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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP126_chr11_101910010_102006062 | 101911094 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03453.hp2 |
a0004 | a0004c0006 | a0004c0006t0016a0004c0006t0040 | a0004c0006t0016g0307 a0004c0006t0016g0308 a0004c0006t0040g0309 |
3 | 9 | 0.3333 | -15 | c.-41 others(26): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3915 | chr11 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101921777 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0265 | 1 | 237 | 0.0042 | -15 | c.129 others(30): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101936205 | ATTTTGGT others(8): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 336 | 0.0030 | -15 | c.249 others(32): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80729055 | GGGGGTGT others(8): Show |
G | intron_variant | MODIFIER | HG03516.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0008 | 1 | 161 | 0.0062 | -15 | c.280 others(36): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80729057 | GGGTGTGT others(8): Show |
G | intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0158 | 1 | 161 | 0.0062 | -15 | c.280 others(36): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81212708 | AGGGACAG others(8): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0036 | a0036c0057 | a0036c0057t0001 | a0036c0057t0001g0138 | 1 | 382 | 0.0026 | -15 | c.178 others(32): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 2/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81219650 | CCTGGGGC others(8): Show |
C | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0282 | 1 | 382 | 0.0026 | -15 | c.177 others(30): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 2/25 | chr17 | TogoVar | |||||||
CEP135_chr4_55943945_56038361 | 55961764 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG01069.hp1 HG01071.hp1 others(8): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0003 a0001c0003t0003g0020 a0001c0003t0003g0271 others(3): Show |
11 | 98 | 0.1122 | -15 | c.699 others(32): Show |
CEP135 | ENSG00000174799.12 | transcript | ENST00000257287.5 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84159545 | ATATTTTT others(8): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02723.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0004a0001c0007 | a0001c0004t0007a0001c0007t0002 | a0001c0004t0007g0202 a0001c0007t0002g0002 a0001c0007t0002g0020 others(1): Show |
5 | 200 | 0.0250 | -15 | c.278 others(34): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84159547 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02486.hp1 HG02717.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002a0001c0004t0010 | a0001c0001t0001g0028 a0001c0004t0002g0014 a0001c0004t0002g0096 others(4): Show |
7 | 108 | 0.0648 | -15 | c.278 others(34): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | |||||||
CEP192_chr18_12986362_13130036 | 13106428 | CCACACAA others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp2 others(66): Show |
a0001a0036 | a0001c0002a0001c0034a0001c0036others(2): Show | a0001c0002t0001a0001c0034t0001a0001c0036t0001others(2): Show | a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 others(63): Show |
69 | 390 | 0.1769 | -15 | c.704 others(34): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 40/44 | chr18 | TogoVar | |||||||
CEP20_chr16_15860719_15893603 | 15861477 | AAATAATA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG02109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0044 a0001c0001t0002g0011 a0001c0001t0005g0057 others(6): Show |
9 | 132 | 0.0682 | -15 | c.*59 others(26): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 4241 | chr16 | TogoVar | |||||||
CEP250_chr20_35450598_35524280 | 35483324 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02572.hp2 others(5): Show |
a0001a0005a0013 | a0001c0011a0005c0007a0013c0016 | a0001c0011t0023a0001c0011t0062a0005c0007t0021others(3): Show | a0001c0011t0023g0042 a0001c0011t0062g0133 a0005c0007t0021g0014 others(5): Show |
8 | 258 | 0.0310 | -15 | c.258 others(34): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | TogoVar | |||||||
CEP295_chr11_93656682_93735358 | 93701935 | GGTTGTTG others(8): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG02015.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 a0001c0001t0001g0262 |
2 | 352 | 0.0057 | -15 | c.527 others(32): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180016876 | AGGTCTTA others(8): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
a0010 | a0010c0010 | a0010c0010t0002 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | 246 | 0.0122 | -15 | c.217 others(32): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | TogoVar | |||||||
CEP350_chr1_179949810_180119875 | 180080804 | ACCATATT others(8): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01123.hp2 HG01256.hp2 others(2): Show |
a0006 | a0006c0008 | a0006c0008t0006a0006c0008t0011 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(2): Show |
5 | 246 | 0.0203 | -15 | c.612 others(32): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174303262 | GTGTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00621.hp2 others(40): Show |
a0002a0007 | a0002c0002a0002c0008a0007c0006 | a0002c0002t0004a0002c0002t0009a0002c0002t0012others(5): Show | a0002c0002t0004g0014 a0002c0002t0004g0024 a0002c0002t0004g0025 others(34): Show |
43 | 386 | 0.1114 | -15 | c.238 others(30): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109116122 | GTGTTGTG others(8): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0007 | a0001c0007t0027 | a0001c0007t0027g0005 | 1 | 220 | 0.0045 | -15 | c.-4+ others(32): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109116127 | GTGTTATG others(8): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02004.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(8): Show | a0001c0001t0001g0103 a0001c0001t0001g0158 a0001c0001t0005g0167 others(12): Show |
15 | 95 | 0.1579 | -15 | c.-4+ others(32): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109136700 | TTTTTATT others(8): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01123.hp1 HG02004.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(7): Show | a0001c0001t0001g0081 a0001c0001t0001g0214 a0001c0001t0005g0161 others(13): Show |
16 | 163 | 0.0982 | -15 | c.-3- others(30): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134550665 | CAAGTGGG others(8): Show |
C | intron_variant | MODIFIER | NA21309.hp1 NA21309.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0151 a0002c0002t0001g0270 |
2 | 320 | 0.0063 | -15 | c.138 others(32): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 649652 | CTGTGAGG others(8): Show |
C | intron_variant | MODIFIER | HG01258.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0025 | 1 | 88 | 0.0114 | -15 | c.177 others(34): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12668597 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp2 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0019 others(37): Show |
60 | 94 | 0.6383 | -15 | c.*47 others(26): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 4027 | chr18 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94331289 | GAAAAAAA others(8): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01192.hp2 HG01361.hp2 others(4): Show |
a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0352 a0003c0005t0005g0353 a0003c0005t0005g0354 others(4): Show |
7 | 134 | 0.0522 | -15 | c.170 others(32): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 14/16 | chr12 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118496356 | TTTTTATT others(8): Show |
T | intron_variant | MODIFIER | HG02818.hp2 HG02897.hp2 |
a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0049 a0004c0004t0006g0052 |
2 | 152 | 0.0132 | -15 | c.125 others(34): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 5/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118519560 | GTGTGTGT others(8): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02630.hp1 others(4): Show |
a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0043 a0004c0004t0006g0045 a0004c0004t0006g0046 others(4): Show |
7 | 293 | 0.0239 | -15 | c.113 others(34): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118519564 | GTGTGTGT others(8): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp2 others(51): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0002c0002t0027a0002c0002t0028others(2): Show | a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 others(51): Show |
54 | 287 | 0.1882 | -15 | c.113 others(34): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118545001 | GATAGGTA others(8): Show |
G | intron_variant | MODIFIER | HG01981.hp1 HG02293.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0004 a0003c0003t0003g0005 |
2 | 300 | 0.0067 | -15 | c.102 others(36): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600301 | GTGTGTGT others(8): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0195 a0002c0002t0002g0232 |
2 | 277 | 0.0072 | -15 | c.232 others(34): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32913298 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0273 | 1 | 384 | 0.0026 | -15 | c.156 others(34): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | |||||||
CEP97_chr3_101719614_101775562 | 101730231 | TTTTTGTT others(8): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00609.hp2 others(105): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0003a0004c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0231 a0001c0001t0002g0001 a0001c0001t0002g0003 others(88): Show |
108 | 192 | 0.5625 | -15 | c.447 others(32): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEPT1_chr1_111135223_111190104 | 111154187 | GTATTTTA others(8): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00733.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0044 others(25): Show |
39 | 74 | 0.5270 | -15 | c.340 others(32): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46713523 | AAAAAAAC others(8): Show |
A | intron_variant | MODIFIER | NA18964.hp1 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 2 | 338 | 0.0059 | -15 | c.380 others(32): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 3/12 | chr22 | TogoVar | |||||||
CERS1_chr19_18863545_18901158 | 18868803 | CGACGGGC others(8): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0222 | 1 | 378 | 0.0026 | -15 | c.*11 others(26): Show |
CERS1 | ENSG00000223802.9 | transcript | ENST00000623882.4 | protein_coding | 8/8 | 1759 | chr19 | TogoVar | ||||||
CERS1_chr19_18863545_18901158 | 18885914 | TGCCATGC others(8): Show |
T | intron_variant | MODIFIER | NA18942.hp2 NA18945.hp1 NA18948.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 others(4): Show |
7 | 378 | 0.0185 | -15 | c.410 others(32): Show |
CERS1 | ENSG00000223802.9 | transcript | ENST00000623882.4 | protein_coding | 2/7 | chr19 | TogoVar | |||||||
CERS2_chr1_150960186_150979835 | 150971669 | ACACAAAC others(8): Show |
A | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 380 | 0.0026 | -15 | c.-1- others(30): Show |
CERS2 | ENSG00000143418.20 | transcript | ENST00000368954.10 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100413510 | GACTATAC others(8): Show |
G | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 71 | 0.0141 | -15 | c.100 others(36): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100497880 | CACACACA others(8): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG02818.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0012a0001c0003t0022a0002c0002t0035 | a0001c0003t0012g0348 a0001c0003t0012g0349 a0001c0003t0022g0350 others(1): Show |
4 | 360 | 0.0111 | -15 | c.173 others(32): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3/11 | chr15 | TogoVar | |||||||
CERT1_chr5_75372775_75516629 | 75504932 | ATTCATGT others(8): Show |
A | intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 | 1 | 334 | 0.0030 | -15 | c.231 others(32): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 2/16 | chr5 | TogoVar | |||||||
CERT1_chr5_75372775_75516629 | 75505285 | AAAAACAA others(8): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG03139.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 others(2): Show |
5 | 333 | 0.0150 | -15 | c.231 others(30): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 2/16 | chr5 | TogoVar | |||||||
CFAP100_chr3_126389909_126441556 | 126390701 | AATGATAC others(8): Show |
A | upstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0098 | 1 | 420 | 0.0024 | -15 | c.-43 others(26): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 4207 | chr3 | TogoVar | |||||||
CFAP100_chr3_126389909_126441556 | 126401396 | TTTATATA others(8): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 420 | 0.0024 | -15 | c.49+ others(30): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81133212 | TATATATA others(8): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 446 | 0.0022 | -15 | c.-11 others(26): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1057 | chr15 | TogoVar | |||||||
CFAP161_chr15_81129270_81154179 | 81133213 | ATATATAT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG01123.hp1 HG01123.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0118 |
2 | 440 | 0.0045 | -15 | c.-11 others(26): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1056 | chr15 | TogoVar | |||||||
CFAP161_chr15_81129270_81154179 | 81146853 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 446 | 0.0022 | -15 | c.637 others(31): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 5/6 | chr15 | TogoVar | |||||||
CFAP20_chr16_58108592_58134381 | 58123595 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03579.hp2 NA18956.hp2 NA18962.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0087 |
5 | 48 | 0.1042 | -15 | c.84+ others(30): Show |
CFAP20 | ENSG00000070761.8 | transcript | ENST00000262498.8 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169648162 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 115 | 0.0087 | -15 | c.131 others(34): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169653028 | AAATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00558.hp2 NA18952.hp1 NA19007.hp1 others(3): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0002 | a0002c0002t0002g0004 a0002c0002t0002g0088 a0002c0002t0002g0089 others(3): Show |
6 | 346 | 0.0173 | -15 | c.959 others(32): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169653030 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | NA18993.hp2 NA19000.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0298 a0002c0002t0002g0087 |
2 | 309 | 0.0065 | -15 | c.959 others(32): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CFAP221_chr2_119539449_119661661 | 119589189 | CCACCAGT others(8): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG01168.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0022 a0002c0002t0001g0219 a0002c0002t0001g0220 others(1): Show |
4 | 224 | 0.0179 | -15 | c.631 others(32): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |