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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CARMIL1_chr6_25274374_25625530 | 25390309 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp1 HG02717.hp2 |
a0001a0002 | a0001c0002a0001c0009a0002c0007 | a0001c0002t0011a0001c0009t0011a0002c0007t0006 | a0001c0002t0011g0044 a0001c0009t0011g0046 a0002c0007t0006g0106 |
3 | 177 | 0.0169 | -9 | c.139 others(28): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | chr6 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25390311 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01433.hp1 HG02738.hp1 others(6): Show |
a0001a0002a0005 | a0001c0004a0001c0006a0001c0012others(4): Show | a0001c0004t0004a0001c0006t0002a0001c0012t0006others(4): Show | a0001c0004t0004g0130 a0001c0006t0002g0030 a0001c0012t0006g0114 others(6): Show |
9 | 183 | 0.0492 | -9 | c.139 others(28): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | chr6 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25619733 | CTTTTTTT others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG01109.hp2 others(13): Show |
a0001a0008 | a0001c0003a0001c0004a0001c0006others(3): Show | a0001c0003t0004a0001c0004t0004a0001c0004t0014others(4): Show | a0001c0003t0004g0003 a0001c0003t0004g0119 a0001c0004t0004g0023 others(13): Show |
16 | 48 | 0.3333 | -9 | c.*17 others(18): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 37/37 | 170 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARS2_chr13_110636417_110711116 | 110643097 | CAAACTAC others(2): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0020 a0001c0003t0001g0231 |
3 | 370 | 0.0081 | -9 | c.141 others(26): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 13/14 | chr13 | TogoVar | |||||||
CASKIN2_chr17_75495261_75520537 | 75517101 | CGCCCTCC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp1 others(77): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0002a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0041 a0001c0001t0001g0073 a0001c0001t0001g0172 others(40): Show |
80 | 412 | 0.1942 | -9 | c.-21 others(20): Show |
CASKIN2 | ENSG00000177303.10 | transcript | ENST00000321617.8 | protein_coding | 1565 | chr17 | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41517770 | TAGCAGCA others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00735.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 others(15): Show |
18 | 123 | 0.1463 | -9 | c.*26 others(20): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 27/27 | 2641 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41633053 | AAAAAATA others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00735.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 a0001c0001t0002g0017 a0001c0001t0002g0026 others(7): Show |
10 | 161 | 0.0621 | -9 | c.915 others(26): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 9/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41633056 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 NA18957.hp2 NA18973.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0029 a0001c0001t0002g0010 a0001c0001t0002g0011 others(4): Show |
7 | 154 | 0.0455 | -9 | c.915 others(26): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 9/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41822557 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01515.hp1 HG02074.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0051 others(4): Show |
7 | 16 | 0.4375 | -9 | c.172 others(28): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 2/26 | chrX | TogoVar | |||||||
CASP4_chr11_104937866_104973574 | 104949330 | TTACTGTG others(2): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG02027.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0038 others(6): Show |
20 | 356 | 0.0562 | -9 | c.781 others(24): Show |
CASP4 | ENSG00000196954.14 | transcript | ENST00000444739.7 | protein_coding | 5/8 | chr11 | TogoVar | |||||||
CASP4_chr11_104937866_104973574 | 104961465 | CTTGTCTG others(2): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02717.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0065 a0001c0001t0001g0157 |
9 | 356 | 0.0253 | -9 | c.8-6 others(22): Show |
CASP4 | ENSG00000196954.14 | transcript | ENST00000444739.7 | protein_coding | 1/8 | chr11 | TogoVar | |||||||
CASP7_chr10_113674912_113735905 | 113687803 | TCTTTCTT others(2): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01168.hp2 HG01433.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0008t0002others(1): Show | a0001c0001t0002g0021 a0001c0001t0002g0235 a0001c0001t0002g0237 others(12): Show |
17 | 396 | 0.0429 | -9 | c.-1+ others(24): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 74976531 | TCTCCTCC others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(121): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0002 a0001c0001t0001g0067 a0001c0001t0001g0069 others(121): Show |
124 | 143 | 0.8671 | -9 | c.113 others(28): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74999601 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01169.hp1 HG01175.hp1 HG01175.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0030others(1): Show | a0001c0001t0001g0077 a0001c0001t0001g0106 a0001c0001t0001g0158 others(4): Show |
7 | 18 | 0.3889 | -9 | c.114 others(26): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10694584 | CCCGCCGC others(2): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG02622.hp2 others(11): Show |
a0001a0003a0014 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0007a0001c0002t0025others(9): Show | a0001c0001t0001g0061 a0001c0001t0001g0085 a0001c0002t0007g0060 others(11): Show |
14 | 135 | 0.1037 | -9 | c.-23 others(24): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 3/20 | chr1 | TogoVar | |||||||
CATSPER1_chr11_66011752_66031479 | 66016532 | CCCGGCAC others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG00673.hp1 others(83): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0024others(10): Show | a0001c0001t0001a0001c0003t0001a0001c0024t0001others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(37): Show |
86 | 406 | 0.2118 | -9 | c.*34 others(18): Show |
CATSPER1 | ENSG00000175294.6 | transcript | ENST00000312106.6 | protein_coding | 219 | chr11 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91640243 | TATTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp1 HG01069.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0020 others(31): Show |
34 | 270 | 0.1259 | -9 | c.143 others(27): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 15/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91652670 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01243.hp2 others(12): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(5): Show | a0001c0001t0001g0059 a0001c0001t0001g0158 a0001c0001t0001g0159 others(12): Show |
15 | 19 | 0.7895 | -9 | c.143 others(28): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 15/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91727505 | TACAAATA others(2): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0004a0003c0004t0004 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0003c0004t0004g0002 others(1): Show |
4 | 270 | 0.0148 | -9 | c.79+ others(24): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 2/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91727804 | GGATTTAG others(2): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02080.hp1 HG02109.hp2 others(17): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001a0002c0003t0002others(1): Show | a0001c0002t0001g0141 a0001c0002t0001g0143 a0002c0003t0001g0139 others(17): Show |
20 | 270 | 0.0741 | -9 | c.79+ others(24): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 2/26 | chr14 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5716570 | GTTCCCAG others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01346.hp1 HG02027.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0040a0001c0045a0002c0019others(2): Show | a0001c0040t0001a0001c0045t0001a0002c0019t0001others(2): Show | a0001c0040t0001g0329 a0001c0045t0001g0151 a0002c0019t0001g0331 others(3): Show |
6 | 334 | 0.0180 | -9 | c.-41 others(20): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4066 | chr19 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5779062 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp1 others(100): Show |
a0001a0003a0004others(11): Show | a0001c0001a0003c0004a0003c0005others(16): Show | a0001c0001t0002a0003c0004t0001a0003c0005t0001others(17): Show | a0001c0001t0002g0057 a0001c0001t0002g0093 a0001c0001t0002g0095 others(100): Show |
103 | 161 | 0.6398 | -9 | c.*38 others(18): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 329 | chr19 | TogoVar | |||||||
CATSPERE_chr1_244456273_244645504 | 244489450 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02523.hp1 HG02886.hp2 HG02896.hp2 others(3): Show |
a0001a0007 | a0001c0001a0001c0006a0007c0010 | a0001c0001t0001a0001c0006t0002a0007c0010t0001 | a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0135 others(3): Show |
6 | 11 | 0.5455 | -9 | c.327 others(24): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244531235 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG01496.hp1 HG01884.hp1 others(23): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0007a0001c0019others(4): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(7): Show | a0001c0003t0001g0031 a0001c0003t0001g0044 a0001c0003t0001g0045 others(23): Show |
26 | 181 | 0.1436 | -9 | c.536 others(28): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116555476 | GAGGAAAG others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0100 others(38): Show |
50 | 318 | 0.1572 | -9 | c.196 others(26): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42413566 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG01346.hp2 HG01952.hp1 HG02129.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0015others(3): Show | a0001c0001t0002g0013 a0001c0001t0002g0030 a0001c0001t0002g0031 others(16): Show |
21 | 89 | 0.2360 | -9 | c.472 others(26): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33621287 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0275 a0001c0001t0003g0085 a0001c0001t0003g0087 others(36): Show |
39 | 106 | 0.3679 | -9 | c.510 others(26): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67048814 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01993.hp2 HG03225.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(5): Show |
8 | 210 | 0.0381 | -9 | c.282 others(28): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBLB_chr3_105650461_105874012 | 105679335 | TTAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG01123.hp2 others(49): Show |
a0001 | a0001c0001a0001c0016a0001c0017 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(6): Show | a0001c0001t0001g0057 a0001c0001t0003g0001 a0001c0001t0003g0112 others(48): Show |
52 | 267 | 0.1948 | -9 | c.242 others(26): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 16/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105780653 | GTTTTTTG others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG02080.hp2 NA18951.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0286 a0001c0002t0008g0287 a0001c0002t0008g0288 others(10): Show |
13 | 344 | 0.0378 | -9 | c.420 others(26): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CBL_chr11_119201339_119313149 | 119206289 | CCGGCGGC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG02258.hp2 HG02280.hp2 others(17): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(5): Show | a0001c0001t0001g0252 a0001c0001t0002g0002 a0001c0001t0002g0005 others(16): Show |
20 | 288 | 0.0694 | -9 | c.-12 others(18): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 49 | chr11 | TogoVar | |||||||
CBL_chr11_119201339_119313149 | 119264433 | CTTCTCTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG00741.hp2 others(23): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0007c0012 | a0001c0001t0002a0001c0001t0018a0002c0003t0002others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0258 a0001c0001t0002g0263 others(23): Show |
26 | 362 | 0.0718 | -9 | c.444 others(26): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119270436 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(109): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(12): Show | a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0134 others(109): Show |
112 | 221 | 0.5068 | -9 | c.444 others(26): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119283625 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG02257.hp2 HG02486.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0022a0001c0002t0024others(1): Show | a0001c0002t0006g0037 a0001c0002t0006g0040 a0001c0002t0006g0041 others(8): Show |
11 | 42 | 0.2619 | -9 | c.143 others(28): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBS_chr21_43048191_43080835 | 43077083 | GAAAAAAA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01261.hp2 HG01928.hp1 HG01934.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0013 others(8): Show |
17 | 38 | 0.4474 | -9 | c.-14 others(20): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1249 | chr21 | TogoVar | |||||||
CBX4_chr17_79828156_79844440 | 79834441 | CGTGGTGG others(2): Show |
C | conservative_inframe_deletion | MODERATE | NA18979.hp1 NA18994.hp2 NA19066.hp2 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0036 a0005c0006t0001g0123 |
3 | 400 | 0.0075 | -9 | c.119 others(18): Show |
p.His others(13): Show |
CBX4 | ENSG00000141582.15 | transcript | ENST00000269397.9 | protein_coding | 5/5 | 1389/2675 | 1192/1683 | 398/560 | chr17 | TogoVar | |||
CC2D2B_chr10_95902975_96038745 | 96025175 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(37): Show |
a0001a0005a0007others(7): Show | a0001c0001a0001c0007a0005c0006others(9): Show | a0001c0001t0001a0001c0007t0001a0005c0006t0001others(9): Show | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0016 others(37): Show |
40 | 298 | 0.1342 | -9 | c.394 others(26): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 33/34 | chr10 | TogoVar | |||||||
CCAR1_chr10_68716239_68797377 | 68750207 | CTTTTTTC others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(184): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(179): Show |
187 | 350 | 0.5343 | -9 | c.111 others(26): Show |
CCAR1 | ENSG00000060339.14 | transcript | ENST00000265872.11 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59601010 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01175.hp2 HG02109.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0215 a0001c0001t0002g0074 a0001c0001t0002g0078 others(6): Show |
9 | 50 | 0.1800 | -9 | c.212 others(28): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59616052 | ATGGGCGC others(2): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG02895.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0023a0001c0001t0029 | a0001c0001t0003g0176 a0001c0001t0023g0226 a0001c0001t0023g0227 others(1): Show |
4 | 240 | 0.0167 | -9 | c.212 others(28): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59658355 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG01515.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0061 | a0001c0001t0002g0223 a0001c0001t0006g0042 a0001c0001t0061g0056 |
3 | 193 | 0.0155 | -9 | c.212 others(28): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59694595 | CAGGATTC others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG02132.hp1 HG02165.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(8): Show |
11 | 240 | 0.0458 | -9 | c.212 others(26): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCDC102B_chr18_68793080_69060189 | 68956421 | TATATTAT others(2): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00621.hp1 others(71): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0007others(13): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(18): Show | a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0032 others(71): Show |
74 | 213 | 0.3474 | -9 | c.126 others(30): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC105_chr19_15005726_15028276 | 15010216 | AGAGAGAG others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0035 a0001c0001t0001g0160 a0001c0001t0001g0161 others(3): Show |
12 | 328 | 0.0366 | -9 | c.-60 others(18): Show |
CCDC105 | ENSG00000160994.4 | transcript | ENST00000292574.4 | protein_coding | 509 | chr19 | TogoVar | |||||||
CCDC106_chr19_55643212_55658161 | 55646095 | TTGAACTC others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02818.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0003g0010 |
5 | 410 | 0.0122 | -9 | c.-29 others(20): Show |
CCDC106 | ENSG00000173581.8 | transcript | ENST00000586790.6 | protein_coding | 2116 | chr19 | TogoVar | |||||||
CCDC110_chr4_185440182_185476733 | 185473139 | AAAAAAAA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG01975.hp1 HG02145.hp2 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0003others(7): Show | a0001c0001t0001g0275 a0001c0001t0001g0352 a0001c0001t0002g0276 others(11): Show |
16 | 422 | 0.0379 | -9 | c.-14 others(20): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 1407 | chr4 | TogoVar | |||||||
CCDC112_chr5_115262190_115301654 | 115298253 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01981.hp1 others(7): Show |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0018 a0001c0001t0001g0070 a0001c0001t0001g0083 others(5): Show |
10 | 14 | 0.7143 | -9 | c.-17 others(20): Show |
CCDC112 | ENSG00000164221.13 | transcript | ENST00000379611.10 | protein_coding | 1600 | chr5 | TogoVar | |||||||
CCDC113_chr16_58244936_58288836 | 58266405 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG01928.hp1 HG02602.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0020 others(10): Show |
14 | 308 | 0.0455 | -9 | c.784 others(26): Show |
CCDC113 | ENSG00000103021.10 | transcript | ENST00000219299.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CCDC116_chr22_21627760_21642329 | 21631820 | CGGTGGCT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(27): Show |
a0001a0008a0009others(5): Show | a0001c0001a0008c0008a0009c0010others(5): Show | a0001c0001t0001a0008c0008t0001a0009c0010t0001others(5): Show | a0001c0001t0001g0001 a0008c0008t0001g0004 a0008c0008t0001g0011 others(8): Show |
30 | 392 | 0.0765 | -9 | c.-10 others(20): Show |
CCDC116 | ENSG00000161180.11 | transcript | ENST00000292779.4 | protein_coding | 939 | chr22 | TogoVar | |||||||
CCDC122_chr13_43831352_43884740 | 43879809 | GGGGCGAG others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp2 others(42): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(7): Show | a0001c0001t0001g0008 a0001c0001t0001g0055 a0001c0001t0001g0144 others(33): Show |
45 | 394 | 0.1142 | -9 | c.-38 others(18): Show |
CCDC122 | ENSG00000151773.13 | transcript | ENST00000444614.8 | protein_coding | 70 | chr13 | TogoVar |