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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CBL_chr11_119201339_119313149 | 119288476 | CAGAGAG | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(131): Show |
a0001a0006a0008others(1): Show | a0001c0001a0006c0010a0008c0012others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(16): Show | a0001c0001t0001g0010 a0001c0001t0001g0123 a0001c0001t0001g0129 others(131): Show |
134 | 364 | 0.3681 | -6 | c.203 others(23): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBR3_chr21_36130079_36151562 | 36133766 | TAAAAAA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(111): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0035 others(79): Show |
114 | 424 | 0.2689 | -6 | c.-14 others(17): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 1312 | chr21 | TogoVar | |||||||
CBR3_chr21_36130079_36151562 | 36137027 | CAAAAAA | C | intron_variant | MODIFIER | HG00735.hp1 HG01168.hp1 HG02040.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0024 a0001c0001t0001g0054 a0001c0001t0001g0055 others(8): Show |
12 | 424 | 0.0283 | -6 | c.290 others(21): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CBS_chr21_43048191_43080835 | 43077865 | CCACACA | C | upstream_gene_variant | MODIFIER | HG01106.hp2 HG01358.hp2 HG02809.hp1 others(5): Show |
a0001a0002a0017 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0006t0010others(2): Show | a0001c0001t0002g0036 a0001c0001t0002g0153 a0001c0002t0001g0001 others(4): Show |
8 | 298 | 0.0269 | -6 | c.-21 others(17): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 2031 | chr21 | TogoVar | |||||||
CBX3_chr7_26196745_26218607 | 26212580 | TTTTGTG | T | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00609.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0022a0002c0002t0005 | a0001c0001t0005g0008 a0001c0001t0005g0011 a0001c0001t0005g0020 others(13): Show |
28 | 410 | 0.0683 | -6 | c.*37 others(15): Show |
CBX3 | ENSG00000122565.19 | transcript | ENST00000396386.7 | protein_coding | 6/6 | 374 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CBX3_chr7_26196745_26218607 | 26217320 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00733.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0009 | a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0050 others(6): Show |
15 | 410 | 0.0366 | -6 | c.*51 others(17): Show |
CBX3 | ENSG00000122565.19 | transcript | ENST00000396386.7 | protein_coding | 3714 | chr7 | TogoVar | |||||||
CBX4_chr17_79828156_79844440 | 79828522 | TCTCACA | T | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG01106.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(3): Show | a0001c0001t0001g0001 a0001c0001t0002g0005 a0002c0002t0002g0038 others(5): Show |
19 | 420 | 0.0452 | -6 | c.*54 others(17): Show |
CBX4 | ENSG00000141582.15 | transcript | ENST00000269397.9 | protein_coding | 4633 | chr17 | TogoVar | |||||||
CBX4_chr17_79828156_79844440 | 79828524 | TCACACA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG02602.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(4): Show |
8 | 420 | 0.0191 | -6 | c.*54 others(17): Show |
CBX4 | ENSG00000141582.15 | transcript | ENST00000269397.9 | protein_coding | 4631 | chr17 | TogoVar | |||||||
CBX5_chr12_54225942_54285122 | 54229272 | TAAAAAA | T | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02109.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0017a0001c0001t0018others(1): Show | a0001c0001t0010g0082 a0001c0001t0010g0148 a0001c0001t0017g0049 others(3): Show |
6 | 368 | 0.0163 | -6 | c.*12 others(19): Show |
CBX5 | ENSG00000094916.16 | transcript | ENST00000209875.9 | protein_coding | 1669 | chr12 | TogoVar | |||||||
CBX5_chr12_54225942_54285122 | 54257078 | AAACTCC | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00733.hp1 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(10): Show | a0001c0001t0003g0006 a0001c0001t0003g0023 a0001c0001t0003g0032 others(54): Show |
62 | 368 | 0.1685 | -6 | c.137 others(21): Show |
CBX5 | ENSG00000094916.16 | transcript | ENST00000209875.9 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
CBX7_chr22_39125772_39157680 | 39147391 | CCTGTTA | C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(109): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0007others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0009 others(54): Show |
112 | 380 | 0.2947 | -6 | c.113 others(23): Show |
CBX7 | ENSG00000100307.13 | transcript | ENST00000216133.10 | protein_coding | 2/5 | chr22 | TogoVar | |||||||
CBX7_chr22_39125772_39157680 | 39152559 | GCGCGCA | G | 5_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0020a0001c0001t0021others(1): Show | a0001c0001t0014g0052 a0001c0001t0014g0053 a0001c0001t0014g0054 others(3): Show |
6 | 380 | 0.0158 | -6 | c.-12 others(15): Show |
CBX7 | ENSG00000100307.13 | transcript | ENST00000216133.10 | protein_coding | 1/6 | 116 | chr22 | TogoVar | ||||||
CC2D1A_chr19_13901201_13935879 | 13926065 | TACACAC | T | intron_variant | MODIFIER | HG01109.hp2 HG01361.hp2 HG02280.hp1 others(15): Show |
a0001a0004a0014 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0008a0001c0002t0001a0001c0006t0001others(2): Show | a0001c0001t0008g0202 a0001c0002t0001g0006 a0001c0002t0001g0287 others(12): Show |
18 | 370 | 0.0487 | -6 | c.194 others(23): Show |
CC2D1A | ENSG00000132024.18 | transcript | ENST00000318003.11 | protein_coding | 17/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CC2D1A_chr19_13901201_13935879 | 13926083 | CACACAT | C | intron_variant | MODIFIER | HG02145.hp1 HG02622.hp1 HG03540.hp2 |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0001a0004c0005t0001 | a0001c0002t0001g0297 a0004c0005t0001g0020 |
3 | 370 | 0.0081 | -6 | c.194 others(23): Show |
CC2D1A | ENSG00000132024.18 | transcript | ENST00000318003.11 | protein_coding | 17/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CC2D2A_chr4_15464882_15606552 | 15470689 | CTATATA | C | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01081.hp1 others(20): Show |
a0001a0002a0009 | a0001c0001a0001c0005a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(5): Show | a0001c0001t0001g0023 a0001c0001t0001g0218 a0001c0001t0001g0245 others(19): Show |
23 | 344 | 0.0669 | -6 | c.-19 others(21): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CC2D2A_chr4_15464882_15606552 | 15500075 | TTGTGTG | T | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp2 HG02965.hp1 others(3): Show |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0001a0001c0001t0002a0007c0012t0002 | a0001c0001t0001g0092 a0001c0001t0001g0282 a0001c0001t0001g0324 others(3): Show |
6 | 344 | 0.0174 | -6 | c.248 others(23): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CC2D2A_chr4_15464882_15606552 | 15529904 | TTTATTA | T | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp1 others(45): Show |
a0001a0002a0008others(2): Show | a0001c0001a0002c0003a0002c0006others(3): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(5): Show | a0001c0001t0001g0108 a0002c0003t0001g0148 a0002c0003t0001g0214 others(45): Show |
48 | 344 | 0.1395 | -6 | c.146 others(25): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 13/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95909039 | GGTCCTC | G | intron_variant | MODIFIER | HG01109.hp2 HG01123.hp1 HG01516.hp2 others(5): Show |
a0001a0005a0009others(2): Show | a0001c0001a0005c0006a0009c0010others(2): Show | a0001c0001t0002a0005c0006t0001a0009c0010t0001others(2): Show | a0001c0001t0002g0056 a0001c0001t0002g0057 a0005c0006t0001g0052 others(5): Show |
8 | 312 | 0.0256 | -6 | c.-24 others(21): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 1/34 | chr10 | TogoVar | |||||||
CC2D2B_chr10_95902975_96038745 | 95939483 | TTTTCTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(73): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0028a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0015 others(73): Show |
76 | 312 | 0.2436 | -6 | c.801 others(21): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95965785 | TTGTGTG | T | intron_variant | MODIFIER | HG01175.hp1 HG02293.hp2 HG02886.hp2 others(3): Show |
a0003a0011a0015others(1): Show | a0003c0003a0011c0037a0015c0015others(1): Show | a0003c0003t0001a0003c0003t0004a0011c0037t0001others(2): Show | a0003c0003t0001g0066 a0003c0003t0001g0101 a0003c0003t0004g0058 others(3): Show |
6 | 312 | 0.0192 | -6 | c.125 others(21): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95967462 | ATCTATT | A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00544.hp1 others(60): Show |
a0001a0002a0007others(6): Show | a0001c0001a0002c0002a0002c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(9): Show | a0001c0001t0001g0180 a0001c0001t0001g0220 a0001c0001t0001g0221 others(60): Show |
63 | 312 | 0.2019 | -6 | c.146 others(25): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95993834 | GTATATA | G | intron_variant | MODIFIER | HG02165.hp1 HG02451.hp1 NA18980.hp2 |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0002a0008c0011t0001 | a0001c0001t0002g0257 a0001c0001t0002g0266 a0008c0011t0001g0153 |
3 | 312 | 0.0096 | -6 | c.264 others(25): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95993900 | ATGTGTG | A | intron_variant | MODIFIER | HG00741.hp2 HG02083.hp2 NA19240.hp2 |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0001 | a0002c0002t0001g0038 a0002c0002t0001g0176 a0002c0005t0001g0283 |
3 | 312 | 0.0096 | -6 | c.264 others(25): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95993938 | GTGTGTA | G | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp2 HG01192.hp1 others(4): Show |
a0002a0005a0006others(1): Show | a0002c0002a0005c0006a0006c0007others(1): Show | a0002c0002t0001a0005c0006t0001a0006c0007t0001others(1): Show | a0002c0002t0001g0108 a0005c0006t0001g0137 a0005c0006t0001g0139 others(4): Show |
7 | 312 | 0.0224 | -6 | c.264 others(25): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95993944 | ATGTATG | A | intron_variant | MODIFIER | HG01109.hp2 HG02647.hp1 HG02717.hp2 others(5): Show |
a0002a0004a0005 | a0002c0002a0002c0005a0004c0004others(1): Show | a0002c0002t0001a0002c0005t0001a0004c0004t0001others(1): Show | a0002c0002t0001g0179 a0002c0002t0001g0187 a0002c0002t0001g0200 others(5): Show |
8 | 312 | 0.0256 | -6 | c.264 others(25): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 96025192 | AATATAT | A | intron_variant | MODIFIER | HG02135.hp2 HG02258.hp2 HG02451.hp1 others(4): Show |
a0002a0004a0008 | a0002c0002a0002c0005a0004c0004others(2): Show | a0002c0002t0001a0002c0005t0001a0004c0004t0001others(2): Show | a0002c0002t0001g0023 a0002c0002t0001g0194 a0002c0005t0001g0295 others(4): Show |
7 | 312 | 0.0224 | -6 | c.394 others(23): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 96029241 | CATATAT | C | intron_variant | MODIFIER | HG00639.hp1 HG01123.hp1 HG02572.hp2 others(5): Show |
a0002a0004a0013 | a0002c0002a0002c0005a0004c0004others(1): Show | a0002c0002t0001a0002c0005t0001a0004c0004t0001others(1): Show | a0002c0002t0001g0009 a0002c0002t0001g0027 a0002c0002t0001g0270 others(5): Show |
8 | 312 | 0.0256 | -6 | c.412 others(25): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 34/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 96029280 | ATATATG | A | intron_variant | MODIFIER | HG00609.hp1 HG02040.hp1 HG03834.hp1 others(7): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0008a0003c0003others(3): Show | a0001c0001t0002a0001c0008t0002a0003c0003t0002others(3): Show | a0001c0001t0002g0071 a0001c0001t0002g0229 a0001c0001t0002g0238 others(7): Show |
10 | 312 | 0.0321 | -6 | c.412 others(25): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 34/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCAR1_chr10_68716239_68797377 | 68758503 | AGTGTGT | A | intron_variant | MODIFIER | HG01346.hp2 HG01891.hp1 HG02165.hp2 others(15): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(2): Show | a0001c0001t0001g0027 a0001c0001t0001g0089 a0001c0001t0001g0163 others(15): Show |
18 | 360 | 0.0500 | -6 | c.192 others(25): Show |
CCAR1 | ENSG00000060339.14 | transcript | ENST00000265872.11 | protein_coding | 15/24 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCAR2_chr8_22599757_22625471 | 22616892 | TTTTTGG | T | intron_variant | MODIFIER | HG01099.hp2 HG02572.hp2 HG02976.hp1 others(5): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0006a0001c0004t0005 | a0001c0003t0006g0204 a0001c0003t0006g0206 a0001c0003t0006g0207 others(3): Show |
8 | 376 | 0.0213 | -6 | c.184 others(23): Show |
CCAR2 | ENSG00000158941.17 | transcript | ENST00000308511.9 | protein_coding | 14/20 | chr8 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59492144 | CAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0013 a0001c0001t0001g0031 a0001c0001t0001g0056 others(19): Show |
22 | 242 | 0.0909 | -6 | c.213 others(25): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59515958 | GCTTTTA | G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00597.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0031 a0001c0001t0001g0056 a0001c0001t0001g0069 others(16): Show |
19 | 242 | 0.0785 | -6 | c.213 others(25): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59583678 | TGTGCGC | T | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0016 a0001c0001t0003g0147 a0001c0001t0003g0149 others(9): Show |
12 | 242 | 0.0496 | -6 | c.213 others(27): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59583680 | TGCGCGC | T | intron_variant | MODIFIER | HG02717.hp2 HG02895.hp2 HG03471.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(2): Show | a0001c0001t0002g0230 a0001c0001t0003g0040 a0001c0001t0014g0123 others(2): Show |
5 | 242 | 0.0207 | -6 | c.213 others(27): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59625430 | CAAAAAA | C | intron_variant | MODIFIER | HG03688.hp2 HG03704.hp1 HG04204.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0013 a0001c0001t0002g0075 a0001c0001t0008g0092 others(2): Show |
5 | 242 | 0.0207 | -6 | c.212 others(25): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59658354 | AATATAT | A | intron_variant | MODIFIER | HG00621.hp1 HG02698.hp1 HG02970.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0022a0001c0001t0048others(1): Show | a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0144 others(4): Show |
7 | 242 | 0.0289 | -6 | c.212 others(25): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59663105 | TGCTAGG | T | intron_variant | MODIFIER | HG00738.hp1 HG02300.hp2 HG02922.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0057others(2): Show | a0001c0001t0002g0037 a0001c0001t0003g0036 a0001c0001t0003g0040 others(3): Show |
6 | 242 | 0.0248 | -6 | c.212 others(25): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59663107 | CTAGGGA | C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00733.hp2 others(77): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0001g0048 others(77): Show |
80 | 242 | 0.3306 | -6 | c.212 others(25): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59683915 | GCCAAGA | G | intron_variant | MODIFIER | HG01109.hp2 HG02572.hp2 HG02965.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0002g0169 a0001c0001t0002g0174 a0001c0001t0004g0175 others(5): Show |
8 | 242 | 0.0331 | -6 | c.212 others(25): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59692955 | AGCACAC | A | intron_variant | MODIFIER | HG02148.hp2 HG02886.hp2 HG03209.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0010a0001c0008t0010 | a0001c0001t0002g0058 a0001c0001t0010g0010 a0001c0008t0010g0009 |
3 | 242 | 0.0124 | -6 | c.212 others(23): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59692956 | GCACACA | G | intron_variant | MODIFIER | HG02165.hp2 HG02300.hp2 NA19070.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0003c0005t0025 | a0001c0001t0001g0031 a0001c0001t0002g0030 a0003c0005t0025g0034 |
3 | 242 | 0.0124 | -6 | c.212 others(23): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59693258 | ATAGCAT | A | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02109.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0002g0140 others(19): Show |
22 | 242 | 0.0909 | -6 | c.212 others(23): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCDC102A_chr16_57507181_57541571 | 57532698 | GACACAC | G | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG00741.hp2 others(36): Show |
a0001a0024 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0071 a0001c0001t0001g0176 a0001c0001t0001g0319 others(30): Show |
39 | 416 | 0.0938 | -6 | c.-14 others(25): Show |
CCDC102A | ENSG00000135736.6 | transcript | ENST00000258214.3 | protein_coding | 1/8 | chr16 | TogoVar | |||||||
CCDC102B_chr18_68793080_69060189 | 68796843 | ATGTGTG | A | upstream_gene_variant | MODIFIER | HG00621.hp1 NA18964.hp1 NA19004.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0001a0006c0012t0001 | a0001c0001t0001g0031 a0001c0001t0001g0038 a0006c0012t0001g0034 others(1): Show |
4 | 216 | 0.0185 | -6 | c.-13 others(17): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 1236 | chr18 | TogoVar | |||||||
CCDC102B_chr18_68793080_69060189 | 68874170 | ATGTGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(31): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0003a0003c0004others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(7): Show | a0001c0001t0001g0065 a0001c0001t0001g0183 a0001c0001t0001g0201 others(31): Show |
34 | 216 | 0.1574 | -6 | c.937 others(21): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC102B_chr18_68793080_69060189 | 68874208 | GTGTGTA | G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp2 others(45): Show |
a0001a0002a0026 | a0001c0001a0001c0007a0002c0002others(4): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0001others(6): Show | a0001c0001t0001g0195 a0001c0007t0001g0187 a0002c0002t0001g0006 others(45): Show |
48 | 216 | 0.2222 | -6 | c.937 others(21): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC102B_chr18_68793080_69060189 | 68874210 | GTGTATA | G | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01243.hp1 others(3): Show |
a0002 | a0002c0002a0002c0005a0002c0009 | a0002c0002t0001a0002c0002t0004a0002c0005t0001others(1): Show | a0002c0002t0001g0018 a0002c0002t0001g0127 a0002c0002t0004g0149 others(3): Show |
6 | 216 | 0.0278 | -6 | c.937 others(21): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC102B_chr18_68793080_69060189 | 68905784 | CTTTTTT | C | intron_variant | MODIFIER | HG01081.hp2 HG02109.hp2 HG02451.hp1 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0002c0002others(4): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0096 a0001c0007t0001g0005 a0002c0002t0001g0063 others(10): Show |
13 | 216 | 0.0602 | -6 | c.126 others(25): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC102B_chr18_68793080_69060189 | 68956544 | TATATAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01106.hp1 others(13): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0007others(8): Show | a0001c0001t0003a0001c0003t0001a0001c0007t0001others(10): Show | a0001c0001t0003g0044 a0001c0001t0003g0072 a0001c0003t0001g0068 others(13): Show |
16 | 216 | 0.0741 | -6 | c.126 others(27): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC102B_chr18_68793080_69060189 | 68998967 | CATATAT | C | intron_variant | MODIFIER | HG02257.hp1 HG02647.hp2 HG02723.hp2 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0005others(4): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(5): Show | a0001c0001t0001g0031 a0001c0001t0006g0016 a0002c0002t0001g0018 others(11): Show |
14 | 216 | 0.0648 | -6 | c.126 others(27): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |