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Population-based analysis of POT1 variants in a cutaneous melanoma case-control cohort

Pathogenic germline variants in the protection of telomeres 1 gene (POT1) have been associated with predisposition to a range of tumor types, including melanoma, glioma, leukemia and cardioangiosarcoma. We sequenced all coding exons of the POT1 gene in 2,929 European-descent melanoma cases and 3,298 controls, identifying 43 protein-changing genetic variants. We performed functional studies on each of these variants and explored their possible contribution to disease risk.

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Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001006870 Other

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00007839917 bam 1.8 MB
EGAF00007839918 bam 2.1 MB
EGAF00007839919 bam 1.7 MB
EGAF00007839920 bam 1.5 MB
EGAF00007839921 bam 3.1 MB
EGAF00007839922 bam 1.9 MB
EGAF00007839923 bam 1.6 MB
EGAF00007839924 bam 2.8 MB
EGAF00007839925 bam 2.9 MB
EGAF00007839926 bam 3.0 MB
EGAF00007839927 bam 3.0 MB
EGAF00007839928 bam 2.2 MB
EGAF00007839929 bam 2.6 MB
EGAF00007839930 bam 1.9 MB
EGAF00007839931 bam 3.4 MB
EGAF00007839932 bam 2.3 MB
EGAF00007839933 bam 2.2 MB
EGAF00007839934 bam 2.8 MB
EGAF00007839935 bam 2.9 MB
EGAF00007839936 bam 2.6 MB
EGAF00007839937 bam 2.7 MB
EGAF00007839938 bam 2.4 MB
EGAF00007839939 bam 1.3 MB
EGAF00007839940 bam 2.5 MB
EGAF00007839941 bam 2.0 MB
EGAF00007839942 bam 3.7 MB
EGAF00007839943 bam 2.6 MB
EGAF00007839944 bam 1.2 MB
EGAF00007839945 bam 2.6 MB
EGAF00007839946 bam 2.9 MB
EGAF00007839947 bam 2.4 MB
EGAF00007839948 bam 1.2 MB
EGAF00007839949 bam 1.4 MB
EGAF00007839950 bam 1.7 MB
EGAF00007839951 bam 1.5 MB
EGAF00007839952 bam 2.0 MB
EGAF00007839953 bam 2.6 MB
EGAF00007839954 bam 1.8 MB
EGAF00007839955 bam 447.2 kB
EGAF00007839956 bam 2.2 MB
EGAF00007839957 bam 1.8 MB
EGAF00007839958 bam 2.0 MB
EGAF00007839959 bam 2.1 MB
EGAF00007839960 bam 2.1 MB
EGAF00007839961 bam 2.1 MB
EGAF00007839962 bam 1.8 MB
EGAF00007839963 bam 1.9 MB
EGAF00007839964 bam 2.1 MB
EGAF00007839965 bam 2.5 MB
EGAF00007839966 bam 1.9 MB
EGAF00007839967 bam 1.7 MB
EGAF00007839968 bam 1.9 MB
EGAF00007839969 bam 2.4 MB
EGAF00007839970 bam 1.8 MB
EGAF00007839971 bam 924.4 kB
EGAF00007839972 bam 1.6 MB
EGAF00007839973 bam 2.2 MB
EGAF00007839974 bam 2.8 MB
EGAF00007839975 bam 2.8 MB
EGAF00007839976 bam 1.5 MB
EGAF00007839977 bam 3.3 MB
EGAF00007839978 bam 2.2 MB
EGAF00007839979 bam 1.5 MB
EGAF00007839980 bam 3.5 MB
EGAF00007839981 bam 2.4 MB
EGAF00007839982 bam 1.3 MB
EGAF00007839983 bam 1.2 MB
EGAF00007839984 bam 2.1 MB
EGAF00007839985 bam 2.2 MB
EGAF00007839986 bam 2.4 MB
EGAF00007839987 bam 2.5 MB
EGAF00007839988 bam 2.1 MB
EGAF00007839989 bam 1.3 MB
EGAF00007839990 bam 2.6 MB
EGAF00007839991 bam 1.4 MB
EGAF00007839992 bam 2.4 MB
EGAF00007839993 bam 1.4 MB
EGAF00007839994 bam 2.3 MB
EGAF00007839995 bam 2.1 MB
EGAF00007839996 bam 2.1 MB
EGAF00007839997 bam 3.0 MB
EGAF00007839998 bam 2.7 MB
EGAF00007839999 bam 2.6 MB
EGAF00007840000 bam 1.6 MB
EGAF00007840001 bam 1.4 MB
EGAF00007840002 bam 2.5 MB
EGAF00007840003 bam 3.4 MB
EGAF00007840004 bam 4.1 MB
EGAF00007840005 bam 1.4 MB
EGAF00007840006 bam 1.7 MB
EGAF00007840007 bam 2.1 MB
EGAF00007840008 bam 2.8 MB
EGAF00007840009 bam 2.7 MB
EGAF00007840010 bam 2.4 MB
EGAF00007840011 bam 1.3 MB
EGAF00007840012 bam 3.2 MB
EGAF00007840013 bam 1.7 MB
EGAF00007840014 bam 1.8 MB
EGAF00007840015 bam 1.3 MB
EGAF00007840016 bam 2.4 MB
EGAF00007840017 bam 2.5 MB
EGAF00007840018 bam 2.4 MB
EGAF00007840019 bam 1.1 MB
EGAF00007840020 bam 2.5 MB
EGAF00007840021 bam 2.7 MB
EGAF00007840022 bam 3.3 MB
EGAF00007840023 bam 1.9 MB
EGAF00007840024 bam 3.0 MB
EGAF00007840025 bam 2.6 MB
EGAF00007840026 bam 2.2 MB
EGAF00007840027 bam 1.1 MB
EGAF00007840028 bam 2.0 MB
EGAF00007840029 bam 2.2 MB
EGAF00007840030 bam 2.1 MB
EGAF00007840031 bam 2.4 MB
EGAF00007840032 bam 1.9 MB
EGAF00007840033 bam 3.7 MB
EGAF00007840034 bam 1.8 MB
EGAF00007840035 bam 2.2 MB
EGAF00007840036 bam 2.6 MB
EGAF00007840037 bam 1.5 MB
EGAF00007840038 bam 2.1 MB
EGAF00007840039 bam 2.1 MB
EGAF00007840040 bam 2.4 MB
EGAF00007840041 bam 2.3 MB
EGAF00007840042 bam 2.3 MB
EGAF00007840043 bam 3.4 MB
EGAF00007840044 bam 3.1 MB
EGAF00007840045 bam 2.5 MB
EGAF00007840046 bam 1.9 MB
EGAF00007840047 bam 2.1 MB
EGAF00007840048 bam 2.1 MB
EGAF00007840049 bam 2.7 MB
EGAF00007840050 bam 834.1 kB
EGAF00007840051 bam 2.3 MB
EGAF00007840052 bam 1.6 MB
EGAF00007840053 bam 1.9 MB
EGAF00007840054 bam 2.4 MB
EGAF00007840055 bam 2.7 MB
EGAF00007840056 bam 3.3 MB
EGAF00007840057 bam 2.1 MB
EGAF00007840058 bam 1.1 MB
EGAF00007840059 bam 2.1 MB
EGAF00007840060 bam 2.2 MB
EGAF00007840061 bam 1.4 MB
EGAF00007840062 bam 2.1 MB
EGAF00007840063 bam 3.4 MB
EGAF00007840064 bam 869.4 kB
EGAF00007840065 bam 2.0 MB
EGAF00007840066 bam 2.0 MB
EGAF00007840067 bam 2.0 MB
EGAF00007840068 bam 2.2 MB
EGAF00007840069 bam 2.5 MB
EGAF00007840070 bam 1.6 MB
EGAF00007840071 bam 398.4 kB
EGAF00007840072 bam 1.9 MB
EGAF00007840073 bam 2.0 MB
EGAF00007840074 bam 2.0 MB
EGAF00007840075 bam 947.1 kB
EGAF00007840076 bam 1.5 MB
EGAF00007840077 bam 1.9 MB
EGAF00007840078 bam 2.2 MB
EGAF00007840079 bam 2.3 MB
EGAF00007840080 bam 2.2 MB
EGAF00007840081 bam 1.1 MB
EGAF00007840082 bam 1.6 MB
EGAF00007840083 bam 1.9 MB
EGAF00007840084 bam 2.4 MB
EGAF00007840085 bam 2.0 MB
EGAF00007840086 bam 2.3 MB
EGAF00007840087 bam 908.1 kB
EGAF00007840088 bam 1.6 MB
EGAF00007840089 bam 1.4 MB
EGAF00007840090 bam 3.0 MB
EGAF00007840091 bam 1.7 MB
EGAF00007840092 bam 531.3 kB
EGAF00007840093 bam 1.2 MB
EGAF00007840094 bam 1.2 MB
EGAF00007840095 bam 2.6 MB
EGAF00007840096 bam 2.3 MB
EGAF00007840097 bam 1.8 MB
EGAF00007840098 bam 1.5 MB
EGAF00007840099 bam 2.2 MB
EGAF00007840100 bam 1.4 MB
EGAF00007840101 bam 1.3 MB
EGAF00007840102 bam 901.1 kB
EGAF00007840103 bam 2.1 MB
EGAF00007840104 bam 1.2 MB
EGAF00007840105 bam 2.4 MB
EGAF00007840106 bam 826.4 kB
EGAF00007840107 bam 2.8 MB
EGAF00007840108 bam 1.8 MB
EGAF00007840109 bam 2.3 MB
EGAF00007840110 bam 1.4 MB
EGAF00007840111 bam 2.4 MB
EGAF00007840112 bam 2.4 MB
EGAF00007840113 bam 1.5 MB
EGAF00007840114 bam 2.6 MB
EGAF00007840115 bam 2.1 MB
EGAF00007840116 bam 422.8 kB
EGAF00007840117 bam 689.7 kB
EGAF00007840118 bam 2.1 MB
EGAF00007840119 bam 554.8 kB
EGAF00007840120 bam 982.5 kB
EGAF00007840121 bam 2.1 MB
EGAF00007840122 bam 1.7 MB
EGAF00007840123 bam 2.1 MB
EGAF00007840124 bam 1.9 MB
EGAF00007840125 bam 1.0 MB
EGAF00007840126 bam 1.9 MB
EGAF00007840127 bam 1.8 MB
EGAF00007840128 bam 2.2 MB
EGAF00007840129 bam 2.0 MB
EGAF00007840130 bam 746.8 kB
EGAF00007840131 bam 3.0 MB
EGAF00007840132 bam 594.6 kB
EGAF00007840133 bam 2.6 MB
EGAF00007840134 bam 1.0 MB
EGAF00007840135 bam 2.3 MB
EGAF00007840136 bam 387.7 kB
EGAF00007840137 bam 1.3 MB
EGAF00007840138 bam 2.8 MB
EGAF00007840139 bam 1.6 MB
EGAF00007840140 bam 1.8 MB
EGAF00007840141 bam 1.2 MB
EGAF00007840142 bam 750.0 kB
EGAF00007840143 bam 952.9 kB
EGAF00007840144 bam 1.2 MB
EGAF00007840145 bam 1.1 MB
EGAF00007840146 bam 1.5 MB
EGAF00007840147 bam 1.3 MB
EGAF00007840148 bam 830.5 kB
EGAF00007840149 bam 780.9 kB
EGAF00007840150 bam 1.2 MB
EGAF00007840151 bam 1.6 MB
EGAF00007840152 bam 1.3 MB
EGAF00007840153 bam 1.7 MB
EGAF00007840154 bam 1.4 MB
EGAF00007840155 bam 1.7 MB
EGAF00007840156 bam 926.3 kB
EGAF00007840157 bam 1.2 MB
EGAF00007840158 bam 1.2 MB
EGAF00007840159 bam 1.2 MB
EGAF00007840160 bam 678.7 kB
EGAF00007840161 bam 867.6 kB
EGAF00007840162 bam 1.1 MB
EGAF00007840163 bam 1.1 MB
EGAF00007840164 bam 815.5 kB
EGAF00007840165 bam 2.2 MB
EGAF00007840166 bam 1.1 MB
EGAF00007840167 bam 1.6 MB
EGAF00007840168 bam 2.4 MB
EGAF00007840169 bam 1.9 MB
EGAF00007840170 bam 1.2 MB
EGAF00007840171 bam 1.2 MB
EGAF00007840172 bam 924.1 kB
EGAF00007840173 bam 2.3 MB
EGAF00007840174 bam 1.3 MB
EGAF00007840175 bam 1.5 MB
EGAF00007840176 bam 1.4 MB
EGAF00007840177 bam 1.6 MB
EGAF00007840178 bam 1.7 MB
EGAF00007840179 bam 949.3 kB
EGAF00007840180 bam 959.6 kB
EGAF00007840181 bam 846.7 kB
EGAF00007840182 bam 1.8 MB
EGAF00007840183 bam 1.3 MB
EGAF00007840184 bam 2.1 MB
EGAF00007840185 bam 1.5 MB
EGAF00007840186 bam 552.2 kB
EGAF00007840187 bam 1.5 MB
EGAF00007840188 bam 1.2 MB
EGAF00007840189 bam 1.3 MB
EGAF00007840190 bam 2.6 MB
EGAF00007840191 bam 702.4 kB
EGAF00007840192 bam 1.2 MB
EGAF00007840193 bam 1.5 MB
EGAF00007840194 bam 1.6 MB
EGAF00007840195 bam 916.6 kB
EGAF00007840196 bam 1.4 MB
EGAF00007840197 bam 1.8 MB
EGAF00007840198 bam 1.2 MB
EGAF00007840199 bam 3.3 MB
EGAF00007840200 bam 1.2 MB
EGAF00007840201 bam 2.5 MB
EGAF00007840202 bam 2.4 MB
EGAF00007840203 bam 1.2 MB
EGAF00007840204 bam 1.7 MB
EGAF00007840205 bam 2.3 MB
EGAF00007840206 bam 1.4 MB
EGAF00007840207 bam 1.4 MB
EGAF00007840208 bam 2.5 MB
EGAF00007840209 bam 1.3 MB
EGAF00007840210 bam 946.8 kB
EGAF00007840211 bam 1.1 MB
EGAF00007840212 bam 1.5 MB
EGAF00007840213 bam 2.5 MB
EGAF00007840214 bam 2.8 MB
EGAF00007840215 bam 790.6 kB
EGAF00007840216 bam 1.7 MB
EGAF00007840217 bam 1.6 MB
EGAF00007840218 bam 2.5 MB
EGAF00007840219 bam 1.6 MB
EGAF00007840220 bam 1.8 MB
EGAF00007840221 bam 1.9 MB
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EGAF00007840223 bam 1.3 MB
EGAF00007840224 bam 1.5 MB
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EGAF00007840226 bam 1.2 MB
EGAF00007840227 bam 1.2 MB
EGAF00007840228 bam 2.6 MB
EGAF00007840229 bam 1.7 MB
EGAF00007840230 bam 860.7 kB
EGAF00007840231 bam 27.7 kB
EGAF00007840232 bam 2.3 MB
EGAF00007840233 bam 1.7 MB
EGAF00007840234 bam 499.6 kB
EGAF00007840235 bam 1.3 MB
EGAF00007840236 bam 1.6 MB
EGAF00007840237 bam 1.6 MB
EGAF00007840238 bam 2.7 MB
EGAF00007840239 bam 1.2 MB
EGAF00007840240 bam 1.6 MB
EGAF00007840241 bam 1.5 MB
EGAF00007840242 bam 1.5 MB
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EGAF00007840244 bam 1.6 MB
EGAF00007840245 bam 1.6 MB
EGAF00007840246 bam 2.5 MB
EGAF00007840247 bam 1.3 MB
EGAF00007840248 bam 2.2 MB
EGAF00007840249 bam 2.0 MB
EGAF00007840250 bam 2.3 MB
EGAF00007840251 bam 1.8 MB
EGAF00007840252 bam 1.5 MB
EGAF00007840253 bam 1.3 MB
EGAF00007840254 bam 2.1 MB
EGAF00007840255 bam 1.4 MB
EGAF00007840256 bam 1.5 MB
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EGAF00007840258 bam 2.0 MB
EGAF00007840259 bam 1.8 MB
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EGAF00007840261 bam 1.5 MB
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EGAF00007840263 bam 1.5 MB
EGAF00007840264 bam 2.0 MB
EGAF00007840265 bam 1.3 MB
EGAF00007840266 bam 1.1 MB
EGAF00007840267 bam 942.4 kB
EGAF00007840268 bam 1.2 MB
EGAF00007840269 bam 1.5 MB
EGAF00007840270 bam 1.3 MB
EGAF00007840271 bam 1.4 MB
EGAF00007840272 bam 2.6 MB
EGAF00007840273 bam 1.4 MB
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EGAF00007840275 bam 1.6 MB
EGAF00007840276 bam 2.2 MB
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EGAF00007840278 bam 3.3 MB
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EGAF00007840280 bam 2.1 MB
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EGAF00007840282 bam 1.2 MB
EGAF00007840283 bam 1.1 MB
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EGAF00007840285 bam 1.4 MB
EGAF00007840286 bam 2.6 MB
EGAF00007840287 bam 2.5 MB
EGAF00007840288 bam 1.9 MB
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EGAF00007840290 bam 2.5 MB
EGAF00007840291 bam 692.4 kB
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EGAF00007840300 bam 1.5 MB
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EGAF00007840302 bam 2.3 MB
EGAF00007840303 bam 1.9 MB
EGAF00007840304 bam 1.7 MB
EGAF00007840305 bam 912.5 kB
EGAF00007840306 bam 1.2 MB
EGAF00007840307 bam 1.5 MB
EGAF00007840308 bam 979.3 kB
EGAF00007840309 bam 804.8 kB
EGAF00007840310 bam 1.2 MB
EGAF00007840311 bam 2.1 MB
EGAF00007840312 bam 2.9 MB
EGAF00007840313 bam 1.1 MB
EGAF00007840314 bam 968.9 kB
EGAF00007840315 bam 1.1 MB
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EGAF00007840318 bam 1.6 MB
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EGAF00007840320 bam 1.7 MB
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EGAF00007840323 bam 2.0 MB
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EGAF00007840325 bam 1.7 MB
EGAF00007840326 bam 534.3 kB
EGAF00007840327 bam 1.6 MB
EGAF00007840328 bam 314.1 kB
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EGAF00007840333 bam 1.0 MB
EGAF00007840334 bam 906.5 kB
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EGAF00007840339 bam 2.7 MB
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EGAF00007840364 bam 3.3 MB
EGAF00007840365 bam 780.6 kB
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EGAF00007840393 bam 1.8 MB
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EGAF00007840395 bam 2.5 MB
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EGAF00007840398 bam 2.6 MB
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EGAF00007840400 bam 2.3 MB
EGAF00007840401 bam 404.0 kB
EGAF00007840402 bam 1.1 MB
EGAF00007840403 bam 3.8 MB
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EGAF00007840405 bam 3.0 MB
EGAF00007840406 bam 1.7 MB
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EGAF00007840408 bam 3.2 MB
EGAF00007840409 bam 4.7 MB
EGAF00007840410 bam 1.8 MB
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EGAF00007840412 bam 3.2 MB
EGAF00007840413 bam 2.9 MB
EGAF00007840414 bam 1.5 MB
EGAF00007840415 bam 2.7 MB
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EGAF00007840417 bam 2.0 MB
EGAF00007840418 bam 1.1 MB
EGAF00007840419 bam 1.2 MB
EGAF00007840420 bam 2.5 MB
EGAF00007840421 bam 1.9 MB
EGAF00007840422 bam 3.4 MB
EGAF00007840423 bam 2.4 MB
EGAF00007840424 bam 1.4 MB
EGAF00007840425 bam 2.6 MB
EGAF00007840426 bam 2.5 MB
EGAF00007840427 bam 827.3 kB
EGAF00007840428 bam 2.7 MB
EGAF00007840429 bam 680.2 kB
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