TUNAR	ENSG00000250366.4	transcript	ENST00000503525.3	protein_coding		4651		chr14	TogoVar
TUSC3_chr8_15535263_15771638	15539345	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	157	0.0064	26	c.-10 others(37): Show c.-1086_-1085insTTTTTTTTTTTTTTTTTTTTTTTTTT	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding		917		chr8	TogoVar
TUSC3_chr8_15535263_15771638	15570954	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02071.hp1 HG03927.hp2 HG01358.hp2 HG02071.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0005g0310 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0005g0310	3	55	0.0545	26	c.138 others(45): Show c.138+30406_138+30407insTTTTTTTTTTTTTTTTTTTTTTTTTT	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TUSC3_chr8_15535263_15771638	15617120	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03927.hp2 NA18959.hp1 others(2): Show HG02896.hp1 HG03927.hp2 NA18959.hp1 NA18994.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0015	a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0002g0025 others(2): Show a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0002g0025 a0001c0001t0004g0220 a0001c0001t0015g0127	5	97	0.0515	26	c.139 others(43): Show c.139-5947_139-5946insGTGTGTGTGTGTGTGTGTGTGTGTGT	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TUSC3_chr8_15535263_15771638	15648725	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0136 a0001c0001t0008g0136	1	38	0.0263	26	c.309 others(43): Show c.309-1966_309-1941dupAAAAAAAAAAAAAAAAAAAAAAAAAA	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TUT4_chr1_52418275_52558092	52444899	A A	ATATATAT others(19): Show ATATATATATGTATATACATGTATGTG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0066 a0001c0001t0001g0075	2	248	0.0081	26	c.382 others(43): Show c.3822+862_3822+887dupCACATACATGTATATACATATATATA	TUT4	ENSG00000134744.14	transcript	ENST00000257177.9	protein_coding	24/29			chr1	TogoVar
TVP23A_chr16_10761675_10823794	10803268	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01975.hp2 HG02056.hp1 others(20): Show HG00423.hp2 HG01975.hp2 HG02056.hp1 HG02083.hp1 HG02165.hp2 HG02630.hp1 NA18612.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp1 NA18950.hp1 NA18956.hp2 NA18966.hp2 NA18972.hp1 NA18978.hp1 NA18983.hp1 NA18990.hp1 NA18991.hp2 NA19000.hp2 NA19056.hp2 NA19067.hp1 NA19074.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0035 a0001c0001t0039	a0001c0001t0001g0048 a0001c0001t0001g0312 a0001c0001t0001g0330 others(20): Show a0001c0001t0001g0048 a0001c0001t0001g0312 a0001c0001t0001g0330 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0075 a0001c0001t0002g0110 a0001c0001t0002g0372 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0109 a0001c0001t0003g0196 a0001c0001t0004g0064 a0001c0001t0004g0074 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0073 a0001c0001t0005g0087 a0001c0001t0008g0367 a0001c0001t0035g0056 a0001c0001t0039g0065	23	384	0.0599	26	c.89+ others(43): Show c.89+14834_89+14835insGCACACACACACACACACACACACAC	TVP23A	ENSG00000166676.17	transcript	ENST00000299866.13	protein_coding	2/7			chr16	TogoVar
TWIST2_chr2_238843085_238915534	238870309	C C	CTACACAC others(19): Show CTACACACACCACACACCCCACACACA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0287 a0001c0001t0002g0287	1	330	0.0030	26	c.35 others(45): Show c.35+21576_*35+21577insTACACACACCACACACCCCACACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870316	C C	CACCACAC others(19): Show CACCACACAAACCACACACACCACACA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03688.hp1 HG03654.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0259 a0001c0001t0002g0253 a0001c0001t0001g0259 a0001c0001t0002g0253	2	230	0.0087	26	c.35 others(45): Show c.35+21583_*35+21584insACCACACAAACCACACACACCACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870696	A A	ACACAAAC others(19): Show ACACAAACCACACACCCCACACACACC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	237	0.0042	26	c.35 others(45): Show c.35+21963_*35+21964insCACAAACCACACACCCCACACACACC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TXLNG_chrX_16781466_16849519	16782389	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18965.hp1 NA18972.hp1 others(1): Show NA18951.hp2 NA18965.hp1 NA18972.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0240 others(1): Show a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0240 a0001c0001t0024g0137	4	13	0.3077	26	c.-40 others(37): Show c.-4099_-4098insATATATATATATATATATATATATAT	TXLNG	ENSG00000086712.13	transcript	ENST00000380122.10	protein_coding		4076		chrX	TogoVar
TXLNG_chrX_16781466_16849519	16830830	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01258.hp1 HG02109.hp2 others(3): Show HG01175.hp2 HG01258.hp1 HG02109.hp2 HG02451.hp1 NA18959.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0005t0006	a0001c0001t0001g0169 a0001c0001t0001g0190 a0001c0001t0004g0164 others(3): Show a0001c0001t0001g0169 a0001c0001t0001g0190 a0001c0001t0004g0164 a0001c0001t0006g0065 a0001c0002t0001g0191 a0001c0005t0006g0028	6	16	0.3750	26	c.864 others(43): Show c.864+1091_864+1116dupGTGTGTGTGTGTGTGTGTGTGTGTGT	TXLNG	ENSG00000086712.13	transcript	ENST00000380122.10	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
TXNDC16_chr14_52425596_52557505	52493216	T T	TATATATA others(19): Show TATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp2 HG03139.hp1 others(1): Show HG02451.hp2 HG02922.hp2 HG03139.hp1 NA19240.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0140 a0003c0004t0004g0141 a0003c0004t0004g0142 others(1): Show a0003c0004t0004g0140 a0003c0004t0004g0141 a0003c0004t0004g0142 a0003c0004t0004g0143	4	141	0.0284	26	c.757 others(43): Show c.757-2212_757-2211insGTGTGTGTATATATATATATATATAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	9/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52529501	T T	TTATATAT others(19): Show TTATATATAATGCCAAATACTACTATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	185	0.0054	26	c.392 others(43): Show c.392+7217_392+7218insTATAGTAGTATTTGGCATTATATATA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC8_chr9_110298476_110342863	110299979	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 NA18940.hp2 HG02896.hp1 NA18940.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0133 a0002c0002t0001g0020 a0001c0001t0001g0133 a0002c0002t0001g0020	2	275	0.0073	26	c.37 others(37): Show c.3702_*3703insAATATATATATATATATATATATATA	TXNDC8	ENSG00000204193.12	transcript	ENST00000423740.7	protein_coding		3496		chr9	TogoVar
TXNDC9_chr2_99313982_99341333	99338922	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	2	51	0.0392	26	c.-27 others(37): Show c.-2717_-2716insTATATATATATATATATATATATACA	TXNDC9	ENSG00000115514.12	transcript	ENST00000264255.8	protein_coding		2590		chr2	TogoVar

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