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
STON1_chr2_48525154_48603513	48555804	CGGCTGGC others(43): Show CGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGG T	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00558.hp2 others(129): Show HG00408.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01358.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp2 HG03942.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18948.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18969.hp1 NA18970.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp2 NA18990.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19068.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0011 a0012 a0017	a0001c0001 a0001c0003 a0001c0019 others(9): Show a0001c0001 a0001c0003 a0001c0019 a0002c0002 a0003c0004 a0004c0009 a0005c0006 a0008c0017 a0009c0015 a0011c0018 a0012c0013 a0017c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0015 a0001c0001t0026 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0007 a0001c0003t0012 a0001c0003t0014 a0001c0003t0017 a0001c0003t0025 a0001c0003t0033 a0001c0003t0034 a0001c0003t0035 a0001c0019t0005 a0002c0002t0001 a0003c0004t0004 a0004c0009t0003 a0005c0006t0011 a0008c0017t0003 a0009c0015t0001 a0011c0018t0001 a0012c0013t0028 a0017c0023t0001	a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0031 others(129): Show a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0198 a0001c0001t0001g0207 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0308 a0001c0001t0001g0332 a0001c0001t0001g0338 a0001c0001t0001g0348 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0152 a0001c0001t0003g0235 a0001c0001t0010g0264 a0001c0001t0010g0268 a0001c0001t0010g0285 a0001c0001t0010g0303 a0001c0001t0010g0336 a0001c0001t0015g0337 a0001c0001t0026g0256 a0001c0003t0001g0041 a0001c0003t0001g0184 a0001c0003t0001g0271 a0001c0003t0001g0293 a0001c0003t0001g0310 a0001c0003t0001g0311 a0001c0003t0002g0004 a0001c0003t0002g0045 a0001c0003t0002g0046 a0001c0003t0002g0095 a0001c0003t0002g0103 a0001c0003t0002g0106 a0001c0003t0002g0108 a0001c0003t0002g0122 a0001c0003t0002g0141 a0001c0003t0002g0151 a0001c0003t0002g0175 a0001c0003t0002g0183 a0001c0003t0002g0206 a0001c0003t0002g0210 a0001c0003t0002g0272 a0001c0003t0002g0273 a0001c0003t0005g0274 a0001c0003t0005g0280 a0001c0003t0005g0287 a0001c0003t0005g0288 a0001c0003t0005g0298 a0001c0003t0005g0300 a0001c0003t0007g0056 a0001c0003t0007g0062 a0001c0003t0007g0092 a0001c0003t0007g0112 a0001c0003t0007g0231 a0001c0003t0012g0269 a0001c0003t0014g0136 a0001c0003t0017g0281 a0001c0003t0017g0289 a0001c0003t0025g0109 a0001c0003t0033g0180 a0001c0003t0034g0026 a0001c0003t0035g0027 a0001c0019t0005g0279 a0002c0002t0001g0226 a0003c0004t0004g0313 a0003c0004t0004g0314 a0003c0004t0004g0315 a0003c0004t0004g0316 a0003c0004t0004g0317 a0003c0004t0004g0318 a0003c0004t0004g0319 a0003c0004t0004g0320 a0003c0004t0004g0321 a0003c0004t0004g0323 a0003c0004t0004g0324 a0003c0004t0004g0325 a0003c0004t0004g0326 a0003c0004t0004g0327 a0003c0004t0004g0330 a0003c0004t0004g0366 a0004c0009t0003g0048 a0004c0009t0003g0063 a0005c0006t0011g0211 a0005c0006t0011g0212 a0005c0006t0011g0301 a0005c0006t0011g0304 a0005c0006t0011g0335 a0008c0017t0003g0105 a0009c0015t0001g0305 a0011c0018t0001g0174 a0012c0013t0028g0376 a0017c0023t0001g0249	132	376	0.3511	-50	c.-47 others(69): Show c.-47-24771_-47-24722delTGGGGGGGCTGACCCCCCCATCTCCC TCCCGGACGGGGTGGCTGGCCGGG		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON2_chr14_81255652_81405324	81308817	TATATATA others(43): Show TATATATATGTGTGTGTGTGTATATATATATATATACACATACATACATA C	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18949.hp2 NA18747.hp1 NA18949.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0013 a0002c0002t0001 a0002c0002t0013	a0002c0002t0001g0028 a0002c0002t0013g0136 a0002c0002t0001g0028 a0002c0002t0013g0136	2	264	0.0076	-50	c.742 others(69): Show c.742+15150_742+15199delGTATGTATGTATGTGTATATATATAT ATATACACACACACACATATATAT		STON2	ENSG00000140022.14	transcript	ENST00000614646.5	protein_coding	5/7						chr14	TogoVar
STX1B_chr16_30984256_31015638	31013340	CCTCTTCC others(43): Show CCTCTTCCTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 NA18986.hp1 HG01175.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0107 a0001c0001t0007g0123 a0001c0001t0001g0107 a0001c0001t0007g0123	2	282	0.0071	-50	c.-29 others(61): Show c.-2994_-2945delAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAAGAAGAGGAAGAG		STX1B	ENSG00000099365.11	transcript	ENST00000215095.11	protein_coding					2703		chr16	TogoVar
STXBP3_chr1_108741674_108814523	108771959	TGTATCAT others(43): Show TGTATCATATATAAATACATATGATATCTGTATCATATATAAATACATAT G	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03453.hp1 NA18952.hp2 others(5): Show HG00558.hp2 HG03453.hp1 NA18952.hp2 NA18966.hp1 NA18975.hp1 NA18978.hp1 NA18998.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0128 a0001c0001t0002g0138 others(5): Show a0001c0001t0002g0119 a0001c0001t0002g0128 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0146	8	334	0.0240	-50	c.439 others(65): Show c.439-705_439-656delGTATCATATATAAATACATATGATATCTGT ATCATATATAAATACATATG		STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18						chr1	TogoVar
STYXL1_chr7_75991342_76053000	76046299	TGTGTGTG others(43): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCG C	T T	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	1	356	0.0028	-50	c.-5+ others(65): Show c.-5+1313_-5+1362delGCGCGCGCGCACACACACACACACACACAC ACACACACACACACACACAC		STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8						chr7	TogoVar
SUMO3_chr21_44800617_44823062	44811123	TATACACA others(43): Show TATACACACAGGCACACACCCACACATACACACACAGGCACACACCCACA C	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	406	0.0025	-50	c.151 others(67): Show c.151-2055_151-2006delGTGTGGGTGTGTGCCTGTGTGTGTATGT GTGGGTGTGTGCCTGTGTGTAT		SUMO3	ENSG00000184900.16	transcript	ENST00000332859.11	protein_coding	2/3						chr21	TogoVar
SUPT3H_chr6_44821726_45382934	45288545	GTGTATAT others(43): Show GTGTATATATATATATATATGTATATATATATATATATGTATATATATAT A	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02145.hp1 HG02155.hp2 others(3): Show HG00408.hp1 HG02145.hp1 HG02155.hp2 HG06807.hp1 NA19054.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0002 a0001c0001t0010 a0001c0002t0002	a0001c0001t0010g0164 a0001c0001t0010g0165 a0001c0002t0002g0120 others(3): Show a0001c0001t0010g0164 a0001c0001t0010g0165 a0001c0002t0002g0120 a0001c0002t0002g0124 a0001c0002t0002g0135 a0001c0002t0002g0141	6	262	0.0229	-50	c.101 others(69): Show c.101+76606_101+76655delTATATATATATACATATATATATATA TATACATATATATATATATATACA		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10						chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45288563	ATGTATAT others(43): Show ATGTATATATATATATATATGTATATATATATATGTGTATATATATATAT G	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp2 HG01167.hp1 others(28): Show HG00738.hp2 HG01109.hp2 HG01167.hp1 HG01257.hp1 HG01258.hp1 HG02015.hp2 HG03492.hp2 HG03579.hp1 NA18942.hp1 NA18946.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18963.hp2 NA18972.hp1 NA18992.hp2 NA19001.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp1 NA19011.hp2 NA19063.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0002 a0001c0001t0010 a0001c0002t0002	a0001c0001t0010g0163 a0001c0002t0002g0100 a0001c0002t0002g0101 others(28): Show a0001c0001t0010g0163 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0106 a0001c0002t0002g0109 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0121 a0001c0002t0002g0123 a0001c0002t0002g0125 a0001c0002t0002g0129 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0144 a0001c0002t0002g0146 a0001c0002t0002g0149 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158	31	262	0.1183	-50	c.101 others(69): Show c.101+76588_101+76637delCATATATATATATACACATATATATA TATACATATATATATATATATACA		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10						chr6	TogoVar
SV2C_chr5_76078383_76338956	76171660	TGGGGGGT others(43): Show TGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCGTCCGGGAGGGAGGT G	T T	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02056.hp1 HG02723.hp1 others(5): Show HG01943.hp2 HG02056.hp1 HG02723.hp1 HG02895.hp1 HG02922.hp1 HG03471.hp1 NA18960.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0003 a0001c0001t0018 a0001c0002t0100 others(5): Show a0001c0001t0003 a0001c0001t0018 a0001c0002t0100 a0001c0002t0103 a0001c0002t0106 a0001c0002t0107 a0003c0004t0005 a0003c0004t0009	a0001c0001t0003g0185 a0001c0001t0018g0067 a0001c0002t0100g0206 others(5): Show a0001c0001t0003g0185 a0001c0001t0018g0067 a0001c0002t0100g0206 a0001c0002t0103g0148 a0001c0002t0106g0210 a0001c0002t0107g0207 a0003c0004t0005g0161 a0003c0004t0009g0017	8	234	0.0342	-50	c.581 others(69): Show c.581-23242_581-23193delCGCCCGGCCAGCCGTGCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCC		SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
SV2C_chr5_76078383_76338956	76171866	ACCCCGTC others(43): Show ACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCC G	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18522.hp1 HG03486.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0083 a0002c0003t0026 a0001c0001t0083 a0002c0003t0026	a0001c0001t0083g0204 a0002c0003t0026g0230 a0001c0001t0083g0204 a0002c0003t0026g0230	2	234	0.0086	-50	c.581 others(69): Show c.581-23035_581-22986delATGGGGGGGTCAGCCCCCCCACCCGG CCAGCCGCCCCGTCCGGGAGGGAG		SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
SV2C_chr5_76078383_76338956	76336054	ACCCCCCC others(43): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGTCTGA C	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00733.hp1 HG00738.hp1 others(51): Show HG00140.hp1 HG00733.hp1 HG00738.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01981.hp1 HG02083.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03130.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 HG03834.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA19030.hp2 NA19060.hp1 NA19081.hp1 NA19083.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003 a0003c0004	a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 others(40): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0024 a0001c0001t0025 a0001c0001t0031 a0001c0001t0041 a0001c0001t0047 a0001c0001t0050 a0001c0001t0075 a0001c0001t0088 a0001c0001t0090 a0001c0001t0121 a0001c0001t0126 a0001c0001t0132 a0001c0001t0133 a0001c0002t0006 a0001c0002t0013 a0001c0002t0025 a0001c0002t0029 a0001c0002t0037 a0001c0002t0089 a0001c0002t0096 a0001c0002t0099 a0001c0002t0104 a0001c0002t0105 a0001c0002t0106 a0001c0002t0107 a0001c0002t0109 a0001c0002t0110 a0001c0002t0111 a0001c0002t0146 a0001c0002t0149 a0001c0002t0150 a0001c0002t0151 a0001c0009t0031 a0001c0009t0134 a0002c0003t0013 a0002c0003t0026 a0002c0003t0049 a0002c0003t0087 a0003c0004t0009 a0003c0004t0026	a0001c0001t0008g0104 a0001c0001t0008g0127 a0001c0001t0008g0130 others(51): Show a0001c0001t0008g0104 a0001c0001t0008g0127 a0001c0001t0008g0130 a0001c0001t0008g0217 a0001c0001t0009g0008 a0001c0001t0009g0190 a0001c0001t0013g0085 a0001c0001t0024g0201 a0001c0001t0024g0203 a0001c0001t0025g0231 a0001c0001t0031g0179 a0001c0001t0041g0036 a0001c0001t0047g0046 a0001c0001t0050g0041 a0001c0001t0075g0115 a0001c0001t0088g0123 a0001c0001t0090g0106 a0001c0001t0121g0097 a0001c0001t0126g0172 a0001c0001t0132g0009 a0001c0001t0133g0157 a0001c0002t0006g0156 a0001c0002t0006g0174 a0001c0002t0006g0177 a0001c0002t0006g0192 a0001c0002t0006g0196 a0001c0002t0013g0082 a0001c0002t0025g0232 a0001c0002t0029g0141 a0001c0002t0029g0146 a0001c0002t0037g0154 a0001c0002t0037g0194 a0001c0002t0089g0081 a0001c0002t0096g0112 a0001c0002t0099g0132 a0001c0002t0104g0020 a0001c0002t0105g0117 a0001c0002t0106g0210 a0001c0002t0107g0207 a0001c0002t0109g0209 a0001c0002t0110g0124 a0001c0002t0111g0133 a0001c0002t0146g0175 a0001c0002t0149g0019 a0001c0002t0150g0191 a0001c0002t0151g0151 a0001c0009t0031g0184 a0001c0009t0134g0182 a0002c0003t0013g0226 a0002c0003t0026g0230 a0002c0003t0049g0025 a0002c0003t0087g0021 a0003c0004t0009g0017 a0003c0004t0026g0147	54	234	0.2308	-50	c.10 others(63): Show c.10508_*10557delCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGTCTGAC		SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding					2099		chr5	TogoVar
SWI5_chr9_128271276_128293989	128293220	TCAGGGGC others(43): Show TCAGGGGCAGCTGGAACCAGCACCCAGGTCTGTCTAACCCCATTCCACAC A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	386	0.0026	-50	c.45 others(61): Show c.4505_*4554delCAGGGGCAGCTGGAACCAGCACCCAGGTCTGTCT AACCCCATTCCACACA		SWI5	ENSG00000175854.15	transcript	ENST00000418976.3	protein_coding					4232		chr9	TogoVar
SWT1_chr1_185152167_185296781	185178737	GCACTTCT others(43): Show GCACTTCTTAAAGAGAACTTTAAAGATCAGTGAGATTTAAAGTTATATGG A	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0001 a0011c0020t0001	a0011c0020t0001g0131 a0011c0020t0001g0131	1	326	0.0031	-50	c.967 others(67): Show c.967-1653_967-1604delCACTTCTTAAAGAGAACTTTAAAGATCA GTGAGATTTAAAGTTATATGGA		SWT1	ENSG00000116668.13	transcript	ENST00000367500.9	protein_coding	5/18						chr1	TogoVar
SYAP1_chrX_16714612_16770340	16770167	CTAAGACT others(43): Show CTAAGACTTTGGGAGGCTGAGGTGGGCAGATTGCCTGAGCTCAGGAGTTG A	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0120 a0001c0001t0007g0120	1	290	0.0035	-50	c.98 others(61): Show c.9809_*9858delTAAGACTTTGGGAGGCTGAGGTGGGCAGATTGCC TGAGCTCAGGAGTTGA		SYAP1	ENSG00000169895.6	transcript	ENST00000380155.4	protein_coding					4828		chrX	TogoVar
SYNPO2_chr4_118883854_119066247	119007233	TATATATA others(43): Show TATATATATATATGTATATACATATATATATATATATATATATGTATATA C	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02818.hp1 others(3): Show HG01891.hp2 HG02055.hp1 HG02818.hp1 HG02895.hp2 HG02976.hp2 HG03195.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0004 a0003c0002 others(1): Show a0001c0001 a0002c0004 a0003c0002 a0005c0009	a0001c0001t0012 a0002c0004t0007 a0003c0002t0006 others(2): Show a0001c0001t0012 a0002c0004t0007 a0003c0002t0006 a0003c0002t0009 a0005c0009t0001	a0001c0001t0012g0249 a0002c0004t0007g0139 a0002c0004t0007g0301 others(3): Show a0001c0001t0012g0249 a0002c0004t0007g0139 a0002c0004t0007g0301 a0003c0002t0006g0306 a0003c0002t0009g0300 a0005c0009t0001g0004	6	310	0.0194	-50	c.106 others(69): Show c.106-16184_106-16135delGTATATACATATATATATATATATAT ATATGTATATACATATATATATAT		SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPR_chr3_63273308_63621924	63313748	TATATATA others(43): Show TATATATATCCATATATATATCCATATATATATATCCATATATATATATC C	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	246	0.0041	-50	c.84+ others(67): Show c.84+35015_84+35064delCCATATATATATCCATATATATATATCC ATATATATATATCCATATATAT		SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63595736	TATATATA others(43): Show TATATATATATATATATATATATATATATATATAATTTTATATATATATA G	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	246	0.0041	-50	c.409 others(69): Show c.409-13388_409-13339delATATATATATATATATATATATATAT ATATATAATTTTATATATATATAG		SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	4/5						chr3	TogoVar
SYNRG_chr17_37509807_37614418	37565961	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0275 a0001c0005t0005g0275	1	349	0.0029	-50	c.148 others(69): Show c.1481+2780_1481+2829delCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGCTGACCCCCCC		SYNRG	ENSG00000275066.5	transcript	ENST00000612223.5	protein_coding	11/21						chr17	TogoVar
SYT3_chr19_50616977_50644881	50619898	ATTTTATT others(43): Show ATTTTATTATTATTATTATTATTATTATTATTATTATTATACCTGGATAA T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	388	0.0026	-50	c.25 others(61): Show c.2537_*2586delATTATCCAGGTATAATAATAATAATAATAATAAT AATAATAATAATAAAA		SYT3	ENSG00000213023.11	transcript	ENST00000600079.6	protein_coding					2078		chr19	TogoVar
SYTL3_chr6_158645054_158769871	158704859	GGGCAGGG others(43): Show GGGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCC A	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02559.hp1 others(9): Show HG01884.hp2 HG02258.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02970.hp1 HG03098.hp1 HG03225.hp2 HG06807.hp1 NA19030.hp1 NA19088.hp2 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0003 a0005c0007 a0001c0001 a0004c0003 a0005c0007	a0001c0001t0001 a0001c0001t0004 a0004c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0004c0003t0001 a0004c0003t0002 a0005c0007t0001	a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0042 others(9): Show a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0071 a0001c0001t0004g0011 a0004c0003t0001g0126 a0004c0003t0001g0147 a0004c0003t0002g0008 a0005c0007t0001g0045 a0005c0007t0001g0098 a0005c0007t0001g0099 a0005c0007t0001g0189	12	292	0.0411	-50	c.395 others(67): Show c.395-2368_395-2319delCAGGGTGACAGTGAGGGCTGTAAGGCCA CATAGGGCAGGAGGGACCCAGG		SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158704910	GGGCAGGG others(43): Show GGGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCC A	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0268 a0006c0008t0001g0268	1	292	0.0034	-50	c.395 others(67): Show c.395-2317_395-2268delCAGGGTGACAGTGAGGGCTGTAAGGCCA CATAGGGCAGGAGGGACCCAGG		SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
TAAR6_chr6_132565322_132576359	132572759	TCCGAATA others(43): Show TCCGAATAATGAATGGAAATTTTATTGCTATATTGATAACAATATTGGAT C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	474	0.0021	-50	c.14 others(61): Show c.1401_*1450delCCGAATAATGAATGGAAATTTTATTGCTATATTG ATAACAATATTGGATC		TAAR6	ENSG00000146383.7	transcript	ENST00000275198.1	protein_coding					1401		chr6	TogoVar
TACR1_chr2_75041463_75204520	75154438	ACACACAC others(43): Show ACACACACACACACTCTGAAGAAACCCAGTGGAGATTCAGCACTAACCCA C	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03239.hp2 NA18988.hp1 HG02083.hp2 HG03239.hp2 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0002t0001 a0001c0001t0019 a0001c0002t0001	a0001c0001t0019g0161 a0001c0002t0001g0197 a0001c0002t0001g0264 a0001c0001t0019g0161 a0001c0002t0001g0197 a0001c0002t0001g0264	3	282	0.0106	-50	c.390 others(69): Show c.390-33720_390-33671delGTGGGTTAGTGCTGAATCTCCACTGG GTTTCTTCAGAGTGTGTGTGTGTG		TACR1	ENSG00000115353.11	transcript	ENST00000305249.10	protein_coding	1/4						chr2	TogoVar
TACR2_chr10_69398903_69421918	69409865	GTATATAT others(43): Show GTATATATATATATATACATATATACATATATATATATACATATATATAT A	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(43): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00738.hp1 HG01081.hp1 HG01109.hp2 HG01243.hp1 HG01261.hp1 HG01515.hp1 HG01517.hp2 HG01943.hp2 HG02027.hp1 HG02055.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02896.hp1 HG02970.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG04184.hp1 NA18944.hp2 NA18954.hp1 NA18955.hp2 NA18964.hp2 NA18969.hp1 NA18994.hp2 NA19004.hp1 NA19006.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19082.hp1 NA20300.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0016 a0005c0005 others(1): Show a0001c0001 a0001c0016 a0005c0005 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0016t0001 a0005c0005t0010 a0005c0005t0033 a0007c0007t0009	a0001c0001t0001g0001 a0001c0001t0001g0046 a0001c0001t0001g0149 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0046 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0002g0020 a0001c0001t0004g0014 a0001c0001t0009g0070 a0001c0001t0011g0025 a0001c0001t0014g0151 a0001c0001t0014g0157 a0001c0016t0001g0099 a0005c0005t0010g0015 a0005c0005t0010g0068 a0005c0005t0033g0174 a0007c0007t0009g0072	46	382	0.1204	-50	c.588 others(65): Show c.588-840_588-791delTATATATATATGTATATATATATATGTATA TATGTATATATATATATATA		TACR2	ENSG00000075073.16	transcript	ENST00000373306.5	protein_coding	2/4						chr10	TogoVar
TAF1A_chr1_222553312_222594933	222593733	TTTGGGAG others(43): Show TTTGGGAGGTCAAGGCAGGTGGATCACAAGGTCAGGAGTTCAAGACCAAC C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	384	0.0026	-50	c.-40 others(61): Show c.-4059_-4010delGGTTGGTCTTGAACTCCTGACCTTGTGATCCACC TGCCTTGACCTCCCAA		TAF1A	ENSG00000143498.18	transcript	ENST00000352967.9	protein_coding					3801		chr1	TogoVar
TAPBPL_chr12_6447042_6467316	6465364	ATATATAT others(43): Show ATATATATAAATGTATATATATGTATATATATATATAAATGTATATATAT G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG03139.hp1 NA19072.hp1 HG02040.hp2 HG03139.hp1 NA19072.hp1	a0002 a0002	a0002c0003 a0002c0007 a0002c0003 a0002c0007	a0002c0003t0001 a0002c0007t0002 a0002c0003t0001 a0002c0007t0002	a0002c0003t0001g0002 a0002c0007t0002g0029 a0002c0003t0001g0002 a0002c0007t0002g0029	3	460	0.0065	-50	c.32 others(61): Show c.3216_*3265delTATATATAAATGTATATATATGTATATATATATA TAAATGTATATATATG		TAPBPL	ENSG00000139192.12	transcript	ENST00000266556.8	protein_coding					3049		chr12	TogoVar
TARBP2_chr12_53496283_53511431	53498908	CTGTGTGT others(43): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00423.hp2 others(99): Show HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG01070.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01928.hp2 HG01943.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02129.hp2 HG02148.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02976.hp2 HG03098.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18969.hp2 NA18971.hp2 NA18975.hp1 NA18980.hp1 NA18983.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19057.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0003g0001 a0001c0004t0001g0006 a0001c0006t0001g0004	102	334	0.3054	-50	c.-25 others(61): Show c.-2500_-2451delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTG		TARBP2	ENSG00000139546.12	transcript	ENST00000266987.7	protein_coding					2374		chr12	TogoVar
TBC1D5_chr3_17152168_17747631	17704517	ACCTCCCG others(43): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCT C	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG01891.hp1 others(20): Show HG01109.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp2 NA18522.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0002c0002t0001 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0002g0005 a0001c0001t0002g0020 a0001c0001t0002g0045 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0004g0114 a0001c0001t0009g0123 a0001c0001t0017g0111 a0001c0001t0018g0019 a0001c0001t0022g0152 a0002c0002t0001g0154 a0003c0005t0001g0115	23	162	0.1420	-50	c.-10 others(71): Show c.-101+37914_-101+37963delGAGGTGGGGGGGGTCGGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGG		TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	1/22						chr3	TogoVar
TBL1X_chrX_9460058_9724740	9703210	GGGGAAGG others(43): Show GGGGAAGGGAAGAGATCACCAGAGAAGGGAAGGGAAGAGATCACCAGAGA A	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG01070.hp1 others(36): Show HG00438.hp2 HG00673.hp1 HG01070.hp1 HG01081.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp1 HG01943.hp1 HG01952.hp1 HG02004.hp1 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02135.hp1 HG02602.hp1 HG02683.hp1 HG03017.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG04199.hp1 NA18943.hp1 NA18955.hp1 NA18962.hp1 NA18982.hp1 NA18986.hp1 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19056.hp1 NA19066.hp1 NA19090.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0009 a0001c0001 a0001c0003 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0021 a0001c0001t0033 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0003t0018 a0002c0009t0002	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0032 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0171 a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0031 a0001c0001t0002g0154 a0001c0001t0002g0187 a0001c0001t0003g0044 a0001c0001t0003g0078 a0001c0001t0003g0112 a0001c0001t0004g0015 a0001c0001t0004g0049 a0001c0001t0004g0132 a0001c0001t0005g0011 a0001c0001t0005g0039 a0001c0001t0006g0083 a0001c0001t0008g0184 a0001c0001t0021g0174 a0001c0001t0033g0025 a0001c0001t0038g0139 a0001c0001t0039g0172 a0001c0001t0041g0052 a0001c0003t0018g0199 a0002c0009t0002g0007	39	199	0.1960	-50	c.111 others(69): Show c.1115-1706_1115-1657delGGAAGGGAAGAGATCACCAGAGAAGG GAAGGGAAGAGATCACCAGAGAAG		TBL1X	ENSG00000101849.18	transcript	ENST00000645353.2	protein_coding	12/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
TCF12_chr15_56913644_57294853	57007818	CTTTTTCT others(43): Show CTTTTTCTTTCTTTCTTTCTTTCTCTCTTTCCCTCCCTTCCTTCCTTCCT T	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0043 a0001c0001t0015g0044 a0001c0001t0015g0043 a0001c0001t0015g0044	2	330	0.0061	-50	c.149 others(69): Show c.149-55931_149-55882delTTTTTCTTTCTTTCTTTCTTTCTCTC TTTCCCTCCCTTCCTTCCTTCCTT		TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	3/20						chr15	TogoVar
TCF25_chr16_89868592_89916379	89914635	TTGTGTGT others(43): Show TTGTGTGTGTGCCTGTGTGTGTGTGCCTGTGTGTGGGGGTGCACATTTGT G	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	300	0.0033	-50	c.33 others(61): Show c.3398_*3447delTGTGTGTGTGCCTGTGTGTGTGTGCCTGTGTGTG GGGGTGCACATTTGTG		TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding					3257		chr16	TogoVar
TCF7L2_chr10_112945247_113172678	113117384	TCTCTCTC others(43): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC C	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00738.hp1 others(11): Show HG00099.hp2 HG00323.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01943.hp1 HG01981.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02717.hp1 HG03139.hp2 HG03471.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0025 a0001c0001t0038 a0001c0001t0041	a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0002g0095 others(11): Show a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0002g0095 a0001c0001t0002g0104 a0001c0001t0002g0158 a0001c0001t0003g0181 a0001c0001t0005g0065 a0001c0001t0013g0103 a0001c0001t0014g0055 a0001c0001t0017g0052 a0001c0001t0017g0071 a0001c0001t0025g0035 a0001c0001t0038g0106 a0001c0001t0041g0180	14	200	0.0700	-50	c.553 others(69): Show c.553-23775_553-23726delCTCTCTCTCTCTCTCTCTCTCTCTCC CTCTCTCTCTCTCTCTCTCTCTCT		TCF7L2	ENSG00000148737.18	transcript	ENST00000355995.9	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
TEC_chr4_48130783_48274838	48185796	CCCCTCTC others(43): Show CCCCTCTCCCATCTCCCTCCCCCTCCCCCTCTCCCATCTCCCTCTCCCTC T	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0015 a0001c0008t0015	a0001c0008t0015g0313 a0001c0008t0015g0313	1	346	0.0029	-50	c.139 others(67): Show c.139-9660_139-9611delAGAGGGAGAGGGAGATGGGAGAGGGGGA GGGGGAGGGAGATGGGAGAGGG		TEC	ENSG00000135605.13	transcript	ENST00000381501.8	protein_coding	2/17						chr4	TogoVar
TEFM_chr17_30893986_30911238	30903350	CCGAGTAG others(43): Show CCGAGTAGCTGGGACTACAGGCCCACGCCACCATGCCCAGCTAAATTTTG T	C C	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0040	1	364	0.0028	-50	c.495 others(65): Show c.495+666_495+715delACAAAATTTAGCTGGGCATGGTGGCGTGGG CCTGTAGTCCCAGCTACTCG		TEFM	ENSG00000172171.11	transcript	ENST00000581216.6	protein_coding	2/3						chr17	TogoVar
TENM2_chr5_166974029_168269157	167860007	GGGGGGGG others(43): Show GGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG T	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0021 a0001c0022t0021	a0001c0022t0021g0024 a0001c0022t0021g0024	1	54	0.0185	-50	c.503 others(69): Show c.503-15971_503-15922delTCGGCCCCCCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGG		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	167872498	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0016 a0001c0005t0016	a0001c0005t0016g0012 a0001c0005t0016g0012	1	54	0.0185	-50	c.503 others(67): Show c.503-3452_503-3403delAAGAAAGAAAGAAAGAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGA		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	168185922	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATTTGAAT T	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01192.hp1 HG01943.hp1 others(7): Show HG01081.hp2 HG01192.hp1 HG01943.hp1 HG02145.hp2 HG02602.hp1 HG02602.hp2 HG02970.hp1 HG03209.hp1 HG04204.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0021 a0001c0022 a0001c0038	a0001c0001t0001 a0001c0002t0031 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0002t0031 a0001c0003t0001 a0001c0004t0007 a0001c0004t0009 a0001c0008t0002 a0001c0021t0020 a0001c0022t0021 a0001c0038t0006	a0001c0001t0001g0045 a0001c0002t0031g0036 a0001c0003t0001g0040 others(7): Show a0001c0001t0001g0045 a0001c0002t0031g0036 a0001c0003t0001g0040 a0001c0004t0007g0010 a0001c0004t0007g0054 a0001c0004t0009g0025 a0001c0008t0002g0035 a0001c0021t0020g0021 a0001c0022t0021g0024 a0001c0038t0006g0003	10	54	0.1852	-50	c.257 others(69): Show c.2570-4395_2570-4346delATATATATATATATATATATATATTT GAATTTATATATATATATATATAT		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	15/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM4_chr11_78647829_79446030	79164243	ATAGTATA others(43): Show ATAGTATATATAGTATATAGATATACTAGTATATATAGTATATAGATATA C	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02922.hp2 HG02723.hp2 HG02922.hp2	a0001 a0001	a0001c0007 a0001c0028 a0001c0007 a0001c0028	a0001c0007t0018 a0001c0028t0060 a0001c0007t0018 a0001c0028t0060	a0001c0007t0018g0090 a0001c0028t0060g0087 a0001c0007t0018g0090 a0001c0028t0060g0087	2	94	0.0213	-50	c.-16 others(71): Show c.-162-15487_-162-15438delGTATATCTATATACTATATATACT AGTATATCTATATACTATATATACTA		TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	3/33						chr11	TogoVar
TET2_chr4_105141876_105284803	105272679	AAGCTCAG others(43): Show AAGCTCAGGAGGAGAAAAAACGGAGTGGTGCCATTCAGGTACTGAGTTCT T	A A	frameshift_variant frameshift_variant	HIGH	HG03710.hp1 HG03710.hp1	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0069 a0015c0020t0069	a0015c0020t0069g0156 a0015c0020t0069g0156	1	348	0.0029	-50	c.429 others(59): Show c.4299_4348delAGCTCAGGAGGAGAAAAAACGGAGTGGTGCCATTCA GGTACTGAGTTCTT	p.Glu others(6): Show p.Glu1433fs	TET2	ENSG00000168769.14	transcript	ENST00000380013.9	protein_coding	10/11	4595/9589	4299/6009	1433/2002			chr4	TogoVar
TET2_chr4_105141876_105284803	105284046	ATATATAT others(43): Show ATATATATATATATATATACGTGTATATATATATGTATATATATATATAC G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01175.hp2 HG02300.hp2 others(1): Show HG01109.hp2 HG01175.hp2 HG02300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0061 a0001c0001t0006 a0001c0001t0061	a0001c0001t0006g0212 a0001c0001t0006g0214 a0001c0001t0006g0319 others(1): Show a0001c0001t0006g0212 a0001c0001t0006g0214 a0001c0001t0006g0319 a0001c0001t0061g0213	4	348	0.0115	-50	c.75 others(61): Show c.7528_*7577delTATATATATATATATATACGTGTATATATATATG TATATATATATATACG		TET2	ENSG00000168769.14	transcript	ENST00000380013.9	protein_coding					4244		chr4	TogoVar
TEX11_chrX_70523940_70913711	70679782	GGGGGTCA others(43): Show GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG A	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02280.hp1 HG01261.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0093 a0001c0001t0001g0043 a0001c0001t0001g0093	2	229	0.0087	-50	c.115 others(67): Show c.1157-943_1157-894delTCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCC		TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	14/29						chrX	TogoVar
TEX11_chrX_70523940_70913711	70897649	AAGGAAGG others(43): Show AAGGAAGGAAGGAAGGAAAACAAAGAAAGAAAAAGAAAGAAAGAAAGAAA G	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0224 a0002c0002t0001g0224	1	229	0.0044	-50	c.37+ others(67): Show c.37+10054_37+10103delCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTGTTTTCCTTCCTTCCTTCCT		TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	2/29						chrX	TogoVar
TEX19_chr17_82354247_82368775	82359397	TTTCCCTC others(43): Show TTTCCCTCAAATTTCCCTCAGTTTCCCTCAGGTTCCCTAAGGTTCTCCAA G	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG02895.hp1 HG02055.hp2 HG02559.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0055 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0055	3	380	0.0079	-50	c.-27 others(67): Show c.-272+150_-272+199delAAGGTTCTCCAAGTTCCCTCAAATTTCC CTCAGTTTCCCTCAGGTTCCCT		TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr17	TogoVar
TEX19_chr17_82354247_82368775	82361325	CTTAGGTT others(43): Show CTTAGGTTTCCTCAAGTTGCCTCAGTTTCCTTCAGGTTCCCTCAATTTCC A	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0052 a0001c0002t0010g0052	1	380	0.0026	-50	c.-27 others(67): Show c.-271-553_-271-504delTAGGTTTCCTCAAGTTGCCTCAGTTTCC TTCAGGTTCCCTCAATTTCCAT		TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr17	TogoVar
TFAP2E_chr1_35568314_35600328	35576986	CCCCAGCG others(43): Show CCCCAGCGCCAGCGGGACCCCAGCGCCAGCGGGACCCCAGCGCCAGCGGG A	C C	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0269 a0001c0002t0001g0269	1	370	0.0027	-50	c.562 others(67): Show c.562+1990_562+2039delAGCGCCAGCGGGACCCCAGCGCCAGCGG GACCCCAGCGCCAGCGGGACCC		TFAP2E	ENSG00000116819.9	transcript	ENST00000373235.4	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
TFB1M_chr6_155251134_155319484	155305146	ATATAAAT others(43): Show ATATAAATATATATTAAATTATATATTTATATATATATTAAATTATATAT T	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0271 a0001c0001t0016g0271	1	348	0.0029	-50	c.285 others(67): Show c.285+5992_285+6041delAATATATAATTTAATATATATATAAATA TATAATTTAATATATATTTATA		TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6						chr6	TogoVar
TFB1M_chr6_155251134_155319484	155305463	ATATAAAT others(43): Show ATATAAATATATATTAAATTATATATATAAATATATATTAAATTATATAT T	A A	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18969.hp2 NA18974.hp1 others(4): Show NA18967.hp1 NA18969.hp2 NA18974.hp1 NA18977.hp2 NA18998.hp1 NA19003.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0279 a0001c0001t0002g0292 others(2): Show a0001c0001t0002g0007 a0001c0001t0002g0279 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294	7	348	0.0201	-50	c.285 others(67): Show c.285+5675_285+5724delAATATATAATTTAATATATATTTATATA TATAATTTAATATATATTTATA		TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6						chr6	TogoVar
TFF2_chr21_42341357_42355994	42349651	CAGACTAA others(43): Show CAGACTAACCAACCTGGGCTAGCCCCAGACTAACCAACCTGGGCTAGCTC T	C C	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	454	0.0022	-50	c.229 others(65): Show c.229+180_229+229delAGAGCTAGCCCAGGTTGGTTAGTCTGGGGC TAGCCCAGGTTGGTTAGTCT		TFF2	ENSG00000160181.9	transcript	ENST00000291526.5	protein_coding	2/3						chr21	TogoVar
TF_chr3_133741393_133801641	133785279	GCCCCGTC others(43): Show GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGACCAGCCG C	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp2 HG03579.hp1 HG06807.hp2 others(1): Show HG02818.hp2 HG03579.hp1 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0047 a0001c0009t0189 a0001c0009t0190 a0001c0009t0047 a0001c0009t0189 a0001c0009t0190	a0001c0009t0047g0013 a0001c0009t0189g0013 a0001c0009t0190g0013 a0001c0009t0047g0013 a0001c0009t0189g0013 a0001c0009t0190g0013	4	402	0.0100	-50	c.66 others(61): Show c.6663_*6712delCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCG CCCGACCAGCCGCCCC		TF	ENSG00000091513.16	transcript	ENST00000402696.9	protein_coding	17/17				6663	INFO_REALIGN_3_PRIME	chr3	TogoVar
THADA_chr2_43225851_43601038	43297502	CGGTCAGC others(43): Show CGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGG G	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0013 a0013	a0013c0039 a0013c0039	a0013c0039t0001 a0013c0039t0001	a0013c0039t0001g0124 a0013c0039t0001g0124	1	206	0.0049	-50	c.443 others(69): Show c.4439-4339_4439-4290delCCCCCACCTCCCTCCCGGACGGCACG GCTGGCCGGGCGGGGGGGCTGACC		THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37						chr2	TogoVar

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