view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRSK2_chr11_1384934_1467689 | 1412346 | CGCCCCGT others(65): Show |
C | intron_variant | MODIFIER | NA18975.hp2 NA19002.hp2 |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0017 | a0002c0002t0007g0351 a0002c0002t0017g0353 |
2 | 360 | 0.0056 | -72 | c.91+ others(89): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1412394 | CGGTGGGT others(65): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01099.hp1 HG01167.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0008others(2): Show | a0001c0001t0001g0127 a0001c0001t0001g0141 a0001c0001t0004g0136 others(5): Show |
8 | 360 | 0.0222 | -72 | c.91+ others(89): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80725753 | TATAACAT others(65): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0020 | 1 | 265 | 0.0038 | -72 | c.138 others(89): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 14/40 | chrX | TogoVar | |||||||
C12orf50_chr12_87975035_88034401 | 88010370 | TAGATTAT others(65): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01069.hp1 HG01884.hp2 others(32): Show |
a0002a0005 | a0002c0002a0002c0003a0005c0006 | a0002c0002t0001a0002c0002t0003a0002c0003t0001others(1): Show | a0002c0002t0001g0014 a0002c0002t0001g0026 a0002c0002t0001g0140 others(26): Show |
35 | 272 | 0.1287 | -72 | c.134 others(91): Show |
C12orf50 | ENSG00000165805.10 | transcript | ENST00000298699.7 | protein_coding | 3/12 | chr12 | TogoVar | |||||||
C7orf57_chr7_48030543_48066297 | 48039726 | AGGATATT others(65): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(181): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0004a0002c0001others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(10): Show | a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0039 others(166): Show |
184 | 404 | 0.4555 | -72 | c.56- others(87): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68673254 | AGGAGACT others(65): Show |
A | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0018 | 1 | 128 | 0.0078 | -72 | c.124 others(93): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23218300 | CCTCCCGC others(65): Show |
C | intron_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0125 | 1 | 278 | 0.0036 | -72 | c.108 others(91): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23218325 | CTCCCGCA others(65): Show |
C | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0275 | 1 | 278 | 0.0036 | -72 | c.108 others(91): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23218397 | TTCCCGCA others(65): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0135 | 1 | 278 | 0.0036 | -72 | c.108 others(91): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23218468 | CCTCCCGC others(65): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00639.hp2 others(62): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0015others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 others(62): Show |
65 | 278 | 0.2338 | -72 | c.108 others(91): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2438280 | AGTGGTAA others(65): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0102 | 1 | 104 | 0.0096 | -72 | c.478 others(91): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18442944 | GTATATAT others(65): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0120 | 1 | 200 | 0.0050 | -72 | c.333 others(91): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18442944 | GTATATAT others(65): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0231 | 1 | 302 | 0.0033 | -72 | c.171 others(91): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44409111 | ATATATAT others(65): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0175 |
2 | 198 | 0.0101 | -72 | c.376 others(91): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38743329 | TGTCCCGA others(65): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(155): Show |
a0001a0004a0005others(12): Show | a0001c0001a0001c0003a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(133): Show |
158 | 342 | 0.4620 | -72 | c.238 others(87): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
CAPN9_chr1_230742388_230806989 | 230751601 | GAAAGAAA others(65): Show |
G | intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0391 | 1 | 394 | 0.0025 | -72 | c.214 others(89): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80208947 | AAGCCTCT others(65): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0162 | 1 | 376 | 0.0027 | -72 | c.*60 others(81): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 24/24 | 603 | chr17 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10744344 | CGGCACCA others(65): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01928.hp2 HG01993.hp1 others(6): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0001t0057a0001c0002t0001others(6): Show | a0001c0001t0003g0021 a0001c0001t0057g0073 a0001c0002t0001g0089 others(6): Show |
9 | 236 | 0.0381 | -72 | c.-77 others(91): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88933685 | TACGCCTC others(65): Show |
T | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0263 | 1 | 284 | 0.0035 | -72 | c.152 others(91): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44778417 | ACCTCCTC others(65): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(125): Show |
a0000a0001a0002others(3): Show | a0000c0002a0000c0004a0000c0007others(9): Show | a0000c0002t0001a0000c0004t0001a0000c0007t0001others(9): Show | a0000c0002t0001g0012 a0000c0002t0001g0013 a0000c0002t0001g0032 others(115): Show |
128 | 344 | 0.3721 | -72 | c.353 others(87): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CBLC_chr19_44772890_44805652 | 44778633 | CCCCCTCC others(65): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(125): Show |
a0000a0001a0002others(3): Show | a0000c0002a0000c0004a0000c0007others(9): Show | a0000c0002t0001a0000c0004t0001a0000c0007t0001others(9): Show | a0000c0002t0001g0012 a0000c0002t0001g0013 a0000c0002t0001g0032 others(115): Show |
128 | 344 | 0.3721 | -72 | c.353 others(87): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CBLC_chr19_44772890_44805652 | 44800822 | GCAGCCCC others(65): Show |
G | downstream_gene_variant | MODIFIER | HG00738.hp2 HG02647.hp1 HG02896.hp1 others(2): Show |
a0000 | a0000c0002a0000c0004 | a0000c0002t0001a0000c0004t0001 | a0000c0002t0001g0067 a0000c0004t0001g0092 a0000c0004t0001g0093 others(2): Show |
5 | 344 | 0.0145 | -72 | c.*28 others(81): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 171 | chr19 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44801037 | TGCAGCCC others(65): Show |
T | downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0050 | 1 | 344 | 0.0029 | -72 | c.*49 others(81): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 386 | chr19 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44801181 | TCCAGCCC others(65): Show |
T | downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0064 | 1 | 344 | 0.0029 | -72 | c.*63 others(81): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 530 | chr19 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44801362 | GCAGCCCC others(65): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp1 NA19043.hp2 |
a0001 | a0001c0006a0001c0009 | a0001c0006t0001a0001c0009t0001 | a0001c0006t0001g0047 a0001c0009t0001g0073 |
2 | 344 | 0.0058 | -72 | c.*82 others(81): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 711 | chr19 | TogoVar | |||||||
CCDC57_chr17_82096470_82217842 | 82150532 | TGCACATC others(65): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02717.hp1 HG02895.hp1 others(5): Show |
a0001a0006a0012 | a0001c0001a0006c0010a0012c0017 | a0001c0001t0001a0006c0010t0001a0012c0017t0001 | a0001c0001t0001g0167 a0006c0010t0001g0010 a0006c0010t0001g0011 others(5): Show |
8 | 252 | 0.0318 | -72 | c.245 others(90): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 15/18 | chr17 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 420050 | AAACACAC others(65): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00544.hp1 others(57): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0016a0002c0002t0001others(3): Show | a0001c0001t0002g0032 a0001c0001t0002g0041 a0001c0001t0002g0056 others(53): Show |
60 | 432 | 0.1389 | -72 | c.413 others(89): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 420789 | AAACACAC others(65): Show |
A | intron_variant | MODIFIER | HG01433.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0209 a0001c0001t0010g0281 |
2 | 432 | 0.0046 | -72 | c.413 others(89): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 421973 | AAATACAC others(65): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG02080.hp1 HG03471.hp1 others(13): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0151 a0001c0001t0001g0185 a0001c0001t0001g0367 others(13): Show |
16 | 432 | 0.0370 | -72 | c.413 others(89): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCSAP_chr1_229316015_229348047 | 229336069 | TATGCAAA others(65): Show |
T | intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0250 | 1 | 436 | 0.0023 | -72 | c.367 others(89): Show |
CCSAP | ENSG00000154429.11 | transcript | ENST00000284617.7 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
CD177_chr19_43348686_43368172 | 43361730 | GGCCTGGA others(65): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01943.hp1 HG01952.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 a0002c0002t0002g0106 a0002c0002t0002g0114 |
6 | 466 | 0.0129 | -72 | c.108 others(89): Show |
CD177 | ENSG00000204936.10 | transcript | ENST00000618265.5 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CDH15_chr16_89166748_89200492 | 89189058 | CAGATGCC others(65): Show |
C | intron_variant | MODIFIER | HG02074.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0073 | 1 | 406 | 0.0025 | -72 | c.978 others(87): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61689799 | GGGCTGGG others(65): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02148.hp2 HG02257.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0028others(11): Show | a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0002g0007 others(12): Show |
15 | 106 | 0.1415 | -72 | c.170 others(91): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDK2AP1_chr12_123255976_123276856 | 123275088 | GGCTGGGG others(65): Show |
G | upstream_gene_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 1 | 328 | 0.0031 | -72 | c.-35 others(83): Show |
CDK2AP1 | ENSG00000111328.7 | transcript | ENST00000261692.7 | protein_coding | 3233 | chr12 | TogoVar | |||||||
CEACAM19_chr19_44666482_44689355 | 44668531 | AATATATG others(65): Show |
A | upstream_gene_variant | MODIFIER | HG02809.hp1 HG02895.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0037 a0001c0001t0009g0083 a0001c0001t0009g0084 |
4 | 390 | 0.0103 | -72 | c.-34 others(83): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 2950 | chr19 | TogoVar | |||||||
CELF1_chr11_47460937_47558132 | 47541721 | AGAAAGAA others(65): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00609.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0096 a0001c0001t0001g0118 a0001c0001t0001g0148 others(30): Show |
33 | 340 | 0.0971 | -72 | c.-15 others(93): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
CENPU_chr4_184689085_184739096 | 184697354 | TCAATTGA others(65): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 a0001c0001t0001g0229 |
2 | 358 | 0.0056 | -72 | c.114 others(89): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 12/12 | chr4 | TogoVar | |||||||
CEP104_chr1_3807086_3862211 | 3832468 | GACCAGGA others(65): Show |
G | intron_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0052 | 1 | 382 | 0.0026 | -72 | c.166 others(91): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 12/21 | chr1 | TogoVar | |||||||
CEP76_chr18_12667625_12707723 | 12669051 | TTTTTTTT others(65): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01109.hp2 HG01243.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0027 others(9): Show |
16 | 380 | 0.0421 | -72 | c.*42 others(83): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 3573 | chr18 | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128437918 | TACACGTA others(65): Show |
T | downstream_gene_variant | MODIFIER | HG02572.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 |
2 | 400 | 0.0050 | -72 | c.*10 others(83): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 572 | chr9 | TogoVar | |||||||
CFAP251_chr12_121913592_122008919 | 121939547 | ATTTGTGA others(65): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG03453.hp1 HG03471.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0332 a0003c0003t0001g0333 a0003c0003t0001g0334 |
3 | 354 | 0.0085 | -72 | c.999 others(89): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 5/21 | chr12 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80782556 | GATATATA others(65): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02280.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 others(3): Show |
6 | 96 | 0.0625 | -72 | c.334 others(91): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80782671 | AATATACA others(65): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0002 | a0001c0001t0001g0018 a0001c0009t0002g0015 |
2 | 96 | 0.0208 | -72 | c.334 others(91): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | chr4 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132927297 | ACGTCCCG others(65): Show |
A | intron_variant | MODIFIER | HG02148.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0163 | 1 | 246 | 0.0041 | -72 | c.967 others(87): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 9/57 | chr10 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96664688 | GGTATATA others(65): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG01081.hp1 HG01106.hp1 others(25): Show |
a0001a0004a0006others(5): Show | a0001c0001a0001c0012a0001c0047others(9): Show | a0001c0001t0001a0001c0012t0001a0001c0047t0001others(9): Show | a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 others(25): Show |
28 | 268 | 0.1045 | -72 | c.556 others(89): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | chr12 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96664705 | ATATATAT others(65): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG02895.hp2 HG02965.hp1 others(3): Show |
a0003a0004a0014others(1): Show | a0003c0002a0004c0005a0014c0014others(1): Show | a0003c0002t0001a0004c0005t0001a0014c0014t0001others(1): Show | a0003c0002t0001g0242 a0003c0002t0001g0264 a0004c0005t0001g0231 others(3): Show |
6 | 268 | 0.0224 | -72 | c.556 others(89): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP73_chr12_113144724_113164276 | 113162832 | GGGAGGGG others(65): Show |
G | downstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 326 | 0.0031 | -72 | c.*41 others(83): Show |
CFAP73 | ENSG00000186710.12 | transcript | ENST00000335621.11 | protein_coding | 3557 | chr12 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1934694 | TACACAGG others(65): Show |
T | intron_variant | MODIFIER | HG02965.hp1 NA20300.hp2 NA21309.hp2 |
a0002a0056 | a0002c0005a0056c0090 | a0002c0005t0002a0056c0090t0002 | a0002c0005t0002g0083 a0002c0005t0002g0136 a0056c0090t0002g0001 |
3 | 278 | 0.0108 | -72 | c.301 others(91): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 25/38 | chr1 | TogoVar | |||||||
CFAP99_chr4_2413955_2468002 | 2465515 | ACAGCTAA others(65): Show |
A | downstream_gene_variant | MODIFIER | HG01167.hp2 HG02258.hp1 HG02451.hp1 others(15): Show |
a0001a0005 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0002t0001g0004 a0001c0002t0001g0049 a0001c0002t0001g0100 others(14): Show |
18 | 350 | 0.0514 | -72 | c.*25 others(83): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 2514 | chr4 | TogoVar | |||||||
CHAD_chr17_50459496_50473880 | 50472360 | ATTTCCAA others(65): Show |
A | upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 386 | 0.0026 | -72 | c.-36 others(83): Show |
CHAD | ENSG00000136457.10 | transcript | ENST00000508540.6 | protein_coding | 3481 | chr17 | TogoVar |