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
TWIST2_chr2_238843085_238915534	238870581	A A	ACCCAACA others(7): Show ACCCAACACACACAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02615.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0321 a0001c0001t0001g0184 a0001c0001t0001g0321	2	293	0.0068	14	c.35 others(33): Show c.35+21849_*35+21850insCCAACACACACATC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870599	A A	ACACACAC others(7): Show ACACACACCACACCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA19060.hp1 NA20752.hp1 HG00558.hp2 NA19060.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0092 a0001c0001t0001g0117 a0001c0001t0001g0052 a0001c0001t0001g0092 a0001c0001t0001g0117	3	325	0.0092	14	c.35 others(33): Show c.35+21873_*35+21874insCACACCCCACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870794	A A	ACACCCCA others(7): Show ACACCCCATACACAC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	316	0.0032	14	c.35 others(33): Show c.35+22064_*35+22065insCCCATACACACCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870803	A A	ACACACAC others(7): Show ACACACACCACACCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01257.hp1 HG01515.hp2 others(3): Show HG00423.hp1 HG01257.hp1 HG01515.hp2 NA18952.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0067 a0001c0001t0001g0115 a0001c0001t0001g0149 others(3): Show a0001c0001t0001g0067 a0001c0001t0001g0115 a0001c0001t0001g0149 a0001c0001t0001g0210 a0001c0001t0001g0244 a0001c0001t0002g0260	6	128	0.0469	14	c.35 others(33): Show c.35+22070_*35+22071insCACACACCACACCC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870814	A A	ACACCCCA others(7): Show ACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	311	0.0032	14	c.35 others(33): Show c.35+22084_*35+22085insCCCACACACACCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870987	A A	ACACCCCA others(7): Show ACACCCCACACACAC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	272	0.0037	14	c.35 others(33): Show c.35+22257_*35+22258insCCCACACACACCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238905852	T T	TGTGCGTG others(7): Show TGTGCGTGTGGGTGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	336	0.0030	14	c.36 others(31): Show c.36-3981_*36-3980insGGTGCGTGCGTGTG	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWSG1_chr18_9329773_9407420	9344490	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	351	0.0028	14	c.123 others(31): Show c.123+7138_123+7139insGTGTGTGTGTGTGT	TWSG1	ENSG00000128791.12	transcript	ENST00000262120.10	protein_coding	2/4			chr18	TogoVar
TWSG1_chr18_9329773_9407420	9344491	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0067 a0001c0001t0005g0067	1	45	0.0222	14	c.123 others(31): Show c.123+7157_123+7170dupGTGTGTGTGTGTGT	TWSG1	ENSG00000128791.12	transcript	ENST00000262120.10	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
TWSG1_chr18_9329773_9407420	9344517	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp1 HG01167.hp1 others(9): Show HG00639.hp2 HG01106.hp1 HG01167.hp1 HG01192.hp1 HG01981.hp1 HG02071.hp2 HG02559.hp2 HG02896.hp1 HG02896.hp2 HG02970.hp1 NA18943.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0023 a0001c0002t0002	a0001c0001t0001g0035 a0001c0001t0001g0193 a0001c0001t0001g0255 others(9): Show a0001c0001t0001g0035 a0001c0001t0001g0193 a0001c0001t0001g0255 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0281 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0237 a0001c0001t0013g0170 a0001c0001t0023g0310 a0001c0002t0002g0238	12	173	0.0694	14	c.123 others(31): Show c.123+7170_123+7171insGTGTGTGTATGTGT	TWSG1	ENSG00000128791.12	transcript	ENST00000262120.10	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
TWSG1_chr18_9329773_9407420	9344529	G G	GTGTATGT others(7): Show GTGTATGTATGTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	296	0.0034	14	c.123 others(31): Show c.123+7178_123+7179insGTATGTATGTTTTT	TWSG1	ENSG00000128791.12	transcript	ENST00000262120.10	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
TXK_chr4_48061393_48139250	48080662	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0116 a0001c0001t0003g0116	1	80	0.0125	14	c.957 others(29): Show c.957-548_957-535dupTGTGTGTGTGTGTG	TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	10/14			chr4	TogoVar
TXLNB_chr6_139235061_139296998	139292086	G G	GCACACAC others(7): Show GCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02071.hp1 HG00558.hp1 HG02071.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0006 a0002c0016t0006	a0002c0016t0006g0135 a0002c0016t0006g0136 a0002c0016t0006g0135 a0002c0016t0006g0136	2	148	0.0135	14	c.-18 others(23): Show c.-181_-180insTGTGTGTGTGTGTG	TXLNB	ENSG00000164440.15	transcript	ENST00000358430.8	protein_coding		89		chr6	TogoVar
TXLNG_chrX_16781466_16849519	16782387	C C	CATATATA others(7): Show CATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	260	0.0038	14	c.-41 others(25): Show c.-4101_-4100insATATATATATATAT	TXLNG	ENSG00000086712.13	transcript	ENST00000380122.10	protein_coding		4078		chrX	TogoVar
TXLNG_chrX_16781466_16849519	16782389	A A	AATATATA others(7): Show AATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01106.hp1 others(20): Show HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01261.hp1 HG01358.hp1 HG01981.hp1 HG02004.hp1 HG02071.hp1 HG02258.hp1 HG02486.hp1 HG02809.hp1 HG03139.hp1 HG03540.hp1 HG04204.hp1 NA18522.hp1 NA18948.hp1 NA19010.hp2 NA19063.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0002t0010 a0002c0003t0028	a0001c0001t0001g0013 a0001c0001t0001g0118 a0001c0001t0001g0119 others(19): Show a0001c0001t0001g0013 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0169 a0001c0001t0001g0180 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0003g0008 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0178 a0001c0001t0004g0234 a0001c0001t0005g0022 a0001c0001t0006g0054 a0001c0001t0016g0115 a0001c0002t0010g0051 a0002c0003t0028g0132	23	32	0.7188	14	c.-40 others(25): Show c.-4099_-4098insATATATATATATAT	TXLNG	ENSG00000086712.13	transcript	ENST00000380122.10	protein_coding		4076		chrX	TogoVar
TXLNG_chrX_16781466_16849519	16830830	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG02280.hp1 others(5): Show HG01081.hp2 HG01109.hp1 HG02280.hp1 HG02622.hp2 HG02809.hp2 HG03927.hp1 HG04115.hp1 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0004c0007t0008	a0001c0001t0001g0110 a0001c0001t0001g0171 a0001c0001t0001g0214 others(5): Show a0001c0001t0001g0110 a0001c0001t0001g0171 a0001c0001t0001g0214 a0001c0001t0003g0143 a0001c0001t0003g0172 a0001c0001t0004g0092 a0001c0001t0009g0206 a0004c0007t0008g0046	8	18	0.4444	14	c.864 others(31): Show c.864+1103_864+1116dupGTGTGTGTGTGTGT	TXLNG	ENSG00000086712.13	transcript	ENST00000380122.10	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
TXN2_chr22_36462046_36486640	36482547	G G	GGGCAGAA others(7): Show GGGCAGAAGGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	338	0.0030	14	c.-98 others(23): Show c.-985_-984insAGAGGCCTTCTGCC	TXN2	ENSG00000100348.10	transcript	ENST00000216185.7	protein_coding		908		chr22	TogoVar
TXN2_chr22_36462046_36486640	36483281	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA20129.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	2	130	0.0154	14	c.-17 others(25): Show c.-1719_-1718insAAAAAAAAAAAAAA	TXN2	ENSG00000100348.10	transcript	ENST00000216185.7	protein_coding		1642		chr22	TogoVar
TXNDC11_chr16_11674083_11747857	11712929	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01496.hp1 HG01516.hp1 others(11): Show HG01175.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01993.hp2 HG02809.hp1 HG03239.hp2 NA18955.hp1 NA18967.hp2 NA18982.hp2 NA18985.hp1 NA19058.hp2 NA19086.hp2 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0005c0009t0001 a0001c0001t0001 a0005c0009t0001	a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0212 others(9): Show a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0225 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0256 a0005c0009t0001g0224 a0005c0009t0001g0247	14	149	0.0940	14	c.793 others(31): Show c.793+8634_793+8647dupGTGTGTGTGTGTGT	TXNDC11	ENSG00000153066.13	transcript	ENST00000283033.10	protein_coding	5/11			chr16	TogoVar
TXNDC15_chr5_134869371_134906635	134902517	A A	ATCTGCCG others(7): Show ATCTGCCGTTCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	14	c.28 others(25): Show c.2832_*2833insTCTGCCGTTCGCTC	TXNDC15	ENSG00000113621.15	transcript	ENST00000358387.9	protein_coding		883		chr5	TogoVar
TXNDC15_chr5_134869371_134906635	134906194	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0060 a0001c0001t0005g0060	1	68	0.0147	14	c.65 others(25): Show c.6509_*6510insTTTTTTTTTTTTTT	TXNDC15	ENSG00000113621.15	transcript	ENST00000358387.9	protein_coding		4560		chr5	TogoVar
TXNDC16_chr14_52425596_52557505	52493216	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0006 a0005c0006t0006	a0005c0006t0006g0189 a0005c0006t0006g0189	1	138	0.0072	14	c.757 others(31): Show c.757-2212_757-2211insGTATATATATATAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	9/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52530246	T T	TATATATT others(7): Show TATATATTATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	235	0.0043	14	c.392 others(31): Show c.392+6472_392+6473insTATATATAATATAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52530324	T T	TATATATA others(7): Show TATATATAATATTAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	183	0.0055	14	c.392 others(31): Show c.392+6394_392+6395insTTAATATTATATAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC8_chr9_110298476_110342863	110299942	A A	AATATATA others(7): Show AATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	355	0.0056	14	c.37 others(25): Show c.3739_*3740insATATATATATATAT	TXNDC8	ENSG00000204193.12	transcript	ENST00000423740.7	protein_coding		3533		chr9	TogoVar
TXNDC8_chr9_110298476_110342863	110305583	T T	TTTCTTTC others(7): Show TTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	414	0.0024	14	c.196 others(31): Show c.196-1052_196-1051insGAAGAAAGAAAGAA	TXNDC8	ENSG00000204193.12	transcript	ENST00000423740.7	protein_coding	3/4			chr9	TogoVar
TXNDC8_chr9_110298476_110342863	110326940	G G	GCACACAC others(7): Show GCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp1 HG01891.hp1 others(3): Show HG01081.hp1 HG01106.hp1 HG01891.hp1 HG02622.hp1 HG02735.hp2 HG03490.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0368 others(3): Show a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0368 a0001c0001t0001g0369 a0002c0002t0001g0309 a0002c0002t0001g0310	6	79	0.0759	14	c.130 others(29): Show c.130-714_130-701dupTGTGTGTGTGTGTG	TXNDC8	ENSG00000204193.12	transcript	ENST00000423740.7	protein_coding	2/4			chr9	TogoVar
TXNDC9_chr2_99313982_99341333	99330290	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02683.hp2 HG02897.hp2 others(2): Show HG01346.hp1 HG02683.hp2 HG02897.hp2 HG03098.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0090 a0001c0001t0001g0094 others(2): Show a0001c0001t0001g0076 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0136	5	32	0.1563	14	c.190 others(31): Show c.190-2651_190-2638dupTTTTTTTTTTTTTT	TXNDC9	ENSG00000115514.12	transcript	ENST00000264255.8	protein_coding	2/4			chr2	TogoVar
TXNL1_chr18_56592209_56643592	56607161	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03225.hp1 HG03471.hp1 others(1): Show HG01123.hp2 HG03225.hp1 HG03471.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0002t0030 a0001c0001t0020 a0001c0002t0030	a0001c0001t0020g0231 a0001c0001t0020g0235 a0001c0002t0030g0025 a0001c0001t0020g0231 a0001c0001t0020g0235 a0001c0002t0030g0025	4	13	0.3077	14	c.840 others(31): Show c.840+3818_840+3831dupCACACACACACACA	TXNL1	ENSG00000091164.13	transcript	ENST00000217515.11	protein_coding	7/7			chr18	TogoVar
TXNL4A_chr18_79965813_79993563	79969309	A A	AGGAAAGA others(7): Show AGGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	193	0.0052	14	c.43 others(25): Show c.4375_*4376insCTTTCTTTCTTTCC	TXNL4A	ENSG00000141759.15	transcript	ENST00000269601.10	protein_coding		1503		chr18	TogoVar
TXNL4B_chr16_72079857_72098620	72087326	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	119	0.0084	14	c.285 others(29): Show c.285-538_285-525dupCACACACACACACA	TXNL4B	ENSG00000140830.9	transcript	ENST00000268483.8	protein_coding	3/3			chr16	TogoVar
TXNRD1_chr12_104210779_104355307	104252660	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03579.hp1 HG01192.hp2 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0088 a0001c0003t0003g0106 a0001c0003t0001g0088 a0001c0003t0003g0106	2	266	0.0075	14	c.243 others(29): Show c.243+983_243+984insATATATATATATAT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104252690	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0152 a0001c0003t0001g0152	1	111	0.0090	14	c.243 others(31): Show c.243+1013_243+1014insATATATATATATTT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104252690	A A	ATATATAT others(7): Show ATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03516.hp2 HG00140.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0213 a0001c0005t0001g0108 a0001c0002t0001g0213 a0001c0005t0001g0108	2	112	0.0179	14	c.243 others(31): Show c.243+1013_243+1014insATATATATATTTTT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104254630	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03516.hp1 HG02809.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0004 a0001c0002t0001 a0001c0004t0004	a0001c0002t0001g0101 a0001c0004t0004g0275 a0001c0002t0001g0101 a0001c0004t0004g0275	2	108	0.0185	14	c.243 others(31): Show c.243+2954_243+2967dupAAAAAAAAAAAAAA	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104254644	A A	AAAATATA others(7): Show AAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0139 a0001c0003t0001g0139	1	206	0.0049	14	c.243 others(31): Show c.243+2967_243+2968insAATATATATATATA	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267699	T T	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0149 a0001c0002t0001g0146 a0001c0002t0001g0149	2	258	0.0078	14	c.304 others(31): Show c.304+9623_304+9624insTTCTTTCTTTCTCT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104290720	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02602.hp1 HG03540.hp1 others(3): Show HG01192.hp2 HG02602.hp1 HG03540.hp1 HG04228.hp2 NA18963.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0013 a0001c0001t0001g0037 a0001c0001t0001g0164 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0037 a0001c0001t0001g0164 a0001c0001t0001g0252 a0001c0002t0001g0179 a0001c0003t0001g0088	6	73	0.0822	14	c.414 others(31): Show c.414+1705_414+1718dupATATATATATATAT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104294233	G G	GGCGCCCC others(7): Show GGCGCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG01168.hp1 others(8): Show HG00423.hp1 HG00438.hp2 HG01168.hp1 HG01952.hp2 HG02129.hp2 HG02165.hp1 HG02717.hp1 NA18747.hp1 NA19007.hp1 NA19009.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0040 a0001c0001t0001g0199 a0001c0001t0001g0214 others(8): Show a0001c0001t0001g0040 a0001c0001t0001g0199 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0260 a0001c0001t0001g0283 a0001c0001t0008g0231	11	120	0.0917	14	c.414 others(31): Show c.414+5193_414+5194insGCGCCCCCCCCCCC	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	4/16			chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104302486	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01081.hp2 HG02735.hp2 HG01069.hp2 HG01081.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0149 a0001c0002t0001g0180 a0001c0005t0001g0111 a0001c0002t0001g0149 a0001c0002t0001g0180 a0001c0005t0001g0111	3	49	0.0612	14	c.415 others(31): Show c.415-8796_415-8783dupTTTTTTTTTTTTTT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD2_chr22_19870522_19946818	19909567	T T	TACACACA others(7): Show TACACACACCATCAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0123 a0003c0003t0001g0123	1	119	0.0084	14	c.662 others(31): Show c.662+1809_662+1810insGTGATGGTGTGTGT	TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	8/17			chr22	TogoVar
TXNRD2_chr22_19870522_19946818	19909874	T T	TCACACAC others(7): Show TCACACACACAACCA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01256.hp2 HG01258.hp1 others(11): Show HG01081.hp1 HG01256.hp2 HG01258.hp1 HG01496.hp2 HG01516.hp1 HG02109.hp1 HG02155.hp1 HG02523.hp1 HG02602.hp1 HG03669.hp2 HG04184.hp1 NA18992.hp2 NA19091.hp1 NA21309.hp2	a0004 a0005 a0006 a0004 a0005 a0006	a0004c0008 a0004c0017 a0004c0027 others(3): Show a0004c0008 a0004c0017 a0004c0027 a0004c0028 a0005c0005 a0006c0014	a0004c0008t0002 a0004c0017t0002 a0004c0027t0001 others(3): Show a0004c0008t0002 a0004c0017t0002 a0004c0027t0001 a0004c0028t0002 a0005c0005t0001 a0006c0014t0001	a0004c0008t0002g0184 a0004c0008t0002g0200 a0004c0008t0002g0215 others(10): Show a0004c0008t0002g0184 a0004c0008t0002g0200 a0004c0008t0002g0215 a0004c0008t0002g0309 a0004c0017t0002g0076 a0004c0017t0002g0282 a0004c0027t0001g0214 a0004c0028t0002g0212 a0005c0005t0001g0009 a0005c0005t0001g0187 a0006c0014t0001g0038 a0006c0014t0001g0118 a0006c0014t0001g0213	14	280	0.0500	14	c.662 others(31): Show c.662+1502_662+1503insTGGTTGTGTGTGTG	TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	8/17			chr22	TogoVar
TXNRD3_chr3_126602050_126660124	126637932	C C	CTCTTTTT others(7): Show CTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	63	0.0159	14	c.713 others(31): Show c.713-3882_713-3881insAAAAAAAAAAAAGA	TXNRD3	ENSG00000197763.20	transcript	ENST00000524230.9	protein_coding	6/15			chr3	TogoVar
TXN_chr9_110238810_110261507	110245618	C C	CACACACA others(7): Show CACACACACACACTA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02273.hp1 HG01928.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0049 a0001c0001t0001g0050	2	315	0.0063	14	c.190 others(29): Show c.190-776_190-775insTAGTGTGTGTGTGT	TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	3/4			chr9	TogoVar
TXN_chr9_110238810_110261507	110245618	C C	CACACACA others(7): Show CACACACACACTATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18747.hp1 NA18952.hp1 others(9): Show HG00558.hp1 NA18747.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18966.hp2 NA18977.hp1 NA18977.hp2 NA19001.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0001g0062 others(9): Show a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0233 a0001c0001t0001g0258 a0001c0001t0001g0264 a0001c0001t0001g0298	12	325	0.0369	14	c.190 others(29): Show c.190-776_190-775insTATAGTGTGTGTGT	TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	3/4			chr9	TogoVar
TXN_chr9_110238810_110261507	110245618	C C	CTATATAT others(7): Show CTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	314	0.0032	14	c.190 others(29): Show c.190-789_190-776dupTATATATATATATA	TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	3/4			chr9	TogoVar
TXN_chr9_110238810_110261507	110252223	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	213	0.0047	14	c.25- others(27): Show c.25-775_25-762dupTTTTTTTTTTTTTT	TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	1/4			chr9	TogoVar
TYK2_chr19_10345533_10385572	10372458	C C	CTATATAT others(7): Show CTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02897.hp2 HG01884.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0322 a0001c0001t0002g0339 a0001c0001t0002g0322 a0001c0001t0002g0339	2	303	0.0066	14	c.194 others(31): Show c.194-4054_194-4041dupTATATATATATATA	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
TYK2_chr19_10345533_10385572	10372484	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG01891.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0320 a0001c0001t0002g0318 a0001c0001t0002g0320	2	170	0.0118	14	c.194 others(31): Show c.194-4067_194-4066insAATATATATATATA	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
TYK2_chr19_10345533_10385572	10384533	A A	ACTGGGCA others(7): Show ACTGGGCACAAACTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00280.hp1 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0207 a0001c0001t0001g0100 a0001c0001t0001g0207	2	374	0.0053	14	c.-43 others(25): Show c.-4340_-4339insCAGTTTGTGCCCAG	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding		3962		chr19	TogoVar

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