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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP76_chr18_12667625_12707723 | 12696502 | AAAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00735.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(8): Show | 14 | 380 | 0.0368 | -3 | c.706 others(18): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 5/11 | chr18 | TogoVar | ||||||
CEP78_chr9_78231075_78284690 | 78238596 | TGTC | T | intron_variant | MODIFIER | HG01255.hp1 HG02257.hp2 HG02559.hp2 others(9): Show |
a0001a0005 | a0001c0004a0005c0012 | a0001c0004t0014a0001c0004t0023a0001c0004t0028others(5): Show | a0001c0004t0014g0023a0001c0004t0014g0030a0001c0004t0014g0115others(8): Show | 12 | 340 | 0.0353 | -3 | c.254 others(20): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CEP78_chr9_78231075_78284690 | 78280315 | CTTT | C | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01891.hp1 HG02486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0033a0001c0001t0089others(1): Show | a0001c0001t0021g0012a0001c0001t0021g0095a0001c0001t0033g0012others(3): Show | 6 | 340 | 0.0177 | -3 | c.*94 others(14): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 626 | chr9 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94331289 | GAAA | G | intron_variant | MODIFIER | HG00673.hp1 HG01978.hp1 HG02015.hp1 others(15): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0202a0001c0001t0001g0212a0001c0001t0001g0225others(15): Show | 18 | 364 | 0.0495 | -3 | c.170 others(20): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 14/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94343470 | CTTT | C | intron_variant | MODIFIER | HG01256.hp1 HG01978.hp1 HG02004.hp1 others(8): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0005c0008t0008 | a0001c0001t0001g0136a0001c0001t0001g0172a0001c0001t0001g0179others(8): Show | 11 | 364 | 0.0302 | -3 | c.134 others(22): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 11/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94348584 | GAGA | G | intron_variant | MODIFIER | HG02056.hp2 NA18962.hp1 NA19072.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0029a0001c0001t0007g0030a0001c0001t0007g0031others(1): Show | 4 | 364 | 0.0110 | -3 | c.134 others(24): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 11/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94397500 | AAAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(197): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(197): Show | 200 | 364 | 0.5495 | -3 | c.549 others(20): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 6/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94397516 | AATG | A | intron_variant | MODIFIER | HG00423.hp2 HG01255.hp2 HG01346.hp2 others(19): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(19): Show | 22 | 364 | 0.0604 | -3 | c.549 others(20): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 6/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94406349 | AAAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG00673.hp2 others(44): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(3): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(44): Show | 47 | 364 | 0.1291 | -3 | c.325 others(20): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 4/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94418041 | AAAG | A | intron_variant | MODIFIER | HG00140.hp2 HG01106.hp2 HG01256.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220a0001c0001t0001g0222a0001c0001t0001g0223 | 3 | 364 | 0.0082 | -3 | c.-10 others(22): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 2/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94460866 | TTTG | T | upstream_gene_variant | MODIFIER | HG02273.hp2 NA18997.hp2 NA19003.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0004a0001c0001t0006g0005a0001c0001t0006g0006others(1): Show | 4 | 364 | 0.0110 | -3 | c.-14 others(14): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 1000 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94461996 | TTTA | T | upstream_gene_variant | MODIFIER | HG02273.hp2 NA18997.hp2 NA19003.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0004a0001c0001t0006g0005a0001c0001t0006g0006others(1): Show | 4 | 364 | 0.0110 | -3 | c.-25 others(14): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 2130 | chr12 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118476983 | TAAG | T | intron_variant | MODIFIER | HG02615.hp2 HG02723.hp2 HG02896.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055a0001c0001t0001g0056a0001c0001t0001g0057others(4): Show | 7 | 302 | 0.0232 | -3 | c.191 others(22): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 10/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118491647 | ATGT | A | intron_variant | MODIFIER | HG01261.hp2 HG01981.hp2 HG02109.hp2 others(11): Show |
a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0041a0004c0004t0006g0042a0004c0004t0006g0043others(11): Show | 14 | 302 | 0.0464 | -3 | c.143 others(18): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 6/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118519468 | GTGT | G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01175.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0195a0002c0002t0002g0233a0002c0002t0002g0240others(1): Show | 4 | 302 | 0.0133 | -3 | c.113 others(22): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118519576 | GTGT | G | intron_variant | MODIFIER | HG01081.hp2 HG02257.hp1 HG04204.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0010a0002c0002t0005 | a0001c0001t0001g0117a0001c0001t0001g0147a0001c0001t0010g0074others(1): Show | 4 | 302 | 0.0133 | -3 | c.113 others(22): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118519578 | GTGT | G | intron_variant | MODIFIER | HG01891.hp2 HG03130.hp2 HG03490.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0012 | a0001c0001t0001a0002c0002t0005a0002c0012t0005 | a0001c0001t0001g0154a0001c0001t0001g0158a0002c0002t0005g0266others(3): Show | 6 | 302 | 0.0199 | -3 | c.113 others(22): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118529608 | CAAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01123.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005 | a0002c0002t0002g0183a0002c0002t0002g0184a0002c0002t0002g0187others(7): Show | 10 | 302 | 0.0331 | -3 | c.102 others(22): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118549145 | GTTA | G | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02257.hp2 others(6): Show |
a0006 | a0006c0006 | a0006c0006t0009a0006c0006t0021 | a0006c0006t0009g0244a0006c0006t0009g0246a0006c0006t0009g0247others(6): Show | 9 | 302 | 0.0298 | -3 | c.102 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118551397 | TAAA | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(167): Show |
a0002a0003a0005others(4): Show | a0002c0002a0002c0012a0003c0003others(5): Show | a0002c0002t0002a0002c0002t0005a0002c0002t0014others(22): Show | a0002c0002t0002g0173a0002c0002t0002g0174a0002c0002t0002g0175others(167): Show | 170 | 302 | 0.5629 | -3 | c.102 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118551480 | TAAG | T | intron_variant | MODIFIER | HG00733.hp2 HG02818.hp1 HG02896.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0025 | a0002c0002t0002g0189a0002c0002t0002g0260a0002c0002t0002g0273others(2): Show | 5 | 302 | 0.0166 | -3 | c.102 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118553215 | TAAA | T | intron_variant | MODIFIER | HG01123.hp2 HG01255.hp1 HG01346.hp1 others(19): Show |
a0002a0003a0006others(1): Show | a0002c0002a0003c0003a0006c0006others(1): Show | a0002c0002t0002a0002c0002t0026a0002c0002t0027others(5): Show | a0002c0002t0002g0177a0002c0002t0002g0194a0002c0002t0002g0198others(19): Show | 22 | 302 | 0.0729 | -3 | c.102 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118569341 | CAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG01361.hp1 HG01515.hp2 others(3): Show |
a0002a0008 | a0002c0002a0008c0013 | a0002c0002t0002a0002c0002t0014a0008c0013t0001 | a0002c0002t0002g0192a0002c0002t0002g0197a0002c0002t0002g0233others(3): Show | 6 | 302 | 0.0199 | -3 | c.233 others(20): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118576886 | CCAT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(73): Show |
a0001a0008a0009others(1): Show | a0001c0001a0008c0013a0009c0008others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0018others(3): Show | a0001c0001t0001g0064a0001c0001t0001g0066a0001c0001t0001g0067others(73): Show | 76 | 302 | 0.2517 | -3 | c.233 others(22): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118596211 | ACAT | A | intron_variant | MODIFIER | HG02451.hp1 HG02886.hp2 HG02965.hp2 others(3): Show |
a0007 | a0007c0007 | a0007c0007t0011a0007c0007t0013 | a0007c0007t0011g0253a0007c0007t0011g0254a0007c0007t0011g0255others(3): Show | 6 | 302 | 0.0199 | -3 | c.233 others(22): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118599712 | AATT | A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01123.hp1 others(4): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0002a0004c0004t0006 | a0002c0002t0002g0183a0002c0002t0002g0184a0002c0002t0002g0197others(4): Show | 7 | 302 | 0.0232 | -3 | c.232 others(22): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600294 | CCTG | C | intron_variant | MODIFIER | HG01978.hp1 HG02486.hp2 HG02615.hp2 others(2): Show |
a0001a0005a0007 | a0001c0001a0005c0005a0007c0007 | a0001c0001t0001a0005c0005t0008a0007c0007t0011others(1): Show | a0001c0001t0001g0061a0001c0001t0001g0120a0005c0005t0008g0295others(2): Show | 5 | 302 | 0.0166 | -3 | c.232 others(22): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600301 | GTGT | G | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 NA18969.hp1 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0021a0003c0003t0003g0026a0003c0003t0003g0037 | 3 | 302 | 0.0099 | -3 | c.232 others(22): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118634659 | CAGA | C | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00639.hp1 others(49): Show |
a0003a0005a0010others(1): Show | a0003c0003a0005c0005a0010c0010others(1): Show | a0003c0003t0003a0003c0003t0016a0005c0005t0008others(3): Show | a0003c0003t0003g0001a0003c0003t0003g0002a0003c0003t0003g0003others(49): Show | 52 | 302 | 0.1722 | -3 | c.74- others(18): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26250929 | TTTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(109): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0012others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0007others(4): Show | a0001c0001t0001g0169a0001c0001t0001g0177a0001c0001t0001g0178others(106): Show | 112 | 342 | 0.3275 | -3 | c.209 others(20): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP85_chr1_26229200_26283808 | 26276800 | CCTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01516.hp2 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0302a0003c0003t0004g0310a0003c0003t0004g0311others(2): Show | 5 | 342 | 0.0146 | -3 | c.212 others(18): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP85_chr1_26229200_26283808 | 26283764 | TAGG | T | downstream_gene_variant | MODIFIER | NA18968.hp1 NA18991.hp1 NA19057.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006a0001c0001t0002g0044a0001c0001t0002g0052 | 4 | 342 | 0.0117 | -3 | c.*64 others(14): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 4957 | chr1 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32880639 | TAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00738.hp2 others(26): Show |
a0000a0003 | a0000c0005a0000c0007a0000c0012others(1): Show | a0000c0005t0005a0000c0005t0019a0000c0005t0020others(6): Show | a0000c0005t0005g0097a0000c0005t0005g0098a0000c0005t0005g0099others(26): Show | 29 | 386 | 0.0751 | -3 | c.213 others(22): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 18/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32881307 | GTAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(72): Show |
a0000a0001a0002others(3): Show | a0000c0005a0000c0007a0000c0012others(7): Show | a0000c0005t0005a0000c0005t0019a0000c0005t0020others(16): Show | a0000c0005t0005g0097a0000c0005t0005g0098a0000c0005t0005g0099others(72): Show | 75 | 386 | 0.1943 | -3 | c.213 others(20): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 18/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32913303 | ATAT | A | intron_variant | MODIFIER | HG03491.hp2 NA18945.hp2 NA18949.hp2 others(1): Show |
a0000a0003 | a0000c0007a0003c0013 | a0000c0007t0004a0003c0013t0003 | a0000c0007t0004g0078a0000c0007t0004g0275a0000c0007t0004g0293others(1): Show | 4 | 386 | 0.0104 | -3 | c.156 others(22): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32913305 | ATTT | A | intron_variant | MODIFIER | HG02132.hp2 NA18944.hp2 NA18977.hp2 others(3): Show |
a0000 | a0000c0007 | a0000c0007t0004 | a0000c0007t0004g0283a0000c0007t0004g0285a0000c0007t0004g0287others(3): Show | 6 | 386 | 0.0155 | -3 | c.156 others(22): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32913310 | TTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG01074.hp2 HG01123.hp1 others(8): Show |
a0000 | a0000c0007 | a0000c0007t0004a0000c0007t0033 | a0000c0007t0004g0277a0000c0007t0004g0278a0000c0007t0004g0279others(8): Show | 11 | 386 | 0.0285 | -3 | c.156 others(22): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32915918 | GAAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00738.hp2 others(31): Show |
a0000a0001a0003others(2): Show | a0000c0005a0001c0002a0003c0010others(2): Show | a0000c0005t0005a0000c0005t0019a0000c0005t0020others(9): Show | a0000c0005t0005g0097a0000c0005t0005g0098a0000c0005t0005g0099others(31): Show | 34 | 386 | 0.0881 | -3 | c.138 others(20): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 13/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32938002 | ATTT | A | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00621.hp2 others(60): Show |
a0000a0001 | a0000c0012a0001c0002a0001c0016 | a0000c0012t0004a0000c0012t0021a0001c0002t0001others(4): Show | a0000c0012t0004g0065a0000c0012t0021g0015a0001c0002t0001g0001others(57): Show | 63 | 386 | 0.1632 | -3 | c.625 others(18): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 6/18 | chr19 | TogoVar | ||||||
CEP95_chr17_64501977_64542946 | 64520248 | CATT | C | intron_variant | MODIFIER | HG00639.hp1 HG01891.hp1 HG02145.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031a0001c0001t0002g0142a0001c0001t0002g0143others(7): Show | 11 | 248 | 0.0444 | -3 | c.589 others(18): Show |
CEP95 | ENSG00000258890.8 | transcript | ENST00000556440.7 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CEP95_chr17_64501977_64542946 | 64539416 | TATA | T | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02886.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029a0001c0001t0002g0128 | 3 | 248 | 0.0121 | -3 | c.*16 others(14): Show |
CEP95 | ENSG00000258890.8 | transcript | ENST00000556440.7 | protein_coding | 1471 | chr17 | TogoVar | ||||||
CEP97_chr3_101719614_101775562 | 101754042 | CTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01975.hp1 others(11): Show |
a0001a0009 | a0001c0001a0009c0011 | a0001c0001t0002a0001c0001t0010a0001c0001t0011others(1): Show | a0001c0001t0002g0019a0001c0001t0002g0145a0001c0001t0002g0149others(10): Show | 14 | 352 | 0.0398 | -3 | c.729 others(20): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEPT1_chr1_111135223_111190104 | 111163770 | ATGG | A | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG01167.hp2 others(47): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0011others(34): Show | 50 | 410 | 0.1220 | -3 | c.629 others(20): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
CEPT1_chr1_111135223_111190104 | 111181353 | AAAG | A | intron_variant | MODIFIER | HG01192.hp1 HG03139.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176a0001c0001t0001g0191a0001c0001t0001g0192others(1): Show | 4 | 410 | 0.0098 | -3 | c.715 others(18): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEPT1_chr1_111135223_111190104 | 111187278 | TATA | T | downstream_gene_variant | MODIFIER | HG01099.hp1 HG02647.hp2 HG03471.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0233a0001c0001t0001g0234a0002c0004t0001g0239 | 3 | 410 | 0.0073 | -3 | c.*29 others(14): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 2175 | chr1 | TogoVar | ||||||
CERCAM_chr9_128415857_128442347 | 128429701 | ACTC | A | intron_variant | MODIFIER | HG02145.hp2 HG02809.hp1 HG02970.hp2 others(3): Show |
a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0009a0002c0005t0002g0209 | 6 | 400 | 0.0150 | -3 | c.107 others(20): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CERCAM_chr9_128415857_128442347 | 128440266 | CAAA | C | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01358.hp2 HG02451.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0011a0001c0024others(2): Show | a0001c0002t0002a0001c0011t0002a0001c0024t0002others(2): Show | a0001c0002t0002g0003a0001c0002t0002g0093a0001c0002t0002g0094others(4): Show | 7 | 400 | 0.0175 | -3 | c.*34 others(14): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 2920 | chr9 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181542909 | TGAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(48): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0012a0001c0001t0017others(6): Show | a0001c0001t0003g0149a0001c0001t0003g0163a0001c0001t0003g0172others(45): Show | 51 | 298 | 0.1711 | -3 | c.136 others(22): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 11/12 | chr2 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181552873 | ATAT | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(146): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0010others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(27): Show | a0001c0001t0001g0150a0001c0001t0001g0158a0001c0001t0001g0159others(144): Show | 149 | 298 | 0.5000 | -3 | c.821 others(20): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 5/12 | chr2 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181602571 | GGGA | G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(64): Show |
a0001a0004a0005others(4): Show | a0001c0001a0001c0002a0001c0010others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(11): Show | a0001c0001t0001g0150a0001c0001t0001g0158a0001c0001t0001g0159others(64): Show | 67 | 298 | 0.2248 | -3 | c.481 others(20): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 2/12 | chr2 | TogoVar |