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
TOLLIP_chr11_1269371_1314632	1287382	GCTCCCTG others(35): Show GCTCCCTGCTGCTGCCTCCCCGCCGCAGCCTCCCCGCCGCACC	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	336	0.0030	-42	c.519 others(59): Show c.519+1200_519+1241delGGTGCGGCGGGGAGGCTGCGGCGGGGAG GCAGCAGCAGGGAG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287437	GCCTCCCC others(35): Show GCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAC	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01358.hp2 HG01516.hp2 others(1): Show HG01261.hp1 HG01358.hp2 HG01516.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0058 a0001c0001t0001g0242 a0001c0001t0001g0249 others(1): Show a0001c0001t0001g0058 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0021g0247	4	304	0.0132	-42	c.519 others(59): Show c.519+1145_519+1186delGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287498	CCCGCCGC others(35): Show CCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01433.hp1 HG02258.hp2 others(7): Show HG01109.hp2 HG01433.hp1 HG02258.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02970.hp2 HG03098.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0041 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0082	10	341	0.0293	-42	c.519 others(59): Show c.519+1084_519+1125delTGAGGCTGCGGCGGGGAGGCTGCGGCGG GGAGGCTGCGGCGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287647	CCCTCCCC others(35): Show CCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0079 a0001c0001t0011g0079	1	207	0.0048	-42	c.519 others(57): Show c.519+935_519+976delCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287829	CCCTCCCC others(35): Show CCCTCCCCGCCGCAGCCTCCCTGCCGCACCCTCTCTGCTGCAG	C C	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	295	0.0034	-42	c.519 others(57): Show c.519+753_519+794delCTGCAGCAGAGAGGGTGCGGCAGGGAGGCT GCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TP73_chr1_3647516_3741201	3679675	TGTCTCTC others(35): Show TGTCTCTCTTTGTCCCTGTCTCTCTCTGCCTTTGTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02622.hp1 HG06807.hp2 HG01981.hp1 HG02622.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0010t0001 a0001c0002t0001 a0001c0010t0001	a0001c0002t0001g0088 a0001c0002t0001g0186 a0001c0010t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0186 a0001c0010t0001g0086	3	356	0.0084	-42	c.-33 others(59): Show c.-33-2601_-33-2560delCTGTCTCTCTCTGCCTTTGTCTCTCTCC GTCTCTCTTTGTCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TPD52L1_chr6_125148773_125269407	125260940	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01258.hp2 HG01928.hp1 others(8): Show HG01081.hp1 HG01258.hp2 HG01928.hp1 HG01975.hp1 HG02451.hp2 HG03942.hp2 HG04204.hp2 NA18952.hp1 NA19067.hp1 NA19081.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0001t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0150 others(8): Show a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0150 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0002g0172 a0001c0005t0001g0213	11	318	0.0346	-42	c.487 others(59): Show c.487-1824_487-1783delGAAAGAAAGAAAAGAAAAGAAAGAAAGA AAGAAAGAAAGAAA	TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TPD52_chr8_80029745_80176564	80072360	TACATGTA others(35): Show TACATGTACACATAGATATGCGTGTATATACATGTACACATAG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	222	0.0045	-42	c.20- others(57): Show c.20-7809_20-7768delCTATGTGTACATGTATATACACGCATATCT ATGTGTACATGT	TPD52	ENSG00000076554.16	transcript	ENST00000518937.6	protein_coding	1/7			chr8	TogoVar
TPK1_chr7_144446941_144841053	144716835	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	44	0.0227	-42	c.116 others(61): Show c.116-33899_116-33858delTATATATATATATATATATATATATA TATATATATATATATA	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	3/8			chr7	TogoVar
TPRG1_chr3_189166971_189330304	189312093	CTTTGTTT others(35): Show CTTTGTTTCTTTGTTTCTTTCTTTGTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0133 a0001c0001t0007g0133	1	232	0.0043	-42	c.633 others(59): Show c.633+1556_633+1597delTTGTTTCTTTGTTTCTTTCTTTGTTTCT TTCTTTCTTTCTTT	TPRG1	ENSG00000188001.10	transcript	ENST00000345063.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TPST2_chr22_26516996_26595132	26569981	AAAAGAAA others(35): Show AAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0372 a0001c0001t0008g0372	1	151	0.0066	-42	c.-16 others(63): Show c.-161+20030_-161+20071delCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTTCTTTCTTT	TPST2	ENSG00000128294.16	transcript	ENST00000338754.9	protein_coding	1/6			chr22	TogoVar
TRAPPC9_chr8_139722725_140462744	140157326	AAAGCCTC others(35): Show AAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTTCCATTCAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03195.hp2 HG01884.hp1 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0012 a0001c0003 a0001c0012	a0001c0003t0011 a0001c0012t0001 a0001c0003t0011 a0001c0012t0001	a0001c0003t0011g0011 a0001c0012t0001g0092 a0001c0003t0011g0011 a0001c0012t0001g0092	2	50	0.0400	-42	c.255 others(63): Show c.2556+64091_2556+64132delCTGAATGGAAAAGGGAGGCTTCTG AATGGAAAAGGGAGGCTT	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRARG1_chr17_1274662_1305978	1282119	CATATGTA others(35): Show CATATGTACATATACACGCATATATGTACGTATACACGTGCAT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02109.hp1 HG02257.hp1 others(10): Show HG01433.hp1 HG02109.hp1 HG02257.hp1 HG02486.hp2 HG02717.hp1 HG02886.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03453.hp2 HG03540.hp1 NA18906.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0023 a0001c0001t0027 a0001c0001t0039 a0003c0003t0001	a0001c0001t0001g0269 a0001c0001t0004g0263 a0001c0001t0008g0027 others(8): Show a0001c0001t0001g0269 a0001c0001t0004g0263 a0001c0001t0008g0027 a0001c0001t0008g0048 a0001c0001t0008g0270 a0001c0001t0023g0268 a0001c0001t0027g0264 a0001c0001t0027g0267 a0001c0001t0039g0048 a0003c0003t0001g0265 a0003c0003t0001g0266	13	360	0.0361	-42	c.387 others(59): Show c.387+1740_387+1781delATATACACGCATATATGTACGTATACAC GTGCATATATGTAC	TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr17	TogoVar
TRIM13_chr13_49992042_50023467	50015090	AAAAAATA others(35): Show AAAAAATATATATATATATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp1 HG03041.hp2 NA21309.hp2 HG02886.hp1 HG03041.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0078 a0001c0001t0141 a0001c0001t0038 a0001c0001t0078 a0001c0001t0141	a0001c0001t0038g0097 a0001c0001t0078g0096 a0001c0001t0141g0017 a0001c0001t0038g0097 a0001c0001t0078g0096 a0001c0001t0141g0017	3	357	0.0084	-42	c.19 others(53): Show c.1928_*1969delAAAATATATATATATATATATATATATATATATA TATATATA	TRIM13	ENSG00000204977.10	transcript	ENST00000378182.4	protein_coding	2/2	1928	INFO_REALIGN_3_PRIME	chr13	TogoVar
TRIM13_chr13_49992042_50023467	50015092	AAAATATA others(35): Show AAAATATATATATATATATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02723.hp2 HG02970.hp2 HG02280.hp1 HG02723.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0081 a0001c0001t0084 a0001c0001t0079 a0001c0001t0081 a0001c0001t0084	a0001c0001t0079g0151 a0001c0001t0081g0118 a0001c0001t0084g0117 a0001c0001t0079g0151 a0001c0001t0081g0118 a0001c0001t0084g0117	3	298	0.0101	-42	c.19 others(53): Show c.1930_*1971delAATATATATATATATATATATATATATATATATA TATATATA	TRIM13	ENSG00000204977.10	transcript	ENST00000378182.4	protein_coding	2/2	1930	INFO_REALIGN_3_PRIME	chr13	TogoVar
TRIM2_chr4_153199443_153344317	153244307	CTCCTCCT others(35): Show CTCCTCCTCCTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0225 a0001c0003t0007g0225	1	261	0.0038	-42	c.31- others(59): Show c.31-26025_31-25984delCTCCTCCTCCTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTC	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TRIM37_chr17_58993202_59111880	59091531	GTATAATA others(35): Show GTATAATAATGTATAATATATTATACATTATATATATAATATA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG02071.hp1 others(13): Show HG00558.hp2 HG00673.hp1 HG02071.hp1 HG02155.hp2 NA18946.hp1 NA18951.hp1 NA18954.hp1 NA18964.hp2 NA18966.hp1 NA18995.hp2 NA19007.hp2 NA19011.hp2 NA19055.hp1 NA19081.hp1 NA19085.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0134 a0001c0001t0002g0135 others(13): Show a0001c0001t0002g0126 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0147 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0180 a0001c0001t0002g0203	16	340	0.0471	-42	c.124 others(57): Show c.124-233_124-192delTATATTATATATATAATGTATAATATATTA TACATTATTATA	TRIM37	ENSG00000108395.14	transcript	ENST00000262294.12	protein_coding	2/23			chr17	TogoVar
TRIM46_chr1_155168849_155189970	155188753	GCCTGGTG others(35): Show GCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	346	0.0029	-42	c.45 others(53): Show c.4564_*4605delCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCT GGGGGGGC	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		3784		chr1	TogoVar
TRIM62_chr1_33140399_33187043	33174897	GTGTGTGT others(35): Show GTGTGTGTGTATATATATATATACACACACACACATACATATA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0160 a0001c0001t0003g0160	1	338	0.0030	-42	c.408 others(59): Show c.408+6086_408+6127delTATATGTATGTGTGTGTGTGTATATATA TATATACACACACA	TRIM62	ENSG00000116525.14	transcript	ENST00000291416.10	protein_coding	1/4			chr1	TogoVar
TRIO_chr5_14138342_14515204	14403569	TGGTGAGG others(35): Show TGGTGAGGGTGTAGGTTGTGGTGGTGAGGGTGCAGGTTGTGAG	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03688.hp2 HG03704.hp2 others(3): Show HG03209.hp2 HG03688.hp2 HG03704.hp2 HG03942.hp1 NA18942.hp1 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0007 a0001c0002 a0001c0004 a0001c0007	a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0001c0007t0001	a0001c0002t0001g0028 a0001c0002t0002g0041 a0001c0002t0002g0042 others(3): Show a0001c0002t0001g0028 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0004t0002g0182 a0001c0007t0001g0012 a0001c0007t0001g0017	6	193	0.0311	-42	c.471 others(61): Show c.4717-2279_4717-2238delTGGTGAGGGTGTAGGTTGTGGTGGTG AGGGTGCAGGTTGTGA	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	31/56			chr5	TogoVar
TRIO_chr5_14138342_14515204	14511657	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02818.hp1 HG02647.hp1 HG02818.hp1	a0001 a0010 a0001 a0010	a0001c0004 a0010c0052 a0001c0004 a0010c0052	a0001c0004t0008 a0010c0052t0008 a0001c0004t0008 a0010c0052t0008	a0001c0004t0008g0060 a0010c0052t0008g0061 a0001c0004t0008g0060 a0010c0052t0008g0061	2	188	0.0106	-42	c.32 others(53): Show c.3236_*3277delTCTCTCTCTCTCTCTCTCTCTATATATATATATA TATATATA	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding		1454		chr5	TogoVar
TRMT10C_chr3_101556868_101571446	101563230	ATCAGCCT others(35): Show ATCAGCCTCACGAGTACCTGGGAAGTAGAAGAATCGCCCCACT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00642.hp1 others(21): Show HG00140.hp2 HG00280.hp2 HG00642.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01175.hp1 HG01255.hp1 HG01516.hp2 HG01517.hp2 HG02486.hp1 HG02615.hp1 HG02886.hp1 HG02970.hp2 HG03098.hp1 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03669.hp1 NA18906.hp2 NA19030.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0005 a0004c0004t0001g0005 a0001c0001t0001g0005 a0004c0004t0001g0005	24	428	0.0561	-42	c.-13 others(59): Show c.-13+1250_-13+1291delAGTAGAAGAATCGCCCCACTTCAGCCTC ACGAGTACCTGGGA	TRMT10C	ENSG00000174173.7	transcript	ENST00000309922.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
TRPC1_chr3_142719034_142812888	142763959	AATATATA others(35): Show AATATATATATATATATATATATATACACATACATACATACAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02027.hp1 HG02040.hp2 others(20): Show HG00621.hp1 HG02027.hp1 HG02040.hp2 HG02258.hp2 HG02886.hp1 HG03239.hp2 HG03927.hp1 NA18945.hp1 NA18950.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18982.hp2 NA18986.hp2 NA18998.hp2 NA19001.hp1 NA19010.hp2 NA19065.hp2 NA19080.hp1 NA19086.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0010 a0001c0003 a0004c0010	a0001c0003t0001 a0001c0003t0004 a0001c0003t0010 others(1): Show a0001c0003t0001 a0001c0003t0004 a0001c0003t0010 a0004c0010t0004	a0001c0003t0001g0028 a0001c0003t0004g0002 a0001c0003t0004g0007 others(16): Show a0001c0003t0001g0028 a0001c0003t0004g0002 a0001c0003t0004g0007 a0001c0003t0004g0008 a0001c0003t0004g0063 a0001c0003t0004g0065 a0001c0003t0004g0066 a0001c0003t0004g0067 a0001c0003t0004g0068 a0001c0003t0004g0069 a0001c0003t0004g0070 a0001c0003t0004g0071 a0001c0003t0004g0072 a0001c0003t0004g0073 a0001c0003t0004g0074 a0001c0003t0004g0075 a0001c0003t0004g0076 a0001c0003t0010g0027 a0004c0010t0004g0008	23	228	0.1009	-42	c.633 others(61): Show c.633-13657_633-13616delTATATATATACACATACATACATACA TATATATATATATATA	TRPC1	ENSG00000144935.17	transcript	ENST00000476941.6	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
TRPM8_chr2_233912373_234024522	233927839	CCTTCCTT others(35): Show CCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0302 a0003c0005t0004g0302	1	296	0.0034	-42	c.117 others(59): Show c.117+1189_117+1230delCCTTCCTTCCTTTCTTTCTCTTTCTTTC TTTCTTTCTTTCTT	TRPM8	ENSG00000144481.17	transcript	ENST00000324695.9	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPM8_chr2_233912373_234024522	233927882	CTTTCTTT others(35): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG01358.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0005 a0001c0009t0033 a0001c0001t0001 a0001c0001t0005 a0001c0009t0033	a0001c0001t0001g0088 a0001c0001t0005g0089 a0001c0001t0005g0090 others(1): Show a0001c0001t0001g0088 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0009t0033g0087	4	319	0.0125	-42	c.117 others(59): Show c.117+1230_117+1271delTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTCTCTCTCTCTTT	TRPM8	ENSG00000144481.17	transcript	ENST00000324695.9	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPS1_chr8_115403496_115673975	115408370	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01516.hp1 HG02257.hp2 HG01515.hp1 HG01516.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0047 a0001c0004t0020 a0001c0001t0047 a0001c0004t0020	a0001c0001t0047g0022 a0001c0004t0020g0020 a0001c0004t0020g0021 a0001c0001t0047g0022 a0001c0004t0020g0020 a0001c0004t0020g0021	3	23	0.1304	-42	c.56 others(53): Show c.5611_*5652delTATATATATATATATATATATATATATATATATA TATATATA	TRPS1	ENSG00000104447.13	transcript	ENST00000395715.8	protein_coding		125		chr8	TogoVar
TSGA13_chr7_130663643_130691545	130690416	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCCTTCTCTCTCTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	383	0.0026	-42	c.-43 others(53): Show c.-4347_-4306delGAGAGAGAGAGAGAGAGAGAGAAGGAAAGAAAGA AAGAAAGA	TSGA13	ENSG00000213265.9	transcript	ENST00000356588.8	protein_coding		3872		chr7	TogoVar
TSPAN9_chr12_3072379_3291559	3226712	GTATGTAT others(35): Show GTATGTATGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19009.hp2 NA18943.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0093 a0001c0002t0102 a0001c0001t0093 a0001c0002t0102	a0001c0001t0093g0270 a0001c0002t0102g0166 a0001c0001t0093g0270 a0001c0002t0102g0166	2	255	0.0078	-42	c.63+ others(59): Show c.63+25460_63+25501delGTATGTGTGTGTGTGTGTGTGTGTGTGT GTATATATATATAT	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3226716	GTATGTGT others(35): Show GTATGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01192.hp2 HG00639.hp1 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0045 a0001c0002t0030 a0001c0001t0045 a0001c0002t0030	a0001c0001t0045g0023 a0001c0002t0030g0072 a0001c0001t0045g0023 a0001c0002t0030g0072	2	273	0.0073	-42	c.63+ others(59): Show c.63+25464_63+25505delGTGTGTGTGTGTGTGTGTGTGTGTGTAT ATATATATATATAT	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3235207	AAAAAAAA others(35): Show AAAAAAAAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03471.hp2 HG02145.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0038 a0001c0002t0064 a0001c0001t0038 a0001c0002t0064	a0001c0001t0038g0284 a0001c0002t0064g0061 a0001c0001t0038g0284 a0001c0002t0064g0061	2	279	0.0072	-42	c.63+ others(59): Show c.63+33953_63+33994delAAAAAAAAAATATATATATATATATATA TATATATATATATA	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3235209	AAAAAAAA others(35): Show AAAAAAAAAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18942.hp2 NA18953.hp2 others(1): Show HG03098.hp2 NA18942.hp2 NA18953.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0001 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0169 a0001c0001t0001g0267 a0001c0001t0006g0139 others(1): Show a0001c0001t0001g0169 a0001c0001t0001g0267 a0001c0001t0006g0139 a0001c0001t0009g0091	4	277	0.0144	-42	c.63+ others(59): Show c.63+33955_63+33996delAAAAAAAATATATATATATATATATATA TATATATATATATA	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPYL2_chrX_53077367_53093540	53081194	AACCAAAC others(35): Show AACCAAACACCCTGGGTGCCTAAATTGCAGGCGCAGGCGGTAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	256	0.0039	-42	c.-13 others(53): Show c.-1304_-1263delACCAAACACCCTGGGTGCCTAAATTGCAGGCGCA GGCGGTAG	TSPYL2	ENSG00000184205.14	transcript	ENST00000375442.8	protein_coding		1172		chrX	TogoVar
TTC21B_chr2_165868362_165958776	165927283	TATCCTAG others(35): Show TATCCTAGTAGTTATATATATATATTATATATTATATAATATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00673.hp1 HG00323.hp2 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0117 a0002c0002t0004g0138 a0002c0002t0004g0117 a0002c0002t0004g0138	2	406	0.0049	-42	c.138 others(61): Show c.1386+1810_1386+1851delTATATTATATAATATATAATATATAT ATATAACTACTAGGAT	TTC21B	ENSG00000123607.16	transcript	ENST00000243344.8	protein_coding	11/28			chr2	TogoVar
TTC28_chr22_27973014_28684840	28591028	CACACACA others(35): Show CACACACACACACATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	187	0.0053	-42	c.381 others(61): Show c.381+38482_381+38523delATATATATATATATATATATATATAT ATATGTGTGTGTGTGT	TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	2/22			chr22	TogoVar
TTC39C_chr18_24009754_24140600	24023939	TATATATG others(35): Show TATATATGCATGTATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02698.hp2 HG02976.hp2 others(2): Show HG02055.hp1 HG02698.hp2 HG02976.hp2 HG04115.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 others(1): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014	a0001c0001t0003g0014 a0001c0001t0003g0193 a0001c0001t0009g0068 others(2): Show a0001c0001t0003g0014 a0001c0001t0003g0193 a0001c0001t0009g0068 a0001c0001t0010g0112 a0001c0001t0014g0121	5	326	0.0153	-42	c.167 others(59): Show c.167+8908_167+8949delGCATGTATATATATATATATATATATAT ATATATACATATAT	TTC39C	ENSG00000168234.13	transcript	ENST00000317571.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr18	TogoVar
TTC4_chr1_54710861_54747657	54713401	GTGGATTA others(35): Show GTGGATTATGGGGAAGGCAGAATGGATTATGGGGAAGGCAGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01243.hp2 HG01517.hp2 others(10): Show HG01074.hp1 HG01243.hp2 HG01517.hp2 HG01891.hp2 HG02300.hp1 HG02602.hp1 HG02647.hp1 HG02735.hp2 HG02809.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0052 a0001c0004t0003g0053 a0001c0004t0003g0169 others(8): Show a0001c0004t0003g0052 a0001c0004t0003g0053 a0001c0004t0003g0169 a0001c0004t0003g0170 a0001c0004t0003g0171 a0001c0004t0003g0172 a0001c0004t0003g0173 a0001c0004t0003g0174 a0001c0004t0003g0175 a0001c0004t0003g0176 a0001c0004t0003g0177	13	345	0.0377	-42	c.-25 others(53): Show c.-2507_-2466delTGGATTATGGGGAAGGCAGAATGGATTATGGGGA AGGCAGAC	TTC4	ENSG00000243725.7	transcript	ENST00000371281.4	protein_coding		2459		chr1	TogoVar
TTC7B_chr14_90519564_90821430	90695028	TATTTTTT others(35): Show TATTTTTTATTTTATTATAAAATATATTTTATTTTATTATAAA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG00639.hp2 others(66): Show HG00558.hp1 HG00621.hp1 HG00639.hp2 HG00733.hp1 HG01192.hp2 HG01243.hp2 HG01884.hp2 HG01891.hp2 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02135.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02559.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG03139.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18968.hp2 NA18970.hp1 NA18984.hp1 NA18984.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19066.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19084.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0011 a0001c0012 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0018 a0001c0001t0022 a0001c0001t0030 a0001c0001t0031 a0001c0001t0042 a0001c0001t0049 a0001c0001t0052 a0001c0001t0054 a0001c0001t0056 a0001c0001t0058 a0001c0001t0066 a0001c0001t0067 a0001c0001t0073 a0001c0001t0077 a0001c0001t0085 a0001c0001t0087 a0001c0001t0088 a0001c0001t0093 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0017 a0001c0002t0021 a0001c0002t0022 a0001c0002t0024 a0001c0002t0028 a0001c0002t0036 a0001c0002t0039 a0001c0002t0050 a0001c0002t0070 a0001c0002t0080 a0001c0002t0091 a0001c0002t0097 a0001c0005t0005 a0001c0005t0026 a0001c0005t0028 a0001c0005t0029 a0001c0005t0055 a0001c0005t0099 a0001c0011t0096 a0001c0011t0098 a0001c0012t0015 a0001c0012t0037 a0001c0013t0006	a0001c0001t0001g0060 a0001c0001t0001g0136 a0001c0001t0001g0182 others(66): Show a0001c0001t0001g0060 a0001c0001t0001g0136 a0001c0001t0001g0182 a0001c0001t0001g0198 a0001c0001t0002g0022 a0001c0001t0002g0103 a0001c0001t0002g0191 a0001c0001t0003g0048 a0001c0001t0003g0059 a0001c0001t0004g0016 a0001c0001t0008g0077 a0001c0001t0018g0176 a0001c0001t0018g0193 a0001c0001t0022g0043 a0001c0001t0030g0117 a0001c0001t0031g0046 a0001c0001t0042g0178 a0001c0001t0049g0073 a0001c0001t0052g0015 a0001c0001t0054g0018 a0001c0001t0056g0029 a0001c0001t0058g0177 a0001c0001t0066g0111 a0001c0001t0067g0023 a0001c0001t0073g0183 a0001c0001t0077g0061 a0001c0001t0085g0051 a0001c0001t0087g0172 a0001c0001t0088g0054 a0001c0001t0093g0024 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0074 a0001c0002t0001g0089 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0108 a0001c0002t0001g0137 a0001c0002t0003g0126 a0001c0002t0003g0151 a0001c0002t0004g0063 a0001c0002t0004g0065 a0001c0002t0006g0122 a0001c0002t0017g0085 a0001c0002t0017g0086 a0001c0002t0021g0079 a0001c0002t0021g0153 a0001c0002t0022g0188 a0001c0002t0024g0064 a0001c0002t0028g0045 a0001c0002t0036g0156 a0001c0002t0039g0010 a0001c0002t0050g0109 a0001c0002t0070g0091 a0001c0002t0080g0144 a0001c0002t0091g0041 a0001c0002t0097g0120 a0001c0005t0005g0052 a0001c0005t0005g0066 a0001c0005t0026g0033 a0001c0005t0028g0145 a0001c0005t0029g0093 a0001c0005t0055g0068 a0001c0005t0099g0133 a0001c0011t0096g0002 a0001c0011t0098g0140 a0001c0012t0015g0164 a0001c0012t0037g0165 a0001c0013t0006g0082	69	196	0.3520	-42	c.777 others(57): Show c.777+430_777+471delTTTATAATAAAATAAAATATATTTTATAAT AAAATAAAAAAT	TTC7B	ENSG00000165914.15	transcript	ENST00000328459.11	protein_coding	6/19			chr14	TogoVar
TTC7B_chr14_90519564_90821430	90695033	TTTATTTT others(35): Show TTTATTTTATTATAAAATATATTTTATTTTATTATAAAATATA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 NA19043.hp1 HG02896.hp2 HG02897.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0033 a0001c0002t0079 a0001c0002t0009 a0001c0002t0033 a0001c0002t0079	a0001c0002t0009g0100 a0001c0002t0033g0099 a0001c0002t0079g0101 a0001c0002t0009g0100 a0001c0002t0033g0099 a0001c0002t0079g0101	3	198	0.0152	-42	c.777 others(57): Show c.777+425_777+466delTATATTTTATAATAAAATAAAATATATTTT ATAATAAAATAA	TTC7B	ENSG00000165914.15	transcript	ENST00000328459.11	protein_coding	6/19			chr14	TogoVar
TTC8_chr14_88819651_88882988	88862541	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	42	0.0238	-42	c.909 others(59): Show c.909+1224_909+1265delATATATATATATATATATATATATATAT ATATATATATATAT	TTC8	ENSG00000165533.19	transcript	ENST00000380656.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTYH3_chr7_2626986_2669802	2661851	CCAGACGC others(35): Show CCAGACGCGTCTGCAGGCCGCTTGCCCTCCTGTCCCCTCCCCG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0161 a0001c0001t0051g0161	1	400	0.0025	-42	c.11 others(51): Show c.116_*157delACGCGTCTGCAGGCCGCTTGCCCTCCTGTCCCCTCC CCGCAG	TTYH3	ENSG00000136295.16	transcript	ENST00000258796.12	protein_coding	14/14	116	INFO_REALIGN_3_PRIME	chr7	TogoVar
TUBGCP3_chr13_112480011_112593153	112489974	TTCATCTC others(35): Show TTCATCTCATTTCATGGGATGAACAGCCTTCTATCCTTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	310	0.0032	-42	c.244 others(59): Show c.2449-319_2449-278delGAGGGAAGGATAGAAGGCTGTTCATCCC ATGAAATGAGATGA	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	20/21			chr13	TogoVar
TXNL4A_chr18_79965813_79993563	79985032	GCTCAAAG others(35): Show GCTCAAAGGTCCATGAAATTGTCTCCTGTGACGGTGTTCCTAC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0100 a0001c0001t0004g0100	1	388	0.0026	-42	c.153 others(59): Show c.153+3166_153+3207delGTAGGAACACCGTCACAGGAGACAATTT CATGGACCTTTGAG	TXNL4A	ENSG00000141759.15	transcript	ENST00000269601.10	protein_coding	1/2			chr18	TogoVar
TYMS_chr18_652653_678578	665520	TCTGCTCT others(35): Show TCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	480	0.0021	-42	c.454 others(59): Show c.454+3201_454+3242delCTGCTCTGATTTTAGTTATTTCTTGCCT TCTGCTAGCTTTTG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6			chr18	TogoVar
TYMS_chr18_652653_678578	666915	TGATGGAG others(35): Show TGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0316 a0001c0001t0007g0316	1	434	0.0023	-42	c.455 others(59): Show c.455-2139_455-2098delTGATGGAGATGGTGATGGTGATGGAGAT GGAGATGGTGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	666933	TGATGGAG others(35): Show TGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0293 a0001c0001t0002g0293	1	378	0.0026	-42	c.455 others(59): Show c.455-2109_455-2068delAGATGGTGATGGAGATGGAGATGGTGAT GGTGATGGAGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	666999	AGATGGTG others(35): Show AGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0265	1	397	0.0025	-42	c.455 others(59): Show c.455-2061_455-2020delTGATGGAGATGGAGATGGTGATGGAGAT GGTGATGGTGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667023	AGATGGTG others(35): Show AGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGT	A A	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0348 a0001c0001t0004g0348	1	356	0.0028	-42	c.455 others(59): Show c.455-2007_455-1966delTGATGGTGATGGAGATGGTGATGGTGAT GGAGATGGAGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
UBA2_chr19_34423381_34476251	34471198	GTTTCTGG others(35): Show GTTTCTGGCAATAATTTATTTTATATTTCAACTAAATTTTAAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0173 a0001c0001t0017g0173	1	318	0.0031	-42	c.19 others(53): Show c.1983_*2024delGGCAATAATTTATTTTATATTTCAACTAAATTTT AAATTTCT	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	17/17	1983	INFO_REALIGN_3_PRIME	chr19	TogoVar
UBAP2_chr9_33916693_34053887	33939813	GGGAGGAG others(35): Show GGGAGGAGGAAGGGGGGGAGGAGGGGGAGGGGGAGGAGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp2 others(81): Show HG00099.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02129.hp1 HG02132.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02602.hp2 HG02735.hp2 HG02965.hp1 HG03239.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 NA18939.hp1 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18970.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19060.hp1 NA19063.hp1 NA19067.hp1 NA19070.hp2 NA19082.hp2 NA19085.hp2 NA19090.hp2 NA19091.hp1 NA20805.hp1 NA20905.hp2	a0001 a0005 a0008 others(4): Show a0001 a0005 a0008 a0010 a0011 a0017 a0019	a0001c0002 a0001c0007 a0005c0006 others(5): Show a0001c0002 a0001c0007 a0005c0006 a0008c0009 a0010c0012 a0011c0011 a0017c0016 a0019c0022	a0001c0002t0001 a0001c0002t0002 a0001c0007t0001 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0007t0001 a0005c0006t0001 a0008c0009t0001 a0010c0012t0001 a0011c0011t0001 a0017c0016t0001 a0019c0022t0001	a0001c0002t0001g0044 a0001c0002t0001g0130 a0001c0002t0001g0131 others(81): Show a0001c0002t0001g0044 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0134 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0143 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0172 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0216 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0251 a0001c0002t0002g0157 a0001c0002t0002g0161 a0001c0002t0002g0164 a0001c0002t0002g0206 a0001c0007t0001g0144 a0001c0007t0001g0186 a0001c0007t0001g0201 a0005c0006t0001g0171 a0005c0006t0001g0173 a0005c0006t0001g0180 a0005c0006t0001g0205 a0008c0009t0001g0145 a0008c0009t0001g0147 a0008c0009t0001g0150 a0010c0012t0001g0217 a0010c0012t0001g0218 a0011c0011t0001g0132 a0011c0011t0001g0133 a0017c0016t0001g0196 a0019c0022t0001g0158	84	351	0.2393	-42	c.192 others(61): Show c.1929+1794_1929+1835delTCCCCCTCCTCCCCCTCCCCCTCCTC CCCCCCTTCCTCCTCC	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	16/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	33939816	AGGAGGAA others(35): Show AGGAGGAAGGGGGGGAGGAGGGGGAGGGGGAGGAGGGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02109.hp2 HG02896.hp1 others(4): Show HG01496.hp2 HG02109.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp2 HG03209.hp1 NA18906.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0080 a0002c0001t0002g0087 a0002c0001t0002g0099 others(4): Show a0002c0001t0002g0080 a0002c0001t0002g0087 a0002c0001t0002g0099 a0002c0001t0002g0100 a0002c0001t0002g0101 a0002c0001t0002g0102 a0002c0001t0002g0125	7	324	0.0216	-42	c.192 others(61): Show c.1929+1791_1929+1832delCCCTCCCCCTCCTCCCCCTCCCCCTC CTCCCCCCCTTCCTCC	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	16/28			chr9	TogoVar

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