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
TULP4_chr6_158307465_158516828	158337035	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0074 a0001c0013t0074	a0001c0013t0074g0221 a0001c0013t0074g0221	1	234	0.0043	24	c.252 others(43): Show c.252+22783_252+22806dupCTTTCTTTCTTTCTTTCTTTCTTT		TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
TULP4_chr6_158307465_158516828	158342947	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0012 a0001c0020t0012	a0001c0020t0012g0260 a0001c0020t0012g0260	1	7	0.1429	24	c.252 others(43): Show c.252+28695_252+28718dupGTGTGTGTGTGTGTGTGTGTGTGT		TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
TULP4_chr6_158307465_158516828	158348173	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03540.hp2 HG02647.hp1 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0233 a0001c0003t0015g0234 a0001c0003t0015g0233 a0001c0003t0015g0234	2	30	0.0667	24	c.252 others(43): Show c.252+33920_252+33921insTTTTTTTTTTTTTTTTTTTTTTTT		TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
TULP4_chr6_158307465_158516828	158385842	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02886.hp2 NA19010.hp1 HG00438.hp2 HG02886.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0014 a0001c0005t0017 a0001c0001t0002 a0001c0001t0014 a0001c0005t0017	a0001c0001t0002g0095 a0001c0001t0014g0133 a0001c0005t0017g0255 a0001c0001t0002g0095 a0001c0001t0014g0133 a0001c0005t0017g0255	3	94	0.0319	24	c.253 others(43): Show c.253-27203_253-27202insTTTTTTTTTTTTTTTTTTTTTTTT		TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
TULP4_chr6_158307465_158516828	158453485	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	92	0.0109	24	c.859 others(41): Show c.859+1218_859+1241dupAAAAAAAAAAAAAAAAAAAAAAAA		TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
TUSC3_chr8_15535263_15771638	15539345	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA19065.hp1 NA18956.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0186 a0001c0001t0001g0189	2	158	0.0127	24	c.-10 others(35): Show c.-1086_-1085insTTTTTTTTTTTTTTTTTTTTTTTT		TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding					917		chr8	TogoVar
TUSC3_chr8_15535263_15771638	15555276	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0168 a0001c0001t0010g0168	1	60	0.0167	24	c.138 others(43): Show c.138+14720_138+14743dupTTTTTTTTTTTTTTTTTTTTTTTT		TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
TUSC3_chr8_15535263_15771638	15570954	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 NA18962.hp1 others(1): Show HG01515.hp2 HG01517.hp2 NA18962.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0005g0313 others(1): Show a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0005g0313 a0001c0001t0005g0314	4	56	0.0714	24	c.138 others(43): Show c.138+30406_138+30407insTTTTTTTTTTTTTTTTTTTTTTTT		TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
TUSC3_chr8_15535263_15771638	15573202	C C	CTCTATAT others(17): Show CTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	170	0.0059	24	c.138 others(43): Show c.138+32635_138+32636insCTATATATATATATATATATATAT		TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
TUSC3_chr8_15535263_15771638	15617120	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01891.hp1 others(14): Show HG01243.hp1 HG01243.hp2 HG01891.hp1 HG02109.hp1 HG02148.hp2 HG02572.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03540.hp1 HG06807.hp2 NA18906.hp1 NA19086.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0021 a0001c0001t0023 a0001c0001t0037 a0001c0002t0004	a0001c0001t0002g0120 a0001c0001t0002g0218 a0001c0001t0002g0308 others(14): Show a0001c0001t0002g0120 a0001c0001t0002g0218 a0001c0001t0002g0308 a0001c0001t0004g0112 a0001c0001t0004g0117 a0001c0001t0004g0224 a0001c0001t0004g0228 a0001c0001t0004g0232 a0001c0001t0007g0038 a0001c0001t0007g0039 a0001c0001t0007g0040 a0001c0001t0021g0361 a0001c0001t0023g0238 a0001c0001t0037g0204 a0001c0002t0004g0115 a0001c0002t0004g0118 a0001c0002t0004g0119	17	109	0.1560	24	c.139 others(41): Show c.139-5947_139-5946insGTGTGTGTGTGTGTGTGTGTGTGT		TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
TUSC3_chr8_15535263_15771638	15738827	C C	CTTTTTTT others(17): Show CTTTTTTTTTTCTTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0031 a0002c0003t0031	a0002c0003t0031g0122 a0002c0003t0031g0122	1	167	0.0060	24	c.863 others(41): Show c.863-4701_863-4700insCTTTCTTTTTTTTTTTTTTTTTTT		TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
TVP23A_chr16_10761675_10823794	10803268	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18951.hp2 NA18962.hp1 others(4): Show HG01175.hp1 NA18951.hp2 NA18962.hp1 NA18965.hp2 NA18969.hp2 NA18995.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0019	a0001c0001t0001g0054 a0001c0001t0001g0310 a0001c0001t0002g0270 others(4): Show a0001c0001t0001g0054 a0001c0001t0001g0310 a0001c0001t0002g0270 a0001c0001t0002g0313 a0001c0001t0004g0059 a0001c0001t0004g0108 a0001c0001t0019g0309	7	368	0.0190	24	c.89+ others(41): Show c.89+14834_89+14835insGCACACACACACACACACACACAC		TVP23A	ENSG00000166676.17	transcript	ENST00000299866.13	protein_coding	2/7						chr16	TogoVar
TVP23B_chr17_18776183_18811714	18783075	C C	CTATTTAT others(17): Show CTATTTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01168.hp1 HG01952.hp1 others(4): Show HG01123.hp2 HG01168.hp1 HG01952.hp1 HG01952.hp2 HG02273.hp1 HG03490.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 others(3): Show a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0005g0049 a0001c0001t0005g0321	7	106	0.0660	24	c.12+ others(39): Show c.12+1786_12+1787insTATTTATTTATTTATTTATTTATT		TVP23B	ENSG00000171928.14	transcript	ENST00000307767.13	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
TWIST1_chr7_19110468_19122636	19117045	T T	TGCCGCCG others(17): Show TGCCGCCGCCGCCGCCCGCGCCGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01243.hp1 HG01243.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0046 a0004c0009t0003g0046	1	420	0.0024	24	c.253 others(31): Show c.253_276dupGGCGGCGCGGGCGGCGGCGGCGGC	p.Gly others(35): Show p.Gly92_Ser93insGlyGlyAlaGlyGlyGlyGlyGly	TWIST1	ENSG00000122691.13	transcript	ENST00000242261.6	protein_coding	1/2	591/1630	276/609	92/202			chr7	TogoVar
TXLNG_chrX_16781466_16849519	16782389	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00735.hp1 NA18943.hp1 others(7): Show HG00673.hp1 HG00735.hp1 NA18943.hp1 NA18984.hp1 NA18986.hp1 NA19000.hp1 NA19002.hp1 NA19067.hp1 NA19085.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 others(7): Show a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0219 a0001c0001t0001g0231 a0001c0001t0001g0241 a0001c0001t0003g0011	10	19	0.5263	24	c.-40 others(35): Show c.-4099_-4098insATATATATATATATATATATATAT		TXLNG	ENSG00000086712.13	transcript	ENST00000380122.10	protein_coding					4076		chrX	TogoVar
TXLNG_chrX_16781466_16849519	16830830	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01175.hp1 HG01256.hp1 others(7): Show HG00733.hp2 HG01175.hp1 HG01256.hp1 HG02145.hp1 HG02523.hp1 HG02523.hp2 HG03041.hp1 HG03471.hp1 NA19000.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0018	a0001c0001t0001g0120 a0001c0001t0001g0220 a0001c0001t0001g0233 others(7): Show a0001c0001t0001g0120 a0001c0001t0001g0220 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0003g0136 a0001c0001t0003g0150 a0001c0001t0003g0178 a0001c0001t0006g0244 a0001c0001t0009g0223 a0001c0001t0018g0087	10	20	0.5000	24	c.864 others(41): Show c.864+1093_864+1116dupGTGTGTGTGTGTGTGTGTGTGTGT		TXLNG	ENSG00000086712.13	transcript	ENST00000380122.10	protein_coding	5/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
TXNDC16_chr14_52425596_52557505	52529542	T T	TTATATAT others(17): Show TTATATATATATATATAATGCCTAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0096	1	236	0.0042	24	c.392 others(41): Show c.392+7176_392+7177insTTAGGCATTATATATATATATATA		TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20						chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52530263	T T	TAATATAT others(17): Show TAATATATATATTATTATATAATAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01346.hp2 HG02451.hp2 others(6): Show HG01074.hp1 HG01346.hp2 HG02451.hp2 HG02486.hp2 HG02922.hp2 HG03139.hp1 HG03540.hp2 HG06807.hp1 NA19240.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0135 a0003c0004t0004g0136 a0003c0004t0004g0137 others(6): Show a0003c0004t0004g0135 a0003c0004t0004g0136 a0003c0004t0004g0137 a0003c0004t0004g0138 a0003c0004t0004g0139 a0003c0004t0004g0140 a0003c0004t0004g0141 a0003c0004t0004g0142 a0003c0004t0004g0143	9	228	0.0395	24	c.392 others(41): Show c.392+6455_392+6456insTTATTATATAATAATATATATATT		TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20						chr14	TogoVar
TXNDC8_chr9_110298476_110342863	110299979	A A	ATATATAT others(17): Show ATATATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	274	0.0036	24	c.37 others(35): Show c.3702_*3703insAAAAAAAAAATATATATATATATA		TXNDC8	ENSG00000204193.12	transcript	ENST00000423740.7	protein_coding					3496		chr9	TogoVar
TXNDC9_chr2_99313982_99341333	99330290	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	28	0.0357	24	c.190 others(41): Show c.190-2661_190-2638dupTTTTTTTTTTTTTTTTTTTTTTTT		TXNDC9	ENSG00000115514.12	transcript	ENST00000264255.8	protein_coding	2/4						chr2	TogoVar
TXNDC9_chr2_99313982_99341333	99338922	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01496.hp1 HG03927.hp1 HG01358.hp2 HG01496.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	3	52	0.0577	24	c.-27 others(35): Show c.-2717_-2716insTATATATATATATATATATATACA		TXNDC9	ENSG00000115514.12	transcript	ENST00000264255.8	protein_coding					2590		chr2	TogoVar
TXNDC9_chr2_99313982_99341333	99338993	A A	AATATATA others(17): Show AATATATATATATACAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG03486.hp2 NA18991.hp1 HG02258.hp2 HG03486.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0051 a0001c0001t0001g0081 a0001c0001t0001g0082	3	243	0.0123	24	c.-27 others(35): Show c.-2788_-2787insATATATATTTGTATATATATATAT		TXNDC9	ENSG00000115514.12	transcript	ENST00000264255.8	protein_coding					2661		chr2	TogoVar
TXNRD1_chr12_104210779_104355307	104254642	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA20752.hp1 HG01168.hp2 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0003 a0001c0005t0001 a0001c0003t0003 a0001c0005t0001	a0001c0003t0003g0121 a0001c0005t0001g0120 a0001c0003t0003g0121 a0001c0005t0001g0120	2	296	0.0068	24	c.243 others(41): Show c.243+2965_243+2966insTATATATATATATATATATATATA		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(17): Show AAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	206	0.0049	24	c.243 others(41): Show c.243+2967_243+2968insAAAAAAAAAAAAAATATATATATA		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(17): Show AAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0123 a0001c0003t0003g0123	1	206	0.0049	24	c.243 others(41): Show c.243+2967_243+2968insAATATATATATATATATATATATA		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(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00438.hp1 others(37): Show HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00639.hp1 HG00741.hp2 HG01071.hp1 HG01256.hp1 HG01496.hp2 HG01516.hp1 HG01891.hp1 HG02109.hp2 HG02148.hp1 HG02258.hp1 HG02258.hp2 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03195.hp2 HG03209.hp2 HG04204.hp1 HG06807.hp1 NA18947.hp2 NA18959.hp1 NA18961.hp2 NA18963.hp2 NA18980.hp1 NA18989.hp1 NA19007.hp1 NA19011.hp2 NA19065.hp2 NA19074.hp2 NA19085.hp1 NA19085.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0010	a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0004 a0001c0004t0006 a0001c0005t0001 a0001c0010t0002	a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0033 others(37): Show a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0083 a0001c0001t0001g0170 a0001c0001t0001g0192 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0254 a0001c0001t0001g0283 a0001c0001t0010g0008 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0183 a0001c0002t0001g0186 a0001c0002t0001g0189 a0001c0002t0002g0051 a0001c0002t0002g0056 a0001c0002t0002g0067 a0001c0002t0002g0077 a0001c0002t0002g0081 a0001c0002t0002g0085 a0001c0003t0001g0128 a0001c0003t0001g0139 a0001c0003t0001g0142 a0001c0003t0001g0148 a0001c0003t0001g0160 a0001c0003t0001g0161 a0001c0004t0004g0094 a0001c0004t0006g0090 a0001c0005t0001g0099 a0001c0010t0002g0021	40	52	0.7692	24	c.304 others(41): Show c.304+9181_304+9204dupTTTCTTTCTTTCTTTCTTTCTTTC		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(17): Show ATCTTTCCTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02818.hp2 HG02738.hp1 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0172 a0001c0002t0001g0162 a0001c0002t0001g0172	2	17	0.1176	24	c.304 others(41): Show c.304+9574_304+9575insCTTCTTTCTTTCTTTCTTTCTTTC		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(17): Show ATCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0132 a0001c0003t0001g0132	1	16	0.0625	24	c.304 others(41): Show c.304+9600_304+9623dupTTCTTTCTTTCTTTCTTTCTTTCT		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(17): Show GGCGCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	110	0.0091	24	c.414 others(41): Show c.414+5193_414+5194insGCGCCCCCCCCCCCCCCCCCCCCC		TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	4/16						chr12	TogoVar
TXN_chr9_110238810_110261507	110245618	C C	CACACACA others(17): Show CACACACACACTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18952.hp2 NA18967.hp1 others(3): Show HG00609.hp2 NA18952.hp2 NA18967.hp1 NA18993.hp1 NA18998.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0272 others(3): Show a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0272 a0001c0001t0001g0345 a0001c0001t0001g0371 a0001c0001t0001g0372	6	319	0.0188	24	c.190 others(39): Show c.190-776_190-775insTATATATATATATAGTGTGTGTGT		TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	3/4						chr9	TogoVar
TYK2_chr19_10345533_10385572	10377837	C C	CGTGGGTG others(17): Show CGTGGGTGGATGGATGGGTGGGTGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01192.hp1 HG01361.hp2 others(20): Show HG00140.hp2 HG01192.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02647.hp2 HG02896.hp2 HG02897.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp2 HG03491.hp1 HG03688.hp1 HG03834.hp1 HG04199.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0002 a0001c0018t0002 a0001c0001t0002 a0001c0018t0002	a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 others(20): Show a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0314 a0001c0001t0002g0318 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0343 a0001c0018t0002g0315	23	374	0.0615	24	c.193 others(39): Show c.193+353_193+376dupCCACCCACCCATCCATCCACCCAC		TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24						chr19	TogoVar
TYMS_chr18_652653_678578	667005	T T	TGATGGTG others(17): Show TGATGGTGATGGTGATGGTGATGGA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	438	0.0023	24	c.455 others(41): Show c.455-2056_455-2055insTGATGGTGATGGAGATGGTGATGG		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667029	T T	TGATGGCG others(17): Show TGATGGCGATGGAGATGGAGATGGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0098 a0001c0001t0004g0098	1	425	0.0024	24	c.455 others(41): Show c.455-2038_455-2037insCGATGGAGATGGAGATGGAGATGG		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
TYR_chr11_89172875_89300759	89202622	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG02165.hp1 others(26): Show HG00140.hp2 HG00642.hp1 HG02165.hp1 HG02738.hp1 HG02922.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp2 NA18940.hp1 NA18943.hp2 NA18960.hp2 NA18961.hp2 NA18967.hp2 NA18969.hp1 NA18983.hp1 NA18986.hp1 NA18992.hp1 NA18995.hp2 NA19001.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19068.hp2 NA19070.hp2 NA19082.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0001t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0001g0005 a0001c0001t0001g0074 a0001c0001t0001g0084 others(25): Show a0001c0001t0001g0005 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0124 a0001c0001t0001g0236 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0270 a0001c0001t0002g0208 a0001c0006t0001g0082	29	100	0.2900	24	c.103 others(45): Show c.1036+11209_1036+11232dupACACACACACACACACACACACAC		TYR	ENSG00000077498.9	transcript	ENST00000263321.6	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
TYR_chr11_89172875_89300759	89226049	T T	TACTTTAA others(17): Show TACTTTAAAAAGTGTGAGAGTATAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	304	0.0033	24	c.103 others(43): Show c.1037-1753_1037-1730dupATACACTTTAAAAAGTGTGAGAGT		TYR	ENSG00000077498.9	transcript	ENST00000263321.6	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
TYSND1_chr10_70132981_70151700	70133098	A A	AAGAGAGA others(17): Show AAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0003 a0001c0003t0003g0003	1	49	0.0204	24	c.68 others(35): Show c.6825_*6826insCTCTCTCTCTCTCTCTCTCTCTCT		TYSND1	ENSG00000156521.14	transcript	ENST00000287078.7	protein_coding					4882		chr10	TogoVar
TYSND1_chr10_70132981_70151700	70149547	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02976.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0006 a0002c0001t0001g0006	3	27	0.1111	24	c.-29 others(35): Show c.-2962_-2961insAAAAAAAAAAAAAAAAAAAAAAAA		TYSND1	ENSG00000156521.14	transcript	ENST00000287078.7	protein_coding					2848		chr10	TogoVar
TYW1B_chr7_72569513_72833200	72632285	G G	GTATATAT others(17): Show GTATATATATAATATATATATATTA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0177 a0004c0005t0001g0177	1	152	0.0066	24	c.150 others(43): Show c.1507-3289_1507-3288insTAATATATATATATTATATATATA		TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13						chr7	TogoVar
TYW1B_chr7_72569513_72833200	72830106	C C	CTGTCATA others(17): Show CTGTCATAGTTGTGGGTACATCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	284	0.0035	24	c.-20 others(35): Show c.-2032_-2031insCCAGATGTACCCACAACTATGACA		TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding					1907		chr7	TogoVar
TYW1_chr7_66991833_67244514	67112100	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0301 a0001c0002t0003g0301	1	88	0.0114	24	c.156 others(43): Show c.1563-5360_1563-5359insAAAAAAAAAAAAAAAAAAAAAAAA		TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67160522	G G	GTATACAT others(17): Show GTATACATATACATATACATATACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0314 a0001c0002t0003g0314	1	124	0.0081	24	c.169 others(45): Show c.1699-22579_1699-22556dupTATACATATACATATACATATACA		TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	13/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67180424	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	279	0.0036	24	c.169 others(43): Show c.1699-2702_1699-2701insTATATATATATATATATATATATT		TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	13/15						chr7	TogoVar
TYW1_chr7_66991833_67244514	67210764	G G	GTCCGTCC others(17): Show GTCCGTCCATCCATCCATCCATCCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG01993.hp2 others(8): Show HG00639.hp2 HG01109.hp1 HG01993.hp2 HG02559.hp1 HG02717.hp1 HG02886.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 NA18522.hp1 NA19043.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0012 a0003c0005t0002g0195 a0003c0005t0002g0196 others(8): Show a0003c0005t0002g0012 a0003c0005t0002g0195 a0003c0005t0002g0196 a0003c0005t0002g0197 a0003c0005t0002g0198 a0003c0005t0002g0199 a0003c0005t0002g0200 a0003c0005t0002g0201 a0003c0005t0002g0202 a0003c0005t0002g0203 a0003c0005t0002g0204	11	266	0.0414	24	c.197 others(45): Show c.1977+15430_1977+15431insGTCCATCCATCCATCCATCCATCC		TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67211150	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0248 a0002c0003t0002g0248	1	84	0.0119	24	c.197 others(45): Show c.1977+15831_1977+15854dupGTGTGTGTGTGTGTGTGTGTGTGT		TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67241316	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01074.hp1 HG01255.hp2 others(3): Show HG00738.hp2 HG01074.hp1 HG01255.hp2 HG01361.hp2 HG01943.hp2 HG02148.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0002 a0002c0004t0002 a0002c0003t0002 a0002c0004t0002	a0002c0003t0002g0005 a0002c0004t0002g0283 a0002c0004t0002g0302 others(3): Show a0002c0003t0002g0005 a0002c0004t0002g0283 a0002c0004t0002g0302 a0002c0004t0002g0306 a0002c0004t0002g0308 a0002c0004t0002g0358	6	282	0.0213	24	c.27 others(35): Show c.2787_*2788insAAAAAAAAAAAAAAAAAAAAAAAA		TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding					1803		chr7	TogoVar
UACA_chr15_70649554_70768558	70700303	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0002 a0010c0018t0002	a0010c0018t0002g0041 a0010c0018t0002g0041	1	308	0.0032	24	c.79- others(37): Show c.79-644_79-643insCATATATATATATATATATATATA		UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18						chr15	TogoVar
UACA_chr15_70649554_70768558	70700318	T T	TATATATA others(17): Show TATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02257.hp2 HG00733.hp1 HG02257.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0003 a0001c0004t0001 a0001c0004t0003	a0001c0004t0001g0015 a0001c0004t0003g0267 a0001c0004t0001g0015 a0001c0004t0003g0267	2	265	0.0075	24	c.79- others(37): Show c.79-659_79-658insGTGTGTGTATATATATATATATAT		UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18						chr15	TogoVar
UACA_chr15_70649554_70768558	70712051	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0058 a0001c0003t0002g0059 a0001c0003t0002g0058 a0001c0003t0002g0059	2	246	0.0081	24	c.79- others(41): Show c.79-12392_79-12391insATATATATATATATATATATATAT		UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18						chr15	TogoVar
UACA_chr15_70649554_70768558	70749698	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0004 a0005c0009t0004	a0005c0009t0004g0257 a0005c0009t0004g0257	1	82	0.0122	24	c.78+ others(41): Show c.78+13631_78+13632insTTTTTTTTTTTTTTTTTTTTTTTT		UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18						chr15	TogoVar
UBA2_chr19_34423381_34476251	34456100	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	157	0.0064	24	c.124 others(43): Show c.1245+1549_1245+1550insTTTTTTTTTTTTTTTTTTTTTTTT		UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr19	TogoVar

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