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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CELSR1_chr22_46356174_46542620 | 46458110 | AGAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00735.hp2 others(15): Show |
a0001a0007a0013others(6): Show | a0001c0001a0001c0002a0001c0034others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0034t0001others(9): Show | a0001c0001t0001g0029a0001c0001t0001g0049a0001c0001t0001g0072others(15): Show | 18 | 104 | 0.1731 | -3 | c.418 others(22): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46462645 | CAAA | C | intron_variant | MODIFIER | HG00621.hp1 HG01081.hp1 HG01258.hp1 others(26): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0006a0001c0040others(21): Show | a0001c0001t0001a0001c0001t0011a0001c0006t0001others(22): Show | a0001c0001t0001g0059a0001c0001t0001g0063a0001c0001t0001g0074others(26): Show | 29 | 104 | 0.2789 | -3 | c.418 others(22): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46485929 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG01081.hp1 others(8): Show |
a0001a0003a0006 | a0001c0001a0001c0025a0001c0031others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0025t0001others(3): Show | a0001c0001t0001g0049a0001c0001t0001g0059a0001c0001t0001g0063others(8): Show | 11 | 104 | 0.1058 | -3 | c.354 others(24): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46506173 | CAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG02055.hp1 others(13): Show |
a0001a0002a0003others(13): Show | a0001c0029a0002c0016a0003c0015others(13): Show | a0001c0029t0001a0002c0016t0003a0003c0015t0001others(13): Show | a0001c0029t0001g0038a0002c0016t0003g0025a0003c0015t0001g0022others(13): Show | 16 | 104 | 0.1539 | -3 | c.354 others(24): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR2_chr1_109244539_109280751 | 109277176 | AAAG | A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG02109.hp1 HG02559.hp1 others(5): Show |
a0001a0002 | a0001c0003a0002c0004a0002c0006others(1): Show | a0001c0003t0007a0001c0003t0039a0002c0004t0023others(2): Show | a0001c0003t0007g0029a0001c0003t0007g0058a0001c0003t0039g0029others(4): Show | 8 | 356 | 0.0225 | -3 | c.*31 others(14): Show |
CELSR2 | ENSG00000143126.8 | transcript | ENST00000271332.4 | protein_coding | 1426 | chr1 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71699034 | TAAA | T | intron_variant | MODIFIER | HG01081.hp1 HG02717.hp2 HG02735.hp2 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0013a0002c0008others(2): Show | a0001c0001t0008a0001c0001t0020a0001c0013t0020others(3): Show | a0001c0001t0008g0061a0001c0001t0020g0062a0001c0001t0020g0312others(4): Show | 7 | 320 | 0.0219 | -3 | c.337 others(20): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 19/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71700516 | GAGA | G | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(140): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0009a0001c0013others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(60): Show | a0001c0001t0001g0154a0001c0001t0001g0159a0001c0001t0001g0161others(140): Show | 143 | 320 | 0.4469 | -3 | c.337 others(20): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 19/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71700950 | CCTT | C | intron_variant | MODIFIER | HG01081.hp1 HG02717.hp2 HG02965.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0008 | a0001c0001t0008a0001c0001t0020a0001c0013t0020others(1): Show | a0001c0001t0008g0061a0001c0001t0020g0062a0001c0001t0020g0312others(2): Show | 5 | 320 | 0.0156 | -3 | c.319 others(20): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 18/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71719842 | CAAA | C | intron_variant | MODIFIER | HG01070.hp1 HG01167.hp1 HG01169.hp2 others(20): Show |
a0005a0006a0008 | a0005c0004a0006c0033a0008c0011 | a0005c0004t0001a0005c0004t0007a0005c0004t0011others(8): Show | a0005c0004t0001g0233a0005c0004t0007g0131a0005c0004t0011g0005others(20): Show | 23 | 320 | 0.0719 | -3 | c.226 others(22): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 12/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71720255 | TGAA | T | intron_variant | MODIFIER | HG01070.hp1 HG01167.hp1 HG01169.hp2 others(20): Show |
a0005a0006a0008 | a0005c0004a0006c0033a0008c0011 | a0005c0004t0001a0005c0004t0007a0005c0004t0011others(8): Show | a0005c0004t0001g0233a0005c0004t0007g0131a0005c0004t0011g0005others(20): Show | 23 | 320 | 0.0719 | -3 | c.226 others(22): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 12/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71732686 | ATTT | A | intron_variant | MODIFIER | HG01099.hp1 HG01123.hp2 HG01175.hp2 others(31): Show |
a0001a0002a0005others(4): Show | a0001c0013a0002c0002a0002c0007others(7): Show | a0001c0013t0020a0002c0002t0001a0002c0002t0003others(20): Show | a0001c0013t0020g0267a0002c0002t0001g0039a0002c0002t0001g0041others(31): Show | 34 | 320 | 0.1063 | -3 | c.139 others(20): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 6/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71739361 | CAAA | C | intron_variant | MODIFIER | HG01981.hp2 HG03710.hp2 HG04115.hp2 others(7): Show |
a0001a0005a0008 | a0001c0001a0005c0004a0008c0011 | a0001c0001t0002a0005c0004t0011a0005c0004t0022others(4): Show | a0001c0001t0002g0172a0001c0001t0002g0315a0005c0004t0011g0017others(7): Show | 10 | 320 | 0.0313 | -3 | c.120 others(20): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 5/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71746596 | CAAA | C | intron_variant | MODIFIER | HG01070.hp1 HG01167.hp1 HG01169.hp2 others(16): Show |
a0005a0008 | a0005c0004a0008c0011 | a0005c0004t0001a0005c0004t0011a0005c0004t0022others(6): Show | a0005c0004t0001g0233a0005c0004t0011g0005a0005c0004t0011g0006others(16): Show | 19 | 320 | 0.0594 | -3 | c.332 others(18): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 2/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71762503 | CAAA | C | intron_variant | MODIFIER | HG01070.hp1 HG01167.hp1 HG01169.hp2 others(21): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0004others(2): Show | a0001c0001t0003a0002c0002t0001a0005c0004t0007others(9): Show | a0001c0001t0003g0234a0002c0002t0001g0066a0002c0002t0001g0067others(21): Show | 24 | 320 | 0.0750 | -3 | c.-13 others(20): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 1/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71764822 | TAAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp1 others(105): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0015a0001c0026others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0148others(105): Show | 108 | 320 | 0.3375 | -3 | c.-13 others(20): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 1/23 | chr9 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80817602 | AAAT | A | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG02055.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0185a0001c0001t0001g0234others(11): Show | 14 | 254 | 0.0551 | -3 | c.-17 others(24): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CEMIP_chr15_80774370_80956771 | 80836073 | ATTT | A | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG01884.hp2 others(19): Show |
a0001a0009a0011 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0022others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0026others(19): Show | 22 | 254 | 0.0866 | -3 | c.-17 others(24): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CEMIP_chr15_80774370_80956771 | 80848953 | ATTT | A | intron_variant | MODIFIER | HG01074.hp1 HG02155.hp2 HG02738.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0011a0001c0001t0001g0033a0001c0001t0001g0035others(3): Show | 6 | 254 | 0.0236 | -3 | c.-17 others(24): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CEMIP_chr15_80774370_80956771 | 80865716 | ATTC | A | intron_variant | MODIFIER | HG01255.hp1 HG02572.hp2 HG02615.hp1 others(5): Show |
a0001a0010 | a0001c0001a0001c0005a0001c0014others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0022others(4): Show | a0001c0001t0001g0201a0001c0001t0001g0240a0001c0001t0005g0138others(5): Show | 8 | 254 | 0.0315 | -3 | c.-17 others(22): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CEMIP_chr15_80774370_80956771 | 80875021 | ATTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(61): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0011others(61): Show | 64 | 254 | 0.2520 | -3 | c.94+ others(18): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CEMIP_chr15_80774370_80956771 | 80927159 | AAGT | A | intron_variant | MODIFIER | HG02976.hp1 HG06807.hp1 NA18522.hp1 |
a0001 | a0001c0013a0001c0019a0001c0028 | a0001c0013t0001a0001c0019t0021a0001c0028t0017 | a0001c0013t0001g0232a0001c0019t0021g0094a0001c0028t0017g0134 | 3 | 254 | 0.0118 | -3 | c.242 others(22): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 19/29 | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80933618 | CAGT | C | intron_variant | MODIFIER | HG01243.hp2 HG02572.hp1 HG03195.hp2 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0136a0001c0010t0001g0165a0001c0010t0001g0247 | 3 | 254 | 0.0118 | -3 | c.300 others(20): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 23/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CEMIP_chr15_80774370_80956771 | 80948905 | TGAA | T | conservative_inframe_deletion | MODERATE | HG01168.hp1 HG01192.hp1 HG03239.hp2 |
a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0014a0003c0009t0001g0099a0003c0009t0001g0101 | 3 | 254 | 0.0118 | -3 | c.407 others(12): Show |
p.Lys others(7): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 30/30 | 4498/7353 | 4078/4086 | 1360/1361 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
CEMP1_chr16_2525035_2536408 | 2533430 | ATTT | A | upstream_gene_variant | MODIFIER | HG01168.hp1 HG01516.hp1 HG01978.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0000a0002c0002t0003g0000 | 9 | 348 | 0.0259 | -3 | c.-23 others(14): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 2023 | chr16 | TogoVar | ||||||
CENATAC_chr11_118993138_119020793 | 119001782 | TGTG | T | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG03139.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032a0001c0002t0001g0173 | 3 | 318 | 0.0094 | -3 | c.383 others(20): Show |
CENATAC | ENSG00000186166.9 | transcript | ENST00000334418.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CENATAC_chr11_118993138_119020793 | 119002224 | CAAA | C | intron_variant | MODIFIER | HG02486.hp1 HG02572.hp1 HG02895.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0157a0001c0003t0002g0158a0001c0003t0002g0159others(4): Show | 7 | 318 | 0.0220 | -3 | c.383 others(20): Show |
CENATAC | ENSG00000186166.9 | transcript | ENST00000334418.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CENATAC_chr11_118993138_119020793 | 119013462 | ATTT | A | intron_variant | MODIFIER | HG01891.hp1 HG02602.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0002 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0057others(3): Show | 6 | 318 | 0.0189 | -3 | c.715 others(18): Show |
CENATAC | ENSG00000186166.9 | transcript | ENST00000334418.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CENATAC_chr11_118993138_119020793 | 119020426 | ATTC | A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00733.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0016a0001c0002t0001g0010a0001c0002t0001g0015others(18): Show | 27 | 318 | 0.0849 | -3 | c.*48 others(14): Show |
CENATAC | ENSG00000186166.9 | transcript | ENST00000334418.6 | protein_coding | 4634 | chr11 | TogoVar | ||||||
CEND1_chr11_782115_795090 | 787319 | TGAG | T | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG01943.hp2 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0010 | 6 | 414 | 0.0145 | -3 | c.*80 others(12): Show |
CEND1 | ENSG00000184524.6 | transcript | ENST00000330106.5 | protein_coding | 2/2 | 805 | chr11 | TogoVar | |||||
CENPA_chr2_26781056_26799589 | 26782423 | CAAA | C | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02486.hp1 HG02559.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0032others(1): Show | 13 | 382 | 0.0340 | -3 | c.-37 others(14): Show |
CENPA | ENSG00000115163.15 | transcript | ENST00000335756.9 | protein_coding | 3632 | chr2 | TogoVar | ||||||
CENPA_chr2_26781056_26799589 | 26797453 | TAGG | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(80): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0018others(10): Show | 83 | 382 | 0.2173 | -3 | c.*36 others(14): Show |
CENPA | ENSG00000115163.15 | transcript | ENST00000335756.9 | protein_coding | 2865 | chr2 | TogoVar | ||||||
CENPC_chr4_67463762_67550503 | 67489304 | AAAG | A | intron_variant | MODIFIER | HG02615.hp2 HG02647.hp2 HG02896.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0026 | a0002c0002t0002g0061a0002c0002t0002g0066a0002c0002t0002g0067others(1): Show | 4 | 338 | 0.0118 | -3 | c.267 others(20): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 17/18 | chr4 | TogoVar | ||||||
CENPC_chr4_67463762_67550503 | 67509718 | TTAG | T | intron_variant | MODIFIER | HG03017.hp2 HG03209.hp2 HG03540.hp2 others(4): Show |
a0002a0012 | a0002c0002a0012c0013 | a0002c0002t0007a0002c0002t0023a0012c0013t0007 | a0002c0002t0007g0016a0002c0002t0007g0069a0002c0002t0007g0071others(4): Show | 7 | 338 | 0.0207 | -3 | c.161 others(20): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 9/18 | chr4 | TogoVar | ||||||
CENPC_chr4_67463762_67550503 | 67521277 | CAAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01070.hp2 others(32): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0001c0001t0019a0003c0003t0004 | a0001c0001t0004g0001a0001c0001t0004g0004a0001c0001t0004g0088others(29): Show | 35 | 338 | 0.1036 | -3 | c.332 others(20): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 5/18 | chr4 | TogoVar | ||||||
CENPC_chr4_67463762_67550503 | 67541941 | TACA | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(70): Show |
a0002a0005a0010others(1): Show | a0002c0002a0005c0005a0010c0008others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(7): Show | a0002c0002t0002g0002a0002c0002t0002g0003a0002c0002t0002g0021others(68): Show | 73 | 338 | 0.2160 | -3 | c.66- others(16): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 2/18 | chr4 | TogoVar | ||||||
CENPC_chr4_67463762_67550503 | 67550456 | CAAA | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(63): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0012a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0014a0001c0001t0001g0258a0001c0001t0001g0259others(63): Show | 66 | 338 | 0.1953 | -3 | c.-51 others(14): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 4954 | chr4 | TogoVar | ||||||
CENPE_chr4_103100811_103203343 | 103101547 | GCTT | G | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02818.hp2 HG03209.hp1 |
a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0010a0009c0011t0001g0016a0009c0011t0001g0017 | 3 | 320 | 0.0094 | -3 | c.*46 others(14): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 4263 | chr4 | TogoVar | ||||||
CENPE_chr4_103100811_103203343 | 103135572 | CTAG | C | intron_variant | MODIFIER | HG02109.hp1 HG02818.hp2 HG03209.hp1 |
a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0010a0009c0011t0001g0016a0009c0011t0001g0017 | 3 | 320 | 0.0094 | -3 | c.652 others(20): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 40/48 | chr4 | TogoVar | ||||||
CENPE_chr4_103100811_103203343 | 103140688 | CTTA | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(156): Show |
a0001a0002a0003others(12): Show | a0001c0004a0001c0013a0001c0015others(16): Show | a0001c0004t0001a0001c0013t0001a0001c0015t0001others(16): Show | a0001c0004t0001g0069a0001c0004t0001g0070a0001c0004t0001g0071others(149): Show | 159 | 320 | 0.4969 | -3 | c.575 others(20): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 36/48 | chr4 | TogoVar | ||||||
CENPE_chr4_103100811_103203343 | 103157059 | CAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(116): Show |
a0001a0002a0003others(9): Show | a0001c0007a0002c0002a0003c0003others(10): Show | a0001c0007t0001a0002c0002t0001a0003c0003t0001others(10): Show | a0001c0007t0001g0091a0001c0007t0001g0094a0001c0007t0001g0095others(111): Show | 119 | 320 | 0.3719 | -3 | c.303 others(22): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 24/48 | chr4 | TogoVar | ||||||
CENPE_chr4_103100811_103203343 | 103190105 | AAGG | A | intron_variant | MODIFIER | NA18952.hp1 NA18968.hp2 NA18981.hp1 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0001a0001c0020t0001 | a0001c0001t0001g0268a0001c0001t0001g0269a0001c0020t0001g0273 | 3 | 320 | 0.0094 | -3 | c.693 others(20): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 8/48 | chr4 | TogoVar | ||||||
CENPE_chr4_103100811_103203343 | 103199407 | TTTA | T | upstream_gene_variant | MODIFIER | HG01255.hp1 HG02622.hp2 HG02886.hp2 others(3): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0001a0002c0002t0001 | a0001c0004t0001g0069a0001c0004t0001g0070a0001c0004t0001g0071others(3): Show | 6 | 320 | 0.0188 | -3 | c.-10 others(14): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 1065 | chr4 | TogoVar | ||||||
CENPF_chr1_214598195_214669571 | 214616918 | TTTC | T | intron_variant | MODIFIER | HG01109.hp2 HG02257.hp1 HG02922.hp2 others(2): Show |
a0013a0049 | a0013c0015a0049c0060 | a0013c0015t0004a0049c0060t0004 | a0013c0015t0004g0050a0013c0015t0004g0051a0013c0015t0004g0052others(2): Show | 5 | 282 | 0.0177 | -3 | c.360 others(20): Show |
CENPF | ENSG00000117724.15 | transcript | ENST00000366955.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CENPF_chr1_214598195_214669571 | 214623544 | TTTG | T | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG02257.hp2 others(19): Show |
a0004a0011a0024others(1): Show | a0004c0004a0011c0018a0024c0028others(1): Show | a0004c0004t0002a0011c0018t0002a0024c0028t0002others(1): Show | a0004c0004t0002g0212a0004c0004t0002g0216a0004c0004t0002g0217others(19): Show | 22 | 282 | 0.0780 | -3 | c.106 others(22): Show |
CENPF | ENSG00000117724.15 | transcript | ENST00000366955.8 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CENPF_chr1_214598195_214669571 | 214630134 | AAAG | A | intron_variant | MODIFIER | HG01106.hp1 HG01891.hp1 HG02109.hp2 others(12): Show |
a0006a0012a0034 | a0006c0007a0006c0030a0012c0014others(1): Show | a0006c0007t0002a0006c0030t0002a0012c0014t0002others(1): Show | a0006c0007t0002g0036a0006c0007t0002g0038a0006c0007t0002g0040others(12): Show | 15 | 282 | 0.0532 | -3 | c.119 others(20): Show |
CENPF | ENSG00000117724.15 | transcript | ENST00000366955.8 | protein_coding | 8/19 | chr1 | TogoVar | ||||||
CENPF_chr1_214598195_214669571 | 214653434 | TCTC | T | intron_variant | MODIFIER | HG02055.hp1 HG02717.hp2 HG03540.hp1 others(2): Show |
a0009a0026 | a0009c0010a0026c0062 | a0009c0010t0001a0026c0062t0001 | a0009c0010t0001g0139a0009c0010t0001g0143a0009c0010t0001g0159others(2): Show | 5 | 282 | 0.0177 | -3 | c.832 others(20): Show |
CENPF | ENSG00000117724.15 | transcript | ENST00000366955.8 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CENPF_chr1_214598195_214669571 | 214653467 | CTTT | C | intron_variant | MODIFIER | HG00642.hp2 HG01891.hp2 HG02109.hp1 others(13): Show |
a0004a0007a0011others(4): Show | a0004c0013a0004c0033a0007c0012others(6): Show | a0004c0013t0002a0004c0033t0002a0007c0012t0001others(6): Show | a0004c0013t0002g0031a0004c0013t0002g0032a0004c0013t0002g0033others(12): Show | 16 | 282 | 0.0567 | -3 | c.832 others(20): Show |
CENPF | ENSG00000117724.15 | transcript | ENST00000366955.8 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CENPH_chr5_69184583_69215357 | 69185350 | CTTT | C | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG00733.hp1 others(65): Show |
a0001a0004 | a0001c0001a0004c0002 | a0001c0001t0001a0001c0001t0002a0004c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0089a0001c0001t0001g0164others(44): Show | 68 | 388 | 0.1753 | -3 | c.-42 others(14): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 4232 | chr5 | TogoVar | ||||||
CENPH_chr5_69184583_69215357 | 69197913 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(157): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0019others(130): Show | 160 | 388 | 0.4124 | -3 | c.371 others(18): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CENPI_chrX_101093204_101171126 | 101107060 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00558.hp2 others(90): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(16): Show | a0001c0001t0001g0223a0001c0001t0003g0190a0001c0001t0003g0191others(89): Show | 93 | 282 | 0.3298 | -3 | c.365 others(20): Show |
CENPI | ENSG00000102384.14 | transcript | ENST00000682095.1 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar |