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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP192_chr18_12986362_13130036 | 13046829 | CTTTTTTT | C | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 HG02717.hp2 others(3): Show |
a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0128 a0008c0008t0001g0129 a0008c0008t0001g0130 others(3): Show |
6 | 260 | 0.0231 | -7 | c.206 others(26): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 15/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CEP192_chr18_12986362_13130036 | 13074142 | TCTATATC | T | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02572.hp2 others(5): Show |
a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0128 a0008c0008t0001g0129 a0008c0008t0001g0130 others(5): Show |
8 | 390 | 0.0205 | -7 | c.561 others(24): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 30/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180099780 | ATTTTTTT | A | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(86): Show |
a0001a0014a0015others(5): Show | a0001c0001a0001c0011a0001c0033others(7): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(11): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(86): Show |
89 | 196 | 0.4541 | -7 | c.918 others(24): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130389406 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01256.hp1 HG01256.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0016others(4): Show | a0001c0001t0002g0039 a0001c0001t0002g0051 a0001c0001t0002g0053 others(8): Show |
11 | 37 | 0.2973 | -7 | c.*94 others(18): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 4364 | chr7 | TogoVar | |||||||
CEP41_chr7_130388771_130446016 | 130432588 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG02015.hp1 NA18945.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 others(4): Show |
7 | 200 | 0.0350 | -7 | c.34- others(22): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
CEP43_chr6_166994397_167057718 | 167009844 | GAAAAATA | G | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp1 HG02895.hp2 others(2): Show |
a0005 | a0005c0005 | a0005c0005t0019a0005c0005t0074a0005c0005t0088 | a0005c0005t0019g0041 a0005c0005t0019g0209 a0005c0005t0074g0208 others(1): Show |
5 | 374 | 0.0134 | -7 | c.439 others(22): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP43_chr6_166994397_167057718 | 167050781 | GAAAAAAA | G | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010a0001c0001t0030others(11): Show | a0001c0001t0008g0019 a0001c0001t0008g0035 a0001c0001t0008g0186 others(20): Show |
27 | 232 | 0.1164 | -7 | c.*10 others(20): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 13/13 | 10820 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109129822 | TAATTTAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(39): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0007a0002c0002t0002a0002c0002t0023others(23): Show | a0001c0001t0007g0113 a0002c0002t0002g0001 a0002c0002t0002g0013 others(36): Show |
42 | 226 | 0.1858 | -7 | c.-3- others(24): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109173934 | TAAAAAAA | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(40): Show |
a0001a0002a0003others(1): Show | a0001c0007a0002c0002a0003c0005others(1): Show | a0001c0007t0027a0002c0002t0002a0002c0002t0023others(24): Show | a0001c0007t0027g0005 a0002c0002t0002g0001 a0002c0002t0002g0013 others(37): Show |
43 | 211 | 0.2038 | -7 | c.*10 others(20): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 11/11 | 10974 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109178673 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG02818.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0054a0002c0002t0075others(2): Show | a0001c0001t0006g0059 a0001c0001t0054g0202 a0002c0002t0075g0205 others(2): Show |
5 | 50 | 0.1000 | -7 | c.*15 others(20): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 4256 | chr6 | TogoVar | |||||||
CEP68_chr2_65051416_65092004 | 65058087 | GTAGCTGT | G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp1 others(54): Show |
a0001a0002a0013others(1): Show | a0001c0001a0002c0002a0002c0010others(3): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0026others(4): Show | a0001c0001t0001g0060 a0001c0001t0001g0061 a0002c0002t0002g0001 others(26): Show |
57 | 358 | 0.1592 | -7 | c.-47 others(24): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CEP68_chr2_65051416_65092004 | 65066744 | AAATATAT | A | intron_variant | MODIFIER | HG01167.hp2 HG02257.hp2 HG02451.hp2 others(17): Show |
a0001a0004 | a0001c0001a0004c0004a0004c0011 | a0001c0001t0001a0004c0004t0004a0004c0004t0011others(2): Show | a0001c0001t0001g0123 a0004c0004t0004g0008 a0004c0004t0004g0014 others(11): Show |
20 | 308 | 0.0649 | -7 | c.-46 others(24): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CEP78_chr9_78231075_78284690 | 78252495 | GATATAAC | G | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0091 | a0001c0001t0015g0225 a0001c0001t0015g0242 a0001c0001t0091g0236 |
3 | 338 | 0.0089 | -7 | c.120 others(24): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 9/16 | chr9 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94380084 | AAAAAAAC | A | intron_variant | MODIFIER | NA18940.hp2 NA18972.hp1 NA18989.hp2 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0095 a0001c0003t0001g0126 a0001c0003t0002g0122 others(6): Show |
9 | 361 | 0.0249 | -7 | c.550 others(24): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 6/16 | chr12 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118519572 | GTGTGTGT | G | intron_variant | MODIFIER | HG00621.hp1 HG01884.hp2 HG02155.hp2 others(7): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0008a0005c0005t0015 | a0001c0001t0001g0055 a0005c0005t0008g0249 a0005c0005t0008g0250 others(7): Show |
10 | 300 | 0.0333 | -7 | c.113 others(26): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118569341 | CAAAAAAA | C | intron_variant | MODIFIER | HG00621.hp1 HG01255.hp2 HG01261.hp2 others(9): Show |
a0002a0004a0005 | a0002c0002a0004c0004a0005c0005 | a0002c0002t0002a0004c0004t0006a0005c0005t0008others(1): Show | a0002c0002t0002g0177 a0004c0004t0006g0041 a0004c0004t0006g0042 others(9): Show |
12 | 46 | 0.2609 | -7 | c.233 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600294 | CCTGGGGG | C | intron_variant | MODIFIER | HG01167.hp1 HG01358.hp2 HG01952.hp2 others(5): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0008 | a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0134 others(5): Show |
8 | 250 | 0.0320 | -7 | c.232 others(26): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600301 | GTGTGTGT | G | intron_variant | MODIFIER | HG00423.hp2 HG02896.hp2 HG03516.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0002 | a0001c0001t0004g0098 a0002c0002t0002g0174 a0002c0002t0002g0189 others(1): Show |
4 | 279 | 0.0143 | -7 | c.232 others(26): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118612676 | CGGGGGGG | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp2 others(72): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0025others(8): Show | a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0120 others(72): Show |
75 | 87 | 0.8621 | -7 | c.232 others(26): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32913299 | ATATATAT | A | intron_variant | MODIFIER | HG02622.hp2 HG02717.hp1 HG03453.hp2 others(2): Show |
a0005a0007 | a0005c0006a0007c0009 | a0005c0006t0011a0005c0006t0029a0007c0009t0011 | a0005c0006t0011g0146 a0005c0006t0029g0147 a0007c0009t0011g0125 others(2): Show |
5 | 383 | 0.0131 | -7 | c.156 others(26): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32913303 | ATATTTTT | A | intron_variant | MODIFIER | HG00609.hp1 HG01106.hp1 HG01361.hp1 others(18): Show |
a0005a0016 | a0005c0006a0016c0023 | a0005c0006t0007a0005c0006t0009a0005c0006t0030others(2): Show | a0005c0006t0007g0088 a0005c0006t0007g0130 a0005c0006t0007g0131 others(18): Show |
21 | 375 | 0.0560 | -7 | c.156 others(26): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | |||||||
CEP95_chr17_64501977_64542946 | 64542869 | GTACACTA | G | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01891.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0002g0042 others(6): Show |
19 | 246 | 0.0772 | -7 | c.*50 others(18): Show |
CEP95 | ENSG00000258890.8 | transcript | ENST00000556440.7 | protein_coding | 4924 | chr17 | TogoVar | |||||||
CEPT1_chr1_111135223_111190104 | 111143660 | ACATTTTC | A | intron_variant | MODIFIER | HG01099.hp1 HG02647.hp2 HG03471.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0203 a0001c0001t0001g0204 a0002c0004t0001g0208 |
3 | 408 | 0.0074 | -7 | c.-74 others(24): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181654733 | AATATATC | A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(33): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(9): Show | a0001c0002t0002g0116 a0001c0002t0002g0122 a0001c0002t0003g0094 others(32): Show |
36 | 296 | 0.1216 | -7 | c.238 others(24): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CERK_chr22_46679410_46743252 | 46716940 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00609.hp1 others(33): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0012a0001c0001t0029a0001c0001t0053others(22): Show | a0001c0001t0012g0290 a0001c0001t0012g0291 a0001c0001t0012g0292 others(33): Show |
36 | 324 | 0.1111 | -7 | c.379 others(24): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 3/12 | chr22 | TogoVar | |||||||
CERK_chr22_46679410_46743252 | 46737300 | AAAAAAAC | A | intron_variant | MODIFIER | HG00323.hp2 HG01243.hp1 HG01243.hp2 others(9): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0010others(6): Show | a0001c0001t0004g0282 a0001c0001t0004g0284 a0001c0001t0006g0273 others(9): Show |
12 | 205 | 0.0585 | -7 | c.142 others(22): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 1/12 | chr22 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100405242 | AAAAAAAC | A | intron_variant | MODIFIER | HG00140.hp2 HG01099.hp2 HG01175.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(3): Show | a0001c0001t0002g0029 a0001c0001t0002g0079 a0001c0001t0002g0094 others(17): Show |
20 | 268 | 0.0746 | -7 | c.100 others(26): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100497557 | AAGAAATT | A | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00735.hp2 others(11): Show |
a0001 | a0001c0003 | a0001c0003t0007a0001c0003t0010a0001c0003t0022 | a0001c0003t0007g0353 a0001c0003t0007g0354 a0001c0003t0007g0355 others(11): Show |
14 | 360 | 0.0389 | -7 | c.173 others(24): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100497888 | CACACACA | C | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02486.hp1 others(5): Show |
a0001a0002 | a0001c0003a0001c0006a0002c0002 | a0001c0003t0002a0001c0006t0003a0002c0002t0009others(2): Show | a0001c0003t0002g0311 a0001c0006t0003g0160 a0002c0002t0009g0312 others(5): Show |
8 | 301 | 0.0266 | -7 | c.173 others(24): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3/11 | chr15 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8236695 | AAAAAAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(233): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0006others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0115 a0001c0001t0001g0197 a0001c0001t0001g0198 others(232): Show |
236 | 415 | 0.5687 | -7 | c.-1- others(24): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8251813 | ATGTGAGC | A | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG01081.hp2 others(36): Show |
a0001a0003a0004 | a0001c0001a0001c0008a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0408 a0001c0001t0002g0003 a0001c0001t0002g0130 others(36): Show |
39 | 416 | 0.0938 | -7 | c.173 others(22): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8258677 | TATTAAAA | T | intron_variant | MODIFIER | HG00733.hp2 HG01070.hp1 HG01071.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0042 a0001c0002t0001g0074 a0001c0002t0001g0097 others(5): Show |
8 | 416 | 0.0192 | -7 | c.848 others(22): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8266863 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01070.hp1 HG01071.hp1 others(6): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0004 | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(3): Show | a0001c0002t0001g0042 a0001c0002t0001g0074 a0001c0002t0001g0396 others(6): Show |
9 | 63 | 0.1429 | -7 | c.*47 others(18): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4443 | chr19 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8267294 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG01943.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0004 | a0001c0001t0002g0309 a0001c0001t0002g0333 a0001c0001t0002g0349 others(3): Show |
6 | 113 | 0.0531 | -7 | c.*51 others(18): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4874 | chr19 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50148904 | CAAAAAAA | C | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02572.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(1): Show | a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0086 others(11): Show |
14 | 289 | 0.0484 | -7 | c.198 others(24): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50148922 | AAAAAAAT | A | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01069.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0088 a0001c0001t0001g0112 others(25): Show |
29 | 318 | 0.0912 | -7 | c.198 others(24): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50148924 | AAAAATAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0093 others(50): Show |
55 | 309 | 0.1780 | -7 | c.198 others(24): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50148926 | AAATATAT | A | intron_variant | MODIFIER | HG02074.hp1 HG02145.hp2 HG03453.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010 | a0001c0001t0001g0127 a0001c0001t0001g0146 a0001c0001t0001g0163 others(6): Show |
9 | 317 | 0.0284 | -7 | c.198 others(24): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168645089 | TTAAAAAA | T | intron_variant | MODIFIER | HG01261.hp1 HG01884.hp1 HG02257.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(1): Show | a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0008g0165 others(4): Show |
7 | 102 | 0.0686 | -7 | c.465 others(26): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168763178 | CCTTTTTT | C | intron_variant | MODIFIER | HG02451.hp2 HG02622.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0015 a0001c0001t0010g0033 a0001c0001t0010g0065 others(2): Show |
5 | 174 | 0.0287 | -7 | c.846 others(24): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CETP_chr16_56956950_56988845 | 56967900 | AGTGAACT | A | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 HG02818.hp1 others(1): Show |
a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0090 a0002c0009t0001g0091 a0002c0009t0001g0177 others(1): Show |
4 | 460 | 0.0087 | -7 | c.234 others(24): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CFAP119_chr16_30752423_30767062 | 30757171 | GCTCTGGC | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(248): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(29): Show |
251 | 264 | 0.9508 | -7 | c.*29 others(16): Show |
CFAP119 | ENSG00000196118.12 | transcript | ENST00000543610.6 | protein_coding | 251 | chr16 | TogoVar | |||||||
CFAP126_chr1_161359733_161372876 | 161371676 | TTTTGTTG | T | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02886.hp2 HG02895.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 8 | 347 | 0.0231 | -7 | c.-38 others(18): Show |
CFAP126 | ENSG00000188931.4 | transcript | ENST00000367974.2 | protein_coding | 3801 | chr1 | TogoVar | |||||||
CFAP141_chr1_154194085_154211333 | 154203171 | AAATATAT | A | intron_variant | MODIFIER | HG02723.hp2 HG03225.hp2 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0085 a0001c0001t0001g0135 |
3 | 363 | 0.0083 | -7 | c.74+ others(22): Show |
CFAP141 | ENSG00000163263.7 | transcript | ENST00000368525.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
CFAP157_chr9_127701988_127721002 | 127720900 | TTCCTCCC | T | downstream_gene_variant | MODIFIER | NA18939.hp1 NA18960.hp2 NA18982.hp1 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0002 | 3 | 351 | 0.0085 | -7 | c.*69 others(18): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4899 | chr9 | TogoVar | |||||||
CFAP20_chr16_58108592_58134381 | 58123595 | CAAAAAAA | C | intron_variant | MODIFIER | HG02602.hp2 HG03491.hp2 HG03654.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011 | a0001c0001t0005g0037 a0001c0001t0005g0072 a0001c0001t0005g0122 others(2): Show |
6 | 49 | 0.1224 | -7 | c.84+ others(22): Show |
CFAP20 | ENSG00000070761.8 | transcript | ENST00000262498.8 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169648162 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp2 others(87): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 others(73): Show |
90 | 204 | 0.4412 | -7 | c.131 others(26): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169653030 | ATATATAT | A | intron_variant | MODIFIER | HG02083.hp2 HG04115.hp1 HG04228.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0149 a0001c0001t0001g0210 others(1): Show |
4 | 311 | 0.0129 | -7 | c.959 others(24): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169669774 | TAAAAAAA | T | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00733.hp1 others(22): Show |
a0001a0011 | a0001c0001a0011c0014 | a0001c0001t0003a0011c0014t0003 | a0001c0001t0003g0097 a0001c0001t0003g0109 a0001c0001t0003g0110 others(22): Show |
25 | 193 | 0.1295 | -7 | c.662 others(24): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
CFAP251_chr12_121913592_122008919 | 122005818 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02145.hp2 others(4): Show |
a0001 | a0001c0003a0001c0011 | a0001c0003t0001a0001c0011t0001 | a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0263 others(4): Show |
7 | 271 | 0.0258 | -7 | c.*20 others(18): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 1900 | chr12 | TogoVar |