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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CELF3_chr1_151695058_151721803 | 151696502 | TTTCGTTC others(13): Show |
T | downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0012 | 1 | 432 | 0.0023 | -20 | c.*69 others(31): Show |
CELF3 | ENSG00000159409.15 | transcript | ENST00000290583.9 | protein_coding | 3555 | chr1 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37383023 | CATGTATG others(13): Show |
C | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 184 | 0.0054 | -20 | c.370 others(39): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37414191 | CATCTATC others(13): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG00741.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0083a0001c0001t0002g0074a0001c0001t0002g0165others(15): Show | 18 | 184 | 0.0978 | -20 | c.369 others(39): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37444617 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG03139.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0129a0001c0001t0025g0162 | 2 | 184 | 0.0109 | -20 | c.369 others(39): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37513941 | CGTGTGTG others(13): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02723.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0008a0001c0001t0009others(3): Show | a0001c0001t0007g0120a0001c0001t0008g0125a0001c0001t0009g0028others(4): Show | 7 | 184 | 0.0380 | -20 | c.287 others(39): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3248853 | TCTTCCTT others(13): Show |
T | intron_variant | MODIFIER | HG04115.hp1 NA20752.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0044a0001c0002t0004g0047 | 2 | 262 | 0.0076 | -20 | c.260 others(37): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3248893 | CCTTCCTT others(13): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01261.hp1 HG01978.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001 | a0001c0001t0001g0003a0001c0001t0001g0068a0001c0001t0001g0069others(5): Show | 8 | 262 | 0.0305 | -20 | c.260 others(37): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3248897 | CCTTCCTT others(13): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0010 | a0001c0010t0005 | a0001c0010t0005g0252 | 1 | 262 | 0.0038 | -20 | c.260 others(37): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3254460 | TCCATCTA others(13): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0215a0001c0001t0002g0198 | 2 | 262 | 0.0076 | -20 | c.342 others(37): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3257781 | TTTTTTTT others(13): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02723.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0002g0251a0001c0001t0005g0249a0001c0001t0006g0250others(2): Show | 5 | 262 | 0.0191 | -20 | c.342 others(37): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3301326 | GTTTTTTT others(13): Show |
G | downstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 262 | 0.0038 | -20 | c.*46 others(31): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 4251 | chr19 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46371887 | ATCCACCC others(13): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0040 | a0040c0067 | a0040c0067t0009 | a0040c0067t0009g0104 | 1 | 104 | 0.0096 | -20 | c.775 others(37): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71728240 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG01109.hp1 | a0008 | a0008c0022 | a0008c0022t0036 | a0008c0022t0036g0280 | 1 | 320 | 0.0031 | -20 | c.204 others(39): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 10/23 | chr9 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80848953 | ATTTTTTT others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01074.hp2 others(57): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(23): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0027others(57): Show | 60 | 254 | 0.2362 | -20 | c.-17 others(41): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CEMIP_chr15_80774370_80956771 | 80875021 | ATTTTTTT others(13): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 254 | 0.0039 | -20 | c.94+ others(35): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CEMIP_chr15_80774370_80956771 | 80900630 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 254 | 0.0039 | -20 | c.141 others(39): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CEND1_chr11_782115_795090 | 790233 | AGGGTCCG others(13): Show |
A | upstream_gene_variant | MODIFIER | HG02818.hp2 HG02886.hp2 HG02895.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0005c0004t0001 | a0001c0001t0001g0009a0005c0004t0001g0033 | 7 | 414 | 0.0169 | -20 | c.-30 others(29): Show |
CEND1 | ENSG00000184524.6 | transcript | ENST00000330106.5 | protein_coding | 144 | chr11 | TogoVar | ||||||
CENPC_chr4_67463762_67550503 | 67491446 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG03139.hp2 |
a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0075a0002c0002t0010g0077 | 2 | 338 | 0.0059 | -20 | c.251 others(37): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 16/18 | chr4 | TogoVar | ||||||
CENPC_chr4_67463762_67550503 | 67491470 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0136 | 1 | 338 | 0.0030 | -20 | c.251 others(37): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 16/18 | chr4 | TogoVar | ||||||
CENPE_chr4_103100811_103203343 | 103200556 | TCTACACA others(13): Show |
T | upstream_gene_variant | MODIFIER | HG02622.hp2 HG03516.hp2 NA21309.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0069a0001c0004t0001g0074a0001c0004t0001g0078 | 3 | 320 | 0.0094 | -20 | c.-22 others(31): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 2214 | chr4 | TogoVar | ||||||
CENPF_chr1_214598195_214669571 | 214616834 | CCTCTTTC others(13): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02965.hp1 HG03209.hp1 others(1): Show |
a0004a0012a0040 | a0004c0013a0012c0014a0040c0047 | a0004c0013t0002a0012c0014t0002a0040c0047t0002 | a0004c0013t0002g0031a0004c0013t0002g0032a0012c0014t0002g0021others(1): Show | 4 | 282 | 0.0142 | -20 | c.360 others(37): Show |
CENPF | ENSG00000117724.15 | transcript | ENST00000366955.8 | protein_coding | 3/19 | chr1 | TogoVar | ||||||
CENPF_chr1_214598195_214669571 | 214616835 | CTCTTTCT others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(34): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0002a0003c0003others(14): Show | a0001c0001t0001a0001c0001t0009a0002c0002t0001others(18): Show | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0078others(32): Show | 37 | 282 | 0.1312 | -20 | c.360 others(37): Show |
CENPF | ENSG00000117724.15 | transcript | ENST00000366955.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CENPJ_chr13_24877279_24927861 | 24889571 | GCGCGTGT others(13): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(42): Show |
a0001a0004a0018 | a0001c0001a0001c0022a0004c0006others(1): Show | a0001c0001t0004a0001c0001t0014a0001c0022t0004others(3): Show | a0001c0001t0004g0015a0001c0001t0004g0042a0001c0001t0004g0043others(29): Show | 45 | 440 | 0.1023 | -20 | c.321 others(37): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 10/16 | chr13 | TogoVar | ||||||
CENPK_chr5_65512766_65568168 | 65527498 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01975.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0143a0001c0001t0001g0175a0001c0001t0001g0203others(11): Show | 14 | 374 | 0.0374 | -20 | c.597 others(35): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 9/10 | chr5 | TogoVar | ||||||
CENPK_chr5_65512766_65568168 | 65545322 | GCGCACAC others(13): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0126others(26): Show | 30 | 374 | 0.0802 | -20 | c.242 others(37): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 5/10 | chr5 | TogoVar | ||||||
CENPO_chr2_24788425_24827376 | 24788580 | TTTTTTTT others(13): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00673.hp1 others(62): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0008a0002c0002t0009others(6): Show | a0002c0002t0003g0003a0002c0002t0003g0010a0002c0002t0003g0011others(41): Show | 65 | 382 | 0.1702 | -20 | c.-49 others(31): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 4844 | chr2 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92361440 | CTTATTTT others(13): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01168.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0004g0003a0001c0001t0004g0004a0001c0001t0005g0008others(21): Show | 24 | 260 | 0.0923 | -20 | c.467 others(39): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92449437 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG03225.hp1 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239a0001c0001t0001g0240a0001c0001t0001g0241others(1): Show | 4 | 260 | 0.0154 | -20 | c.564 others(39): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPVL1_chrX_51705512_51717131 | 51707495 | AACACACA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG01175.hp1 HG02145.hp1 HG02683.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 238 | 0.0210 | -20 | c.-30 others(31): Show |
CENPVL1 | ENSG00000223591.5 | transcript | ENST00000602548.2 | protein_coding | 3016 | chrX | TogoVar | ||||||
CENPVL2_chrX_51676212_51687831 | 51685792 | TTGTGTGT others(13): Show |
T | upstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 237 | 0.0042 | -20 | c.-29 others(31): Show |
CENPVL2 | ENSG00000283093.1 | transcript | ENST00000634648.1 | protein_coding | 2962 | chrX | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65651666 | CTTCCTTC others(13): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0003 | 1 | 112 | 0.0089 | -20 | c.269 others(41): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65660460 | CTCCTTCC others(13): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG01346.hp1 HG02055.hp2 others(8): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0001c0003t0007others(2): Show | a0001c0002t0001g0059a0001c0002t0001g0069a0001c0002t0001g0073others(8): Show | 11 | 112 | 0.0982 | -20 | c.269 others(41): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65852298 | CCCTTCCC others(13): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02572.hp1 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0001 | a0001c0002t0001g0061a0001c0002t0001g0072a0001c0002t0001g0081others(5): Show | 8 | 112 | 0.0714 | -20 | c.216 others(37): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65864913 | AGTGTGTG others(13): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00735.hp2 others(10): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001a0002c0001t0004others(1): Show | a0001c0002t0001g0011a0001c0002t0001g0093a0002c0001t0001g0032others(10): Show | 13 | 112 | 0.1161 | -20 | c.216 others(41): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65920362 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG01346.hp2 HG02559.hp1 HG03017.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0001 | a0001c0003t0001g0006a0002c0001t0001g0026a0002c0001t0001g0027others(1): Show | 4 | 112 | 0.0357 | -20 | c.198 others(39): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 19/26 | chr17 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101911094 | CTTTTTTT others(13): Show |
C | upstream_gene_variant | MODIFIER | NA18951.hp2 NA18985.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0012a0002c0003t0003g0021 | 2 | 336 | 0.0060 | -20 | c.-41 others(31): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3915 | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 102004895 | CATATATA others(13): Show |
C | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG00741.hp1 others(69): Show |
a0001a0003a0009 | a0001c0001a0001c0013a0003c0004others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(13): Show | a0001c0001t0002g0051a0001c0001t0002g0054a0001c0001t0002g0079others(68): Show | 72 | 336 | 0.2143 | -20 | c.*72 others(31): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3834 | chr11 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80647037 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG03195.hp1 HG03486.hp1 others(1): Show |
a0002a0004a0011 | a0002c0002a0004c0004a0011c0018 | a0002c0002t0004a0004c0004t0003a0004c0004t0014others(1): Show | a0002c0002t0004g0067a0004c0004t0003g0063a0004c0004t0014g0069others(1): Show | 4 | 164 | 0.0244 | -20 | c.280 others(41): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80656275 | TTATTTAT others(13): Show |
T | intron_variant | MODIFIER | NA18906.hp2 NA19091.hp1 homoSapiens_chm13v2.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0003 | a0001c0001t0002g0128a0001c0001t0002g0157a0002c0002t0003g0084 | 3 | 164 | 0.0183 | -20 | c.280 others(41): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80656279 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG02280.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0006 | a0001c0001t0005g0011a0001c0001t0005g0013a0001c0001t0005g0059others(2): Show | 5 | 164 | 0.0305 | -20 | c.280 others(41): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80656291 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0066 | 1 | 164 | 0.0061 | -20 | c.280 others(41): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80729056 | GGGGTGTG others(13): Show |
G | intron_variant | MODIFIER | HG01891.hp2 NA19030.hp1 NA19030.hp2 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0005a0005c0005t0001 | a0001c0001t0005g0006a0001c0001t0005g0061a0005c0005t0001g0055 | 3 | 164 | 0.0183 | -20 | c.280 others(41): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80740494 | CTAGATAG others(13): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 164 | 0.0061 | -20 | c.280 others(39): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP152_chr15_48732938_48816069 | 48765636 | ATTTTTTT others(13): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 342 | 0.0029 | -20 | c.228 others(39): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 17/26 | chr15 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104872318 | CCGTGGGT others(13): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0032 | a0001c0032t0024 | a0001c0032t0024g0175 | 1 | 328 | 0.0031 | -20 | c.105 others(37): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180004873 | GGCTTGCT others(13): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG01123.hp2 others(8): Show |
a0002a0004a0007others(1): Show | a0002c0002a0002c0022a0004c0004others(2): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0020others(4): Show | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(8): Show | 11 | 248 | 0.0444 | -20 | c.113 others(39): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180074676 | CATCTTCT others(13): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
a0007 | a0007c0008a0007c0031 | a0007c0008t0006a0007c0008t0011a0007c0031t0006 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | 248 | 0.0242 | -20 | c.556 others(37): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP41_chr7_130388771_130446016 | 130437775 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161a0001c0001t0002g0162 | 2 | 346 | 0.0058 | -20 | c.33+ others(35): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1/10 | chr7 | TogoVar | ||||||
CEP43_chr6_166994397_167057718 | 167009115 | GGCGCGGT others(13): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp1 others(181): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(111): Show | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0014others(164): Show | 184 | 376 | 0.4894 | -20 | c.439 others(37): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 5/12 | chr6 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320684 | CTGTGTGT others(13): Show |
C | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01516.hp1 HG01884.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0009a0002c0002t0012a0002c0002t0017others(1): Show | a0002c0002t0009g0091a0002c0002t0009g0095a0002c0002t0009g0096others(6): Show | 10 | 388 | 0.0258 | -20 | c.*33 others(31): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 357 | chr4 | TogoVar |