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	238867370	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02080.hp1 HG02818.hp1 others(3): Show HG01433.hp1 HG02080.hp1 HG02818.hp1 HG03139.hp2 HG03654.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0078 a0001c0001t0001g0185 a0001c0001t0001g0251 others(3): Show a0001c0001t0001g0078 a0001c0001t0001g0185 a0001c0001t0001g0251 a0001c0001t0001g0289 a0001c0001t0001g0318 a0001c0001t0002g0294	6	20	0.3000	16	c.35 others(35): Show c.35+18664_*35+18679dupACACACACACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238869442	A A	AATTATCC others(9): Show AATTATCCATCTGATAG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	336	0.0030	16	c.35 others(35): Show c.35+20710_*35+20725dupATTATCCATCTGATAG	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870348	A A	ACACAAAC others(9): Show ACACAAACCACACACAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	329	0.0030	16	c.35 others(35): Show c.35+21619_*35+21620insAACCACACACACCACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870357	A A	ACACACAC others(9): Show ACACACACCACACAAAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	240	0.0042	16	c.35 others(35): Show c.35+21631_*35+21632insCACACAAACCACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870617	A A	ACACACCC others(9): Show ACACACCCGACACACGC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	230	0.0043	16	c.35 others(35): Show c.35+21889_*35+21890insCCGACACACGCCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWSG1_chr18_9329773_9407420	9344517	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01168.hp2 HG02055.hp2 others(9): Show HG00323.hp1 HG01168.hp2 HG02055.hp2 HG02280.hp2 HG02886.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03927.hp2 NA18522.hp2 NA18951.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0020 a0001c0001t0001g0151 a0001c0001t0001g0184 others(8): Show a0001c0001t0001g0020 a0001c0001t0001g0151 a0001c0001t0001g0184 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0259 a0001c0001t0001g0282 a0001c0001t0001g0311 a0001c0001t0001g0321 a0001c0001t0002g0182 a0001c0001t0004g0248	12	173	0.0694	16	c.123 others(33): Show c.123+7170_123+7171insGTGTGTGTGTATGTGT	TWSG1	ENSG00000128791.12	transcript	ENST00000262120.10	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
TXLNB_chr6_139235061_139296998	139254315	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0005 a0005c0010t0005	a0005c0010t0005g0164 a0005c0010t0005g0164	1	146	0.0068	16	c.107 others(35): Show c.1077+1233_1077+1248dupCACACACACACACACA	TXLNB	ENSG00000164440.15	transcript	ENST00000358430.8	protein_coding	7/9			chr6	TogoVar
TXLNG_chrX_16781466_16849519	16782389	A A	AATATATA others(9): Show AATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01081.hp2 HG01123.hp1 others(9): Show HG00609.hp1 HG01081.hp2 HG01123.hp1 HG01258.hp1 HG02976.hp1 HG03195.hp2 NA18906.hp2 NA18940.hp1 NA18969.hp1 NA19009.hp1 NA19057.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0021 a0001c0002t0001 a0002c0003t0003	a0001c0001t0001g0113 a0001c0001t0001g0183 a0001c0001t0001g0205 others(9): Show a0001c0001t0001g0113 a0001c0001t0001g0183 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0003g0002 a0001c0001t0003g0138 a0001c0001t0011g0161 a0001c0001t0021g0130 a0001c0002t0001g0191 a0002c0003t0003g0175	12	21	0.5714	16	c.-40 others(27): Show c.-4099_-4098insATATATATATATATAT	TXLNG	ENSG00000086712.13	transcript	ENST00000380122.10	protein_coding		4076		chrX	TogoVar
TXLNG_chrX_16781466_16849519	16830830	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG03516.hp1 others(1): Show HG01884.hp2 HG02280.hp2 HG03516.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0135 a0001c0001t0003g0151 others(1): Show a0001c0001t0003g0085 a0001c0001t0003g0135 a0001c0001t0003g0151 a0001c0001t0003g0176	4	14	0.2857	16	c.864 others(33): Show c.864+1101_864+1116dupGTGTGTGTGTGTGTGT	TXLNG	ENSG00000086712.13	transcript	ENST00000380122.10	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
TXN2_chr22_36462046_36486640	36483281	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00642.hp2 HG00741.hp2 others(32): Show HG00544.hp1 HG00642.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02109.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02486.hp2 HG02602.hp1 HG02735.hp2 HG03490.hp1 HG03834.hp1 HG04184.hp2 NA18945.hp1 NA18954.hp1 NA18955.hp1 NA18963.hp2 NA18969.hp2 NA18994.hp1 NA19043.hp2 NA19056.hp2 NA19081.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0107 a0001c0001t0003g0058 a0001c0001t0004g0007 a0001c0001t0004g0056 a0001c0001t0004g0110 a0001c0002t0001g0025	35	163	0.2147	16	c.-17 others(27): Show c.-1719_-1718insAAAAAAAAAAAAAAAA	TXN2	ENSG00000100348.10	transcript	ENST00000216185.7	protein_coding		1642		chr22	TogoVar
TXNDC11_chr16_11674083_11747857	11712929	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03490.hp1 HG03492.hp1 others(4): Show HG02165.hp1 HG03490.hp1 HG03492.hp1 NA18949.hp1 NA18959.hp2 NA18986.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0015 a0001c0001t0001g0222 a0001c0001t0001g0223 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0008t0001g0220 a0001c0008t0001g0221 a0001c0008t0001g0241	7	142	0.0493	16	c.793 others(33): Show c.793+8632_793+8647dupGTGTGTGTGTGTGTGT	TXNDC11	ENSG00000153066.13	transcript	ENST00000283033.10	protein_coding	5/11			chr16	TogoVar
TXNDC15_chr5_134869371_134906635	134881171	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00673.hp1 others(34): Show HG00140.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG02129.hp1 HG02451.hp1 HG02738.hp2 HG02922.hp1 HG02976.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03831.hp2 HG04199.hp1 HG04228.hp2 NA18948.hp2 NA18950.hp2 NA18959.hp2 NA18964.hp2 NA18965.hp2 NA18971.hp2 NA18995.hp2 NA19000.hp2 NA19001.hp2 NA19004.hp1 NA19030.hp1 NA19030.hp2 NA19062.hp2 NA19080.hp1 NA19082.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0235 a0001c0001t0002g0019 a0001c0001t0002g0030 others(22): Show a0001c0001t0001g0235 a0001c0001t0002g0019 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0049 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0138 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0003g0028 a0001c0001t0003g0069 a0001c0001t0003g0208 a0001c0002t0001g0009 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0196 a0001c0002t0001g0214	37	110	0.3364	16	c.104 others(33): Show c.104-6508_104-6493dupATTTATTTATTTATTT	TXNDC15	ENSG00000113621.15	transcript	ENST00000358387.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
TXNDC15_chr5_134869371_134906635	134883587	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02896.hp2 HG03540.hp1 HG02818.hp1 HG02896.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0104 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0104	3	68	0.0441	16	c.104 others(33): Show c.104-4099_104-4084dupAAAAAAAAAAAAAAAA	TXNDC15	ENSG00000113621.15	transcript	ENST00000358387.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
TXNDC15_chr5_134869371_134906635	134883606	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	416	0.0024	16	c.104 others(33): Show c.104-4084_104-4083insAAAAAAAAAAGAAAAA	TXNDC15	ENSG00000113621.15	transcript	ENST00000358387.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
TXNDC16_chr14_52425596_52557505	52493216	T T	TATATATA others(9): Show TATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0135 a0003c0004t0004g0135	1	138	0.0072	16	c.757 others(33): Show c.757-2212_757-2211insGTGTGTATATATATAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	9/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52493216	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0006 a0005c0006t0006	a0005c0006t0006g0192 a0005c0006t0006g0192	1	138	0.0072	16	c.757 others(33): Show c.757-2212_757-2211insGTATATATATATATAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	9/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52530328	A A	AATAATAT others(9): Show AATAATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02165.hp1 NA18950.hp1 HG02056.hp2 HG02165.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021	3	230	0.0130	16	c.392 others(33): Show c.392+6390_392+6391insATATATATTATATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC5_chr6_7876517_7915788	7899532	A A	AGAGGGAG others(9): Show AGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02976.hp2 others(3): Show HG02451.hp1 HG02486.hp1 HG02976.hp2 HG03098.hp2 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0002 a0001c0001t0004 a0001c0004t0002	a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0004t0002g0015 a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0004t0002g0015	6	320	0.0188	16	c.519 others(29): Show c.519+28_519+43dupCCTCCCTCCCTCCCTC	TXNDC5	ENSG00000239264.9	transcript	ENST00000379757.9	protein_coding	3/9			chr6	TogoVar
TXNDC8_chr9_110298476_110342863	110299942	A A	AATATATA others(9): Show AATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0322 a0004c0004t0001g0322	1	354	0.0028	16	c.37 others(27): Show c.3739_*3740insATATATATATATATAT	TXNDC8	ENSG00000204193.12	transcript	ENST00000423740.7	protein_coding		3533		chr9	TogoVar
TXNDC8_chr9_110298476_110342863	110299979	A A	ATATATAT others(9): Show ATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	274	0.0036	16	c.37 others(27): Show c.3702_*3703insAAAATATATATATATA	TXNDC8	ENSG00000204193.12	transcript	ENST00000423740.7	protein_coding		3496		chr9	TogoVar
TXNDC8_chr9_110298476_110342863	110326940	G G	GCACACAC others(9): Show GCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG04228.hp2 NA19030.hp2 HG03704.hp1 HG04228.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0042	3	76	0.0395	16	c.130 others(31): Show c.130-716_130-701dupTGTGTGTGTGTGTGTG	TXNDC8	ENSG00000204193.12	transcript	ENST00000423740.7	protein_coding	2/4			chr9	TogoVar
TXNDC9_chr2_99313982_99341333	99330290	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp1 HG01099.hp2 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0106 a0001c0001t0001g0107	2	29	0.0690	16	c.190 others(33): Show c.190-2653_190-2638dupTTTTTTTTTTTTTTTT	TXNDC9	ENSG00000115514.12	transcript	ENST00000264255.8	protein_coding	2/4			chr2	TogoVar
TXNRD1_chr12_104210779_104355307	104229567	T T	TATTTTAT others(9): Show TATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03098.hp1 HG03486.hp1 HG02717.hp1 HG03098.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0005 a0001c0001t0001 a0001c0007t0005	a0001c0001t0001g0283 a0001c0007t0005g0281 a0001c0007t0005g0282 a0001c0001t0001g0283 a0001c0007t0005g0281 a0001c0007t0005g0282	3	300	0.0100	16	c.91+ others(33): Show c.91+13675_91+13690dupATTTTATTTTATTTTA	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104229598	A A	ATTTTATT others(9): Show ATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0098 a0001c0003t0003g0098	1	300	0.0033	16	c.91+ others(33): Show c.91+13708_91+13709insTATTTTATTTTATTTT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104248924	A A	ATTCTCCT others(9): Show ATTCTCCTGCCTAGCCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	300	0.0033	16	c.92- others(31): Show c.92-2602_92-2587dupTTCTCCTGCCTAGCCT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104252660	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0098 a0001c0003t0003g0100 a0001c0003t0003g0098 a0001c0003t0003g0100	2	266	0.0075	16	c.243 others(31): Show c.243+983_243+984insATATATATATATATAT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104254642	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0110 a0001c0003t0003g0110	1	295	0.0034	16	c.243 others(33): Show c.243+2965_243+2966insTATATATATATATATA	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(9): Show CTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00738.hp1 others(22): Show HG00140.hp1 HG00639.hp2 HG00738.hp1 HG01109.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01891.hp2 HG01975.hp1 HG02280.hp2 HG02559.hp1 HG02630.hp1 HG02723.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03710.hp2 HG04184.hp1 HG04228.hp2 NA18906.hp2 NA19030.hp1 NA19072.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001 a0001c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0024 others(22): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0037 a0001c0001t0001g0166 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0002t0001g0022 a0001c0002t0001g0027 a0001c0002t0001g0102 a0001c0002t0002g0048 a0001c0003t0001g0132 a0001c0003t0001g0137 a0001c0003t0001g0140 a0001c0003t0003g0114 a0001c0003t0003g0115 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0005t0001g0112 a0001c0006t0001g0276	25	37	0.6757	16	c.304 others(33): Show c.304+9189_304+9204dupTTTCTTTCTTTCTTTC	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(9): Show ATCTTTCCTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01168.hp2 HG01192.hp2 others(15): Show HG00642.hp2 HG01168.hp2 HG01192.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG02145.hp2 HG02258.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02723.hp2 HG02735.hp2 HG02976.hp2 HG03704.hp2 HG03927.hp2 NA19030.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 others(2): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0004t0004 a0001c0005t0001	a0001c0002t0001g0179 a0001c0002t0001g0185 a0001c0003t0001g0088 others(15): Show a0001c0002t0001g0179 a0001c0002t0001g0185 a0001c0003t0001g0088 a0001c0003t0001g0097 a0001c0003t0003g0113 a0001c0003t0003g0114 a0001c0003t0003g0115 a0001c0003t0003g0117 a0001c0003t0003g0121 a0001c0003t0003g0122 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0004t0004g0094 a0001c0005t0001g0111 a0001c0005t0001g0112 a0001c0005t0001g0118 a0001c0005t0001g0120	18	33	0.5455	16	c.304 others(33): Show c.304+9574_304+9575insCTTCTTTCTTTCTTTC	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267647	A A	ATCTTTCT others(9): Show ATCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01071.hp1 HG01106.hp2 others(3): Show HG00558.hp1 HG01071.hp1 HG01106.hp2 NA18945.hp1 NA18967.hp2 NA18983.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0127 a0001c0003t0001g0142 a0001c0003t0001g0144 others(3): Show a0001c0003t0001g0127 a0001c0003t0001g0142 a0001c0003t0001g0144 a0001c0003t0001g0148 a0001c0003t0001g0151 a0001c0003t0001g0152	6	21	0.2857	16	c.304 others(33): Show c.304+9608_304+9623dupTTCTTTCTTTCTTTCT	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(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	68	0.0147	16	c.414 others(33): Show c.414+1703_414+1718dupATATATATATATATAT	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(9): Show GGCGCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp1 HG01109.hp1 others(12): Show HG00140.hp1 HG01069.hp1 HG01109.hp1 HG02055.hp2 HG02615.hp2 HG02647.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03490.hp2 HG04228.hp2 NA18959.hp1 NA18962.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0003t0003 a0001c0001t0001 a0001c0001t0007 a0001c0003t0003	a0001c0001t0001g0037 a0001c0001t0001g0054 a0001c0001t0001g0167 others(12): Show a0001c0001t0001g0037 a0001c0001t0001g0054 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0193 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0216 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0268 a0001c0001t0007g0228 a0001c0003t0003g0110 a0001c0003t0003g0114	15	124	0.1210	16	c.414 others(33): Show c.414+5193_414+5194insGCGCCCCCCCCCCCCC	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	4/16			chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104302486	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	47	0.0213	16	c.415 others(33): Show c.415-8798_415-8783dupTTTTTTTTTTTTTTTT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD2_chr22_19870522_19946818	19941860	G G	GGGGCGGG others(9): Show GGGGCGGGTCCAGTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0010 a0010	a0010c0024 a0010c0024	a0010c0024t0002 a0010c0024t0002	a0010c0024t0002g0289 a0010c0024t0002g0289	1	370	0.0027	16	c.-73 others(23): Show c.-73_-58dupGGGACTGGACCCGCCC	TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding		43		chr22	TogoVar
TXN_chr9_110238810_110261507	110245618	C C	CACACACA others(9): Show CACACACACACTATATA	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18947.hp2 NA18948.hp2 others(8): Show HG02015.hp2 NA18947.hp2 NA18948.hp2 NA18980.hp1 NA18998.hp1 NA19003.hp2 NA19067.hp1 NA19075.hp1 NA19075.hp2 NA19078.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0033 a0001c0001t0001g0084 a0001c0001t0001g0255 others(7): Show a0001c0001t0001g0033 a0001c0001t0001g0084 a0001c0001t0001g0255 a0001c0001t0001g0281 a0001c0001t0001g0288 a0001c0001t0001g0307 a0001c0001t0001g0322 a0001c0001t0001g0374 a0001c0001t0001g0376 a0001c0001t0004g0399	11	324	0.0340	16	c.190 others(31): Show c.190-776_190-775insTATATAGTGTGTGTGT	TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	3/4			chr9	TogoVar
TXN_chr9_110238810_110261507	110245618	C C	CACACACA others(9): Show CACACACACTATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01981.hp2 HG01070.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0356 a0001c0001t0001g0299 a0001c0001t0001g0356	2	315	0.0063	16	c.190 others(31): Show c.190-776_190-775insTATATATAGTGTGTGT	TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	3/4			chr9	TogoVar
TXN_chr9_110238810_110261507	110245618	C C	CTATATAT others(9): Show CTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	314	0.0032	16	c.190 others(31): Show c.190-791_190-776dupTATATATATATATATA	TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	3/4			chr9	TogoVar
TXN_chr9_110238810_110261507	110252223	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG03041.hp1 others(1): Show HG01109.hp1 HG01884.hp1 HG03041.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 others(1): Show a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118	4	216	0.0185	16	c.25- others(29): Show c.25-777_25-762dupTTTTTTTTTTTTTTTT	TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	1/4			chr9	TogoVar
TYK2_chr19_10345533_10385572	10372458	C C	CTATATAT others(9): Show CTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0336 a0001c0009t0005g0336	1	302	0.0033	16	c.194 others(33): Show c.194-4056_194-4041dupTATATATATATATATA	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
TYK2_chr19_10345533_10385572	10372484	A A	ATATATAT others(9): Show ATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0321 a0001c0001t0002g0321	1	169	0.0059	16	c.194 others(33): Show c.194-4067_194-4066insAATATATATATATATA	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
TYK2_chr19_10345533_10385572	10372484	A A	ATATATAT others(9): Show ATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0311 a0001c0001t0002g0311	1	169	0.0059	16	c.194 others(33): Show c.194-4067_194-4066insAAAATATATATATATA	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
TYMS_chr18_652653_678578	667992	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp2 HG01891.hp2 others(7): Show HG01109.hp1 HG01167.hp2 HG01891.hp2 HG02451.hp2 HG02630.hp1 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0018	a0001c0001t0004g0056 a0001c0001t0004g0282 a0001c0001t0004g0283 others(7): Show a0001c0001t0004g0056 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0004g0290 a0001c0001t0006g0303 a0001c0001t0009g0079 a0001c0001t0018g0165	10	160	0.0625	16	c.455 others(33): Show c.455-1076_455-1061dupTTTTTTTTTTTTTTTT	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYRO3_chr15_41554212_41588589	41560428	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0153 a0001c0001t0003g0153	1	205	0.0049	16	c.125 others(31): Show c.125-698_125-697insTGTGTGTGTGCGCGCG	TYRO3	ENSG00000092445.12	transcript	ENST00000263798.8	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
TYRO3_chr15_41554212_41588589	41560428	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0145 a0001c0001t0003g0145	1	205	0.0049	16	c.125 others(31): Show c.125-698_125-697insTGTGTGTGTGTGCGCG	TYRO3	ENSG00000092445.12	transcript	ENST00000263798.8	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
TYRO3_chr15_41554212_41588589	41584334	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0216 a0001c0001t0076g0216	1	9	0.1111	16	c.60 others(27): Show c.6058_*6059insAAAAAAAAAAAAAAAA	TYRO3	ENSG00000092445.12	transcript	ENST00000263798.8	protein_coding		746		chr15	TogoVar
TYRP1_chr9_12688385_12715285	12703883	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	61	0.0164	16	c.108 others(33): Show c.1082-631_1082-616dupGTGTGTGTGTGTGTGT	TYRP1	ENSG00000107165.13	transcript	ENST00000388918.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
TYR_chr11_89172875_89300759	89177170	A A	AGAGAGGG others(9): Show AGAGAGGGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	230	0.0043	16	c.-78 others(25): Show c.-784_-783insGAGAGGGAGAGAGAGG	TYR	ENSG00000077498.9	transcript	ENST00000263321.6	protein_coding		704		chr11	TogoVar
TYR_chr11_89172875_89300759	89194650	T T	TTCTATCT others(9): Show TTCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03491.hp2 HG03492.hp2 HG03130.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0219 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0219	3	111	0.0270	16	c.103 others(35): Show c.1036+3251_1036+3266dupTATCTATCTATCTATC	TYR	ENSG00000077498.9	transcript	ENST00000263321.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
TYR_chr11_89172875_89300759	89202622	T T	TACACACA others(9): Show TACACACACACACAAAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01975.hp1 HG02970.hp2 others(2): Show HG01943.hp2 HG01975.hp1 HG02970.hp2 HG03209.hp2 HG03486.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0005c0007t0001g0048	5	76	0.0658	16	c.103 others(37): Show c.1036+11217_1036+11218insAACACACACACACACA	TYR	ENSG00000077498.9	transcript	ENST00000263321.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
TYR_chr11_89172875_89300759	89202622	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00597.hp2 others(21): Show HG00099.hp2 HG00597.hp1 HG00597.hp2 HG01081.hp2 HG01978.hp2 HG02055.hp1 HG02109.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02723.hp1 HG02965.hp1 HG02976.hp1 HG03579.hp2 HG03669.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18973.hp2 NA18977.hp2 NA18986.hp2 NA19043.hp2 NA19082.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(21): Show a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0147 a0001c0001t0001g0157 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0295 a0001c0001t0001g0296	24	95	0.2526	16	c.103 others(37): Show c.1036+11217_1036+11232dupACACACACACACACAC	TYR	ENSG00000077498.9	transcript	ENST00000263321.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar

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