Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
WWP2_chr16_69757332_69946739	69783780	T T	TACAACAA others(14): Show TACAACAACAACAACAACAACA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01358.hp2 HG01496.hp1 others(5): Show HG01099.hp1 HG01358.hp2 HG01496.hp1 HG01975.hp1 HG01978.hp1 HG03195.hp2 HG03516.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 a0001c0001t0001 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0020 a0001c0001t0001g0045 a0001c0001t0001g0046 others(5): Show a0001c0001t0001g0020 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0076 a0001c0002t0003g0047 a0001c0002t0004g0065 a0001c0002t0004g0066	8	230	0.0348	21	c.-15 others(38): Show c.-15-3211_-15-3191dupCAACAACAACAACAACAACAA	WWP2	ENSG00000198373.13	transcript	ENST00000359154.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWTR1_chr3_149512235_149663025	149622494	G G	GAAGAAAA others(14): Show GAAGAAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0240	1	206	0.0049	21	c.431 others(40): Show c.431+34381_431+34382insTCTTTCTTTCTTTCTTTTCTT	WWTR1	ENSG00000018408.15	transcript	ENST00000360632.8	protein_coding	2/6			chr3	TogoVar
XAF1_chr17_6751046_6780647	6751531	A A	AAAGAAGA others(14): Show AAAGAAGAAGAAGAAGAAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	428	0.0023	21	c.-45 others(32): Show c.-4548_-4547insAAGAAGAAGAAGAAGAAGAAG	XAF1	ENSG00000132530.17	transcript	ENST00000361842.8	protein_coding		4514		chr17	TogoVar
XAF1_chr17_6751046_6780647	6751534	A A	AAAGAAGA others(14): Show AAAGAAGAAGAAGAAGAAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 NA18975.hp2 NA18994.hp2 others(5): Show HG02027.hp1 NA18975.hp2 NA18994.hp2 NA19001.hp2 NA19002.hp2 NA19010.hp2 NA19056.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0002c0003t0001	a0001c0001t0001g0002 a0001c0002t0002g0005 a0001c0002t0003g0006 others(4): Show a0001c0001t0001g0002 a0001c0002t0002g0005 a0001c0002t0003g0006 a0001c0002t0003g0023 a0002c0003t0001g0007 a0002c0003t0001g0034 a0002c0003t0001g0186	8	303	0.0264	21	c.-45 others(32): Show c.-4545_-4544insAAGAAGAAGAAGAAGAAGAAG	XAF1	ENSG00000132530.17	transcript	ENST00000361842.8	protein_coding		4511		chr17	TogoVar
XAF1_chr17_6751046_6780647	6751581	A A	AGAAGAAG others(14): Show AGAAGAAGAAGAAGAAGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18945.hp2 NA19077.hp2 NA18944.hp1 NA18945.hp2 NA19077.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0035 a0003c0004t0004g0035	3	419	0.0072	21	c.-44 others(32): Show c.-4498_-4497insGAAGAAGAAGAAGAAGAAGAG	XAF1	ENSG00000132530.17	transcript	ENST00000361842.8	protein_coding		4464		chr17	TogoVar
XAGE5_chrX_52806287_52823301	52822820	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	4	0.2500	21	c.46 others(32): Show c.4607_*4608insTTTTTTTTTTTTTTTTTTTTT	XAGE5	ENSG00000171405.14	transcript	ENST00000375501.2	protein_coding		4520		chrX	TogoVar
XG_chrX_2747040_2821500	2789459	T T	TAAGTTTA others(14): Show TAAGTTTAGGGTACAAAAATAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp2 others(59): Show HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00741.hp1 HG01433.hp2 HG01884.hp1 HG02004.hp2 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02165.hp1 HG02257.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02683.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03239.hp1 HG03453.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03927.hp1 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18963.hp2 NA18967.hp2 NA18969.hp2 NA18980.hp2 NA18983.hp2 NA18988.hp1 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19009.hp1 NA19054.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19067.hp2 NA19081.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19240.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0008 a0001c0001 a0002c0003 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0027 a0001c0001t0029 a0001c0001t0046 a0002c0003t0031 a0004c0008t0035	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0069 others(59): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0069 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0240 a0001c0001t0001g0250 a0001c0001t0001g0264 a0001c0001t0001g0273 a0001c0001t0001g0298 a0001c0001t0001g0304 a0001c0001t0002g0071 a0001c0001t0002g0096 a0001c0001t0002g0170 a0001c0001t0002g0231 a0001c0001t0002g0263 a0001c0001t0002g0294 a0001c0001t0002g0314 a0001c0001t0003g0053 a0001c0001t0003g0081 a0001c0001t0003g0154 a0001c0001t0003g0219 a0001c0001t0003g0237 a0001c0001t0004g0142 a0001c0001t0005g0114 a0001c0001t0006g0025 a0001c0001t0006g0058 a0001c0001t0006g0061 a0001c0001t0006g0076 a0001c0001t0006g0161 a0001c0001t0006g0162 a0001c0001t0006g0255 a0001c0001t0009g0103 a0001c0001t0010g0174 a0001c0001t0010g0192 a0001c0001t0013g0303 a0001c0001t0013g0307 a0001c0001t0013g0309 a0001c0001t0016g0277 a0001c0001t0016g0293 a0001c0001t0017g0042 a0001c0001t0017g0269 a0001c0001t0017g0270 a0001c0001t0020g0147 a0001c0001t0021g0020 a0001c0001t0027g0167 a0001c0001t0029g0128 a0001c0001t0029g0279 a0001c0001t0046g0122 a0002c0003t0031g0110 a0004c0008t0035g0282	62	320	0.1938	21	c.191 others(36): Show c.191-179_191-178insAGGGTACAAAAATAAAAGTTT	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	4/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
XIAP_chrX_123855053_123918972	123869362	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01361.hp1 HG00558.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0248 a0002c0002t0003g0249 a0002c0002t0003g0248 a0002c0002t0003g0249	2	112	0.0179	21	c.-33 others(38): Show c.-33+9071_-33+9091dupAAAAAAAAAAAAAAAAAAAAA	XIAP	ENSG00000101966.14	transcript	ENST00000371199.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
XIAP_chrX_123855053_123918972	123884944	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0007 a0001c0001t0043g0007	1	127	0.0079	21	c.-32 others(36): Show c.-32-675_-32-674insAAAAAAAAAAAAAAAAAAAAA	XIAP	ENSG00000101966.14	transcript	ENST00000371199.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
XKR3_chr22_16778480_16830411	16799413	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03486.hp1 NA18972.hp2 others(1): Show HG01975.hp1 HG03486.hp1 NA18972.hp2 NA19009.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0004c0004t0002 others(1): Show a0001c0001t0001 a0004c0004t0001 a0004c0004t0002 a0004c0004t0005	a0001c0001t0001g0106 a0004c0004t0001g0180 a0004c0004t0002g0319 others(1): Show a0001c0001t0001g0106 a0004c0004t0001g0180 a0004c0004t0002g0319 a0004c0004t0005g0356	4	87	0.0460	21	c.589 others(36): Show c.589+337_589+357dupTTTTTTTTTTTTTTTTTTTTT	XKR3	ENSG00000172967.8	transcript	ENST00000684488.1	protein_coding	3/3			chr22	TogoVar
XKR4_chr8_55097028_55547054	55131163	A A	AAACAACA others(14): Show AAACAACAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01167.hp1 HG01243.hp1 others(6): Show HG00140.hp1 HG01167.hp1 HG01243.hp1 HG02818.hp2 NA18522.hp1 NA18964.hp1 NA19030.hp1 NA19060.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0053 a0001c0001t0094 others(6): Show a0001c0001t0035 a0001c0001t0053 a0001c0001t0094 a0001c0001t0096 a0001c0001t0100 a0001c0001t0122 a0001c0001t0124 a0001c0001t0129 a0001c0001t0156	a0001c0001t0035g0170 a0001c0001t0053g0030 a0001c0001t0094g0176 others(6): Show a0001c0001t0035g0170 a0001c0001t0053g0030 a0001c0001t0094g0176 a0001c0001t0096g0109 a0001c0001t0100g0122 a0001c0001t0122g0032 a0001c0001t0124g0143 a0001c0001t0129g0031 a0001c0001t0156g0111	9	99	0.0909	21	c.806 others(40): Show c.806+27872_806+27892dupCAACAACAACAACAACAACAA	XKR4	ENSG00000206579.10	transcript	ENST00000327381.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
XKR4_chr8_55097028_55547054	55247858	T T	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0058 a0001c0001t0095g0058	1	181	0.0055	21	c.807 others(42): Show c.807-109820_807-109819insCTTTCTTTCTTTCTTTCTTTC	XKR4	ENSG00000206579.10	transcript	ENST00000327381.7	protein_coding	1/2			chr8	TogoVar
XKR6_chr8_10891045_11206833	10928656	T T	TGATCTCA others(14): Show TGATCTCATCCCACAGGCCCGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02630.hp1 HG02809.hp1 others(5): Show HG00741.hp2 HG02630.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp2 HG02970.hp2 HG03516.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0048	a0001c0001t0001g0068 a0001c0001t0004g0016 a0001c0001t0005g0171 others(5): Show a0001c0001t0001g0068 a0001c0001t0004g0016 a0001c0001t0005g0171 a0001c0001t0007g0132 a0001c0001t0012g0130 a0001c0001t0012g0134 a0001c0001t0015g0014 a0001c0001t0048g0109	8	178	0.0449	21	c.765 others(38): Show c.765-3847_765-3827dupGCGGGCCTGTGGGATGAGATC	XKR6	ENSG00000171044.11	transcript	ENST00000416569.3	protein_coding	1/2			chr8	TogoVar
XKR6_chr8_10891045_11206833	11106863	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02723.hp2 HG01884.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0049 a0001c0001t0009 a0001c0001t0049	a0001c0001t0009g0169 a0001c0001t0049g0112 a0001c0001t0009g0169 a0001c0001t0049g0112	2	52	0.0385	21	c.764 others(40): Show c.764+93712_764+93713insCTTTTTTTTTTTTTTTTTTTT	XKR6	ENSG00000171044.11	transcript	ENST00000416569.3	protein_coding	1/2			chr8	TogoVar
XKR9_chr8_70664339_70740942	70668748	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	256	0.0039	21	c.-11 others(32): Show c.-1151_-1150insTTTTTTTTTTTTTTTTTTTTT	XKR9	ENSG00000221947.8	transcript	ENST00000408926.8	protein_coding		590		chr8	TogoVar
XKR9_chr8_70664339_70740942	70685490	T T	TATAATAA others(14): Show TATAATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03453.hp2 HG03516.hp1 others(1): Show HG03209.hp1 HG03453.hp2 HG03516.hp1 NA20300.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0216 a0002c0004t0009g0217 a0002c0004t0009g0218 others(1): Show a0002c0004t0009g0216 a0002c0004t0009g0217 a0002c0004t0009g0218 a0002c0004t0009g0219	4	233	0.0172	21	c.272 others(38): Show c.272+4162_272+4182dupTAATAATAATAATAATAATAA	XKR9	ENSG00000221947.8	transcript	ENST00000408926.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
XPNPEP3_chr22_40852148_40937815	40898225	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0177 a0001c0001t0036g0177	1	60	0.0167	21	c.793 others(38): Show c.793-9343_793-9323dupTTTTTTTTTTTTTTTTTTTTT	XPNPEP3	ENSG00000196236.13	transcript	ENST00000357137.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
XPO4_chr13_20772329_20907746	20861777	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0253 a0001c0001t0007g0253	1	66	0.0152	21	c.317 others(36): Show c.317+919_317+939dupAAAAAAAAAAAAAAAAAAAAA	XPO4	ENSG00000132953.18	transcript	ENST00000255305.11	protein_coding	3/22			chr13	TogoVar
XPO6_chr16_28092976_28216965	28160503	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02615.hp2 HG03098.hp1 others(4): Show HG02056.hp1 HG02615.hp2 HG03098.hp1 HG03471.hp2 NA18975.hp2 NA18990.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0002 a0001c0001t0006 a0001c0003t0002	a0001c0001t0006g0286 a0001c0001t0006g0289 a0001c0001t0006g0290 others(4): Show a0001c0001t0006g0286 a0001c0001t0006g0289 a0001c0001t0006g0290 a0001c0003t0002g0011 a0001c0003t0002g0016 a0001c0003t0002g0031 a0001c0003t0002g0045	7	141	0.0496	21	c.644 others(38): Show c.644-3977_644-3976insTTTTTTTTTTTTTTTTTTTTT	XPO6	ENSG00000169180.12	transcript	ENST00000304658.10	protein_coding	6/23			chr16	TogoVar
XPO6_chr16_28092976_28216965	28186374	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG02148.hp2 others(1): Show HG01516.hp2 HG01517.hp1 HG02148.hp2 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0227 a0001c0002t0001g0231 a0001c0002t0001g0233 others(1): Show a0001c0002t0001g0227 a0001c0002t0001g0231 a0001c0002t0001g0233 a0001c0002t0001g0272	4	127	0.0315	21	c.4-5 others(34): Show c.4-5344_4-5343insAAAAAAAAAAAAAAAAAAAAA	XPO6	ENSG00000169180.12	transcript	ENST00000304658.10	protein_coding	1/23			chr16	TogoVar
XRCC1_chr19_43538311_43580527	43550869	G G	GGCTTGGC others(14): Show GGCTTGGCTGGCGCAGCCTGTA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0291 a0003c0004t0001g0291	1	426	0.0023	21	c.119 others(38): Show c.1199+701_1199+702insTACAGGCTGCGCCAGCCAAGC	XRCC1	ENSG00000073050.12	transcript	ENST00000262887.10	protein_coding	10/16			chr19	TogoVar
XRCC3_chr14_103692617_103720451	103705545	T T	TCCAGGAA others(14): Show TCCAGGAAAGGAAGTCATTTCC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	398	0.0025	21	c.406 others(38): Show c.406+1437_406+1457dupGGAAATGACTTCCTTTCCTGG	XRCC3	ENSG00000126215.14	transcript	ENST00000555055.6	protein_coding	6/9			chr14	TogoVar
XRCC4_chr5_83072547_83358760	83309296	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA19086.hp2 NA19090.hp1 NA18981.hp1 NA19086.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0002c0003t0001 a0001c0001t0002 a0001c0001t0003 a0002c0003t0001	a0001c0001t0002g0079 a0001c0001t0003g0169 a0002c0003t0001g0228 a0001c0001t0002g0079 a0001c0001t0003g0169 a0002c0003t0001g0228	3	118	0.0254	21	c.894 others(40): Show c.894-43834_894-43833insAAAAATATATATATATATATA	XRCC4	ENSG00000152422.16	transcript	ENST00000396027.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
XRCC4_chr5_83072547_83358760	83309296	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA19060.hp1 HG03704.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0124 a0001c0002t0001g0227 a0001c0001t0001g0124 a0001c0002t0001g0227	2	117	0.0171	21	c.894 others(40): Show c.894-43834_894-43833insAAATATATATATATATATATA	XRCC4	ENSG00000152422.16	transcript	ENST00000396027.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
XRCC4_chr5_83072547_83358760	83309296	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18939.hp2 HG01081.hp2 NA18939.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0236 a0002c0003t0001g0143 a0001c0001t0002g0236 a0002c0003t0001g0143	2	117	0.0171	21	c.894 others(40): Show c.894-43835_894-43834insTATATATATATATATATATAT	XRCC4	ENSG00000152422.16	transcript	ENST00000396027.9	protein_coding	7/7			chr5	TogoVar
XRCC5_chr2_216104348_216211293	216109146	G G	GTGCGCAT others(14): Show GTGCGCATGCTCGGCGGGAATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG02615.hp1 HG01167.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0016 a0001c0002t0002g0304 a0001c0001t0002g0016 a0001c0002t0002g0304	2	200	0.0100	21	c.-29 others(30): Show c.-291_-290insTGCGCATGCTCGGCGGGAATC	XRCC5	ENSG00000079246.16	transcript	ENST00000392132.7	protein_coding		201		chr2	TogoVar
XRCC5_chr2_216104348_216211293	216172469	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02896.hp1 HG02976.hp1 HG02055.hp2 HG02896.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0192 a0001c0001t0007g0193 a0001c0001t0007g0194 a0001c0001t0007g0192 a0001c0001t0007g0193 a0001c0001t0007g0194	3	148	0.0203	21	c.183 others(42): Show c.1834+10438_1834+10439insTTTTTTTTTTTTTTTTTTTTT	XRCC5	ENSG00000079246.16	transcript	ENST00000392132.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
XRN1_chr3_142301610_142453037	142431962	A A	AATATAAT others(14): Show AATATAATATATTGTATATATT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp2 HG02897.hp1 others(1): Show HG01891.hp1 HG02895.hp2 HG02897.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0001 a0001c0001t0009g0114 a0001c0001t0009g0115 a0001c0001t0009g0001 a0001c0001t0009g0114 a0001c0001t0009g0115	4	285	0.0140	21	c.308 others(36): Show c.308+678_308+698dupAATATATACAATATATTATAT	XRN1	ENSG00000114127.11	transcript	ENST00000392981.7	protein_coding	2/40			chr3	TogoVar
XRN2_chr20_21298331_21394825	21377264	C C	CTTTTTCT others(14): Show CTTTTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	19	0.0526	21	c.258 others(40): Show c.2585-4725_2585-4724insCTTTTTTTTTTTTTTTTTTTT	XRN2	ENSG00000088930.8	transcript	ENST00000377191.5	protein_coding	27/29		INFO_REALIGN_3_PRIME	chr20	TogoVar
XRN2_chr20_21298331_21394825	21377264	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG02965.hp1 others(2): Show HG01168.hp1 HG01169.hp2 HG02965.hp1 NA18995.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0183 a0001c0001t0002g0185 others(2): Show a0001c0001t0002g0162 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0194 a0001c0001t0002g0198	5	23	0.2174	21	c.258 others(40): Show c.2585-4716_2585-4715insTTTTTTTTTTTTTTTTTTTTT	XRN2	ENSG00000088930.8	transcript	ENST00000377191.5	protein_coding	27/29		INFO_REALIGN_3_PRIME	chr20	TogoVar
XRRA1_chr11_74835910_74954091	74837001	G G	GAGTAATA others(14): Show GAGTAATAGATTTGGCACAGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0002 a0002c0020t0002	a0002c0020t0002g0275 a0002c0020t0002g0275	1	344	0.0029	21	c.61 others(32): Show c.6198_*6199insGACTGTGCCAAATCTATTACT	XRRA1	ENSG00000166435.17	transcript	ENST00000684022.1	protein_coding		3908		chr11	TogoVar
XXYLT1_chr3_195063284_195276159	195092981	T T	TACCATCT others(14): Show TACCATCTCACACCAGTTAGAA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	196	0.0051	21	c.786 others(40): Show c.786-22891_786-22871dupTTCTAACTGGTGTGAGATGGT	XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding	3/3			chr3	TogoVar
XYLB_chr3_38341785_38419985	38351171	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00423.hp2 others(15): Show HG00140.hp1 HG00408.hp1 HG00423.hp2 HG01256.hp1 HG01261.hp1 HG01934.hp2 HG02015.hp1 HG02602.hp1 HG03491.hp2 HG03492.hp1 HG03942.hp1 HG04228.hp1 NA18962.hp1 NA18986.hp1 NA18986.hp2 NA18999.hp1 NA19010.hp2 NA20129.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0003 a0002c0002 a0007c0008 a0001c0003 a0002c0002 a0007c0008	a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0007c0008t0003	a0001c0003t0001g0062 a0002c0002t0001g0027 a0002c0002t0001g0033 others(15): Show a0001c0003t0001g0062 a0002c0002t0001g0027 a0002c0002t0001g0033 a0002c0002t0001g0086 a0002c0002t0002g0017 a0002c0002t0002g0032 a0002c0002t0002g0087 a0002c0002t0002g0090 a0002c0002t0002g0249 a0002c0002t0004g0016 a0002c0002t0004g0028 a0002c0002t0004g0031 a0002c0002t0004g0034 a0002c0002t0004g0060 a0002c0002t0005g0088 a0002c0002t0005g0089 a0007c0008t0003g0029 a0007c0008t0003g0030	18	155	0.1161	21	c.140 others(38): Show c.140+2547_140+2567dupAAAAAAAAAAAAAAAAAAAAA	XYLB	ENSG00000093217.11	transcript	ENST00000207870.8	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
XYLT1_chr16_17096769_17475960	17232735	A A	ATAGTGGT others(14): Show ATAGTGGTGTTGGCAATGGTGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0087 a0002c0005t0087	a0002c0005t0087g0133 a0002c0005t0087g0133	1	154	0.0065	21	c.913 others(40): Show c.913+26232_913+26252dupCCACCATTGCCAACACCACTA	XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding	3/11			chr16	TogoVar
YAF2_chr12_42152104_42243248	42175740	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01496.hp1 others(4): Show HG01168.hp2 HG01169.hp1 HG01496.hp1 HG01496.hp2 HG02735.hp2 NA18962.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0027 others(4): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0048 a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0074	7	15	0.4667	21	c.153 others(40): Show c.153-13996_153-13976dupTTTTTTTTTTTTTTTTTTTTT	YAF2	ENSG00000015153.15	transcript	ENST00000534854.7	protein_coding	2/3			chr12	TogoVar
YAP1_chr11_102105447_102238424	102176745	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02615.hp2 NA18981.hp2 others(1): Show HG00140.hp2 HG02615.hp2 NA18981.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0234 a0001c0001t0001g0274 a0001c0001t0003g0036 others(1): Show a0001c0001t0001g0234 a0001c0001t0001g0274 a0001c0001t0003g0036 a0001c0001t0004g0271	4	9	0.4444	21	c.689 others(38): Show c.689-9262_689-9242dupAAAAAAAAAAAAAAAAAAAAA	YAP1	ENSG00000137693.14	transcript	ENST00000282441.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
YAP1_chr11_102105447_102238424	102228634	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	183	0.0055	21	c.127 others(40): Show c.1276+1060_1277-1041dupAAAAAAAAAAAAAAAAAAAAA	YAP1	ENSG00000137693.14	transcript	ENST00000282441.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
YBEY_chr21_46281342_46302751	46298434	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01106.hp2 HG01109.hp2 others(18): Show HG00735.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01433.hp1 HG02523.hp2 HG02723.hp1 HG02723.hp2 HG03098.hp2 HG03491.hp1 HG03492.hp1 HG03710.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 NA18522.hp1 NA18944.hp2 NA18982.hp1 NA19070.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0145 a0001c0001t0001g0173 a0001c0001t0001g0174 others(18): Show a0001c0001t0001g0145 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0003g0148 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0184 a0001c0001t0003g0190 a0001c0001t0003g0206 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0223 a0001c0001t0003g0228 a0001c0001t0003g0234 a0001c0001t0003g0236 a0001c0001t0003g0237	21	212	0.0991	21	c.80 others(30): Show c.800_*801insTTTTTTTTTTTTTTTTTTTTT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding		684		chr21	TogoVar
YJEFN3_chr19_19523911_19542581	19531718	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	96	0.0104	21	c.210 others(36): Show c.210-904_210-884dupTTTTTTTTTTTTTTTTTTTTT	YJEFN3	ENSG00000250067.12	transcript	ENST00000514277.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
YJU2B_chr19_13742895_13768289	13767037	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0213 a0002c0002t0002g0213	1	296	0.0034	21	c.39 others(32): Show c.3969_*3970insTATATATATATATATTTTTTT	YJU2B	ENSG00000104957.14	transcript	ENST00000221554.13	protein_coding		3749		chr19	TogoVar
YJU2B_chr19_13742895_13768289	13767038	T T	TATATATA others(14): Show TATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG03490.hp1 NA20805.hp1 HG00558.hp1 HG03490.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0188 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0188	3	369	0.0081	21	c.39 others(32): Show c.3970_*3971insATATATATATATATATATATA	YJU2B	ENSG00000104957.14	transcript	ENST00000221554.13	protein_coding		3750		chr19	TogoVar
YPEL2_chr17_59326655_59406729	59405456	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	157	0.0064	21	c.82 others(32): Show c.8266_*8267insTATATATATATATATATATAT	YPEL2	ENSG00000175155.11	transcript	ENST00000312655.9	protein_coding		3728		chr17	TogoVar
YPEL2_chr17_59326655_59406729	59405456	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	157	0.0064	21	c.82 others(32): Show c.8266_*8267insTATATATATATATATATTTTT	YPEL2	ENSG00000175155.11	transcript	ENST00000312655.9	protein_coding		3728		chr17	TogoVar
YPEL2_chr17_59326655_59406729	59405456	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0029 a0001c0001t0022g0029	1	157	0.0064	21	c.82 others(32): Show c.8266_*8267insTATATATATATATATTTTTTT	YPEL2	ENSG00000175155.11	transcript	ENST00000312655.9	protein_coding		3728		chr17	TogoVar
YTHDF1_chr20_63190429_63221131	63216114	G G	GGCGGCGG others(14): Show GGCGGCGGCGGCGGCGACAGCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00408.hp2 NA18947.hp1 NA18984.hp1 others(2): Show HG00408.hp2 NA18947.hp1 NA18984.hp1 NA18985.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0018 a0001c0002t0006g0180 a0001c0002t0006g0018 a0001c0002t0006g0180	5	376	0.0133	21	c.-24 others(30): Show c.-243_-223dupTGCTGTCGCCGCCGCCGCCGC	YTHDF1	ENSG00000149658.18	transcript	ENST00000370339.8	protein_coding	1/5	223		chr20	TogoVar
YTHDF2_chr1_28731940_28774775	28753358	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02135.hp2 HG01071.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0034 a0001c0001t0001g0006 a0001c0001t0001g0034	2	227	0.0088	21	c.171 others(40): Show c.1716+9392_1716+9412dupAAAAAAAAAAAAAAAAAAAAA	YTHDF2	ENSG00000198492.16	transcript	ENST00000373812.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
YTHDF3_chr8_63163621_63217786	63188701	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	186	0.0054	21	c.173 others(38): Show c.1734+957_1734+958insATATATATATATATATATTTT	YTHDF3	ENSG00000185728.17	transcript	ENST00000539294.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
YWHAE_chr17_1339275_1405222	1355115	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03041.hp2 NA18961.hp2 others(1): Show HG02015.hp1 HG03041.hp2 NA18961.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0246 a0001c0001t0001g0262 a0001c0001t0001g0299 others(1): Show a0001c0001t0001g0246 a0001c0001t0001g0262 a0001c0001t0001g0299 a0001c0001t0006g0247	4	79	0.0506	21	c.579 others(36): Show c.579-769_579-768insTTTTTTTTTTTTTTTTTTTTT	YWHAE	ENSG00000108953.17	transcript	ENST00000264335.13	protein_coding	4/5			chr17	TogoVar
YWHAE_chr17_1339275_1405222	1359935	G G	GAAGGGGA others(14): Show GAAGGGGAGGGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG01168.hp2 others(2): Show HG00738.hp2 HG01081.hp1 HG01168.hp2 HG01169.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0350 a0001c0001t0007g0353 a0001c0001t0007g0354 others(2): Show a0001c0001t0007g0350 a0001c0001t0007g0353 a0001c0001t0007g0354 a0001c0001t0007g0355 a0001c0001t0007g0356	5	367	0.0136	21	c.578 others(38): Show c.578+1156_578+1157insTCCCCCCCTCCCCCTCCCCTT	YWHAE	ENSG00000108953.17	transcript	ENST00000264335.13	protein_coding	4/5			chr17	TogoVar
YWHAE_chr17_1339275_1405222	1394445	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19043.hp2 HG03486.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0138 a0001c0001t0003g0133 a0001c0001t0003g0138	2	372	0.0054	21	c.64+ others(36): Show c.64+5601_64+5602insGTTTTTTTTTTTTTTTTTTTT	YWHAE	ENSG00000108953.17	transcript	ENST00000264335.13	protein_coding	1/5			chr17	TogoVar

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