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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN3_chr14_92053552_92111582 | 92071010 | C | CCTGCTGC others(47): Show |
conservative_inframe_insertion | MODERATE | HG01069.hp2 HG01071.hp1 HG02965.hp1 others(1): Show |
a0020 | a0020c0022 | a0020c0022t0008a0020c0022t0011 | a0020c0022t0008g0134 a0020c0022t0008g0159 a0020c0022t0011g0117 others(1): Show |
4 | 105 | 0.0381 | 54 | c.915 others(61): Show |
p.Gln others(67): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/11 | 945/6884 | 915/1086 | 305/361 | chr14 | TogoVar | |||
ATXN3_chr14_92053552_92111582 | 92071010 | C | CCTGCTGC others(50): Show |
conservative_inframe_insertion | MODERATE | HG02055.hp2 HG02145.hp1 HG02280.hp2 others(6): Show |
a0014a0021 | a0014c0019a0021c0027 | a0014c0019t0008a0014c0019t0021a0021c0027t0006others(2): Show | a0014c0019t0008g0158 a0014c0019t0008g0160 a0014c0019t0008g0161 others(6): Show |
9 | 110 | 0.0818 | 57 | c.915 others(64): Show |
p.Gln others(70): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/11 | 945/6884 | 915/1086 | 305/361 | chr14 | TogoVar | |||
ATXN3_chr14_92053552_92111582 | 92071010 | C | CCTGCTGC others(53): Show |
conservative_inframe_insertion | MODERATE | HG01175.hp2 HG02451.hp2 HG02895.hp1 |
a0025a0038 | a0025c0035a0038c0062 | a0025c0035t0008a0025c0035t0049a0038c0062t0006 | a0025c0035t0008g0162 a0025c0035t0049g0196 a0038c0062t0006g0018 |
3 | 104 | 0.0288 | 60 | c.915 others(67): Show |
p.Gln others(73): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/11 | 945/6884 | 915/1086 | 305/361 | chr14 | TogoVar | |||
ATXN3_chr14_92053552_92111582 | 92071010 | C | CCTGCTGC others(56): Show |
conservative_inframe_insertion | MODERATE | HG02486.hp2 HG02896.hp2 |
a0036a0039 | a0036c0047a0039c0061 | a0036c0047t0021a0039c0061t0006 | a0036c0047t0021g0192 a0039c0061t0006g0360 |
2 | 103 | 0.0194 | 63 | c.915 others(70): Show |
p.Gln others(76): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/11 | 945/6884 | 915/1086 | 305/361 | chr14 | TogoVar | |||
ATXN3_chr14_92053552_92111582 | 92071010 | C | CCTGCTGC others(59): Show |
conservative_inframe_insertion | MODERATE | HG03225.hp1 | a0026 | a0026c0045 | a0026c0045t0021 | a0026c0045t0021g0191 | 1 | 102 | 0.0098 | 66 | c.915 others(73): Show |
p.Gln others(79): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/11 | 945/6884 | 915/1086 | 305/361 | chr14 | TogoVar | |||
B3GALT6_chr1_1227237_1240041 | 1232289 | T | TGCGGCGG others(8): Show |
conservative_inframe_insertion | MODERATE | HG02622.hp2 HG02895.hp2 HG02897.hp1 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0000 | 3 | 364 | 0.0082 | 15 | c.22_ others(20): Show |
p.Trp others(10): Show |
B3GALT6 | ENSG00000176022.7 | transcript | ENST00000379198.5 | protein_coding | 1/1 | 79/2805 | 37/990 | 13/329 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
BAIAP2L2_chr22_38079900_38115684 | 38087148 | T | TTCATGGG others(2): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 HG01071.hp1 NA19077.hp2 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0004 a0003c0003t0002g0017 a0003c0003t0002g0018 |
3 | 15 | 0.2000 | 9 | c.122 others(18): Show |
p.Thr others(13): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 11/14 | 1393/2149 | 1234/1590 | 412/529 | chr22 | TogoVar | |||
BAIAP2L2_chr22_38079900_38115684 | 38087148 | T | TTCATGGG others(11): Show |
conservative_inframe_insertion | MODERATE | NA20905.hp2 | a0008 | a0008c0005 | a0008c0005t0002 | a0008c0005t0002g0016 | 1 | 13 | 0.0769 | 18 | c.123 others(27): Show |
p.Met others(31): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 11/14 | 1393/2149 | 1234/1590 | 412/529 | chr22 | TogoVar | |||
BAIAP2L2_chr22_38079900_38115684 | 38087167 | A | ACATGGAG others(2): Show |
conservative_inframe_insertion | MODERATE | HG01081.hp1 HG01168.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0007 a0004c0004t0001g0013 |
2 | 16 | 0.1250 | 9 | c.120 others(18): Show |
p.Met others(22): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 11/14 | 1374/2149 | 1215/1590 | 405/529 | chr22 | TogoVar | |||
BATF3_chr1_212681417_212704840 | 212699677 | T | TGCTGCG | conservative_inframe_insertion | MODERATE | HG02895.hp1 HG02897.hp1 HG03041.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0065 a0003c0004t0001g0202 |
3 | 460 | 0.0065 | 6 | c.80_ others(11): Show |
p.Pro others(11): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 1/3 | 163/836 | 85/384 | 29/127 | chr1 | TogoVar | |||
BEGAIN_chr14_100532147_100592417 | 100538903 | T | TGGAAGCC others(5): Show |
conservative_inframe_insertion | MODERATE | NA18942.hp2 | a0005 | a0005c0014 | a0005c0014t0001 | a0005c0014t0001g0037 | 1 | 324 | 0.0031 | 12 | c.893 others(19): Show |
p.Pro others(13): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 7/7 | 1031/2788 | 904/1839 | 302/612 | chr14 | TogoVar | |||
BHLHE22_chr8_64575365_64588627 | 64581450 | T | TAGCGGC | conservative_inframe_insertion | MODERATE | HG01167.hp1 HG01175.hp1 HG01884.hp2 others(8): Show |
a0005a0007 | a0005c0005a0007c0007 | a0005c0005t0004a0007c0007t0004 | a0005c0005t0004g0000 a0007c0007t0004g0000 |
11 | 430 | 0.0256 | 6 | c.667 others(13): Show |
p.Ser others(13): Show |
BHLHE22 | ENSG00000180828.3 | transcript | ENST00000321870.3 | protein_coding | 1/1 | 1099/3263 | 673/1146 | 225/381 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||
BHLHE23_chr20_63000927_63011964 | 63006440 | C | CGCG | conservative_inframe_insertion | MODERATE | HG02886.hp2 NA18939.hp1 NA18992.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0000 | 3 | 444 | 0.0068 | 3 | c.332 others(10): Show |
p.Pro others(6): Show |
BHLHE23 | ENSG00000125533.6 | transcript | ENST00000612929.2 | protein_coding | 1/1 | 524/1038 | 334/726 | 112/241 | chr20 | TogoVar | |||
BHLHE41_chr12_26115030_26130037 | 26122638 | G | GGCCGCCG others(5): Show |
conservative_inframe_insertion | MODERATE | HG01978.hp1 HG01978.hp2 |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0016 | 2 | 420 | 0.0048 | 12 | c.865 others(19): Show |
p.Gly others(25): Show |
BHLHE41 | ENSG00000123095.6 | transcript | ENST00000242728.5 | protein_coding | 5/5 | 1134/3743 | 876/1449 | 292/482 | chr12 | TogoVar | |||
BOD1L1_chr4_13563738_13632725 | 13599332 | A | ATGC | conservative_inframe_insertion | MODERATE | HG01243.hp2 HG02723.hp1 HG02895.hp1 others(4): Show |
a0006a0022 | a0006c0007a0006c0015a0022c0029 | a0006c0007t0001a0006c0015t0001a0022c0029t0001 | a0006c0007t0001g0148 a0006c0007t0001g0149 a0006c0007t0001g0152 others(4): Show |
7 | 256 | 0.0273 | 3 | c.756 others(12): Show |
p.Ser others(7): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 10/26 | 7705/10567 | 7567/9156 | 2523/3051 | chr4 | TogoVar | |||
BPTF_chr17_67820503_67989378 | 67959642 | T | TCCTCCAG others(2): Show |
conservative_inframe_insertion | MODERATE | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(104): Show |
a0002a0004a0005others(4): Show | a0002c0002a0002c0006a0002c0014others(8): Show | a0002c0002t0002a0002c0002t0007a0002c0006t0002others(9): Show | a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0180 others(104): Show |
107 | 271 | 0.3948 | 9 | c.804 others(18): Show |
p.Ala others(15): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 24/28 | 8275/11075 | 8053/8763 | 2685/2920 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
BPTF_chr17_67820503_67989378 | 67959642 | T | TCCTCCAG others(11): Show |
conservative_inframe_insertion | MODERATE | NA20805.hp1 | a0014 | a0014c0018 | a0014c0018t0002 | a0014c0018t0002g0208 | 1 | 165 | 0.0061 | 18 | c.803 others(27): Show |
p.Ala others(15): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 24/28 | 8275/11075 | 8053/8763 | 2685/2920 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
BRD4_chr19_15230519_15337539 | 15243145 | G | GGCGGCTG others(8): Show |
conservative_inframe_insertion | MODERATE | HG02258.hp2 | a0010 | a0010c0027 | a0010c0027t0005 | a0010c0027t0005g0056 | 1 | 206 | 0.0049 | 15 | c.290 others(24): Show |
p.Leu others(13): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 14/20 | 3207/7231 | 2923/4089 | 975/1362 | chr19 | TogoVar | |||
BTBD2_chr19_1980448_2020714 | 2015418 | A | AGTTGTAC others(14): Show |
conservative_inframe_insertion | MODERATE | HG02074.hp2 | a0009 | a0009c0029 | a0009c0029t0002 | a0009c0029t0002g0112 | 1 | 362 | 0.0028 | 21 | c.265 others(28): Show |
p.Asn others(32): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 1/9 | 296/2629 | 285/1578 | 95/525 | chr19 | TogoVar | |||
BTN2A1_chr6_26452955_26474637 | 26458677 | C | CCCT | conservative_inframe_insertion | MODERATE | HG01884.hp1 HG02896.hp2 HG02897.hp2 others(2): Show |
a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0002 a0005c0009t0001g0030 |
5 | 418 | 0.0120 | 3 | c.58_ others(8): Show |
p.Leu others(5): Show |
BTN2A1 | ENSG00000112763.17 | transcript | ENST00000312541.10 | protein_coding | 2/8 | 279/2890 | 61/1584 | 21/527 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
C12orf56_chr12_64259762_64395758 | 64318766 | A | AGTT | conservative_inframe_insertion | MODERATE | HG00099.hp2 HG00408.hp1 HG00423.hp1 others(136): Show |
a0002a0003 | a0002c0002a0002c0005a0002c0009others(4): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0009others(14): Show | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(136): Show |
139 | 310 | 0.4484 | 3 | c.700 others(10): Show |
p.Asn others(6): Show |
C12orf56 | ENSG00000185306.13 | transcript | ENST00000543942.7 | protein_coding | 4/13 | 895/4483 | 702/1869 | 234/622 | chr12 | TogoVar | |||
C13orf46_chr13_113948705_113979076 | 113973867 | C | CCCAGACT others(29): Show |
conservative_inframe_insertion | MODERATE | NA19006.hp2 | a0007 | a0007c0005 | a0007c0005t0002 | a0007c0005t0002g0068 | 1 | 412 | 0.0024 | 36 | c.130 others(43): Show |
p.Leu others(47): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 1/7 | 209/3786 | 130/639 | 44/212 | chr13 | TogoVar | |||
C19orf33_chr19_38299251_38310006 | 38304910 | G | GAAGAAGG others(8): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp2 HG00558.hp2 HG00597.hp2 others(77): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 a0002c0002t0002g0003 |
80 | 404 | 0.1980 | 15 | c.289 others(22): Show |
p.Glu others(12): Show |
C19orf33 | ENSG00000167644.12 | transcript | ENST00000301246.10 | protein_coding | 4/4 | 315/374 | 304/321 | 102/106 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
C2orf81_chr2_74409177_74426619 | 74415138 | A | ACGCGGAG others(17): Show |
conservative_inframe_insertion | MODERATE | HG00408.hp1 HG00558.hp2 HG00597.hp2 others(101): Show |
a0002a0010a0012 | a0002c0003a0010c0009a0012c0007 | a0002c0003t0001a0010c0009t0001a0012c0007t0001 | a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0007 others(21): Show |
104 | 399 | 0.2607 | 24 | c.101 others(33): Show |
p.Ala others(37): Show |
C2orf81 | ENSG00000284308.2 | transcript | ENST00000684111.1 | protein_coding | 3/3 | 1097/2059 | 1038/1848 | 346/615 | chr2 | TogoVar | |||
C2orf81_chr2_74409177_74426619 | 74415138 | A | ACGCGGAG others(41): Show |
conservative_inframe_insertion | MODERATE | NA18952.hp1 | a0011 | a0011c0008 | a0011c0008t0001 | a0011c0008t0001g0072 | 1 | 296 | 0.0034 | 48 | c.103 others(57): Show |
p.Ala others(61): Show |
C2orf81 | ENSG00000284308.2 | transcript | ENST00000684111.1 | protein_coding | 3/3 | 1097/2059 | 1038/1848 | 346/615 | chr2 | TogoVar | |||
C6orf118_chr6_165274664_165314605 | 165302195 | T | TCTTCAGA others(77): Show |
conservative_inframe_insertion | MODERATE | HG03130.hp1 | a0011 | a0011c0022 | a0011c0022t0001 | a0011c0022t0001g0098 | 1 | 358 | 0.0028 | 84 | c.43_ others(90): Show |
p.Lys others(95): Show |
C6orf118 | ENSG00000112539.15 | transcript | ENST00000230301.9 | protein_coding | 2/9 | 145/1822 | 126/1410 | 42/469 | chr6 | TogoVar | |||
CACNA1A_chr19_13201442_13511479 | 13207858 | C | CCTG | conservative_inframe_insertion | MODERATE | HG00423.hp1 HG00423.hp2 HG01496.hp1 others(9): Show |
a0006a0012a0027others(1): Show | a0006c0009a0006c0075a0006c0100others(5): Show | a0006c0009t0002a0006c0009t0005a0006c0009t0017others(7): Show | a0006c0009t0002g0032 a0006c0009t0002g0055 a0006c0009t0005g0153 others(9): Show |
12 | 70 | 0.1714 | 3 | c.697 others(12): Show |
p.Gln others(7): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 7230/8647 | 6975/7521 | 2325/2506 | chr19 | TogoVar | |||
CACNA1A_chr19_13201442_13511479 | 13207858 | C | CCTGCTGC others(5): Show |
conservative_inframe_insertion | MODERATE | NA18964.hp2 | a0038 | a0038c0062 | a0038c0062t0002 | a0038c0062t0002g0124 | 1 | 59 | 0.0169 | 12 | c.696 others(21): Show |
p.Gln others(15): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 7230/8647 | 6975/7521 | 2325/2506 | chr19 | TogoVar | |||
CACNA1A_chr19_13201442_13511479 | 13207858 | C | CCTGCTGC others(8): Show |
conservative_inframe_insertion | MODERATE | NA19012.hp2 | a0043 | a0043c0061 | a0043c0061t0002 | a0043c0061t0002g0106 | 1 | 59 | 0.0169 | 15 | c.696 others(24): Show |
p.Gln others(15): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 7230/8647 | 6975/7521 | 2325/2506 | chr19 | TogoVar | |||
CAMSAP1_chr9_135803487_135912546 | 135823075 | A | AGGCTCTT others(5): Show |
conservative_inframe_insertion | MODERATE | HG03225.hp2 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0100 | 1 | 338 | 0.0030 | 12 | c.157 others(21): Show |
p.His others(13): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 11/17 | 1972/8018 | 1585/4809 | 529/1602 | chr9 | TogoVar | |||
CARD10_chr22_37485362_37524415 | 37510301 | G | GCTCCTT | conservative_inframe_insertion | MODERATE | HG00642.hp1 HG02451.hp1 HG02965.hp2 others(2): Show |
a0004 | a0004c0015a0004c0030a0004c0031 | a0004c0015t0001a0004c0015t0008a0004c0030t0001others(1): Show | a0004c0015t0001g0094 a0004c0015t0001g0108 a0004c0015t0008g0130 others(2): Show |
5 | 169 | 0.0296 | 6 | c.814 others(13): Show |
p.Glu others(19): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 4/20 | 1034/4111 | 819/3099 | 273/1032 | chr22 | TogoVar | |||
CASP10_chr2_201178141_201226665 | 201217635 | G | GTCGAAGA others(38): Show |
conservative_inframe_insertion | MODERATE | HG01884.hp1 | a0004 | a0004c0013 | a0004c0013t0016 | a0004c0013t0016g0173 | 1 | 320 | 0.0031 | 45 | c.146 others(54): Show |
p.Arg others(13): Show |
CASP10 | ENSG00000003400.16 | transcript | ENST00000286186.11 | protein_coding | 10/10 | 1685/5668 | 1510/1569 | 504/522 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
CASP7_chr10_113674912_113735905 | 113729503 | T | TCTCCATG others(11): Show |
conservative_inframe_insertion | MODERATE | HG03139.hp1 | a0006 | a0006c0009 | a0006c0009t0003 | a0006c0009t0003g0201 | 1 | 404 | 0.0025 | 18 | c.885 others(25): Show |
p.Leu others(31): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 7/7 | 953/2344 | 886/912 | 296/303 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
CATSPERB_chr14_91575698_91737086 | 91610670 | G | GTTGAACC others(188): Show |
stop_gained others(1): Show |
HIGH | HG01081.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0048 | 1 | 270 | 0.0037 | 195 | c.240 others(208): Show |
p.Ser others(208): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 21/27 | 2564/3699 | 2407/3351 | 803/1116 | chr14 | TogoVar | |||
CAVIN1_chr17_42397449_42428256 | 42405289 | G | GCTCGCCC others(11): Show |
conservative_inframe_insertion | MODERATE | HG02723.hp1 | a0003 | a0003c0011 | a0003c0011t0006 | a0003c0011t0006g0090 | 1 | 336 | 0.0030 | 18 | c.553 others(25): Show |
p.Glu others(31): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 2/2 | 729/3570 | 570/1173 | 190/390 | chr17 | TogoVar | |||
CBX4_chr17_79828156_79844440 | 79834441 | C | CGTG | conservative_inframe_insertion | MODERATE | HG00140.hp2 HG00735.hp2 HG01069.hp2 others(14): Show |
a0004a0007a0008 | a0004c0004a0007c0014a0008c0013 | a0004c0004t0001a0004c0004t0002a0007c0014t0001others(1): Show | a0004c0004t0001g0038 a0004c0004t0001g0058 a0004c0004t0001g0107 others(8): Show |
17 | 414 | 0.0411 | 3 | c.119 others(12): Show |
p.His others(6): Show |
CBX4 | ENSG00000141582.15 | transcript | ENST00000269397.9 | protein_coding | 5/5 | 1389/2675 | 1200/1683 | 400/560 | chr17 | TogoVar | |||
CCDC157_chr22_30352007_30383673 | 30376487 | C | CCAGCCCT others(17): Show |
conservative_inframe_insertion | MODERATE | HG01175.hp2 HG02055.hp2 HG02451.hp1 others(2): Show |
a0007a0011a0015 | a0007c0010a0011c0023a0015c0021 | a0007c0010t0004a0011c0023t0003a0015c0021t0001 | a0007c0010t0004g0003 a0011c0023t0003g0192 a0015c0021t0001g0204 |
5 | 431 | 0.0116 | 24 | c.206 others(33): Show |
p.Pro others(13): Show |
CCDC157 | ENSG00000187860.11 | transcript | ENST00000338306.8 | protein_coding | 12/12 | 2383/4478 | 2092/2259 | 698/752 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
CCDC180_chr9_97302659_97383751 | 97330686 | A | AGAGGAG | conservative_inframe_insertion | MODERATE | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(248): Show |
a0001a0003a0004others(8): Show | a0001c0002a0001c0003a0001c0004others(23): Show | a0001c0002t0002a0001c0002t0009a0001c0002t0016others(39): Show | a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0004 others(216): Show |
251 | 362 | 0.6934 | 6 | c.220 others(15): Show |
p.Glu others(13): Show |
CCDC180 | ENSG00000197816.16 | transcript | ENST00000529487.3 | protein_coding | 18/37 | 2438/7060 | 2209/4974 | 737/1657 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CCDC66_chr3_56552175_56626837 | 56616023 | A | ACTT | conservative_inframe_insertion | MODERATE | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(166): Show |
a0001a0003a0009 | a0001c0001a0001c0005a0001c0016others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 others(124): Show |
169 | 370 | 0.4568 | 3 | c.181 others(12): Show |
p.Ser others(6): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 13/18 | 1887/3134 | 1819/2847 | 607/948 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
CCDC66_chr3_56552175_56626837 | 56616026 | T | TCTC | conservative_inframe_insertion | MODERATE | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(137): Show |
a0001a0002a0004others(4): Show | a0001c0008a0002c0002a0002c0014others(14): Show | a0001c0008t0002a0001c0008t0003a0002c0002t0001others(22): Show | a0001c0008t0002g0271 a0001c0008t0003g0022 a0001c0008t0003g0100 others(112): Show |
140 | 370 | 0.3784 | 3 | c.181 others(12): Show |
p.Ser others(16): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 13/18 | 1887/3134 | 1819/2847 | 607/948 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
CD209_chr19_7734993_7752534 | 7745535 | T | TGGGTCAG others(62): Show |
conservative_inframe_insertion | MODERATE | NA18971.hp1 | a0014 | a0014c0017 | a0014c0017t0003 | a0014c0017t0003g0079 | 1 | 451 | 0.0022 | 69 | c.662 others(76): Show |
p.Arg others(13): Show |
CD209 | ENSG00000090659.18 | transcript | ENST00000315599.12 | protein_coding | 4/7 | 753/4284 | 730/1215 | 244/404 | chr19 | TogoVar | |||
CD209_chr19_7734993_7752534 | 7745535 | T | TGGGTCAG others(131): Show |
conservative_inframe_insertion | MODERATE | HG02258.hp2 | a0007 | a0007c0018 | a0007c0018t0051 | a0007c0018t0051g0080 | 1 | 451 | 0.0022 | 138 | c.593 others(145): Show |
p.Arg others(13): Show |
CD209 | ENSG00000090659.18 | transcript | ENST00000315599.12 | protein_coding | 4/7 | 753/4284 | 730/1215 | 244/404 | chr19 | TogoVar | |||
CD55_chr1_207316678_207365966 | 207321864 | G | GCTCGCAA others(5): Show |
conservative_inframe_insertion others(1): Show |
MODERATE | NA19083.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0205 | 1 | 354 | 0.0028 | 12 | c.99_ others(18): Show |
p.Trp others(23): Show |
CD55 | ENSG00000196352.18 | transcript | ENST00000367064.9 | protein_coding | 1/10 | 188/2590 | 100/1146 | 34/381 | chr1 | TogoVar | |||
CDHR5_chr11_611583_629955 | 617406 | G | GCGCCCT | conservative_inframe_insertion | MODERATE | HG01884.hp2 HG02486.hp1 HG02647.hp1 others(3): Show |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0027 a0006c0008t0001g0039 a0006c0008t0001g0078 |
6 | 407 | 0.0147 | 6 | c.247 others(15): Show |
p.Glu others(13): Show |
CDHR5 | ENSG00000099834.19 | transcript | ENST00000397542.7 | protein_coding | 15/15 | 2535/3359 | 2482/2538 | 828/845 | chr11 | TogoVar | |||
CDK11A_chr1_1697379_1729357 | 1712288 | T | TGCGCCGC others(5): Show |
conservative_inframe_insertion | MODERATE | HG01884.hp1 HG03225.hp2 |
a0010 | a0010c0013 | a0010c0013t0002 | a0010c0013t0002g0177 a0010c0013t0002g0208 |
2 | 370 | 0.0054 | 12 | c.589 others(19): Show |
p.Arg others(25): Show |
CDK11A | ENSG00000008128.23 | transcript | ENST00000404249.8 | protein_coding | 6/20 | 713/2984 | 600/2343 | 200/780 | chr1 | TogoVar | |||
CDK13_chr7_39945256_40104580 | 39951382 | G | GAGCGGC | conservative_inframe_insertion | MODERATE | NA18945.hp2 NA18974.hp1 NA19056.hp2 |
a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0085 a0004c0007t0001g0086 a0004c0007t0001g0087 |
3 | 320 | 0.0094 | 6 | c.745 others(13): Show |
p.Gly others(13): Show |
CDK13 | ENSG00000065883.18 | transcript | ENST00000181839.10 | protein_coding | 1/14 | 1137/9525 | 751/4539 | 251/1512 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
CEACAM21_chr19_41571166_41591844 | 41577387 | A | AGAC | conservative_inframe_insertion | MODERATE | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(88): Show |
a0003 | a0003c0002a0003c0006a0003c0013others(1): Show | a0003c0002t0001a0003c0002t0006a0003c0006t0002others(2): Show | a0003c0002t0001g0002 a0003c0002t0001g0005 a0003c0002t0001g0010 others(16): Show |
91 | 392 | 0.2321 | 3 | c.253 others(10): Show |
p.Asp others(5): Show |
CEACAM21 | ENSG00000007129.18 | transcript | ENST00000401445.4 | protein_coding | 2/7 | 365/1372 | 256/882 | 86/293 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
CEBPA_chr19_33294934_33307534 | 33301825 | G | GGCGGGT | conservative_inframe_insertion | MODERATE | HG00280.hp1 HG00558.hp1 HG01069.hp2 others(42): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0001 | a0002c0002t0001g0000 a0002c0006t0001g0000 |
45 | 446 | 0.1009 | 6 | c.584 others(13): Show |
p.His others(13): Show |
CEBPA | ENSG00000245848.3 | transcript | ENST00000498907.3 | protein_coding | 1/1 | 709/2601 | 589/1077 | 197/358 | chr19 | TogoVar | |||
CEBPA_chr19_33294934_33307534 | 33301825 | G | GGCGGGTG others(5): Show |
conservative_inframe_insertion | MODERATE | NA19081.hp2 | a0007 | a0007c0005 | a0007c0005t0001 | a0007c0005t0001g0000 | 1 | 402 | 0.0025 | 12 | c.578 others(19): Show |
p.His others(13): Show |
CEBPA | ENSG00000245848.3 | transcript | ENST00000498907.3 | protein_coding | 1/1 | 709/2601 | 589/1077 | 197/358 | chr19 | TogoVar | |||
CEL_chr9_133056981_133076861 | 133071273 | C | CCCCCCGT others(20495): Show |
stop_gained others(1): Show |
HIGH | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 413 | 0.0024 | 20502 | c.187 others(20511): Show |
p.Pro others(20515): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1898/2381 | 1876/2262 | 626/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |