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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP85L_chr6_118455772_118656591 | 118496356 | T | TTTTTA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0007a0002c0002t0002others(3): Show | a0001c0001t0001g0073a0001c0001t0001g0109a0001c0001t0001g0113others(29): Show | 32 | 302 | 0.1060 | 5 | c.125 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 5/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118505409 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00735.hp2 HG01123.hp1 others(21): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0004 | a0002c0002t0002a0002c0002t0028a0003c0003t0002others(1): Show | a0002c0002t0002g0173a0002c0002t0002g0179a0002c0002t0002g0184others(21): Show | 24 | 302 | 0.0795 | 5 | c.125 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 5/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118519474 | G | GTGTGT | intron_variant | MODIFIER | HG02630.hp2 NA19030.hp2 NA20905.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0005a0002c0002t0014 | a0001c0001t0007g0103a0002c0002t0005g0271a0002c0002t0014g0275 | 3 | 302 | 0.0099 | 5 | c.113 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118519581 | T | TGTGGC | intron_variant | MODIFIER | HG01993.hp1 HG03927.hp2 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118a0001c0001t0001g0151a0001c0001t0001g0169 | 3 | 302 | 0.0099 | 5 | c.113 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GTGTGT | intron_variant | MODIFIER | HG02132.hp2 HG02886.hp1 HG03486.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0023others(1): Show | a0001c0001t0001g0106a0001c0001t0004g0087a0001c0001t0004g0089others(2): Show | 5 | 302 | 0.0166 | 5 | c.232 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118613757 | C | CAAAAA | intron_variant | MODIFIER | HG01515.hp1 HG02257.hp1 HG02451.hp1 others(9): Show |
a0002a0003a0007 | a0002c0002a0003c0003a0007c0007 | a0002c0002t0002a0002c0002t0005a0003c0003t0003others(3): Show | a0002c0002t0002g0218a0002c0002t0002g0273a0002c0002t0005g0270others(9): Show | 12 | 302 | 0.0397 | 5 | c.232 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118637703 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp2 others(65): Show |
a0002a0003a0005 | a0002c0002a0003c0003a0005c0005 | a0002c0002t0002a0002c0002t0026a0002c0002t0027others(6): Show | a0002c0002t0002g0173a0002c0002t0002g0174a0002c0002t0002g0175others(65): Show | 68 | 302 | 0.2252 | 5 | c.74- others(20): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26248722 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(19): Show |
a0003 | a0003c0003a0003c0005a0003c0007others(1): Show | a0003c0003t0004a0003c0003t0006a0003c0005t0004others(2): Show | a0003c0003t0004g0300a0003c0003t0004g0302a0003c0003t0004g0303others(19): Show | 22 | 342 | 0.0643 | 5 | c.208 others(22): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP85_chr1_26229200_26283808 | 26272617 | A | ATTTTT | intron_variant | MODIFIER | HG01358.hp2 HG01952.hp1 HG03195.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0114a0001c0001t0003g0119a0001c0001t0003g0126others(3): Show | 6 | 342 | 0.0175 | 5 | c.179 others(22): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP85_chr1_26229200_26283808 | 26280499 | G | GCCCTC | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02622.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0012a0003c0005t0004 | a0001c0001t0001g0284a0001c0001t0001g0285a0001c0001t0012g0168others(2): Show | 5 | 342 | 0.0146 | 5 | c.*32 others(16): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 1692 | chr1 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32899131 | A | ATTTCC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(91): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0001a0002c0025others(4): Show | a0001c0002t0001a0002c0001t0001a0002c0001t0002others(11): Show | a0001c0002t0001g0029a0002c0001t0001g0332a0002c0001t0002g0004others(89): Show | 94 | 386 | 0.2435 | 5 | c.187 others(22): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 16/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32900246 | A | ATTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00738.hp2 others(24): Show |
a0000a0003 | a0000c0005a0003c0010 | a0000c0005t0005a0000c0005t0019a0000c0005t0020others(4): Show | a0000c0005t0005g0097a0000c0005t0005g0098a0000c0005t0005g0099others(24): Show | 27 | 386 | 0.0700 | 5 | c.173 others(22): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 15/18 | chr19 | TogoVar | ||||||
CEP97_chr3_101719614_101775562 | 101730228 | G | GTTGTT | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00741.hp1 others(35): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0029a0001c0001t0001g0057others(33): Show | 38 | 352 | 0.1080 | 5 | c.447 others(22): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP97_chr3_101719614_101775562 | 101730231 | T | TTTTTG | intron_variant | MODIFIER | HG00621.hp2 HG00733.hp1 HG00735.hp1 others(16): Show |
a0001a0003a0009 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0032others(4): Show | a0001c0001t0001g0024a0001c0001t0001g0283a0001c0001t0001g0285others(16): Show | 19 | 352 | 0.0540 | 5 | c.447 others(22): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP97_chr3_101719614_101775562 | 101760022 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00642.hp1 others(92): Show |
a0001a0003a0012others(1): Show | a0001c0001a0001c0015a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(9): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(86): Show | 95 | 352 | 0.2699 | 5 | c.181 others(24): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEPT1_chr1_111135223_111190104 | 111154187 | G | GTATTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(29): Show | 40 | 410 | 0.0976 | 5 | c.340 others(22): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CERCAM_chr9_128415857_128442347 | 128416841 | C | CTTTGT | upstream_gene_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01256.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(4): Show | 12 | 400 | 0.0300 | 5 | c.-40 others(16): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 4015 | chr9 | TogoVar | ||||||
CERCAM_chr9_128415857_128442347 | 128418582 | T | TTTTTG | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02809.hp1 HG02970.hp2 others(3): Show |
a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0009a0002c0005t0002g0209 | 6 | 400 | 0.0150 | 5 | c.-22 others(16): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 2274 | chr9 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181595222 | T | TTTAAG | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(81): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0010others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(16): Show | a0001c0001t0001g0150a0001c0001t0001g0158a0001c0001t0001g0159others(80): Show | 84 | 298 | 0.2819 | 5 | c.481 others(22): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181599535 | T | TCAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG01884.hp2 others(18): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0021a0001c0002t0003others(5): Show | a0001c0001t0001g0210a0001c0001t0021g0183a0001c0002t0003g0140others(17): Show | 21 | 298 | 0.0705 | 5 | c.481 others(22): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181616206 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00673.hp2 others(33): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0171a0001c0001t0001g0209a0001c0001t0001g0226others(33): Show | 36 | 298 | 0.1208 | 5 | c.239 others(24): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46719198 | C | CTTTTA | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00609.hp2 others(32): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0014a0001c0001t0030a0001c0001t0056others(21): Show | a0001c0001t0014g0291a0001c0001t0014g0292a0001c0001t0014g0294others(32): Show | 35 | 340 | 0.1029 | 5 | c.379 others(20): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 3/12 | chr22 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46723704 | T | TTCTTC | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG02083.hp2 |
a0001 | a0001c0003a0001c0035 | a0001c0003t0002a0001c0003t0012a0001c0035t0009 | a0001c0003t0002g0172a0001c0003t0012g0247a0001c0035t0009g0323 | 3 | 340 | 0.0088 | 5 | c.143 others(22): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 1/12 | chr22 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100413510 | G | GACTAT | intron_variant | MODIFIER | HG00323.hp1 HG00673.hp1 HG00733.hp1 others(54): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(13): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0033others(54): Show | 57 | 362 | 0.1575 | 5 | c.100 others(26): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100414819 | T | TAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(105): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0018others(9): Show | a0001c0001t0002g0023a0001c0001t0002g0027a0001c0001t0002g0029others(105): Show | 108 | 362 | 0.2983 | 5 | c.100 others(26): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100414823 | A | AAAAAC | intron_variant | MODIFIER | HG00408.hp1 NA18942.hp2 NA18952.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015a0001c0001t0002g0016a0001c0001t0002g0017others(6): Show | 9 | 362 | 0.0249 | 5 | c.100 others(26): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100454387 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00738.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004 | a0001c0001t0001g0117a0001c0001t0001g0123a0001c0001t0001g0125others(17): Show | 20 | 362 | 0.0553 | 5 | c.999 others(22): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100506470 | C | CCCCCG | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00735.hp2 others(23): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0021others(9): Show | a0001c0001t0001g0033a0001c0001t0008g0113a0001c0001t0008g0308others(23): Show | 26 | 362 | 0.0718 | 5 | c.-1- others(20): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100527888 | T | TTTCTC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(265): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(265): Show | 268 | 362 | 0.7403 | 5 | c.-92 others(20): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 1/11 | chr15 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8221872 | G | GTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01981.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0005others(5): Show | a0001c0001t0001g0117a0001c0001t0003g0050a0001c0001t0003g0183others(9): Show | 12 | 418 | 0.0287 | 5 | c.-2+ others(22): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CERS4_chr19_8204370_8267421 | 8249587 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00558.hp1 others(70): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0204a0001c0001t0002g0003a0001c0001t0002g0135others(70): Show | 73 | 418 | 0.1746 | 5 | c.-1- others(20): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CERS4_chr19_8204370_8267421 | 8254322 | C | CAAAAA | intron_variant | MODIFIER | HG00733.hp2 HG02074.hp1 HG02109.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0002g0139a0001c0001t0002g0142a0001c0001t0002g0144others(11): Show | 14 | 418 | 0.0335 | 5 | c.174 others(20): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CERS4_chr19_8204370_8267421 | 8260950 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0006a0001c0002t0005a0001c0002t0006others(2): Show | a0001c0001t0006g0220a0001c0001t0006g0226a0001c0001t0006g0369others(21): Show | 24 | 418 | 0.0574 | 5 | c.849 others(20): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CERS5_chr12_50124289_50172369 | 50134071 | G | GAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0072a0001c0001t0001g0085others(40): Show | 43 | 320 | 0.1344 | 5 | c.102 others(22): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 9/9 | chr12 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50140284 | A | ATTTTT | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00738.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0017a0001c0001t0001g0102a0001c0001t0001g0104others(23): Show | 26 | 320 | 0.0813 | 5 | c.493 others(22): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 4/9 | chr12 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50153269 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(26): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0012 | a0002c0003t0003g0021a0002c0003t0003g0022a0002c0003t0003g0023others(26): Show | 29 | 320 | 0.0906 | 5 | c.198 others(22): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50155736 | C | CAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp2 HG01255.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0004t0001a0002c0003t0003 | a0001c0001t0001g0079a0001c0004t0001g0004a0001c0004t0001g0005others(6): Show | 9 | 320 | 0.0281 | 5 | c.197 others(24): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168517522 | T | TAAATA | intron_variant | MODIFIER | HG03041.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0038 | a0001c0001t0006g0116a0001c0001t0038g0115 | 2 | 176 | 0.0114 | 5 | c.171 others(24): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168593526 | G | GTGTTT | intron_variant | MODIFIER | HG02145.hp1 HG02165.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0062a0001c0001t0003g0006a0001c0001t0003g0007others(4): Show | 7 | 176 | 0.0398 | 5 | c.407 others(24): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168600211 | T | TCTCTC | intron_variant | MODIFIER | HG02280.hp1 HG02622.hp2 HG02647.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0004g0014a0001c0001t0007g0013a0001c0001t0008g0040others(5): Show | 8 | 176 | 0.0455 | 5 | c.408 others(24): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168623702 | C | CAGTTT | intron_variant | MODIFIER | HG02071.hp2 NA18945.hp1 NA18949.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0035others(1): Show | a0001c0001t0001g0147a0001c0001t0001g0154a0001c0001t0002g0001others(7): Show | 10 | 176 | 0.0568 | 5 | c.408 others(22): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168645116 | A | ATATAT | intron_variant | MODIFIER | HG01496.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0067a0001c0001t0006g0129 | 2 | 176 | 0.0114 | 5 | c.465 others(24): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168665947 | G | GACTGT | intron_variant | MODIFIER | HG02071.hp2 HG02523.hp2 HG02602.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0035others(1): Show | a0001c0001t0001g0153a0001c0001t0001g0154a0001c0001t0002g0036others(4): Show | 7 | 176 | 0.0398 | 5 | c.466 others(24): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168700108 | G | GGTCTT | intron_variant | MODIFIER | HG00738.hp1 HG02071.hp1 HG02132.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0143a0001c0001t0001g0147a0001c0001t0002g0057others(8): Show | 11 | 176 | 0.0625 | 5 | c.609 others(22): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 6/9 | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168728330 | T | TTGGAA | intron_variant | MODIFIER | HG00558.hp2 HG01255.hp2 HG02055.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0089a0001c0001t0001g0094a0001c0001t0001g0098others(20): Show | 23 | 176 | 0.1307 | 5 | c.845 others(24): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERT1_chr5_75372775_75516629 | 75393602 | T | TAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01071.hp1 others(25): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0002t0019a0001c0002t0020others(1): Show | a0001c0002t0001g0047a0001c0002t0001g0088a0001c0002t0001g0089others(25): Show | 28 | 336 | 0.0833 | 5 | c.118 others(24): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 11/16 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75404291 | T | TAAAAA | intron_variant | MODIFIER | HG02027.hp1 HG02132.hp1 HG02135.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0009 | a0001c0002t0001g0082a0001c0002t0001g0083a0001c0002t0001g0084others(5): Show | 8 | 336 | 0.0238 | 5 | c.931 others(22): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 8/16 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75503870 | T | TAAATG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(228): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0036a0001c0001t0001g0310a0001c0001t0001g0311others(228): Show | 231 | 336 | 0.6875 | 5 | c.231 others(22): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 2/16 | chr5 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55809093 | C | CAAAAA | intron_variant | MODIFIER | NA18951.hp1 NA18953.hp2 NA19011.hp2 others(1): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0001a0002c0002t0002a0006c0007t0001 | a0001c0001t0001g0018a0001c0001t0001g0023a0002c0002t0002g0071others(1): Show | 4 | 87 | 0.0460 | 5 | c.131 others(24): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55835623 | A | AAAGAG | upstream_gene_variant | MODIFIER | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(3): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0002a0002c0006t0002 | a0002c0002t0002g0064a0002c0002t0002g0065a0002c0002t0002g0066others(3): Show | 6 | 87 | 0.0690 | 5 | c.-25 others(16): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2528 | chr16 | TogoVar |