regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCF1_chr6_30566442_30596522 | 30572033 | G | GAGCAAGA others(14): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 415 | 0.0024 | 21 | c.73+ others(34): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ABCF3_chr3_184181199_184199005 | 184191739 | G | GTTCCTTT others(14): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG02486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0047 | 4 | 416 | 0.0096 | 21 | c.156 others(38): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABCG4_chr11_119144052_119167653 | 119157875 | A | ACAAAACA others(14): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG02559.hp2 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0005 | a0001c0005t0001g0031a0001c0005t0005g0027 | 5 | 388 | 0.0129 | 21 | c.106 others(38): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43887143 | C | CAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 HG01934.hp1 HG02040.hp1 others(4): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0006 | a0001c0001t0001a0002c0003t0006a0002c0003t0096others(1): Show | a0001c0001t0001g0082a0001c0001t0001g0105a0001c0001t0001g0108others(4): Show | 7 | 318 | 0.0220 | 21 | c.*92 others(32): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 4156 | chr2 | TogoVar | ||||||
ABHD11_chr7_73731094_73743802 | 73741881 | A | AGTGTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 2 | 428 | 0.0047 | 21 | c.-31 others(32): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 3080 | chr7 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0287 | 1 | 376 | 0.0027 | 21 | c.-11 others(32): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0274 | 1 | 316 | 0.0032 | 21 | c.422 others(36): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0299 | 1 | 316 | 0.0032 | 21 | c.422 others(36): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0292 | 1 | 316 | 0.0032 | 21 | c.422 others(36): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80705333 | T | TTTGTGTG others(14): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02109.hp1 HG02129.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0086a0001c0001t0002g0112a0001c0001t0004g0081others(5): Show | 8 | 360 | 0.0222 | 21 | c.590 others(38): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD17C_chr15_80690310_80760621 | 80719749 | C | CATGATTT others(14): Show |
intron_variant | MODIFIER | NA18949.hp1 NA18977.hp2 NA18997.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154a0001c0001t0001g0155a0001c0001t0001g0182 | 3 | 360 | 0.0083 | 21 | c.590 others(40): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128033524 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0003 | a0003c0003 | a0003c0003t0059 | a0003c0003t0059g0135 | 1 | 344 | 0.0029 | 21 | c.134 others(40): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89205137 | T | TCTCTCTC others(14): Show |
downstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0162 | 1 | 234 | 0.0043 | 21 | c.*97 others(32): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2783 | chr15 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58246705 | A | AAGGAGAT others(14): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 302 | 0.0033 | 21 | c.-90 others(38): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABI1_chr10_26741596_26865958 | 26773215 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02257.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0159 | 2 | 358 | 0.0056 | 21 | c.463 others(38): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 3/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26851348 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0015 | 2 | 358 | 0.0056 | 21 | c.117 others(38): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203385139 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01109.hp2 HG01169.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0014 | a0001c0001t0001g0182a0001c0001t0001g0200a0001c0001t0001g0202others(30): Show | 33 | 320 | 0.1031 | 21 | c.480 others(38): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203392275 | T | TCACCACC others(14): Show |
intron_variant | MODIFIER | HG01515.hp1 HG03834.hp2 NA19062.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243a0001c0001t0001g0265a0001c0001t0001g0276others(1): Show | 4 | 320 | 0.0125 | 21 | c.578 others(38): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI3BP_chr3_100744156_100998421 | 100869330 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02818.hp1 |
a0001a0005 | a0001c0028a0005c0011 | a0001c0028t0037a0005c0011t0007 | a0001c0028t0037g0192a0005c0011t0007g0157 | 2 | 238 | 0.0084 | 21 | c.911 others(38): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 9/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100894938 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02027.hp1 HG03130.hp1 others(4): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0010a0003c0003others(3): Show | a0002c0002t0003a0002c0002t0008a0002c0010t0002others(4): Show | a0002c0002t0003g0070a0002c0002t0008g0228a0002c0010t0002g0067others(4): Show | 7 | 238 | 0.0294 | 21 | c.461 others(38): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 4/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100894965 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0027 | 1 | 238 | 0.0042 | 21 | c.461 others(38): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 4/67 | chr3 | TogoVar | ||||||
ABL2_chr1_179094330_179234677 | 179101996 | C | CTTTTTTT others(14): Show |
3_prime_UTR_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0003 | a0001c0003t0050 | a0001c0003t0050g0007 | 1 | 350 | 0.0029 | 21 | c.*57 others(32): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 12/12 | 5721 | chr1 | TogoVar | |||||
ABL2_chr1_179094330_179234677 | 179147110 | T | TCCAAAGA others(14): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0026a0001c0001t0032g0027 | 2 | 350 | 0.0057 | 21 | c.158 others(40): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
ABL2_chr1_179094330_179234677 | 179229632 | A | ACGCCGCC others(14): Show |
5_prime_UTR_variant | MODIFIER | HG02965.hp1 HG02976.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0024a0001c0004t0031 | a0001c0004t0024g0023a0001c0004t0024g0024a0001c0004t0024g0025others(2): Show | 5 | 350 | 0.0143 | 21 | c.-25 others(30): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/12 | 236 | chr1 | TogoVar | |||||
ABLIM1_chr10_114426112_114663275 | 114448604 | T | TTTATTAT others(14): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02647.hp2 HG02723.hp1 others(2): Show |
a0001a0002 | a0001c0004a0001c0007a0001c0017others(1): Show | a0001c0004t0019a0001c0007t0019a0001c0017t0011others(1): Show | a0001c0004t0019g0016a0001c0007t0019g0058a0001c0007t0019g0132others(2): Show | 5 | 256 | 0.0195 | 21 | c.159 others(38): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 14/22 | chr10 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114476646 | A | AAATAATA others(14): Show |
intron_variant | MODIFIER | HG02976.hp1 HG02976.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0023a0001c0002t0071 | a0001c0001t0001g0124a0001c0001t0023g0004a0001c0001t0023g0006others(1): Show | 4 | 256 | 0.0156 | 21 | c.104 others(40): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 8/22 | chr10 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114580187 | A | AATATTAT others(14): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0093 | a0001c0001t0093g0146 | 1 | 256 | 0.0039 | 21 | c.380 others(38): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 2/22 | chr10 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114634129 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03453.hp1 NA18991.hp2 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0008a0001c0002t0020 | a0001c0002t0005g0184a0001c0002t0008g0131a0001c0002t0020g0133 | 3 | 256 | 0.0117 | 21 | c.244 others(40): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 8131718 | G | GAGCACAG others(14): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00544.hp2 others(91): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0017a0001c0001t0001g0020a0001c0001t0001g0042others(91): Show | 94 | 322 | 0.2919 | 21 | c.11- others(38): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 1/20 | chr4 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 8131959 | A | AGCAGCCC others(14): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02280.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0007a0001c0001t0016others(4): Show | a0001c0001t0002g0010a0001c0001t0007g0112a0001c0001t0007g0308others(5): Show | 8 | 322 | 0.0248 | 21 | c.11- others(38): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 1/20 | chr4 | TogoVar | ||||||
ABLIM3_chr5_149136493_149265542 | 149224021 | C | CATGGCCA others(14): Show |
intron_variant | MODIFIER | HG04115.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0182a0001c0001t0004g0183 | 2 | 258 | 0.0078 | 21 | c.758 others(38): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 8/23 | chr5 | TogoVar | ||||||
ABRA_chr8_106754483_106775244 | 106758499 | C | CTTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | NA18939.hp1 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 2 | 440 | 0.0046 | 21 | c.*25 others(32): Show |
ABRA | ENSG00000174429.4 | transcript | ENST00000311955.4 | protein_coding | 983 | chr8 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1025119 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0053 | a0001c0002t0053g0070 | 1 | 337 | 0.0030 | 21 | c.179 others(42): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1079788 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02572.hp2 NA19030.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0001t0044a0001c0003t0025 | a0001c0001t0008g0020a0001c0001t0044g0021a0001c0003t0025g0006 | 3 | 337 | 0.0089 | 21 | c.640 others(36): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 5/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1172957 | C | CATCACCT others(14): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0009 | a0001c0009t0018 | a0001c0009t0018g0102 | 1 | 337 | 0.0030 | 21 | c.61+ others(36): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107441774 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0015 | a0015c0022 | a0015c0022t0003 | a0015c0022t0003g0048 | 1 | 186 | 0.0054 | 21 | c.113 others(42): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107445863 | T | TCCCTCTC others(14): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0145 | 1 | 186 | 0.0054 | 21 | c.113 others(42): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107508438 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0006 | a0006c0032 | a0006c0032t0008 | a0006c0032t0008g0160 | 1 | 186 | 0.0054 | 21 | c.113 others(42): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107559422 | T | TGGAAACT others(14): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02622.hp1 HG02717.hp1 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0012a0002c0015a0004c0005others(1): Show | a0001c0012t0001a0001c0012t0004a0002c0015t0007others(2): Show | a0001c0012t0001g0047a0001c0012t0004g0039a0002c0015t0007g0166others(2): Show | 5 | 186 | 0.0269 | 21 | c.149 others(42): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107648414 | A | ACACACAC others(14): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0158 | 1 | 186 | 0.0054 | 21 | c.292 others(38): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 14/16 | chr12 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37163196 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG02145.hp2 others(4): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0002a0001c0004t0005others(1): Show | a0001c0003t0001g0054a0001c0003t0001g0126a0001c0003t0001g0220others(4): Show | 7 | 299 | 0.0234 | 21 | c.508 others(40): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0004 | a0001c0004t0033 | a0001c0004t0033g0298 | 1 | 299 | 0.0033 | 21 | c.507 others(40): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG04184.hp2 HG04204.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0003 | a0001c0002t0002g0005a0001c0003t0003g0238 | 2 | 299 | 0.0067 | 21 | c.507 others(40): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 299 | 0.0033 | 21 | c.507 others(40): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 299 | 0.0033 | 21 | c.507 others(40): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37174021 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG02071.hp1 HG03239.hp1 NA18977.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0113a0001c0002t0001g0191a0001c0002t0001g0254 | 3 | 299 | 0.0100 | 21 | c.507 others(40): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37390304 | T | TTTTATAT others(14): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG02886.hp2 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0005 | a0001c0002t0001g0155a0001c0002t0001g0156a0001c0002t0001g0157others(1): Show | 4 | 299 | 0.0134 | 21 | c.38+ others(38): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37390304 | T | TTTTATAT others(14): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02818.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0005 | a0001c0002t0001g0178a0001c0004t0005g0040 | 2 | 299 | 0.0067 | 21 | c.38+ others(38): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109133864 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0124 | a0001c0124t0012 | a0001c0124t0012g0197 | 1 | 308 | 0.0033 | 21 | c.-9- others(36): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109157272 | G | GTTATTAT others(14): Show |
intron_variant | MODIFIER | HG03516.hp1 NA18522.hp1 NA19084.hp2 |
a0002a0005a0021 | a0002c0070a0005c0019a0021c0068 | a0002c0070t0005a0005c0019t0006a0021c0068t0001 | a0002c0070t0005g0199a0005c0019t0006g0076a0021c0068t0001g0202 | 3 | 308 | 0.0097 | 21 | c.654 others(38): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |