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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP131_chr17_81184596_81227965 | 81226767 | CAGG | C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG01891.hp2 others(5): Show |
a0003a0017a0045others(3): Show | a0003c0008a0017c0022a0045c0070others(3): Show | a0003c0008t0003a0017c0022t0001a0045c0070t0001others(3): Show | a0003c0008t0003g0312a0017c0022t0001g0130a0017c0022t0001g0131others(5): Show | 8 | 384 | 0.0208 | -3 | c.-40 others(14): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3803 | chr17 | TogoVar | ||||||
CEP135_chr4_55943945_56038361 | 55961764 | TAAA | T | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG00733.hp2 others(34): Show |
a0002a0003a0010 | a0002c0002a0003c0004a0010c0017 | a0002c0002t0003a0002c0002t0004a0002c0002t0006others(3): Show | a0002c0002t0003g0002a0002c0002t0003g0014a0002c0002t0003g0034others(29): Show | 37 | 346 | 0.1069 | -3 | c.699 others(20): Show |
CEP135 | ENSG00000174799.12 | transcript | ENST00000257287.5 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CEP135_chr4_55943945_56038361 | 56004926 | ATTT | A | intron_variant | MODIFIER | HG00408.hp2 HG00738.hp2 HG01099.hp2 others(55): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0012a0001c0001t0030a0002c0002t0003others(7): Show | a0001c0001t0012g0155a0001c0001t0012g0156a0001c0001t0012g0158others(50): Show | 58 | 346 | 0.1676 | -3 | c.228 others(22): Show |
CEP135 | ENSG00000174799.12 | transcript | ENST00000257287.5 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CEP152_chr15_48732938_48816069 | 48765636 | ATTT | A | intron_variant | MODIFIER | HG02922.hp1 HG03209.hp1 HG03710.hp2 others(3): Show |
a0001a0007 | a0001c0001a0007c0006 | a0001c0001t0001a0001c0001t0004a0007c0006t0001 | a0001c0001t0001g0040a0001c0001t0001g0064a0001c0001t0001g0223others(3): Show | 6 | 342 | 0.0175 | -3 | c.228 others(22): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 17/26 | chr15 | TogoVar | ||||||
CEP152_chr15_48732938_48816069 | 48798916 | TATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00738.hp1 others(38): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0007a0001c0014others(5): Show | a0001c0001t0001a0001c0007t0001a0001c0014t0001others(5): Show | a0001c0001t0001g0009a0001c0001t0001g0098a0001c0001t0001g0174others(37): Show | 41 | 342 | 0.1199 | -3 | c.88- others(16): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 2/26 | chr15 | TogoVar | ||||||
CEP152_chr15_48732938_48816069 | 48813279 | GAGA | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(305): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0007a0001c0009others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(293): Show | 308 | 342 | 0.9006 | -3 | c.-23 others(14): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 2211 | chr15 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84122424 | TCAA | T | downstream_gene_variant | MODIFIER | HG02818.hp2 HG02965.hp1 |
a0005 | a0005c0010 | a0005c0010t0002 | a0005c0010t0002g0163a0005c0010t0002g0164 | 2 | 214 | 0.0094 | -3 | c.*26 others(14): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 1825 | chr6 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84125426 | AAGG | A | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02258.hp2 others(12): Show |
a0001a0002a0008 | a0001c0005a0001c0008a0002c0012others(1): Show | a0001c0005t0004a0001c0005t0005a0001c0008t0005others(2): Show | a0001c0005t0004g0005a0001c0005t0004g0085a0001c0005t0004g0086others(12): Show | 15 | 214 | 0.0701 | -3 | c.400 others(20): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 26/26 | chr6 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84161714 | AGAG | A | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG01257.hp2 others(12): Show |
a0001a0003a0011 | a0001c0001a0003c0003a0003c0021others(1): Show | a0001c0001t0003a0003c0003t0003a0003c0021t0003others(1): Show | a0001c0001t0003g0065a0001c0001t0003g0112a0003c0003t0003g0040others(12): Show | 15 | 214 | 0.0701 | -3 | c.267 others(18): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 20/26 | chr6 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84170373 | CAAA | C | intron_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG01243.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0012others(3): Show | a0001c0001t0002a0001c0004t0002a0002c0012t0004others(4): Show | a0001c0001t0002g0200a0001c0004t0002g0211a0002c0012t0004g0014others(14): Show | 17 | 214 | 0.0794 | -3 | c.228 others(20): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 17/26 | chr6 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84186595 | TTTC | T | conservative_inframe_deletion | MODERATE | HG01074.hp2 HG01243.hp2 HG01257.hp2 others(11): Show |
a0003a0011 | a0003c0003a0003c0021a0011c0018 | a0003c0003t0001a0003c0003t0003a0003c0021t0003others(1): Show | a0003c0003t0001g0043a0003c0003t0003g0040a0003c0003t0003g0041others(11): Show | 14 | 214 | 0.0654 | -3 | c.113 others(12): Show |
p.Glu others(6): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 12/27 | 1260/5155 | 1135/4212 | 379/1403 | chr6 | TogoVar | ||
CEP162_chr6_84119250_84232643 | 84199558 | CAAA | C | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG01257.hp2 others(12): Show |
a0001a0003a0006others(1): Show | a0001c0004a0003c0003a0003c0021others(2): Show | a0001c0004t0010a0003c0003t0003a0003c0021t0003others(2): Show | a0001c0004t0010g0104a0003c0003t0003g0040a0003c0003t0003g0041others(12): Show | 15 | 214 | 0.0701 | -3 | c.835 others(20): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 9/26 | chr6 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84202518 | CTTT | C | intron_variant | MODIFIER | HG02258.hp1 HG02717.hp1 HG02970.hp1 others(3): Show |
a0001a0008 | a0001c0005a0001c0008a0008c0014 | a0001c0005t0004a0001c0008t0005a0008c0014t0004 | a0001c0005t0004g0198a0001c0008t0005g0203a0001c0008t0005g0204others(3): Show | 6 | 214 | 0.0280 | -3 | c.688 others(18): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 7/26 | chr6 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84226030 | AAGG | A | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02615.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0002a0001c0007t0002a0002c0002t0002 | a0001c0001t0002g0110a0001c0007t0002g0017a0001c0007t0002g0018others(4): Show | 7 | 214 | 0.0327 | -3 | c.57+ others(16): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 2/26 | chr6 | TogoVar | ||||||
CEP164_chr11_117322854_117418266 | 117341437 | TTTG | T | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG01099.hp2 others(37): Show |
a0001a0004a0017others(1): Show | a0001c0005a0001c0013a0001c0036others(3): Show | a0001c0005t0005a0001c0005t0016a0001c0005t0025others(5): Show | a0001c0005t0005g0009a0001c0005t0005g0032a0001c0005t0005g0033others(36): Show | 40 | 390 | 0.1026 | -3 | c.83- others(18): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP170B_chr14_104860268_104901747 | 104863798 | ACCC | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(85): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(22): Show | a0001c0001t0001g0143a0001c0001t0001g0145a0001c0001t0002g0243others(70): Show | 88 | 328 | 0.2683 | -3 | c.-17 others(14): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 1469 | chr14 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104872421 | TGCC | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(89): Show |
a0001a0002a0006others(4): Show | a0001c0002a0001c0003a0001c0022others(15): Show | a0001c0002t0002a0001c0003t0002a0001c0003t0020others(19): Show | a0001c0002t0002g0002a0001c0002t0002g0005a0001c0002t0002g0027others(73): Show | 92 | 328 | 0.2805 | -3 | c.106 others(20): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CEP170B_chr14_104860268_104901747 | 104877851 | TCCC | T | intron_variant | MODIFIER | HG01099.hp1 HG01261.hp2 HG02004.hp1 others(13): Show |
a0001a0002a0010 | a0001c0003a0001c0006a0001c0037others(7): Show | a0001c0003t0002a0001c0006t0005a0001c0037t0005others(7): Show | a0001c0003t0002g0188a0001c0003t0002g0198a0001c0006t0005g0036others(13): Show | 16 | 328 | 0.0488 | -3 | c.196 others(16): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CEP170B_chr14_104860268_104901747 | 104899503 | CTTT | C | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01167.hp2 HG01255.hp1 others(38): Show |
a0001a0003a0010others(2): Show | a0001c0003a0001c0005a0001c0008others(19): Show | a0001c0003t0002a0001c0005t0003a0001c0008t0003others(19): Show | a0001c0003t0002g0225a0001c0005t0003g0032a0001c0005t0003g0251others(35): Show | 41 | 328 | 0.1250 | -3 | c.*45 others(14): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 2757 | chr14 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243122275 | AGTT | A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG03209.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0094a0001c0001t0003g0112a0001c0001t0003g0123others(1): Show | 4 | 303 | 0.0132 | -3 | c.*41 others(14): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 2152 | chr1 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243155358 | TTTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(84): Show |
a0001a0009a0010 | a0001c0001a0001c0013a0009c0017others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(83): Show | 87 | 303 | 0.2871 | -3 | c.391 others(20): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 14/19 | chr1 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243231153 | GCAT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(80): Show |
a0001a0003a0009others(1): Show | a0001c0001a0001c0007a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(79): Show | 83 | 303 | 0.2739 | -3 | c.-41 others(20): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243231190 | CATT | C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00609.hp1 others(80): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0007a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0120others(75): Show | 83 | 303 | 0.2739 | -3 | c.-41 others(20): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243254525 | CCAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(88): Show |
a0001a0009a0010 | a0001c0001a0001c0013a0009c0017others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(87): Show | 91 | 303 | 0.3003 | -3 | c.-42 others(18): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
CEP192_chr18_12986362_13130036 | 12987552 | CTTT | C | upstream_gene_variant | MODIFIER | HG01071.hp2 HG01167.hp1 HG01255.hp1 others(63): Show |
a0001a0002a0005others(11): Show | a0001c0002a0001c0033a0002c0001others(12): Show | a0001c0002t0001a0001c0033t0001a0002c0001t0001others(12): Show | a0001c0002t0001g0212a0001c0002t0001g0213a0001c0033t0001g0211others(61): Show | 66 | 392 | 0.1684 | -3 | c.-38 others(14): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 3809 | chr18 | TogoVar | ||||||
CEP192_chr18_12986362_13130036 | 12995053 | ATTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(249): Show |
a0000a0001a0002others(23): Show | a0000c0035a0001c0002a0001c0033others(30): Show | a0000c0035t0001a0001c0002t0001a0001c0033t0001others(31): Show | a0000c0035t0001g0264a0001c0002t0001g0016a0001c0002t0001g0017others(230): Show | 252 | 392 | 0.6429 | -3 | c.-5+ others(18): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CEP192_chr18_12986362_13130036 | 13041303 | GATA | G | intron_variant | MODIFIER | NA19001.hp1 NA19056.hp1 NA19067.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0244a0001c0002t0001g0270a0001c0002t0001g0273others(1): Show | 4 | 392 | 0.0102 | -3 | c.193 others(20): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 14/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CEP192_chr18_12986362_13130036 | 13049812 | GAGC | G | conservative_inframe_deletion | MODERATE | HG01952.hp2 HG02486.hp2 HG02615.hp2 others(7): Show |
a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0006a0007c0007t0002g0023a0007c0007t0002g0024others(6): Show | 10 | 392 | 0.0255 | -3 | c.294 others(12): Show |
p.Gln others(6): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 17/45 | 3021/7960 | 2941/7614 | 981/2537 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |
CEP192_chr18_12986362_13130036 | 13118798 | ACAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp2 others(73): Show |
a0000a0001a0025others(1): Show | a0000c0035a0001c0002a0001c0033others(6): Show | a0000c0035t0001a0001c0002t0001a0001c0033t0001others(6): Show | a0000c0035t0001g0264a0001c0002t0001g0016a0001c0002t0001g0017others(70): Show | 76 | 392 | 0.1939 | -3 | c.747 others(22): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CEP19_chr3_196701277_196717250 | 196702632 | CAAA | C | downstream_gene_variant | MODIFIER | HG01070.hp1 HG02257.hp1 HG02809.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002a0001c0001t0002g0001a0001c0001t0002g0008others(3): Show | 11 | 432 | 0.0255 | -3 | c.*49 others(14): Show |
CEP19 | ENSG00000174007.9 | transcript | ENST00000409690.5 | protein_coding | 3644 | chr3 | TogoVar | ||||||
CEP19_chr3_196701277_196717250 | 196706782 | CCTT | C | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00544.hp2 others(65): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0006a0001c0001t0014others(3): Show | a0001c0001t0003g0004a0001c0001t0003g0017a0001c0001t0003g0018others(15): Show | 68 | 432 | 0.1574 | -3 | c.*76 others(12): Show |
CEP19 | ENSG00000174007.9 | transcript | ENST00000409690.5 | protein_coding | 3/3 | 766 | chr3 | TogoVar | |||||
CEP19_chr3_196701277_196717250 | 196710842 | TAAA | T | intron_variant | MODIFIER | HG00280.hp2 HG01934.hp2 HG02027.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006 | a0001c0001t0002g0028a0001c0001t0002g0044a0001c0001t0002g0051others(3): Show | 12 | 432 | 0.0278 | -3 | c.-71 others(20): Show |
CEP19 | ENSG00000174007.9 | transcript | ENST00000409690.5 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
CEP19_chr3_196701277_196717250 | 196713836 | CAAA | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(158): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0011others(40): Show | 161 | 432 | 0.3727 | -3 | c.-19 others(14): Show |
CEP19 | ENSG00000174007.9 | transcript | ENST00000409690.5 | protein_coding | 1587 | chr3 | TogoVar | ||||||
CEP19_chr3_196701277_196717250 | 196714463 | CTTT | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01496.hp1 HG01934.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0025others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(6): Show | 25 | 432 | 0.0579 | -3 | c.-26 others(14): Show |
CEP19 | ENSG00000174007.9 | transcript | ENST00000409690.5 | protein_coding | 2214 | chr3 | TogoVar | ||||||
CEP20_chr16_15860719_15893603 | 15861477 | AAAT | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG01069.hp1 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(20): Show | 27 | 433 | 0.0624 | -3 | c.*59 others(14): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 4241 | chr16 | TogoVar | ||||||
CEP20_chr16_15860719_15893603 | 15871364 | GAGA | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG01081.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018a0001c0001t0005g0027a0001c0001t0005g0028others(10): Show | 17 | 433 | 0.0393 | -3 | c.448 others(20): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 4/4 | chr16 | TogoVar | ||||||
CEP20_chr16_15860719_15893603 | 15887761 | CAGG | C | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0053a0001c0001t0009g0054a0001c0001t0009g0055 | 3 | 433 | 0.0069 | -3 | c.28+ others(16): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
CEP250_chr20_35450598_35524280 | 35451042 | GAAA | G | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01106.hp2 HG01934.hp1 others(23): Show |
a0001a0011a0016 | a0001c0001a0011c0027a0016c0024 | a0001c0001t0001a0001c0001t0006a0001c0001t0030others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(21): Show | 26 | 260 | 0.1000 | -3 | c.-50 others(14): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 4555 | chr20 | TogoVar | ||||||
CEP250_chr20_35450598_35524280 | 35458966 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(86): Show |
a0001a0006a0009others(4): Show | a0001c0001a0006c0008a0009c0030others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(75): Show | 89 | 260 | 0.3423 | -3 | c.-22 others(20): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CEP250_chr20_35450598_35524280 | 35519579 | CAAA | C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01167.hp2 HG01175.hp1 others(24): Show |
a0001a0014 | a0001c0001a0001c0003a0014c0026 | a0001c0001t0003a0001c0001t0005a0001c0001t0018others(9): Show | a0001c0001t0003g0022a0001c0001t0005g0064a0001c0001t0018g0126others(24): Show | 27 | 260 | 0.1039 | -3 | c.*79 others(14): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 300 | chr20 | TogoVar | ||||||
CEP290_chr12_88044016_88147088 | 88079341 | ATAT | A | intron_variant | MODIFIER | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0023a0009c0010t0001g0024a0009c0010t0001g0025 | 3 | 234 | 0.0128 | -3 | c.522 others(20): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 38/53 | chr12 | TogoVar | ||||||
CEP290_chr12_88044016_88147088 | 88124602 | TGAA | T | intron_variant | MODIFIER | HG01099.hp1 HG02004.hp1 HG02135.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0155a0001c0001t0001g0156others(5): Show | 8 | 234 | 0.0342 | -3 | c.118 others(20): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | TogoVar | ||||||
CEP295_chr11_93656682_93735358 | 93685849 | TACA | T | intron_variant | MODIFIER | HG00438.hp2 HG02080.hp2 NA19005.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0255a0001c0001t0001g0256others(3): Show | 7 | 354 | 0.0198 | -3 | c.111 others(22): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 9/29 | chr11 | TogoVar | ||||||
CEP295_chr11_93656682_93735358 | 93710986 | CCTT | C | intron_variant | MODIFIER | HG02165.hp1 NA18940.hp2 NA18941.hp1 others(11): Show |
a0006a0017 | a0006c0004a0006c0037a0017c0036 | a0006c0004t0001a0006c0037t0001a0017c0036t0001 | a0006c0004t0001g0002a0006c0004t0001g0027a0006c0004t0001g0029others(8): Show | 14 | 354 | 0.0396 | -3 | c.574 others(22): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 18/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP295_chr11_93656682_93735358 | 93712856 | TTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(197): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0016a0002c0002others(22): Show | a0001c0001t0001a0001c0016t0001a0002c0002t0001others(23): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(170): Show | 200 | 354 | 0.5650 | -3 | c.574 others(22): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 18/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP295_chr11_93656682_93735358 | 93734485 | ATTC | A | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02647.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136a0001c0001t0001g0148a0001c0001t0001g0167 | 3 | 354 | 0.0085 | -3 | c.*42 others(14): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 4128 | chr11 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 179957031 | GTTT | G | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
a0007 | a0007c0008a0007c0031 | a0007c0008t0006a0007c0008t0011a0007c0031t0006 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | 248 | 0.0242 | -3 | c.-14 others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 179971004 | AAAT | A | intron_variant | MODIFIER | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(1): Show |
a0002 | a0002c0002a0002c0022 | a0002c0002t0002a0002c0022t0002 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(1): Show | 4 | 248 | 0.0161 | -3 | c.-13 others(22): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180007798 | CATT | C | intron_variant | MODIFIER | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | 248 | 0.0242 | -3 | c.124 others(22): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180014994 | ATAT | A | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
a0002a0012a0017 | a0002c0002a0012c0012a0017c0021 | a0002c0002t0004a0002c0002t0020a0012c0012t0009others(1): Show | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | 248 | 0.0726 | -3 | c.205 others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |