| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CECR2_chr22_17364460_17563151 | 17404016 | TTGGGAGA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(118): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0008a0001c0009others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0042a0001c0001t0001g0063a0001c0001t0001g0093others(118): Show | 121 | 324 | 0.3735 | -9 | c.126 others(28): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | chr22 | TogoVar | ||||||
| CECR2_chr22_17364460_17563151 | 17421614 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02615.hp1 HG02809.hp2 others(7): Show |
a0001a0002a0015 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0006a0001c0001t0008a0001c0001t0010others(7): Show | a0001c0001t0006g0311a0001c0001t0008g0308a0001c0001t0010g0002others(7): Show | 10 | 324 | 0.0309 | -9 | c.126 others(28): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CECR2_chr22_17364460_17563151 | 17445543 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00609.hp1 others(127): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0023a0001c0001t0001g0053a0001c0001t0001g0069others(127): Show | 130 | 324 | 0.4012 | -9 | c.127 others(28): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CECR2_chr22_17364460_17563151 | 17482115 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG01257.hp2 HG01258.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0169a0001c0001t0001g0226a0001c0001t0001g0246others(26): Show | 29 | 324 | 0.0895 | -9 | c.221 others(26): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CECR2_chr22_17364460_17563151 | 17512720 | AAAAAGAA others(2): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02559.hp2 others(7): Show |
a0004 | a0004c0004 | a0004c0004t0006a0004c0004t0012a0004c0004t0017others(4): Show | a0004c0004t0006g0197a0004c0004t0006g0268a0004c0004t0012g0144others(7): Show | 10 | 324 | 0.0309 | -9 | c.954 others(24): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CECR2_chr22_17364460_17563151 | 17525285 | CCAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01168.hp2 NA18968.hp2 NA20129.hp1 others(1): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0004 | a0002c0002t0055a0003c0003t0001a0003c0003t0007others(1): Show | a0002c0002t0055g0039a0003c0003t0001g0251a0003c0003t0007g0154others(1): Show | 4 | 324 | 0.0124 | -9 | c.110 others(28): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | chr22 | TogoVar | ||||||
| CELA3A_chr1_21996657_22017542 | 22006735 | AATAATAA others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG01884.hp1 others(22): Show |
a0004a0005a0007 | a0004c0005a0005c0009a0007c0011 | a0004c0005t0001a0005c0009t0001a0007c0011t0001 | a0004c0005t0001g0008a0004c0005t0001g0018a0004c0005t0001g0024others(8): Show | 25 | 419 | 0.0597 | -9 | c.363 others(24): Show |
CELA3A | ENSG00000142789.20 | transcript | ENST00000290122.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CELF1_chr11_47460937_47558132 | 47498242 | ACAAAAAG others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00642.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0011a0001c0001t0002g0012a0001c0001t0002g0013others(19): Show | 22 | 340 | 0.0647 | -9 | c.71+ others(24): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 3/14 | chr11 | TogoVar | ||||||
| CELF2_chr10_11012872_11341675 | 11024622 | GTAATAAT others(2): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG02109.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0010a0001c0001t0001g0031a0001c0001t0001g0174others(17): Show | 20 | 194 | 0.1031 | -9 | c.74+ others(24): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CELF2_chr10_11012872_11341675 | 11076247 | TGGAGGAT others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02559.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0010a0001c0001t0020a0001c0002t0007others(5): Show | a0001c0001t0010g0015a0001c0001t0020g0036a0001c0002t0007g0058others(6): Show | 9 | 194 | 0.0464 | -9 | c.74+ others(26): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CELF2_chr10_11012872_11341675 | 11086578 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01081.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0041a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0041g0100a0001c0002t0001g0067a0001c0002t0002g0061others(5): Show | 8 | 194 | 0.0412 | -9 | c.74+ others(26): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CELF2_chr10_11012872_11341675 | 11262836 | TACTTCTT others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02109.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(10): Show | a0001c0001t0001g0010a0001c0001t0001g0123a0001c0001t0003g0149others(15): Show | 18 | 194 | 0.0928 | -9 | c.539 others(26): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CELF4_chr18_37238040_37570798 | 37301711 | GTGAAGGC others(2): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG01978.hp2 HG02132.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0160a0001c0001t0002g0148a0001c0001t0010g0116others(1): Show | 4 | 184 | 0.0217 | -9 | c.448 others(28): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
| CELF5_chr19_3219661_3302076 | 3248918 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG01975.hp2 HG02132.hp1 HG02293.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0104a0001c0001t0001g0119a0001c0001t0002g0122others(10): Show | 13 | 262 | 0.0496 | -9 | c.260 others(26): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CELF5_chr19_3219661_3302076 | 3256534 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02723.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006 | a0001c0001t0002g0251a0001c0001t0005g0249a0001c0001t0006g0250 | 3 | 262 | 0.0115 | -9 | c.342 others(26): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CELF5_chr19_3219661_3302076 | 3299512 | CTCCTCTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01070.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0002 | a0001c0001t0002g0156a0001c0001t0003g0083a0001c0001t0003g0105others(3): Show | 6 | 262 | 0.0229 | -9 | c.*27 others(20): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2437 | chr19 | TogoVar | ||||||
| CELF5_chr19_3219661_3302076 | 3299515 | CTCTTCTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01934.hp1 HG01943.hp1 HG02040.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094a0001c0001t0001g0143a0001c0001t0001g0183 | 3 | 262 | 0.0115 | -9 | c.*27 others(20): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2440 | chr19 | TogoVar | ||||||
| CELF5_chr19_3219661_3302076 | 3301326 | GTTTTTTT others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG00735.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0002a0001c0001t0002g0053a0001c0001t0002g0130others(23): Show | 26 | 262 | 0.0992 | -9 | c.*46 others(20): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 4251 | chr19 | TogoVar | ||||||
| CELF6_chr15_72279727_72325157 | 72325119 | CTTTCTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02300.hp1 HG02647.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0053a0001c0001t0001g0107 | 3 | 300 | 0.0100 | -9 | c.-52 others(20): Show |
CELF6 | ENSG00000140488.16 | transcript | ENST00000287202.10 | protein_coding | 4963 | chr15 | TogoVar | ||||||
| CEMIP2_chr9_71678366_71773513 | 71732686 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00609.hp1 others(67): Show |
a0001a0004a0006others(3): Show | a0001c0001a0001c0015a0004c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0106a0001c0001t0001g0143a0001c0001t0001g0144others(67): Show | 70 | 320 | 0.2188 | -9 | c.139 others(26): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 6/23 | chr9 | TogoVar | ||||||
| CEMIP_chr15_80774370_80956771 | 80817602 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp2 others(48): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(8): Show | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0015others(48): Show | 51 | 254 | 0.2008 | -9 | c.-17 others(30): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| CEND1_chr11_782115_795090 | 789985 | GCGCCCGC others(2): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01243.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(1): Show | a0001c0001t0001g0013a0001c0001t0004g0004a0001c0001t0004g0005others(3): Show | 28 | 414 | 0.0676 | -9 | c.-83 others(22): Show |
CEND1 | ENSG00000184524.6 | transcript | ENST00000330106.5 | protein_coding | 1/1 | chr11 | TogoVar | ||||||
| CENPJ_chr13_24877279_24927861 | 24908435 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01257.hp1 others(33): Show |
a0001a0002a0012others(1): Show | a0001c0001a0001c0022a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(4): Show | a0001c0001t0002g0205a0001c0001t0002g0206a0001c0001t0004g0015others(28): Show | 36 | 440 | 0.0818 | -9 | c.866 others(24): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 4/16 | chr13 | TogoVar | ||||||
| CENPK_chr5_65512766_65568168 | 65514254 | TTTTTTTT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00558.hp2 others(58): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0302a0001c0001t0001g0306a0001c0001t0002g0012others(55): Show | 61 | 374 | 0.1631 | -9 | c.*42 others(20): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 3511 | chr5 | TogoVar | ||||||
| CENPK_chr5_65512766_65568168 | 65550173 | TCAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG01515.hp1 HG02965.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0116a0001c0001t0001g0118a0001c0001t0001g0147others(5): Show | 8 | 374 | 0.0214 | -9 | c.241 others(26): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 5/10 | chr5 | TogoVar | ||||||
| CENPL_chr1_173794550_173829883 | 173825449 | CATTATTA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp2 others(86): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0012a0001c0002t0003others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0010others(40): Show | 89 | 358 | 0.2486 | -9 | c.-13 others(20): Show |
CENPL | ENSG00000120334.16 | transcript | ENST00000682279.1 | protein_coding | 567 | chr1 | TogoVar | ||||||
| CENPP_chr9_92320953_92625529 | 92357461 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG02055.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0212a0001c0001t0001g0213a0001c0001t0002g0042others(10): Show | 13 | 260 | 0.0500 | -9 | c.467 others(28): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CENPP_chr9_92320953_92625529 | 92555003 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG02015.hp2 HG02257.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0003g0169a0001c0001t0003g0170a0001c0001t0003g0171others(15): Show | 18 | 260 | 0.0692 | -9 | c.565 others(28): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CENPS_chr1_10425433_10447808 | 10430702 | TTGGCTTA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(237): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0009others(162): Show | 240 | 410 | 0.5854 | -9 | c.51+ others(22): Show |
CENPS | ENSG00000175279.22 | transcript | ENST00000309048.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CENPS_chr1_10425433_10447808 | 10437758 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(149): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0017others(106): Show | 152 | 410 | 0.3707 | -9 | c.210 others(26): Show |
CENPS | ENSG00000175279.22 | transcript | ENST00000309048.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CENPU_chr4_184689085_184739096 | 184694537 | ACAGATGA others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01109.hp1 others(20): Show |
a0003a0005 | a0003c0003a0005c0007 | a0003c0003t0003a0005c0007t0003 | a0003c0003t0003g0026a0003c0003t0003g0027a0003c0003t0003g0245others(18): Show | 23 | 358 | 0.0643 | -9 | c.*74 others(18): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 13/13 | 742 | chr4 | TogoVar | |||||
| CENPU_chr4_184689085_184739096 | 184700514 | CCAAGCAG others(2): Show |
C | intron_variant | MODIFIER | HG02970.hp2 HG03130.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0145a0001c0001t0010g0146a0001c0001t0010g0148 | 3 | 358 | 0.0084 | -9 | c.986 others(24): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 11/12 | chr4 | TogoVar | ||||||
| CENPVL2_chrX_51676212_51687831 | 51685791 | CTTGTGTG others(2): Show |
C | upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 237 | 0.0042 | -9 | c.-29 others(20): Show |
CENPVL2 | ENSG00000283093.1 | transcript | ENST00000634648.1 | protein_coding | 2961 | chrX | TogoVar | ||||||
| CENPVL2_chrX_51676212_51687831 | 51685836 | GTGTGTGT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 237 | 0.0042 | -9 | c.-30 others(20): Show |
CENPVL2 | ENSG00000283093.1 | transcript | ENST00000634648.1 | protein_coding | 3006 | chrX | TogoVar | ||||||
| CEP112_chr17_65630537_66197133 | 66132168 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG00741.hp2 others(8): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(2): Show | a0001c0002t0001g0034a0001c0002t0001g0035a0001c0003t0001g0033others(8): Show | 11 | 112 | 0.0982 | -9 | c.564 others(24): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 5/26 | chr17 | TogoVar | ||||||
| CEP112_chr17_65630537_66197133 | 66149879 | TGTTTGTT others(2): Show |
T | intron_variant | MODIFIER | HG02027.hp2 HG02145.hp1 HG02602.hp2 others(1): Show |
a0001a0002a0006 | a0001c0003a0002c0001a0006c0010 | a0001c0003t0002a0002c0001t0001a0002c0001t0002others(1): Show | a0001c0003t0002g0109a0002c0001t0001g0094a0002c0001t0002g0111others(1): Show | 4 | 112 | 0.0357 | -9 | c.471 others(28): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 4/26 | chr17 | TogoVar | ||||||
| CEP128_chr14_80491479_80946738 | 80699655 | GATTAAAC others(2): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00733.hp1 others(139): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0008a0001c0009others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0012others(139): Show | 142 | 164 | 0.8659 | -9 | c.280 others(30): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
| CEP128_chr14_80491479_80946738 | 80704676 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG01109.hp1 others(45): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0008a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0008t0005others(14): Show | a0001c0001t0001g0019a0001c0001t0001g0026a0001c0001t0001g0030others(45): Show | 48 | 164 | 0.2927 | -9 | c.280 others(30): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
| CEP128_chr14_80491479_80946738 | 80944849 | AAAAAAAA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG02040.hp1 others(7): Show |
a0002a0004a0013 | a0002c0002a0004c0004a0013c0021 | a0002c0002t0003a0002c0002t0004a0004c0004t0013others(1): Show | a0002c0002t0003g0076a0002c0002t0003g0079a0002c0002t0003g0081others(7): Show | 10 | 164 | 0.0610 | -9 | c.-34 others(20): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 3112 | chr14 | TogoVar | ||||||
| CEP135_chr4_55943945_56038361 | 56024132 | ATATAATT others(2): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02300.hp1 NA18522.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0011a0006c0008t0011 | a0001c0001t0011g0025a0001c0001t0011g0026a0006c0008t0011g0028others(1): Show | 4 | 346 | 0.0116 | -9 | c.332 others(26): Show |
CEP135 | ENSG00000174799.12 | transcript | ENST00000257287.5 | protein_coding | 24/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CEP164_chr11_117322854_117418266 | 117357423 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(62): Show |
a0003a0012a0014others(1): Show | a0003c0003a0003c0022a0012c0016others(2): Show | a0003c0003t0002a0003c0003t0004a0003c0003t0005others(6): Show | a0003c0003t0002g0128a0003c0003t0004g0006a0003c0003t0004g0034others(60): Show | 65 | 390 | 0.1667 | -9 | c.394 others(26): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CEP164_chr11_117322854_117418266 | 117361233 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00621.hp2 NA18945.hp1 NA18966.hp2 others(4): Show |
a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0002a0002c0001t0003g0185a0002c0001t0003g0194others(1): Show | 7 | 390 | 0.0180 | -9 | c.394 others(24): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CEP170_chr1_243119428_243260281 | 243231153 | GCATCATC others(2): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01123.hp1 HG01515.hp1 others(3): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0040a0001c0001t0001g0075a0001c0001t0001g0076others(3): Show | 6 | 303 | 0.0198 | -9 | c.-41 others(26): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
| CEP192_chr18_12986362_13130036 | 13106452 | CACCCCAC others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp2 others(66): Show |
a0001a0029 | a0001c0002a0001c0034a0001c0037others(2): Show | a0001c0002t0001a0001c0034t0001a0001c0037t0001others(2): Show | a0001c0002t0001g0016a0001c0002t0001g0017a0001c0002t0001g0018others(63): Show | 69 | 392 | 0.1760 | -9 | c.704 others(28): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 40/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CEP20_chr16_15860719_15893603 | 15861477 | AAATAATA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00621.hp2 others(49): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0005a0002c0002t0004a0002c0002t0008others(3): Show | a0001c0001t0005g0018a0002c0002t0004g0008a0002c0002t0004g0012others(28): Show | 52 | 433 | 0.1201 | -9 | c.*59 others(20): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 4241 | chr16 | TogoVar | ||||||
| CEP20_chr16_15860719_15893603 | 15890556 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01361.hp1 HG02132.hp2 HG02647.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0050a0001c0001t0001g0236a0001c0001t0001g0237others(3): Show | 7 | 433 | 0.0162 | -9 | c.-19 others(20): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 1954 | chr16 | TogoVar | ||||||
| CEP20_chr16_15860719_15893603 | 15891789 | CTTTCTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp1 HG03471.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016a0001c0001t0002g0195 | 3 | 433 | 0.0069 | -9 | c.-32 others(20): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 3187 | chr16 | TogoVar | ||||||
| CEP250_chr20_35450598_35524280 | 35451042 | GAAAAAAA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00673.hp1 HG02486.hp2 HG02559.hp2 others(2): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0001c0001t0006a0007c0010t0020 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0006g0194others(2): Show | 5 | 260 | 0.0192 | -9 | c.-50 others(20): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 4555 | chr20 | TogoVar | ||||||
| CEP250_chr20_35450598_35524280 | 35482421 | AAAAATTT others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
a0001a0005a0017 | a0001c0005a0001c0011a0005c0007others(1): Show | a0001c0005t0011a0001c0005t0065a0001c0011t0023others(5): Show | a0001c0005t0011g0141a0001c0005t0011g0142a0001c0005t0011g0143others(11): Show | 14 | 260 | 0.0539 | -9 | c.258 others(28): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | TogoVar | ||||||
| CEP350_chr1_179949810_180119875 | 180047757 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
a0007 | a0007c0008a0007c0031 | a0007c0008t0006a0007c0008t0011a0007c0031t0006 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | 248 | 0.0242 | -9 | c.462 others(26): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |