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
TRAPPC9_chr8_139722725_140462744	140112322	AAGAATTC others(36): Show AAGAATTCCAGACGATGGTGGGACAGGTGCGAGGAGAGGAATGG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0094 a0001c0004t0004g0094	1	96	0.0104	-43	c.255 others(64): Show c.2557-88286_2557-88244delCCATTCCTCTCCTCGCACCTGTCC CACCATCGTCTGGAATTCT	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRAPPC9_chr8_139722725_140462744	140157001	CTTTTCCA others(36): Show CTTTTCCATTCAGAAGCCTCCCTTTTCCATTCAAAAGCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0026 a0001c0003t0014g0026	1	80	0.0125	-43	c.255 others(64): Show c.2556+64415_2556+64457delAGGGAGGCTTTTGAATGGAAAAGG GAGGCTTCTGAATGGAAAA	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRAPPC9_chr8_139722725_140462744	140157188	CTTTTCCA others(36): Show CTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA20300.hp2 HG01109.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0014 a0001c0013t0001 a0001c0003t0014 a0001c0013t0001	a0001c0003t0014g0026 a0001c0013t0001g0095 a0001c0003t0014g0026 a0001c0013t0001g0095	2	78	0.0256	-43	c.255 others(64): Show c.2556+64228_2556+64270delAGGGAGGCTTTTGAATGGAAAAGG GAGGCTTTTGAATGGAAAA	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRAPPC9_chr8_139722725_140462744	140157314	CTTTTCCA others(36): Show CTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAGAAGCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0008 a0001c0002t0003g0008	1	85	0.0118	-43	c.255 others(64): Show c.2556+64102_2556+64144delAGGGAGGCTTCTGAATGGAAAAGG GAGGCTTTTGAATGGAAAA	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRIM5_chr11_5658195_5690074	5689673	GTAGCATT others(36): Show GTAGCATTACTTTCCCCAGGGTTTATTGTTATGTAAGTTCTTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0065 a0001c0002t0012g0065	1	444	0.0023	-43	c.-49 others(54): Show c.-4910_-4868delACAAGAACTTACATAACAATAAACCCTGGGGAAA GTAATGCTA	TRIM5	ENSG00000132256.20	transcript	ENST00000380034.8	protein_coding		4600		chr11	TogoVar
TRIO_chr5_14138342_14515204	14474451	TGTGGGTT others(36): Show TGTGGGTTTTTTGTGAAGAGTGACTGAGTTAATACTTTTACCTC	T T	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18979.hp1 NA18979.hp2 others(1): Show NA18950.hp2 NA18979.hp1 NA18979.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0002t0001g0016 others(1): Show a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0002t0001g0016 a0001c0003t0001g0150	4	196	0.0204	-43	c.608 others(60): Show c.6083+395_6083+437delCTCGTGGGTTTTTTGTGAAGAGTGACTG AGTTAATACTTTTAC	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	40/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP11_chr14_91960991_92045059	92042216	AATGGGCG others(36): Show AATGGGCGATGTTCCTCAGGGCTGCTTCGAGCGGTATTAGGGGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	362	0.0028	-43	c.-25 others(54): Show c.-2574_-2532delACCCCTAATACCGCTCGAAGCAGCCCTGAGGAAC ATCGCCCAT	TRIP11	ENSG00000100815.12	transcript	ENST00000267622.8	protein_coding		2158		chr14	TogoVar
TSNARE1_chr8_142207080_142408182	142221718	CACTCATT others(36): Show CACTCATTCACTCACTCATTCACTCACTCACTCACTCATTCACT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00423.hp1 others(80): Show HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG03017.hp2 HG03098.hp2 HG03225.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18947.hp2 NA18954.hp1 NA18954.hp2 NA18963.hp2 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA19004.hp2 NA19030.hp1 NA19043.hp2 NA19074.hp1 NA19077.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0002c0002 a0002c0014 others(9): Show a0001c0001 a0002c0002 a0002c0014 a0003c0003 a0004c0004 a0004c0010 a0005c0005 a0005c0009 a0006c0006 a0007c0007 a0008c0008 a0009c0019	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(16): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0014t0001 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0004c0004t0002 a0004c0010t0001 a0005c0005t0001 a0005c0005t0002 a0005c0009t0002 a0006c0006t0001 a0006c0006t0002 a0007c0007t0001 a0007c0007t0002 a0008c0008t0002 a0009c0019t0002	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0021 others(80): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0220 a0001c0001t0002g0009 a0001c0001t0002g0050 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0232 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0142 a0002c0002t0001g0154 a0002c0002t0001g0157 a0002c0002t0001g0162 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0170 a0002c0002t0001g0179 a0002c0002t0001g0184 a0002c0002t0001g0210 a0002c0002t0001g0213 a0002c0002t0001g0216 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0002g0004 a0002c0002t0002g0145 a0002c0002t0002g0177 a0002c0002t0002g0188 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0203 a0002c0002t0002g0217 a0002c0014t0001g0161 a0003c0003t0001g0107 a0003c0003t0001g0119 a0003c0003t0002g0099 a0003c0003t0002g0109 a0003c0003t0002g0110 a0003c0003t0002g0123 a0003c0003t0002g0138 a0004c0004t0001g0092 a0004c0004t0001g0128 a0004c0004t0001g0129 a0004c0004t0001g0131 a0004c0004t0001g0132 a0004c0004t0002g0227 a0004c0010t0001g0144 a0005c0005t0001g0218 a0005c0005t0002g0148 a0005c0009t0002g0235 a0006c0006t0001g0159 a0006c0006t0002g0221 a0006c0006t0002g0228 a0006c0006t0002g0229 a0006c0006t0002g0237 a0007c0007t0001g0012 a0007c0007t0002g0003 a0007c0007t0002g0033 a0007c0007t0002g0039 a0007c0007t0002g0040 a0007c0007t0002g0041 a0007c0007t0002g0230 a0008c0008t0002g0195 a0008c0008t0002g0197 a0008c0008t0002g0200 a0008c0008t0002g0205 a0008c0008t0002g0206 a0008c0008t0002g0207 a0009c0019t0002g0122	83	236	0.3517	-43	c.11 others(60): Show c.11+7712_*11+7754delAGTGAATGAGTGAGTGAGTGAGTGAATG AGTGAGTGAATGAGT	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	13/13			chr8	TogoVar
TSPAN15_chr10_69446465_69512666	69455559	CTTTCTTT others(36): Show CTTTCTTTCTTTCTCTTTTCTTTCTTTCTTTCTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0315 a0001c0001t0004g0315	1	298	0.0034	-43	c.96+ others(58): Show c.96+3871_96+3913delTTCTTTCTTTCTCTTTTCTTTCTTTCTTTC TCTTTCTTTCTTT	TSPAN15	ENSG00000099282.10	transcript	ENST00000373290.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
TSPAN9_chr12_3072379_3291559	3235206	AAAAAAAA others(36): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	284	0.0035	-43	c.63+ others(60): Show c.63+33952_63+33994delAAAAAAAAAAATATATATATATATATAT ATATATATATATATA	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TTC39A_chr1_51282258_51335562	51309635	TTTGGATT others(36): Show TTTGGATTATTTGTGGTTTTTACAACAAGCAGGTATTTATCACA	T T	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19000.hp2 NA19065.hp1 NA18954.hp2 NA19000.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0244 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0244	3	308	0.0097	-43	c.424 others(58): Show c.424-353_424-311delTGTGATAAATACCTGCTTGTTGTAAAAACC ACAAATAATCCAA	TTC39A	ENSG00000085831.16	transcript	ENST00000680483.1	protein_coding	5/17			chr1	TogoVar
TTC6_chr14_37590629_37847717	37651399	ATATATAT others(36): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0095 a0004c0004t0003g0095	1	218	0.0046	-43	c.939 others(62): Show c.939+28398_939+28440delATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTT	TTC6	ENSG00000139865.17	transcript	ENST00000553443.6	protein_coding	3/32		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL8_chr22_50013575_50063298	50028645	CCCCATCA others(36): Show CCCCATCACACCATCCTAAAGACCCCCACACACACTCGTAAAGA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18906.hp2 HG03098.hp2 NA18906.hp2	a0004 a0021 a0004 a0021	a0004c0004 a0021c0013 a0004c0004 a0021c0013	a0004c0004t0001 a0021c0013t0001 a0004c0004t0001 a0021c0013t0001	a0004c0004t0001g0190 a0021c0013t0001g0061 a0004c0004t0001g0190 a0021c0013t0001g0061	2	211	0.0095	-43	c.225 others(62): Show c.2251+1742_2251+1784delTCTTTACGAGTGTGTGTGGGGGTCTT TAGGATGGTGTGATGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028975	CCCCCACA others(36): Show CCCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02071.hp1 HG03704.hp2 others(4): Show HG01109.hp2 HG02071.hp1 HG03704.hp2 NA18945.hp1 NA18960.hp1 NA19000.hp2 NA19067.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0006c0023 a0001c0001 a0006c0006 a0006c0023	a0001c0001t0001 a0006c0006t0002 a0006c0023t0002 a0001c0001t0001 a0006c0006t0002 a0006c0023t0002	a0001c0001t0001g0052 a0001c0001t0001g0099 a0006c0006t0002g0012 others(4): Show a0001c0001t0001g0052 a0001c0001t0001g0099 a0006c0006t0002g0012 a0006c0006t0002g0014 a0006c0006t0002g0158 a0006c0006t0002g0175 a0006c0023t0002g0108	7	207	0.0338	-43	c.225 others(62): Show c.2251+1412_2251+1454delTCTTCAGGATGGTGTGATGGGGTCTT TACGAGTGTGTGTGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029009	ATCCTGAA others(36): Show ATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03491.hp2 HG01106.hp1 HG03491.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0017 a0004c0004t0002g0037 a0004c0004t0002g0017 a0004c0004t0002g0037	2	133	0.0150	-43	c.225 others(62): Show c.2251+1378_2251+1420delCGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGGTCTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029029	CCTCGTAA others(36): Show CCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACA	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	202	0.0050	-43	c.225 others(62): Show c.2251+1358_2251+1400delTGTGTGTGGGGTCTTCAGGACGGTGT GATGGGGTCTTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029224	GTCCTGAA others(36): Show GTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	179	0.0056	-43	c.225 others(62): Show c.2251+1163_2251+1205delTGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGGTCTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TUBB3_chr16_89918342_89941097	89919013	AATCCCTG others(36): Show AATCCCTGAGCCCAGGCGGTAGATGCCAGGAGGTGTCTGGACTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	396	0.0025	-43	c.-43 others(54): Show c.-4388_-4346delATCCCTGAGCCCAGGCGGTAGATGCCAGGAGGTG TCTGGACTG	TUBB3	ENSG00000258947.8	transcript	ENST00000315491.12	protein_coding		4328		chr16	TogoVar
TUBB8B_chr18_42221_54615	49909	ATATGCAC others(36): Show ATATGCACGGAGTGCCTTTGCACCTGTCCTAGATTGATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	390	0.0026	-43	c.-39 others(52): Show c.-395_-353delAAAAATATCAATCTAGGACAGGTGCAAAGGCACTCC GTGCATA	TUBB8B	ENSG00000173213.11	transcript	ENST00000308911.9	protein_coding		295		chr18	TogoVar
TUBGCP3_chr13_112480011_112593153	112489082	ACCCACCA others(36): Show ACCCACCACAGTGGAGCACAGGGGCCACCCCCAGGTCCCCACAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02451.hp1 others(8): Show HG01243.hp2 HG01891.hp2 HG02451.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0280 others(8): Show a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299	11	310	0.0355	-43	c.256 others(60): Show c.2565+456_2565+498delATGTGGGGACCTGGGGGTGGCCCCTGTG CTCCACTGTGGTGGG	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	21/21			chr13	TogoVar
TUBGCP3_chr13_112480011_112593153	112489214	CCACAGGG others(36): Show CCACAGGGGAGCACAGGGGCCACGCCCAGGTCCCCACACCCCAA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19087.hp1 HG02965.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0009 a0001c0001t0002 a0001c0007t0009	a0001c0001t0002g0135 a0001c0007t0009g0012 a0001c0001t0002g0135 a0001c0007t0009g0012	2	310	0.0065	-43	c.256 others(60): Show c.2565+324_2565+366delTTGGGGTGTGGGGACCTGGGCGTGGCCC CTGTGCTCCCCTGTG	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	21/21			chr13	TogoVar
TUBGCP5_chr15_22994177_23044569	23038020	TCCTAAAG others(36): Show TCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGTC	T T	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	350	0.0029	-43	c.147 others(58): Show c.147-911_147-869delGACTGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTAGG	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding	1/22			chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23043109	ATCATAAC others(36): Show ATCATAACCCCACCTGCCAGAGGTGCTGGGGGGCGGGGGGAACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 NA18960.hp1 HG04115.hp1 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0083 a0001c0002t0002g0084	2	350	0.0057	-43	c.-36 others(54): Show c.-3609_-3567delAGTTCCCCCCGCCCCCCAGCACCTCTGGCAGGTG GGGTTATGA	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3541		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23044526	GGATTTCA others(36): Show GGATTTCATAACCTAACCTGGCCAGAGGTGCTGGGGGGATATCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	350	0.0029	-43	c.-50 others(54): Show c.-5026_-4984delAGATATCCCCCCAGCACCTCTGGCCAGGTTAGGT TATGAAATC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		4958		chr15	TogoVar
TULP4_chr6_158307465_158516828	158491429	CTTTCTTT others(36): Show CTTTCTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0095 a0001c0002t0095	a0001c0002t0095g0191 a0001c0002t0095g0191	1	266	0.0038	-43	c.163 others(62): Show c.1631+1713_1631+1755delTCTTTCTTTCTTTTCTTTCTTTCTTT CTTTTCTTTCTTTCTTT	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
TVP23C_chr17_15531980_15568483	15563633	GGGGCGGG others(36): Show GGGGCGGGGCGAGCGGGGGCGGGGCGAGCGGGGGCGGGGCGAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	422	0.0024	-43	c.-22 others(52): Show c.-228_-186delGCTCGCCCCGCCCCCGCTCGCCCCGCCCCCGCTCGC CCCGCCC	TVP23C	ENSG00000175106.17	transcript	ENST00000518321.6	protein_coding		151		chr17	TogoVar
TWIST2_chr2_238843085_238915534	238869861	TCACTTGA others(36): Show TCACTTGAGTCCAGGAGTTTGAGGTTACAGTGAGCTATGCACAC	T T	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	336	0.0030	-43	c.35 others(62): Show c.35+21133_*35+21175delTGAGTCCAGGAGTTTGAGGTTACAGT GAGCTATGCACACCACT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXLNB_chr6_139235061_139296998	139247529	CTTCTTTT others(36): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTTAAGTTATCCATGGGTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0005 a0005c0010t0005	a0005c0010t0005g0164 a0005c0010t0005g0164	1	292	0.0034	-43	c.117 others(60): Show c.1170+245_1170+287delAACCCATGGATAACTTAAAAAAAAAAAA AAAAAAAAAAAAGAA	TXLNB	ENSG00000164440.15	transcript	ENST00000358430.8	protein_coding	8/9			chr6	TogoVar
TXNDC15_chr5_134869371_134906635	134903676	CGATGGAA others(36): Show CGATGGAATGCAGTGGCGTGATTTCAGCTCACTGCAGCCTCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	416	0.0024	-43	c.39 others(54): Show c.3992_*4034delGATGGAATGCAGTGGCGTGATTTCAGCTCACTGC AGCCTCCCG	TXNDC15	ENSG00000113621.15	transcript	ENST00000358387.9	protein_coding		2042		chr5	TogoVar
TYMS_chr18_652653_678578	667574	TGGTGATG others(36): Show TGGTGATGGTGATGGTGATGGTGATGGTGATGGTGATGGAGATG	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0067 a0001c0001t0011g0067	1	479	0.0021	-43	c.455 others(60): Show c.455-1482_455-1440delGATGGTGATGGTGATGGTGATGGAGATG GGTGATGGTGATGGT	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
UBAP2_chr9_33916693_34053887	33939812	GGGGAGGA others(36): Show GGGGAGGAGGAAGGGGGGGAGGAGGGGGAGGGGGAGGAGGGGGA	G G	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0153 a0001c0002t0001g0153	1	353	0.0028	-43	c.192 others(62): Show c.1929+1794_1929+1836delTCCCCCTCCTCCCCCTCCCCCTCCTC CCCCCCTTCCTCCTCCC	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	16/28			chr9	TogoVar
UBE2Z_chr17_48903407_48934056	48906264	TCGCCTCT others(36): Show TCGCCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTAGAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	328	0.0030	-43	c.-22 others(54): Show c.-2239_-2197delCGCCTCTACTAAAAAAATACAAAAAATTAGCCAG GCGTAGAGG	UBE2Z	ENSG00000159202.18	transcript	ENST00000360943.10	protein_coding		2142		chr17	TogoVar
UBE4A_chr11_118354600_118404211	118383533	CAGTGAGC others(36): Show CAGTGAGCTGAGATCGCACCACTCCAGCCTGGATGACAGAGCAA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	318	0.0031	-43	c.219 others(60): Show c.2197+758_2197+800delAGTGAGCTGAGATCGCACCACTCCAGCC TGGATGACAGAGCAA	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding	13/19			chr11	TogoVar
UBE4B_chr1_10027958_10186239	10179215	ACAAAGAA others(36): Show ACAAAGAAGCGCCTTCCCCTTACAAAAGGCAATGTATATGCCTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0143 a0002c0004t0005g0143	1	220	0.0045	-43	c.370 others(60): Show c.3701-200_3701-158delCAAAGAAGCGCCTTCCCCTTACAAAAGG CAATGTATATGCCTT	UBE4B	ENSG00000130939.20	transcript	ENST00000343090.11	protein_coding	26/27			chr1	TogoVar
UBL4B_chr1_110107443_110118947	110117201	TTTTTGAG others(36): Show TTTTTGAGACAGTGTCTTGTTCTGTTGCCCAGGCTGGAGTACAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	394	0.0025	-43	c.41 others(54): Show c.4143_*4185delTTTTGAGACAGTGTCTTGTTCTGTTGCCCAGGCT GGAGTACAG	UBL4B	ENSG00000186150.5	transcript	ENST00000334179.5	protein_coding		3255		chr1	TogoVar
UBTD1_chr10_97493924_97576206	97570548	GGCCCCGC others(36): Show GGCCCCGCCTGGAGCACTAGGCCCCCACCCTGCTGCTGCCTTCC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0187 a0001c0001t0008g0187	1	312	0.0032	-43	c.26 others(50): Show c.26_*68delGCCCCGCCTGGAGCACTAGGCCCCCACCCTGCTGCTGC CTTCC	UBTD1	ENSG00000165886.5	transcript	ENST00000370664.4	protein_coding	3/3	26		chr10	TogoVar
UBXN1_chr11_62671500_62684073	62674272	CGTGCCTG others(36): Show CGTGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	-43	c.22 others(54): Show c.2275_*2317delATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC CACAGGCAC	UBXN1	ENSG00000162191.14	transcript	ENST00000301935.10	protein_coding		2227		chr11	TogoVar
UIMC1_chr5_176900006_177011779	176911132	AAAGAAAA others(36): Show AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG00741.hp1 others(11): Show HG00140.hp1 HG00738.hp2 HG00741.hp1 HG01168.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG02109.hp1 HG02738.hp1 HG03239.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 others(11): Show a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0103 a0001c0002t0001g0104	14	328	0.0427	-43	c.167 others(60): Show c.1676+136_1676+178delCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTT	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	11/14			chr5	TogoVar
UMAD1_chr7_7635752_7884223	7806223	TTCTAAAA others(36): Show TTCTAAAAAAGAACAGCAGGGTTTTTTTTTTTTTACTTCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0063 a0001c0002t0063	a0001c0002t0063g0155 a0001c0002t0063g0155	1	248	0.0040	-43	c.156 others(60): Show c.156+4488_156+4530delAAGAACAGCAGGGTTTTTTTTTTTTTAC TTCCCCCCTCTAAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UNKL_chr16_1358205_1419704	1387693	ACGGCCCT others(36): Show ACGGCCCTCCGGGGACGTGGACACTGCACAGCCGCACGGCTGCC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0043 a0001c0001t0064g0043	1	320	0.0031	-43	c.108 others(62): Show c.1087-2351_1087-2309delGGCAGCCGTGCGGCTGTGCAGTGTCC ACGTCCCCGGAGGGCCG	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	9/14			chr16	TogoVar
UNK_chr17_75779806_75830799	75810415	GCACTAAT others(36): Show GCACTAATGACAGACATAGGGAGGTGCCACACCTGGGAGTGTCA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	353	0.0028	-43	c.314 others(58): Show c.314+491_314+533delACTAATGACAGACATAGGGAGGTGCCACAC CTGGGAGTGTCAC	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
UQCC3_chr11_62666673_62678686	62674272	CGTGCCTG others(36): Show CGTGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	326	0.0031	-43	c.21 others(54): Show c.2159_*2201delGTGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAAT	UQCC3	ENSG00000204922.5	transcript	ENST00000377953.4	protein_coding		587		chr11	TogoVar
UTP18_chr17_51255546_51302933	51301640	GTGATCCT others(36): Show GTGATCCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0038 a0001c0003t0001g0038	1	364	0.0027	-43	c.38 others(54): Show c.3874_*3916delTGATCCTCCTGCTTCAGCCTCCCGAGTAGCTGGG ATTACAGGC	UTP18	ENSG00000011260.14	transcript	ENST00000225298.12	protein_coding		3708		chr17	TogoVar
VIPR2_chr7_159023175_159149867	159087123	TAATACCC others(36): Show TAATACCCAGGACTCGGATAGTGAGATATGGCTTCCCAACAAAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03490.hp1 HG00140.hp2 HG03490.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0207 a0001c0004t0004g0209 a0001c0004t0004g0207 a0001c0004t0004g0209	2	334	0.0060	-43	c.357 others(62): Show c.357+16591_357+16633delGTTTGTTGGGAAGCCATATCTCACTA TCCGAGTCCTGGGTATT	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VNN1_chr6_132675849_132719055	132711866	GGGGGGCC others(36): Show GGGGGGCCTGCAAGAGGAGCTGAGGAGCTGAGTGGCTGAGTAAC	G G	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0148 a0001c0001t0007g0148	1	416	0.0024	-43	c.211 others(56): Show c.211-70_211-28delGTTACTCAGCCACTCAGCTCCTCAGCTCCTCT TGCAGGCCCCC	VNN1	ENSG00000112299.8	transcript	ENST00000367928.5	protein_coding	1/6			chr6	TogoVar
VPS37C_chr11_61125257_61166426	61162137	ACTGCTCT others(36): Show ACTGCTCTGCTATTTCCCAGGGGAATTTGAGACCAAATAAGTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0125 a0002c0002t0002g0125	1	210	0.0048	-43	c.-79 others(52): Show c.-796_-754delAGACTTATTTGGTCTCAAATTCCCCTGGGAAATAGC AGAGCAG	VPS37C	ENSG00000167987.11	transcript	ENST00000301765.10	protein_coding		712		chr11	TogoVar
VPS41_chr7_38717974_38914191	38720487	TATATATA others(36): Show TATATATATATATATATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	128	0.0078	-43	c.57 others(54): Show c.5716_*5758delTATATATATATATATATATATATATATATATATA TATATATAT	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2486		chr7	TogoVar
VPS53_chr17_503668_719839	552293	AGAGAATT others(36): Show AGAGAATTTTGATTCTTCGTCAATAAGTGGTTGATGTGAAAGCT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG01074.hp2 others(17): Show HG00280.hp2 HG00323.hp2 HG01074.hp2 HG01168.hp2 HG01175.hp1 HG01515.hp2 HG01884.hp2 HG01981.hp2 HG02280.hp2 HG02572.hp2 HG02738.hp2 HG03139.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03688.hp1 HG04204.hp2 NA18747.hp2 NA18984.hp2 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0001c0016 a0002c0003	a0001c0001t0033 a0001c0001t0081 a0001c0001t0098 others(14): Show a0001c0001t0033 a0001c0001t0081 a0001c0001t0098 a0001c0001t0099 a0001c0002t0001 a0001c0002t0068 a0001c0002t0074 a0001c0006t0001 a0001c0006t0022 a0001c0006t0041 a0001c0006t0042 a0001c0006t0043 a0001c0006t0060 a0001c0011t0055 a0001c0016t0056 a0002c0003t0039 a0002c0003t0136	a0001c0001t0033g0119 a0001c0001t0033g0120 a0001c0001t0081g0046 others(17): Show a0001c0001t0033g0119 a0001c0001t0033g0120 a0001c0001t0081g0046 a0001c0001t0098g0200 a0001c0001t0099g0220 a0001c0002t0001g0066 a0001c0002t0001g0094 a0001c0002t0068g0093 a0001c0002t0074g0095 a0001c0006t0001g0113 a0001c0006t0022g0100 a0001c0006t0022g0101 a0001c0006t0041g0003 a0001c0006t0042g0002 a0001c0006t0043g0001 a0001c0006t0060g0103 a0001c0011t0055g0091 a0001c0016t0056g0099 a0002c0003t0039g0176 a0002c0003t0136g0215	20	97	0.2062	-43	c.178 others(60): Show c.1788-386_1788-344delAGCTTTCACATCAACCACTTATTGACGA AGAATCAAAATTCTC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	16/21			chr17	TogoVar
WDFY2_chr13_51579462_51772709	51729520	CCTTCCTC others(36): Show CCTTCCTCCAGCCCATTCTTCTCTTCTCAGTGCAGGAGAGCAGT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0185 a0002c0003t0004g0185	1	276	0.0036	-43	c.598 others(60): Show c.598+1771_598+1813delAGTCTTCCTCCAGCCCATTCTTCTCTTC TCAGTGCAGGAGAGC	WDFY2	ENSG00000139668.9	transcript	ENST00000298125.7	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
WDFY4_chr10_48679873_48987956	48971537	GAACATGT others(36): Show GAACATGTTTCACTGAAACATGTTCTCTGGATAATTTTCACTGA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0020 a0020	a0020c0011 a0020c0011	a0020c0011t0001 a0020c0011t0001	a0020c0011t0001g0019 a0020c0011t0001g0019	1	200	0.0050	-43	c.892 others(62): Show c.8928+1278_8928+1320delATAATTTTCACTGAAACATGTTTCAC TGAAACATGTTCTCTGG	WDFY4	ENSG00000128815.20	transcript	ENST00000325239.12	protein_coding	57/61		INFO_REALIGN_3_PRIME	chr10	TogoVar

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