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
TTYH1_chr19_54410464_54441904	54435876	A A	ACTGGATG others(30): Show ACTGGATGCCTGGGTCTGAGGGAGGAGGGGCGGGGGGC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03669.hp2 HG03017.hp1 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0229 a0001c0002t0010g0237 a0001c0002t0010g0229 a0001c0002t0010g0237	2	328	0.0061	37	c.131 others(52): Show c.1314+39_1314+40insCCTGGATGCCTGGGTCTGAGGGAGGAGGGG CGGGGGG		TTYH1	ENSG00000167614.14	transcript	ENST00000376530.8	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
TTYH2_chr17_74208571_74267020	74219387	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0004 a0009c0013t0004	a0009c0013t0004g0287 a0009c0013t0004g0287	1	277	0.0036	37	c.130 others(54): Show c.130-3082_130-3081insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA		TTYH2	ENSG00000141540.11	transcript	ENST00000269346.9	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
TTYH3_chr7_2626986_2669802	2648972	T T	TATGGGGC others(30): Show TATGGGGCCCGCAGTGGGGTGTGGGGCCCGCAGTGGGG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0339 a0001c0001t0001g0339	1	400	0.0025	37	c.723 others(52): Show c.723-595_723-594insATGGGGCCCGCAGTGGGGTGTGGGGCCCGC AGTGGGG		TTYH3	ENSG00000136295.16	transcript	ENST00000258796.12	protein_coding	5/13						chr7	TogoVar
TUBA1B_chr12_49122782_49136395	49123757	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	160	0.0063	37	c.42 others(48): Show c.4200_*4201insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		TUBA1B	ENSG00000123416.15	transcript	ENST00000336023.9	protein_coding					4024		chr12	TogoVar
TUBA3C_chr13_19168772_19186824	19186368	T T	TTTTTTCA others(30): Show TTTTTTCACTTTCTTCCTTTTCTTCTCTTCTCCCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	446	0.0022	37	c.-46 others(48): Show c.-4622_-4621insGAAAGGGAGAAGAGAAGAAAAGGAAGAAAGTGAA AAA		TUBA3C	ENSG00000198033.13	transcript	ENST00000400113.8	protein_coding					4545		chr13	TogoVar
TUBGCP2_chr10_133273635_133313872	133291642	T T	TCCCTCCG others(30): Show TCCCTCCGTGTCCCTCCGTGTCCATGTCCCTCCGTGTC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0074 a0001c0002t0003g0074	1	253	0.0040	37	c.121 others(54): Show c.1214+856_1214+857insGACACGGAGGGACATGGACACGGAGGGA CACGGAGGG		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TUBGCP4_chr15_43366101_43414771	43386377	A A	ATATATAT others(30): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0229 a0001c0001t0063g0229	1	149	0.0067	37	c.101 others(52): Show c.1014+48_1014+49insATATATATATATATATATTTTTTTTTTTTT TTTTTTT		TUBGCP4	ENSG00000137822.13	transcript	ENST00000564079.6	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23042110	T T	TGGGATTT others(30): Show TGGGATTTCATAACCCCACCTGGCCAGAGGTGCCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	259	0.0039	37	c.-25 others(48): Show c.-2568_-2567insCCCCGGCACCTCTGGCCAGGTGGGGTTATGAAAT CCC		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					2542		chr15	TogoVar
TUSC2_chr3_50319909_50333223	50331549	G G	GGGGAGGA others(30): Show GGGGAGGACGGGGCTCGGGAGGCCTGGTAGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	37	c.-34 others(48): Show c.-3451_-3450insACCCCCCCCTACCAGGCCTCCCGAGCCCCGTCCT CCC		TUSC2	ENSG00000114383.10	transcript	ENST00000232496.5	protein_coding					3327		chr3	TogoVar
TUSC3_chr8_15535263_15771638	15570954	G G	GTTTTTTT others(30): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18999.hp1 NA18986.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0289 a0001c0001t0001g0291	2	54	0.0370	37	c.138 others(56): Show c.138+30406_138+30407insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
TVP23A_chr16_10761675_10823794	10820486	A A	AATATATG others(30): Show AATATATGTATATGTATATATATATATATATATATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0116 a0001c0001t0011g0116	1	407	0.0025	37	c.-19 others(48): Show c.-1994_-1993insATAATATATATATATATATATATACATATACATA TAT		TVP23A	ENSG00000166676.17	transcript	ENST00000299866.13	protein_coding					1693		chr16	TogoVar
TWF1_chr12_43788723_43811317	43807191	G G	GCGCCCCC others(30): Show GCGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	380	0.0026	37	c.-94 others(46): Show c.-947_-946insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC G		TWF1	ENSG00000151239.14	transcript	ENST00000395510.7	protein_coding					875		chr12	TogoVar
TWIST2_chr2_238843085_238915534	238871032	C C	CACACACC others(30): Show CACACACCACACCCCACACACACCACACCCCATACACA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	249	0.0040	37	c.35 others(56): Show c.35+22299_*35+22300insACACACCACACCCCACACACACCACA CCCCATACACA		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1						chr2	TogoVar
TXK_chr4_48061393_48139250	48104212	A A	ATATATAT others(30): Show ATATATATTATATATAATATTATATATAATATATATTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0227 a0001c0008t0003g0227	1	360	0.0028	37	c.501 others(52): Show c.501+688_501+689insAAATATATATTATATATAATATTATATATA ATATATA		TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14						chr4	TogoVar
TXNRD1_chr12_104210779_104355307	104254644	A A	AAAAATAT others(30): Show AAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0118 a0001c0005t0001g0118	1	206	0.0049	37	c.243 others(54): Show c.243+2967_243+2968insAAATATATATATATATATATATATATAT ATATATATA		TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104254644	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0159 a0001c0003t0001g0159	1	206	0.0049	37	c.243 others(54): Show c.243+2966_243+2967insTATATATATATATATATATATATATATA TATATATAT		TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16						chr12	TogoVar
TXNRD2_chr22_19870522_19946818	19907017	C C	CGCCATGG others(30): Show CGCCATGGGTAGCAGTGACGGCTCTCAGGAGAGTGTGG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	370	0.0027	37	c.662 others(54): Show c.662+4359_662+4360insCCACACTCTCCTGAGAGCCGTCACTGCT ACCCATGGC		TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	8/17						chr22	TogoVar
TXNRD2_chr22_19870522_19946818	19907696	G G	GTAGCAGT others(30): Show GTAGCAGTGACCGCTCTCAGGAGTGTGGGTGCCGTGGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01175.hp2 HG02258.hp1 others(4): Show HG01074.hp2 HG01175.hp2 HG02258.hp1 HG02572.hp1 HG03195.hp1 HG03471.hp2 HG03516.hp2	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0008c0016 a0009c0020 a0001c0001 a0008c0016 a0009c0020	a0001c0001t0001 a0008c0016t0002 a0009c0020t0003 a0001c0001t0001 a0008c0016t0002 a0009c0020t0003	a0001c0001t0001g0303 a0001c0001t0001g0327 a0008c0016t0002g0100 others(4): Show a0001c0001t0001g0303 a0001c0001t0001g0327 a0008c0016t0002g0100 a0008c0016t0002g0101 a0008c0016t0002g0145 a0009c0020t0003g0094 a0009c0020t0003g0254	7	369	0.0190	37	c.662 others(54): Show c.662+3680_662+3681insTCCACGGCACCCACACTCCTGAGAGCGG TCACTGCTA		TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	8/17						chr22	TogoVar
TXNRD2_chr22_19870522_19946818	19907708	G G	GCTCTCAG others(30): Show GCTCTCAGGAGTGTGGGTGCCGTGGATAGCAGTGACCA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0308 a0001c0004t0002g0308	1	357	0.0028	37	c.662 others(54): Show c.662+3668_662+3669insTGGTCACTGCTATCCACGGCACCCACAC TCCTGAGAG		TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	8/17						chr22	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	AAAAATAT others(30): Show AAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	90	0.0111	37	c.124 others(56): Show c.1246-1589_1246-1588insAAATATATATATATATATATATATAT ATATATATATA		UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr19	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA19011.hp1 HG03654.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0190 a0001c0002t0001g0210 a0001c0002t0001g0190 a0001c0002t0001g0210	2	47	0.0426	37	c.-42 others(56): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT TTTTTTTTTTT		UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28						chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(30): Show AAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02258.hp2 HG02293.hp1 others(2): Show HG01928.hp2 HG02258.hp2 HG02293.hp1 HG02976.hp2 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0023 a0001c0002 a0001c0003 a0001c0023	a0001c0002t0001 a0001c0003t0001 a0001c0023t0001 a0001c0002t0001 a0001c0003t0001 a0001c0023t0001	a0001c0002t0001g0184 a0001c0003t0001g0270 a0001c0003t0001g0338 others(2): Show a0001c0002t0001g0184 a0001c0003t0001g0270 a0001c0003t0001g0338 a0001c0003t0001g0353 a0001c0023t0001g0318	5	50	0.1000	37	c.-42 others(56): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATTTTTTTTTT		UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28						chr9	TogoVar
UBE2B_chr5_134366569_134397108	134376348	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	10	0.1000	37	c.126 others(52): Show c.126-320_126-319insAAAAAAAAAAATATATATATATATATATAT ATATATA		UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2E1_chr3_23800955_23896640	23842246	T T	TGTGTGTG others(30): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	187	0.0053	37	c.203 others(56): Show c.203+30739_203+30740insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGGTG		UBE2E1	ENSG00000170142.12	transcript	ENST00000306627.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
UBE2E2_chr3_23198327_23596794	23571280	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18981.hp2 HG02074.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0145 a0001c0001t0003g0187 a0001c0001t0003g0145 a0001c0001t0003g0187	2	12	0.1667	37	c.509 others(56): Show c.509-18427_509-18426insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		UBE2E2	ENSG00000182247.11	transcript	ENST00000396703.6	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
UBE2K_chr4_39693136_39787792	39714550	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	14	0.0714	37	c.63+ others(54): Show c.63+16161_63+16162insATATATATATATATATATATATATATAT ATTTTTTTT		UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2K_chr4_39693136_39787792	39714550	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0144 a0001c0001t0003g0144	1	14	0.0714	37	c.63+ others(54): Show c.63+16161_63+16162insATATATATATATATATATATATATATTT TTTTTTTTT		UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2K_chr4_39693136_39787792	39714550	A A	ATATATAT others(30): Show ATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	14	0.0714	37	c.63+ others(54): Show c.63+16161_63+16162insATATATATATATATATATATATTTTTTT TTTTTTTTT		UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2U_chr1_64198623_64272368	64239113	A A	AGGAAGAA others(30): Show AGGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	325	0.0031	37	c.596 others(54): Show c.596-2538_596-2537insGAAGAAGAAGAAGAAGAGGAAGAGGAAG AGGAAGAGG		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE2U_chr1_64198623_64272368	64239119	A A	AGGAAGAA others(30): Show AGGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03704.hp2 HG04204.hp2 HG02738.hp2 HG03704.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0060	3	312	0.0096	37	c.596 others(54): Show c.596-2532_596-2531insGAAGAAGAAGAAGAAGAGGAAGAGGAAG AGGAAGAGG		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE2U_chr1_64198623_64272368	64239119	A A	AGGAAGAA others(30): Show AGGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03225.hp1 HG02922.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0080 a0001c0001t0003g0033 a0001c0001t0001g0080 a0001c0001t0003g0033	2	311	0.0064	37	c.596 others(54): Show c.596-2532_596-2531insGAAGAAGAAGAGGAAGAGGAAGAGGAAG AGGAAGAGG		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE2U_chr1_64198623_64272368	64239125	A A	AGGAAGAA others(30): Show AGGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0084 a0002c0003t0001g0084	1	302	0.0033	37	c.596 others(54): Show c.596-2526_596-2525insGAAGAAGAAGAAGAAGAGGAAGAGGAAG AGGAAGAGG		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
UBR3_chr2_169822454_170089131	169831127	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0168 a0001c0002t0002g0168	1	173	0.0058	37	c.545 others(54): Show c.545+3076_545+3077insATATATATATATATATATATATATATAT ATATATTTT		UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38					INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169831128	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0182 a0001c0002t0002g0182	1	267	0.0037	37	c.545 others(54): Show c.545+3076_545+3077insATATATATATATATATATATATATATAT ATATATATA		UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38						chr2	TogoVar
UBXN11_chr1_26277282_26311636	26282391	G G	GGACCGGG others(30): Show GGACCGGGGACCGGGGACTGGGCCGCCGGGACCGGGAC	frameshift_variant frameshift_variant	HIGH	NA19001.hp1 NA19001.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0001 a0002c0018t0001	a0002c0018t0001g0069 a0002c0018t0001g0069	1	368	0.0027	37	c.147 others(46): Show c.1470_1471insGTCCCGGTCCCGGCGGCCCAGTCCCCGGTCCCCGGT C	p.Pro others(5): Show p.Pro491fs	UBXN11	ENSG00000158062.21	transcript	ENST00000374222.6	protein_coding	15/15	1550/1660	1470/1563	490/520			chr1	TogoVar
UIMC1_chr5_176900006_177011779	176983972	A A	AGGAAGTG others(30): Show AGGAAGTGAGGAGCGCCTCTGCCCGGCCGCCCCGTCTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0324 a0003c0004t0001g0324	1	328	0.0030	37	c.-8- others(52): Show c.-8-1386_-8-1350dupCAGACGGGGCGGCCGGGCAGAGGCGCTCCT CACTTCC		UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	1/14						chr5	TogoVar
ULK4_chr3_41241599_41967103	41305711	T T	TGGCTGCC others(30): Show TGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01243.hp2 HG01934.hp2 others(16): Show HG01169.hp1 HG01243.hp2 HG01934.hp2 HG02257.hp1 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02818.hp2 HG02895.hp1 HG02970.hp1 HG03209.hp2 HG03540.hp2 HG04115.hp2 HG06807.hp2 NA18522.hp1 NA19043.hp1 NA19043.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0021	a0001c0001 a0002c0004 a0004c0002 others(3): Show a0001c0001 a0002c0004 a0004c0002 a0005c0006 a0005c0013 a0021c0019	a0001c0001t0001 a0001c0001t0003 a0002c0004t0002 others(6): Show a0001c0001t0001 a0001c0001t0003 a0002c0004t0002 a0004c0002t0001 a0004c0002t0002 a0004c0002t0005 a0005c0006t0004 a0005c0013t0002 a0021c0019t0003	a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0032 others(16): Show a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0003g0069 a0002c0004t0002g0015 a0004c0002t0001g0006 a0004c0002t0002g0007 a0004c0002t0002g0008 a0004c0002t0002g0009 a0004c0002t0005g0067 a0005c0006t0004g0002 a0005c0013t0002g0016 a0021c0019t0003g0071	19	69	0.2754	37	c.367 others(58): Show c.3679-56174_3679-56138dupGGGCAGAGACGCTCCTCACTTTCC AGACTGGGCAGCC		ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41506767	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAATATATATATAAATATATGTATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0018 a0018	a0018c0021 a0018c0021	a0018c0021t0001 a0018c0021t0001	a0018c0021t0001g0045 a0018c0021t0001g0045	1	21	0.0476	37	c.322 others(58): Show c.3227-43515_3227-43514insATATATACATATATTTATATATAT ATTTTTTTTTTTT		ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41841169	A A	ACTGGGAG others(30): Show ACTGGGAGGTGAGGAGCACCTCTGCCCGGCTGCCCCAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0001	a0004c0002t0001g0006 a0004c0002t0001g0006	1	70	0.0143	37	c.165 others(56): Show c.1657-5199_1657-5198insATGGGGCAGCCGGGCAGAGGTGCTCC TCACCTCCCAG		ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	17/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41841186	G G	GCCTCTGC others(30): Show GCCTCTGCCCGGCTGCCCCATCTGGGAGGTGAGGAGCA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01109.hp2 others(31): Show HG00621.hp2 HG00735.hp1 HG01109.hp2 HG01169.hp2 HG01243.hp2 HG01515.hp1 HG01891.hp1 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02622.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2	a0002 a0003 a0004 others(9): Show a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0016 a0017 a0019 a0020	a0002c0004 a0002c0009 a0003c0003 others(12): Show a0002c0004 a0002c0009 a0003c0003 a0003c0016 a0004c0002 a0005c0006 a0005c0013 a0007c0005 a0008c0010 a0009c0008 a0010c0011 a0016c0015 a0017c0012 a0019c0017 a0020c0018	a0002c0004t0002 a0002c0009t0002 a0003c0003t0001 others(14): Show a0002c0004t0002 a0002c0009t0002 a0003c0003t0001 a0003c0003t0006 a0003c0016t0001 a0004c0002t0002 a0004c0002t0005 a0005c0006t0004 a0005c0013t0002 a0007c0005t0001 a0008c0010t0002 a0009c0008t0002 a0010c0011t0002 a0016c0015t0001 a0017c0012t0001 a0019c0017t0001 a0020c0018t0001	a0002c0004t0002g0014 a0002c0004t0002g0015 a0002c0004t0002g0017 others(31): Show a0002c0004t0002g0014 a0002c0004t0002g0015 a0002c0004t0002g0017 a0002c0004t0002g0019 a0002c0009t0002g0012 a0002c0009t0002g0018 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0006g0058 a0003c0016t0001g0057 a0004c0002t0002g0007 a0004c0002t0002g0008 a0004c0002t0002g0009 a0004c0002t0005g0067 a0004c0002t0005g0068 a0005c0006t0004g0001 a0005c0006t0004g0002 a0005c0006t0004g0003 a0005c0013t0002g0016 a0007c0005t0001g0064 a0007c0005t0001g0065 a0007c0005t0001g0066 a0008c0010t0002g0004 a0008c0010t0002g0056 a0009c0008t0002g0020 a0009c0008t0002g0021 a0010c0011t0002g0010 a0010c0011t0002g0011 a0016c0015t0001g0005 a0017c0012t0001g0063 a0019c0017t0001g0022 a0020c0018t0001g0050	34	69	0.4928	37	c.165 others(56): Show c.1657-5216_1657-5215insTGCTCCTCACCTCCCAGATGGGGCAG CCGGGCAGAGG		ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	17/36						chr3	TogoVar
UNC13B_chr9_35157009_35410335	35183242	A A	AGGGCGGC others(30): Show AGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCAGGCG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03688.hp2 HG03834.hp1 HG02738.hp2 HG03688.hp2 HG03834.hp1	a0012 a0024 a0012 a0024	a0012c0014 a0024c0021 a0012c0014 a0024c0021	a0012c0014t0004 a0024c0021t0001 a0012c0014t0004 a0024c0021t0001	a0012c0014t0004g0018 a0012c0014t0004g0019 a0024c0021t0001g0020 a0012c0014t0004g0018 a0012c0014t0004g0019 a0024c0021t0001g0020	3	222	0.0135	37	c.22+ others(54): Show c.22+20941_22+20977dupCGGCCGGGCAGAGGAGCCCCTCACCTCC CAGGCGGGG		UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	1/39					INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35183260	A A	AGCCCCTC others(30): Show AGCCCCTCACCTCCCAGGCGGGGCGGCCGGGCAGAGGC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03017.hp1 HG02602.hp2 HG03017.hp1	a0001 a0009 a0001 a0009	a0001c0023 a0009c0022 a0001c0023 a0009c0022	a0001c0023t0001 a0009c0022t0001 a0001c0023t0001 a0009c0022t0001	a0001c0023t0001g0062 a0009c0022t0001g0102 a0001c0023t0001g0062 a0009c0022t0001g0102	2	220	0.0091	37	c.22+ others(54): Show c.22+20977_22+20978insCGGCCGGGCAGAGGCGCCCCTCACCTCC CAGGCGGGG		UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	1/39					INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 NA19067.hp2 HG00280.hp1 HG00735.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0138 a0001c0001t0001g0155 a0001c0001t0001g0007 a0001c0001t0001g0138 a0001c0001t0001g0155	3	30	0.1000	37	c.152 others(52): Show c.152+979_152+980insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39					INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC5D_chr8_35230475_35801540	35248078	A A	AATATATA others(30): Show AATATATATAATATATAAATAAATATTATATATAAAAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	48	0.0208	37	c.103 others(56): Show c.103+12192_103+12193insTATATATAATATATAAATAAATATTA TATATAAAATA		UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35248266	A A	AAGAAATA others(30): Show AAGAAATAGATATAATATATAAATATATGTTATATATG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp1 HG03471.hp1 HG02257.hp1 HG02559.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0002 a0001c0004t0003 a0002c0005t0018 a0001c0001t0002 a0001c0004t0003 a0002c0005t0018	a0001c0001t0002g0059 a0001c0004t0003g0046 a0002c0005t0018g0054 a0001c0001t0002g0059 a0001c0004t0003g0046 a0002c0005t0018g0054	3	56	0.0536	37	c.103 others(56): Show c.103+12380_103+12381insGAAATAGATATAATATATAAATATAT GTTATATATGA		UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35248328	A A	AAGAAATA others(30): Show AAGAAATAGATATAATATATAAGTATATGTTATATATG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02897.hp2 HG03209.hp1 others(2): Show HG02886.hp2 HG02897.hp2 HG03209.hp1 HG03486.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0002t0007 a0001c0002t0020 others(2): Show a0001c0001t0001 a0001c0002t0007 a0001c0002t0020 a0001c0004t0003 a0001c0009t0001	a0001c0001t0001g0001 a0001c0002t0007g0003 a0001c0002t0020g0002 others(2): Show a0001c0001t0001g0001 a0001c0002t0007g0003 a0001c0002t0020g0002 a0001c0004t0003g0004 a0001c0009t0001g0036	5	39	0.1282	37	c.103 others(56): Show c.103+12442_103+12443insGAAATAGATATAATATATAAGTATAT GTTATATATGA		UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC93A_chr6_167286315_167321014	167295542	C C	CGCCTCCC others(30): Show CGCCTCCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTCG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01167.hp1 HG02145.hp2 others(11): Show HG00642.hp2 HG01167.hp1 HG02145.hp2 HG02257.hp2 HG02615.hp2 HG02630.hp1 HG02723.hp2 HG02965.hp2 HG03471.hp2 HG03516.hp1 HG06807.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0008 a0015 a0008 a0015	a0008c0007 a0015c0018 a0008c0007 a0015c0018	a0008c0007t0005 a0015c0018t0005 a0008c0007t0005 a0015c0018t0005	a0008c0007t0005g0005 a0008c0007t0005g0010 a0008c0007t0005g0020 others(6): Show a0008c0007t0005g0005 a0008c0007t0005g0010 a0008c0007t0005g0020 a0008c0007t0005g0066 a0008c0007t0005g0067 a0008c0007t0005g0068 a0008c0007t0005g0069 a0015c0018t0005g0005 a0015c0018t0005g0070	14	446	0.0314	37	c.270 others(52): Show c.270-460_270-459insCTCCTCGGCCTCCCTCGTGCTCCTCGCCTC CCTCGTG		UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC93A_chr6_167286315_167321014	167295619	C C	CCCTCGTG others(30): Show CCCTCGTGCTCCTCGGCCTCCCTCGTGCTCCTCGCCTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03471.hp2 HG06807.hp2 others(2): Show HG02630.hp1 HG03471.hp2 HG06807.hp2 NA19043.hp2 NA20300.hp1	a0008 a0015 a0008 a0015	a0008c0007 a0015c0018 a0008c0007 a0015c0018	a0008c0007t0005 a0015c0018t0005 a0008c0007t0005 a0015c0018t0005	a0008c0007t0005g0005 a0015c0018t0005g0005 a0015c0018t0005g0070 a0008c0007t0005g0005 a0015c0018t0005g0005 a0015c0018t0005g0070	5	389	0.0129	37	c.270 others(52): Show c.270-399_270-398insGCCTCCCTCGTGCTCCTCGCCTGCCTCGTG CTCCTCG		UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
UQCRC2_chr16_21948361_21988660	21987176	T T	TTTGTTTT others(30): Show TTTGTTTTTTTTTTTTTTTTCTTTTCTTTTGTTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	360	0.0028	37	c.40 others(48): Show c.4005_*4006insTTGTTTTTTTTTTTTTTTTCTTTTCTTTTGTTTT TTG		UQCRC2	ENSG00000140740.11	transcript	ENST00000268379.9	protein_coding					3517		chr16	TogoVar
URB1_chr21_32306018_32398012	32361159	A A	AAGAAGAA others(30): Show AAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0005 a0004c0007t0005	a0004c0007t0005g0203 a0004c0007t0005g0203	1	18	0.0556	37	c.164 others(52): Show c.1640-37_1640-36insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTCT		URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	12/38						chr21	TogoVar

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