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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CATSPERD_chr19_5715637_5783734 | 5715643 | TAAAAAA | T | upstream_gene_variant | MODIFIER | HG01257.hp1 HG01346.hp1 HG01928.hp2 others(5): Show |
a0002a0003a0008others(1): Show | a0002c0002a0002c0019a0003c0003others(3): Show | a0002c0002t0003a0002c0019t0001a0003c0003t0001others(3): Show | a0002c0002t0003g0072 a0002c0002t0003g0081 a0002c0019t0001g0330 others(5): Show |
8 | 336 | 0.0238 | -6 | c.-50 others(17): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4993 | chr19 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5716259 | CATATAT | C | upstream_gene_variant | MODIFIER | HG01515.hp2 HG01891.hp2 HG02074.hp2 others(4): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0003a0004c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(4): Show | a0001c0001t0001g0145 a0001c0001t0002g0296 a0003c0003t0001g0108 others(4): Show |
7 | 336 | 0.0208 | -6 | c.-44 others(17): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4377 | chr19 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5751531 | CAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG01255.hp2 HG01515.hp2 others(5): Show |
a0001a0002a0031 | a0001c0001a0002c0002a0031c0035 | a0001c0001t0001a0002c0002t0001a0031c0035t0001 | a0001c0001t0001g0038 a0001c0001t0001g0145 a0001c0001t0001g0265 others(5): Show |
8 | 336 | 0.0238 | -6 | c.988 others(19): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5779062 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02818.hp2 others(5): Show |
a0001a0006a0033 | a0001c0001a0006c0007a0033c0030 | a0001c0001t0001a0001c0001t0002a0006c0007t0002others(1): Show | a0001c0001t0001g0077 a0001c0001t0001g0093 a0001c0001t0001g0099 others(5): Show |
8 | 336 | 0.0238 | -6 | c.*38 others(15): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 329 | chr19 | TogoVar | |||||||
CATSPERE_chr1_244456273_244645504 | 244489450 | ATTTTTT | A | intron_variant | MODIFIER | HG02083.hp2 HG02895.hp2 HG06807.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0005 | a0001c0001t0001a0002c0004t0002a0003c0005t0001 | a0001c0001t0001g0034 a0001c0001t0001g0056 a0002c0004t0002g0074 others(2): Show |
5 | 206 | 0.0243 | -6 | c.327 others(21): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244516191 | AAATAAT | A | intron_variant | MODIFIER | HG01261.hp2 HG01496.hp1 HG01515.hp1 others(29): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0006a0001c0007others(5): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(9): Show | a0001c0003t0001g0031 a0001c0003t0001g0044 a0001c0003t0001g0045 others(29): Show |
32 | 206 | 0.1553 | -6 | c.430 others(23): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244553648 | CATATAT | C | intron_variant | MODIFIER | HG02896.hp2 HG03471.hp1 |
a0001a0007 | a0001c0002a0007c0010 | a0001c0002t0001a0007c0010t0001 | a0001c0002t0001g0088 a0007c0010t0001g0138 |
2 | 206 | 0.0097 | -6 | c.102 others(23): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244557532 | CATATAT | C | intron_variant | MODIFIER | HG01261.hp1 HG01515.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0003 | a0001c0001t0002g0098 a0001c0006t0003g0186 |
2 | 206 | 0.0097 | -6 | c.103 others(25): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244621149 | TTATAAA | T | intron_variant | MODIFIER | HG01496.hp2 HG03831.hp2 HG03834.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 a0001c0001t0001g0093 a0001c0001t0001g0094 others(2): Show |
5 | 206 | 0.0243 | -6 | c.264 others(25): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | chr1 | TogoVar | |||||||
CATSPERG_chr19_38330830_38375943 | 38344856 | GACACAC | G | intron_variant | MODIFIER | HG00597.hp1 HG02055.hp1 HG02109.hp1 others(7): Show |
a0001a0006 | a0001c0001a0001c0005a0001c0007others(2): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(2): Show | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0005t0001g0014 others(7): Show |
10 | 376 | 0.0266 | -6 | c.669 others(21): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 6/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CAT_chr11_34433934_34477060 | 34475997 | GTTTTTT | G | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG01433.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0066 others(22): Show |
31 | 424 | 0.0731 | -6 | c.*45 others(17): Show |
CAT | ENSG00000121691.7 | transcript | ENST00000241052.5 | protein_coding | 3938 | chr11 | TogoVar | |||||||
CAV1_chr7_116520036_116566179 | 116533348 | TAAATAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG01123.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(13): Show |
16 | 342 | 0.0468 | -6 | c.195 others(23): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116534362 | GATATAT | G | intron_variant | MODIFIER | HG02451.hp1 HG02615.hp2 HG03098.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0275 a0001c0001t0002g0010 a0001c0001t0002g0246 others(6): Show |
10 | 342 | 0.0292 | -6 | c.195 others(23): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116555598 | AAGAAAG | A | intron_variant | MODIFIER | HG00140.hp1 HG02630.hp1 HG02738.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0103 a0001c0001t0004g0315 a0001c0001t0004g0329 others(2): Show |
5 | 342 | 0.0146 | -6 | c.196 others(23): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116561913 | GATAGAA | G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG01168.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0036 a0001c0001t0004g0007 a0001c0001t0004g0027 others(44): Show |
50 | 342 | 0.1462 | -6 | c.*26 others(17): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 735 | chr7 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42401701 | GAAAGAA | G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(51): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0014 others(48): Show |
54 | 338 | 0.1598 | -6 | c.*29 others(17): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 747 | chr17 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42410892 | CAAAAAA | C | intron_variant | MODIFIER | HG01123.hp2 HG01433.hp2 HG01516.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0062 others(8): Show |
11 | 338 | 0.0325 | -6 | c.472 others(23): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42413565 | GGAAAAA | G | intron_variant | MODIFIER | HG02109.hp1 HG02615.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0010 | a0001c0002t0003g0241 a0001c0002t0010g0027 a0001c0002t0010g0253 |
4 | 338 | 0.0118 | -6 | c.472 others(23): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
CAVIN3_chr11_6313946_6325501 | 6316424 | TTAACTC | T | downstream_gene_variant | MODIFIER | HG02132.hp1 NA18943.hp1 NA18956.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 426 | 0.0070 | -6 | c.*27 others(17): Show |
CAVIN3 | ENSG00000170955.10 | transcript | ENST00000303927.4 | protein_coding | 2521 | chr11 | TogoVar | |||||||
CAVIN3_chr11_6313946_6325501 | 6318702 | AAAACAC | A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01891.hp2 HG02258.hp1 others(6): Show |
a0001a0002 | a0001c0009a0002c0002 | a0001c0009t0001a0002c0002t0001 | a0001c0009t0001g0009 a0002c0002t0001g0002 |
9 | 426 | 0.0211 | -6 | c.*45 others(15): Show |
CAVIN3 | ENSG00000170955.10 | transcript | ENST00000303927.4 | protein_coding | 243 | chr11 | TogoVar | |||||||
CAVIN4_chr9_100573079_100593389 | 100587901 | AAAAAAG | A | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01069.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0007 a0001c0001t0005g0024 a0001c0001t0005g0025 others(3): Show |
23 | 382 | 0.0602 | -6 | c.*14 others(17): Show |
CAVIN4 | ENSG00000170681.7 | transcript | ENST00000307584.6 | protein_coding | 2/2 | 1455 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CAVIN4_chr9_100573079_100593389 | 100589587 | CGTGTGT | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00673.hp1 HG00735.hp1 others(39): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0016others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0029 others(9): Show |
42 | 382 | 0.1100 | -6 | c.*31 others(17): Show |
CAVIN4 | ENSG00000170681.7 | transcript | ENST00000307584.6 | protein_coding | 1199 | chr9 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33494241 | GTGTATA | G | intron_variant | MODIFIER | HG01361.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0236 a0001c0001t0005g0125 a0001c0001t0006g0091 others(1): Show |
4 | 298 | 0.0134 | -6 | c.34+ others(21): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33529743 | TTATATA | T | intron_variant | MODIFIER | HG01167.hp2 NA18522.hp2 NA19030.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0015a0001c0001t0031 | a0001c0001t0012g0162 a0001c0001t0012g0164 a0001c0001t0015g0015 others(2): Show |
5 | 298 | 0.0168 | -6 | c.34+ others(23): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33541869 | GGTTTTT | G | intron_variant | MODIFIER | HG01123.hp2 HG02109.hp1 HG03490.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0006a0001c0004t0044 | a0001c0004t0006g0093 a0001c0004t0006g0140 a0001c0004t0006g0142 others(1): Show |
4 | 298 | 0.0134 | -6 | c.34+ others(23): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33547687 | ATGTGTG | A | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp2 HG01496.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0222 a0001c0001t0004g0029 a0001c0001t0004g0030 others(9): Show |
12 | 298 | 0.0403 | -6 | c.34+ others(23): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33547920 | GTTACAC | G | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 |
3 | 298 | 0.0101 | -6 | c.34+ others(23): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33634670 | CAAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00738.hp2 HG01070.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0004g0017 a0001c0001t0004g0019 a0001c0001t0004g0020 others(32): Show |
35 | 298 | 0.1175 | -6 | c.122 others(25): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33642105 | CTTTTTT | C | intron_variant | MODIFIER | HG01070.hp2 HG01167.hp2 HG01496.hp1 others(11): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0001t0012a0001c0001t0031others(1): Show | a0001c0001t0004g0017 a0001c0001t0004g0025 a0001c0001t0004g0028 others(11): Show |
14 | 298 | 0.0470 | -6 | c.148 others(25): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33643753 | CTATATA | C | intron_variant | MODIFIER | HG00741.hp1 HG02280.hp1 HG03225.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0012a0001c0001t0020a0001c0002t0002others(2): Show | a0001c0001t0012g0165 a0001c0001t0020g0160 a0001c0002t0002g0181 others(3): Show |
6 | 298 | 0.0201 | -6 | c.148 others(23): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67029188 | AGGCGGC | A | 5_prime_UTR_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG02109.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0009 | a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 others(23): Show |
26 | 212 | 0.1226 | -6 | c.-20 others(15): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 1/6 | 195 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CBFB_chr16_67024149_67106058 | 67051912 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG02145.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0023 a0001c0001t0005g0188 a0001c0001t0005g0189 others(8): Show |
11 | 212 | 0.0519 | -6 | c.283 others(25): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67064828 | GTTGTTT | G | intron_variant | MODIFIER | HG02559.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0207 a0001c0001t0004g0208 |
2 | 212 | 0.0094 | -6 | c.283 others(23): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67092698 | CTTTTTT | C | intron_variant | MODIFIER | HG00609.hp1 HG00738.hp1 HG02055.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0101 a0001c0001t0002g0010 a0001c0001t0004g0207 others(18): Show |
21 | 212 | 0.0991 | -6 | c.496 others(23): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBLB_chr3_105650461_105874012 | 105665406 | TAAATAA | T | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00673.hp1 others(28): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0020 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(3): Show | a0001c0001t0004g0312 a0001c0001t0006g0346 a0001c0001t0006g0349 others(28): Show |
31 | 380 | 0.0816 | -6 | c.268 others(25): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 18/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105754517 | GAGAGAC | G | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02257.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0023others(5): Show | a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0056 others(10): Show |
13 | 380 | 0.0342 | -6 | c.567 others(23): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105754523 | CAGAGAG | C | intron_variant | MODIFIER | HG01167.hp2 HG01261.hp1 HG01361.hp2 others(9): Show |
a0001a0006 | a0001c0002a0001c0011a0006c0023 | a0001c0002t0007a0001c0002t0010a0001c0002t0026others(2): Show | a0001c0002t0007g0012 a0001c0002t0007g0017 a0001c0002t0007g0019 others(9): Show |
12 | 380 | 0.0316 | -6 | c.567 others(23): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105829666 | CAAAAAA | C | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG00673.hp2 others(36): Show |
a0001a0008a0009 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0045 others(36): Show |
39 | 380 | 0.1026 | -6 | c.419 others(25): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105868060 | TACATAA | T | intron_variant | MODIFIER | HG01952.hp2 HG02647.hp2 HG03453.hp2 |
a0001a0008 | a0001c0011a0008c0015 | a0001c0011t0046a0001c0011t0047a0008c0015t0045 | a0001c0011t0046g0379 a0001c0011t0047g0378 a0008c0015t0045g0380 |
3 | 380 | 0.0079 | -6 | c.-14 others(21): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 1/18 | chr3 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44799645 | TTTGTTG | T | intron_variant | MODIFIER | HG02056.hp1 HG02071.hp1 HG02135.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0141 a0001c0001t0001g0167 a0001c0001t0001g0185 others(21): Show |
25 | 344 | 0.0727 | -6 | c.136 others(23): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CBLIF_chr11_59824273_59850499 | 59831479 | TTATATA | T | intron_variant | MODIFIER | HG01261.hp2 HG02145.hp2 HG02486.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0211 a0002c0002t0001g0213 a0002c0002t0001g0214 others(8): Show |
11 | 342 | 0.0322 | -6 | c.119 others(23): Show |
CBLIF | ENSG00000134812.8 | transcript | ENST00000257248.3 | protein_coding | 8/8 | chr11 | TogoVar | |||||||
CBLL1_chr7_107739142_107766667 | 107764446 | TTGTGTG | T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00609.hp1 others(96): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0002g0002 others(23): Show |
99 | 432 | 0.2292 | -6 | c.*52 others(17): Show |
CBLL1 | ENSG00000105879.13 | transcript | ENST00000440859.8 | protein_coding | 2780 | chr7 | TogoVar | |||||||
CBLL2_chrX_22267913_22279461 | 22271143 | GAAAAAA | G | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01070.hp1 HG01081.hp1 others(39): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0003t0001g0000 others(2): Show |
42 | 346 | 0.1214 | -6 | c.-18 others(17): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 1769 | chrX | TogoVar | |||||||
CBLL2_chrX_22267913_22279461 | 22271960 | GTTTTTT | G | upstream_gene_variant | MODIFIER | HG00438.hp2 HG04199.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0000 a0002c0002t0001g0000 |
2 | 346 | 0.0058 | -6 | c.-10 others(17): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 952 | chrX | TogoVar | |||||||
CBLN2_chr18_72531681_72549342 | 72542909 | CCACACA | C | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG01123.hp2 others(47): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0119 a0001c0001t0001g0120 others(16): Show |
50 | 416 | 0.1202 | -6 | c.-16 others(23): Show |
CBLN2 | ENSG00000141668.10 | transcript | ENST00000269503.9 | protein_coding | 2/4 | chr18 | TogoVar | |||||||
CBLN2_chr18_72531681_72549342 | 72547110 | TCACACA | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(143): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(40): Show |
146 | 416 | 0.3510 | -6 | c.-33 others(17): Show |
CBLN2 | ENSG00000141668.10 | transcript | ENST00000269503.9 | protein_coding | 2769 | chr18 | TogoVar | |||||||
CBLN4_chr20_55992357_56010519 | 56006967 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00741.hp1 HG02129.hp2 HG02145.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0002g0002 a0001c0001t0003g0004 a0001c0001t0006g0007 others(4): Show |
17 | 426 | 0.0399 | -6 | c.-28 others(17): Show |
CBLN4 | ENSG00000054803.4 | transcript | ENST00000064571.3 | protein_coding | 1449 | chr20 | TogoVar | |||||||
CBLN4_chr20_55992357_56010519 | 56010246 | GTCTCTC | G | upstream_gene_variant | MODIFIER | HG02129.hp2 HG03490.hp2 NA18906.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0002g0002 others(2): Show |
6 | 426 | 0.0141 | -6 | c.-60 others(17): Show |
CBLN4 | ENSG00000054803.4 | transcript | ENST00000064571.3 | protein_coding | 4728 | chr20 | TogoVar | |||||||
CBL_chr11_119201339_119313149 | 119236595 | GTATATA | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(88): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(16): Show | a0001c0001t0001g0010 a0001c0001t0001g0050 a0001c0001t0001g0054 others(88): Show |
91 | 364 | 0.2500 | -6 | c.443 others(23): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119253835 | TAAAAAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(139): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(23): Show | a0001c0001t0001g0010 a0001c0001t0001g0123 a0001c0001t0001g0129 others(139): Show |
142 | 364 | 0.3901 | -6 | c.444 others(25): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |