Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
AMTN_chr4_70513569_70537743	70516325	CGTATATA others(31): Show CGTATATATATATATACGTATATATATACATATATATGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	360	0.0028	-38	c.-23 others(49): Show c.-2344_-2307delGTATATATATATATACGTATATATATACATATAT ATGT	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding		2243		chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145007421	GAAATCAC others(31): Show GAAATCACAACAAACTGTCTCTCAGACCACAATGCAATC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03654.hp2 HG06807.hp2 HG02818.hp2 HG03654.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0109 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0109	3	334	0.0090	-38	c.328 others(57): Show c.328-11856_328-11819delGATTGCATTGTGGTCTGAGAGACAGT TTGTTGTGATTT	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC16_chr10_72211012_72240860	72218161	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0031 a0001c0002t0019g0031	1	285	0.0035	-38	c.-28 others(55): Show c.-28+2025_-28+2062delAAAATATATATATATATATATATATATA TATATATATA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANGPTL6_chr19_10087338_10107678	10103645	GTGAGGAA others(31): Show GTGAGGAATTAATTAATTAAAATAAAAAATAAATATAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	460	0.0022	-38	c.-11 others(49): Show c.-1126_-1089delTTTATATTTATTTTTTATTTTAATTAATTAATTC CTCA	ANGPTL6	ENSG00000130812.11	transcript	ENST00000253109.5	protein_coding		968		chr19	TogoVar
ANKAR_chr2_189669670_189751647	189704544	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	48	0.0208	-38	c.170 others(55): Show c.1709-463_1709-426delTATATATATATATATATATATATATATA TATATATATA	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKHD1_chr5_140396833_140544849	140458959	TATATATA others(31): Show TATATATATATATATATATATGCATATATATATATATGC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18967.hp1 NA19001.hp2 others(2): Show HG03195.hp2 NA18967.hp1 NA19001.hp2 NA19011.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0011 a0001c0001 a0001c0007 a0001c0011	a0001c0001t0001 a0001c0007t0001 a0001c0011t0001 a0001c0001t0001 a0001c0007t0001 a0001c0011t0001	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0151 others(2): Show a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0151 a0001c0007t0001g0190 a0001c0011t0001g0321	5	319	0.0157	-38	c.148 others(55): Show c.1480+118_1481-147delGCATATATATATATATGCATATATATAT ATATATATAT	ANKHD1	ENSG00000131503.21	transcript	ENST00000360839.7	protein_coding	8/33		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKLE2_chr12_132720503_132766832	132732198	GTCCTGGT others(31): Show GTCCTGGTGTCTGATACGCACCGTGTGAAGTGCTCTGCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG01346.hp1 others(9): Show HG00140.hp2 HG00733.hp2 HG01346.hp1 HG01358.hp2 HG01928.hp2 HG01993.hp1 HG02145.hp2 HG02148.hp2 HG02615.hp2 HG03195.hp2 HG03540.hp1 NA19240.hp1	a0003 a0011 a0003 a0011	a0003c0003 a0003c0023 a0011c0019 a0003c0003 a0003c0023 a0011c0019	a0003c0003t0001 a0003c0003t0008 a0003c0003t0016 others(2): Show a0003c0003t0001 a0003c0003t0008 a0003c0003t0016 a0003c0023t0001 a0011c0019t0001	a0003c0003t0001g0119 a0003c0003t0001g0183 a0003c0003t0001g0326 others(9): Show a0003c0003t0001g0119 a0003c0003t0001g0183 a0003c0003t0001g0326 a0003c0003t0001g0330 a0003c0003t0001g0331 a0003c0003t0001g0332 a0003c0003t0001g0333 a0003c0003t0001g0334 a0003c0003t0008g0013 a0003c0003t0016g0316 a0003c0023t0001g0318 a0011c0019t0001g0244	12	347	0.0346	-38	c.189 others(57): Show c.1892-1966_1892-1929delTGCAGAGCACTTCACACGGTGCGTAT CAGACACCAGGA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	10/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132732652	GCTGGTGT others(31): Show GCTGGTGTCTGATACGCACCGTGTGAAGCTCTCTGCGTC	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04228.hp2 HG02735.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0105 a0001c0001t0001g0076 a0001c0001t0001g0105	2	347	0.0058	-38	c.189 others(57): Show c.1891+1695_1891+1732delGACGCAGAGAGCTTCACACGGTGCGT ATCAGACACCAG	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	10/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132732833	CCTCTGCG others(31): Show CCTCTGCGTGCTGGTGTCTGATATGCACCGTGTGAAGCG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	121	0.0083	-38	c.189 others(57): Show c.1891+1514_1891+1551delCGCTTCACACGGTGCATATCAGACAC CAGCACGCAGAG	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	10/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132733101	TGCGTCCT others(31): Show TGCGTCCTGGTGTCTGATATGCACCGTGTGAAGCACTGC	T T	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA19067.hp2 NA19079.hp1 NA18997.hp2 NA19067.hp2 NA19079.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0018 a0001c0001 a0016c0018	a0001c0001t0001 a0016c0018t0001 a0001c0001t0001 a0016c0018t0001	a0001c0001t0001g0254 a0001c0001t0001g0255 a0016c0018t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0016c0018t0001g0253	3	348	0.0086	-38	c.189 others(57): Show c.1891+1246_1891+1283delGCAGTGCTTCACACGGTGCATATCAG ACACCAGGACGC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	10/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132733591	ACTCTGCA others(31): Show ACTCTGCATCCTGGTGTCTGAAATGCACCGTGTGAAGCT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	122	0.0082	-38	c.189 others(55): Show c.1891+756_1891+793delAGCTTCACACGGTGCATTTCAGACACCA GGATGCAGAG	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	10/12			chr12	TogoVar
ANKRD11_chr16_89262630_89495561	89400028	AGGCCGGT others(31): Show AGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00597.hp1 others(75): Show HG00099.hp1 HG00140.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01884.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02148.hp1 HG02165.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03704.hp2 HG03927.hp2 HG03942.hp1 NA18939.hp2 NA18944.hp2 NA18945.hp1 NA18950.hp2 NA18952.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18969.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18984.hp2 NA18990.hp1 NA18994.hp1 NA18995.hp2 NA19000.hp2 NA19005.hp2 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19063.hp1 NA19067.hp1 NA19067.hp2 NA19080.hp2 NA19083.hp2 NA19085.hp2 NA20129.hp1 NA20805.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0021 a0030 a0032	a0001c0001 a0001c0007 a0002c0002 others(10): Show a0001c0001 a0001c0007 a0002c0002 a0002c0009 a0003c0003 a0003c0025 a0004c0004 a0005c0005 a0006c0010 a0007c0012 a0021c0028 a0030c0039 a0032c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0007t0001 a0002c0002t0002 a0002c0002t0008 a0002c0009t0001 a0003c0003t0001 a0003c0025t0001 a0004c0004t0001 a0005c0005t0001 a0006c0010t0001 a0007c0012t0001 a0021c0028t0001 a0030c0039t0007 a0032c0030t0001	a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0040 others(75): Show a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0222 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0281 a0001c0001t0001g0307 a0001c0001t0002g0224 a0001c0001t0006g0248 a0001c0007t0001g0235 a0002c0002t0002g0113 a0002c0002t0002g0151 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0190 a0002c0002t0002g0216 a0002c0002t0002g0223 a0002c0002t0002g0227 a0002c0002t0002g0230 a0002c0002t0002g0233 a0002c0002t0002g0240 a0002c0002t0002g0242 a0002c0002t0002g0280 a0002c0002t0002g0285 a0002c0002t0002g0289 a0002c0002t0002g0299 a0002c0002t0002g0306 a0002c0002t0008g0170 a0002c0009t0001g0294 a0002c0009t0001g0301 a0003c0003t0001g0031 a0003c0003t0001g0110 a0003c0003t0001g0162 a0003c0003t0001g0168 a0003c0003t0001g0169 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0287 a0003c0003t0001g0296 a0003c0003t0001g0298 a0003c0003t0001g0302 a0003c0003t0001g0303 a0003c0003t0001g0304 a0003c0003t0001g0305 a0003c0025t0001g0178 a0004c0004t0001g0150 a0005c0005t0001g0140 a0005c0005t0001g0172 a0006c0010t0001g0187 a0007c0012t0001g0156 a0007c0012t0001g0159 a0021c0028t0001g0203 a0030c0039t0007g0268 a0032c0030t0001g0090	78	308	0.2532	-38	c.-60 others(57): Show c.-60+18218_-60+18255delCCCAGCGCAGGGAAGCCTGGGGCAGC AGATGACCGGCC	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89400488	CGGTCATC others(31): Show CGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01256.hp1 HG01433.hp1 others(3): Show HG00639.hp2 HG01256.hp1 HG01433.hp1 HG02145.hp1 HG02976.hp2 HG03209.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0017 a0001c0001 a0002c0002 a0003c0017	a0001c0001t0001 a0002c0002t0002 a0003c0017t0003 a0001c0001t0001 a0002c0002t0002 a0003c0017t0003	a0001c0001t0001g0149 a0001c0001t0001g0194 a0001c0001t0001g0195 others(3): Show a0001c0001t0001g0149 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0002c0002t0002g0193 a0003c0017t0003g0197	6	267	0.0225	-38	c.-60 others(57): Show c.-60+17758_-60+17795delATCCCCCAGCGCAGGGAAGCCTGGGG CAGCAGATGACC	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89400525	ATGGTCAT others(31): Show ATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGC	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18966.hp1 NA19000.hp1 NA18957.hp1 NA18966.hp1 NA19000.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0191 a0001c0011t0001g0212 a0001c0011t0001g0232 a0001c0011t0001g0191 a0001c0011t0001g0212 a0001c0011t0001g0232	3	280	0.0107	-38	c.-60 others(57): Show c.-60+17721_-60+17758delGCCCCCAGCGCAGGGAAGCCTGGGGC AGCAGATGACCA	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89400716	CGGTCATC others(31): Show CGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	308	0.0032	-38	c.-60 others(57): Show c.-60+17530_-60+17567delATCCCCCAGCGCAGGGAAGCCTGGGG CAGCAGATGACC	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD36C_chr2_95844548_95996824	95862280	ACAACAAC others(31): Show ACAACAACTCTCAAAGGATTGAGTCAGAAGGATTTAAGT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0151 a0001c0006t0001g0151	1	296	0.0034	-38	c.470 others(57): Show c.4706-2244_4706-2207delACTTAAATCCTTCTGACTCAATCCTT TGAGAGTTGTTG	ANKRD36C	ENSG00000174501.15	transcript	ENST00000295246.7	protein_coding	80/87			chr2	TogoVar
ANKRD36C_chr2_95844548_95996824	95963944	AATATATA others(31): Show AATATATATATATAAATATATATATATAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG00673.hp2 others(52): Show HG00558.hp1 HG00642.hp1 HG00673.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01361.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG02004.hp1 HG02027.hp2 HG02132.hp1 HG02148.hp1 HG02523.hp2 HG04184.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18981.hp2 NA18986.hp1 NA18993.hp1 NA18999.hp2 NA19001.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19058.hp1 NA19060.hp1 NA19068.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19085.hp2 NA19088.hp2 NA19089.hp1 NA20752.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0009 a0011 a0023 a0024 a0025	a0001c0003 a0001c0006 a0002c0004 others(11): Show a0001c0003 a0001c0006 a0002c0004 a0002c0005 a0002c0007 a0002c0011 a0002c0019 a0002c0020 a0004c0052 a0009c0029 a0011c0024 a0023c0034 a0024c0030 a0025c0033	a0001c0003t0001 a0001c0006t0001 a0002c0004t0001 others(11): Show a0001c0003t0001 a0001c0006t0001 a0002c0004t0001 a0002c0005t0001 a0002c0007t0001 a0002c0011t0001 a0002c0019t0001 a0002c0020t0001 a0004c0052t0001 a0009c0029t0001 a0011c0024t0001 a0023c0034t0001 a0024c0030t0001 a0025c0033t0001	a0001c0003t0001g0170 a0001c0006t0001g0153 a0001c0006t0001g0156 others(51): Show a0001c0003t0001g0170 a0001c0006t0001g0153 a0001c0006t0001g0156 a0001c0006t0001g0157 a0001c0006t0001g0169 a0001c0006t0001g0174 a0001c0006t0001g0175 a0001c0006t0001g0177 a0002c0004t0001g0022 a0002c0004t0001g0179 a0002c0004t0001g0182 a0002c0004t0001g0196 a0002c0004t0001g0197 a0002c0004t0001g0198 a0002c0004t0001g0226 a0002c0004t0001g0233 a0002c0004t0001g0245 a0002c0004t0001g0251 a0002c0004t0001g0259 a0002c0004t0001g0267 a0002c0005t0001g0181 a0002c0005t0001g0188 a0002c0005t0001g0212 a0002c0005t0001g0213 a0002c0005t0001g0215 a0002c0005t0001g0217 a0002c0005t0001g0221 a0002c0005t0001g0222 a0002c0005t0001g0224 a0002c0005t0001g0239 a0002c0005t0001g0240 a0002c0005t0001g0242 a0002c0005t0001g0243 a0002c0005t0001g0244 a0002c0005t0001g0247 a0002c0005t0001g0265 a0002c0007t0001g0006 a0002c0007t0001g0201 a0002c0007t0001g0203 a0002c0007t0001g0207 a0002c0007t0001g0209 a0002c0007t0001g0210 a0002c0007t0001g0227 a0002c0007t0001g0257 a0002c0011t0001g0204 a0002c0011t0001g0205 a0002c0019t0001g0189 a0002c0020t0001g0218 a0004c0052t0001g0155 a0009c0029t0001g0158 a0011c0024t0001g0152 a0023c0034t0001g0266 a0024c0030t0001g0216 a0025c0033t0001g0172	55	223	0.2466	-38	c.800 others(55): Show c.800-1435_800-1398delATATATATATTTATATATATATATTTAT ATATATATAT	ANKRD36C	ENSG00000174501.15	transcript	ENST00000295246.7	protein_coding	6/87			chr2	TogoVar
ANKRD44_chr2_196981662_197315780	197035752	GCCAGTAC others(31): Show GCCAGTACTCGTCAAGCTATGACCTGGCCTCGGCTCAGC	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03704.hp2 HG03688.hp2 HG03704.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0015 a0001c0005t0005g0031 a0001c0005t0005g0015 a0001c0005t0005g0031	2	112	0.0179	-38	c.165 others(59): Show c.1651-10523_1651-10486delGCTGAGCCGAGGCCAGGTCATAGC TTGACGAGTACTGG	ANKRD44	ENSG00000065413.20	transcript	ENST00000282272.15	protein_coding	16/27			chr2	TogoVar
ANKRD46_chr8_100515772_100564759	100531009	CGCACCTG others(31): Show CGCACCTGAACTCAGGTGAGAGTTCAGCATCTGCCTGGT	C C	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	398	0.0025	-38	c.-27 others(55): Show c.-27-1187_-27-1150delACCAGGCAGATGCTGAACTCTCACCTGA GTTCAGGTGC	ANKRD46	ENSG00000186106.11	transcript	ENST00000335659.7	protein_coding	2/4			chr8	TogoVar
ANKS1A_chr6_34884255_35096406	34991675	TATATATA others(31): Show TATATATACATATATACACATATATATACATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0183 a0001c0013t0001g0183	1	317	0.0032	-38	c.130 others(57): Show c.1302+2367_1302+2404delCATATATACACATATATATACATATA TACACATATATA	ANKS1A	ENSG00000064999.16	transcript	ENST00000360359.5	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
ANKS1A_chr6_34884255_35096406	34991695	TATATATA others(31): Show TATATATACATATATACACATATATATACATATATACAC	T T	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0114 a0001c0002t0002g0114	1	318	0.0031	-38	c.130 others(57): Show c.1302+2387_1302+2424delCATATATACACATATATATACATATA TACACATATATA	ANKS1A	ENSG00000064999.16	transcript	ENST00000360359.5	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
ANO2_chr12_5557655_5950259	5818447	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG02572.hp1 others(5): Show HG01884.hp1 HG02280.hp2 HG02572.hp1 HG02717.hp1 HG02723.hp1 HG02895.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0006 a0001c0001 a0002c0003 a0002c0006	a0001c0001t0001 a0002c0003t0002 a0002c0003t0007 others(1): Show a0001c0001t0001 a0002c0003t0002 a0002c0003t0007 a0002c0006t0002	a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0069 others(5): Show a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0069 a0002c0003t0002g0155 a0002c0003t0002g0160 a0002c0003t0002g0161 a0002c0003t0007g0137 a0002c0006t0002g0154	8	15	0.5333	-38	c.892 others(55): Show c.892+9284_892+9321delTATATATATATATATATATATATATATA TATATATATA	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	7/24			chr12	TogoVar
ANO3_chr11_26327130_26668289	26564720	CACACACA others(31): Show CACACACACACACATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0049	1	170	0.0059	-38	c.144 others(57): Show c.1447+4943_1447+4980delCACACACACACATATATATATATATA TATATATATATA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26564722	CACACACA others(31): Show CACACACACACATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02523.hp1 NA18977.hp1 HG00639.hp1 HG02523.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0003 a0001c0001t0001 a0001c0004t0003	a0001c0001t0001g0101 a0001c0004t0003g0091 a0001c0004t0003g0165 a0001c0001t0001g0101 a0001c0004t0003g0091 a0001c0004t0003g0165	3	181	0.0166	-38	c.144 others(57): Show c.1447+4945_1447+4982delCACACACACATATATATATATATATA TATATATATATA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO4_chr12_100789776_101133629	101104613	GTGTATGT others(31): Show GTGTATGTATGTGTGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01258.hp1 HG02145.hp1 others(19): Show HG01081.hp2 HG01258.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02622.hp1 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02976.hp2 HG03041.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG06807.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0001c0013 a0001c0014 a0002c0004	a0001c0001t0003 a0001c0001t0012 a0001c0003t0003 others(4): Show a0001c0001t0003 a0001c0001t0012 a0001c0003t0003 a0001c0006t0003 a0001c0013t0003 a0001c0014t0002 a0002c0004t0003	a0001c0001t0003g0042 a0001c0001t0003g0052 a0001c0001t0003g0067 others(19): Show a0001c0001t0003g0042 a0001c0001t0003g0052 a0001c0001t0003g0067 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0109 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0201 a0001c0001t0003g0210 a0001c0001t0003g0229 a0001c0001t0012g0061 a0001c0003t0003g0039 a0001c0003t0003g0043 a0001c0003t0003g0055 a0001c0003t0003g0064 a0001c0003t0003g0175 a0001c0003t0003g0226 a0001c0006t0003g0176 a0001c0013t0003g0040 a0001c0014t0002g0037 a0002c0004t0003g0104	22	229	0.0961	-38	c.214 others(57): Show c.2149+4895_2149+4932delGTATGTATGTGTGTATATATATATAT ATATATATATAT	ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO7_chr2_241183677_241230976	241201218	GCAGCTTC others(31): Show GCAGCTTCCTCCAAACCTTCTGCACCGTTCACATGCCCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00544.hp1 others(77): Show HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG01081.hp1 HG01175.hp1 HG01192.hp1 HG01256.hp2 HG01433.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02896.hp2 HG02897.hp1 HG03139.hp2 HG03225.hp1 HG03491.hp2 HG03540.hp1 HG03834.hp1 HG03942.hp2 NA18612.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18990.hp2 NA18999.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19055.hp2 NA19060.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0009 a0011 a0012	a0001c0001 a0001c0008 a0001c0051 others(8): Show a0001c0001 a0001c0008 a0001c0051 a0001c0052 a0003c0004 a0003c0049 a0004c0005 a0004c0020 a0009c0016 a0011c0015 a0012c0013	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(21): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0008t0004 a0001c0008t0020 a0001c0051t0007 a0001c0052t0001 a0003c0004t0001 a0003c0004t0002 a0003c0004t0010 a0003c0004t0029 a0003c0049t0010 a0004c0005t0004 a0004c0005t0007 a0004c0020t0001 a0004c0020t0005 a0009c0016t0008 a0011c0015t0004 a0011c0015t0007 a0011c0015t0024 a0012c0013t0001	a0001c0001t0001g0007 a0001c0001t0001g0084 a0001c0001t0001g0127 others(68): Show a0001c0001t0001g0007 a0001c0001t0001g0084 a0001c0001t0001g0127 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0001g0264 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0005g0271 a0001c0001t0006g0186 a0001c0001t0012g0026 a0001c0001t0015g0169 a0001c0001t0016g0116 a0001c0008t0004g0034 a0001c0008t0004g0165 a0001c0008t0004g0168 a0001c0008t0004g0170 a0001c0008t0004g0171 a0001c0008t0004g0175 a0001c0008t0004g0177 a0001c0008t0004g0179 a0001c0008t0004g0269 a0001c0008t0020g0164 a0001c0051t0007g0266 a0001c0052t0001g0181 a0003c0004t0001g0273 a0003c0004t0001g0278 a0003c0004t0002g0004 a0003c0004t0002g0262 a0003c0004t0002g0265 a0003c0004t0002g0267 a0003c0004t0002g0268 a0003c0004t0002g0272 a0003c0004t0002g0275 a0003c0004t0002g0276 a0003c0004t0002g0277 a0003c0004t0002g0279 a0003c0004t0002g0281 a0003c0004t0010g0107 a0003c0004t0010g0110 a0003c0004t0010g0111 a0003c0004t0029g0280 a0003c0049t0010g0263 a0004c0005t0004g0166 a0004c0005t0004g0180 a0004c0005t0004g0286 a0004c0005t0007g0018 a0004c0005t0007g0019 a0004c0005t0007g0020 a0004c0005t0007g0130 a0004c0005t0007g0132 a0004c0005t0007g0133 a0004c0005t0007g0135 a0004c0005t0007g0137 a0004c0005t0007g0139 a0004c0005t0007g0140 a0004c0005t0007g0143 a0004c0020t0001g0134 a0004c0020t0005g0136 a0009c0016t0008g0115 a0011c0015t0004g0187 a0011c0015t0004g0224 a0011c0015t0007g0167 a0011c0015t0024g0329 a0012c0013t0001g0131 a0012c0013t0001g0138	80	394	0.2030	-38	c.555 others(51): Show c.555-55_555-18delCGTTCACATGCCCACAGCTTCCTCCAAACCTT CTGCAC	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANXA10_chr4_168087537_168192736	168113263	CTCTCACT others(31): Show CTCTCACTTGGTCTGGTGAGAGCCCAGTCTCTGCTTTCA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02630.hp2 others(3): Show HG01884.hp2 HG02280.hp2 HG02630.hp2 HG02895.hp2 HG02896.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 others(3): Show a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268	6	237	0.0253	-38	c.19- others(55): Show c.19-14647_19-14610delCCCAGTCTCTGCTTTCATCTCACTTGGT CTGGTGAGAG	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
AP3B1_chr5_77997326_78299698	78151872	CTCCCCAT others(31): Show CTCCCCATCCCTCCTCTCCCCCTTCCCCTCCCCCTCCCG	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02055.hp2 HG02280.hp1 others(6): Show HG01168.hp1 HG02055.hp2 HG02280.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp1 HG03486.hp1 HG03516.hp2 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0005 a0007c0013 a0001c0005 a0007c0013	a0001c0005t0001 a0001c0005t0002 a0007c0013t0002 a0001c0005t0001 a0001c0005t0002 a0007c0013t0002	a0001c0005t0001g0195 a0001c0005t0002g0004 a0001c0005t0002g0187 others(6): Show a0001c0005t0001g0195 a0001c0005t0002g0004 a0001c0005t0002g0187 a0001c0005t0002g0188 a0001c0005t0002g0189 a0001c0005t0002g0190 a0001c0005t0002g0191 a0001c0005t0002g0194 a0007c0013t0002g0193	9	224	0.0402	-38	c.147 others(57): Show c.1473+4348_1473+4385delCGGGAGGGGGAGGGGAAGGGGGAGAG GAGGGATGGGGA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	14/26			chr5	TogoVar
AP3S2_chr15_89825599_89898994	89844195	CTCTTTCT others(31): Show CTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG01081.hp2 others(2): Show HG00280.hp2 HG00639.hp1 HG01081.hp2 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0058 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0001g0059	5	306	0.0163	-38	c.346 others(55): Show c.346-6511_346-6474delAAGAAAGAAAGAAAGAAAGAAAGAGAAA GAAAGAAAGA	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89844237	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01192.hp2 HG01975.hp1 others(8): Show HG00738.hp1 HG01192.hp2 HG01975.hp1 HG02071.hp1 HG02735.hp2 HG03239.hp1 HG03490.hp1 HG03688.hp1 HG03834.hp2 HG04199.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0001g0051 others(8): Show a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0128 a0001c0001t0001g0170 a0001c0001t0001g0182 a0001c0001t0022g0042	11	303	0.0363	-38	c.346 others(55): Show c.346-6553_346-6516delGAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858469	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0185 a0001c0001t0044g0185	1	310	0.0032	-38	c.345 others(57): Show c.345+12968_345+13005delCTCTCTCTCTCTCTTTCTTTCTTTCT TTCTTTCTTTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858501	GAGAGAGA others(31): Show GAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02559.hp2 HG02970.hp2 others(3): Show HG00323.hp1 HG02559.hp2 HG02970.hp2 HG03704.hp1 NA18977.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0040 a0002c0002t0013 a0001c0001t0002 a0001c0001t0040 a0002c0002t0013	a0001c0001t0002g0012 a0001c0001t0002g0204 a0001c0001t0002g0222 others(3): Show a0001c0001t0002g0012 a0001c0001t0002g0204 a0001c0001t0002g0222 a0001c0001t0040g0224 a0002c0002t0013g0186 a0002c0002t0013g0187	6	310	0.0194	-38	c.345 others(57): Show c.345+12936_345+12973delTTCTTTCTTTCTTTCTCTCTCTCTCT CTCTCTCTCTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP4E1_chr15_50903683_51010895	51009705	TAGAGATG others(31): Show TAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0087 a0002c0002t0002g0087	1	390	0.0026	-38	c.70 others(49): Show c.7044_*7081delAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGT CTTG	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding		3811		chr15	TogoVar
APOBEC3C_chr22_39009257_39025352	39022101	TAACATGG others(31): Show TAACATGGAATGTGAGAAAGAACGCGATGATCAGGAGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0005 a0001c0001t0058g0005	1	458	0.0022	-38	c.37 others(49): Show c.3715_*3752delAACATGGAATGTGAGAAAGAACGCGATGATCAGG AGAA	APOBEC3C	ENSG00000244509.4	transcript	ENST00000361441.5	protein_coding		1750		chr22	TogoVar
AQP12B_chr2_240671418_240687885	240680882	CAGAGAGA others(31): Show CAGAGAGAGAGGAGAGACAGAGAGAGAGAGGAGAGACAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00438.hp2 others(53): Show HG00099.hp1 HG00408.hp1 HG00438.hp2 HG00597.hp1 HG00738.hp2 HG01069.hp2 HG01081.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02148.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02738.hp2 HG02976.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03704.hp2 HG03834.hp1 HG04115.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18957.hp2 NA18974.hp2 NA18986.hp2 NA18999.hp1 NA19004.hp1 NA19010.hp1 NA19059.hp2 NA19064.hp1 NA19065.hp2 NA19070.hp2 NA19082.hp2 NA19086.hp2	a0002 a0006 a0009 others(2): Show a0002 a0006 a0009 a0011 a0015	a0002c0002 a0002c0013 a0006c0006 others(3): Show a0002c0002 a0002c0013 a0006c0006 a0009c0012 a0011c0011 a0015c0017	a0002c0002t0001 a0002c0013t0001 a0006c0006t0002 others(3): Show a0002c0002t0001 a0002c0013t0001 a0006c0006t0002 a0009c0012t0001 a0011c0011t0001 a0015c0017t0001	a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0008 others(22): Show a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0013t0001g0055 a0002c0013t0001g0056 a0006c0006t0002g0025 a0006c0006t0002g0075 a0006c0006t0002g0076 a0009c0012t0001g0046 a0009c0012t0001g0049 a0011c0011t0001g0019 a0015c0017t0001g0073	56	156	0.3590	-38	c.608 others(53): Show c.608-452_608-415delCTGTCTCTCCTCTCTCTCTCTGTCTCTCCT CTCTCTCT	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding	1/2			chr2	TogoVar
AQP8_chr16_25211947_25233932	25216145	CTTTCTTT others(31): Show CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0102 a0002c0002t0002g0102	1	262	0.0038	-38	c.-90 others(47): Show c.-900_-863delTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTC TT	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding		801		chr16	TogoVar
ARHGAP20_chr11_110572043_110717437	110572740	GTTTTCCT others(31): Show GTTTTCCTATAGGTAAGTTGTTGGTTCTGTTTTCAAGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	224	0.0045	-38	c.65 others(49): Show c.6592_*6629delATCTTGAAAACAGAACCAACAACTTACCTATAGG AAAA	ARHGAP20	ENSG00000137727.13	transcript	ENST00000683387.1	protein_coding		4302		chr11	TogoVar
ARHGAP21_chr10_24578614_24728887	24622433	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	14	0.0714	-38	c.525 others(53): Show c.525+262_525+299delATATATATATATATATATATATATATATAT ATATATAT	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	8/25			chr10	TogoVar
ARHGAP24_chr4_85470150_86007666	85894963	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAAAAAACAAAACAAAAAGC	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	108	0.0093	-38	c.269 others(57): Show c.269-28664_269-28627delAAAAACAAAACAAAAAGCAAAAAAAA AAAAAAAAAAAA	ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP25_chr2_68729811_68831833	68802927	CCATATAT others(31): Show CCATATATACACATATGTGTGTGTATATATATACACACA	C C	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	366	0.0027	-38	c.467 others(55): Show c.467-4330_467-4293delGTGTGTGTATATATATACACACACATAT ATACACATAT	ARHGAP25	ENSG00000163219.12	transcript	ENST00000409202.8	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP32_chr11_128960060_129197325	129193559	TATTATAT others(31): Show TATTATATATAATATATATATATTATATAATATATGTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0188 a0001c0003t0005g0188	1	396	0.0025	-38	c.-13 others(49): Show c.-1399_-1362delTAACATATATTATATAATATATATATATTATATA TAAT	ARHGAP32	ENSG00000134909.19	transcript	ENST00000682385.1	protein_coding		1235		chr11	TogoVar
ARHGAP6_chrX_11132544_11670920	11590773	CTCGAAAA others(31): Show CTCGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02922.hp2 HG06807.hp1 others(1): Show HG02622.hp2 HG02922.hp2 HG06807.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0001c0001t0001 a0001c0001t0002 a0002c0002t0003	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0002g0127 others(1): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0002g0127 a0002c0002t0003g0011	4	125	0.0320	-38	c.588 others(57): Show c.588+73430_588+73467delCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCGA	ARHGAP6	ENSG00000047648.23	transcript	ENST00000337414.9	protein_coding	1/12			chrX	TogoVar
ARHGEF10_chr8_1818926_1963641	1832383	CAGAGGCA others(31): Show CAGAGGCAGAGACAGAGAGAGGCAGAGGCAGAGACAGAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0003 a0001c0036t0003	a0001c0036t0003g0094 a0001c0036t0003g0094	1	362	0.0028	-38	c.-48 others(55): Show c.-48+8275_-48+8312delGCAGAGACAGAGAGAGGCAGAGGCAGAG ACAGAGAGAG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF12_chr11_120331413_120494937	120351421	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA18946.hp1 NA18984.hp1 HG00741.hp2 NA18946.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0003 a0001c0001t0008 a0001c0002t0003	a0001c0001t0008g0021 a0001c0001t0008g0116 a0001c0002t0003g0031 a0001c0001t0008g0021 a0001c0001t0008g0116 a0001c0002t0003g0031	3	306	0.0098	-38	c.32+ others(55): Show c.32+14148_32+14185delATATATATATATATATATATATATATAT ATATATTTTT	ARHGEF12	ENSG00000196914.9	transcript	ENST00000397843.7	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF12_chr11_120331413_120494937	120351423	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00733.hp1 others(30): Show HG00099.hp1 HG00140.hp2 HG00733.hp1 HG01106.hp2 HG01255.hp1 HG01346.hp1 HG01515.hp2 HG01517.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp1 HG02258.hp2 HG02683.hp1 HG02965.hp2 HG03490.hp2 HG03492.hp1 HG03669.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp2 NA18942.hp2 NA18959.hp1 NA18965.hp2 NA18973.hp1 NA18998.hp1 NA18999.hp1 NA19011.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19089.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0008 a0001c0002t0003 a0001c0002t0016 others(2): Show a0001c0001t0008 a0001c0002t0003 a0001c0002t0016 a0002c0003t0002 a0002c0003t0028	a0001c0001t0008g0114 a0001c0001t0008g0115 a0001c0001t0008g0120 others(29): Show a0001c0001t0008g0114 a0001c0001t0008g0115 a0001c0001t0008g0120 a0001c0002t0003g0001 a0001c0002t0003g0024 a0001c0002t0003g0027 a0001c0002t0003g0029 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0064 a0001c0002t0003g0065 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0016g0014 a0001c0002t0016g0025 a0001c0002t0016g0026 a0002c0003t0002g0017 a0002c0003t0002g0066 a0002c0003t0002g0068 a0002c0003t0002g0069 a0002c0003t0002g0071 a0002c0003t0002g0072 a0002c0003t0002g0074 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0078 a0002c0003t0002g0082 a0002c0003t0002g0083 a0002c0003t0002g0084 a0002c0003t0002g0085 a0002c0003t0028g0067	33	259	0.1274	-38	c.32+ others(55): Show c.32+14150_32+14187delATATATATATATATATATATATATATAT ATATTTTTTT	ARHGEF12	ENSG00000196914.9	transcript	ENST00000397843.7	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF12_chr11_120331413_120494937	120351425	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG01070.hp1 others(10): Show HG00280.hp1 HG00323.hp1 HG01070.hp1 HG01071.hp2 HG01123.hp2 HG01257.hp2 HG01884.hp1 HG02897.hp1 HG03225.hp1 NA18960.hp1 NA18977.hp2 NA19005.hp2 NA19054.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0001c0002t0007 a0002c0003t0002 a0001c0002t0003 a0001c0002t0007 a0002c0003t0002	a0001c0002t0003g0015 a0001c0002t0003g0032 a0001c0002t0003g0034 others(10): Show a0001c0002t0003g0015 a0001c0002t0003g0032 a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0044 a0001c0002t0007g0041 a0001c0002t0007g0042 a0001c0002t0007g0043 a0001c0002t0007g0045 a0002c0003t0002g0070 a0002c0003t0002g0080 a0002c0003t0002g0081 a0002c0003t0002g0086	13	294	0.0442	-38	c.32+ others(55): Show c.32+14152_32+14189delATATATATATATATATATATATATATAT ATTTTTTTTT	ARHGEF12	ENSG00000196914.9	transcript	ENST00000397843.7	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF16_chr1_3449665_3486113	3466839	GGGGTACC others(31): Show GGGGTACCCAGGTCTCCTCTACGGAAATCCCTGGGAAGT	G G	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0148 a0001c0001t0017g0148	1	332	0.0030	-38	c.635 others(53): Show c.635-327_635-290delGGTACCCAGGTCTCCTCTACGGAAATCCCT GGGAAGTG	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARHGEF18_chr19_7343937_7477478	7363298	GGAGGAAA others(31): Show GGAGGAAAGATGGGTAGAAGTGTGGGTGAATGGATAAAT	G G	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0227 a0002c0004t0002g0227	1	296	0.0034	-38	c.15+ others(51): Show c.15+395_15+432delAGGAAAGATGGGTAGAAGTGTGGGTGAATGGA TAAATG	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF1_chr19_41878184_41912452	41893814	GGGGGCTG others(31): Show GGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAA	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	228	0.0044	-38	c.645 others(53): Show c.645-393_645-356delGGGGGCTGGGGGCCTGGACTCCTGGGTCTG AGGGAGGA	ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	8/28			chr19	TogoVar
ARHGEF1_chr19_41878184_41912452	41896792	CTCCTCTC others(31): Show CTCCTCTCTCACCTCCCCTCTCCTCTCTCACCTCCCCCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp1 HG01257.hp1 others(1): Show HG00099.hp1 HG01099.hp1 HG01257.hp1 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0112 others(1): Show a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0112 a0001c0001t0001g0113	4	231	0.0173	-38	c.112 others(55): Show c.1121+328_1121+365delTCTCCTCTCTCACCTCCCCCATCCTCTC TCACCTCCCC	ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr19	TogoVar

Search by Variant

Search

Search Results