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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TTLL12_chr22_43161622_43192134	43187212	C C	CCCCGCCC others(38): Show CCCCGCCCCGCCCTCCTCCCAGCCCCCCGCCCCGCCCTCCTCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0082 a0001c0002t0005g0082	1	294	0.0034	45	c.-14 others(54): Show c.-144_-143insCTGGGAGGAGGGCGGGGCGGGGGGCTGGGAGGAGGG CGGGGCGGG		TTLL12	ENSG00000100304.13	transcript	ENST00000216129.7	protein_coding					79		chr22	TogoVar
TTLL1_chr22_43034516_43094391	43093031	C C	CTGGACCT others(38): Show CTGGACCTCAAGTGATCCTCCTTCCTCAGCCTCTAGAGCAATTAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0049 a0001c0001t0007g0049	1	358	0.0028	45	c.-38 others(56): Show c.-3845_-3844insCCTAATTGCTCTAGAGGCTGAGGAAGGAGGATCA CTTGAGGTCCA		TTLL1	ENSG00000100271.17	transcript	ENST00000266254.12	protein_coding					3641		chr22	TogoVar
TTLL5_chr14_75656246_75960079	75914033	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0193 a0002c0003t0002g0193	1	61	0.0164	45	c.382 others(66): Show c.3823+11810_3823+11811insAAAAAAAAAAAAAAAAATATATAT ATATATATATATATATATATA		TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31					INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL5_chr14_75656246_75960079	75914033	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03139.hp2 HG02809.hp1 HG03139.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0014 a0002c0003t0001g0028 a0002c0003t0001g0014 a0002c0003t0001g0028	2	62	0.0323	45	c.382 others(66): Show c.3823+11810_3823+11811insAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATATA		TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31					INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL5_chr14_75656246_75960079	75914033	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0156	1	61	0.0164	45	c.382 others(66): Show c.3823+11810_3823+11811insAAAAAAAAAAATATATATATATAT ATATATATATATATATATATA		TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31					INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL5_chr14_75656246_75960079	75914033	A A	AAAAAAAA others(38): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0184 a0001c0010t0004g0184	1	61	0.0164	45	c.382 others(66): Show c.3823+11810_3823+11811insAAAAAAAAATATATATATATATAT ATATATATATATATATATATA		TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31					INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL8_chr22_50013575_50063298	50028587	G G	GCCCTCGT others(38): Show GCCCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCCACATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0186 a0004c0004t0002g0186	1	221	0.0045	45	c.225 others(64): Show c.2251+1798_2251+1842dupTATGTGGGGGTCTTCAGGACGGTGTG ATGGGGGTCTTTACGAGGG		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13						chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028765	C C	CCTCGTAA others(38): Show CCTCGTAAAGACCCCCATCACACCATCCTAAAGACCCCCACACACA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	153	0.0065	45	c.225 others(64): Show c.2251+1664_2251+1665insTGTGTGTGGGGGTCTTTAGGATGGTG TGATGGGGGTCTTTACGAG		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13						chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029061	A A	ACCCCCAC others(38): Show ACCCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02602.hp1 HG01192.hp1 HG02602.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0155 a0003c0003t0002g0111 a0001c0001t0002g0155 a0003c0003t0002g0111	2	180	0.0111	45	c.225 others(64): Show c.2251+1368_2251+1369insGTCTTCAGGACGGTGTGATGGGGTCT TTACGAGTGTGTGTGGGGG		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13						chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029125	A A	ACCCCATC others(38): Show ACCCCATCACACCGTCCTAAAGACCCCCACATACCCTCGTAAAGAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0092 a0003c0003t0001g0092	1	221	0.0045	45	c.225 others(64): Show c.2251+1304_2251+1305insGTCTTTACGAGGGTATGTGGGGGTCT TTAGGACGGTGTGATGGGG		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13						chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029409	C C	CCACACAC others(38): Show CCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18959.hp2 NA19074.hp2 others(1): Show HG02027.hp1 NA18959.hp2 NA19074.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0001 a0001c0001t0001 a0001c0015t0001	a0001c0001t0001g0100 a0001c0001t0001g0168 a0001c0001t0001g0169 others(1): Show a0001c0001t0001g0100 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0015t0001g0139	4	208	0.0192	45	c.225 others(64): Show c.2251+1020_2251+1021insTGGGGTCTTCAGGACGGTGTGATGGG GTCTTTACGAGGGTGTGTG		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13						chr22	TogoVar
TTLL9_chr20_31865634_31950000	31887855	C C	CCTCTTCT others(38): Show CCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	17	0.0588	45	c.113 others(60): Show c.113+622_113+666dupCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTTCTCTTCTCTT		TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr20	TogoVar
TTYH3_chr7_2626986_2669802	2657422	A A	ATGGTGAT others(38): Show ATGGTGATGGTGATGATGGTGATGATGGTGGTGGTGGTTGTGGTGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp1 HG02896.hp1 others(2): Show HG02451.hp2 HG02615.hp1 HG02896.hp1 HG02897.hp1 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0008 a0002c0003t0008g0080 a0002c0003t0008g0081 others(1): Show a0002c0003t0008g0008 a0002c0003t0008g0080 a0002c0003t0008g0081 a0002c0003t0008g0085	5	400	0.0125	45	c.125 others(62): Show c.1251-850_1251-849insATGGTGATGATGGTGGTGGTGGTTGTGG TGGTGGTGATGGTGATG		TTYH3	ENSG00000136295.16	transcript	ENST00000258796.12	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr7	TogoVar
TUBB2B_chr6_3219277_3232653	3222198	C C	CCACCACC others(38): Show CCACCACCACCACCACCACTATCACCATCATCACCATCACCACCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	350	0.0029	45	c.25 others(56): Show c.2552_*2553insATGGTGGTGATGGTGATGATGGTGATAGTGGTGG TGGTGGTGGTG		TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding					2078		chr6	TogoVar
TUBGCP6_chr22_50212694_50250023	50239915	G G	GCCCGACA others(38): Show GCCCGACAGGTGTGATCTGGTTACTGGCACAGGGAGGGGAGCTCTT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA19082.hp1 NA18955.hp1 NA19082.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0247 a0001c0005t0001g0248 a0001c0005t0001g0247 a0001c0005t0001g0248	2	434	0.0046	45	c.905 others(60): Show c.905+288_905+289insAAGAGCTCCCCTCCCTGTGCCAGTAACCAG ATCACACCTGTCGGG		TUBGCP6	ENSG00000128159.12	transcript	ENST00000248846.10	protein_coding	2/24						chr22	TogoVar
TUBGCP6_chr22_50212694_50250023	50243632	A A	AAAAAAGA others(38): Show AAAAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03225.hp1 HG01884.hp1 HG03225.hp1	a0002 a0026 a0002 a0026	a0002c0040 a0026c0036 a0002c0040 a0026c0036	a0002c0040t0003 a0026c0036t0003 a0002c0040t0003 a0026c0036t0003	a0002c0040t0003g0339 a0026c0036t0003g0340 a0002c0040t0003g0339 a0026c0036t0003g0340	2	395	0.0051	45	c.741 others(58): Show c.741+86_741+87insCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTTTT		TUBGCP6	ENSG00000128159.12	transcript	ENST00000248846.10	protein_coding	1/24						chr22	TogoVar
TVP23C_chr17_15531980_15568483	15563602	A A	AGGGGCGG others(38): Show AGGGGCGGGGCGAGCGGGGGCGGGGCGAGCGGGGGCGGGGCGAGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03139.hp2 NA18522.hp1 HG03041.hp2 HG03139.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0005 a0001c0001t0006 a0002c0002t0005	a0001c0001t0006g0015 a0002c0002t0005g0022 a0002c0002t0005g0190 a0001c0001t0006g0015 a0002c0002t0005g0022 a0002c0002t0005g0190	3	43	0.0698	45	c.-15 others(54): Show c.-155_-154insCGCTCGCCCCGCCCCCGCTCGCCCCGCCCCCGCTCG CCCCGCCCC		TVP23C	ENSG00000175106.17	transcript	ENST00000518321.6	protein_coding					120		chr17	TogoVar
TWIST2_chr2_238843085_238915534	238870633	C C	CTACACAC others(38): Show CTACACACACCACACCCCACACACACCACACCCCATACACACCACA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	91	0.0110	45	c.35 others(64): Show c.35+21900_*35+21901insTACACACACCACACCCCACACACACC ACACCCCATACACACCACA		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1						chr2	TogoVar
TXNRD1_chr12_104210779_104355307	104254644	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0277 a0001c0004t0004g0277	1	206	0.0049	45	c.243 others(62): Show c.243+2967_243+2968insAAAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATA		TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
TYMS_chr18_652653_678578	667456	A A	ATGGTGAT others(38): Show ATGGTGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTGATGG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	421	0.0024	45	c.455 others(62): Show c.455-1614_455-1613insGTGATGGAGATGGTGATGGAGATGGAGA TGGTGATGGTGATGGTG		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
TYW5_chr2_199923913_199960491	199924046	T T	TGAGGGGG others(38): Show TGAGGGGGAGGTTTTGGGGAGGTGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	382	0.0026	45	c.90 others(56): Show c.9020_*9021insCCCCCCCCCCCCCCCCCCCCCCCACCTCCCCAAA ACCTCCCCCTC		TYW5	ENSG00000162971.11	transcript	ENST00000354611.9	protein_coding					4866		chr2	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0281 a0001c0003t0002g0281	1	46	0.0217	45	c.-42 others(64): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATATATATTTTTTTTTTTT		UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28						chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(38): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0182 a0001c0002t0001g0182	1	46	0.0217	45	c.-42 others(64): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATATATATATTTTTTTTTT		UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28						chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAT others(38): Show AAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0312 a0001c0003t0001g0312	1	46	0.0217	45	c.-42 others(64): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATATATATATATATTTTTT		UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28						chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAATAT others(38): Show AAAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18962.hp2 HG02451.hp1 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0259 a0001c0003t0001g0287 a0001c0002t0001g0259 a0001c0003t0001g0287	2	47	0.0426	45	c.-42 others(64): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATATATATATATATATTTT		UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28						chr9	TogoVar
UBE2U_chr1_64198623_64272368	64239112	A A	AAGAAGAA others(38): Show AAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0282 a0001c0008t0001g0282	1	323	0.0031	45	c.596 others(62): Show c.596-2532_596-2531insGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGAAG		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
UBN1_chr16_4842481_4887401	4858988	C C	CAGAACTT others(38): Show CAGAACTTGGAGCTGACAGTTTGTTTCCCATCTTCAGTATGATGAG	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	NA19063.hp2 NA19063.hp2	a0014 a0014	a0014c0013 a0014c0013	a0014c0013t0001 a0014c0013t0001	a0014c0013t0001g0252 a0014c0013t0001g0252	1	374	0.0027	45	c.433 others(55): Show c.433-36_441dupAGAACTTGGAGCTGACAGTTTGTTTCCCATCTTCA GTATGATGAG	p.Glu others(58): Show p.Glu147_Leu148insArgThrTrpSerTerGlnPheValSerHisLe uGlnTyrAspGlu	UBN1	ENSG00000118900.15	transcript	ENST00000262376.11	protein_coding	5/18	1211/6443	442/3405	148/1134		INFO_REALIGN_3_PRIME	chr16	TogoVar
UBXN7_chr3_196342662_196437427	196401823	G G	GAGAGAAG others(38): Show GAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03239.hp2 HG02155.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0049 a0001c0002t0006 a0001c0001t0049 a0001c0002t0006	a0001c0001t0049g0221 a0001c0002t0006g0178 a0001c0001t0049g0221 a0001c0002t0006g0178	2	73	0.0274	45	c.289 others(62): Show c.289+1128_289+1129insTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCTTCTCTTCTCT		UBXN7	ENSG00000163960.12	transcript	ENST00000296328.9	protein_coding	3/10						chr3	TogoVar
UCP2_chr11_73969672_73987843	73974851	A A	AGAAAGAG others(38): Show AGAAAGAGGGAAGGTGGTAGGTAAAGGAGCGGAAGGAAGAGGTGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(126): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00639.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03942.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18953.hp1 NA18956.hp2 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18985.hp1 NA18988.hp2 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19030.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19075.hp2 NA19077.hp1 NA19078.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19091.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0008	a0001c0001 a0002c0002 a0005c0008 others(2): Show a0001c0001 a0002c0002 a0005c0008 a0006c0009 a0008c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 a0002c0002t0019 a0005c0008t0002 a0006c0009t0003 a0008c0010t0003	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0013 others(17): Show a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0021 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0003g0004 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0020g0065 a0002c0002t0019g0064 a0005c0008t0002g0038 a0006c0009t0003g0069 a0008c0010t0003g0070	129	417	0.3094	45	c.11 others(54): Show c.111_*155dupCCCACCTCTTCCTTCCGCTCCTTTACCTACCACCTT CCCTCTTTC		UCP2	ENSG00000175567.11	transcript	ENST00000663595.2	protein_coding	8/8				155		chr11	TogoVar
UNC13C_chr15_53973441_54633605	54203829	T T	TATATACA others(38): Show TATATACACATTCTGTGTATATATACGTGTATGTATATACACATAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00639.hp2 others(17): Show HG00099.hp2 HG00423.hp1 HG00639.hp2 HG00738.hp2 HG01109.hp1 HG01891.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02602.hp1 HG02886.hp2 NA18612.hp1 NA18906.hp1 NA18947.hp2 NA18953.hp2 NA18993.hp1 NA19064.hp1 NA19064.hp2 NA19090.hp2 NA20129.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0015	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0012 a0001c0034 a0002c0015 a0002c0018 a0002c0019 a0002c0036 a0005c0027 a0015c0031	a0001c0001t0007 a0001c0001t0016 a0001c0001t0047 others(16): Show a0001c0001t0007 a0001c0001t0016 a0001c0001t0047 a0001c0002t0001 a0001c0002t0021 a0001c0002t0023 a0001c0003t0005 a0001c0003t0010 a0001c0003t0050 a0001c0004t0028 a0001c0005t0003 a0001c0012t0017 a0001c0034t0058 a0002c0015t0012 a0002c0018t0004 a0002c0019t0054 a0002c0036t0004 a0005c0027t0008 a0015c0031t0001	a0001c0001t0007g0028 a0001c0001t0016g0113 a0001c0001t0047g0131 others(17): Show a0001c0001t0007g0028 a0001c0001t0016g0113 a0001c0001t0047g0131 a0001c0002t0001g0005 a0001c0002t0021g0080 a0001c0002t0023g0098 a0001c0003t0005g0128 a0001c0003t0010g0026 a0001c0003t0050g0012 a0001c0004t0028g0148 a0001c0005t0003g0068 a0001c0005t0003g0097 a0001c0012t0017g0117 a0001c0034t0058g0149 a0002c0015t0012g0047 a0002c0018t0004g0048 a0002c0019t0054g0059 a0002c0036t0004g0010 a0005c0027t0008g0073 a0015c0031t0001g0051	20	91	0.2198	45	c.307 others(66): Show c.3072-31191_3072-31190insTCTGTGTATATATACGTGTATGTA TATACACATACATATACACAT		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32					INFO_REALIGN_3_PRIME	chr15	TogoVar
UPF3A_chr13_114276601_114310817	114281899	T T	TGGAGGGA others(38): Show TGGAGGGAGGGGAGGGAGGGGAGGGAGGGGAGGGAGGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18945.hp2 HG02071.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0049 a0001c0001t0001g0050	2	193	0.0104	45	c.207 others(58): Show c.207+82_207+83insAGGGAGGGGAGGGAGGGGAGGGAGGGGAGGGA GGGGAGGGAGGGG		UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr13	TogoVar
URB1_chr21_32306018_32398012	32332515	C C	CAAAAGAC others(38): Show CAAAAGACAAAAAAAAAAAAAAAAATCCCCAAACTCAAGTTAAAAA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0175 a0002c0004t0002g0175	1	336	0.0030	45	c.496 others(62): Show c.4960+801_4960+802insTTTTTAACTTGAGTTTGGGGATTTTTTT TTTTTTTTTTGTCTTTT		URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	30/38						chr21	TogoVar
URB1_chr21_32306018_32398012	32332522	C C	CAAAAAAA others(38): Show CAAAAAAAAAAAAAAATCCCCAAACTCAAGTTAAAAAAACAAGACA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02896.hp1 HG03486.hp1 HG02559.hp2 HG02896.hp1 HG03486.hp1	a0001 a0012 a0001 a0012	a0001c0002 a0001c0055 a0012c0023 a0001c0002 a0001c0055 a0012c0023	a0001c0002t0003 a0001c0055t0003 a0012c0023t0003 a0001c0002t0003 a0001c0055t0003 a0012c0023t0003	a0001c0002t0003g0282 a0001c0055t0003g0286 a0012c0023t0003g0287 a0001c0002t0003g0282 a0001c0055t0003g0286 a0012c0023t0003g0287	3	101	0.0297	45	c.496 others(62): Show c.4960+794_4960+795insTGTCTTGTTTTTTTAACTTGAGTTTGGG GATTTTTTTTTTTTTTT		URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	30/38						chr21	TogoVar
URB1_chr21_32306018_32398012	32332523	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAATCCCCAAACTCAAGTTAAAAAAACAAGAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	278	0.0036	45	c.496 others(62): Show c.4960+793_4960+794insGTCTTGTTTTTTTAACTTGAGTTTGGGG ATTTTTTTTTTTTTTTT		URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	30/38						chr21	TogoVar
URB1_chr21_32306018_32398012	32332524	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAATCCCCAAACTCAAGTTAAAAAAACAAAAGAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0015 a0003c0003t0015	a0003c0003t0015g0026 a0003c0003t0015g0026	1	335	0.0030	45	c.496 others(62): Show c.4960+748_4960+792dupGTCTTTTGTTTTTTTAACTTGAGTTTGG GGATTTTTTTTTTTTTT		URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	30/38						chr21	TogoVar
USH1C_chr11_17488900_17549416	17527070	A A	AGCTCCCC others(38): Show AGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0096	1	317	0.0032	45	c.497 others(58): Show c.497-31_497-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGG AGGGCGGGGGAGC		USH1C	ENSG00000006611.17	transcript	ENST00000005226.12	protein_coding	5/26						chr11	TogoVar
USH1C_chr11_17488900_17549416	17527112	A A	ACCTGCTC others(38): Show ACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01255.hp2 HG01433.hp1 others(3): Show HG00621.hp2 HG01255.hp2 HG01433.hp1 HG02015.hp1 HG02056.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0010 a0002c0036 a0002c0002 a0002c0010 a0002c0036	a0002c0002t0002 a0002c0002t0003 a0002c0010t0002 others(1): Show a0002c0002t0002 a0002c0002t0003 a0002c0010t0002 a0002c0036t0002	a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0003g0100 others(2): Show a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0003g0100 a0002c0010t0002g0048 a0002c0036t0002g0074	6	97	0.0619	45	c.496 others(58): Show c.496+66_497-73dupGCAGTACTCCATGACGGTGGGAGGGAGGGAGG GCGGGGGAGCAGG		USH1C	ENSG00000006611.17	transcript	ENST00000005226.12	protein_coding	5/26						chr11	TogoVar
USH2A_chr1_215617891_216428448	216231282	C C	CATTATAT others(38): Show CATTATATATATAATATATATATATAATATATATACAGAGAGACAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0034 a0034	a0034c0045 a0034c0045	a0034c0045t0006 a0034c0045t0006	a0034c0045t0006g0028 a0034c0045t0006g0028	1	72	0.0139	45	c.299 others(62): Show c.2993+670_2993+671insCTGTCTCTCTGTATATATATTATATATA TATATTATATATATAAT		USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	14/71						chr1	TogoVar
USP15_chr12_62255404_62421389	62257162	A A	ATGTGTGT others(38): Show ATGTGTGTGTATATGTATATATACACAATGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	241	0.0041	45	c.-32 others(56): Show c.-3253_-3252insTGTGTGTGTATATGTATATATACACAATGTGTGT GTGTGTGTGTG		USP15	ENSG00000135655.16	transcript	ENST00000280377.10	protein_coding					3241		chr12	TogoVar
USP50_chr15_50495562_50551666	50537891	G G	GAGGGAAG others(38): Show GAGGGAAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0371 a0001c0001t0001g0371	1	380	0.0026	45	c.803 others(60): Show c.803+817_803+818insTCCCTTCCCTTCCCTTCCCTTCCCTCCCCT CCCCTCCCCTTCCCT		USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	5/6						chr15	TogoVar
USP50_chr15_50495562_50551666	50537896	G G	GAGGGGAG others(38): Show GAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01106.hp1 HG01123.hp2 others(11): Show HG00323.hp2 HG01106.hp1 HG01123.hp2 HG01256.hp1 HG01981.hp1 NA18747.hp2 NA18950.hp2 NA18954.hp2 NA18956.hp2 NA18971.hp1 NA19003.hp1 NA19003.hp2 NA19072.hp1 NA20805.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0008c0009t0001 a0001c0001t0001 a0001c0001t0002 a0008c0009t0001	a0001c0001t0001g0013 a0001c0001t0001g0071 a0001c0001t0001g0077 others(11): Show a0001c0001t0001g0013 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0002g0098 a0008c0009t0001g0104	14	295	0.0475	45	c.803 others(60): Show c.803+812_803+813insTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT CCCCTCCCCTCCCCT		USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	5/6						chr15	TogoVar
USP50_chr15_50495562_50551666	50537896	G G	GAGGGGAG others(38): Show GAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0374 a0001c0001t0001g0374	1	282	0.0035	45	c.803 others(60): Show c.803+812_803+813insTCCCTTCCCTTCCCTTCCCTTCCCTCCCCT CCCCTCCCCTCCCCT		USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	5/6						chr15	TogoVar
USP50_chr15_50495562_50551666	50537906	G G	GAGGGGAG others(38): Show GAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	38	0.0263	45	c.803 others(60): Show c.803+802_803+803insTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT TCCCTTCCCTCCCCT		USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	5/6						chr15	TogoVar
VAV1_chr19_6767708_6862361	6830490	A A	AATGCAGT others(38): Show AATGCAGTGGCACGGTCTTGGCTCACTGCAACCTCTGGCTCCCAGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	304	0.0033	45	c.139 others(62): Show c.1398+573_1398+617dupATGCAGTGGCACGGTCTTGGCTCACTGC AACCTCTGGCTCCCAGG		VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	14/26					INFO_REALIGN_3_PRIME	chr19	TogoVar
VCX2_chrX_8164944_8176267	8169595	T T	TCCTCCCT others(38): Show TCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0015 a0015	a0015c0026 a0015c0026	a0015c0026t0001 a0015c0026t0001	a0015c0026t0001g0051 a0015c0026t0001g0051	1	55	0.0182	45	c.43 others(54): Show c.436_*437insGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGGAGG		VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding					348		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169657	T T	TCCTCCCT others(38): Show TCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	69	0.0145	45	c.37 others(54): Show c.374_*375insGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGGAGG		VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding					286		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466712	A A	AGGGAGGG others(38): Show AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA19009.hp1 NA18947.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	2	258	0.0078	45	c.32 others(54): Show c.329_*330insGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGGG		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding					203		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467836	T T	TTCTGAAT others(38): Show TTCTGAATATAGTAGAATTTACTATATAGAAATATACATAAATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	270	0.0037	45	c.14 others(56): Show c.1453_*1454insTCTGAATATAGTAGAATTTACTATATAGAAATAT ACATAAATATA		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding					1327		chrX	TogoVar
VEGFB_chr11_64229584_64244264	64237126	G G	GAGAGAGA others(38): Show GAGAGAGAGAGAGACAGAGACAGACAGAGACAGACAGAGACAGACA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	221	0.0045	45	c.375 others(58): Show c.375-61_375-60insAGAGAGAGAGAGACAGAGACAGACAGAGACAG ACAGAGACAGACA		VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6						chr11	TogoVar
VEGFB_chr11_64229584_64244264	64237126	G G	GAGAGAGA others(38): Show GAGAGAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAGACAGACA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01981.hp1 NA19065.hp1 HG01978.hp1 HG01981.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0001 a0001c0001t0001g0008	3	223	0.0135	45	c.375 others(58): Show c.375-61_375-60insAGAGAGAGAGAGAGAGAGAGAGACAGAGACAG ACAGAGACAGACA		VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6						chr11	TogoVar

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