view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM8_chr10_133257423_133281868 | 133261960 | GGGGCCGG others(81): Show |
G | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02886.hp2 |
a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0033 | 2 | 384 | 0.0052 | -88 | c.*11 others(99): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 462 | chr10 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72553037 | GAATGAAG others(81): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00741.hp2 others(101): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 others(101): Show |
104 | 179 | 0.5810 | -88 | c.98- others(103): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | |||||||
ADAMTS8_chr11_130399923_130433609 | 130431459 | TTGGCTAT others(81): Show |
T | upstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 87 | 0.0115 | -88 | c.-32 others(99): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 2851 | chr11 | TogoVar | |||||||
ADAMTSL2_chr9_133529704_133580519 | 133562689 | GGGCGGCG others(81): Show |
G | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0105 | 1 | 150 | 0.0067 | -88 | c.174 others(107): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1541150 | TCCAGACC others(81): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0029 | 1 | 99 | 0.0101 | -88 | c.101 others(109): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1542006 | TCACAGCC others(81): Show |
T | intron_variant | MODIFIER | HG02055.hp1 NA18982.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0098 a0002c0002t0002g0043 |
2 | 106 | 0.0189 | -88 | c.101 others(109): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1542117 | CAGTTCAG others(81): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0046 | 1 | 68 | 0.0147 | -88 | c.101 others(109): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1542519 | AGACCCTG others(81): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0009 | 1 | 102 | 0.0098 | -88 | c.101 others(109): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADGRA3_chr4_22382376_22521066 | 22390348 | TTATATAT others(81): Show |
T | intron_variant | MODIFIER | NA18946.hp1 NA18980.hp2 NA18983.hp1 others(2): Show |
a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0176 a0003c0010t0001g0177 a0003c0010t0001g0184 others(2): Show |
5 | 246 | 0.0203 | -88 | c.262 others(107): Show |
ADGRA3 | ENSG00000152990.14 | transcript | ENST00000334304.10 | protein_coding | 17/18 | chr4 | TogoVar | |||||||
AFTPH_chr2_64519328_64598005 | 64583420 | GTGGTGGT others(81): Show |
G | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0091 | 1 | 370 | 0.0027 | -88 | c.254 others(107): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGGF1_chr5_77025404_77070234 | 77042369 | ACTTCCCA others(81): Show |
A | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 436 | 0.0023 | -88 | c.870 others(105): Show |
AGGF1 | ENSG00000164252.13 | transcript | ENST00000312916.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15354364 | ATATAGAC others(81): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03225.hp2 NA18943.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0001 | a0001c0001t0001g0159 a0001c0001t0006g0236 a0002c0002t0001g0058 others(1): Show |
4 | 225 | 0.0178 | -88 | c.126 others(109): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107810 | CAAGAAAG others(81): Show |
C | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0188 | 1 | 376 | 0.0027 | -88 | c.168 others(105): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56397703 | AATCATTT others(81): Show |
A | intron_variant | MODIFIER | HG04199.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 a0001c0001t0002g0120 |
2 | 235 | 0.0085 | -88 | c.108 others(107): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 8/13 | chr16 | TogoVar | |||||||
ANO7_chr2_241183677_241230976 | 241218270 | TGCCGCGC others(81): Show |
T | frameshift_variant | HIGH | NA18994.hp1 | a0033 | a0033c0035 | a0033c0035t0002 | a0033c0035t0002g0318 | 1 | 394 | 0.0025 | -88 | c.221 others(97): Show |
p.Ala others(5): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 21/25 | 2315/4560 | 2218/2640 | 740/879 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
ANTXR1_chr2_69008179_69254327 | 69096282 | AAGGAAGG others(81): Show |
A | intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 127 | 0.0079 | -88 | c.703 others(105): Show |
ANTXR1 | ENSG00000169604.21 | transcript | ENST00000303714.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANXA10_chr4_168087537_168192736 | 168155444 | TGAATTAT others(81): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(85): Show |
a0001 | a0001c0001a0001c0008a0001c0009 | a0001c0001t0001a0001c0008t0001a0001c0009t0001 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(84): Show |
88 | 262 | 0.3359 | -88 | c.196 others(105): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
APOOL_chrX_84998877_85098315 | 85088067 | AATACATA others(81): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp2 others(133): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(131): Show |
136 | 254 | 0.5354 | -88 | c.*39 others(97): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 398 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1849670 | TGGCCACG others(81): Show |
T | intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0252 | 1 | 352 | 0.0028 | -88 | c.37+ others(103): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1849982 | ATGGACAC others(81): Show |
A | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0110 | 1 | 260 | 0.0038 | -88 | c.37+ others(103): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1850062 | CCGGCTGC others(81): Show |
C | intron_variant | MODIFIER | NA18941.hp1 NA18990.hp2 NA19010.hp2 |
a0001 | a0001c0003a0001c0043a0001c0132 | a0001c0003t0020a0001c0043t0002a0001c0132t0020 | a0001c0003t0020g0084 a0001c0043t0002g0106 a0001c0132t0020g0085 |
3 | 347 | 0.0086 | -88 | c.37+ others(103): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1850068 | GCGTGGAC others(81): Show |
G | intron_variant | MODIFIER | HG01515.hp2 HG02015.hp1 NA18983.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0008t0002 | a0001c0001t0002g0033 a0001c0008t0002g0099 a0001c0008t0002g0107 |
3 | 345 | 0.0087 | -88 | c.37+ others(103): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1850188 | CGTGGGGC others(81): Show |
C | intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0235 | 1 | 330 | 0.0030 | -88 | c.37+ others(103): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1888088 | GGTAGGGT others(81): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00621.hp1 others(8): Show |
a0002a0016a0024 | a0002c0032a0002c0054a0002c0060others(7): Show | a0002c0032t0010a0002c0054t0002a0002c0060t0014others(7): Show | a0002c0032t0010g0127 a0002c0054t0002g0022 a0002c0054t0002g0023 others(8): Show |
11 | 361 | 0.0305 | -88 | c.118 others(107): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1888665 | TGGGTGAG others(81): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0010 | a0010c0098 | a0010c0098t0008 | a0010c0098t0008g0258 | 1 | 321 | 0.0031 | -88 | c.118 others(107): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33269663 | CTTCCTTC others(81): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00735.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0026others(6): Show | a0001c0001t0003g0044 a0001c0001t0003g0058 a0001c0001t0004g0024 others(9): Show |
12 | 238 | 0.0504 | -88 | c.708 others(107): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25757941 | CCTAACTC others(81): Show |
C | intron_variant | MODIFIER | HG01928.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0166 | 1 | 292 | 0.0034 | -88 | c.655 others(107): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758221 | CCTAACTC others(81): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0217 | 1 | 294 | 0.0034 | -88 | c.655 others(107): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758417 | CCTAACTC others(81): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0008 | a0008c0006 | a0008c0006t0001 | a0008c0006t0001g0204 | 1 | 293 | 0.0034 | -88 | c.655 others(107): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112744281 | CGGTCTGG others(81): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0197 | 1 | 252 | 0.0040 | -88 | c.40- others(105): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112755882 | CAGAGCGG others(81): Show |
C | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 252 | 0.0040 | -88 | c.40- others(105): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804113 | TCCTCCTT others(81): Show |
T | intron_variant | MODIFIER | HG00733.hp1 NA18966.hp2 NA18995.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0007 | a0001c0001t0062a0001c0005t0002a0001c0005t0037others(2): Show | a0001c0001t0062g0138 a0001c0005t0002g0128 a0001c0005t0037g0103 others(2): Show |
5 | 141 | 0.0355 | -88 | c.163 others(103): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203624200 | GAGAAAGA others(81): Show |
G | upstream_gene_variant | MODIFIER | HG02622.hp2 HG03209.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0001t0029a0001c0002t0013others(1): Show | a0001c0001t0015g0038 a0001c0001t0029g0014 a0001c0002t0013g0157 others(1): Show |
4 | 298 | 0.0134 | -88 | c.-34 others(99): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2631 | chr1 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203624212 | GAGAAAGA others(81): Show |
G | upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0003 | a0001c0003t0057 | a0001c0003t0057g0029 | 1 | 310 | 0.0032 | -88 | c.-34 others(99): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2619 | chr1 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167875965 | ATATATAT others(81): Show |
A | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0041 | a0001c0003t0041g0115 | 1 | 116 | 0.0086 | -88 | c.*59 others(99): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1921 | chr2 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167875979 | ATATACAC others(81): Show |
A | downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0008 | 1 | 112 | 0.0089 | -88 | c.*59 others(99): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1935 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159325041 | TATTATAT others(81): Show |
T | intron_variant | MODIFIER | HG02257.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0007 | 1 | 122 | 0.0082 | -88 | c.621 others(104): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 35/36 | chr2 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32346550 | ATATATAT others(81): Show |
A | intron_variant | MODIFIER | HG02683.hp1 HG03710.hp1 HG03834.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0001a0001c0003t0013a0001c0003t0033others(1): Show | a0001c0002t0001g0179 a0001c0003t0013g0062 a0001c0003t0033g0137 others(1): Show |
4 | 286 | 0.0140 | -88 | c.276 others(107): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113257573 | TTTTTCTC others(81): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG02109.hp1 others(13): Show |
a0001a0003 | a0001c0014a0003c0007 | a0001c0014t0001a0003c0007t0002a0003c0007t0003others(2): Show | a0001c0014t0001g0108 a0003c0007t0002g0135 a0003c0007t0002g0176 others(11): Show |
16 | 384 | 0.0417 | -88 | c.376 others(105): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1435440 | AGGAGGGG others(81): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0203 | 1 | 358 | 0.0028 | -88 | c.92- others(101): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 400640 | GGGTTCCC others(81): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02572.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0001t0032a0001c0001t0077others(3): Show | a0001c0001t0004g0013 a0001c0001t0032g0030 a0001c0001t0077g0172 others(3): Show |
7 | 319 | 0.0219 | -88 | c.*63 others(99): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 4804 | chr19 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49318496 | GGGAAAGG others(81): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG01106.hp2 HG01993.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0144 a0001c0002t0001g0138 a0001c0002t0001g0223 others(4): Show |
7 | 138 | 0.0507 | -88 | c.835 others(105): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
CACNG8_chr19_53957937_53995215 | 53962674 | AGCGGTGG others(81): Show |
A | upstream_gene_variant | MODIFIER | HG01257.hp1 NA18941.hp1 NA18948.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0060 | a0001c0001t0001g0204 a0001c0001t0002g0154 a0001c0001t0060g0001 |
3 | 363 | 0.0083 | -88 | c.-46 others(97): Show |
CACNG8 | ENSG00000142408.7 | transcript | ENST00000270458.4 | protein_coding | 262 | chr19 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122645238 | TATACACA others(81): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01069.hp1 HG01243.hp2 others(3): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001a0001c0005t0004 | a0001c0002t0001g0019 a0001c0002t0001g0026 a0001c0002t0001g0038 others(3): Show |
6 | 124 | 0.0484 | -88 | c.787 others(107): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 3/29 | chr7 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12401229 | ATATATAT others(81): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0111a0001c0001t0113a0001c0002t0008others(1): Show | a0001c0001t0111g0028 a0001c0001t0113g0034 a0001c0002t0008g0113 others(1): Show |
4 | 126 | 0.0317 | -88 | c.92+ others(105): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44409080 | GATATATA others(81): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003 | 1 | 144 | 0.0069 | -88 | c.376 others(107): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44409095 | ATATATAT others(81): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp2 others(64): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0026 others(64): Show |
67 | 197 | 0.3401 | -88 | c.376 others(107): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2912719 | TATCCATC others(81): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0262 | 1 | 122 | 0.0082 | -88 | c.301 others(105): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 22/24 | chr7 | TogoVar | |||||||
CARD6_chr5_40836367_40860354 | 40850700 | GACAGAGT others(81): Show |
G | intron_variant | MODIFIER | HG02040.hp1 NA18952.hp2 NA19000.hp1 others(5): Show |
a0001a0021 | a0001c0001a0021c0021 | a0001c0001t0002a0021c0021t0002 | a0001c0001t0002g0029 a0001c0001t0002g0034 a0001c0001t0002g0141 others(1): Show |
8 | 438 | 0.0183 | -88 | c.842 others(105): Show |
CARD6 | ENSG00000132357.14 | transcript | ENST00000254691.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CASP3_chr4_184622696_184654447 | 184652966 | AAAGAAGA others(81): Show |
A | upstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0094 | 1 | 364 | 0.0027 | -88 | c.-38 others(99): Show |
CASP3 | ENSG00000164305.20 | transcript | ENST00000308394.9 | protein_coding | 3520 | chr4 | TogoVar |