Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TTLL8_chr22_50013575_50063298	50057640	T T	TGGGGGTC others(12): Show TGGGGGTCAGGTCTGGGTTG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0139 a0001c0015t0001g0139	1	120	0.0083	19	c.-39 others(34): Show c.-39+513_-39+514insCAACCCAGACCTGACCCCC	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	1/13			chr22	TogoVar
TTLL9_chr20_31865634_31950000	31887904	T T	TTCTCTTC others(12): Show TTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0146 a0001c0002t0015g0146	1	257	0.0039	19	c.113 others(34): Show c.113+666_113+667insCTCTTCTCTTCTCTTCTCT	TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL9_chr20_31865634_31950000	31890150	C C	CTTCTTCT others(12): Show CTTCTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	188	0.0053	19	c.113 others(36): Show c.113+2914_113+2915insTTCTTTCTTTCTTTCTTTC	TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL9_chr20_31865634_31950000	31932471	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02559.hp1 others(5): Show HG02055.hp2 HG02257.hp2 HG02559.hp1 HG02698.hp2 HG03471.hp2 HG04115.hp1 NA18945.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0011 a0001c0001t0003g0067 a0001c0001t0003g0140 others(5): Show a0001c0001t0003g0011 a0001c0001t0003g0067 a0001c0001t0003g0140 a0001c0001t0003g0194 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0233 a0001c0001t0012g0120	8	160	0.0500	19	c.749 others(36): Show c.749-1315_749-1314insAAAAAAAAAAAAAAAAAAA	TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTN_chr2_178520989_178812423	178686113	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02004.hp1 HG02155.hp2 others(3): Show HG01496.hp1 HG02004.hp1 HG02155.hp2 HG02273.hp1 HG02818.hp2 HG02896.hp1	a0003 a0022 a0062 others(2): Show a0003 a0022 a0062 a0068 a0103	a0003c0004 a0022c0010 a0062c0102 others(2): Show a0003c0004 a0022c0010 a0062c0102 a0068c0095 a0103c0179	a0003c0004t0001 a0022c0010t0001 a0062c0102t0001 others(2): Show a0003c0004t0001 a0022c0010t0001 a0062c0102t0001 a0068c0095t0001 a0103c0179t0001	a0003c0004t0001g0172 a0003c0004t0001g0173 a0022c0010t0001g0237 others(3): Show a0003c0004t0001g0172 a0003c0004t0001g0173 a0022c0010t0001g0237 a0062c0102t0001g0176 a0068c0095t0001g0196 a0103c0179t0001g0043	6	69	0.0870	19	c.323 others(38): Show c.32312-534_32312-516dupAAAAAAAAAAAAAAAAAAA	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	127/362			chr2	TogoVar
TTYH1_chr19_54410464_54441904	54414277	T T	TCATCATC others(12): Show TCATCATCATCACCAATCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	142	0.0070	19	c.-12 others(30): Show c.-1276_-1275insCATCATCATCACCAATCAC	TTYH1	ENSG00000167614.14	transcript	ENST00000376530.8	protein_coding		1186		chr19	TogoVar
TTYH2_chr17_74208571_74267020	74219387	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02896.hp2 HG02970.hp1 others(1): Show HG01106.hp1 HG02896.hp2 HG02970.hp1 HG03139.hp1	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0001 a0001c0014 a0005c0020 others(1): Show a0001c0001 a0001c0014 a0005c0020 a0009c0013	a0001c0001t0001 a0001c0014t0001 a0005c0020t0001 others(1): Show a0001c0001t0001 a0001c0014t0001 a0005c0020t0001 a0009c0013t0004	a0001c0001t0001g0151 a0001c0014t0001g0152 a0005c0020t0001g0184 others(1): Show a0001c0001t0001g0151 a0001c0014t0001g0152 a0005c0020t0001g0184 a0009c0013t0004g0290	4	280	0.0143	19	c.130 others(36): Show c.130-3082_130-3081insAAAAAAAAAAAAAAAAAAA	TTYH2	ENSG00000141540.11	transcript	ENST00000269346.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
TTYH3_chr7_2626986_2669802	2648935	G G	GTGGGGCC others(12): Show GTGGGGCCCGCAGTGGGGTA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0178 a0001c0001t0015g0178	1	164	0.0061	19	c.723 others(34): Show c.723-614_723-613insATGGGGCCCGCAGTGGGGT	TTYH3	ENSG00000136295.16	transcript	ENST00000258796.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
TTYH3_chr7_2626986_2669802	2648973	G G	GTGGGGCC others(12): Show GTGGGGCCCGCAGTGGGGTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	157	0.0064	19	c.723 others(34): Show c.723-587_723-586insCGCAGTGGGGTTTGGGGCC	TTYH3	ENSG00000136295.16	transcript	ENST00000258796.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
TUBA1B_chr12_49122782_49136395	49135253	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	51	0.0196	19	c.-39 others(30): Show c.-3954_-3953insAAAAAAAAATATATATATA	TUBA1B	ENSG00000123416.15	transcript	ENST00000336023.9	protein_coding		3859		chr12	TogoVar
TUBA1B_chr12_49122782_49136395	49135253	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	51	0.0196	19	c.-39 others(30): Show c.-3954_-3953insAAAAAAAAAAATATATATA	TUBA1B	ENSG00000123416.15	transcript	ENST00000336023.9	protein_coding		3859		chr12	TogoVar
TUBA3C_chr13_19168772_19186824	19186732	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0011 a0002c0003t0001g0011	1	446	0.0022	19	c.-49 others(30): Show c.-4986_-4985insACACACACACACACACACA	TUBA3C	ENSG00000198033.13	transcript	ENST00000400113.8	protein_coding		4909		chr13	TogoVar
TUBB4A_chr19_6489319_6507309	6497024	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0015 a0001c0002t0010g0015	1	202	0.0050	19	c.278 others(34): Show c.278-804_278-803insATATATATATATATTTTTT	TUBB4A	ENSG00000104833.12	transcript	ENST00000264071.7	protein_coding	3/3			chr19	TogoVar
TUBB4A_chr19_6489319_6507309	6497024	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	202	0.0050	19	c.278 others(34): Show c.278-804_278-803insATATATATATATATATATT	TUBB4A	ENSG00000104833.12	transcript	ENST00000264071.7	protein_coding	3/3			chr19	TogoVar
TUBGCP2_chr10_133273635_133313872	133291817	A A	ATGTCCCC others(12): Show ATGTCCCCCATGTCCCTCCG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0043 a0001c0002t0003g0043	1	265	0.0038	19	c.121 others(36): Show c.1214+681_1214+682insCGGAGGGACATGGGGGACA	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291912	A A	ATGTCCCC others(12): Show ATGTCCCCCATGTCCCTCCG	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0054 a0001c0002t0003g0054	1	260	0.0038	19	c.121 others(36): Show c.1214+586_1214+587insCGGAGGGACATGGGGGACA	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291912	A A	ATGTCCCT others(12): Show ATGTCCCTCCGTGTCCCCCG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	260	0.0038	19	c.121 others(36): Show c.1214+586_1214+587insCGGGGGACACGGAGGGACA	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133292284	G G	GTGTCCCT others(12): Show GTGTCCCTCCGTGTCCCCCA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02129.hp2 NA18939.hp2 others(2): Show HG02004.hp2 HG02129.hp2 NA18939.hp2 NA18969.hp1 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0004t0001 a0001c0002t0003 a0001c0004t0001	a0001c0002t0003g0043 a0001c0002t0003g0062 a0001c0002t0003g0065 others(2): Show a0001c0002t0003g0043 a0001c0002t0003g0062 a0001c0002t0003g0065 a0001c0002t0003g0075 a0001c0004t0001g0066	5	254	0.0197	19	c.121 others(36): Show c.1214+214_1214+215insTGGGGGACACGGAGGGACA	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133292293	A A	ATGTCCCT others(12): Show ATGTCCCTCCGTGTCCCCCG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0103 a0001c0001t0004g0103	1	239	0.0042	19	c.121 others(36): Show c.1214+205_1214+206insCGGGGGACACGGAGGGACA	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133292369	G G	GTGTCCCT others(12): Show GTGTCCCTCCGTGTCCCCCA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0058 a0001c0007t0003g0058	1	258	0.0039	19	c.121 others(36): Show c.1214+129_1214+130insTGGGGGACACGGAGGGACA	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP4_chr15_43366101_43414771	43386377	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0220 a0001c0001t0007g0220	1	149	0.0067	19	c.101 others(34): Show c.1014+48_1014+49insATATATATATTTTTTTTTT	TUBGCP4	ENSG00000137822.13	transcript	ENST00000564079.6	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
TUB_chr11_8076211_8111243	8104977	C C	CTTAAATA others(12): Show CTTAAATAAACTTAGCATTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp2 HG02886.hp1 HG02976.hp1 others(3): Show HG02723.hp2 HG02886.hp1 HG02976.hp1 HG03098.hp1 HG03453.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0031 a0001c0001t0051 a0001c0001t0080 others(2): Show a0001c0001t0031 a0001c0001t0051 a0001c0001t0080 a0001c0001t0081 a0001c0004t0053	a0001c0001t0031g0302 a0001c0001t0031g0304 a0001c0001t0051g0163 others(3): Show a0001c0001t0031g0302 a0001c0001t0031g0304 a0001c0001t0051g0163 a0001c0001t0080g0208 a0001c0001t0081g0061 a0001c0004t0053g0303	6	454	0.0132	19	c.33 others(30): Show c.3359_*3377dupTTAAATAAACTTAGCATTT	TUB	ENSG00000166402.9	transcript	ENST00000299506.3	protein_coding	12/12	3378	INFO_REALIGN_3_PRIME	chr11	TogoVar
TULP2_chr19_48875967_48903744	48887311	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG06807.hp1 HG02602.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0225 a0001c0001t0001g0182 a0001c0001t0001g0225	2	11	0.1818	19	c.948 others(34): Show c.948+620_948+638dupAAAAAAAAAAAAAAAAAAA	TULP2	ENSG00000104804.9	transcript	ENST00000221399.8	protein_coding	8/12			chr19	TogoVar
TULP3_chr12_2885891_2946138	2894538	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0358 a0001c0002t0010g0358	1	27	0.0370	19	c.41+ others(34): Show c.41+3550_41+3551insCACACACACACACACACAC	TULP3	ENSG00000078246.17	transcript	ENST00000448120.7	protein_coding	1/10			chr12	TogoVar
TULP3_chr12_2885891_2946138	2937200	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0140 a0002c0003t0006g0140	1	6	0.1667	19	c.925 others(34): Show c.925-418_925-400dupTTTTTTTTTTTTTTTTTTT	TULP3	ENSG00000078246.17	transcript	ENST00000448120.7	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
TULP4_chr6_158307465_158516828	158385842	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01257.hp2 HG01258.hp2 others(11): Show HG00280.hp1 HG01257.hp2 HG01258.hp2 HG01516.hp2 HG01884.hp1 HG01978.hp1 HG02004.hp2 HG02148.hp1 HG02280.hp2 HG03492.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 NA18950.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(2): Show a0001c0001 a0001c0004 a0001c0007 a0002c0010 a0002c0043	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0079 a0001c0004t0009 a0001c0004t0019 a0001c0007t0019 a0002c0010t0076 a0002c0043t0013	a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0097 others(11): Show a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0097 a0001c0001t0002g0162 a0001c0001t0005g0122 a0001c0001t0005g0173 a0001c0001t0008g0106 a0001c0001t0079g0079 a0001c0004t0009g0108 a0001c0004t0019g0107 a0001c0004t0019g0109 a0001c0007t0019g0091 a0002c0010t0076g0136 a0002c0043t0013g0141	14	105	0.1333	19	c.253 others(38): Show c.253-27221_253-27203dupTTTTTTTTTTTTTTTTTTT	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(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0160 a0001c0006t0009g0160	1	92	0.0109	19	c.859 others(36): Show c.859+1223_859+1241dupAAAAAAAAAAAAAAAAAAA	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
TUSC3_chr8_15535263_15771638	15539345	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 NA18969.hp2 NA18980.hp1 HG02015.hp2 NA18969.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0036 a0001c0001t0001 a0001c0001t0036	a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0036g0185 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0036g0185	3	159	0.0189	19	c.-10 others(30): Show c.-1086_-1085insTTTTTTTTTTTTTTTTTTT	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding		917		chr8	TogoVar
TUSC3_chr8_15535263_15771638	15555276	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	60	0.0167	19	c.138 others(38): Show c.138+14725_138+14743dupTTTTTTTTTTTTTTTTTTT	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TUSC3_chr8_15535263_15771638	15563685	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19043.hp2 HG02809.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0107 a0001c0001t0007g0108 a0001c0001t0007g0107 a0001c0001t0007g0108	2	138	0.0145	19	c.138 others(38): Show c.138+23119_138+23137dupAAAAAAAAAAAAAAAAAAA	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TUSC3_chr8_15535263_15771638	15570954	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG00642.hp1 others(40): Show HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG01070.hp1 HG01074.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02257.hp1 HG02486.hp1 HG02486.hp2 HG03017.hp2 HG03491.hp1 HG03492.hp1 HG03704.hp1 NA18941.hp2 NA18959.hp1 NA18964.hp1 NA18984.hp2 NA18995.hp2 NA19006.hp1 NA19058.hp2 NA19064.hp2 NA19079.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0022 a0001c0001t0024	a0001c0001t0001g0001 a0001c0001t0001g0188 a0001c0001t0001g0261 others(39): Show a0001c0001t0001g0001 a0001c0001t0001g0188 a0001c0001t0001g0261 a0001c0001t0001g0288 a0001c0001t0001g0299 a0001c0001t0001g0309 a0001c0001t0001g0321 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0002g0025 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0312 a0001c0001t0002g0315 a0001c0001t0002g0317 a0001c0001t0002g0331 a0001c0001t0002g0334 a0001c0001t0002g0341 a0001c0001t0002g0345 a0001c0001t0002g0349 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0087 a0001c0001t0003g0094 a0001c0001t0005g0209 a0001c0001t0005g0260 a0001c0001t0006g0350 a0001c0001t0007g0104 a0001c0001t0009g0045 a0001c0001t0022g0358 a0001c0001t0024g0352	43	95	0.4526	19	c.138 others(38): Show c.138+30388_138+30406dupTTTTTTTTTTTTTTTTTTT	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TUSC3_chr8_15535263_15771638	15617137	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0329 a0001c0001t0002g0329	1	353	0.0028	19	c.139 others(36): Show c.139-5943_139-5942insGTGTGTGTGTGTGTGTGTA	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10			chr8	TogoVar
TUSC3_chr8_15535263_15771638	15617139	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18989.hp2 NA19030.hp2 others(1): Show HG03579.hp2 NA18989.hp2 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0004t0004	a0001c0001t0002g0275 a0001c0001t0003g0089 a0001c0001t0013g0088 others(1): Show a0001c0001t0002g0275 a0001c0001t0003g0089 a0001c0001t0013g0088 a0001c0004t0004g0363	4	307	0.0130	19	c.139 others(36): Show c.139-5941_139-5940insGTGTGTGTGTGTGTGTATA	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10			chr8	TogoVar
TUSC3_chr8_15535263_15771638	15617139	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	304	0.0033	19	c.139 others(36): Show c.139-5941_139-5940insGTGTGTGTGTGTGTGTGTA	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10			chr8	TogoVar
TUSC3_chr8_15535263_15771638	15648725	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0135 a0001c0001t0008g0135	1	38	0.0263	19	c.309 others(36): Show c.309-1959_309-1941dupAAAAAAAAAAAAAAAAAAA	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TUSC3_chr8_15535263_15771638	15738827	C C	CTTTTTTT others(12): Show CTTTTTTTTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(71): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00609.hp1 HG00639.hp1 HG01070.hp1 HG01081.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01952.hp2 HG01978.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02698.hp1 HG03225.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03704.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18964.hp1 NA18967.hp1 NA18971.hp2 NA18973.hp2 NA18983.hp1 NA18985.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA19004.hp1 NA19005.hp1 NA19012.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp2 NA19074.hp1 NA19080.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0020 a0001c0001t0024 a0001c0006t0002	a0001c0001t0001g0001 a0001c0001t0001g0323 a0001c0001t0001g0326 others(70): Show a0001c0001t0001g0001 a0001c0001t0001g0323 a0001c0001t0001g0326 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0002g0025 a0001c0001t0002g0120 a0001c0001t0002g0141 a0001c0001t0002g0180 a0001c0001t0002g0195 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0218 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0275 a0001c0001t0002g0278 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0311 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0322 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0002g0329 a0001c0001t0002g0331 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0005g0310 a0001c0001t0005g0313 a0001c0001t0005g0314 a0001c0001t0020g0344 a0001c0001t0024g0352 a0001c0001t0024g0353 a0001c0006t0002g0351	74	240	0.3083	19	c.863 others(36): Show c.863-4701_863-4700insCTTTCTTTTTTTTTTTTTT	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TVP23A_chr16_10761675_10823794	10770868	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0407 a0001c0001t0012g0407	1	165	0.0061	19	c.583 others(34): Show c.583-556_583-538dupTTTTTTTTTTTTTTTTTTT	TVP23A	ENSG00000166676.17	transcript	ENST00000299866.13	protein_coding	6/7			chr16	TogoVar
TWIST2_chr2_238843085_238915534	238870297	C C	CAAACCAC others(12): Show CAAACCACACACCCTACACA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	96	0.0104	19	c.35 others(38): Show c.35+21564_*35+21565insAAACCACACACCCTACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TWSG1_chr18_9329773_9407420	9344531	A A	ATGTGTAT others(12): Show ATGTGTATGTATGTTTTTTT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	101	0.0099	19	c.123 others(36): Show c.123+7180_123+7181insGTGTATGTATGTTTTTTTT	TWSG1	ENSG00000128791.12	transcript	ENST00000262120.10	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
TXK_chr4_48061393_48139250	48104532	T T	TATATATA others(12): Show TATATATAATATTATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02897.hp1 HG02559.hp1 HG02897.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0218 a0001c0008t0003g0227 a0001c0008t0003g0218 a0001c0008t0003g0227	2	186	0.0108	19	c.501 others(34): Show c.501+368_501+369insTATATATAATATTATATAT	TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14			chr4	TogoVar
TXLNA_chr1_32174675_32203285	32190472	A A	AATGACTG others(12): Show AATGACTGGGCCAGGCATCT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	352	0.0028	19	c.963 others(34): Show c.963+224_963+242dupATGACTGGGCCAGGCATCT	TXLNA	ENSG00000084652.16	transcript	ENST00000373610.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
TXN2_chr22_36462046_36486640	36483281	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG02572.hp2 HG02717.hp1 others(2): Show HG00280.hp1 HG02572.hp2 HG02717.hp1 NA19058.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0003g0024 a0001c0001t0001g0002 a0001c0001t0003g0024	5	133	0.0376	19	c.-17 others(30): Show c.-1719_-1718insAAAAAAAAAAAAAAAAAAA	TXN2	ENSG00000100348.10	transcript	ENST00000216185.7	protein_coding		1642		chr22	TogoVar
TXNDC15_chr5_134869371_134906635	134904246	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	243	0.0041	19	c.45 others(30): Show c.4561_*4562insAAAAAAAAAAAAAAAAAAA	TXNDC15	ENSG00000113621.15	transcript	ENST00000358387.9	protein_coding		2612		chr5	TogoVar
TXNDC16_chr14_52425596_52557505	52493215	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG03540.hp1 others(1): Show HG01168.hp1 HG01169.hp1 HG03540.hp1 NA18944.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0005 a0002c0003t0002 a0002c0003t0005	a0002c0003t0002g0212 a0002c0003t0002g0227 a0002c0003t0005g0055 others(1): Show a0002c0003t0002g0212 a0002c0003t0002g0227 a0002c0003t0005g0055 a0002c0003t0005g0056	4	201	0.0199	19	c.757 others(36): Show c.757-2211_757-2210insATATATATATATATATATA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	9/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52493216	T T	TATATATA others(12): Show TATATATATATATATATTAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA20905.hp2 HG00735.hp2 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0008 a0002c0003t0002g0009 a0002c0003t0002g0008 a0002c0003t0002g0009	2	139	0.0144	19	c.757 others(36): Show c.757-2212_757-2211insGTAATATATATATATATAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	9/20			chr14	TogoVar
TXNDC5_chr6_7876517_7915788	7893535	G G	GCCTGCCG others(12): Show GCCTGCCGGAGTCGGTCTGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02809.hp1 HG03516.hp1 HG01891.hp2 HG02809.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0239 a0001c0001t0002g0033 a0001c0001t0001g0239 a0001c0001t0002g0033	3	400	0.0075	19	c.616 others(36): Show c.616+1552_616+1570dupACAGACCGACTCCGGCAGG	TXNDC5	ENSG00000239264.9	transcript	ENST00000379757.9	protein_coding	4/9			chr6	TogoVar
TXNRD1_chr12_104210779_104355307	104252658	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0289 a0001c0002t0001g0289	1	285	0.0035	19	c.243 others(34): Show c.243+980_243+981insATATATATATATATATATA	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16			chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104252690	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0097 a0001c0003t0001g0097	1	111	0.0090	19	c.243 others(36): Show c.243+1013_243+1014insATATATATATATATATATT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104252691	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02647.hp1 HG00642.hp2 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0003 a0001c0004t0004 a0001c0003t0003 a0001c0004t0004	a0001c0003t0003g0113 a0001c0004t0004g0278 a0001c0003t0003g0113 a0001c0004t0004g0278	2	286	0.0070	19	c.243 others(36): Show c.243+1013_243+1014insATATATATATATATATATA	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16			chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104254644	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp2 HG02895.hp2 HG02572.hp2 HG02717.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0153 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0153 a0001c0002t0001g0156 a0001c0002t0001g0157	3	208	0.0144	19	c.243 others(36): Show c.243+2967_243+2968insAAATATATATATATATATA	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar

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