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
TWIST2_chr2_238843085_238915534	238870189	A A	ACCCCATA others(21): Show ACCCCATACACACCACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01258.hp1 HG01516.hp1 others(1): Show HG01175.hp1 HG01258.hp1 HG01516.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0210 a0001c0001t0001g0230 others(1): Show a0001c0001t0001g0123 a0001c0001t0001g0210 a0001c0001t0001g0230 a0001c0001t0001g0249	4	298	0.0134	28	c.35 others(47): Show c.35+21457_*35+21458insCCCATACACACCACACCCCACACACA CC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870227	A A	ACCCCACA others(21): Show ACCCCACACACACCACACCCCACACACAC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	312	0.0032	28	c.35 others(47): Show c.35+21495_*35+21496insCCCACACACACCACACCCCACACACA CC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870630	A A	ACACCCAA others(21): Show ACACCCAACACACACATCACACACCACAC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	285	0.0035	28	c.35 others(47): Show c.35+21898_*35+21899insACCCAACACACACATCACACACCACA CC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870878	A A	ACCCCACA others(21): Show ACCCCACACACACCACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02970.hp1 HG02630.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0329 a0001c0001t0001g0239 a0001c0001t0001g0329	2	272	0.0074	28	c.35 others(47): Show c.35+22146_*35+22147insCCCACACACACCACACCCCACACACA CC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870989	A A	ACCCCACA others(21): Show ACCCCACACACACCACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 NA20805.hp2 HG01257.hp2 HG01258.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0002g0254 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0002g0254	3	230	0.0130	28	c.35 others(47): Show c.35+22257_*35+22258insCCCACACACACCACACCCCACACACA CC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238871076	C C	CATACACA others(21): Show CATACACACCACACCCCATACACACCACA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	8	0.1250	28	c.35 others(47): Show c.35+22343_*35+22344insATACACACCACACCCCATACACACCA CA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TXK_chr4_48061393_48139250	48104252	T T	TATATATA others(21): Show TATATATATAATATATAATATAATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	337	0.0030	28	c.501 others(43): Show c.501+621_501+648dupTATATATTATATTATATATTATATATAT	TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14			chr4	TogoVar
TXK_chr4_48061393_48139250	48104504	T T	TATATATA others(21): Show TATATATATAATATATAATATTATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01496.hp2 HG02004.hp2 HG01099.hp2 HG01496.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0203 a0001c0001t0002g0207 a0001c0001t0002g0210	3	344	0.0087	28	c.501 others(43): Show c.501+396_501+397insTATATATAATATTATATATTATATATAT	TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14			chr4	TogoVar
TXK_chr4_48061393_48139250	48104532	T T	TATATATA others(21): Show TATATATATAATATATAATATTATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	185	0.0054	28	c.501 others(43): Show c.501+368_501+369insTATATATAATATTATATATTATATATAT	TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14			chr4	TogoVar
TXLNG_chrX_16781466_16849519	16782389	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG02074.hp1 NA18612.hp1 others(2): Show HG01975.hp1 HG02074.hp1 NA18612.hp1 NA18967.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0217 a0001c0001t0001g0225 others(2): Show a0001c0001t0001g0197 a0001c0001t0001g0217 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0236	5	14	0.3571	28	c.-40 others(39): Show c.-4099_-4098insATATATATATATATATATATATATATAT	TXLNG	ENSG00000086712.13	transcript	ENST00000380122.10	protein_coding		4076		chrX	TogoVar
TXLNG_chrX_16781466_16849519	16830830	C C	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02080.hp2 others(4): Show HG01070.hp2 HG01071.hp2 HG02080.hp2 HG02895.hp1 NA18961.hp1 NA18988.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0124 a0001c0001t0001g0211 a0001c0001t0003g0010 others(2): Show a0001c0001t0001g0124 a0001c0001t0001g0211 a0001c0001t0003g0010 a0001c0001t0004g0007 a0001c0001t0004g0099	7	17	0.4118	28	c.864 others(45): Show c.864+1089_864+1116dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	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(21): Show TATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02486.hp2 HG01346.hp2 HG02486.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0136 a0003c0004t0004g0137 a0003c0004t0004g0136 a0003c0004t0004g0137	2	139	0.0144	28	c.757 others(45): Show c.757-2212_757-2211insGTGTGTGTGTATATATATATATATATAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	9/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52493216	T T	TATATATA others(21): Show TATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0139 a0003c0004t0004g0139	1	138	0.0072	28	c.757 others(45): Show c.757-2212_757-2211insGTGTGTGTATATATATATATATATATAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	9/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52493216	T T	TATATATA others(21): Show TATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0138 a0003c0004t0004g0138	1	138	0.0072	28	c.757 others(45): Show c.757-2212_757-2211insGTGTGTATATATATATATATATATATAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	9/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52529494	C C	CTATATAT others(21): Show CTATATATTATTATATATAATGCCTATTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01069.hp2 HG01167.hp1 others(17): Show HG00280.hp2 HG01069.hp2 HG01167.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02257.hp2 HG02647.hp1 HG02970.hp1 HG02976.hp2 HG03490.hp1 HG03492.hp1 HG03710.hp2 HG03831.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 a0001c0001t0018 a0001c0002t0001 a0002c0003t0002	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 others(17): Show a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0009g0229 a0001c0001t0009g0230 a0001c0001t0014g0144 a0001c0001t0018g0228 a0001c0002t0001g0162 a0002c0003t0002g0164 a0002c0003t0002g0210	20	181	0.1105	28	c.392 others(45): Show c.392+7224_392+7225insTAATAGGCATTATATATAATAATATATA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC9_chr2_99313982_99341333	99338993	A A	AATATATA others(21): Show AATATATATATACAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	241	0.0041	28	c.-27 others(39): Show c.-2788_-2787insATATATATATATATTTGTATATATATAT	TXNDC9	ENSG00000115514.12	transcript	ENST00000264255.8	protein_coding		2661		chr2	TogoVar
TXNRD1_chr12_104210779_104355307	104254644	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03579.hp1 HG01346.hp2 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0140 a0001c0003t0003g0106 a0001c0003t0001g0140 a0001c0003t0003g0106	2	207	0.0097	28	c.243 others(45): Show c.243+2967_243+2968insAAAAAAAAAAAAAATATATATATATATA	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104254644	A A	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0137 a0001c0003t0001g0137	1	206	0.0049	28	c.243 others(45): Show c.243+2967_243+2968insAAAAAAAAAATATATATATATATATATA	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104254644	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0109 a0001c0005t0001g0109	1	206	0.0049	28	c.243 others(45): Show c.243+2967_243+2968insAAAATATATATATATATATATATATATA	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267241	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp1 others(51): Show HG00099.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00738.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01168.hp1 HG01257.hp2 HG01361.hp2 HG01496.hp1 HG02055.hp2 HG02148.hp2 HG02165.hp2 HG02559.hp2 HG02622.hp1 HG02647.hp2 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03491.hp1 HG03491.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04184.hp2 NA18939.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18961.hp1 NA18962.hp1 NA18967.hp1 NA18971.hp2 NA18982.hp1 NA18991.hp2 NA19001.hp2 NA19007.hp2 NA19012.hp1 NA19043.hp1 NA19070.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0009 a0003c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0007t0005 a0002c0009t0001 a0003c0008t0003	a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0025 others(51): Show a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0218 a0001c0001t0001g0232 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0003g0302 a0001c0001t0008g0231 a0001c0002t0001g0146 a0001c0002t0001g0173 a0001c0002t0001g0177 a0001c0002t0001g0180 a0001c0002t0001g0187 a0001c0002t0001g0286 a0001c0002t0002g0029 a0001c0002t0002g0032 a0001c0002t0002g0049 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0075 a0001c0002t0002g0265 a0001c0003t0001g0001 a0001c0003t0001g0145 a0001c0003t0001g0147 a0001c0003t0001g0159 a0001c0003t0003g0098 a0001c0003t0003g0100 a0001c0003t0003g0110 a0001c0003t0003g0121 a0001c0003t0003g0126 a0001c0004t0001g0092 a0001c0004t0003g0089 a0001c0004t0003g0279 a0001c0005t0001g0111 a0001c0007t0005g0282 a0002c0009t0001g0295 a0003c0008t0003g0239	54	66	0.8182	28	c.304 others(45): Show c.304+9177_304+9204dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267647	A A	ATCTTTCC others(21): Show ATCTTTCCTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18982.hp2 HG03710.hp1 NA18982.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0006 a0001c0004t0001 a0001c0004t0006	a0001c0004t0001g0092 a0001c0004t0006g0091 a0001c0004t0001g0092 a0001c0004t0006g0091	2	17	0.1176	28	c.304 others(45): Show c.304+9574_304+9575insCTTCTTTCTTTCTTTCTTTCTTTCTTTC	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104294233	G G	GGCGCCCC others(21): Show GGCGCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	110	0.0091	28	c.414 others(45): Show c.414+5193_414+5194insGCGCCCCCCCCCCCCCCCCCCCCCCCCC	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	4/16			chr12	TogoVar
TXN_chr9_110238810_110261507	110245618	C C	CACACACA others(21): Show CACACACACACACTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	314	0.0032	28	c.190 others(43): Show c.190-776_190-775insTATATATATATATATAGTGTGTGTGTGT	TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	3/4			chr9	TogoVar
TXN_chr9_110238810_110261507	110245618	C C	CACACACA others(21): Show CACACACACACTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	314	0.0032	28	c.190 others(43): Show c.190-776_190-775insTATATATATATATATATAGTGTGTGTGT	TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	3/4			chr9	TogoVar
TXN_chr9_110238810_110261507	110245618	C C	CACACACA others(21): Show CACACACACTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	314	0.0032	28	c.190 others(43): Show c.190-776_190-775insTATATATATATATATATATAGTGTGTGT	TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	3/4			chr9	TogoVar
TYK2_chr19_10345533_10385572	10372458	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA19085.hp1 HG00140.hp2 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0002 a0001c0001t0002 a0003c0004t0002	a0001c0001t0002g0332 a0003c0004t0002g0063 a0001c0001t0002g0332 a0003c0004t0002g0063	2	303	0.0066	28	c.194 others(45): Show c.194-4041_194-4040insTATATATATATATATATATATATATATA	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
TYMS_chr18_652653_678578	657645	A A	ACCGCGCC others(21): Show ACCGCGCCACTTGGCCTGCCTCCGTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG02572.hp1 others(1): Show HG01891.hp2 HG02451.hp2 HG02572.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0185 a0001c0001t0004g0283 a0001c0001t0004g0286 others(1): Show a0001c0001t0004g0185 a0001c0001t0004g0283 a0001c0001t0004g0286 a0001c0001t0004g0287	4	344	0.0116	28	c.-98 others(35): Show c.-98_-97insCCGCGCCACTTGGCCTGCCTCCGTCCCG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding		7		chr18	TogoVar
TYMS_chr18_652653_678578	657657	G G	GGCCTGCC others(21): Show GGCCTGCCTCCGTCCCGCCGCGCCACTTC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0294 a0001c0001t0002g0295	2	480	0.0042	28	c.-59 others(35): Show c.-59_-58insCGCCTGCCTCCGTCCCGCCGCGCCACTT	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	1/7	58	INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667456	A A	ATGGAGAT others(21): Show ATGGAGATGGTGATGGTGATGGGTGATGG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02735.hp2 HG01168.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0127 a0001c0001t0005g0209 a0001c0001t0001g0127 a0001c0001t0005g0209	2	422	0.0047	28	c.455 others(45): Show c.455-1614_455-1613insGAGATGGTGATGGTGATGGGTGATGGTG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYR_chr11_89172875_89300759	89177176	G G	GGAGAGGG others(21): Show GGAGAGGGAGAGAGAGAGAGAGAGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	298	0.0034	28	c.-77 others(37): Show c.-778_-777insGAGAGGGAGAGAGAGAGAGAGAGAGGGA	TYR	ENSG00000077498.9	transcript	ENST00000263321.6	protein_coding		698		chr11	TogoVar
TYR_chr11_89172875_89300759	89198754	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0286 a0001c0004t0001g0286	1	212	0.0047	28	c.103 others(47): Show c.1036+7352_1036+7353insATATATATATATATATATATATATAT AT	TYR	ENSG00000077498.9	transcript	ENST00000263321.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
TYSND1_chr10_70132981_70151700	70149547	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0006 a0002c0001t0001g0006	1	25	0.0400	28	c.-29 others(39): Show c.-2962_-2961insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	TYSND1	ENSG00000156521.14	transcript	ENST00000287078.7	protein_coding		2848		chr10	TogoVar
TYW1_chr7_66991833_67244514	67210764	G G	GTCCGTCC others(21): Show GTCCGTCCATCCATCCATCCATCCATCCA	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18906.hp1 HG02818.hp2 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0215 a0002c0003t0002g0234 a0002c0003t0002g0215 a0002c0003t0002g0234	2	257	0.0078	28	c.197 others(49): Show c.1977+15430_1977+15431insGTCCATCCATCCATCCATCCATCC ATCC	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67210893	T T	TATCCAAC others(21): Show TATCCAACCATCCATCCATCCATCCATCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0012 a0003c0005t0002g0012	1	361	0.0028	28	c.197 others(49): Show c.1977+15561_1977+15562insACCATCCATCCATCCATCCATCCA TCCA	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
UACA_chr15_70649554_70768558	70700299	T T	TTGTATAT others(21): Show TTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02683.hp1 NA19056.hp2 HG02015.hp2 HG02683.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0036 a0001c0003t0002g0042 a0001c0003t0002g0103 a0001c0001t0001g0036 a0001c0003t0002g0042 a0001c0003t0002g0103	3	283	0.0106	28	c.79- others(41): Show c.79-640_79-639insTATATATATATATATATATATATATACA	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70700301	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp2 HG00621.hp1 others(7): Show HG00099.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01192.hp2 HG02723.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0020 a0001c0001 a0001c0003 a0001c0020	a0001c0001t0001 a0001c0003t0002 a0001c0003t0017 others(1): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0017 a0001c0020t0002	a0001c0001t0001g0235 a0001c0003t0002g0037 a0001c0003t0002g0044 others(7): Show a0001c0001t0001g0235 a0001c0003t0002g0037 a0001c0003t0002g0044 a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0003t0002g0049 a0001c0003t0002g0104 a0001c0003t0002g0203 a0001c0003t0017g0045 a0001c0020t0002g0048	10	268	0.0373	28	c.79- others(41): Show c.79-642_79-641insTACATATATATATATATATATATATATA	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70700318	T T	TATATATA others(21): Show TATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0270 a0001c0004t0003g0270	1	264	0.0038	28	c.79- others(41): Show c.79-659_79-658insGTGTGTGTGTATATATATATATATATAT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70700318	T T	TATATATA others(21): Show TATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG03579.hp2 others(1): Show HG01884.hp2 HG02258.hp1 HG03579.hp2 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0014 a0001c0004t0020 a0001c0004t0003 a0001c0004t0014 a0001c0004t0020	a0001c0004t0003g0259 a0001c0004t0003g0261 a0001c0004t0014g0123 others(1): Show a0001c0004t0003g0259 a0001c0004t0003g0261 a0001c0004t0014g0123 a0001c0004t0020g0260	4	267	0.0150	28	c.79- others(41): Show c.79-659_79-658insGTGTGTGTATATATATATATATATATAT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70700318	T T	TATATATA others(21): Show TATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0269 a0001c0004t0003g0269	1	264	0.0038	28	c.79- others(41): Show c.79-659_79-658insGTGTGTATATATATATATATATATATAT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70712051	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0025 a0001c0003t0002g0025	1	245	0.0041	28	c.79- others(45): Show c.79-12392_79-12391insATATATATATATATATATATATATATAT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70735147	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAATTCTCAAAAAAA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	107	0.0093	28	c.78+ others(45): Show c.78+28182_78+28183insTTTTTTTGAGAATTTTTTTTTTTTTTTT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UAP1_chr1_162556722_162606240	162577435	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0078 a0001c0006t0007g0078	1	236	0.0042	28	c.485 others(43): Show c.485+458_485+485dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	UAP1	ENSG00000117143.14	transcript	ENST00000367925.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0232 a0001c0002t0002g0232	1	90	0.0111	28	c.124 others(47): Show c.1246-1589_1246-1588insAATATATATATATATATATATATATA TA	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0250 a0001c0002t0002g0250	1	90	0.0111	28	c.124 others(47): Show c.1246-1582_1246-1555dupTATATATATATATATATATATATATA TA	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBAC2_chr13_99195854_99391504	99232397	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 NA19007.hp1 HG01069.hp2 HG01071.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0050 a0001c0001t0001g0069 a0001c0001t0001g0071	3	313	0.0096	28	c.32- others(43): Show c.32-6029_32-6028insTATATATATATATATATATATATATATA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99232399	G G	GAGAGATA others(21): Show GAGAGATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	201	0.0050	28	c.32- others(43): Show c.32-6027_32-6026insGAGATATATATATATATATATATATATA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99232399	G G	GAGATAGA others(21): Show GAGATAGATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	201	0.0050	28	c.32- others(43): Show c.32-6027_32-6026insGATAGATATATATATATATATATATATA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99232399	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02027.hp1 NA18992.hp2 others(1): Show HG01496.hp1 HG02027.hp1 NA18992.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0076 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0076 a0001c0001t0001g0077	4	204	0.0196	28	c.32- others(43): Show c.32-6023_32-6022insTATATATATATATATATATATATATATA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99330458	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02965.hp2 HG01884.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0279 a0001c0001t0001g0280	2	17	0.1176	28	c.562 others(45): Show c.562-9844_562-9843insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99338039	C C	CTTTTTTC others(21): Show CTTTTTTCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02132.hp2 HG02027.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0362 a0001c0001t0001g0363	2	245	0.0082	28	c.562 others(45): Show c.562-2275_562-2274insCTTTTTTTTTTTTTTTTTTTTTTTTTTT	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar

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