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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TECTA_chr11_121096243_121196490	121185949	T T	TTAATGAG others(22): Show TTAATGAGTAGGGAAAGCAGATGTTGAATG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02886.hp1 HG02257.hp1 HG02886.hp1	a0003 a0017 a0003 a0017	a0003c0004 a0017c0053 a0003c0004 a0017c0053	a0003c0004t0002 a0017c0053t0002 a0003c0004t0002 a0017c0053t0002	a0003c0004t0002g0196 a0017c0053t0002g0274 a0003c0004t0002g0196 a0017c0053t0002g0274	2	317	0.0063	29	c.600 others(48): Show c.6000-1883_6000-1882insTAATGAGTAGGGAAAGCAGATGTTGA ATG		TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23						chr11	TogoVar
TENM2_chr5_166974029_168269157	167351010	G G	GATATATA others(22): Show GATATATATATGGGATATATACATATGGAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02630.hp1 HG03130.hp1 HG01943.hp2 HG02630.hp1 HG03130.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0015 a0006c0013 a0001c0001 a0001c0015 a0006c0013	a0001c0001t0004 a0001c0015t0002 a0006c0013t0004 a0001c0001t0004 a0001c0015t0002 a0006c0013t0004	a0001c0001t0004g0006 a0001c0015t0002g0051 a0006c0013t0004g0015 a0001c0001t0004g0006 a0001c0015t0002g0051 a0006c0013t0004g0015	3	30	0.1000	29	c.227 others(48): Show c.227-24178_227-24177insGGGATATATACATATGGATATATATA TAT		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	3/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	167452948	T T	TATATATA others(22): Show TATATATATATATATATATATATATTTTAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02897.hp1 HG02922.hp2 others(2): Show HG02145.hp1 HG02897.hp1 HG02922.hp2 HG03130.hp1 NA19043.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0031 a0003c0034 others(2): Show a0001c0001 a0001c0031 a0003c0034 a0003c0035 a0007c0036	a0001c0001t0004 a0001c0031t0001 a0003c0034t0025 others(2): Show a0001c0001t0004 a0001c0031t0001 a0003c0034t0025 a0003c0035t0001 a0007c0036t0004	a0001c0001t0004g0006 a0001c0031t0001g0050 a0003c0034t0025g0002 others(2): Show a0001c0001t0004g0006 a0001c0031t0001g0050 a0003c0034t0025g0002 a0003c0035t0001g0039 a0007c0036t0004g0017	5	18	0.2778	29	c.502 others(48): Show c.502+77489_502+77490insATATATATATTTTAAATATATATATA TAT		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM3_chr4_182238402_182808024	182426007	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0003 a0001c0041t0003	a0001c0041t0003g0127 a0001c0041t0003g0127	1	6	0.1667	29	c.511 others(48): Show c.511+79101_511+79102insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	3/27					INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM4_chr11_78647829_79446030	79384937	T T	TAAAATAA others(22): Show TAAAATAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0018 a0001c0007t0018	a0001c0007t0018g0093 a0001c0007t0018g0093	1	21	0.0476	29	c.-32 others(50): Show c.-321+55571_-321+55572insTTTTATTTTATTTTATTTTATTTT ATTTT		TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	1/33						chr11	TogoVar
TENT4B_chr16_50148306_50240310	50153209	G G	GCGGAGCC others(22): Show GCGGAGCCGGCAGAGGCCCCGCCCCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	310	0.0032	29	c.-41 others(38): Show c.-413_-412insCGGAGCCGGCAGAGGCCCCGCCCCGGGGC		TENT4B	ENSG00000121274.14	transcript	ENST00000561678.7	protein_coding					96		chr16	TogoVar
TENT5A_chr6_81740730_81757681	81740739	A A	ACATATTA others(22): Show ACATATTATATACTATATAATAATATGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	174	0.0057	29	c.89 others(40): Show c.8955_*8956insATACATATTATTATATAGTATATAATATG		TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding					4990		chr6	TogoVar
TERF1_chr8_73003864_73053123	73037758	T T	TATAGTAT others(22): Show TATAGTATAATATATATATTATATATAATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02132.hp1 HG02145.hp2 others(23): Show HG01167.hp2 HG02132.hp1 HG02145.hp2 HG02622.hp1 HG02717.hp2 HG02886.hp2 HG02897.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp2 HG03927.hp1 HG06807.hp2 NA18906.hp2 NA18940.hp2 NA18945.hp2 NA18959.hp2 NA18984.hp1 NA18991.hp1 NA19043.hp1 NA19058.hp1 NA19065.hp1 NA19067.hp1 NA19072.hp1 NA19084.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0230 others(21): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0004c0006t0001g0239	26	340	0.0765	29	c.104 others(48): Show c.1040-1358_1040-1357insATAGTATAATATATATATTATATATA ATA		TERF1	ENSG00000147601.15	transcript	ENST00000276603.10	protein_coding	8/9						chr8	TogoVar
TERT_chr5_1248167_1300068	1272677	C C	CATCAGAC others(22): Show CATCAGACCCCCACAACCGCCATCCACAGT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	362	0.0028	29	c.228 others(46): Show c.2287-398_2287-397insACTGTGGATGGCGGTTGTGGGGGTCTGA T		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1272889	C C	CATCAGAC others(22): Show CATCAGACCCCCACAACCGCCATCCACAGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0371 a0001c0001t0001g0371	1	342	0.0029	29	c.228 others(46): Show c.2287-610_2287-609insACTGTGGATGGCGGTTGTGGGGGTCTGA T		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1272927	A A	ACATCAGA others(22): Show ACATCAGACCCCACGACCGCCATCCACAGT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0382 a0001c0024t0001g0382	1	384	0.0026	29	c.228 others(46): Show c.2287-648_2287-647insACTGTGGATGGCGGTCGTGGGGTCTGAT G		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1273118	C C	CATCAGAC others(22): Show CATCAGACCCCCACAACCGCCATCCACAGT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA20805.hp1 NA19074.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0308 a0001c0001t0001g0291 a0001c0001t0001g0308	2	304	0.0066	29	c.228 others(46): Show c.2287-839_2287-838insACTGTGGATGGCGGTTGTGGGGGTCTGA T		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1273154	C C	CATCAGAC others(22): Show CATCAGACCCCCACAACCGCCATCCACAGT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19054.hp2 NA19011.hp1 NA19054.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0101 a0001c0002t0001g0099 a0001c0002t0001g0101	2	242	0.0083	29	c.228 others(46): Show c.2287-875_2287-874insACTGTGGATGGCGGTTGTGGGGGTCTGA T		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1273188	C C	CATCAGAC others(22): Show CATCAGACCCCCACAACCGCCATCCACAGT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	328	0.0030	29	c.228 others(46): Show c.2287-909_2287-908insACTGTGGATGGCGGTTGTGGGGGTCTGA T		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1273190	A A	ACATCAGA others(22): Show ACATCAGACCCCACGACCGCCATCCACAGT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	365	0.0027	29	c.228 others(46): Show c.2287-911_2287-910insACTGTGGATGGCGGTCGTGGGGTCTGAT G		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1273262	A A	ACATCAGA others(22): Show ACATCAGACCCCACGACCGCCATCCACAGT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0369 a0001c0001t0001g0369	1	365	0.0027	29	c.228 others(46): Show c.2287-983_2287-982insACTGTGGATGGCGGTCGTGGGGTCTGAT G		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1273332	A A	ACATCAGA others(22): Show ACATCAGACCCCACGACCACCATCCACAGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA19011.hp1 NA19054.hp2 HG01081.hp1 NA19011.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0178 a0001c0002t0001g0099 a0001c0002t0001g0101 a0001c0001t0001g0178 a0001c0002t0001g0099 a0001c0002t0001g0101	3	359	0.0084	29	c.228 others(48): Show c.2287-1053_2287-1052insACTGTGGATGGTGGTCGTGGGGTCTG ATG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1273332	A A	ACATCAGA others(22): Show ACATCAGACCCCACGACCGCCATCCACAGT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	357	0.0028	29	c.228 others(48): Show c.2287-1053_2287-1052insACTGTGGATGGCGGTCGTGGGGTCTG ATG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1273438	A A	ACATCAGA others(22): Show ACATCAGACCCCACGACCACCATCCACAGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	381	0.0026	29	c.228 others(48): Show c.2287-1159_2287-1158insACTGTGGATGGTGGTCGTGGGGTCTG ATG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1273438	A A	ACATCAGA others(22): Show ACATCAGACCCCACGACCGCCATCCACAGT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	381	0.0026	29	c.228 others(48): Show c.2287-1159_2287-1158insACTGTGGATGGCGGTCGTGGGGTCTG ATG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1273479	A A	ACATCAGA others(22): Show ACATCAGACCCCACGACCGCCATCCACAGT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	384	0.0026	29	c.228 others(48): Show c.2287-1200_2287-1199insACTGTGGATGGCGGTCGTGGGGTCTG ATG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TESMIN_chr11_68702440_68756520	68718167	G G	GCAGCCCC others(22): Show GCAGCCCCCAGTCAGCCCACGCCTCACCTA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(159): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp2 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18969.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19058.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19077.hp1 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0004 a0001c0005 others(5): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009 a0002c0002 a0004c0007 a0005c0010 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0004t0001 a0001c0005t0001 a0001c0009t0001 a0002c0002t0001 a0004c0007t0001 a0005c0010t0001 a0007c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(111): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0184 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0002g0017 a0001c0001t0004g0045 a0001c0001t0004g0047 a0001c0001t0007g0113 a0001c0001t0009g0138 a0001c0004t0001g0200 a0001c0004t0001g0201 a0001c0005t0001g0206 a0001c0009t0001g0060 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0004c0007t0001g0135 a0005c0010t0001g0208 a0007c0006t0001g0074	162	257	0.6304	29	c.918 others(46): Show c.918-2229_918-2228insTAGGTGAGGCGTGGGCTGACTGGGGGCT G		TESMIN	ENSG00000132749.11	transcript	ENST00000255087.10	protein_coding	6/9						chr11	TogoVar
TESMIN_chr11_68702440_68756520	68718167	G G	GCAGGCCC others(22): Show GCAGGCCCCAGTCAGCCCACGCCTCACCTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03486.hp1 HG02922.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0050 a0001c0001t0001g0051	2	97	0.0206	29	c.918 others(46): Show c.918-2229_918-2228insTAGGTGAGGCGTGGGCTGACTGGGGCCT G		TESMIN	ENSG00000132749.11	transcript	ENST00000255087.10	protein_coding	6/9						chr11	TogoVar
TESPA1_chr12_54943015_54989762	54946875	G G	GGGAAAGA others(22): Show GGGAAAGAAACTGTAAGTCGGACTGGGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0269 a0001c0001t0059g0269	1	374	0.0027	29	c.35 others(40): Show c.3516_*3517insACACCCAGTCCGACTTACAGTTTCTTTCC		TESPA1	ENSG00000135426.16	transcript	ENST00000449076.6	protein_coding					1139		chr12	TogoVar
TET1_chr10_68555337_68699487	68597030	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0212 a0003c0004t0001g0212	1	84	0.0119	29	c.191 others(48): Show c.1915-3930_1915-3929insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		TET1	ENSG00000138336.9	transcript	ENST00000373644.5	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr10	TogoVar
TEX11_chrX_70523940_70913711	70539038	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0088 a0003c0003t0001g0088	1	24	0.0417	29	c.252 others(48): Show c.2521-9040_2521-9039insATATATATATATATATATATATATAT ATA		TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	28/29						chrX	TogoVar
TEX11_chrX_70523940_70913711	70539038	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0064 a0004c0005t0001g0064	1	24	0.0417	29	c.252 others(48): Show c.2521-9040_2521-9039insAAATATATATATATATATATATATAT ATA		TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	28/29						chrX	TogoVar
TEX26_chr13_30927656_30980500	30974131	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	2	139	0.0144	29	c.809 others(44): Show c.809-714_809-713insATATATATATATATATATATATATATATA		TEX26	ENSG00000175664.10	transcript	ENST00000380473.8	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX28_chrX_154266265_154300124	154285031	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	6	0.1667	29	c.740 others(46): Show c.740+2648_740+2649insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A		TEX28	ENSG00000278057.4	transcript	ENST00000617225.5	protein_coding	3/4						chrX	TogoVar
TEX33_chr22_36986125_37012851	36999559	A A	AGAGAAGG others(22): Show AGAGAAGGGGAGGGGAGGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	289	0.0035	29	c.634 others(44): Show c.634+280_634+281insCCCTCCCCTCCCCCTCCCCTCCCCTTCTC		TEX33	ENSG00000185264.12	transcript	ENST00000381821.2	protein_coding	4/5						chr22	TogoVar
TEX33_chr22_36986125_37012851	36999582	G G	GAGGGGAG others(22): Show GAGGGGAGGGGGAGGGGAGGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0112 a0005c0006t0001g0112	1	401	0.0025	29	c.634 others(44): Show c.634+257_634+258insTCCCCTCCCCCCTCCCCTCCCCCTCCCCT		TEX33	ENSG00000185264.12	transcript	ENST00000381821.2	protein_coding	4/5						chr22	TogoVar
TEX43_chr5_126626705_126641284	126633024	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	392	0.0026	29	c.195 others(44): Show c.195+379_195+380insTATATATATATATATATATAATATATATA		TEX43	ENSG00000196900.5	transcript	ENST00000357147.4	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr5	TogoVar
TFB1M_chr6_155251134_155319484	155265729	A A	AATATATA others(22): Show AATATATATTATATATAATATATAATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	346	0.0029	29	c.667 others(46): Show c.667-5358_667-5330dupATATATTATATATTATATATAATATATA T		TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	5/6						chr6	TogoVar
TFDP2_chr3_141939428_142154544	141977107	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03195.hp1 HG02602.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0056 a0001c0002t0118 a0001c0001t0056 a0001c0002t0118	a0001c0001t0056g0030 a0001c0002t0118g0162 a0001c0001t0056g0030 a0001c0002t0118g0162	2	210	0.0095	29	c.519 others(46): Show c.519+1412_519+1413insTATATATATATATATATATATATATATA T		TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	7/12						chr3	TogoVar
TFDP3_chrX_133211662_133223354	133217319	A A	AGGTCTTC others(22): Show AGGTCTTCGGCAGAGCAGCTCCCGGACTCT	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0002 a0008c0007t0002	a0008c0007t0002g0000 a0008c0007t0002g0000	1	254	0.0039	29	c.912 others(36): Show c.912_940dupAGAGTCCGGGAGCTGCTCTGCCGAAGACC	p.Leu others(5): Show p.Leu314fs	TFDP3	ENSG00000183434.10	transcript	ENST00000310125.5	protein_coding	1/1	1035/1693	940/1218	314/405			chrX	TogoVar
TFPT_chr19_54102020_54120657	54119090	G G	GAACCACC others(22): Show GAACCACCTAAGGCCGGGTGCCGTGGCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	428	0.0023	29	c.-38 others(40): Show c.-3822_-3821insTGAGCCACGGCACCCGGCCTTAGGTGGTT		TFPT	ENSG00000105619.14	transcript	ENST00000391759.6	protein_coding					3434		chr19	TogoVar
TGM2_chr20_38122385_38170270	38149678	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp1 HG02965.hp1 others(4): Show HG00597.hp2 HG00733.hp1 HG02965.hp1 NA18969.hp2 NA18982.hp1 NA19009.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0125 a0001c0002t0002g0242 a0001c0002t0002g0261 others(4): Show a0001c0001t0001g0125 a0001c0002t0002g0242 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0266	7	230	0.0304	29	c.552 others(46): Show c.552+1260_552+1261insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding	4/12						chr20	TogoVar
TGS1_chr8_55768446_55831445	55769018	T T	TTAAAAAA others(22): Show TTAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	143	0.0070	29	c.-46 others(40): Show c.-4601_-4600insTAAAAAAAAAAAAAAAAAAAAAAAAAAAA		TGS1	ENSG00000137574.11	transcript	ENST00000260129.6	protein_coding					4427		chr8	TogoVar
THBS2_chr6_169210785_169258846	169218174	G G	GATGGATG others(22): Show GATGGATGAGTGGGTTGGTGGATGAGATGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0007 a0001c0033t0007	a0001c0033t0007g0107 a0001c0033t0007g0107	1	394	0.0025	29	c.351 others(46): Show c.3512-374_3512-346dupTCATCTCATCCACCAACCCACTCATCCA T		THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	21/21						chr6	TogoVar
THBS4_chr5_80030348_80088287	80080579	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02818.hp2 HG04228.hp1 others(3): Show HG01123.hp2 HG02818.hp2 HG04228.hp1 NA18906.hp1 NA19074.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0066 a0001c0001t0001g0078 a0001c0001t0001g0106 others(3): Show a0001c0001t0001g0066 a0001c0001t0001g0078 a0001c0001t0001g0106 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0003t0001g0238	6	123	0.0488	29	c.268 others(46): Show c.2684+527_2684+528insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		THBS4	ENSG00000113296.14	transcript	ENST00000350881.6	protein_coding	20/21					INFO_REALIGN_3_PRIME	chr5	TogoVar
THEG_chr19_356747_381026	376971	T T	TCCCCCCC others(22): Show TCCCCCCCCGTGCCCCCACCCAGCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0171 a0002c0002t0001g0171	1	319	0.0031	29	c.-10 others(40): Show c.-1002_-1001insGGAGAGGCTGGGTGGGGGCACGGGGGGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					946		chr19	TogoVar
THEG_chr19_356747_381026	377075	T T	TCCCCCCC others(22): Show TCCCCCCCCGTGCCCCCACCCAGCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	338	0.0030	29	c.-11 others(40): Show c.-1106_-1105insGGAGAGGCTGGGTGGGGGCACGGGGGGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1050		chr19	TogoVar
THEG_chr19_356747_381026	377255	T T	TCCCCCCC others(22): Show TCCCCCCCCTGTGCCCCCACCCAGCCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	360	0.0028	29	c.-12 others(40): Show c.-1286_-1285insGAGAGGCTGGGTGGGGGCACAGGGGGGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1230		chr19	TogoVar
THEG_chr19_356747_381026	377335	T T	TCCCCCTC others(22): Show TCCCCCTCTGTGCCCCCACCCAGCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	315	0.0032	29	c.-13 others(40): Show c.-1366_-1365insGGAGAGGCTGGGTGGGGGCACAGAGGGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1310		chr19	TogoVar
THEG_chr19_356747_381026	377412	T T	TCCCCCTC others(22): Show TCCCCCTCTGTGCCCCCACCCAGCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	334	0.0030	29	c.-14 others(40): Show c.-1443_-1442insGGAGAGGCTGGGTGGGGGCACAGAGGGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1387		chr19	TogoVar
THEMIS_chr6_127703200_127906058	127731864	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02040.hp2 HG02135.hp1 others(6): Show HG01070.hp2 HG02040.hp2 HG02135.hp1 HG02896.hp1 HG03669.hp1 NA18955.hp2 NA18956.hp2 NA19004.hp1 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0064 a0001c0002t0001g0140 a0002c0001t0001g0044 others(6): Show a0001c0002t0001g0064 a0001c0002t0001g0140 a0002c0001t0001g0044 a0002c0001t0001g0099 a0002c0001t0001g0168 a0002c0001t0001g0195 a0002c0001t0001g0204 a0002c0001t0001g0210 a0002c0001t0001g0221	9	14	0.6429	29	c.175 others(50): Show c.1759-12042_1759-12041insAAAAAAAAAAAAAAAAAAAAAAAA AAAAA		THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	4/5						chr6	TogoVar
THNSL2_chr2_88165346_88191627	88182369	A A	ACATCTTT others(22): Show ACATCTTTTCATGTGCTCATTGGCCATCTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	52	0.0192	29	c.803 others(44): Show c.803-329_803-301dupCATCTTTTCATGTGCTCATTGGCCATCTG		THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
THOP1_chr19_2780503_2820807	2817871	G G	GACTAAGA others(22): Show GACTAAGAACAGAGCAGGTGACCAAGGATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02145.hp1 others(15): Show HG01243.hp1 HG01891.hp2 HG02145.hp1 HG02258.hp2 HG02622.hp2 HG02647.hp2 HG02809.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03130.hp2 HG03453.hp2 HG03540.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0002c0006 a0001c0001 a0002c0005 a0002c0006	a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 others(4): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0032 a0002c0005t0008 a0002c0006t0008 a0002c0006t0022	a0001c0001t0004g0015 a0001c0001t0004g0023 a0001c0001t0004g0047 others(12): Show a0001c0001t0004g0015 a0001c0001t0004g0023 a0001c0001t0004g0047 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0066 a0001c0001t0008g0014 a0001c0001t0011g0055 a0001c0001t0011g0056 a0001c0001t0011g0058 a0001c0001t0032g0049 a0002c0005t0008g0053 a0002c0005t0008g0054 a0002c0006t0008g0057 a0002c0006t0022g0048	18	334	0.0539	29	c.45 others(40): Show c.4595_*4596insACTAAGAACAGAGCAGGTGACCAAGGATA		THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding					2065		chr19	TogoVar
THOP1_chr19_2780503_2820807	2818014	G G	GACTAAGG others(22): Show GACTAAGGTCAGAGCAGGTGACCAAGGATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02809.hp2 HG03540.hp1 HG02145.hp1 HG02809.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0055 a0001c0001t0011g0056 a0001c0001t0011g0058 a0001c0001t0011g0055 a0001c0001t0011g0056 a0001c0001t0011g0058	3	356	0.0084	29	c.47 others(40): Show c.4738_*4739insACTAAGGTCAGAGCAGGTGACCAAGGATA		THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding					2208		chr19	TogoVar
THOP1_chr19_2780503_2820807	2820684	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	191	0.0052	29	c.74 others(40): Show c.7408_*7409insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding					4878		chr19	TogoVar

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