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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPQ_chr8_96640242_97148501 | 96978085 | ATCT | A | intron_variant | MODIFIER | HG02622.hp1 HG02886.hp2 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0007a0003c0005t0001g0068 | 2 | 126 | 0.0159 | -3 | c.961 others(22): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 96991553 | CATA | C | intron_variant | MODIFIER | HG00099.hp1 HG01516.hp2 HG01975.hp2 others(6): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0035a0001c0001t0001g0057a0001c0001t0002g0100others(6): Show | 9 | 126 | 0.0714 | -3 | c.961 others(22): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 97066916 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG00733.hp2 others(37): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0009a0001c0001t0001g0023a0001c0001t0001g0026others(37): Show | 40 | 126 | 0.3175 | -3 | c.125 others(20): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 97101572 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00733.hp1 others(79): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0010a0001c0001t0001g0014a0001c0001t0001g0017others(79): Show | 82 | 126 | 0.6508 | -3 | c.125 others(24): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 97122987 | TAAA | T | intron_variant | MODIFIER | HG01081.hp2 NA18949.hp2 NA19060.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049a0001c0002t0001g0058a0001c0002t0001g0069others(2): Show | 5 | 126 | 0.0397 | -3 | c.125 others(24): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 97122999 | AAAT | A | intron_variant | MODIFIER | HG01261.hp1 HG01943.hp2 HG01981.hp1 others(15): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0001t0002g0011a0001c0001t0002g0012a0001c0001t0002g0013others(15): Show | 18 | 126 | 0.1429 | -3 | c.125 others(24): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 97123208 | AAAT | A | intron_variant | MODIFIER | HG01081.hp2 HG01978.hp2 HG02040.hp2 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0028a0001c0001t0001g0031others(22): Show | 25 | 126 | 0.1984 | -3 | c.125 others(24): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 97130420 | GTTT | G | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02109.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0002t0001g0005others(3): Show | 6 | 126 | 0.0476 | -3 | c.125 others(24): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 97148133 | CAGA | C | downstream_gene_variant | MODIFIER | HG02630.hp2 NA19030.hp2 NA19043.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0092a0001c0002t0001g0093a0001c0002t0001g0094 | 3 | 126 | 0.0238 | -3 | c.*49 others(14): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4633 | chr8 | TogoVar | ||||||
CPS1_chr2_210551599_210684107 | 210655075 | CTTT | C | intron_variant | MODIFIER | HG00733.hp2 HG01168.hp2 HG01169.hp1 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0010a0001c0001t0017a0001c0006t0006others(9): Show | a0001c0001t0010g0303a0001c0001t0017g0322a0001c0006t0006g0016others(20): Show | 23 | 340 | 0.0677 | -3 | c.355 others(20): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 29/37 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CPSF2_chr14_92116969_92177145 | 92135536 | GTAT | G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02895.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0042a0001c0001t0114a0001c0001t0115others(8): Show | a0001c0001t0042g0252a0001c0001t0042g0257a0001c0001t0114g0254others(9): Show | 12 | 388 | 0.0309 | -3 | c.545 others(16): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CPSF2_chr14_92116969_92177145 | 92137050 | TGCA | T | intron_variant | MODIFIER | HG01109.hp2 HG02257.hp2 HG02559.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0094 | a0001c0001t0014g0246a0001c0001t0014g0248a0001c0001t0014g0249others(2): Show | 5 | 388 | 0.0129 | -3 | c.546 others(20): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CPSF2_chr14_92116969_92177145 | 92143799 | CGTT | C | intron_variant | MODIFIER | HG01109.hp2 HG02257.hp2 HG02559.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0094 | a0001c0001t0014g0246a0001c0001t0014g0248a0001c0001t0014g0249others(2): Show | 5 | 388 | 0.0129 | -3 | c.114 others(20): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CPSF2_chr14_92116969_92177145 | 92152010 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp2 others(89): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(34): Show | a0001c0001t0003g0009a0001c0001t0003g0010a0001c0001t0003g0025others(88): Show | 92 | 388 | 0.2371 | -3 | c.114 others(22): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CPSF2_chr14_92116969_92177145 | 92169099 | AAAG | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp2 others(131): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(64): Show | a0001c0001t0003g0009a0001c0001t0003g0010a0001c0001t0003g0025others(125): Show | 134 | 388 | 0.3454 | -3 | c.*73 others(14): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 16/16 | 7359 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||
CPSF2_chr14_92116969_92177145 | 92169649 | ATTT | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(134): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(60): Show | a0001c0001t0003g0009a0001c0001t0003g0010a0001c0001t0003g0025others(126): Show | 137 | 388 | 0.3531 | -3 | c.*79 others(14): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 16/16 | 7925 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||
CPSF2_chr14_92116969_92177145 | 92173438 | TATA | T | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(13): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0012others(41): Show | 49 | 388 | 0.1263 | -3 | c.*11 others(16): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 1294 | chr14 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92173440 | TATA | T | downstream_gene_variant | MODIFIER | HG02155.hp2 HG02683.hp2 HG03239.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0023others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0164a0001c0001t0001g0171others(8): Show | 12 | 388 | 0.0309 | -3 | c.*11 others(16): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 1296 | chr14 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92173442 | TATA | T | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01175.hp1 HG02895.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0001g0110a0001c0001t0005g0002a0001c0001t0005g0018others(6): Show | 11 | 388 | 0.0284 | -3 | c.*11 others(16): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 1298 | chr14 | TogoVar | ||||||
CPSF3_chr2_9418654_9478101 | 9420668 | CAGG | C | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02280.hp2 HG02809.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0182a0001c0001t0001g0183a0001c0001t0001g0184others(1): Show | 4 | 230 | 0.0174 | -3 | c.-31 others(14): Show |
CPSF3 | ENSG00000119203.14 | transcript | ENST00000238112.8 | protein_coding | 2985 | chr2 | TogoVar | ||||||
CPSF3_chr2_9418654_9478101 | 9444155 | TATA | T | intron_variant | MODIFIER | HG00639.hp2 HG02615.hp1 NA21309.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0151a0001c0002t0001g0153a0001c0002t0001g0171 | 3 | 230 | 0.0130 | -3 | c.124 others(20): Show |
CPSF3 | ENSG00000119203.14 | transcript | ENST00000238112.8 | protein_coding | 10/17 | chr2 | TogoVar | ||||||
CPSF3_chr2_9418654_9478101 | 9448408 | ACTT | A | intron_variant | MODIFIER | HG01433.hp2 HG03239.hp1 HG03654.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0029others(1): Show | 5 | 230 | 0.0217 | -3 | c.139 others(18): Show |
CPSF3 | ENSG00000119203.14 | transcript | ENST00000238112.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CPSF3_chr2_9418654_9478101 | 9454539 | CTTT | C | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02647.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0170a0001c0002t0001g0008a0001c0002t0001g0162others(2): Show | 6 | 230 | 0.0261 | -3 | c.150 others(22): Show |
CPSF3 | ENSG00000119203.14 | transcript | ENST00000238112.8 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CPSF3_chr2_9418654_9478101 | 9476172 | TAGG | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00639.hp2 others(82): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(77): Show | 85 | 230 | 0.3696 | -3 | c.*31 others(14): Show |
CPSF3 | ENSG00000119203.14 | transcript | ENST00000238112.8 | protein_coding | 3072 | chr2 | TogoVar | ||||||
CPSF4L_chr17_73243449_73266880 | 73244559 | CAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(168): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(67): Show | 171 | 398 | 0.4297 | -3 | c.*39 others(14): Show |
CPSF4L | ENSG00000187959.9 | transcript | ENST00000344935.8 | protein_coding | 3889 | chr17 | TogoVar | ||||||
CPSF4L_chr17_73243449_73266880 | 73244876 | AAAG | A | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG02145.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0023a0001c0001t0001g0060others(4): Show | 13 | 398 | 0.0327 | -3 | c.*36 others(14): Show |
CPSF4L | ENSG00000187959.9 | transcript | ENST00000344935.8 | protein_coding | 3572 | chr17 | TogoVar | ||||||
CPSF4_chr7_99433943_99462373 | 99436616 | AAAC | A | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01891.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0086a0001c0003t0002g0091a0001c0003t0002g0095others(1): Show | 4 | 364 | 0.0110 | -3 | c.-24 others(14): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 2326 | chr7 | TogoVar | ||||||
CPSF4_chr7_99433943_99462373 | 99453801 | TCAC | T | intron_variant | MODIFIER | HG02258.hp1 HG02809.hp1 HG02970.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0087a0001c0003t0002g0088a0001c0003t0002g0089others(3): Show | 6 | 364 | 0.0165 | -3 | c.571 others(18): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPSF6_chr12_69234569_69279358 | 69247449 | ACAG | A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp2 others(63): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(12): Show | a0001c0001t0003g0001a0001c0001t0003g0020a0001c0001t0003g0024others(38): Show | 66 | 392 | 0.1684 | -3 | c.61- others(18): Show |
CPSF6 | ENSG00000111605.18 | transcript | ENST00000435070.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CPSF7_chr11_61397729_61434975 | 61410479 | AATG | A | intron_variant | MODIFIER | HG01243.hp2 HG01261.hp2 HG01891.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0111others(9): Show | 14 | 190 | 0.0737 | -3 | c.*5+ others(16): Show |
CPSF7 | ENSG00000149532.16 | transcript | ENST00000439958.8 | protein_coding | 9/9 | chr11 | TogoVar | ||||||
CPSF7_chr11_61397729_61434975 | 61423169 | CTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01261.hp2 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(39): Show | 52 | 190 | 0.2737 | -3 | c.55- others(18): Show |
CPSF7 | ENSG00000149532.16 | transcript | ENST00000439958.8 | protein_coding | 2/9 | chr11 | TogoVar | ||||||
CPT1A_chr11_68749883_68846916 | 68758840 | ACTC | A | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01081.hp1 others(29): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0002a0001c0002t0002a0001c0002t0010others(2): Show | a0001c0001t0002g0131a0001c0001t0002g0132a0001c0001t0002g0145others(29): Show | 32 | 236 | 0.1356 | -3 | c.223 others(20): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 18/18 | chr11 | TogoVar | ||||||
CPT1A_chr11_68749883_68846916 | 68768322 | ACCT | A | intron_variant | MODIFIER | HG02896.hp2 HG03453.hp2 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0001t0031a0001c0002t0002 | a0001c0001t0014g0138a0001c0001t0031g0101a0001c0002t0002g0220 | 3 | 236 | 0.0127 | -3 | c.174 others(22): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 14/18 | chr11 | TogoVar | ||||||
CPT1A_chr11_68749883_68846916 | 68802896 | CAAA | C | intron_variant | MODIFIER | HG02723.hp1 HG02965.hp1 HG03471.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(2): Show | a0001c0001t0001g0224a0001c0001t0003g0222a0001c0001t0015g0223others(3): Show | 6 | 236 | 0.0254 | -3 | c.555 others(20): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 5/18 | chr11 | TogoVar | ||||||
CPT1A_chr11_68749883_68846916 | 68806633 | GAAA | G | intron_variant | MODIFIER | HG00609.hp1 HG01243.hp1 HG02258.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0030others(5): Show | a0001c0001t0002g0006a0001c0001t0009g0023a0001c0001t0009g0054others(12): Show | 15 | 236 | 0.0636 | -3 | c.453 others(18): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 4/18 | chr11 | TogoVar | ||||||
CPT1A_chr11_68749883_68846916 | 68819520 | TCTC | T | intron_variant | MODIFIER | HG01109.hp2 HG03471.hp2 HG03486.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0003a0001c0001t0014a0002c0006t0011 | a0001c0001t0003g0018a0001c0001t0014g0106a0002c0006t0011g0036others(1): Show | 4 | 236 | 0.0170 | -3 | c.-13 others(20): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 1/18 | chr11 | TogoVar | ||||||
CPT1B_chr22_50563861_50583427 | 50565797 | CTTT | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(153): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0001c0013others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0028others(37): Show | 156 | 414 | 0.3768 | -3 | c.*32 others(14): Show |
CPT1B | ENSG00000205560.13 | transcript | ENST00000312108.12 | protein_coding | 3063 | chr22 | TogoVar | ||||||
CPT1C_chr19_49686116_49718731 | 49688102 | CCCG | C | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0160a0001c0001t0001g0161a0001c0001t0001g0163others(4): Show | 7 | 350 | 0.0200 | -3 | c.-33 others(14): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 3013 | chr19 | TogoVar | ||||||
CPT1C_chr19_49686116_49718731 | 49694084 | TAAA | T | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG00741.hp2 others(17): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0005others(1): Show | a0001c0002t0002a0001c0004t0002a0002c0005t0002others(1): Show | a0001c0002t0002g0010a0001c0002t0002g0192a0001c0002t0002g0194others(16): Show | 20 | 350 | 0.0571 | -3 | c.141 others(20): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CPT1C_chr19_49686116_49718731 | 49699457 | TAAA | T | intron_variant | MODIFIER | HG00735.hp1 HG02083.hp2 HG02257.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0123a0001c0001t0001g0175a0001c0001t0002g0009others(7): Show | 11 | 350 | 0.0314 | -3 | c.282 others(20): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CPT1C_chr19_49686116_49718731 | 49700262 | CAAA | C | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG00741.hp2 others(18): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0005others(1): Show | a0001c0002t0002a0001c0004t0002a0002c0005t0002others(1): Show | a0001c0002t0002g0010a0001c0002t0002g0190a0001c0002t0002g0192others(17): Show | 21 | 350 | 0.0600 | -3 | c.282 others(18): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CPT1C_chr19_49686116_49718731 | 49701865 | ATAG | A | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG00741.hp2 others(18): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0005others(1): Show | a0001c0002t0002a0001c0004t0002a0002c0005t0002others(1): Show | a0001c0002t0002g0010a0001c0002t0002g0190a0001c0002t0002g0192others(17): Show | 21 | 350 | 0.0600 | -3 | c.693 others(18): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CPT1C_chr19_49686116_49718731 | 49702021 | TAAA | T | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG00741.hp2 others(17): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0005others(1): Show | a0001c0002t0002a0001c0004t0002a0002c0005t0002others(1): Show | a0001c0002t0002g0010a0001c0002t0002g0190a0001c0002t0002g0192others(16): Show | 20 | 350 | 0.0571 | -3 | c.693 others(18): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | chr19 | TogoVar | ||||||
CPT1C_chr19_49686116_49718731 | 49702023 | AATT | A | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00621.hp2 others(49): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0131a0001c0001t0001g0149a0001c0001t0001g0159others(47): Show | 52 | 350 | 0.1486 | -3 | c.693 others(18): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CPT1C_chr19_49686116_49718731 | 49702048 | AATT | A | intron_variant | MODIFIER | HG02451.hp1 HG02922.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0105a0001c0001t0006g0069a0001c0001t0006g0070 | 3 | 350 | 0.0086 | -3 | c.693 others(18): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CPVL_chr7_28990235_29151537 | 29007391 | ATTG | A | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01255.hp2 others(23): Show |
a0001a0011 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0004t0001others(4): Show | a0001c0001t0002g0160a0001c0001t0002g0162a0001c0001t0002g0174others(23): Show | 26 | 282 | 0.0922 | -3 | c.132 others(24): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
CPVL_chr7_28990235_29151537 | 29033206 | TAAG | T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01081.hp2 others(39): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0004a0004c0005others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0004t0001others(6): Show | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0001g0043others(39): Show | 42 | 282 | 0.1489 | -3 | c.113 others(22): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 11/12 | chr7 | TogoVar | ||||||
CPVL_chr7_28990235_29151537 | 29075744 | CTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01081.hp1 others(20): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0043a0001c0001t0001g0132a0001c0001t0001g0134others(20): Show | 23 | 282 | 0.0816 | -3 | c.610 others(20): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 7/12 | chr7 | TogoVar | ||||||
CPVL_chr7_28990235_29151537 | 29080743 | CATG | C | intron_variant | MODIFIER | HG01255.hp1 HG01256.hp1 HG01258.hp2 others(6): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0005 | a0001c0001t0001a0003c0003t0001a0004c0005t0001 | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0001g0176others(6): Show | 9 | 282 | 0.0319 | -3 | c.609 others(20): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 7/12 | chr7 | TogoVar | ||||||
CPVL_chr7_28990235_29151537 | 29103180 | TGGG | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(59): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0018a0001c0001t0001g0019others(59): Show | 62 | 282 | 0.2199 | -3 | c.289 others(20): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 3/12 | chr7 | TogoVar |