regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CBR4_chr4_168982590_169015255 | 169002212 | CA | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(75): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0002a0002c0002t0003others(9): Show | a0001c0001t0009g0074a0001c0001t0009g0125a0002c0002t0002g0017others(49): Show | 78 | 284 | 0.2747 | -1 | c.401 others(6): Show |
CBR4 | ENSG00000145439.12 | transcript | ENST00000306193.8 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
CBR4_chr4_168982590_169015255 | 169002212 | CAAA | C | splice_region_variant others(1): Show |
LOW | HG00597.hp2 HG00621.hp1 HG01099.hp1 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0027a0001c0001t0001g0028others(29): Show | 57 | 284 | 0.2007 | -3 | c.401 others(15): Show |
CBR4 | ENSG00000145439.12 | transcript | ENST00000306193.8 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
CBR4_chr4_168982590_169015255 | 169002212 | CAAAA | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(114): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(61): Show | 117 | 284 | 0.4120 | -4 | c.401 others(16): Show |
CBR4 | ENSG00000145439.12 | transcript | ENST00000306193.8 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
CBR4_chr4_168982590_169015255 | 169002212 | CAAAAAAA others(7): Show |
C | splice_region_variant others(1): Show |
LOW | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0041 | 1 | 284 | 0.0035 | -14 | c.401 others(26): Show |
CBR4 | ENSG00000145439.12 | transcript | ENST00000306193.8 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
CBS_chr21_43048191_43080835 | 43060434 | G | A | splice_region_variant others(1): Show |
LOW | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043 | 1 | 298 | 0.0034 | 0 | c.114 others(6): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 12/16 | chr21 | TogoVar | ||||||
CBS_chr21_43048191_43080835 | 43062945 | C | T | splice_region_variant others(1): Show |
LOW | HG01243.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0113 | 1 | 298 | 0.0034 | 0 | c.954 others(5): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 10/16 | chr21 | TogoVar | ||||||
CBX1_chr17_48065059_48106478 | 48074998 | C | T | splice_region_variant others(1): Show |
LOW | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 396 | 0.0025 | 0 | c.413 others(5): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 4/4 | chr17 | TogoVar | ||||||
CBX7_chr22_39125772_39157680 | 39149783 | G | A | splice_region_variant others(1): Show |
LOW | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0157 | 1 | 380 | 0.0026 | 0 | c.113 others(5): Show |
CBX7 | ENSG00000100307.13 | transcript | ENST00000216133.10 | protein_coding | 2/5 | chr22 | TogoVar | ||||||
CBY2_chr13_45697320_45719559 | 45702473 | T | G | splice_region_variant others(1): Show |
LOW | HG01106.hp1 HG01255.hp1 HG01257.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0022a0001c0001t0001g0040a0001c0001t0001g0041others(1): Show | 6 | 440 | 0.0136 | 0 | c.75+ others(4): Show |
CBY2 | ENSG00000174015.10 | transcript | ENST00000310521.6 | protein_coding | 1/2 | chr13 | TogoVar | ||||||
CBY2_chr13_45697320_45719559 | 45702777 | C | T | splice_region_variant others(1): Show |
LOW | HG03017.hp1 HG03239.hp1 HG03490.hp1 others(3): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0006a0001c0006t0001g0080 | 6 | 440 | 0.0136 | 0 | c.78C others(2): Show |
p.His others(5): Show |
CBY2 | ENSG00000174015.10 | transcript | ENST00000310521.6 | protein_coding | 2/3 | 149/1605 | 78/1347 | 26/448 | chr13 | TogoVar | ||
CC2D1A_chr19_13901201_13935879 | 13923614 | C | A | splice_region_variant others(1): Show |
LOW | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 370 | 0.0027 | 0 | c.182 others(6): Show |
CC2D1A | ENSG00000132024.18 | transcript | ENST00000318003.11 | protein_coding | 16/28 | chr19 | TogoVar | ||||||
CC2D1A_chr19_13901201_13935879 | 13923690 | G | A | splice_region_variant others(1): Show |
LOW | NA18970.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0223 | 1 | 370 | 0.0027 | 0 | c.182 others(6): Show |
CC2D1A | ENSG00000132024.18 | transcript | ENST00000318003.11 | protein_coding | 16/28 | chr19 | TogoVar | ||||||
CC2D1B_chr1_52345597_52371205 | 52364552 | C | T | splice_region_variant others(1): Show |
LOW | HG02055.hp2 HG02615.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0002a0001c0004t0006a0001c0004t0011 | a0001c0004t0002g0023a0001c0004t0006g0024a0001c0004t0006g0062others(1): Show | 6 | 322 | 0.0186 | 0 | c.69G others(2): Show |
p.Gln others(5): Show |
CC2D1B | ENSG00000154222.15 | transcript | ENST00000284376.8 | protein_coding | 2/25 | 220/5338 | 69/2559 | 23/852 | chr1 | TogoVar | ||
CC2D2A_chr4_15464882_15606552 | 15480698 | C | T | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00438.hp1 HG00558.hp2 others(86): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0004a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(15): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(85): Show | 89 | 344 | 0.2587 | 0 | c.124 others(5): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 3/36 | chr4 | TogoVar | ||||||
CC2D2A_chr4_15464882_15606552 | 15567369 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(216): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(213): Show | 219 | 344 | 0.6366 | 0 | c.318 others(6): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 24/36 | chr4 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95924389 | A | C | missense_variant others(1): Show |
MODERATE | HG02280.hp1 | a0031 | a0031c0039 | a0031c0039t0001 | a0031c0039t0001g0002 | 1 | 312 | 0.0032 | 0 | c.173 others(3): Show |
p.Lys others(5): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 4/35 | 279/6157 | 173/4314 | 58/1437 | chr10 | TogoVar | ||
CC2D2B_chr10_95902975_96038745 | 95955376 | C | CT | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(43): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0007a0001c0027others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0006a0001c0001t0001g0013a0001c0001t0001g0015others(43): Show | 46 | 312 | 0.1474 | 1 | c.101 others(7): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CC2D2B_chr10_95902975_96038745 | 95988344 | TAAC | T | splice_region_variant others(1): Show |
LOW | HG01081.hp1 HG01243.hp1 HG01884.hp2 others(8): Show |
a0001a0003a0010others(2): Show | a0001c0001a0003c0003a0010c0011others(3): Show | a0001c0001t0002a0003c0003t0002a0010c0011t0002others(3): Show | a0001c0001t0002g0003a0001c0001t0002g0272a0001c0001t0002g0273others(8): Show | 11 | 312 | 0.0353 | -3 | c.237 others(16): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCAR1_chr10_68716239_68797377 | 68747145 | C | CT | splice_region_variant others(1): Show |
LOW | HG00741.hp1 HG01069.hp1 HG01071.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0014others(36): Show | 40 | 360 | 0.1111 | 1 | c.519 others(6): Show |
CCAR1 | ENSG00000060339.14 | transcript | ENST00000265872.11 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCAR1_chr10_68716239_68797377 | 68788131 | TTTATA | T | splice_acceptor_variant others(2): Show |
HIGH | HG01123.hp2 HG01256.hp1 HG01257.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0023others(3): Show | 6 | 360 | 0.0167 | -5 | c.300 others(18): Show |
CCAR1 | ENSG00000060339.14 | transcript | ENST00000265872.11 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCAR2_chr8_22599757_22625471 | 22606184 | C | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(165): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0196a0001c0001t0003g0042a0001c0001t0003g0043others(116): Show | 168 | 376 | 0.4468 | 0 | c.150 others(5): Show |
CCAR2 | ENSG00000158941.17 | transcript | ENST00000308511.9 | protein_coding | 3/20 | chr8 | TogoVar | ||||||
CCAR2_chr8_22599757_22625471 | 22606608 | G | A | missense_variant others(1): Show |
MODERATE | HG02155.hp2 | a0004 | a0004c0012 | a0004c0012t0001 | a0004c0012t0001g0011 | 1 | 376 | 0.0027 | 0 | c.152 others(3): Show |
p.Gly others(5): Show |
CCAR2 | ENSG00000158941.17 | transcript | ENST00000308511.9 | protein_coding | 4/21 | 276/3685 | 152/2772 | 51/923 | chr8 | TogoVar | ||
CCAR2_chr8_22599757_22625471 | 22614831 | C | T | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00621.hp1 HG00733.hp1 others(42): Show |
a0001a0005 | a0001c0003a0001c0004a0001c0008others(4): Show | a0001c0003t0005a0001c0003t0006a0001c0003t0015others(10): Show | a0001c0003t0005g0040a0001c0003t0006g0041a0001c0003t0006g0193others(35): Show | 45 | 376 | 0.1197 | 0 | c.104 others(6): Show |
CCAR2 | ENSG00000158941.17 | transcript | ENST00000308511.9 | protein_coding | 10/20 | chr8 | TogoVar | ||||||
CCAR2_chr8_22599757_22625471 | 22616007 | A | G | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00621.hp1 HG00733.hp1 others(56): Show |
a0001a0002a0005 | a0001c0003a0001c0004a0001c0008others(6): Show | a0001c0003t0005a0001c0003t0006a0001c0003t0015others(13): Show | a0001c0003t0005g0040a0001c0003t0006g0041a0001c0003t0006g0193others(44): Show | 59 | 376 | 0.1569 | 0 | c.160 others(6): Show |
CCAR2 | ENSG00000158941.17 | transcript | ENST00000308511.9 | protein_coding | 13/20 | chr8 | TogoVar | ||||||
CCAR2_chr8_22599757_22625471 | 22618341 | C | T | splice_region_variant others(1): Show |
LOW | HG03471.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0209 | 1 | 376 | 0.0027 | 0 | c.207 others(6): Show |
CCAR2 | ENSG00000158941.17 | transcript | ENST00000308511.9 | protein_coding | 16/20 | chr8 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59454846 | C | G | splice_region_variant others(1): Show |
LOW | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0070 | 1 | 242 | 0.0041 | 0 | c.654 others(5): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 6/10 | chr18 | TogoVar | ||||||
CCDC102A_chr16_57507181_57541571 | 57515448 | T | A | splice_region_variant others(1): Show |
LOW | NA18961.hp2 | a0010 | a0010c0019 | a0010c0019t0001 | a0010c0019t0001g0082 | 1 | 416 | 0.0024 | 0 | c.142 others(6): Show |
CCDC102A | ENSG00000135736.6 | transcript | ENST00000258214.3 | protein_coding | 7/8 | chr16 | TogoVar | ||||||
CCDC102A_chr16_57507181_57541571 | 57515450 | G | A | splice_region_variant others(1): Show |
LOW | NA18961.hp2 | a0010 | a0010c0019 | a0010c0019t0001 | a0010c0019t0001g0082 | 1 | 416 | 0.0024 | 0 | c.142 others(6): Show |
CCDC102A | ENSG00000135736.6 | transcript | ENST00000258214.3 | protein_coding | 7/8 | chr16 | TogoVar | ||||||
CCDC102A_chr16_57507181_57541571 | 57515451 | G | A | splice_region_variant others(1): Show |
LOW | NA18965.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102a0001c0001t0001g0129 | 2 | 416 | 0.0048 | 0 | c.142 others(6): Show |
CCDC102A | ENSG00000135736.6 | transcript | ENST00000258214.3 | protein_coding | 7/8 | chr16 | TogoVar | ||||||
CCDC102A_chr16_57507181_57541571 | 57521179 | G | T | splice_region_variant others(1): Show |
LOW | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0294 | 1 | 416 | 0.0024 | 0 | c.813 others(5): Show |
CCDC102A | ENSG00000135736.6 | transcript | ENST00000258214.3 | protein_coding | 3/8 | chr16 | TogoVar | ||||||
CCDC102A_chr16_57507181_57541571 | 57525893 | C | T | splice_region_variant others(1): Show |
LOW | HG02451.hp2 HG02647.hp2 HG02818.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0012a0001c0003t0003 | a0001c0001t0012g0269a0001c0003t0003g0043a0001c0003t0003g0045others(2): Show | 7 | 416 | 0.0168 | 0 | c.812 others(5): Show |
CCDC102A | ENSG00000135736.6 | transcript | ENST00000258214.3 | protein_coding | 3/8 | chr16 | TogoVar | ||||||
CCDC102A_chr16_57507181_57541571 | 57526131 | C | T | splice_region_variant others(1): Show |
LOW | NA18522.hp1 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0283 | 1 | 416 | 0.0024 | 0 | c.586 others(5): Show |
CCDC102A | ENSG00000135736.6 | transcript | ENST00000258214.3 | protein_coding | 2/8 | chr16 | TogoVar | ||||||
CCDC102A_chr16_57507181_57541571 | 57536492 | C | A | splice_region_variant others(1): Show |
LOW | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0318 | 1 | 416 | 0.0024 | 0 | c.-14 others(6): Show |
CCDC102A | ENSG00000135736.6 | transcript | ENST00000258214.3 | protein_coding | 1/8 | chr16 | TogoVar | ||||||
CCDC102B_chr18_68793080_69060189 | 68846425 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(125): Show |
a0001a0003a0004others(15): Show | a0001c0001a0001c0003a0001c0007others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0038others(124): Show | 128 | 216 | 0.5926 | 0 | c.936 others(5): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 4/7 | chr18 | TogoVar | ||||||
CCDC103_chr17_44894729_44910390 | 44901658 | T | C | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00733.hp2 HG01070.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0019 | a0001c0001t0005g0006a0001c0001t0019g0023 | 19 | 426 | 0.0446 | 0 | c.276 others(5): Show |
CCDC103 | ENSG00000167131.17 | transcript | ENST00000417826.3 | protein_coding | 3/3 | chr17 | TogoVar | ||||||
CCDC106_chr19_55643212_55658161 | 55649200 | T | G | splice_region_variant others(1): Show |
LOW | HG00735.hp2 HG01168.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 3 | 412 | 0.0073 | 0 | c.32- others(4): Show |
CCDC106 | ENSG00000173581.8 | transcript | ENST00000586790.6 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
CCDC110_chr4_185440182_185476733 | 185460238 | G | C | missense_variant others(1): Show |
MODERATE | HG03453.hp1 | a0009 | a0009c0021 | a0009c0021t0002 | a0009c0021t0002g0375 | 1 | 428 | 0.0023 | 0 | c.349 others(3): Show |
p.Pro others(6): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 6/7 | 399/2872 | 349/2502 | 117/833 | chr4 | TogoVar | ||
CCDC110_chr4_185440182_185476733 | 185463049 | T | G | missense_variant others(1): Show |
MODERATE | HG02109.hp2 HG02622.hp2 HG03225.hp1 |
a0005 | a0005c0010 | a0005c0010t0001a0005c0010t0003 | a0005c0010t0001g0281a0005c0010t0001g0364a0005c0010t0003g0286 | 3 | 428 | 0.0070 | 0 | c.116 others(3): Show |
p.Glu others(5): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 3/7 | 166/2872 | 116/2502 | 39/833 | chr4 | TogoVar | ||
CCDC112_chr5_115262190_115301654 | 115276959 | A | C | splice_region_variant others(1): Show |
LOW | HG01496.hp1 | a0001 | a0001c0010 | a0001c0010t0003 | a0001c0010t0003g0119 | 1 | 388 | 0.0026 | 0 | c.451 others(5): Show |
CCDC112 | ENSG00000164221.13 | transcript | ENST00000379611.10 | protein_coding | 4/9 | chr5 | TogoVar | ||||||
CCDC112_chr5_115262190_115301654 | 115279772 | T | C | splice_region_variant others(1): Show |
LOW | HG02055.hp1 HG02615.hp2 HG02809.hp2 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0013a0001c0003t0001g0020a0001c0003t0001g0093others(1): Show | 9 | 388 | 0.0232 | 0 | c.240 others(5): Show |
CCDC112 | ENSG00000164221.13 | transcript | ENST00000379611.10 | protein_coding | 2/9 | chr5 | TogoVar | ||||||
CCDC113_chr16_58244936_58288836 | 58259941 | G | T | splice_region_variant others(1): Show |
LOW | HG02280.hp2 | a0003 | a0003c0003 | a0003c0003t0012 | a0003c0003t0012g0056 | 1 | 378 | 0.0027 | 0 | c.627 others(5): Show |
CCDC113 | ENSG00000103021.10 | transcript | ENST00000219299.8 | protein_coding | 5/8 | chr16 | TogoVar | ||||||
CCDC113_chr16_58244936_58288836 | 58267481 | C | G | missense_variant others(1): Show |
MODERATE | HG02280.hp2 HG02809.hp1 HG02886.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0012a0003c0003t0035 | a0003c0003t0012g0025a0003c0003t0012g0056a0003c0003t0012g0197others(1): Show | 4 | 378 | 0.0106 | 0 | c.786 others(3): Show |
p.Ser others(6): Show |
CCDC113 | ENSG00000103021.10 | transcript | ENST00000219299.8 | protein_coding | 7/9 | 865/5272 | 786/1134 | 262/377 | chr16 | TogoVar | ||
CCDC113_chr16_58244936_58288836 | 58279674 | C | CT | splice_region_variant others(1): Show |
LOW | HG01192.hp1 HG01192.hp2 HG01261.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0294a0001c0001t0005g0006a0001c0001t0005g0107others(3): Show | 7 | 378 | 0.0185 | 1 | c.104 others(7): Show |
CCDC113 | ENSG00000103021.10 | transcript | ENST00000219299.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CCDC113_chr16_58244936_58288836 | 58279674 | CT | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(180): Show |
a0001 | a0001c0001a0001c0006a0001c0007 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(17): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(175): Show | 183 | 378 | 0.4841 | -1 | c.104 others(7): Show |
CCDC113 | ENSG00000103021.10 | transcript | ENST00000219299.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CCDC116_chr22_21627760_21642329 | 21633258 | G | A | splice_region_variant others(1): Show |
LOW | HG02523.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0012 | 1 | 394 | 0.0025 | 0 | c.72+ others(4): Show |
CCDC116 | ENSG00000161180.11 | transcript | ENST00000292779.4 | protein_coding | 2/4 | chr22 | TogoVar | ||||||
CCDC116_chr22_21627760_21642329 | 21634014 | C | T | splice_region_variant others(1): Show |
LOW | HG03098.hp2 HG03139.hp1 |
a0015 | a0015c0015 | a0015c0015t0001 | a0015c0015t0001g0013a0015c0015t0001g0021 | 2 | 394 | 0.0051 | 0 | c.73- others(4): Show |
CCDC116 | ENSG00000161180.11 | transcript | ENST00000292779.4 | protein_coding | 2/4 | chr22 | TogoVar | ||||||
CCDC116_chr22_21627760_21642329 | 21634576 | A | G | splice_region_variant others(1): Show |
LOW | HG03139.hp1 | a0015 | a0015c0015 | a0015c0015t0001 | a0015c0015t0001g0021 | 1 | 394 | 0.0025 | 0 | c.621 others(5): Show |
CCDC116 | ENSG00000161180.11 | transcript | ENST00000292779.4 | protein_coding | 3/4 | chr22 | TogoVar | ||||||
CCDC117_chr22_28767695_28794295 | 28786082 | G | C | splice_region_variant others(1): Show |
LOW | HG01257.hp2 HG01361.hp1 HG01433.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0022a0001c0001t0005g0025a0001c0001t0005g0106others(2): Show | 10 | 418 | 0.0239 | 0 | c.603 others(5): Show |
CCDC117 | ENSG00000159873.10 | transcript | ENST00000249064.9 | protein_coding | 4/4 | chr22 | TogoVar | ||||||
CCDC122_chr13_43831352_43884740 | 43837427 | T | C | splice_region_variant others(1): Show |
LOW | HG00673.hp2 HG00741.hp1 HG01069.hp1 others(35): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0014a0001c0002t0016others(4): Show | a0001c0002t0005g0004a0001c0002t0005g0027a0001c0002t0005g0058others(21): Show | 38 | 442 | 0.0860 | 0 | c.675 others(3): Show |
p.Val others(6): Show |
CCDC122 | ENSG00000151773.13 | transcript | ENST00000444614.8 | protein_coding | 7/7 | 984/2059 | 675/822 | 225/273 | chr13 | TogoVar | ||
CCDC124_chr19_17928015_17948985 | 17933052 | G | C | splice_region_variant others(1): Show |
LOW | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056 | 1 | 420 | 0.0024 | 0 | c.-12 others(5): Show |
CCDC124 | ENSG00000007080.11 | transcript | ENST00000445755.7 | protein_coding | 1/4 | chr19 | TogoVar |