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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BOP1_chr8_144257045_144296438 | 144286355 | AGCCCCTC others(58): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(98): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(93): Show | 101 | 398 | 0.2538 | -65 | c.309 others(82): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144286489 | CCTCAGCT others(58): Show |
C | intron_variant | MODIFIER | HG03130.hp2 HG03710.hp1 HG04184.hp2 |
a0001a0003a0008 | a0001c0025a0003c0005a0008c0029 | a0001c0025t0001a0003c0005t0001a0008c0029t0001 | a0001c0025t0001g0360a0003c0005t0001g0022a0008c0029t0001g0204 | 3 | 398 | 0.0075 | -65 | c.309 others(82): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144286556 | CCAGCTAA others(58): Show |
C | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0351 | 1 | 398 | 0.0025 | -65 | c.309 others(82): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BTF3L4_chr1_52051295_52095716 | 52081224 | GACTCCTG others(58): Show |
G | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069 | 1 | 276 | 0.0036 | -65 | c.169 others(82): Show |
BTF3L4 | ENSG00000134717.18 | transcript | ENST00000313334.13 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C19orf38_chr19_10843415_10874790 | 10874083 | AGCACTTC others(58): Show |
A | downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 384 | 0.0026 | -65 | c.*47 others(76): Show |
C19orf38 | ENSG00000214212.9 | transcript | ENST00000397820.5 | protein_coding | 4294 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 404316 | GGGGGGGA others(58): Show |
G | downstream_gene_variant | MODIFIER | HG00597.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0141 | a0001c0001t0006g0005a0001c0001t0141g0114 | 2 | 322 | 0.0062 | -65 | c.*27 others(76): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1128 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 404580 | CGGGGTCC others(58): Show |
C | downstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0022 | 1 | 322 | 0.0031 | -65 | c.*24 others(76): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 864 | chr19 | TogoVar | ||||||
C3orf33_chr3_155757617_155811278 | 155771030 | TGTGTGTG others(58): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0042 | 1 | 406 | 0.0025 | -65 | c.323 others(82): Show |
C3orf33 | ENSG00000174928.16 | transcript | ENST00000340171.7 | protein_coding | 3/4 | chr3 | TogoVar | ||||||
C8orf33_chr8_145047467_145061030 | 145052242 | CCGCCCCG others(58): Show |
C | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01106.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0002g0001others(3): Show | 29 | 406 | 0.0714 | -65 | c.-24 others(74): Show |
C8orf33 | ENSG00000182307.14 | transcript | ENST00000331434.7 | protein_coding | 224 | chr8 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 84982915 | TTTTTTGT others(58): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02895.hp1 HG02970.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0020a0001c0002t0048 | a0001c0001t0007g0059a0001c0001t0020g0097a0001c0002t0048g0096 | 3 | 146 | 0.0206 | -65 | c.61+ others(82): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | chr3 | TogoVar | ||||||
CAMKK2_chr12_121232692_121301709 | 121301050 | TCTTTTTT others(58): Show |
T | upstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 330 | 0.0030 | -65 | c.-45 others(76): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 4342 | chr12 | TogoVar | ||||||
CAMSAP2_chr1_200733893_200865704 | 200861437 | AGGGGATC others(58): Show |
A | downstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0163 | 1 | 366 | 0.0027 | -65 | c.*33 others(76): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 734 | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7310645 | TTTTTTCT others(58): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0030 | 1 | 58 | 0.0172 | -65 | c.438 others(84): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230751560 | GAGAAAGA others(58): Show |
G | intron_variant | MODIFIER | HG02809.hp2 | a0015 | a0015c0019 | a0015c0019t0003 | a0015c0019t0003g0339 | 1 | 394 | 0.0025 | -65 | c.214 others(82): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CASZ1_chr1_10631604_10801646 | 10662259 | CCACACAC others(58): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG03130.hp2 others(2): Show |
a0001a0002 | a0001c0003a0002c0037 | a0001c0003t0004a0001c0003t0006a0001c0003t0012others(2): Show | a0001c0003t0004g0168a0001c0003t0006g0052a0001c0003t0012g0194others(2): Show | 5 | 236 | 0.0212 | -65 | c.506 others(82): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 5/20 | chr1 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88942776 | TGGTTTTC others(58): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0009 | a0001c0009t0007 | a0001c0009t0007g0100 | 1 | 284 | 0.0035 | -65 | c.151 others(84): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CCDC163_chr1_45488866_45505073 | 45499365 | AGATACAG others(58): Show |
A | frameshift_variant | HIGH | NA18944.hp1 NA18969.hp1 NA18971.hp2 others(7): Show |
a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0013a0003c0003t0006g0067a0003c0003t0006g0068others(1): Show | 10 | 408 | 0.0245 | -65 | c.92_ others(71): Show |
p.Pro others(4): Show |
CCDC163 | ENSG00000280670.3 | transcript | ENST00000629482.3 | protein_coding | 2/5 | 620/2095 | 92/438 | 31/145 | chr1 | TogoVar | ||
CCDC178_chr18_32932406_33445721 | 33324641 | TACATTTT others(58): Show |
T | intron_variant | MODIFIER | HG01433.hp1 HG02258.hp1 HG03486.hp1 others(2): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0004 | a0002c0002t0001a0003c0003t0001a0004c0004t0001 | a0002c0002t0001g0033a0003c0003t0001g0014a0003c0003t0001g0018others(2): Show | 5 | 58 | 0.0862 | -65 | c.880 others(82): Show |
CCDC178 | ENSG00000166960.17 | transcript | ENST00000383096.8 | protein_coding | 10/22 | chr18 | TogoVar | ||||||
CD101_chr1_116996760_117041552 | 117029192 | AAAGAAAG others(58): Show |
A | intron_variant | MODIFIER | HG03098.hp2 HG03540.hp2 |
a0005a0016 | a0005c0007a0016c0019 | a0005c0007t0001a0016c0019t0001 | a0005c0007t0001g0373a0016c0019t0001g0121 | 2 | 426 | 0.0047 | -65 | c.282 others(84): Show |
CD101 | ENSG00000134256.13 | transcript | ENST00000682167.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CDC42BPA_chr1_226984865_227323492 | 227029881 | TCTCAGCA others(58): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0008 | a0001c0008t0065 | a0001c0008t0065g0350 | 1 | 352 | 0.0028 | -65 | c.383 others(82): Show |
CDC42BPA | ENSG00000143776.20 | transcript | ENST00000366766.8 | protein_coding | 29/36 | chr1 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61285284 | GGGCATCG others(58): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0010 | a0001c0010t0009 | a0001c0010t0009g0045 | 1 | 106 | 0.0094 | -65 | c.169 others(84): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61424201 | GCATCCAC others(58): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG03209.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0001a0001c0007t0046 | a0001c0003t0001g0020a0001c0007t0046g0066 | 2 | 106 | 0.0189 | -65 | c.169 others(86): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 91186106 | CCCTCCCC others(58): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG03130.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0021a0002c0003t0001 | a0001c0002t0021g0108a0002c0003t0001g0037 | 2 | 168 | 0.0119 | -65 | c.*29 others(84): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17419505 | GAGGAGGA others(58): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02280.hp1 others(16): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0008a0001c0009others(3): Show | a0001c0001t0006a0001c0001t0009a0001c0001t0010others(12): Show | a0001c0001t0006g0311a0001c0001t0009g0168a0001c0001t0010g0002others(16): Show | 19 | 324 | 0.0586 | -65 | c.126 others(84): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CEL_chr9_133056981_133076861 | 133071304 | CCCCCCCC others(58): Show |
C | frameshift_variant | HIGH | HG00438.hp1 HG00738.hp1 HG02647.hp2 others(3): Show |
a0001a0005 | a0001c0056a0001c0057a0001c0061others(3): Show | a0001c0056t0001a0001c0057t0001a0001c0061t0001others(3): Show | a0001c0056t0001g0008a0001c0057t0001g0008a0001c0061t0001g0006others(3): Show | 6 | 416 | 0.0144 | -65 | c.181 others(74): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1832/2381 | 1810/2262 | 604/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071337 | CCCCCCCC others(58): Show |
C | frameshift_variant | HIGH | HG01099.hp2 HG02055.hp2 HG02698.hp2 others(2): Show |
a0001a0008a0067 | a0001c0064a0001c0066a0008c0103others(2): Show | a0001c0064t0001a0001c0066t0003a0008c0103t0001others(2): Show | a0001c0064t0001g0003a0001c0066t0003g0001a0008c0103t0001g0006others(2): Show | 5 | 416 | 0.0120 | -65 | c.184 others(74): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1865/2381 | 1843/2262 | 615/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071370 | CCCCCCCC others(58): Show |
C | frameshift_variant | HIGH | HG00609.hp1 HG02258.hp1 |
a0007 | a0007c0116a0007c0215 | a0007c0116t0001a0007c0215t0001 | a0007c0116t0001g0006a0007c0215t0001g0002 | 2 | 416 | 0.0048 | -65 | c.187 others(74): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1898/2381 | 1876/2262 | 626/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071436 | CCCCCCCC others(58): Show |
C | frameshift_variant | HIGH | NA18906.hp2 NA18954.hp1 |
a0001a0065 | a0001c0197a0065c0047 | a0001c0197t0001a0065c0047t0001 | a0001c0197t0001g0002a0065c0047t0001g0036 | 2 | 416 | 0.0048 | -65 | c.194 others(74): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1964/2381 | 1942/2262 | 648/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CFAP99_chr4_2413955_2468002 | 2442922 | GGGGTGCT others(58): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG01167.hp2 others(14): Show |
a0001 | a0001c0004a0001c0006a0001c0034 | a0001c0004t0001a0001c0006t0001a0001c0034t0001 | a0001c0004t0001g0041a0001c0004t0001g0063a0001c0004t0001g0067others(14): Show | 17 | 350 | 0.0486 | -65 | c.352 others(80): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFD_chr19_854664_868641 | 861323 | CCCCCTGC others(58): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(109): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0009others(37): Show | 112 | 287 | 0.3902 | -65 | c.357 others(80): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHMP1A_chr16_89639435_89662708 | 89649132 | TCCCACCC others(58): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(89): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0008a0001c0001t0019others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0017others(85): Show | 92 | 392 | 0.2347 | -65 | c.252 others(80): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33757495 | AAAGAAAG others(58): Show |
A | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0237 | 1 | 254 | 0.0039 | -65 | c.131 others(84): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81577426 | CATCACCA others(58): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0129a0001c0001t0002g0245 | 2 | 268 | 0.0075 | -65 | c.301 others(84): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45507115 | TGGGTGCT others(58): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(157): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0002a0001c0003others(56): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(64): Show | a0001c0001t0001g0025a0001c0001t0001g0031a0001c0001t0001g0093others(157): Show | 160 | 292 | 0.5480 | -65 | c.321 others(82): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 37/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45507180 | CGGGTGCT others(58): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0019a0001c0073 | a0001c0019t0003a0001c0073t0003 | a0001c0019t0003g0065a0001c0019t0003g0139a0001c0019t0003g0170others(1): Show | 4 | 292 | 0.0137 | -65 | c.321 others(82): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 37/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45507422 | AGGTGCTG others(58): Show |
A | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0087 | 1 | 292 | 0.0034 | -65 | c.321 others(81): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 37/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101417615 | TCTAGACA others(58): Show |
T | intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0041 | 1 | 174 | 0.0058 | -65 | c.159 others(82): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
COL2A1_chr12_47967967_48009476 | 47971801 | TATAATAA others(58): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00735.hp2 HG01361.hp2 others(2): Show |
a0002a0004 | a0002c0001a0004c0017 | a0002c0001t0002a0004c0017t0001 | a0002c0001t0002g0004a0002c0001t0002g0063a0002c0001t0002g0069others(1): Show | 5 | 414 | 0.0121 | -65 | c.*15 others(76): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 1165 | chr12 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110355647 | GGGGGAGG others(58): Show |
G | intron_variant | MODIFIER | HG01346.hp1 HG03710.hp1 NA19043.hp1 |
a0001a0003 | a0001c0119a0003c0069a0003c0117 | a0001c0119t0032a0003c0069t0009a0003c0117t0006 | a0001c0119t0032g0005a0003c0069t0009g0008a0003c0117t0006g0023 | 3 | 372 | 0.0081 | -65 | c.100 others(82): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110355679 | GGGGTGGA others(58): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG03041.hp2 HG03139.hp2 |
a0001a0002a0003 | a0001c0022a0002c0065a0003c0094 | a0001c0022t0014a0002c0065t0014a0003c0094t0025 | a0001c0022t0014g0037a0002c0065t0014g0028a0003c0094t0025g0175 | 3 | 372 | 0.0081 | -65 | c.100 others(82): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110355745 | GGGGGAGG others(58): Show |
G | intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0296 | 1 | 372 | 0.0027 | -65 | c.100 others(82): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227193957 | GGAAGGAA others(58): Show |
G | intron_variant | MODIFIER | HG02040.hp2 HG02074.hp2 HG02109.hp1 others(16): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0007a0003c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(11): Show | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0230others(16): Show | 19 | 344 | 0.0552 | -65 | c.87+ others(82): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COX7A1_chr19_36145922_36157447 | 36153267 | TGCTCGAA others(58): Show |
T | upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 466 | 0.0022 | -65 | c.-92 others(74): Show |
COX7A1 | ENSG00000161281.11 | transcript | ENST00000292907.8 | protein_coding | 821 | chr19 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67475816 | TCCTTTCT others(58): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 144 | 0.0069 | -65 | c.838 others(82): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
CPEB4_chr5_173883349_173966980 | 173964522 | TTGGGGTG others(58): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(158): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0110a0001c0001t0001g0165a0001c0001t0002g0008others(138): Show | 161 | 372 | 0.4328 | -65 | c.*83 others(76): Show |
CPEB4 | ENSG00000113742.14 | transcript | ENST00000265085.10 | protein_coding | 2543 | chr5 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587807 | GCCCCCCG others(58): Show |
G | intron_variant | MODIFIER | HG02809.hp2 | a0004 | a0004c0020 | a0004c0020t0001 | a0004c0020t0001g0340 | 1 | 348 | 0.0029 | -65 | c.927 others(80): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 96787834 | GTTGGTAT others(58): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00733.hp1 others(51): Show |
a0001a0007a0008 | a0001c0001a0001c0002a0007c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0017others(51): Show | 54 | 126 | 0.4286 | -65 | c.433 others(82): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CREM_chr10_35121846_35217953 | 35150828 | AAAAGTGT others(58): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(138): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0129a0001c0001t0001g0130a0001c0001t0001g0131others(138): Show | 141 | 294 | 0.4796 | -65 | c.168 others(82): Show |
CREM | ENSG00000095794.21 | transcript | ENST00000685392.1 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CRTAC1_chr10_97860000_98035621 | 97900537 | ACCCCATA others(58): Show |
A | intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 204 | 0.0049 | -65 | c.113 others(82): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 8/14 | chr10 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1314870 | GCACTGCA others(58): Show |
G | downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 159 | 0.0063 | -65 | c.*53 others(76): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4936 | chrX | TogoVar |